ClinVar_ID	RS_ID	CLNSIG	CLNDBN	CLNACC	CLNDSDB	CLNDSDB_ID	CLNREVSTAT	Type	TagSNP_RS_ID
Clinvar_Rec_1	rs150178083	Uncertain significance	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	RCV000697328	MedGen;OMIM;Orphanet	C3151062;613759;ORPHA306550	criteria provided, single submitter	tagSNP	rs150178083
Clinvar_Rec_2	rs771913043	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566301	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs771913043
Clinvar_Rec_3	rs1555190324	Pathogenic	Kabuki syndrome	RCV000544434	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs1555190324
Clinvar_Rec_4	rs367950170	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000566575;RCV000536167	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs367950170
Clinvar_Rec_5	rs377598768	Likely benign	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Squamous cell carcinoma of the head and neck;not provided;not specified	RCV000115717;RCV000203717;RCV000662410;RCV000989729;RCV000235217;RCV000781916	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MeSH;C1168401;275355;ORPHA67037;MedGen	reviewed by expert panel	LD derived	rs535274413
Clinvar_Rec_6	rs377598768	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	RCV000220427;RCV000791760	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001	criteria provided, multiple submitters, no conflicts	LD derived	rs535274413
Clinvar_Rec_7	rs755495846	Pathogenic	Leukoencephalopathy, brain calcifications, and cysts	RCV000256194	MedGen;OMIM;Orphanet	C3281200;614561;ORPHA542310	no assertion criteria provided	tagSNP	rs755495846
Clinvar_Rec_8	rs201025441	Conflicting interpretations of pathogenicity	Hereditary sensory neuropathy type IE;not specified	RCV000560910;RCV000611754	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201025441
Clinvar_Rec_9	rs60310264	Pathogenic	Hutchinson-Gilford progeria syndrome, atypical;Hutchinson-Gilford syndrome;not provided	RCV000015596;RCV000192009;RCV000057406	MedGen;OMIM;Orphanet;SNOMED CT	C4016241;MedGen;176670;ORPHA740;238870004;MedGen	no assertion criteria provided	tagSNP	rs60310264
Clinvar_Rec_10	rs1553265733	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, type 2;not provided	RCV000696116;RCV000592581	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1553265733
Clinvar_Rec_11	rs199772693	Conflicting interpretations of pathogenicity	Diamond-Blackfan anemia;not provided	RCV000381936;RCV000862477	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199772693
Clinvar_Rec_12	rs121908729	Pathogenic	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	RCV000002057;RCV000059113	MedGen;OMIM;Orphanet	C1863239;MedGen;102700;ORPHA277	no assertion criteria provided	tagSNP	rs121908729
Clinvar_Rec_13	rs1558645412	Likely benign	Hereditary cancer-predisposing syndrome	RCV000772309	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558645412
Clinvar_Rec_14	rs765237563	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	RCV000165781;RCV000168235;RCV000758602;RCV000588989	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765237563
Clinvar_Rec_15	rs1559429813	Uncertain significance	Von Hippel-Lindau syndrome	RCV000767292	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1559429813
Clinvar_Rec_16	rs72659361	Pathogenic	Osteogenesis imperfecta type 7	RCV000005238	MedGen;OMIM	C1853162;610682	no assertion criteria provided	tagSNP	rs72659361
Clinvar_Rec_17	rs116062254	Benign/Likely benign	Deficiency of hyaluronoglucosaminidase;not provided	RCV000366868;RCV000960518	MedGen;OMIM;Orphanet;SNOMED CT	C1291490;601492;ORPHA67041;124473006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116097974
Clinvar_Rec_18	rs116062254	Benign/Likely benign	Deficiency of hyaluronoglucosaminidase;not provided	RCV000274618;RCV000960519	MedGen;OMIM;Orphanet;SNOMED CT	C1291490;601492;ORPHA67041;124473006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74342080
Clinvar_Rec_19	rs759125480	Likely pathogenic	Short-rib thoracic dysplasia 13 with or without polydactyly	RCV000761598	MedGen;OMIM	C4225378;616300	criteria provided, single submitter	tagSNP	rs759125480
Clinvar_Rec_20	rs794728118	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma;not provided	RCV000641772;RCV000641772;RCV000587078	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728118
Clinvar_Rec_21	rs587780486	Pathogenic	Mental retardation, autosomal recessive 13;not provided	RCV000118683;RCV000419270	MedGen;OMIM	C2750791;613192;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780486
Clinvar_Rec_22	rs1346726468	Uncertain significance	Inborn genetic diseases	RCV000624232	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1346726468
Clinvar_Rec_23	rs13294882	Benign/Likely benign	Ehlers-Danlos syndrome, type 7A;not provided;not specified	RCV000330504;RCV000589030;RCV000124429	MedGen	C3508773;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79481146
Clinvar_Rec_24	rs1260932753	Uncertain significance	Adams-Oliver syndrome 5;Cardiovascular phenotype	RCV000703349;RCV000617959	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1260932753
Clinvar_Rec_25	rs1569484685	Uncertain significance	Leigh syndrome;not provided	RCV000855192;RCV000756354	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1569484685
Clinvar_Rec_26	rs527236186	Likely benign	Leigh syndrome;Neoplasm of ovary	RCV000855299;RCV000133430	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT	C0023264;256000;ORPHA506;29570005;Human Phenotype Ontology;C0919267;167000;123843001	criteria provided, single submitter	tagSNP	rs527236186
Clinvar_Rec_27	rs189587901	Benign/Likely benign	Familial hypertrophic cardiomyopathy 19;not provided	RCV000226001;RCV000858836	MedGen	C3151266;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149634686
Clinvar_Rec_28	rs7717596	Benign	Intellectual Disability, Recessive	RCV000353525	MedGen	CN239290	criteria provided, single submitter	LD derived	rs2303707
Clinvar_Rec_29	rs794728657	Pathogenic	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided	RCV000491280;RCV000018160;RCV000182460	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0025267;131100;ORPHA652;30664006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728657
Clinvar_Rec_30	rs886057734	Uncertain significance	Von Hippel-Lindau syndrome	RCV000287204	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs886057734
Clinvar_Rec_31	rs140044688	Likely benign	Hereditary cancer-predisposing syndrome	RCV000209585	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	no assertion criteria provided	LD derived	rs572770652
Clinvar_Rec_32	rs140044688	Likely benign	Hereditary cancer-predisposing syndrome	RCV000208941	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	no assertion criteria provided	LD derived	rs116710496
Clinvar_Rec_33	rs5995966	Uncertain significance	Nephronophthisis-Like Nephropathy	RCV000283854	MedGen	C3280617	criteria provided, single submitter	tagSNP	rs5995966
Clinvar_Rec_34	rs138848856	Uncertain significance	Nephronophthisis-Like Nephropathy	RCV000390014	MedGen	C3280617	criteria provided, single submitter	tagSNP	rs138848856
Clinvar_Rec_35	rs138848856	Uncertain significance	Nephronophthisis-Like Nephropathy	RCV000292714	MedGen	C3280617	criteria provided, single submitter	LD derived	rs144498602
Clinvar_Rec_36	rs138848856	Uncertain significance	Nephronophthisis-Like Nephropathy	RCV000306507	MedGen	C3280617	criteria provided, single submitter	LD derived	rs531134116
Clinvar_Rec_37	rs114980245	Conflicting interpretations of pathogenicity	Rubinstein-Taybi syndrome 2;not provided	RCV000145950;RCV000945587	MedGen;OMIM;Orphanet	C3150941;613684;ORPHA353284;MedGen	criteria provided, conflicting interpretations	LD derived	rs2230110
Clinvar_Rec_38	rs11545763	Likely benign	Congenital disorder of glycosylation	RCV000322666	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs16445
Clinvar_Rec_39	rs755335432	Likely benign	Lymphoproliferative syndrome	RCV000356999	MedGen;Orphanet	CN228424;ORPHA238510	criteria provided, single submitter	tagSNP	rs755335432
Clinvar_Rec_40	rs886051040	Uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	RCV000339259	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs886051040
Clinvar_Rec_41	rs886051042	Uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	RCV000377047	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs886051042
Clinvar_Rec_42	rs76515674	Likely benign	Sotos syndrome;Weaver syndrome	RCV000335725;RCV000278433	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	LD derived	rs78749307
Clinvar_Rec_43	rs749549919	Uncertain significance	Factor XII deficiency disease;Hereditary Angioedema	RCV000400267;RCV000293356	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0015526;234000;ORPHA330;46981006;MedGen	criteria provided, single submitter	tagSNP	rs749549919
Clinvar_Rec_44	rs542865235	Uncertain significance	Amyloidogenic transthyretin amyloidosis;not provided;not specified	RCV000474349;RCV000766993;RCV000155021	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C2751492;105210;ORPHA85447;43532007;442012008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138065384
Clinvar_Rec_45	rs544532075	Uncertain significance	Limb-girdle muscular dystrophy, type 1F;not provided	RCV001041637;RCV000725506	MedGen;OMIM;Orphanet	C1842062;608423;ORPHA55595;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148210365
Clinvar_Rec_46	rs536111547	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided;not specified	RCV000245536;RCV000322509;RCV000283861;RCV000204884;RCV000154659	MedGen;MedGen;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	LD derived	rs35366555
Clinvar_Rec_47	rs574736626	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided;not specified	RCV000385326;RCV000877248;RCV000483097	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	LD derived	rs150104389
Clinvar_Rec_48	rs574736626	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000385526	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs185800148
Clinvar_Rec_49	rs574736626	Benign/Likely benign	Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000196595;RCV000357789;RCV000127297;RCV000858526;RCV000212816	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115759702
Clinvar_Rec_50	rs556097696	Uncertain significance	Primary ciliary dyskinesia	RCV000368087	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs541488263
Clinvar_Rec_51	rs6574140	Benign	Primary ciliary dyskinesia	RCV000362454	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs4903140
Clinvar_Rec_52	rs6574140	Benign	Primary ciliary dyskinesia	RCV000373282	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1860576
Clinvar_Rec_53	rs6574140	Benign	Primary ciliary dyskinesia	RCV000296411	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1043732
Clinvar_Rec_54	rs6574140	Benign	Primary ciliary dyskinesia	RCV000285658	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs7155268
Clinvar_Rec_55	rs4899477	Benign	Primary ciliary dyskinesia	RCV000362454	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs4903140
Clinvar_Rec_56	rs4899477	Benign	Primary ciliary dyskinesia	RCV000373282	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1860576
Clinvar_Rec_57	rs4899477	Benign	Primary ciliary dyskinesia	RCV000296411	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1043732
Clinvar_Rec_58	rs4899477	Benign	Primary ciliary dyskinesia	RCV000285658	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs7155268
Clinvar_Rec_59	rs10135344	Benign	Primary ciliary dyskinesia	RCV000362454	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs4903140
Clinvar_Rec_60	rs10135344	Benign	Primary ciliary dyskinesia	RCV000373282	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1860576
Clinvar_Rec_61	rs10135344	Benign	Primary ciliary dyskinesia	RCV000296411	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs1043732
Clinvar_Rec_62	rs10135344	Benign	Primary ciliary dyskinesia	RCV000285658	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs7155268
Clinvar_Rec_63	rs8003415	Benign	Methylmalonate semialdehyde dehydrogenase deficiency	RCV000270739	MedGen;OMIM;Orphanet	C3279840;614105;ORPHA289307	criteria provided, single submitter	LD derived	rs8017248
Clinvar_Rec_64	rs544815099	Uncertain significance	Nephronophthisis	RCV000318575	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008	criteria provided, single submitter	LD derived	rs146555568
Clinvar_Rec_65	rs148260009	Conflicting interpretations of pathogenicity	Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified	RCV000318552;RCV000385807;RCV000229439;RCV000319463	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, conflicting interpretations	LD derived	rs186486235
Clinvar_Rec_66	rs181322820	Uncertain significance	Long QT syndrome	RCV000544274	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	LD derived	rs575158854
Clinvar_Rec_67	rs114801083	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided	RCV000247931;RCV000328795;RCV000383341;RCV000857608	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34370932
Clinvar_Rec_68	rs114801083	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided;not specified	RCV000248840;RCV000398846;RCV000301532;RCV000845421;RCV000171783	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34956633
Clinvar_Rec_69	rs114801083	Likely benign	Long QT syndrome;Romano-Ward syndrome	RCV000264892;RCV000322405	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	LD derived	rs112467497
Clinvar_Rec_70	rs112255077	Benign/Likely benign	Treacher Collins Syndrome, Recessive;not provided	RCV000310816;RCV000992672	MedGen	CN239289;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113383614
Clinvar_Rec_71	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000274029	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs1064260
Clinvar_Rec_72	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000401669	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs1141338
Clinvar_Rec_73	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000363986	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs28877272
Clinvar_Rec_74	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000323247	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs9333565
Clinvar_Rec_75	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000343501	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs112207298
Clinvar_Rec_76	rs112255077	Likely benign	Xeroderma pigmentosum	RCV000401447	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs75658777
Clinvar_Rec_77	rs113914708	Uncertain significance	Xeroderma pigmentosum	RCV000288440	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs111841811
Clinvar_Rec_78	rs9472090	Benign	Xeroderma pigmentosum	RCV000307480	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs9472090
Clinvar_Rec_79	rs531267078	Likely benign	Fibrous dysplasia of jaw	RCV000401624	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs531267078
Clinvar_Rec_80	rs556190949	Likely benign	Fibrous dysplasia of jaw	RCV000369342	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs556190949
Clinvar_Rec_81	rs566113870	Likely benign	Fibrous dysplasia of jaw	RCV000322388	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs566113870
Clinvar_Rec_82	rs61995921	Conflicting interpretations of pathogenicity	ALG8-CDG;Congenital disorder of glycosylation;not provided	RCV000660405;RCV000323628;RCV000878915	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C2931002;608104;ORPHA79325;MedGen;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61995921
Clinvar_Rec_83	rs886047193	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000275402	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886047193
Clinvar_Rec_84	rs540563488	Conflicting interpretations of pathogenicity	Hereditary spastic paraplegia 7;not specified	RCV000817246;RCV000197390	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, conflicting interpretations	LD derived	rs535030441
Clinvar_Rec_85	rs11076606	Benign	Hereditary spastic paraplegia 7;Spastic Paraplegia, Recessive;not specified	RCV000602079;RCV000346215;RCV000247833	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3803679
Clinvar_Rec_86	rs11076606	Benign	Hereditary spastic paraplegia 7;Spastic Paraplegia, Recessive;not provided;not specified	RCV000576601;RCV000298634;RCV000860204;RCV000251593	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4785691
Clinvar_Rec_87	rs12050940	Benign	Hereditary spastic paraplegia 7;Spastic Paraplegia, Recessive;not specified	RCV000602079;RCV000346215;RCV000247833	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3803679
Clinvar_Rec_88	rs12050940	Benign	Hereditary spastic paraplegia 7;Spastic Paraplegia, Recessive;not provided;not specified	RCV000576601;RCV000298634;RCV000860204;RCV000251593	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4785691
Clinvar_Rec_89	rs563316989	Uncertain significance	Fanconi anemia	RCV000367567	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs144644592
Clinvar_Rec_90	rs186884513	Benign/Likely benign	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate;not provided;not specified	RCV000351646;RCV000296773;RCV000423254;RCV000249003	MedGen	CN239281;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs143084059
Clinvar_Rec_91	rs186884513	Benign/Likely benign	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate;not provided;not specified	RCV000303666;RCV000358274;RCV000464998;RCV000248467	MedGen	CN239281;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77702567
Clinvar_Rec_92	rs147318343	Benign	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000343711;RCV000570358;RCV000114305	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28997582
Clinvar_Rec_93	rs2569538	Likely benign	Familial hypercholesterolemia 1	RCV000237643	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs2569538
Clinvar_Rec_94	rs545951983	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000565196;RCV000548032	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	LD derived	rs200258214
Clinvar_Rec_95	rs398122797	Likely pathogenic	Molybdenum cofactor deficiency, complementation group B	RCV000006482	MedGen;OMIM;Orphanet	C1854989;252160;ORPHA308393	criteria provided, single submitter	tagSNP	rs398122797
Clinvar_Rec_96	rs138110997	Uncertain significance	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	RCV000318307	MedGen;OMIM	C4721893;221770	criteria provided, single submitter	LD derived	rs113207157
Clinvar_Rec_97	rs529512295	Uncertain significance	Natural killer cell and glucocorticoid deficiency with DNA repair defect	RCV000345847	MedGen;OMIM;Orphanet	C1864947;609981;ORPHA75391	criteria provided, single submitter	tagSNP	rs529512295
Clinvar_Rec_98	rs140519943	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided	RCV001040592;RCV001040592;RCV000594837	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs369180031
Clinvar_Rec_99	rs182052065	Benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000558191;RCV000558191	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs61734653
Clinvar_Rec_100	rs182052065	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations;not provided;not specified	RCV000567221;RCV000206617;RCV000857966;RCV000252840	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28997577
Clinvar_Rec_101	rs182052065	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000209232;RCV000836316	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	LD derived	rs139414598
Clinvar_Rec_102	rs377274384	Conflicting interpretations of pathogenicity	Mucopolysaccharidosis type 7;not provided;not specified	RCV000267693;RCV000877397;RCV000178059	MedGen;OMIM;Orphanet	C0085132;253220;ORPHA584;MedGen	criteria provided, conflicting interpretations	LD derived	rs537957979
Clinvar_Rec_103	rs552709347	Uncertain significance	Progressive myoclonic epilepsy	RCV000294736	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs565110569
Clinvar_Rec_104	rs62466085	Likely benign	Progressive myoclonic epilepsy	RCV000297291	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs4718382
Clinvar_Rec_105	rs62466085	Likely benign	Progressive myoclonic epilepsy	RCV000279549	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs17229513
Clinvar_Rec_106	rs547400634	Uncertain significance	Congenital Muscular Dystrophy, alpha-dystroglycan related	RCV000362674	MedGen	CN239202	criteria provided, single submitter	tagSNP	rs547400634
Clinvar_Rec_107	rs317846	Benign	Progressive familial intrahepatic cholestasis;not specified	RCV000313084;RCV000243388	MedGen;Orphanet;SNOMED CT	C0268312;ORPHA172;74162007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs319438
Clinvar_Rec_108	rs886050112	Uncertain significance	Fanconi anemia;Hereditary breast and ovarian cancer syndrome	RCV000349435;RCV000292137	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	C0015625;ORPHA84;30575002;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs886050112
Clinvar_Rec_109	rs545372783	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000336752;RCV000279400	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	LD derived	rs544498983
Clinvar_Rec_110	rs4656985	Likely benign	Variegate porphyria	RCV000289768	MedGen;OMIM;Orphanet;SNOMED CT	C0162532;176200;ORPHA79473;58275005	criteria provided, single submitter	LD derived	rs2301286
Clinvar_Rec_111	rs886045468	Uncertain significance	Mitochondrial complex I deficiency	RCV000267579	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs886045468
Clinvar_Rec_112	rs191955041	Uncertain significance	Mitochondrial complex I deficiency	RCV000320283	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs191955041
Clinvar_Rec_113	rs376825541	Conflicting interpretations of pathogenicity	Coenzyme Q10 deficiency, primary;not provided	RCV000285146;RCV000198069	MedGen;Orphanet	CN229570;ORPHA35656;MedGen	criteria provided, conflicting interpretations	LD derived	rs11547480
Clinvar_Rec_114	rs410380	Benign/Likely benign	Congenital Stationary Night Blindness, Recessive;not specified	RCV000379969;RCV000246072	MedGen	CN239273;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35571449
Clinvar_Rec_115	rs410380	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000335250	MedGen	CN239273	criteria provided, single submitter	LD derived	rs62014379
Clinvar_Rec_116	rs1881193	Benign	Syndromic intellectual disability;not provided	RCV000370085;RCV000712050	MedGen;Orphanet	CN225415;ORPHA183763;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1881193
Clinvar_Rec_117	rs35643216	Benign	Syndromic intellectual disability;not provided	RCV000354042;RCV000712046	MedGen;Orphanet	CN225415;ORPHA183763;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35643216
Clinvar_Rec_118	rs141229564	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000334452	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs141229564
Clinvar_Rec_119	rs141229564	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000343723	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs73876563
Clinvar_Rec_120	rs141229564	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000265798	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs79447039
Clinvar_Rec_121	rs141229564	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000384729	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs11913772
Clinvar_Rec_122	rs361950	Benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000306534	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs362057
Clinvar_Rec_123	rs361950	Benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000349159	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs362209
Clinvar_Rec_124	rs8001793	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000286703	MedGen	CN239251	criteria provided, single submitter	LD derived	rs700364
Clinvar_Rec_125	rs564792232	Uncertain significance	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	RCV000314930;RCV000402252	MedGen;Orphanet;OMIM;Orphanet	C0342782;ORPHA35698;MedGen;245400;ORPHA17	criteria provided, single submitter	tagSNP	rs564792232
Clinvar_Rec_126	rs575528704	Uncertain significance	Vitamin K-Dependent Clotting Factors	RCV000305641	MedGen	CN239236	criteria provided, single submitter	tagSNP	rs575528704
Clinvar_Rec_127	rs587781248	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Spastic paraplegia 31, autosomal dominant;Spasticity	RCV000790184;RCV000681482;RCV000657159	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen	C0007959;ORPHA166;50548001;MedGen;610250;ORPHA101011;Human Phenotype Ontology;C0026838	no assertion criteria provided	tagSNP	rs587781248
Clinvar_Rec_128	rs2071022	Benign	Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta, type VI;not specified	RCV000333112;RCV000844861;RCV000608081	MedGen;OMIM	CN239451;MedGen;613982;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6828
Clinvar_Rec_129	rs571750347	Conflicting interpretations of pathogenicity	Glycogen storage disease due to muscle beta-enolase deficiency;not specified	RCV001040725;RCV000601694	MedGen;OMIM;Orphanet	C2752027;612932;ORPHA99849;MedGen	criteria provided, conflicting interpretations	LD derived	rs147327991
Clinvar_Rec_130	rs190959566	Uncertain significance	Cone-Rod Dystrophy, Recessive;Leber congenital amaurosis	RCV000310166;RCV000398658	MedGen;MedGen;Orphanet;SNOMED CT	CN239309;MeSH;C0339527;ORPHA65;193413001	criteria provided, single submitter	LD derived	rs188318743
Clinvar_Rec_131	rs537332416	Uncertain significance	Spastic Paraplegia, Recessive	RCV000265681	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs537332416
Clinvar_Rec_132	rs547738089	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified	RCV000132453;RCV000662753;RCV000708995;RCV000034631;RCV000221255	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen;ORPHA144;MedGen	criteria provided, conflicting interpretations	LD derived	rs375289386
Clinvar_Rec_133	rs9997288	Benign	Congenital disorder of glycosylation	RCV000335842	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs819271
Clinvar_Rec_134	rs9997288	Benign	Congenital disorder of glycosylation;not specified	RCV000306007;RCV000173465	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1128141
Clinvar_Rec_135	rs535816758	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	RCV000408340	MedGen	CN239352	criteria provided, single submitter	tagSNP	rs535816758
Clinvar_Rec_136	rs546380161	Uncertain significance	Monogenic diabetes	RCV000664128	MedGen;Orphanet	C3888631;ORPHA183625	criteria provided, single submitter	LD derived	rs368907057
Clinvar_Rec_137	rs1567778299	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772111	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567778299
Clinvar_Rec_138	rs886040902	Pathogenic	Breast-ovarian cancer, familial 1	RCV000258491	MedGen;OMIM	C2676676;604370	criteria provided, single submitter	tagSNP	rs886040902
Clinvar_Rec_139	rs566348485	Uncertain significance	Alexander Disease;Alexander Disease;not provided	RCV000192110;RCV000192131;RCV000056895	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen;203450;ORPHA58;81854007;MedGen	criteria provided, single submitter	LD derived	rs56679084
Clinvar_Rec_140	rs1449733937	Uncertain significance	Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Turcot syndrome	RCV000764437;RCV001021738;RCV000630206;RCV000764437;RCV000764437	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	HP;C0476089;608089;254878006;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;276300;ORPHA252202;61665008	criteria provided, multiple submitters, no conflicts	tagSNP	rs1449733937
Clinvar_Rec_141	rs199739099	Uncertain significance	Lynch syndrome I	RCV000172815	MedGen;OMIM	C2936783;120435	criteria provided, single submitter	tagSNP	rs199739099
Clinvar_Rec_142	rs112954500	Benign	Infantile liver failure syndrome 1;not provided;not specified	RCV000986119;RCV000881879;RCV000126577	MedGen;OMIM;Orphanet	C3809522;615438;ORPHA370088;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112954500
Clinvar_Rec_143	rs16980398	Benign	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1;not specified	RCV000279682;RCV000250074	MedGen;OMIM	C4551768;125310;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs16980398
Clinvar_Rec_144	rs772395858	Pathogenic/Likely pathogenic	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided	RCV000179961;RCV000723408	MedGen;OMIM	CN028786;210200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772395858
Clinvar_Rec_145	rs377134185	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not specified	RCV000572973;RCV000266213;RCV000323529;RCV000358590;RCV000251091	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377134185
Clinvar_Rec_146	rs34635677	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Mitochondrial complex II deficiency;Paragangliomas 5;Pheochromocytoma;not provided;not specified	RCV000567706;RCV000352522;RCV000210535;RCV000387287;RCV000210535;RCV000295347;RCV000757746;RCV000245657	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;MedGen;252011;ORPHA3208;MedGen;614165;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34635677
Clinvar_Rec_147	rs571292356	Uncertain significance	Dilated cardiomyopathy 1GG;Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5;Paragangliomas 5	RCV000765826;RCV000214276;RCV000765826;RCV000230633;RCV000765826;RCV000230633;RCV000663181;RCV000765826	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;OMIM;OMIM	C3150898;613642;MedGen;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;MedGen;252011;ORPHA3208;MedGen;614165;MedGen;614165;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs571292356
Clinvar_Rec_148	rs772325115	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5	RCV000818760;RCV000662906;RCV000818760	MedGen;OMIM;Orphanet;OMIM;OMIM	C1855008;252011;ORPHA3208;MedGen;614165;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs772325115
Clinvar_Rec_149	rs747249998	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569829;RCV000459700	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747249998
Clinvar_Rec_150	rs747249998	Pathogenic	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649408;RCV000649408	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs747249998
Clinvar_Rec_151	rs192942671	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not specified	RCV000572973;RCV000266213;RCV000323529;RCV000358590;RCV000251091	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs377134185
Clinvar_Rec_152	rs184594943	Benign/Likely benign	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not specified	RCV000715282;RCV000313436;RCV000117857	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs184594943
Clinvar_Rec_153	rs184594943	Uncertain significance	Intellectual Disability, Recessive	RCV000298290	MedGen	CN239290	criteria provided, single submitter	LD derived	rs139145592
Clinvar_Rec_154	rs184594943	Uncertain significance	Intellectual Disability, Recessive	RCV000365128	MedGen	CN239290	criteria provided, single submitter	LD derived	rs8192123
Clinvar_Rec_155	rs184594943	Uncertain significance	Intellectual Disability, Recessive	RCV000321887	MedGen	CN239290	criteria provided, single submitter	LD derived	rs147269098
Clinvar_Rec_156	rs201599156	Benign/Likely benign	Congenital generalized lipodystrophy (disease);Neurologic Disorders/Seipinopathy;not provided;not specified	RCV000351350;RCV000389555;RCV000865057;RCV000614057	Human Phenotype Ontology;MedGen	HP;C0221032;na;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200300686
Clinvar_Rec_157	rs1352053477	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000531071	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1352053477
Clinvar_Rec_158	rs376140250	Conflicting interpretations of pathogenicity	Aicardi Goutieres syndrome;not provided	RCV000286977;RCV000639859	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376140250
Clinvar_Rec_159	rs886048511	Uncertain significance	Nestor-Guillermo progeria syndrome	RCV000306436	MedGen;OMIM;Orphanet	C3151446;614008;ORPHA280576	criteria provided, single submitter	tagSNP	rs886048511
Clinvar_Rec_160	rs886048516	Uncertain significance	Nestor-Guillermo progeria syndrome	RCV000384007	MedGen;OMIM;Orphanet	C3151446;614008;ORPHA280576	criteria provided, single submitter	tagSNP	rs886048516
Clinvar_Rec_161	rs541138596	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000365596	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs541138596
Clinvar_Rec_162	rs768932281	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000385474	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs768932281
Clinvar_Rec_163	rs368105354	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000572204;RCV001065648	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141826817
Clinvar_Rec_164	rs80358322	Pathogenic	Exudative vitreoretinopathy 4, autosomal dominant;Familial exudative vitreoretinopathy;not provided	RCV000006667;RCV000505032;RCV000489366	MedGen;MedGen;Orphanet	C4016838;MeSH;C0339539;ORPHA891;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358322
Clinvar_Rec_165	rs1060503548	Uncertain significance	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV000476242;RCV001025102;RCV000476242	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503548
Clinvar_Rec_166	rs886057734	Uncertain significance	Von Hippel-Lindau syndrome	RCV000287204	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs886057734
Clinvar_Rec_167	rs541565919	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy	RCV000808938;RCV000774157	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C1858379;604400;Human Phenotype Ontology;C0878544;ORPHA167848;85898001	criteria provided, multiple submitters, no conflicts	tagSNP	rs541565919
Clinvar_Rec_168	rs557868412	Uncertain significance	Cardiovascular phenotype	RCV000620112	MedGen	CN230736	criteria provided, single submitter	LD derived	rs185611706
Clinvar_Rec_169	rs3731178	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000299770;RCV000327424	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs3731178
Clinvar_Rec_170	rs754532049	Pathogenic	Xeroderma pigmentosum;Xeroderma pigmentosum, group C;not provided	RCV000781925;RCV000000286;RCV000791609	MedGen;Orphanet;SNOMED CT;OMIM;SNOMED CT	C0043346;ORPHA910;44600005;MedGen;278720;25784009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754532049
Clinvar_Rec_171	rs587778762	Uncertain significance	Xeroderma pigmentosum, group C;not specified	RCV000666212;RCV000122341	MedGen;OMIM;SNOMED CT	C2752147;278720;25784009;MedGen	criteria provided, single submitter	tagSNP	rs587778762
Clinvar_Rec_172	rs146282855	Uncertain significance	Deficiency of transaldolase	RCV000272579	MedGen;OMIM;Orphanet;SNOMED CT	C1291329;606003;ORPHA101028;124252008	criteria provided, single submitter	tagSNP	rs146282855
Clinvar_Rec_173	rs777539013	Pathogenic	Neutral lipid storage myopathy	RCV000033092	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908	no assertion criteria provided	tagSNP	rs777539013
Clinvar_Rec_174	rs879255232	Pathogenic	Hyperphosphatasia with mental retardation syndrome 3	RCV000043535	Gene;MedGen;OMIM	100689013;C3280153;614207	no assertion criteria provided	tagSNP	rs879255232
Clinvar_Rec_175	rs886047577	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000355727	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs886047577
Clinvar_Rec_176	rs4820	Benign	Glycogen storage disease XI;not provided;not specified	RCV000311842;RCV000675423;RCV000437558	MedGen;OMIM;Orphanet	C2752022;612933;ORPHA284426;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4820
Clinvar_Rec_177	rs1554653284	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583672	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554653284
Clinvar_Rec_178	rs1554653923	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573593	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554653923
Clinvar_Rec_179	rs1554654028	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000777199;RCV000540853	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554654028
Clinvar_Rec_180	rs1057519881	Likely pathogenic	Adenocarcinoma of stomach;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder	RCV000437058;RCV000427609;RCV000442368;RCV000434118;RCV000442465;RCV000433507;RCV000426834;RCV000418529	MedGen;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	C0278701;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;Human Phenotype Ontology;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519881
Clinvar_Rec_181	rs756750256	Uncertain significance	Melanoma;not provided	RCV000626782;RCV000481730	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;CN971653;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756750256
Clinvar_Rec_182	rs756750256	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;Melanoma-pancreatic cancer syndrome;not specified	RCV000564503;RCV000461748;RCV000988156;RCV000236358	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;606719;ORPHA404560;MedGen	criteria provided, conflicting interpretations	tagSNP	rs756750256
Clinvar_Rec_183	rs752573958	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000580995;RCV000638994;RCV000485648	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752573958
Clinvar_Rec_184	rs1563892715	Pathogenic	Hereditary cutaneous melanoma	RCV000693768	MedGen	C1512419	criteria provided, single submitter	tagSNP	rs1563892715
Clinvar_Rec_185	rs766772030	Benign	Hereditary cancer-predisposing syndrome	RCV000583858	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs766772030
Clinvar_Rec_186	rs587782206	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000130872;RCV000458116	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782206
Clinvar_Rec_187	rs864622263	Uncertain significance	Hereditary cutaneous melanoma	RCV000560250	MedGen	C1512419	criteria provided, single submitter	tagSNP	rs864622263
Clinvar_Rec_188	rs864622263	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000493865;RCV000206427;RCV000235523	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622263
Clinvar_Rec_189	rs786201931	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164467	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201931
Clinvar_Rec_190	rs1554656670	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580507	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554656670
Clinvar_Rec_191	rs1057517575	Uncertain significance	Hereditary cutaneous melanoma;Melanoma-pancreatic cancer syndrome	RCV000819361;RCV000412466	MedGen;OMIM;Orphanet	C1512419;MedGen;606719;ORPHA404560	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057517575
Clinvar_Rec_192	rs537588390	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Dilated cardiomyopathy;Dilated cardiomyopathy with woolly hair and keratoderma;not provided	RCV000804647;RCV000772488;RCV000678706;RCV000804647;RCV000587494	MedGen;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1843896;607450;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;605676;ORPHA65282;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs537588390
Clinvar_Rec_193	rs797045560	Pathogenic	Rubinstein-Taybi syndrome 2	RCV000193166	MedGen;OMIM;Orphanet	C3150941;613684;ORPHA353284	criteria provided, single submitter	tagSNP	rs797045560
Clinvar_Rec_194	rs121965006	Pathogenic	Methemoglobinemia type 2	RCV000000258	MedGen	C2749560	no assertion criteria provided	tagSNP	rs121965006
Clinvar_Rec_195	rs114383207	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided	RCV000309278;RCV000948322	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	LD derived	rs150614794
Clinvar_Rec_196	rs910797	Likely benign	Congenital disorder of glycosylation	RCV000322666	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs16445
Clinvar_Rec_197	rs1064792857	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208699	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs1064792857
Clinvar_Rec_198	rs886049853	Uncertain significance	Bardet-Biedl syndrome	RCV000305215	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs886049853
Clinvar_Rec_199	rs104895332	Pathogenic/Likely pathogenic	Hyperimmunoglobulin D with periodic fever;Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;not provided	RCV000083853;RCV000799676;RCV000799676;RCV000217732	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0398691;260920;ORPHA343;234538002;MedGen;260920;ORPHA343;234538002;MedGen;610377;ORPHA29;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895332
Clinvar_Rec_200	rs4755239	Benign	Enlarged parietal foramina	RCV000325133	Human Phenotype Ontology;MedGen;Orphanet	HP;C1868598;ORPHA60015	criteria provided, single submitter	tagSNP	rs4755239
Clinvar_Rec_201	rs1553652080	Likely pathogenic	Biotinidase deficiency	RCV000664888	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	tagSNP	rs1553652080
Clinvar_Rec_202	rs886055332	Conflicting interpretations of pathogenicity	Ehlers-Danlos syndrome, type 4	RCV000346978	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, conflicting interpretations	tagSNP	rs886055332
Clinvar_Rec_203	rs28358569	drug response	Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial;Gentamicin response	RCV000010266;RCV000010265;RCV000722076	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1838854;580000;ORPHA168609;MedGen;500008;ORPHA90641;MedGen	criteria provided, single submitter	tagSNP	rs28358569
Clinvar_Rec_204	rs199474657	Pathogenic	3-Methylglutaconic aciduria type 1;Age-related macular degeneration 2;Cyclical vomiting syndrome;Diabetes-deafness syndrome maternally transmitted;Glucose intolerance;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome;MERRF/MELAS overlap syndrome;Mitochondrial complex IV deficiency;Mitochondrial diseases;Muscle stiffness, painful;Sensorineural hearing loss;Short stature;Stroke;not provided	RCV000022901;RCV000010209;RCV000010210;RCV000032997;RCV000626561;RCV000010206;RCV000763623;RCV000143997;RCV000022902;RCV000010211;RCV000495738;RCV000010208;RCV000626561;RCV000626561;RCV000626561;RCV000224855	MedGen;OMIM;Orphanet;OMIM;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;MedGen;SNOMED CT;MedGen;MeSH;MedGen	C0342727;250950;ORPHA67046;MedGen;153800;MedGen;500007;18773000;MedGen;520000;ORPHA225;237619009;Human Phenotype Ontology;C0271650;MedGen;540000;ORPHA550;39925003;MedGen;540000;ORPHA550;39925003;MedGen;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000;MedGen;ORPHA68380;MedGen;C0018784;60700002;Human Phenotype Ontology;C0349588;Human Phenotype Ontology;D020521;C0038454;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199474657
Clinvar_Rec_205	rs199474663	Pathogenic	Cardiomyopathy with or without skeletal myopathy;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010219;RCV000850698	MedGen;OMIM;Orphanet;SNOMED CT	C4016615;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs199474663
Clinvar_Rec_206	rs121434454	Pathogenic	Mitochondrial myopathy, isolated	RCV000010244	MedGen	C4016606	no assertion criteria provided	tagSNP	rs121434454
Clinvar_Rec_207	rs878852987	Uncertain significance	Leigh syndrome;not provided	RCV000854224;RCV000224948	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878852987
Clinvar_Rec_208	rs1057520099	Conflicting interpretations of pathogenicity	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;not provided	RCV000851027;RCV000426541	MedGen;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057520099
Clinvar_Rec_209	rs387906424	Pathogenic	Leber optic atrophy and dystonia;Leber's optic atrophy	RCV000010329;RCV000055704	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C1839040;500001;Human Phenotype Ontology;C0917796;535000;ORPHA104;58610003	no assertion criteria provided	tagSNP	rs387906424
Clinvar_Rec_210	rs797045055	Conflicting interpretations of pathogenicity	Dysarthria;Dystonia;Leigh syndrome	RCV000191107;RCV000191107;RCV000855132	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0013362;Human Phenotype Ontology;C0013421;MedGen;256000;ORPHA506;29570005	criteria provided, conflicting interpretations	tagSNP	rs797045055
Clinvar_Rec_211	rs527236185	Benign	Familial cancer of breast;Leigh syndrome	RCV000133429;RCV000855298	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs527236185
Clinvar_Rec_212	rs139095003	Benign/Likely benign	Deafness, autosomal recessive 3;not provided;not specified	RCV000989772;RCV000513683;RCV000038997	MedGen;OMIM	C1838263;600316;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140029076
Clinvar_Rec_213	rs267607166	Uncertain significance	Cone-rod dystrophy	RCV000006240	MedGen;Orphanet	C4085590;ORPHA1872	criteria provided, single submitter	tagSNP	rs267607166
Clinvar_Rec_214	rs2481598	Benign	Cardiovascular phenotype;Friedreich ataxia 1;not provided;not specified	RCV000252378;RCV000602503;RCV000676782;RCV000117105	MedGen;OMIM	CN230736;MedGen;229300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2481598
Clinvar_Rec_215	rs886050946	Uncertain significance	Pulmonary blastoma	RCV000350554	Human Phenotype Ontology;MedGen;Orphanet	HP;C1266144;ORPHA64741	criteria provided, single submitter	tagSNP	rs886050946
Clinvar_Rec_216	rs2145635	Benign	Pontocerebellar hypoplasia type 1A;Pontoneocerebellar hypoplasia;not specified	RCV000605697;RCV000404780;RCV000118847	Gene;MedGen;OMIM;SNOMED CT	100852400;CN032785;607596;MedGen;373666002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2145635
Clinvar_Rec_217	rs17511858	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified	RCV000353283;RCV000716096;RCV000260671;RCV000300789;RCV001001647	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17511858
Clinvar_Rec_218	rs17511858	Likely benign	Charcot-Marie-Tooth disease, type 2;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant	RCV000307087;RCV000345548;RCV000403559	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99	criteria provided, single submitter	LD derived	rs2273436
Clinvar_Rec_219	rs17511858	Benign/Likely benign	Charcot-Marie-Tooth disease, axonal, type 2O;Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified	RCV000460759;RCV000332263;RCV000716090;RCV000273800;RCV000389324;RCV000116918	MedGen;OMIM;Orphanet;Orphanet;Orphanet	C3280220;614228;ORPHA284232;MedGen;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2273437
Clinvar_Rec_220	rs17511858	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified	RCV000365122;RCV000716098;RCV000310503;RCV000405935;RCV000462589;RCV000116913	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs17512082
Clinvar_Rec_221	rs17511858	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified	RCV000291943;RCV000716092;RCV000383855;RCV000326988;RCV000458339;RCV000116923	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs17512460
Clinvar_Rec_222	rs745510694	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant	RCV000334270;RCV000281551;RCV000378339	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99	criteria provided, single submitter	tagSNP	rs745510694
Clinvar_Rec_223	rs119460973	Pathogenic	Osteopetrosis, autosomal recessive 5	RCV000003078	MedGen;OMIM	C1968603;259720	no assertion criteria provided	tagSNP	rs119460973
Clinvar_Rec_224	rs144240955	Uncertain significance	Primary ciliary dyskinesia	RCV000686583	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs144240955
Clinvar_Rec_225	rs754230211	Pathogenic	ALOPECIA-MENTAL RETARDATION SYNDROME 4	RCV000735953	MedGen;OMIM	CN272916;618840	no assertion criteria provided	tagSNP	rs754230211
Clinvar_Rec_226	rs539766944	Conflicting interpretations of pathogenicity	Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified	RCV000359448;RCV000949860;RCV000147137	MedGen	CN239360;MedGen	criteria provided, conflicting interpretations	LD derived	rs34849154
Clinvar_Rec_227	rs539766944	Conflicting interpretations of pathogenicity	Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified	RCV000330789;RCV000949862;RCV000147218	MedGen	CN239360;MedGen	criteria provided, conflicting interpretations	LD derived	rs76287849
Clinvar_Rec_228	rs3792269	risk factor	Diabetes mellitus type 2;Polycystic ovary syndrome, susceptibility to	RCV000005401;RCV000005402	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0011860;125853;ORPHA181376;44054006;na	no assertion criteria provided	LD derived	rs2975760
Clinvar_Rec_229	rs7989823	Benign	Acquired porencephaly;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage	RCV000270652;RCV000365296;RCV000307011	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C4082172;ORPHA314697;MedGen;611773;ORPHA73229;MedGen	criteria provided, single submitter	tagSNP	rs7989823
Clinvar_Rec_230	rs445348	Benign	Acquired porencephaly;not provided	RCV000387441;RCV000835694	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs445348
Clinvar_Rec_231	rs1553177678	Pathogenic	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000633978;RCV000633978;RCV000633978	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553177678
Clinvar_Rec_232	rs1060503767	Pathogenic	Paragangliomas 4	RCV000464374	MedGen;OMIM	C1861848;115310	criteria provided, single submitter	tagSNP	rs1060503767
Clinvar_Rec_233	rs6893	Benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000329079;RCV000271840	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	tagSNP	rs6893
Clinvar_Rec_234	rs6893	Benign	Parkinson Disease, Recessive;not provided;not specified	RCV000270301;RCV000992540;RCV000254305	MedGen	CN239372;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2298298
Clinvar_Rec_235	rs6893	Benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000269899;RCV000362726	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs686658
Clinvar_Rec_236	rs6893	Benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000327294;RCV000309593	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs513414
Clinvar_Rec_237	rs3200255	Benign	Hypophosphatasia;not provided;not specified	RCV000274166;RCV000710518;RCV000253870	MedGen;Orphanet	C0020630;ORPHA436;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3200255
Clinvar_Rec_238	rs3200255	Benign	Hypophosphatasia;not specified	RCV000318779;RCV000246935	MedGen;Orphanet	C0020630;ORPHA436;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75829132
Clinvar_Rec_239	rs36080251	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000392517;RCV000757376	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11552570
Clinvar_Rec_240	rs36080251	Benign/Likely benign	Dyssegmental Dysplasia;not provided	RCV000265105;RCV000992120	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112494360
Clinvar_Rec_241	rs36080251	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000262561;RCV000506205	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2229489
Clinvar_Rec_242	rs36080251	Likely benign	Dyssegmental Dysplasia	RCV000398821	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs35669711
Clinvar_Rec_243	rs36080251	Likely benign	Dyssegmental Dysplasia	RCV000318160	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs34443576
Clinvar_Rec_244	rs36080251	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000294008;RCV000289771	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12742444
Clinvar_Rec_245	rs36080251	Likely benign	Dyssegmental Dysplasia	RCV000339647	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs2229475
Clinvar_Rec_246	rs140376902	Likely pathogenic	Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive 2	RCV000697805;RCV000697805	MedGen;OMIM;OMIM;Orphanet	C3280587;614373;MedGen;605726;ORPHA139552	criteria provided, single submitter	tagSNP	rs140376902
Clinvar_Rec_247	rs111033692	Pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	RCV000022109	MedGen;OMIM;Orphanet;SNOMED CT	C0268151;230400;ORPHA79239;124354006	no assertion criteria provided	tagSNP	rs111033692
Clinvar_Rec_248	rs397507561	Pathogenic	Fanconi anemia, complementation group G	RCV000007108	MedGen;OMIM	C3469527;614082	no assertion criteria provided	tagSNP	rs397507561
Clinvar_Rec_249	rs1554746097	Likely pathogenic	Primary hyperoxaluria, type II	RCV000666459	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs1554746097
Clinvar_Rec_250	rs180177313	Likely pathogenic	Primary hyperoxaluria, type II	RCV000186450	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs180177313
Clinvar_Rec_251	rs1554749672	Uncertain significance	Primary hyperoxaluria, type II	RCV000666802	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs1554749672
Clinvar_Rec_252	rs886053711	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Dilated Cardiomyopathy, Dominant	RCV000389497;RCV000332619	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen	criteria provided, single submitter	tagSNP	rs886053711
Clinvar_Rec_253	rs782802158	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000532972;RCV000532972;RCV000532972;RCV000532972	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs782802158
Clinvar_Rec_254	rs782459426	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000695848;RCV000695848;RCV000695848;RCV000695848;RCV000592401	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782459426
Clinvar_Rec_255	rs1554708450	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000648472;RCV000648472;RCV000648472;RCV000648472	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs1554708450
Clinvar_Rec_256	rs560659799	Uncertain significance	Brown-Vialetto-Van Laere syndrome 2	RCV000650460	MedGen;OMIM	C3553538;614707	criteria provided, single submitter	tagSNP	rs560659799
Clinvar_Rec_257	rs1564792721	Uncertain significance	Baller-Gerold syndrome	RCV000707010	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1564792721
Clinvar_Rec_258	rs1554898259	Likely benign	Baller-Gerold syndrome	RCV000634389	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1554898259
Clinvar_Rec_259	rs755481980	Uncertain significance	Baller-Gerold syndrome	RCV000472636	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs755481980
Clinvar_Rec_260	rs1554902362	Uncertain significance	Baller-Gerold syndrome	RCV000634230	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1554902362
Clinvar_Rec_261	rs763330423	Likely pathogenic	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000704433;RCV000704433;RCV000704433;RCV000704433	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs763330423
Clinvar_Rec_262	rs111806457	Likely pathogenic	Dilated Cardiomyopathy, Dominant	RCV000527579	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs111806457
Clinvar_Rec_263	rs1561523716	Uncertain significance	Abnormality of the cerebral white matter;Abnormality of the corpus callosum;Delayed gross motor development;Exotropia;Generalized hypotonia;Global developmental delay;Gray matter heterotopias;Infantile spasms;Motor delay;Polymicrogyria;Polyphagia;Seizures;Unilateral polymicrogyria	RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394;RCV000735394	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;Orphanet;MedGen;MedGen;MedGen;Orphanet	HP;C0948163;Human Phenotype Ontology;C1842581;Human Phenotype Ontology;C1837658;Human Phenotype Ontology;C0015310;Human Phenotype Ontology;C1858120;Human Phenotype Ontology;C0557874;Human Phenotype Ontology;C0266491;Human Phenotype Ontology;C3887898;Human Phenotype Ontology;C1854301;Human Phenotype Ontology;C0266464;ORPHA35981;Human Phenotype Ontology;C0020505;Human Phenotype Ontology;C0036572;Human Phenotype Ontology;C4024960;ORPHA268943	criteria provided, single submitter	tagSNP	rs1561523716
Clinvar_Rec_264	rs768596219	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000665983	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	tagSNP	rs768596219
Clinvar_Rec_265	rs1394704286	Uncertain significance	NEXN-Related Disorders	RCV000778993	-	-	criteria provided, single submitter	tagSNP	rs1394704286
Clinvar_Rec_266	rs778477679	Likely benign	Cardiomyopathy	RCV000769830	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs778477679
Clinvar_Rec_267	rs759426337	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000374768	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs759426337
Clinvar_Rec_268	rs724160002	Pathogenic	Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6B	RCV000665679;RCV000149812;RCV000665679	MedGen;OMIM;OMIM;OMIM	C3553947;614870;MedGen;614871;MedGen;614871	criteria provided, single submitter	tagSNP	rs724160002
Clinvar_Rec_269	rs199794578	Uncertain significance	Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy, autosomal recessive 4;not provided	RCV000546292;RCV000546292;RCV000724237	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809309;615376;ORPHA369867;MedGen;611067;ORPHA206580;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199794578
Clinvar_Rec_270	rs140230911	Uncertain significance	Parkinson Disease, Recessive	RCV000307378	MedGen	CN239372	criteria provided, single submitter	tagSNP	rs140230911
Clinvar_Rec_271	rs777178486	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000340423	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	tagSNP	rs777178486
Clinvar_Rec_272	rs886045222	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Hereditary motor and sensory neuropathy	RCV000389870;RCV000276735	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs886045222
Clinvar_Rec_273	rs137854549	Pathogenic	Galactosialidosis, late infantile	RCV000000419	MedGen	C4017292	no assertion criteria provided	tagSNP	rs137854549
Clinvar_Rec_274	rs1569032751	Likely pathogenic	McCune-Albright syndrome	RCV000761303	MedGen;OMIM;Orphanet	C0242292;174800;ORPHA562	criteria provided, single submitter	tagSNP	rs1569032751
Clinvar_Rec_275	rs1137101	Benign	LEPTIN RECEPTOR POLYMORPHISM;Leptin receptor deficiency;Monogenic Non-Syndromic Obesity;not specified	RCV000009047;RCV000348520;RCV000281795;RCV000518727	na;MedGen;OMIM;Orphanet	C3554225;614963;ORPHA179494;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1137101
Clinvar_Rec_276	rs796052184	Likely benign	Long QT syndrome	RCV000190194	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	no assertion criteria provided	tagSNP	rs796052184
Clinvar_Rec_277	rs1131690807	Pathogenic	RAHMAN SYNDROME;not provided	RCV000492643;RCV001008411	MedGen;OMIM	C4479637;617537;MedGen	criteria provided, single submitter	tagSNP	rs1131690807
Clinvar_Rec_278	rs1061235	risk factor	Carbamazepine hypersensitivity	RCV000022618	MedGen	C3277286	no assertion criteria provided	tagSNP	rs1061235
Clinvar_Rec_279	rs117100816	Uncertain significance	Familial dysautonomia	RCV000356773	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs117100816
Clinvar_Rec_280	rs117100816	Uncertain significance	Familial dysautonomia	RCV000404294	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs117100816
Clinvar_Rec_281	rs554058303	Uncertain significance	Malignant tumor of prostate	RCV000149070	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	LD derived	rs193920798
Clinvar_Rec_282	rs781927744	Uncertain significance, drug response	Deoxygalactonojirimycin response;Fabry disease	RCV000209041;RCV000209598	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN233149;Human Phenotype Ontology;C0002986;301500;ORPHA324;16652001	no assertion criteria provided	tagSNP	rs781927744
Clinvar_Rec_283	rs7734	Benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000339448	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs7734
Clinvar_Rec_284	rs199892357	Uncertain significance	Intellectual disability	RCV000578403	Human Phenotype Ontology;MedGen	HP;C1843367	no assertion criteria provided	tagSNP	rs199892357
Clinvar_Rec_285	rs908791453	Uncertain significance	Noonan syndrome	RCV000702591	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs908791453
Clinvar_Rec_286	rs541840060	Uncertain significance	Early infantile epileptic encephalopathy 12;not provided	RCV000648431;RCV000188454	MedGen;OMIM	C3150988;613722;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs541840060
Clinvar_Rec_287	rs143340270	Uncertain significance	Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided	RCV000474935;RCV001017202;RCV000478750	MedGen;OMIM;Orphanet;SNOMED CT	C2675481;612591;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143340270
Clinvar_Rec_288	rs748444470	Uncertain significance	Colorectal cancer 10;not specified	RCV000544407;RCV000506717	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748444470
Clinvar_Rec_289	rs201212113	Uncertain significance	Colorectal cancer 10;not provided	RCV000645808;RCV000759221	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201212113
Clinvar_Rec_290	rs201212113	Uncertain significance	Colorectal cancer 10	RCV000536205	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	LD derived	rs368439344
Clinvar_Rec_291	rs1555792872	Uncertain significance	Colorectal cancer 10	RCV000548201	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555792872
Clinvar_Rec_292	rs1555791188	Likely pathogenic	Retinitis pigmentosa	RCV000505066	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs1555791188
Clinvar_Rec_293	rs1555855228	Uncertain significance	Nemaline myopathy 5	RCV000552639	MedGen;OMIM;Orphanet	C1854380;605355;ORPHA98902	criteria provided, single submitter	tagSNP	rs1555855228
Clinvar_Rec_294	rs886045067	Uncertain significance	Hyperinsulinism, Dominant	RCV000362758	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs886045067
Clinvar_Rec_295	rs886045088	Uncertain significance	Hyperinsulinism, Dominant	RCV000364535	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs886045088
Clinvar_Rec_296	rs1553192783	Pathogenic	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	RCV000656716	MedGen;OMIM;Orphanet	C4747974;618036;ORPHA521414	no assertion criteria provided	tagSNP	rs1553192783
Clinvar_Rec_297	rs545205153	Uncertain significance	Jalili syndrome;not provided	RCV000344905;RCV000173493	MedGen;OMIM;Orphanet	C3495589;217080;ORPHA1873;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs545205153
Clinvar_Rec_298	rs1554747447	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000541316	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1554747447
Clinvar_Rec_299	rs553887467	Benign	Cardio-facio-cutaneous syndrome;Noonan syndrome;Noonan syndrome with multiple lentigines;Rasopathy;not provided;not specified	RCV000372942;RCV000278773;RCV000318318;RCV000033301;RCV000858597;RCV000037913	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C1275081;ORPHA1340;403770008;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA500;MedGen;ORPHA536391;MedGen	reviewed by expert panel	LD derived	rs56216404
Clinvar_Rec_300	rs745791461	Uncertain significance	Branchiootorenal Spectrum Disorders;Nonsyndromic Hearing Loss, Dominant	RCV000306559;RCV000363458	MedGen	CN043574;MedGen	criteria provided, single submitter	tagSNP	rs745791461
Clinvar_Rec_301	rs886050636	Uncertain significance	Pheochromocytoma	RCV000260135	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs886050636
Clinvar_Rec_302	rs1555396056	Uncertain significance	Hereditary spastic paraplegia 15	RCV000674931	MedGen;OMIM;Orphanet	C1849128;270700;ORPHA100996	criteria provided, single submitter	tagSNP	rs1555396056
Clinvar_Rec_303	rs1470672632	Likely pathogenic	Hereditary spastic paraplegia 15	RCV000671769	MedGen;OMIM;Orphanet	C1849128;270700;ORPHA100996	criteria provided, single submitter	tagSNP	rs1470672632
Clinvar_Rec_304	rs17182488	Likely benign	Primary ciliary dyskinesia	RCV000341300	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs17182488
Clinvar_Rec_305	rs1218964632	Likely benign	Epilepsy, familial focal, with variable foci 3	RCV000653303	MedGen;OMIM	C4310708;617118	criteria provided, single submitter	tagSNP	rs1218964632
Clinvar_Rec_306	rs546106364	Uncertain significance	Myopathy, centronuclear, 4	RCV000704328	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	LD derived	rs371030168
Clinvar_Rec_307	rs753650660	Uncertain significance	Epilepsy	RCV000630786	MeSH;MedGen;Orphanet	D004827;C0014544;ORPHA166463	criteria provided, single submitter	tagSNP	rs753650660
Clinvar_Rec_308	rs774660673	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000635020;RCV000635020	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs774660673
Clinvar_Rec_309	rs559949275	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001026603;RCV000467398;RCV000427827	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs45517125
Clinvar_Rec_310	rs559949275	not provided	Tuberous sclerosis syndrome	RCV000043181	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	LD derived	rs45517125
Clinvar_Rec_311	rs137854218	Pathogenic	Hereditary cancer-predisposing syndrome;Lymphangiomyomatosis;Tuberous sclerosis 2;Tuberous sclerosis syndrome;Tuberous sclerosis syndrome;not provided	RCV000491359;RCV000055053;RCV000013211;RCV000043162;RCV000055053;RCV000483802	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;606690;ORPHA538;73017001;MedGen;613254;MedGen;ORPHA805;7199000;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs137854218
Clinvar_Rec_312	rs1060500973	Uncertain significance	Tuberous sclerosis 2	RCV000475486	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1060500973
Clinvar_Rec_313	rs7203729	Benign	Polycystic kidney disease, adult type;not specified	RCV000576352;RCV000253111	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7203729
Clinvar_Rec_314	rs200101621	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000564551;RCV000474480	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141486629
Clinvar_Rec_315	rs200101621	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001016131;RCV000545715;RCV000601265	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141486629
Clinvar_Rec_316	rs1060502502	Uncertain significance	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1	RCV000477080;RCV000477080;RCV000477080	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063	criteria provided, single submitter	tagSNP	rs1060502502
Clinvar_Rec_317	rs4786287	Benign	Myoclonic epilepsy, familial infantile	RCV000268374	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	tagSNP	rs4786287
Clinvar_Rec_318	rs577306533	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000374268	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	LD derived	rs545082961
Clinvar_Rec_319	rs75773027	Likely benign	Fanconi anemia	RCV000364522	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs75773027
Clinvar_Rec_320	rs75773027	Likely benign	Fanconi anemia	RCV000353124	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs75146816
Clinvar_Rec_321	rs75773027	Likely benign	Fanconi anemia	RCV000341228	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs76661336
Clinvar_Rec_322	rs75773027	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000266398;RCV000857410;RCV000252998	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3827530
Clinvar_Rec_323	rs75773027	Benign/Likely benign	Fanconi anemia;not specified	RCV000345444;RCV000243947	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78637028
Clinvar_Rec_324	rs75773027	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000311234;RCV000857411;RCV000248623	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74640850
Clinvar_Rec_325	rs3751839	Benign/Likely benign	Fanconi anemia;not specified	RCV000305992;RCV000249184	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3751839
Clinvar_Rec_326	rs143247685	Benign/Likely benign	History of neurodevelopmental disorder;Rubinstein-Taybi syndrome 1;not provided;not specified	RCV000716234;RCV000022942;RCV000421582;RCV000145728	MedGen;OMIM;Orphanet	C2711754;MedGen;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143247685
Clinvar_Rec_327	rs143247685	Benign/Likely benign	History of neurodevelopmental disorder;not specified	RCV000718603;RCV000120591	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143247685
Clinvar_Rec_328	rs1567598260	Uncertain significance	Kohlschutter's syndrome	RCV000695801	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs1567598260
Clinvar_Rec_329	rs886052037	Uncertain significance	Kohlschutter's syndrome	RCV000286978	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs886052037
Clinvar_Rec_330	rs45615432	Likely benign	Gamma-aminobutyric acid transaminase deficiency	RCV000401084	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs45615432
Clinvar_Rec_331	rs45615432	Likely benign	Gamma-aminobutyric acid transaminase deficiency	RCV000319883	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	LD derived	rs2270289
Clinvar_Rec_332	rs45615432	Likely benign	Gamma-aminobutyric acid transaminase deficiency	RCV000340779	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	LD derived	rs45515994
Clinvar_Rec_333	rs45615432	Likely benign	Gamma-aminobutyric acid transaminase deficiency	RCV000390017	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	LD derived	rs9456
Clinvar_Rec_334	rs45615432	Likely benign	Gamma-aminobutyric acid transaminase deficiency	RCV000336177	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	LD derived	rs8275
Clinvar_Rec_335	rs104894534	Likely pathogenic	Congenital disorder of glycosylation, type Ia	RCV000008164	MedGen;OMIM;Orphanet	C0349653;212065;ORPHA79318	criteria provided, single submitter	tagSNP	rs104894534
Clinvar_Rec_336	rs71388711	Benign	Charcot-Marie-Tooth disease, type I	RCV000389695	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	LD derived	rs12921437
Clinvar_Rec_337	rs11547793	Likely benign	Limb-Girdle Muscular Dystrophy, Recessive	RCV000405359	MedGen	CN239352	criteria provided, single submitter	tagSNP	rs11547793
Clinvar_Rec_338	rs886050882	Uncertain significance	Autosomal recessive cerebellar ataxia	RCV000395893	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	tagSNP	rs886050882
Clinvar_Rec_339	rs1553466026	Uncertain significance	Autosomal recessive centronuclear myopathy	RCV000545195	MedGen;OMIM;Orphanet;SNOMED CT	C0410204;255200;ORPHA169186;240081004	criteria provided, single submitter	tagSNP	rs1553466026
Clinvar_Rec_340	rs570664184	Uncertain significance	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not provided	RCV000524716;RCV000524716;RCV000757107	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen;166200;ORPHA216796;385482004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs550867796
Clinvar_Rec_341	rs1553394366	Pathogenic	Spastic paraplegia 4, autosomal dominant	RCV000550986	MedGen;OMIM;Orphanet	C1866855;182601;ORPHA100985	criteria provided, single submitter	tagSNP	rs1553394366
Clinvar_Rec_342	rs149710810	Benign	Noonan syndrome	RCV000156994	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	no assertion criteria provided	LD derived	rs7577088
Clinvar_Rec_343	rs149710810	Benign	Noonan syndrome;not specified	RCV000157031;RCV000253007	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs997344
Clinvar_Rec_344	rs145529594	Conflicting interpretations of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive;Seizures;not provided;not specified	RCV000315828;RCV000715651;RCV000548248;RCV000186638	MedGen;MedGen	CN239323;Human Phenotype Ontology;C0036572;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145529594
Clinvar_Rec_345	rs544835565	Likely benign	Multiple endocrine neoplasia	RCV000404623	MedGen;Orphanet;SNOMED CT	C0027662;ORPHA276161;46724008	criteria provided, single submitter	tagSNP	rs544835565
Clinvar_Rec_346	rs886061299	Uncertain significance	Trichohepatoenteric syndrome	RCV000304806	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	tagSNP	rs886061299
Clinvar_Rec_347	rs1554304254	Likely pathogenic	Mental retardation, autosomal dominant 5	RCV000585865	MedGen;OMIM	C2675473;612621	criteria provided, single submitter	tagSNP	rs1554304254
Clinvar_Rec_348	rs730880262	Pathogenic	Three M syndrome 1	RCV000001685	MedGen;OMIM	C1848862;273750	no assertion criteria provided	tagSNP	rs730880262
Clinvar_Rec_349	rs886045779	Uncertain significance	Primary Microcephaly, Recessive	RCV000391899	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886045779
Clinvar_Rec_350	rs761447719	Likely pathogenic	Primary autosomal recessive microcephaly 5	RCV000490408	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs761447719
Clinvar_Rec_351	rs794726878	Conflicting interpretations of pathogenicity	Hurler syndrome;not provided	RCV000592086;RCV000724295	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448;MedGen	criteria provided, conflicting interpretations	tagSNP	rs794726878
Clinvar_Rec_352	rs869025584	Pathogenic	Hurler syndrome;Mucopolysaccharidosis type 1;not provided	RCV000672514;RCV000208593;RCV000592964	MedGen;OMIM;Orphanet;Orphanet	C0086795;607014;ORPHA93448;MedGen;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025584
Clinvar_Rec_353	rs886059494	Uncertain significance	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000334214;RCV000259868	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs886059494
Clinvar_Rec_354	rs886059523	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000371417;RCV000260447	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886059523
Clinvar_Rec_355	rs797045121	Pathogenic	Nager syndrome	RCV000190847	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007	no assertion criteria provided	tagSNP	rs797045121
Clinvar_Rec_356	rs387907185	Pathogenic	Nager syndrome	RCV000024344	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007	no assertion criteria provided	tagSNP	rs387907185
Clinvar_Rec_357	rs112630127	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive;Severe autosomal recessive muscular dystrophy of childhood - North African type	RCV000369399;RCV000277123	MedGen;OMIM;Orphanet;SNOMED CT	CN239352;MedGen;253700;ORPHA353;240056002	criteria provided, single submitter	LD derived	rs115918628
Clinvar_Rec_358	rs1554059509	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency	RCV000669845	MedGen;OMIM;Orphanet;SNOMED CT	C0342870;261515;ORPHA300;238068007	criteria provided, single submitter	tagSNP	rs1554059509
Clinvar_Rec_359	rs74315406	Pathogenic	Genetic prion diseases;Gerstmann-Straussler-Scheinker syndrome	RCV000020256;RCV000014341	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0162534;ORPHA56970;MedGen;137440;ORPHA356;67155006	no assertion criteria provided	tagSNP	rs74315406
Clinvar_Rec_360	rs1790334	Benign	History of neurodevelopmental disorder;Smith-Lemli-Opitz syndrome;not specified	RCV000715209;RCV000368185;RCV000079649	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;270400;ORPHA818;43929004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1790334
Clinvar_Rec_361	rs949323	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000343916;RCV000712230;RCV000037017	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12272086
Clinvar_Rec_362	rs949323	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000353831	MedGen	CN239439	criteria provided, single submitter	LD derived	rs73543612
Clinvar_Rec_363	rs76455588	Benign/Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not provided;not specified	RCV000408244;RCV000309648;RCV000350452;RCV000315569;RCV000676145;RCV000254128	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76455588
Clinvar_Rec_364	rs730880291	Pathogenic	Epileptic encephalopathy, early infantile, 28	RCV000157087	MedGen;OMIM	C4015519;616211	no assertion criteria provided	tagSNP	rs730880291
Clinvar_Rec_365	rs587784507	Uncertain significance	Cortical dysplasia, complex, with other brain malformations 1	RCV000147857	MedGen;OMIM;Orphanet	C3808397;614039;ORPHA300570	criteria provided, single submitter	tagSNP	rs587784507
Clinvar_Rec_366	rs117502632	Likely benign	Cutis laxa, recessive	RCV000299989	MedGen	C2931134	criteria provided, single submitter	tagSNP	rs117502632
Clinvar_Rec_367	rs117502632	Benign/Likely benign	Cutis laxa, autosomal dominant 3;Cutis laxa, recessive;Cutis laxa-corneal clouding-oligophrenia syndrome;Hereditary spastic paraplegia 9A;not specified	RCV000540065;RCV000398707;RCV000540065;RCV000540065;RCV000425228	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	C4225268;616603;MedGen;219150;ORPHA2962;238826008;59252009;MedGen;601162;ORPHA447753;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11541780
Clinvar_Rec_368	rs555951352	Likely benign	Renal Hypomagnesemia, Dominant	RCV000319165	MedGen	CN239436	criteria provided, single submitter	tagSNP	rs555951352
Clinvar_Rec_369	rs1568690276	Uncertain significance	Peutz-Jeghers syndrome	RCV000709571	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1568690276
Clinvar_Rec_370	rs1568707668	Uncertain significance	Peutz-Jeghers syndrome	RCV000698721	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1568707668
Clinvar_Rec_371	rs886037859	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000492112;RCV000241351	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, conflicting interpretations	tagSNP	rs886037859
Clinvar_Rec_372	rs1568709214	Uncertain significance	Peutz-Jeghers syndrome	RCV000689966	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1568709214
Clinvar_Rec_373	rs762810203	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV001017134;RCV000469680	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs762810203
Clinvar_Rec_374	rs757815836	Uncertain significance	Peutz-Jeghers syndrome	RCV000458847	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs757815836
Clinvar_Rec_375	rs786201330	Likely benign	Hereditary cancer-predisposing syndrome	RCV000163394	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201330
Clinvar_Rec_376	rs113298601	Likely benign	Peutz-Jeghers syndrome	RCV000324682	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	LD derived	rs149756065
Clinvar_Rec_377	rs202199674	Uncertain significance	Cerebral creatine deficiency syndrome	RCV000655359	MedGen;Orphanet	CN227588;ORPHA79172	criteria provided, single submitter	tagSNP	rs202199674
Clinvar_Rec_378	rs200833152	Conflicting interpretations of pathogenicity	Guanidinoacetate methyltransferase (GAMT) deficiency;History of neurodevelopmental disorder;not provided;not specified	RCV001009545;RCV000718439;RCV000224880;RCV000153308	MedGen	C2748618;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200833152
Clinvar_Rec_379	rs1555698682	Uncertain significance	Rasopathy	RCV000654954	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs1555698682
Clinvar_Rec_380	rs1135401787	Likely pathogenic	Cardiofaciocutaneous syndrome 4	RCV000496536	MedGen;OMIM	C3809007;615280	no assertion criteria provided	tagSNP	rs1135401787
Clinvar_Rec_381	rs398123033	Pathogenic	Perrault syndrome 3	RCV000049282	MedGen;OMIM	C3808414;614129	no assertion criteria provided	tagSNP	rs398123033
Clinvar_Rec_382	rs1568431262	Pathogenic	Severe combined immunodeficiency due to CD70 deficiency	RCV000735976	MedGen;OMIM;Orphanet	C4748863;618261;ORPHA538958	no assertion criteria provided	tagSNP	rs1568431262
Clinvar_Rec_383	rs144567470	Likely benign	Dementia, Deafness, and Sensory Neuropathy;not provided	RCV000365401;RCV000649389	MedGen	CN239189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144567470
Clinvar_Rec_384	rs766504703	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000694576	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs766504703
Clinvar_Rec_385	rs189898346	Likely benign	Dementia, Deafness, and Sensory Neuropathy;not specified	RCV000401791;RCV000252889	MedGen	CN239189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs189898346
Clinvar_Rec_386	rs750764159	Likely benign	Tyrosine kinase 2 deficiency	RCV000645248	MedGen;OMIM;Orphanet	C1969086;611521;ORPHA331226	criteria provided, single submitter	tagSNP	rs750764159
Clinvar_Rec_387	rs752014734	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate B	RCV000698886	MedGen;OMIM;Orphanet	C1847902;606482;ORPHA100044	criteria provided, single submitter	tagSNP	rs752014734
Clinvar_Rec_388	rs780424104	Pathogenic	Rhabdoid tumor predisposition syndrome 2	RCV000533033	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs780424104
Clinvar_Rec_389	rs568390760	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567903;RCV000229477;RCV000122063	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs568390760
Clinvar_Rec_390	rs1555754852	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562694	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555754852
Clinvar_Rec_391	rs547268941	Benign/Likely benign	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000297305;RCV000562420;RCV000205491;RCV000193950	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs547268941
Clinvar_Rec_392	rs775843321	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000565403;RCV000230158	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs775843321
Clinvar_Rec_393	rs1568440731	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000694365	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1568440731
Clinvar_Rec_394	rs1555763953	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574555	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555763953
Clinvar_Rec_395	rs754483795	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566257	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs754483795
Clinvar_Rec_396	rs1555785056	Likely pathogenic	Rhabdoid tumor predisposition syndrome 2	RCV000646878	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555785056
Clinvar_Rec_397	rs1555785383	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000646865	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555785383
Clinvar_Rec_398	rs61761958	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562979;RCV000466290	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61761958
Clinvar_Rec_399	rs61761958	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000569938;RCV000227439;RCV000613958	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61761958
Clinvar_Rec_400	rs61761958	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000564684;RCV000231118;RCV000608789	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61761957
Clinvar_Rec_401	rs1555795056	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000526294	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555795056
Clinvar_Rec_402	rs755493468	Uncertain significance	Hereditary cancer-predisposing syndrome;Mental retardation, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2;Rhabdoid tumor predisposition syndrome 2	RCV000574151;RCV000765427;RCV000528180;RCV000765427	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;OMIM	C0027672;ORPHA140162;699346009;MedGen;614609;MedGen;613325;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs755493468
Clinvar_Rec_403	rs1555796263	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000565377;RCV000540620	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555796263
Clinvar_Rec_404	rs763282380	Uncertain significance	Familial hypercholesterolemia 1	RCV000237390	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs763282380
Clinvar_Rec_405	rs879254388	Pathogenic	Familial hypercholesterolemia 1	RCV000237350	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254388
Clinvar_Rec_406	rs879254388	Pathogenic	Familial hypercholesterolemia 1	RCV000237928	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254388
Clinvar_Rec_407	rs879254519	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238073	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254519
Clinvar_Rec_408	rs879254521	Pathogenic	Familial hypercholesterolemia 1	RCV000238129	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254521
Clinvar_Rec_409	rs875989901	Likely pathogenic	Familial hypercholesterolemia 1	RCV000211684	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs875989901
Clinvar_Rec_410	rs875989901	Pathogenic/Likely pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000775039;RCV000237201	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989901
Clinvar_Rec_411	rs879254528	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237527	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254528
Clinvar_Rec_412	rs1555803908	Likely pathogenic	Familial hypercholesterolemia 1	RCV000627179	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1555803908
Clinvar_Rec_413	rs879254736	Pathogenic	Familial hypercholesterolemia 1	RCV000237976	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254736
Clinvar_Rec_414	rs1568600400	Likely benign	Familial hypercholesterolemia	RCV000772356	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs1568600400
Clinvar_Rec_415	rs1555806467	Pathogenic	Familial hypercholesterolemia 1	RCV000508964	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555806467
Clinvar_Rec_416	rs879255120	Pathogenic	Familial hypercholesterolemia 1	RCV000238095	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255120
Clinvar_Rec_417	rs879255119	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237612	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255119
Clinvar_Rec_418	rs1555807435	Uncertain significance	Familial hypercholesterolemia 1	RCV000509164	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1555807435
Clinvar_Rec_419	rs757957327	Pathogenic	Polycystic liver disease 1	RCV000014145	MedGen;OMIM	C0887850;174050	no assertion criteria provided	tagSNP	rs757957327
Clinvar_Rec_420	rs1290585382	Uncertain significance	Deficiency of alpha-mannosidase	RCV000670726	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1290585382
Clinvar_Rec_421	rs1555710357	Uncertain significance	Deficiency of alpha-mannosidase	RCV000673831	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1555710357
Clinvar_Rec_422	rs1555710357	Uncertain significance	Deficiency of alpha-mannosidase	RCV000669848	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1555710357
Clinvar_Rec_423	rs150008398	Uncertain significance	Aicardi Goutieres syndrome 4	RCV000706691	MedGen;OMIM	C1835912;610333	criteria provided, single submitter	tagSNP	rs150008398
Clinvar_Rec_424	rs753037271	Likely benign	History of neurodevelopmental disorder	RCV000719637	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs753037271
Clinvar_Rec_425	rs897172	Benign	Meier-Gorlin syndrome 2;not specified	RCV000986824;RCV000146999	MedGen;OMIM	C3151097;613800;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2307394
Clinvar_Rec_426	rs1057518860	Uncertain significance	Muscle weakness;Proximal muscle weakness	RCV000414831;RCV000414831	Human Phenotype Ontology;MedGen;MedGen	HP;C0151786;Human Phenotype Ontology;C0221629	criteria provided, single submitter	tagSNP	rs1057518860
Clinvar_Rec_427	rs1554138819	Pathogenic	Treacher Collins syndrome 1;not provided	RCV000557664;RCV001008793	MedGen;OMIM	CN119605;154500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554138819
Clinvar_Rec_428	rs151344580	Likely benign	Treacher Collins syndrome 1	RCV000190958	MedGen;OMIM	CN119605;154500	no assertion criteria provided	tagSNP	rs151344580
Clinvar_Rec_429	rs153477	Benign	Tay-Sachs disease, variant AB;not provided;not specified	RCV000376352;RCV000675621;RCV000153332	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs153477
Clinvar_Rec_430	rs153478	Benign	Tay-Sachs disease, variant AB;not provided;not specified	RCV000286625;RCV000675622;RCV000153333	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs153478
Clinvar_Rec_431	rs1566591086	Pathogenic	Ectodermal dysplasia and immunodeficiency 2	RCV000721150	MedGen;OMIM	C2677481;612132	no assertion criteria provided	tagSNP	rs1566591086
Clinvar_Rec_432	rs771771098	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5	RCV000667680	MedGen;OMIM	C3554656;615190	criteria provided, single submitter	tagSNP	rs771771098
Clinvar_Rec_433	rs2738787	Benign	Dyskeratosis congenita, autosomal recessive, 5;not specified	RCV000990342;RCV000454695	MedGen;OMIM	C3554656;615190;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2738787
Clinvar_Rec_434	rs750302498	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000348548	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs750302498
Clinvar_Rec_435	rs1300977671	Uncertain significance	Acute myeloid leukemia	RCV000690829	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs1300977671
Clinvar_Rec_436	rs1387400759	Likely benign	Acute myeloid leukemia	RCV000631439	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs1387400759
Clinvar_Rec_437	rs147375991	Uncertain significance	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	RCV000318307	MedGen;OMIM	C4721893;221770	criteria provided, single submitter	LD derived	rs113207157
Clinvar_Rec_438	rs201258123	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000394764	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs540526276
Clinvar_Rec_439	rs1555765564	Pathogenic	Ethylmalonic encephalopathy	RCV000598620	MedGen;OMIM;Orphanet	C1865349;602473;ORPHA51188	no assertion criteria provided	tagSNP	rs1555765564
Clinvar_Rec_440	rs780594684	Uncertain significance	Paroxysmal nonkinesigenic dyskinesia 1	RCV000644969	MedGen;OMIM	C4551506;118800	criteria provided, single submitter	tagSNP	rs780594684
Clinvar_Rec_441	rs1553595166	Uncertain significance	GRACILE syndrome	RCV000671957	MedGen;OMIM;Orphanet	C1864002;603358;ORPHA53693	criteria provided, single submitter	tagSNP	rs1553595166
Clinvar_Rec_442	rs886051891	Uncertain significance	HNSHA due to aldolase A deficiency	RCV000286922	MedGen;OMIM;Orphanet;SNOMED CT	C0272066;611881;ORPHA57;111578003	criteria provided, single submitter	tagSNP	rs886051891
Clinvar_Rec_443	rs4889506	Benign	Floating-Harbor syndrome;not provided	RCV000406978;RCV000947694	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs58723456
Clinvar_Rec_444	rs4889506	Benign	Glycogen phosphorylase kinase deficiency	RCV000407851	MedGen;Orphanet;SNOMED CT	C0268147;ORPHA370;235908005	criteria provided, single submitter	LD derived	rs11863277
Clinvar_Rec_445	rs929867	Benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000307180	MedGen	CN239175	criteria provided, single submitter	tagSNP	rs929867
Clinvar_Rec_446	rs746633090	Uncertain significance	Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4;not provided	RCV000688814;RCV000688814;RCV000599450	MedGen;OMIM;OMIM	C1842675;608030;MedGen;614782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746633090
Clinvar_Rec_447	rs1555155252	Pathogenic	COFFIN-SIRIS SYNDROME 6	RCV000520055	MedGen;OMIM	C4540499;617808	no assertion criteria provided	tagSNP	rs1555155252
Clinvar_Rec_448	rs1555194236	Likely pathogenic	Kabuki syndrome 1	RCV000659726	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs1555194236
Clinvar_Rec_449	rs1057725	Benign	Lissencephaly, Dominant;not provided;not specified	RCV000345771;RCV000714139;RCV000147809	MedGen	CN239306;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs697624
Clinvar_Rec_450	rs1057725	Benign/Likely benign	Lissencephaly, Dominant;not provided;not specified	RCV000392798;RCV000714138;RCV000147806	MedGen	CN239306;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1056875
Clinvar_Rec_451	rs1565627040	Pathogenic	Tubulinopathies	RCV000767467	MedGen	CN850169	criteria provided, single submitter	tagSNP	rs1565627040
Clinvar_Rec_452	rs1555961852	Pathogenic	Retinal dystrophy;Retinitis pigmentosa;Retinitis pigmentosa 15;not provided	RCV001074872;RCV000505150;RCV000678620;RCV000599226	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen;300029;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555961852
Clinvar_Rec_453	rs12758915	Likely benign	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease	RCV000286071;RCV000343392	MedGen;Orphanet	CN239310;MedGen;ORPHA1020	criteria provided, single submitter	tagSNP	rs12758915
Clinvar_Rec_454	rs12758915	Benign/Likely benign	Alzheimer disease, type 4;Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease;not specified	RCV000576502;RCV000378064;RCV000342061;RCV000244764	MedGen;OMIM;Orphanet	C1847200;606889;MedGen;ORPHA1020;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6759
Clinvar_Rec_455	rs12758915	Benign/Likely benign	Alzheimer disease, type 4;Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease;not specified	RCV000576709;RCV000394749;RCV000343972;RCV000247730	MedGen;OMIM;Orphanet	C1847200;606889;MedGen;ORPHA1020;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1046240
Clinvar_Rec_456	rs12758915	Likely benign	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease	RCV000386193;RCV000331661	MedGen;Orphanet	CN239310;MedGen;ORPHA1020	criteria provided, single submitter	LD derived	rs8383
Clinvar_Rec_457	rs121909528	Pathogenic	Myopathy, actin, congenital, with cores	RCV000019950	MedGen	C2750537	no assertion criteria provided	tagSNP	rs121909528
Clinvar_Rec_458	rs756211725	Uncertain significance	Familial erythrocytosis	RCV000360142	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs756211725
Clinvar_Rec_459	rs2853522	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000369614	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs2853522
Clinvar_Rec_460	rs2853522	Benign	Disorders of Intracellular Cobalamin Metabolism;not specified	RCV000320660;RCV000126863	MedGen	CN043592;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1131449
Clinvar_Rec_461	rs2853522	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000320905	MedGen	CN043592	criteria provided, single submitter	LD derived	rs6676866
Clinvar_Rec_462	rs2853522	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000405275	MedGen	CN043592	criteria provided, single submitter	LD derived	rs4659746
Clinvar_Rec_463	rs9779	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000369642	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs9779
Clinvar_Rec_464	rs8539	Benign	Spastic paraplegia, autosomal dominant;not provided;not specified	RCV000291547;RCV000860062;RCV000117240	MedGen	CN239430;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8539
Clinvar_Rec_465	rs568136148	Likely benign	Primary pulmonary hypertension	RCV000368986	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs568136148
Clinvar_Rec_466	rs1801318	Benign/Likely benign	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	RCV000358690;RCV000301574;RCV000676271;RCV000117709	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801318
Clinvar_Rec_467	rs78778622	risk factor	Autoimmune disease 6	RCV000001417	MedGen;OMIM	C3150797;613551	no assertion criteria provided	tagSNP	rs78778622
Clinvar_Rec_468	rs137852736	Pathogenic	Charcot-Marie-Tooth disease;Hereditary sensory and autonomic neuropathy type IIA;not provided	RCV000789750;RCV000020419;RCV000794306	MedGen;Orphanet;SNOMED CT;OMIM	C0007959;ORPHA166;50548001;MedGen;201300;MedGen	criteria provided, single submitter	tagSNP	rs137852736
Clinvar_Rec_469	rs751125107	Uncertain significance	Partial albinism;Waardenburg syndrome	RCV000267513;RCV000324909	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0080024;172800;ORPHA2884;6479008;MedGen;ORPHA3440;47434006	criteria provided, single submitter	tagSNP	rs751125107
Clinvar_Rec_470	rs71622515	Conflicting interpretations of pathogenicity	Congenital cataract;not specified	RCV000277445;RCV000245683	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs71622515
Clinvar_Rec_471	rs121918136	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	RCV000000452	MedGen;OMIM	C4748790;618240	no assertion criteria provided	tagSNP	rs121918136
Clinvar_Rec_472	rs886058668	Uncertain significance	Mitochondrial complex I deficiency	RCV000278447	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs886058668
Clinvar_Rec_473	rs72553873	Conflicting interpretations of pathogenicity	Carnitine acylcarnitine translocase deficiency;not specified	RCV000390894;RCV000417763	MedGen;OMIM;Orphanet;SNOMED CT	C0342791;212138;ORPHA159;238003000;MedGen	criteria provided, conflicting interpretations	LD derived	rs542582794
Clinvar_Rec_474	rs546461860	Uncertain significance	Nephrotic syndrome;Pierson syndrome	RCV000326653;RCV000381797	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0027726;52254009;MedGen;609049;ORPHA2670	criteria provided, single submitter	tagSNP	rs546461860
Clinvar_Rec_475	rs768983113	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided	RCV001036264;RCV001036264;RCV000728184	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768983113
Clinvar_Rec_476	rs149838438	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided	RCV000534438;RCV000534438;RCV000658321	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149838438
Clinvar_Rec_477	rs1436774690	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	RCV000694145;RCV000694145	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997	criteria provided, single submitter	tagSNP	rs1436774690
Clinvar_Rec_478	rs1559584490	Likely benign	Hereditary cancer-predisposing syndrome	RCV000775960	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1559584490
Clinvar_Rec_479	rs1226165465	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000561544;RCV000685945	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs1226165465
Clinvar_Rec_480	rs753767419	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773141	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs753767419
Clinvar_Rec_481	rs1183229867	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568696	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1183229867
Clinvar_Rec_482	rs1553646425	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581507	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553646425
Clinvar_Rec_483	rs1829556	Benign	Robinow syndrome, autosomal dominant 1	RCV000275582	MedGen;OMIM;Orphanet	C4551475;180700;ORPHA97360	criteria provided, single submitter	tagSNP	rs1829556
Clinvar_Rec_484	rs2362903	Benign/Likely benign	FLNB-Related Spectrum Disorders;not specified	RCV000296871;RCV000242336	MedGen	CN239400;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2362903
Clinvar_Rec_485	rs1553703909	Likely pathogenic	Spondylocarpotarsal synostosis syndrome	RCV000677698	MedGen;OMIM;Orphanet	C1848934;272460;ORPHA3275	criteria provided, single submitter	tagSNP	rs1553703909
Clinvar_Rec_486	rs397516608	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000601508	MedGen;OMIM	C2750995;613172	no assertion criteria provided	tagSNP	rs397516608
Clinvar_Rec_487	rs397516608	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1DD;not provided;not specified	RCV000201452;RCV000647154;RCV000766482;RCV000036974	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;613172;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516608
Clinvar_Rec_488	rs1405717595	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related	RCV000648844;RCV000648844	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340	criteria provided, single submitter	tagSNP	rs1405717595
Clinvar_Rec_489	rs375972814	Benign	Non-syndromic X-linked intellectual disability	RCV000398835	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs375972814
Clinvar_Rec_490	rs190496263	Conflicting interpretations of pathogenicity	Mucopolysaccharidosis type 7;not provided	RCV000293404;RCV000873847	MedGen;OMIM;Orphanet	C0085132;253220;ORPHA584;MedGen	criteria provided, conflicting interpretations	tagSNP	rs190496263
Clinvar_Rec_491	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000323024	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791712
Clinvar_Rec_492	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000361429	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791713
Clinvar_Rec_493	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000266102	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs1860469
Clinvar_Rec_494	rs571984746	Uncertain significance	Progressive myoclonic epilepsy	RCV000294736	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs565110569
Clinvar_Rec_495	rs10570041	Benign	Progressive myoclonic epilepsy	RCV000323024	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791712
Clinvar_Rec_496	rs10570041	Benign	Progressive myoclonic epilepsy	RCV000361429	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791713
Clinvar_Rec_497	rs10570041	Benign	Progressive myoclonic epilepsy	RCV000266102	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs1860469
Clinvar_Rec_498	rs10489432	Likely benign	Lethal tight skin contracture syndrome;Mandibuloacral dysplasia;not provided	RCV000344466;RCV000392477;RCV000128711	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0406585;275210;ORPHA1662;400128006;MedGen;ORPHA2457;109419009;MedGen	criteria provided, single submitter	tagSNP	rs10489432
Clinvar_Rec_499	rs587784393	Pathogenic	GLUT1 deficiency syndrome 1	RCV000147524	MedGen;OMIM	C4551966;606777	criteria provided, single submitter	tagSNP	rs587784393
Clinvar_Rec_500	rs796053272	Pathogenic	Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;Stomatin-deficient cryohydrocytosis with neurologic defects;not provided	RCV000850603;RCV000850603;RCV000850603;RCV000850603;RCV000850603;RCV000189392	MedGen;OMIM;Orphanet;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1832855;601042;ORPHA53583;MedGen;614847;MedGen;606777;MedGen;612126;ORPHA98811;MedGen;608885;ORPHA168577;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053272
Clinvar_Rec_501	rs11547889	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000698609;RCV000698609;RCV000698609;RCV000698609	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs11547889
Clinvar_Rec_502	rs199890548	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000229494;RCV000229494;RCV000229494;RCV000229494	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs199890548
Clinvar_Rec_503	rs118204099	Pathogenic	Acute intermittent porphyria	RCV000001515	MedGen;OMIM;Orphanet;SNOMED CT	C0162565;176000;ORPHA79276;234422006	no assertion criteria provided	tagSNP	rs118204099
Clinvar_Rec_504	rs559286032	Uncertain significance	Sanfilippo syndrome	RCV000397652	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs559286032
Clinvar_Rec_505	rs1560120302	Pathogenic	Diamond-Blackfan anemia 5	RCV000707343	MedGen;OMIM	C2675859;612528	criteria provided, single submitter	tagSNP	rs1560120302
Clinvar_Rec_506	rs1554294478	Pathogenic	Ciliary dyskinesia, primary, 7	RCV000006849	MedGen;OMIM	C2678473;611884	no assertion criteria provided	tagSNP	rs1554294478
Clinvar_Rec_507	rs369256181	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000558452;RCV000164888	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs369256181
Clinvar_Rec_508	rs886057476	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000302322;RCV000340801	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs886057476
Clinvar_Rec_509	rs750188842	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000352278;RCV000388129	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs750188842
Clinvar_Rec_510	rs35282133	Benign/Likely benign	Glucocorticoid deficiency with achalasia;not provided	RCV000404740;RCV000886860	MedGen;OMIM;Orphanet;SNOMED CT	C0271742;231550;ORPHA869;45414006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35282133
Clinvar_Rec_511	rs35282133	Benign/Likely benign	Glucocorticoid deficiency with achalasia;not provided	RCV000343022;RCV000886859	MedGen;OMIM;Orphanet;SNOMED CT	C0271742;231550;ORPHA869;45414006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34451260
Clinvar_Rec_512	rs483353023	Likely pathogenic	Chronic progressive multiple sclerosis	RCV000122442	MedGen;SNOMED CT	C0393665;230373008	no assertion criteria provided	tagSNP	rs483353023
Clinvar_Rec_513	rs397518454	Pathogenic	Amyotrophic lateral sclerosis 20	RCV000055651	MedGen;OMIM	C3715156;615426	no assertion criteria provided	tagSNP	rs397518454
Clinvar_Rec_514	rs1802236	Benign	Immunodeficiency 44;not specified	RCV000559305;RCV000455792	MedGen;OMIM;Orphanet	C4225260;616636;ORPHA431166;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2066807
Clinvar_Rec_515	rs771234928	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561965	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs771234928
Clinvar_Rec_516	rs368081942	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001025942;RCV000827186	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368081942
Clinvar_Rec_517	rs1060504383	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000563118;RCV000458014	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504383
Clinvar_Rec_518	rs1555201374	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000576118	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555201374
Clinvar_Rec_519	rs863224320	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001011448;RCV000198133	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224320
Clinvar_Rec_520	rs200116659	Uncertain significance	Primary dilated cardiomyopathy;not specified	RCV000463516;RCV000213979	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200116659
Clinvar_Rec_521	rs368645018	Likely benign	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A	RCV000407840;RCV000352410	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs368645018
Clinvar_Rec_522	rs139068225	Uncertain significance	Temtamy syndrome;not specified	RCV000532469;RCV000193738	MedGen;OMIM;Orphanet	C1857512;218340;ORPHA1777;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139068225
Clinvar_Rec_523	rs33926449	Benign/Likely benign	Combined deficiency of factor V and factor VIII, 1;not specified	RCV000387764;RCV000246141	MedGen;OMIM	C4551981;227300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs33926449
Clinvar_Rec_524	rs33926449	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000368787	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs1043334
Clinvar_Rec_525	rs118203896	Affects	Lactate dehydrogenase B deficiency	RCV000015664	MedGen;OMIM	C1835592;614128	no assertion criteria provided	tagSNP	rs118203896
Clinvar_Rec_526	rs748544878	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000541010	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs748544878
Clinvar_Rec_527	rs786205157	Likely pathogenic	Epileptic encephalopathy, early infantile, 29;not provided	RCV000170341;RCV000236174	MedGen;OMIM	C4225361;616339;MedGen	criteria provided, single submitter	tagSNP	rs786205157
Clinvar_Rec_528	rs3213422	Benign	Miller syndrome;not specified	RCV000321810;RCV000116875	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3213422
Clinvar_Rec_529	rs886046949	Uncertain significance	Thrombocytopenia	RCV000317917	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	tagSNP	rs886046949
Clinvar_Rec_530	rs764255899	Conflicting interpretations of pathogenicity	Congenital fiber-type disproportion;Nemaline myopathy;not provided	RCV000301387;RCV000394360;RCV000875762	MedGen;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA607;75072002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs764255899
Clinvar_Rec_531	rs2229857	Benign	Symmetrical dyschromatosis of extremities;not specified	RCV000380536;RCV000175658	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229857
Clinvar_Rec_532	rs1553264668	Likely pathogenic	Cardiovascular phenotype;not provided	RCV000618096;RCV000786357	MedGen	CN230736;MedGen	criteria provided, single submitter	tagSNP	rs1553264668
Clinvar_Rec_533	rs1553265180	Likely pathogenic	Dilated cardiomyopathy 1A	RCV000623152	MedGen;OMIM;Orphanet	C1449563;115200;ORPHA300751	criteria provided, single submitter	tagSNP	rs1553265180
Clinvar_Rec_534	rs1553265180	Uncertain significance	Familial dilated cardiomyopathy	RCV000627143	MedGen;Orphanet	C0340427;ORPHA217607	criteria provided, single submitter	tagSNP	rs1553265180
Clinvar_Rec_535	rs267607599	Pathogenic	Charcot-Marie-Tooth disease, type 2;not provided	RCV000465598;RCV000057277	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs267607599
Clinvar_Rec_536	rs1553265924	Likely pathogenic	Charcot-Marie-Tooth disease, type 2	RCV000653953	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1553265924
Clinvar_Rec_537	rs886042329	Uncertain significance	Charcot-Marie-Tooth disease, type 2;not provided	RCV000707697;RCV000268863	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886042329
Clinvar_Rec_538	rs4266763	Benign	Familial Candidiasis, Recessive;not specified	RCV000408113;RCV000454561	MedGen	CN239217;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4077515
Clinvar_Rec_539	rs148853824	Benign/Likely benign	Joubert syndrome;not provided;not specified	RCV000379655;RCV000857571;RCV000117272	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79161998
Clinvar_Rec_540	rs886063728	Uncertain significance	Intellectual Disability, Recessive	RCV000284568	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs886063728
Clinvar_Rec_541	rs2247325	Benign	Leukoencephalopathy, cystic, without megalencephaly	RCV000260374	MedGen;OMIM;Orphanet	C2751843;612951;ORPHA85136	criteria provided, single submitter	tagSNP	rs2247325
Clinvar_Rec_542	rs794728010	Pathogenic	Methemoglobinemia type 4	RCV000000254	MedGen;OMIM	C4285231;250790	no assertion criteria provided	tagSNP	rs794728010
Clinvar_Rec_543	rs73609956	Likely benign	Growth retardation, developmental delay, coarse facies, and early death;Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis	RCV000336116;RCV000318257;RCV000274776;RCV000375411	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C2752001;612938;ORPHA210144;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;Human Phenotype Ontology;C0687120;ORPHA655;204958008	criteria provided, single submitter	tagSNP	rs73609956
Clinvar_Rec_544	rs7201	Benign	Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders	RCV000342813	MedGen	CN239151	criteria provided, single submitter	tagSNP	rs7201
Clinvar_Rec_545	rs78076550	Likely benign	Bardet-Biedl syndrome;not specified	RCV000308331;RCV000253850	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs78076550
Clinvar_Rec_546	rs78076550	Likely benign	Bardet-Biedl syndrome;not specified	RCV000402587;RCV000248900	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115078074
Clinvar_Rec_547	rs748650798	Uncertain significance	Familial hypokalemia-hypomagnesemia	RCV000778473	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003	criteria provided, single submitter	tagSNP	rs748650798
Clinvar_Rec_548	rs769691894	Likely pathogenic	ZTTK syndrome	RCV000755182	MedGen;OMIM;Orphanet	C4310696;617140;ORPHA500150	no assertion criteria provided	tagSNP	rs769691894
Clinvar_Rec_549	rs751818136	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000476502	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs751818136
Clinvar_Rec_550	rs751818136	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650746	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs751818136
Clinvar_Rec_551	rs775893052	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650928	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs775893052
Clinvar_Rec_552	rs775893052	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000705374	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs775893052
Clinvar_Rec_553	rs878854879	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000232916	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs878854879
Clinvar_Rec_554	rs1555228601	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome	RCV000702053;RCV000565800	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555228601
Clinvar_Rec_555	rs1010746038	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000552327	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1010746038
Clinvar_Rec_556	rs879254126	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000411050	MedGen;OMIM	C3554460;615083	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254126
Clinvar_Rec_557	rs879254126	Uncertain significance	Colorectal cancer, susceptibility to, 12;not provided	RCV000543850;RCV000578827	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254126
Clinvar_Rec_558	rs879254126	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided	RCV000558380;RCV000563606;RCV000235663	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254126
Clinvar_Rec_559	rs397516364	Likely pathogenic	Primary dilated cardiomyopathy	RCV000036318	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	no assertion criteria provided	tagSNP	rs397516364
Clinvar_Rec_560	rs730880234	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000157543	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	no assertion criteria provided	tagSNP	rs730880234
Clinvar_Rec_561	rs1566936237	Uncertain significance	Cardiomyopathy	RCV000769477	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1566936237
Clinvar_Rec_562	rs1114167357	Likely pathogenic	Tetralogy of Fallot	RCV000491976	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0039685;187500;ORPHA3303;86299006	no assertion criteria provided	tagSNP	rs1114167357
Clinvar_Rec_563	rs1566937759	Uncertain significance	Hypertrophic cardiomyopathy	RCV000706303	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1566937759
Clinvar_Rec_564	rs137853864	Pathogenic	Osteogenesis imperfecta type 9;not provided	RCV000018435;RCV000024544	MedGen;OMIM	C1850169;259440;MedGen	no assertion criteria provided	tagSNP	rs137853864
Clinvar_Rec_565	rs121908594	Pathogenic	Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 3;not provided	RCV000520164;RCV000014278;RCV000158002	MedGen;Orphanet;SNOMED CT;OMIM	C1275081;ORPHA1340;403770008;MedGen;615279;MedGen	reviewed by expert panel	tagSNP	rs121908594
Clinvar_Rec_566	rs796052169	Likely benign	Long QT syndrome	RCV000190166	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	no assertion criteria provided	tagSNP	rs796052169
Clinvar_Rec_567	rs769605183	Uncertain significance	Aortic valve disease 2	RCV000539547	MedGen;OMIM	C3542024;614823	criteria provided, single submitter	tagSNP	rs769605183
Clinvar_Rec_568	rs149949971	Uncertain significance	Aortic valve disease 2	RCV000546579	MedGen;OMIM	C3542024;614823	criteria provided, single submitter	tagSNP	rs149949971
Clinvar_Rec_569	rs1065080	Benign	Cardiovascular phenotype;Loeys-Dietz syndrome;Loeys-Dietz syndrome 3;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000617020;RCV000295973;RCV000989348;RCV000247318;RCV000128169	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	CN230736;MedGen;ORPHA60030;446263001;MedGen;613795;ORPHA284984;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1065080
Clinvar_Rec_570	rs1566999378	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000770682	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1566999378
Clinvar_Rec_571	rs587776880	Pathogenic	Loeys-Dietz syndrome 3	RCV000023242	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	no assertion criteria provided	tagSNP	rs587776880
Clinvar_Rec_572	rs1057517348	Likely pathogenic	Tay-Sachs disease	RCV000409425	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	criteria provided, single submitter	tagSNP	rs1057517348
Clinvar_Rec_573	rs146938346	Uncertain significance	Tay-Sachs disease	RCV000670378	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	criteria provided, single submitter	tagSNP	rs146938346
Clinvar_Rec_574	rs1292006620	Uncertain significance	Adrenoleukodystrophy	RCV000693896	MedGen;OMIM;Orphanet;SNOMED CT	C0162309;300100;ORPHA43;65389002	criteria provided, single submitter	tagSNP	rs1292006620
Clinvar_Rec_575	rs387906701	Pathogenic	N-terminal acetyltransferase deficiency	RCV000022818	MedGen;OMIM;Orphanet	C3275447;300855;ORPHA276432	no assertion criteria provided	tagSNP	rs387906701
Clinvar_Rec_576	rs1557135353	Conflicting interpretations of pathogenicity	Rett syndrome;not provided	RCV000590874;RCV000144758	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1557135353
Clinvar_Rec_577	rs267608510	Pathogenic	Rett syndrome	RCV000133188	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608510
Clinvar_Rec_578	rs727505391	Pathogenic	Rett syndrome	RCV000157062	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs727505391
Clinvar_Rec_579	rs797045694	Pathogenic	Rett syndrome	RCV000193568	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	criteria provided, single submitter	tagSNP	rs797045694
Clinvar_Rec_580	rs786205183	Pathogenic	Periventricular nodular heterotopia 1	RCV000170404	MedGen;OMIM;SNOMED CT	C1848213;300049;448227009	criteria provided, single submitter	tagSNP	rs786205183
Clinvar_Rec_581	rs1557178932	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640736;RCV000640736;RCV000640736;RCV000640736	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1557178932
Clinvar_Rec_582	rs782357419	Benign	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640788;RCV000640788;RCV000640788;RCV000640788	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs782357419
Clinvar_Rec_583	rs1557180226	Pathogenic	Periventricular nodular heterotopia 1	RCV000577884	MedGen;OMIM;SNOMED CT	C1848213;300049;448227009	no assertion criteria provided	tagSNP	rs1557180226
Clinvar_Rec_584	rs374981936	Uncertain significance	Emery-Dreifuss muscular dystrophy 1, X-linked;not specified	RCV000638213;RCV000150648	MedGen;OMIM;Orphanet	C0751337;310300;ORPHA431272;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374981936
Clinvar_Rec_585	rs137852322	Pathogenic	G6PD TOMAH	RCV000011101	-	-	criteria provided, single submitter	tagSNP	rs137852322
Clinvar_Rec_586	rs5030872	Pathogenic	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD MALAGA;G6PD SANTAMARIA;not provided	RCV000991016;RCV000030892;RCV000011109;RCV000507037	MedGen;OMIM;Orphanet	C2720289;300908;ORPHA466026;na;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030872
Clinvar_Rec_587	rs863224010	Likely pathogenic	Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer;not provided	RCV000706449;RCV000445635;RCV000197211	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0342770;606812;ORPHA24;237983002;Human Phenotype Ontology;C1708350;150800;ORPHA523;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224010
Clinvar_Rec_588	rs281865471	Pathogenic	Koolen-de Vries syndrome	RCV000024372	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	no assertion criteria provided	tagSNP	rs281865471
Clinvar_Rec_589	rs886053073	Uncertain significance	Tetraamelia, autosomal recessive	RCV000349916	MedGen;OMIM	C4012268;273395	criteria provided, single submitter	tagSNP	rs886053073
Clinvar_Rec_590	rs199865066	Uncertain significance	Amelogenesis Imperfecta, Dominant	RCV000345045	MedGen	CN239159	criteria provided, single submitter	LD derived	rs375929276
Clinvar_Rec_591	rs1555571849	Pathogenic	Osteogenesis imperfecta type I	RCV000550757	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555571849
Clinvar_Rec_592	rs1555573640	Likely benign	Osteogenesis imperfecta type I	RCV000541759	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555573640
Clinvar_Rec_593	rs72667019	Pathogenic	Ehlers-Danlos syndrome, procollagen proteinase deficient	RCV000018893	MedGen;OMIM;Orphanet;SNOMED CT	C4551623;130060;ORPHA1899;55711009	no assertion criteria provided	tagSNP	rs72667019
Clinvar_Rec_594	rs730881936	Uncertain significance	Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	RCV000466866;RCV000160930;RCV000212930	MedGen;OMIM;Orphanet;SNOMED CT	C3150653;613390;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881936
Clinvar_Rec_595	rs730881937	Uncertain significance	Fanconi anemia, complementation group O;Hereditary breast and ovarian cancer syndrome;not provided	RCV000233682;RCV000709500;RCV000587134	MedGen;OMIM;MedGen;Orphanet	C3150653;613390;MeSH;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881937
Clinvar_Rec_596	rs777191235	Uncertain significance	Perlman syndrome	RCV000638471	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs777191235
Clinvar_Rec_597	rs730882161	Pathogenic	Microphthalmia, isolated 6	RCV000162042	MedGen;OMIM	C3150757;613517	no assertion criteria provided	tagSNP	rs730882161
Clinvar_Rec_598	rs587776824	Uncertain significance	VACTERL association	RCV000016005	MedGen	C1735591	no assertion criteria provided	tagSNP	rs587776824
Clinvar_Rec_599	rs764286061	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000352151	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	tagSNP	rs764286061
Clinvar_Rec_600	rs549429988	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000348725	MedGen	CN239439	criteria provided, single submitter	LD derived	rs555344314
Clinvar_Rec_601	rs549429988	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000305516	MedGen	CN239439	criteria provided, single submitter	LD derived	rs573551830
Clinvar_Rec_602	rs549429988	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000332535;RCV000952829;RCV000155083	MedGen	CN239439;MedGen	criteria provided, conflicting interpretations	LD derived	rs185220846
Clinvar_Rec_603	rs5952419	Benign	Spinal muscular atrophy, X-linked 2;not specified	RCV000344795;RCV000424315	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs5953010
Clinvar_Rec_604	rs5952419	Benign	Spinal muscular atrophy, X-linked 2;not specified	RCV000302595;RCV000430649	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2230147
Clinvar_Rec_605	rs606231197	Pathogenic	Renpenning syndrome 1	RCV000011730	MedGen;OMIM;Orphanet	C0796135;309500;ORPHA3242	no assertion criteria provided	tagSNP	rs606231197
Clinvar_Rec_606	rs1569523565	Likely pathogenic	Neurodegeneration with brain iron accumulation 5;not provided	RCV000760207;RCV000999424	MedGen;OMIM;Orphanet	C3550973;300894;ORPHA329284;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1569523565
Clinvar_Rec_607	rs387906702	Pathogenic/Likely pathogenic	Congenital muscular hypertrophy-cerebral syndrome;Inborn genetic diseases;not provided	RCV000022820;RCV000623393;RCV000441375	MedGen;OMIM;SNOMED CT;MedGen	C1802395;300590;55016009;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906702
Clinvar_Rec_608	rs1057515975	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant	RCV000349652	MedGen	CN239175	criteria provided, single submitter	tagSNP	rs1057515975
Clinvar_Rec_609	rs991638429	Likely benign	Carney complex, type 1	RCV000549659	MedGen;OMIM	C2607929;160980	criteria provided, single submitter	tagSNP	rs991638429
Clinvar_Rec_610	rs3200218	Likely benign	Hyperlipoproteinemia, type I	RCV000287008	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0023817;238600;ORPHA309015;238086005;275598004	criteria provided, single submitter	tagSNP	rs3200218
Clinvar_Rec_611	rs886057931	Uncertain significance	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia;Lymphedema, primary, with myelodysplasia	RCV000822691;RCV000319083;RCV000822691	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C3280030;614172;ORPHA228423;MedGen;614038;ORPHA3226;MedGen;614038;ORPHA3226	criteria provided, multiple submitters, no conflicts	tagSNP	rs886057931
Clinvar_Rec_612	rs34096980	Conflicting interpretations of pathogenicity	Glycogen storage disease, type VI;not provided;not specified	RCV000325829;RCV000761876;RCV000595200	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017925;232700;ORPHA369;237971004;29291001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs34096980
Clinvar_Rec_613	rs538311514	Uncertain significance	Glycogen storage disease, type VI	RCV000294119	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017925;232700;ORPHA369;237971004;29291001	criteria provided, single submitter	tagSNP	rs538311514
Clinvar_Rec_614	rs1555352516	Pathogenic	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC	RCV000663432	MedGen	CN252343	no assertion criteria provided	tagSNP	rs1555352516
Clinvar_Rec_615	rs762770947	Uncertain significance	Amish lethal microcephaly;not provided	RCV000398797;RCV000808854	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762770947
Clinvar_Rec_616	rs536209426	Uncertain significance	Deficiency of galactokinase	RCV000673022	MedGen;OMIM;Orphanet;SNOMED CT	C0268155;230200;ORPHA79237;124302001	criteria provided, single submitter	tagSNP	rs536209426
Clinvar_Rec_617	rs760205477	Uncertain significance	Glycogen storage disease, type II;not provided	RCV000660562;RCV000597148	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760205477
Clinvar_Rec_618	rs144143780	Pathogenic	Mucopolysaccharidosis;Mucopolysaccharidosis, MPS-III-A;not provided	RCV001030814;RCV000666337;RCV000309724	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0026703;ORPHA79213;11380006;MedGen;252900;ORPHA79269;41572006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144143780
Clinvar_Rec_619	rs780441119	Uncertain significance	Epileptic encephalopathy	RCV000686070	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs780441119
Clinvar_Rec_620	rs36033115	Conflicting interpretations of pathogenicity	Familial porphyria cutanea tarda;Porphyria cutanea tarda;not provided	RCV000986297;RCV000333670;RCV000879050	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0268323;176100;ORPHA443062;59229005;MedGen;ORPHA101330;61860000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs36033115
Clinvar_Rec_621	rs144309934	Uncertain significance	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	RCV000130888;RCV000701248	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798	criteria provided, multiple submitters, no conflicts	tagSNP	rs144309934
Clinvar_Rec_622	rs28939092	Pathogenic	Desmosterolosis	RCV000004615	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	no assertion criteria provided	tagSNP	rs28939092
Clinvar_Rec_623	rs886046427	Uncertain significance	Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia	RCV000387081;RCV000281454	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT	C0745103;143890;397915002;MedGen;ORPHA426;60193003	criteria provided, single submitter	tagSNP	rs886046427
Clinvar_Rec_624	rs779469742	Uncertain significance	PCSK9-Related Disorders	RCV000778247	-	-	criteria provided, single submitter	tagSNP	rs779469742
Clinvar_Rec_625	rs232835	Likely benign	Corneal Dystrophy, Dominant/Recessive	RCV000358684	MedGen	CN239339	criteria provided, single submitter	tagSNP	rs232835
Clinvar_Rec_626	rs886058299	Uncertain significance	Loeys-Dietz syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000383490;RCV000331422;RCV000274037	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886058299
Clinvar_Rec_627	rs6799559	Likely benign	Brugada syndrome	RCV000404284	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs6799559
Clinvar_Rec_628	rs63751892	Pathogenic	Lynch syndrome	RCV000075414	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751892
Clinvar_Rec_629	rs369737664	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000126779;RCV000585926;RCV000212511	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369737664
Clinvar_Rec_630	rs1403203490	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571321	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1403203490
Clinvar_Rec_631	rs63750648	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	RCV000162610;RCV000791372;RCV000075763;RCV000680175;RCV000483320	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435;MedGen	reviewed by expert panel	tagSNP	rs63750648
Clinvar_Rec_632	rs587779045	Pathogenic	Lynch syndrome;Lynch syndrome II	RCV000075885;RCV000662604	MedGen;Orphanet;OMIM	C1333990;ORPHA144;MedGen;609310	reviewed by expert panel	tagSNP	rs587779045
Clinvar_Rec_633	rs377111182	Likely benign	Lynch syndrome II	RCV000662422	MedGen;OMIM	C1333991;609310	criteria provided, single submitter	tagSNP	rs377111182
Clinvar_Rec_634	rs876659274	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000219452;RCV000630199	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659274
Clinvar_Rec_635	rs63751467	Conflicting interpretations of pathogenicity	Colorectal cancer, non-polyposis;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome;not provided;not specified	RCV000148621;RCV000128912;RCV000524219;RCV000075074;RCV000764485;RCV000987162;RCV000764485;RCV000764485;RCV000656860;RCV000220791	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN221576;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;609310;MedGen;609310;MedGen;158320;ORPHA587;403824007;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63751467
Clinvar_Rec_636	rs63750071	Pathogenic	Lynch syndrome	RCV000075178	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750071
Clinvar_Rec_637	rs768770694	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000217957;RCV000630304;RCV000612222	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768770694
Clinvar_Rec_638	rs387906336	Pathogenic	Triglyceride storage disease with ichthyosis	RCV000005683	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	no assertion criteria provided	tagSNP	rs387906336
Clinvar_Rec_639	rs1468358104	Likely pathogenic	Inborn genetic diseases	RCV000623287	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1468358104
Clinvar_Rec_640	rs754114025	Likely benign	History of neurodevelopmental disorder	RCV000716827	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs754114025
Clinvar_Rec_641	rs786204880	Benign	Hereditary cancer-predisposing syndrome	RCV000169821	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786204880
Clinvar_Rec_642	rs1226857287	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000709129	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1226857287
Clinvar_Rec_643	rs886047395	Uncertain significance	PTEN hamartoma tumor syndrome;not specified	RCV000381673;RCV000582981	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498;MedGen	criteria provided, single submitter	tagSNP	rs886047395
Clinvar_Rec_644	rs1802491	Likely benign	Retinitis Pigmentosa, Dominant	RCV000325785	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs1802491
Clinvar_Rec_645	rs886052620	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000266174	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886052620
Clinvar_Rec_646	rs77453839	Benign/Likely benign	Cystinosis;Nephropathic cystinosis;not provided;not specified	RCV000269959;RCV000313385;RCV000586769;RCV000243105	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77453839
Clinvar_Rec_647	rs1057516723	Likely pathogenic	Nephropathic cystinosis	RCV000410327	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs1057516723
Clinvar_Rec_648	rs1555527450	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	RCV000667776	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555527450
Clinvar_Rec_649	rs1555527820	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000667871	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555527820
Clinvar_Rec_650	rs387906251	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	RCV000001693	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906251
Clinvar_Rec_651	rs768975918	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000666689	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs768975918
Clinvar_Rec_652	rs113994167	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency;not provided	RCV000020081;RCV000077925	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113994167
Clinvar_Rec_653	rs1555528804	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	RCV000669283	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555528804
Clinvar_Rec_654	rs111851815	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	RCV000411534	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs111851815
Clinvar_Rec_655	rs1800372	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided;not specified	RCV000162403;RCV000206135;RCV000203086;RCV000755410;RCV000036533	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800372
Clinvar_Rec_656	rs1555526166	Uncertain significance	Li-Fraumeni syndrome	RCV000633345	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1555526166
Clinvar_Rec_657	rs772683278	Uncertain significance	Li-Fraumeni syndrome	RCV000534841	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs772683278
Clinvar_Rec_658	rs1057519975	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Carcinoma of esophagus;Hepatocellular carcinoma;Lung adenocarcinoma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder	RCV000422903;RCV000440105;RCV000426036;RCV000430504;RCV000432610;RCV000425388;RCV000418091;RCV000423943;RCV000434656;RCV000444995;RCV000433604;RCV000441192;RCV000444209	MedGen;MeSH;MedGen;Orphanet;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen	C0007112;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;C0281361;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519975
Clinvar_Rec_659	rs1057519975	Uncertain significance	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Carcinoma of esophagus;Hepatocellular carcinoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder	RCV000444857;RCV000444883;RCV000430830;RCV000426947;RCV000438245;RCV000814994;RCV000443653;RCV000420576;RCV000432917;RCV000424613;RCV000431837;RCV000437180;RCV000426276;RCV000422226	MedGen;MeSH;MedGen;Orphanet;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen	C0007112;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;C0281361;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680	criteria provided, single submitter	tagSNP	rs1057519975
Clinvar_Rec_660	rs1057519975	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Adrenocortical carcinoma;Carcinoma of esophagus;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder	RCV000420954;RCV000423071;RCV000432330;RCV000428411;RCV000445231;RCV000570655;RCV000991142;RCV000439732;RCV000444598;RCV000437581;RCV000418158;RCV000785515;RCV000429525;RCV000438642;RCV000422074;RCV000433361	MedGen;MeSH;MedGen;Orphanet;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;MedGen	C0007112;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680	reviewed by expert panel	tagSNP	rs1057519975
Clinvar_Rec_661	rs1567556432	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV001013385;RCV000780779	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567556432
Clinvar_Rec_662	rs574255227	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000563399;RCV000198234	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs574255227
Clinvar_Rec_663	rs573130482	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000574896;RCV000470573;RCV000586224	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs573130482
Clinvar_Rec_664	rs573130482	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000161041;RCV000589460;RCV000213043	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs573130482
Clinvar_Rec_665	rs886053517	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000264908	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs886053517
Clinvar_Rec_666	rs78236778	Benign	Cone-rod dystrophy 6;Leber congenital amaurosis 1	RCV000536900;RCV000536900	MedGen;OMIM;OMIM	C1866293;601777;MedGen;204000	criteria provided, single submitter	LD derived	rs56034424
Clinvar_Rec_667	rs78236778	Benign	Cone-rod dystrophy 6;Leber congenital amaurosis 1;not specified	RCV000549770;RCV000549770;RCV000175391	MedGen;OMIM;OMIM	C1866293;601777;MedGen;204000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79887212
Clinvar_Rec_668	rs780992571	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000352831	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs780992571
Clinvar_Rec_669	rs1564972905	Uncertain significance	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	RCV000785177	MedGen;OMIM;Orphanet	C2676767;612300;ORPHA169464	criteria provided, single submitter	tagSNP	rs1564972905
Clinvar_Rec_670	rs773751064	Uncertain significance	Purine-nucleoside phosphorylase deficiency	RCV000703376	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005	criteria provided, single submitter	tagSNP	rs773751064
Clinvar_Rec_671	rs80049945	Uncertain significance	Pyridoxine-dependent epilepsy	RCV000559882	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006	criteria provided, single submitter	tagSNP	rs80049945
Clinvar_Rec_672	rs886059849	Uncertain significance	Pyridoxine-dependent epilepsy	RCV000274095	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006	criteria provided, multiple submitters, no conflicts	tagSNP	rs886059849
Clinvar_Rec_673	rs201566142	Benign/Likely benign	Seizures;not provided;not specified	RCV000716346;RCV000468162;RCV000173236	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201566142
Clinvar_Rec_674	rs7732639	Benign	Congenital contractural arachnodactyly	RCV000406164	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003	criteria provided, single submitter	tagSNP	rs7732639
Clinvar_Rec_675	rs1561538396	Uncertain significance	Autosomal recessive axonal neuropathy with neuromyotonia	RCV000698210	MedGen;OMIM;Orphanet;SNOMED CT	CN074193;137200;ORPHA324442;711406009	criteria provided, single submitter	tagSNP	rs1561538396
Clinvar_Rec_676	rs1060501972	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000460051	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501972
Clinvar_Rec_677	rs886063220	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000403385;RCV000298980;RCV000356175;RCV000589811	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886063220
Clinvar_Rec_678	rs1560035695	Uncertain significance	Propionic acidemia	RCV000706892	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, single submitter	tagSNP	rs1560035695
Clinvar_Rec_679	rs11772411	Benign/Likely benign	Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified	RCV000302739;RCV000987815;RCV000116372	MedGen;OMIM;Orphanet	CN239433;MedGen;613647;ORPHA306511;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11772411
Clinvar_Rec_680	rs587778615	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000223434;RCV000539351;RCV000759196;RCV000121836	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778615
Clinvar_Rec_681	rs772659239	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000574931;RCV000472222	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, conflicting interpretations	tagSNP	rs772659239
Clinvar_Rec_682	rs1803550	Benign	Glutaric aciduria, type 2	RCV000313076	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006	criteria provided, single submitter	tagSNP	rs1803550
Clinvar_Rec_683	rs1567185603	Pathogenic	Progressive sclerosing poliodystrophy	RCV000758277	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs1567185603
Clinvar_Rec_684	rs886042503	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E;Qualitative or quantitative defects of beta-sarcoglycan;not provided	RCV000812020;RCV000778734;RCV000498910	MedGen;OMIM;Orphanet;Orphanet	C1858593;604286;ORPHA119;MedGen;ORPHA207063;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886042503
Clinvar_Rec_685	rs398123262	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E;not provided	RCV001049531;RCV000173087	MedGen;OMIM;Orphanet	C1858593;604286;ORPHA119;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123262
Clinvar_Rec_686	rs1554809363	Uncertain significance	Hereditary hemorrhagic telangiectasia	RCV000633145	MedGen;Orphanet;SNOMED CT	C0039445;ORPHA774;21877004	criteria provided, single submitter	tagSNP	rs1554809363
Clinvar_Rec_687	rs757343854	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000633142	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs757343854
Clinvar_Rec_688	rs1564462834	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000707597	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs1564462834
Clinvar_Rec_689	rs113481265	Benign	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1u;not specified	RCV000265670;RCV000611003;RCV000116900	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;615042;ORPHA329178;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6781
Clinvar_Rec_690	rs3818553	Benign/Likely benign	Dystonia 1;not specified	RCV000298379;RCV000242539	MedGen;OMIM	C1851945;128100;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2296793
Clinvar_Rec_691	rs1344661944	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VIII	RCV000694155	MedGen;OMIM;Orphanet	C4225308;616488;ORPHA478664	criteria provided, single submitter	tagSNP	rs1344661944
Clinvar_Rec_692	rs121913449	Likely pathogenic	Chronic myelogenous leukemia, BCR-ABL1 positive	RCV000443466	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D015464;C0023473;608232;ORPHA521	no assertion criteria provided	tagSNP	rs121913449
Clinvar_Rec_693	rs372109796	Uncertain significance	Ehlers-Danlos syndrome, classic type;not provided;not specified	RCV000559236;RCV000766817;RCV000196527	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372109796
Clinvar_Rec_694	rs1554805651	Likely benign	Ehlers-Danlos syndrome, classic type	RCV000533721	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1554805651
Clinvar_Rec_695	rs138068984	Uncertain significance	Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;not specified	RCV000621301;RCV000634637;RCV000199872	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	CN230736;MedGen;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138068984
Clinvar_Rec_696	rs886056587	Uncertain significance	Bohring-Opitz syndrome	RCV000264115	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs886056587
Clinvar_Rec_697	rs886056641	Uncertain significance	Gluthathione synthetase deficiency	RCV000350582	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0398746;266130;ORPHA32;234589002	criteria provided, single submitter	tagSNP	rs886056641
Clinvar_Rec_698	rs886056642	Conflicting interpretations of pathogenicity	Gluthathione synthetase deficiency;not specified	RCV000402933;RCV000420233	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0398746;266130;ORPHA32;234589002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886056642
Clinvar_Rec_699	rs886056649	Uncertain significance	Aicardi Goutieres syndrome;Chilblain Lupus	RCV000276782;RCV000371129	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006;MedGen	criteria provided, single submitter	tagSNP	rs886056649
Clinvar_Rec_700	rs398124572	Conflicting interpretations of pathogenicity	Maple syrup urine disease;not provided	RCV000173587;RCV000790710	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398124572
Clinvar_Rec_701	rs1555606936	Pathogenic	Naxos disease	RCV000531029	MedGen;OMIM;Orphanet	C1832600;601214;ORPHA34217	criteria provided, single submitter	tagSNP	rs1555606936
Clinvar_Rec_702	rs4796702	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Naxos disease	RCV000303965;RCV000265251	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;601214;ORPHA34217	criteria provided, single submitter	tagSNP	rs4796702
Clinvar_Rec_703	rs1555621405	Uncertain significance	Mucopolysaccharidosis, MPS-III-B	RCV000673248	MedGen;OMIM;Orphanet;SNOMED CT	C0086648;252920;ORPHA79270;59990008	criteria provided, single submitter	tagSNP	rs1555621405
Clinvar_Rec_704	rs521358	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000461613;RCV000131946;RCV000759542	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs564757581
Clinvar_Rec_705	rs570981828	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111691	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs80357220
Clinvar_Rec_706	rs570981828	Uncertain significance	Hereditary cancer-predisposing syndrome;Neoplasm of the breast	RCV000580306;RCV000240791	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	criteria provided, multiple submitters, no conflicts	LD derived	rs80357220
Clinvar_Rec_707	rs568330101	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112619	MedGen;OMIM	C2676676;604370	no assertion criteria provided	LD derived	rs273901763
Clinvar_Rec_708	rs568330101	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000411118;RCV000162630;RCV000586109;RCV000508688	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs140588714
Clinvar_Rec_709	rs568330101	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166161	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	LD derived	rs140588714
Clinvar_Rec_710	rs149756661	Likely benign	Severe congenital neutropenia	RCV000402452	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	tagSNP	rs149756661
Clinvar_Rec_711	rs63749877	Pathogenic	Ceroid lipofuscinosis, neuronal, 11;Primary progressive aphasia;not provided	RCV000029169;RCV000017394;RCV000084585	MedGen;OMIM;Orphanet;Orphanet	C3539123;614706;ORPHA314629;MedGen;ORPHA95432;MedGen	no assertion criteria provided	tagSNP	rs63749877
Clinvar_Rec_712	rs566348485	Uncertain significance	Alexander Disease;Alexander Disease;not provided	RCV000192110;RCV000192131;RCV000056895	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen;203450;ORPHA58;81854007;MedGen	criteria provided, single submitter	LD derived	rs56679084
Clinvar_Rec_713	rs145457535	Conflicting interpretations of pathogenicity	Ciliary dyskinesia, primary, 17;Kartagener syndrome;Primary ciliary dyskinesia;not provided	RCV000024376;RCV000190916;RCV000226016;RCV000723879	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C3542550;614679;MedGen;244400;ORPHA98861;42402006;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145457535
Clinvar_Rec_714	rs876658825	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000220736	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658825
Clinvar_Rec_715	rs1060502001	Pathogenic	Lynch syndrome	RCV000467909	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1060502001
Clinvar_Rec_716	rs587779165	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	RCV000160632;RCV000684796;RCV000076643;RCV000497286	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs587779165
Clinvar_Rec_717	rs1114167878	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491207	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167878
Clinvar_Rec_718	rs878853809	Pathogenic	Lynch syndrome	RCV000234418	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs878853809
Clinvar_Rec_719	rs200944853	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000490967;RCV000549468;RCV000759128	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200944853
Clinvar_Rec_720	rs752794296	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000580836;RCV000630401;RCV000434095	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752794296
Clinvar_Rec_721	rs864622281	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000565482;RCV000410492;RCV000588097;RCV000855621	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622281
Clinvar_Rec_722	rs587779934	Uncertain significance	Lynch syndrome	RCV000472265	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs587779934
Clinvar_Rec_723	rs587779934	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided;not specified	RCV000115414;RCV000524173;RCV000122964;RCV000656887;RCV000212629	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779934
Clinvar_Rec_724	rs536686679	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000163894;RCV000470175	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs536686679
Clinvar_Rec_725	rs758635514	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000570111;RCV000630360	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758635514
Clinvar_Rec_726	rs1558658986	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772462	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558658986
Clinvar_Rec_727	rs1322117538	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000566216;RCV000550811	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1322117538
Clinvar_Rec_728	rs1558661808	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777524	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558661808
Clinvar_Rec_729	rs786202725	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5	RCV000165680;RCV000206412;RCV000662615	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202725
Clinvar_Rec_730	rs372996269	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162798;RCV000875436;RCV000418824	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372996269
Clinvar_Rec_731	rs786202166	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000164854;RCV000939650	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202166
Clinvar_Rec_732	rs538917496	Uncertain significance	Amyotrophic lateral sclerosis 21	RCV000690146	MedGen;OMIM	C3807521;606070	criteria provided, single submitter	tagSNP	rs538917496
Clinvar_Rec_733	rs1433370088	Uncertain significance	Mental retardation, autosomal dominant 31	RCV000706091	MedGen;OMIM;Orphanet	C4015357;616158;ORPHA438213	criteria provided, single submitter	tagSNP	rs1433370088
Clinvar_Rec_734	rs1282359377	Likely benign	History of neurodevelopmental disorder	RCV000719209	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1282359377
Clinvar_Rec_735	rs1561793336	Likely pathogenic	Mental retardation, autosomal dominant 31	RCV000678909	MedGen;OMIM;Orphanet	C4015357;616158;ORPHA438213	criteria provided, single submitter	tagSNP	rs1561793336
Clinvar_Rec_736	rs387906639	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Usher syndrome, type 3B;not specified	RCV000623702;RCV000022619;RCV000608744	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;614504;MedGen	criteria provided, conflicting interpretations	tagSNP	rs387906639
Clinvar_Rec_737	rs886062639	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000403964	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs886062639
Clinvar_Rec_738	rs137852842	Pathogenic	Cerebral cavernous malformations 2;not provided	RCV000002803;RCV000517211	MedGen;OMIM	C1864041;603284;MedGen	criteria provided, single submitter	tagSNP	rs137852842
Clinvar_Rec_739	rs757910571	Likely benign	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	RCV000639642	MedGen;OMIM;Orphanet	C1833275;600802;ORPHA35078	criteria provided, single submitter	tagSNP	rs757910571
Clinvar_Rec_740	rs138645044	Conflicting interpretations of pathogenicity	Severe Combined Immune Deficiency;not provided	RCV000399141;RCV000589741	MedGen	CN239264;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138645044
Clinvar_Rec_741	rs1168878327	Uncertain significance	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	RCV000644581	MedGen;OMIM	C4012727;603387	criteria provided, single submitter	tagSNP	rs1168878327
Clinvar_Rec_742	rs751758378	Uncertain significance	Congenital disorder of glycosylation	RCV000292747	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs751758378
Clinvar_Rec_743	rs767695697	Uncertain significance	Congenital disorder of glycosylation	RCV000359764	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs767695697
Clinvar_Rec_744	rs575007678	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573469;RCV000543416	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs575007678
Clinvar_Rec_745	rs1554000360	Pathogenic	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000538564;RCV000538564	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1554000360
Clinvar_Rec_746	rs1042446	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000565278;RCV000827097	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1042446
Clinvar_Rec_747	rs1042446	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000568815;RCV000239372;RCV000427231	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1042446
Clinvar_Rec_748	rs121918285	Pathogenic	Vitelliform macular dystrophy type 2	RCV000002849	MedGen;OMIM;Orphanet;SNOMED CT	C0339510;153700;ORPHA1243;90036004	no assertion criteria provided	tagSNP	rs121918285
Clinvar_Rec_749	rs376249009	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000337478	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs376249009
Clinvar_Rec_750	rs748620956	Conflicting interpretations of pathogenicity	Pyruvate carboxylase deficiency;not provided	RCV000675082;RCV000489540	MedGen;OMIM;Orphanet;SNOMED CT	C0034341;266150;ORPHA3008;87694001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs748620956
Clinvar_Rec_751	rs148140510	Conflicting interpretations of pathogenicity	Congenital Stationary Night Blindness, Recessive;not provided	RCV000370457;RCV001034418	MedGen	CN239273;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148140510
Clinvar_Rec_752	rs937751489	Likely benign	Herpes simplex encephalitis 1	RCV000647031	MedGen;OMIM	C2750180;610551	criteria provided, single submitter	tagSNP	rs937751489
Clinvar_Rec_753	rs1553757628	Uncertain significance	Gillespie syndrome;Inborn genetic diseases;not provided	RCV000764511;RCV000622722;RCV000992210	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0431401;206700;ORPHA1065;253176002;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553757628
Clinvar_Rec_754	rs186084634	Uncertain significance	Von Hippel-Lindau syndrome	RCV000291774	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs186084634
Clinvar_Rec_755	rs188880599	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574494;RCV000199646	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201663073
Clinvar_Rec_756	rs886057747	Uncertain significance	Von Hippel-Lindau syndrome	RCV000398761	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs886057747
Clinvar_Rec_757	rs780912024	Benign/Likely benign	Rasopathy;not specified	RCV000655008;RCV000614115	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780912024
Clinvar_Rec_758	rs35100587	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy;Cardiovascular phenotype;not specified	RCV000281924;RCV000477225;RCV000771074;RCV000241757;RCV000039393	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;604400;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35100587
Clinvar_Rec_759	rs71464113	Likely benign	Deficiency of transaldolase	RCV000363645	MedGen;OMIM;Orphanet;SNOMED CT	C1291329;606003;ORPHA101028;124252008	criteria provided, single submitter	tagSNP	rs71464113
Clinvar_Rec_760	rs71464113	Uncertain significance	Deficiency of transaldolase	RCV000313734	MedGen;OMIM;Orphanet;SNOMED CT	C1291329;606003;ORPHA101028;124252008	criteria provided, single submitter	tagSNP	rs71464113
Clinvar_Rec_761	rs550469869	Uncertain significance	Neutral lipid storage myopathy	RCV000294803	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908	criteria provided, single submitter	tagSNP	rs550469869
Clinvar_Rec_762	rs140852332	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000289130	MedGen	CN239251	criteria provided, single submitter	tagSNP	rs140852332
Clinvar_Rec_763	rs757712173	Uncertain significance	Neuronal ceroid lipofuscinosis;not provided	RCV000231366;RCV000727458	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757712173
Clinvar_Rec_764	rs11564716	Conflicting interpretations of pathogenicity	Segawa syndrome, autosomal recessive;not provided;not specified	RCV000339212;RCV000232698;RCV000362807	MedGen;OMIM	C1854299;605407;MedGen	criteria provided, conflicting interpretations	tagSNP	rs11564716
Clinvar_Rec_765	rs199473452	not provided	Congenital long QT syndrome	RCV000057678	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473452
Clinvar_Rec_766	rs199472753	not provided	Congenital long QT syndrome	RCV000057826	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472753
Clinvar_Rec_767	rs199472753	Conflicting interpretations of pathogenicity	Congenital long QT syndrome;Long QT syndrome;not provided;not specified	RCV000057827;RCV000466144;RCV000182143;RCV000223841	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	C1141890;ORPHA768;442917000;MeSH;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199472753
Clinvar_Rec_768	rs199472773	not provided	Congenital long QT syndrome	RCV000057566	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472773
Clinvar_Rec_769	rs1345683292	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000704183	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1345683292
Clinvar_Rec_770	rs1332953428	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000705163	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1332953428
Clinvar_Rec_771	rs113374868	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000628561	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs113374868
Clinvar_Rec_772	rs864622140	Uncertain significance	Pancreatic adenocarcinoma	RCV000206720	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs864622140
Clinvar_Rec_773	rs121913387	Pathogenic	Hereditary cutaneous melanoma;Neoplasm	RCV000638957;RCV000430418	MedGen;MeSH;MedGen;SNOMED CT	C1512419;Human Phenotype Ontology;D009369;C0027651;108369006	criteria provided, single submitter	tagSNP	rs121913387
Clinvar_Rec_774	rs121913387	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000773116;RCV000638979;RCV000985667	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913387
Clinvar_Rec_775	rs876658199	Likely benign	Hereditary cancer-predisposing syndrome	RCV000216332	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658199
Clinvar_Rec_776	rs372266620	Uncertain significance	Cutaneous malignant melanoma 2;Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000709068;RCV000562625;RCV000696919	MedGen;OMIM;Orphanet;SNOMED CT	C1835044;155601;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372266620
Clinvar_Rec_777	rs372266620	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000166989;RCV000458585;RCV000481263	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372266620
Clinvar_Rec_778	rs372266620	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Melanoma-pancreatic cancer syndrome;not provided	RCV000215562;RCV000988157;RCV000587917	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;606719;ORPHA404560;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372266620
Clinvar_Rec_779	rs771138120	Uncertain significance	Hereditary cutaneous melanoma	RCV000530349	MedGen	C1512419	criteria provided, single submitter	tagSNP	rs771138120
Clinvar_Rec_780	rs771138120	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000582370;RCV000793242	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs771138120
Clinvar_Rec_781	rs771138120	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000574535;RCV000228107	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771138120
Clinvar_Rec_782	rs1482685317	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000583511;RCV000538507;RCV000840850	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1482685317
Clinvar_Rec_783	rs200382984	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575676	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs200382984
Clinvar_Rec_784	rs79691946	Benign	Anterior segment dysgenesis 3;not provided;not specified	RCV000023070;RCV000162086;RCV000153259	MedGen;OMIM	C1866560;601631;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79691946
Clinvar_Rec_785	rs148568494	Uncertain significance	Combined oxidative phosphorylation deficiency 14	RCV000541416	MedGen;OMIM;Orphanet	C3554168;614946;ORPHA319519	criteria provided, single submitter	tagSNP	rs148568494
Clinvar_Rec_786	rs145613857	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided;not specified	RCV000370296;RCV000551565;RCV000238714	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145613857
Clinvar_Rec_787	rs387906419	Pathogenic	Exercise intolerance, muscle pain, and lactic acidemia;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010182;RCV000850901	MedGen;OMIM;Orphanet;SNOMED CT	C4016627;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs387906419
Clinvar_Rec_788	rs879025367	Uncertain significance	Calcification of extrapyramidal basal ganglia;Dementia;Developmental delay;Encephalopathy;Epilepsy;Muscular hypotonia	RCV000408919;RCV000408919;RCV000408919;RCV000408919;RCV000408919;RCV000408919	MedGen;MedGen;MedGen;MedGen;Orphanet;MedGen	CN239811;Human Phenotype Ontology;C0497327;MedGen;C1963101;MeSH;C0014544;ORPHA166463;Human Phenotype Ontology;C0026827	no assertion criteria provided	tagSNP	rs879025367
Clinvar_Rec_789	rs121434473	Pathogenic	Pigmentary retinopathy and sensorineural deafness	RCV000010233	MedGen	C4016611	no assertion criteria provided	tagSNP	rs121434473
Clinvar_Rec_790	rs1131692062	Pathogenic	Mitochondrial diseases	RCV000495226	MedGen;Orphanet	C0751651;ORPHA68380	no assertion criteria provided	tagSNP	rs1131692062
Clinvar_Rec_791	rs121434462	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Mitochondrial encephalomyopathy	RCV000851084;RCV000010203	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen;447292006	criteria provided, single submitter	tagSNP	rs121434462
Clinvar_Rec_792	rs1556424431	Uncertain significance	Acute megakaryoblastic leukemia;Mediastinal germ cell tumor	RCV000202587;RCV000202587	MeSH;MedGen;Orphanet	D007947;C0023462;ORPHA518;MedGen	no assertion criteria provided	tagSNP	rs1556424431
Clinvar_Rec_793	rs1057516071	Uncertain significance	Mitochondrial cytopathy	RCV000408944	MedGen	C2931928	no assertion criteria provided	tagSNP	rs1057516071
Clinvar_Rec_794	rs757875189	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000274987	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs757875189
Clinvar_Rec_795	rs886052658	Uncertain significance	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000288343;RCV000404206	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs886052658
Clinvar_Rec_796	rs775700421	Uncertain significance	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000398097;RCV000343208	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs775700421
Clinvar_Rec_797	rs748386061	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not specified	RCV000718266;RCV000193909	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs748386061
Clinvar_Rec_798	rs552313071	Likely benign	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000649595	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs552313071
Clinvar_Rec_799	rs545533285	Uncertain significance	Familial hypertrophic cardiomyopathy 1	RCV000584772	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	LD derived	rs572035776
Clinvar_Rec_800	rs886051044	Uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	RCV000341278	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs886051044
Clinvar_Rec_801	rs775092898	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000263141	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs775092898
Clinvar_Rec_802	rs11630878	Benign	Isovaleryl-CoA dehydrogenase deficiency	RCV000352977	MedGen;OMIM;Orphanet;SNOMED CT	C0268575;243500;ORPHA33;87827003	criteria provided, single submitter	tagSNP	rs11630878
Clinvar_Rec_803	rs199862884	Uncertain significance	Paget disease of bone	RCV000370545	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs199862884
Clinvar_Rec_804	rs745664191	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV000633953;RCV001014000;RCV000633953;RCV000633953	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs745664191
Clinvar_Rec_805	rs886046313	Uncertain significance	Deficiency of hydroxymethylglutaryl-CoA lyase	RCV000323505	MedGen;OMIM;Orphanet;SNOMED CT	C0268601;246450;ORPHA20;124611007	criteria provided, single submitter	tagSNP	rs886046313
Clinvar_Rec_806	rs776476617	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000339704	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs776476617
Clinvar_Rec_807	rs575299401	Likely benign	GNE myopathy;Inclusion Body Myopathy, Recessive;Sialuria	RCV000340278;RCV000396500;RCV000280549	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1853926;605820;ORPHA602;MedGen;269921;ORPHA3166;238051008	criteria provided, single submitter	tagSNP	rs575299401
Clinvar_Rec_808	rs369796183	Conflicting interpretations of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000648598;RCV000648598;RCV000648598;RCV000648598;RCV000597150	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369796183
Clinvar_Rec_809	rs555852673	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000687781;RCV000687781;RCV000687781;RCV000687781	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	LD derived	rs377275586
Clinvar_Rec_810	rs576667743	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000260744	MedGen	CN239251	criteria provided, single submitter	LD derived	rs572212180
Clinvar_Rec_811	rs886051877	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000284984	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886051877
Clinvar_Rec_812	rs191270495	Benign	Myasthenic syndrome, congenital, 8;not provided;not specified	RCV000540327;RCV000710490;RCV000241878	MedGen;OMIM	C3808739;615120;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs191270495
Clinvar_Rec_813	rs191270495	Benign/Likely benign	Myasthenic syndrome, congenital, 8;not specified	RCV000556816;RCV000246474	MedGen;OMIM	C3808739;615120;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112039851
Clinvar_Rec_814	rs1553177633	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000546585	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs1553177633
Clinvar_Rec_815	rs1276554627	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000706402	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs1276554627
Clinvar_Rec_816	rs1060499677	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000449559	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs1060499677
Clinvar_Rec_817	rs397514720	Pathogenic	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	RCV000054395	MedGen;OMIM	C4017377;271640	no assertion criteria provided	tagSNP	rs397514720
Clinvar_Rec_818	rs797044839	Pathogenic	Robinow syndrome, autosomal dominant 2	RCV000193267	MedGen;OMIM	C4225363;616331	no assertion criteria provided	tagSNP	rs797044839
Clinvar_Rec_819	rs730880212	Likely benign	Arterial dissection;Cardiovascular phenotype;not provided	RCV000157499;RCV000620616;RCV000538872	Human Phenotype Ontology;MedGen	HP;C0002949;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730880212
Clinvar_Rec_820	rs764786977	Uncertain significance	Cardiovascular phenotype;Shprintzen-Goldberg syndrome;not provided	RCV000618408;RCV000548962;RCV000199881	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;182212;ORPHA2462;83092002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764786977
Clinvar_Rec_821	rs571478573	Uncertain significance	Joubert syndrome 25	RCV000652587	MedGen;OMIM	C4084842;616781	criteria provided, single submitter	LD derived	rs142899837
Clinvar_Rec_822	rs759031330	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	RCV000416797	MedGen;OMIM;Orphanet	C1856058;236250;ORPHA395	criteria provided, single submitter	tagSNP	rs759031330
Clinvar_Rec_823	rs779680763	Likely benign	Familial hypertrophic cardiomyopathy 17	RCV000607461	MedGen;OMIM	C3151264;613873	no assertion criteria provided	tagSNP	rs779680763
Clinvar_Rec_824	rs587782918	Uncertain significance	Angelman syndrome	RCV000144343	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587782918
Clinvar_Rec_825	rs532306797	Uncertain significance	Thiopurine methyltransferase deficiency	RCV000299882	MedGen;OMIM;SNOMED CT	C0342801;610460;238012003	criteria provided, single submitter	tagSNP	rs532306797
Clinvar_Rec_826	rs869312151	Likely pathogenic, drug response	Deoxygalactonojirimycin response;Fabry disease	RCV000209507;RCV000209122	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN233149;Human Phenotype Ontology;C0002986;301500;ORPHA324;16652001	no assertion criteria provided	tagSNP	rs869312151
Clinvar_Rec_827	rs1555741826	Pathogenic	Abnormality of vision;Autistic disorder of childhood onset;Delayed speech and language development;Iris coloboma;Motor delay	RCV000627684;RCV000627684;RCV000627684;RCV000627684;RCV000627684	Human Phenotype Ontology;MedGen;MedGen;OMIM;SNOMED CT;MedGen;MedGen;Orphanet;MedGen	HP;C4025846;Human Phenotype Ontology;C0004352;209850;43614003;Human Phenotype Ontology;C0454644;Human Phenotype Ontology;C0240063;ORPHA98944;Human Phenotype Ontology;C1854301	criteria provided, single submitter	tagSNP	rs1555741826
Clinvar_Rec_828	rs1555791090	Uncertain significance	Colorectal cancer 10	RCV000645819	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555791090
Clinvar_Rec_829	rs528938631	Likely benign	Colorectal cancer 10;not provided;not specified	RCV000409979;RCV000679507;RCV000429756	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3218758
Clinvar_Rec_830	rs11879943	Benign/Likely benign	Pontoneocerebellar hypoplasia;not specified	RCV000324822;RCV000147765	MedGen;SNOMED CT	C1261175;373666002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11879943
Clinvar_Rec_831	rs117673613	Likely benign	Retinitis Pigmentosa, Dominant	RCV000293135	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs117673613
Clinvar_Rec_832	rs199942594	Uncertain significance	Spastic paraplegia	RCV000553887	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs199942594
Clinvar_Rec_833	rs774809466	Pathogenic	Hereditary spastic paraplegia 15;Spastic paraplegia	RCV000671739;RCV000547814	MedGen;OMIM;Orphanet;MedGen	C1849128;270700;ORPHA100996;Human Phenotype Ontology;C0037772	criteria provided, multiple submitters, no conflicts	tagSNP	rs774809466
Clinvar_Rec_834	rs45456893	Likely benign	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000403134	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs45456893
Clinvar_Rec_835	rs886051838	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000287062	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs886051838
Clinvar_Rec_836	rs189224493	Uncertain significance	Fanconi anemia	RCV000630952	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs189224493
Clinvar_Rec_837	rs1555471841	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000541813	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs1555471841
Clinvar_Rec_838	rs778888047	Uncertain significance	Hyaline fibromatosis syndrome	RCV000368644	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C2745948;228600;ORPHA2028;238861002;238867003	criteria provided, single submitter	tagSNP	rs778888047
Clinvar_Rec_839	rs143577626	Uncertain significance	Bone fragility with contractures, arterial rupture, and deafness;not provided	RCV001001983;RCV000659081	MedGen;OMIM;Orphanet	C2676285;612394;ORPHA300284;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143577626
Clinvar_Rec_840	rs886056064	Conflicting interpretations of pathogenicity	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type;Leigh syndrome	RCV000667732;RCV000267713	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1857355;220111;ORPHA70472;MedGen;256000;ORPHA506;29570005	criteria provided, conflicting interpretations	tagSNP	rs886056064
Clinvar_Rec_841	rs565424838	Uncertain significance	Trichohepatoenteric syndrome	RCV000329685	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	tagSNP	rs565424838
Clinvar_Rec_842	rs565424838	Uncertain significance	Trichohepatoenteric syndrome	RCV000384473	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs146543642
Clinvar_Rec_843	rs536450285	Likely benign	TAP1 deficiency, somatic;not provided	RCV000014734;RCV000554627	MedGen	C4016311;MedGen	criteria provided, single submitter	LD derived	rs121917702
Clinvar_Rec_844	rs150883479	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000377686;RCV000286836;RCV000339462;RCV000290278;RCV000347444;RCV000218437	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139283268
Clinvar_Rec_845	rs150883479	Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000398898;RCV000278080;RCV000399576;RCV000351738;RCV000336770;RCV000217809	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148243956
Clinvar_Rec_846	rs147566753	Benign/Likely benign	Diamond-Blackfan anemia;not provided	RCV000400619;RCV000858233	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147566753
Clinvar_Rec_847	rs1057517096	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz	RCV000411684	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057517096
Clinvar_Rec_848	rs560588199	Uncertain significance	4p partial monosomy syndrome	RCV000374182	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	LD derived	rs149980218
Clinvar_Rec_849	rs753823903	Pathogenic	Sandhoff disease;not provided	RCV000286253;RCV000723437	MedGen;OMIM;Orphanet;SNOMED CT	C0036161;268800;ORPHA796;23849003;MedGen	criteria provided, single submitter	tagSNP	rs753823903
Clinvar_Rec_850	rs373442996	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	RCV000412498	MedGen;OMIM	C4225312;616479	no assertion criteria provided	tagSNP	rs373442996
Clinvar_Rec_851	rs116782539	Likely benign	Kindler's syndrome	RCV000335730	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0406557;173650;ORPHA2908;238835001;238836000	criteria provided, single submitter	tagSNP	rs116782539
Clinvar_Rec_852	rs528866552	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Familial dilated cardiomyopathy;Ventricular tachycardia;not provided;not specified	RCV000157581;RCV000253868;RCV000624752;RCV000852616;RCV000172735;RCV000038798	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA217607;EFO;HP;C0042514;25569003;MedGen	criteria provided, conflicting interpretations	LD derived	rs141033098
Clinvar_Rec_853	rs147957747	Uncertain significance	Dilated cardiomyopathy 1W;not provided	RCV000533986;RCV000183998	MedGen;OMIM	C1969639;611407;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147957747
Clinvar_Rec_854	rs2229507	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1W;not specified	RCV000251434;RCV000408187;RCV000471871;RCV000038795	MedGen;OMIM	CN230736;MedGen;611407;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229507
Clinvar_Rec_855	rs104894515	Pathogenic	Chronic granulomatous disease;Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	RCV000208600;RCV000002348	MedGen;Orphanet;OMIM	C0018203;ORPHA379;MedGen;233690	no assertion criteria provided	tagSNP	rs104894515
Clinvar_Rec_856	rs780224924	Uncertain significance	Autism spectrum disorder	RCV000716610	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs780224924
Clinvar_Rec_857	rs185077096	Uncertain significance	Hereditary spastic paraplegia 7;not provided	RCV000804015;RCV000713479	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201543030
Clinvar_Rec_858	rs1555545553	Likely pathogenic	Fanconi anemia, complementation group A	RCV000672696	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs1555545553
Clinvar_Rec_859	rs3740066	Benign	Dubin-Johnson syndrome;not specified	RCV000396735;RCV000176843	MedGen;OMIM;Orphanet;SNOMED CT	C0022350;237500;ORPHA234;44553005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3740066
Clinvar_Rec_860	rs61761937	Benign/Likely benign	Split-hand/foot malformation;not specified	RCV000358964;RCV000173518	MedGen	C2699510;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61761937
Clinvar_Rec_861	rs139837778	Likely benign	Medulloblastoma	RCV000287872	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	criteria provided, single submitter	LD derived	rs115428806
Clinvar_Rec_862	rs2075607	Benign	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000129163;RCV000288977;RCV000860220;RCV000078914	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2075607
Clinvar_Rec_863	rs2075607	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000775660;RCV000586623;RCV000438894	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2075607
Clinvar_Rec_864	rs2075607	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000580582;RCV000198532;RCV000589890;RCV000421028	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2075607
Clinvar_Rec_865	rs1057517545	Uncertain significance	Peutz-Jeghers syndrome	RCV000412453	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1057517545
Clinvar_Rec_866	rs1057517545	Likely benign	Peutz-Jeghers syndrome	RCV000558641	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1057517545
Clinvar_Rec_867	rs3065757	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000285831;RCV000339391	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs3065757
Clinvar_Rec_868	rs3065757	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000316210;RCV000380225	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs3065757
Clinvar_Rec_869	rs397517411	Benign	Rasopathy	RCV000158020	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs397517411
Clinvar_Rec_870	rs554769753	Benign	Rasopathy	RCV000520281	MedGen;Orphanet	CN166718;ORPHA536391	reviewed by expert panel	LD derived	rs561400866
Clinvar_Rec_871	rs886054698	Uncertain significance	Spastic Paraplegia, Recessive	RCV000297227	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs886054698
Clinvar_Rec_872	rs559144002	Likely benign	Coffin-Siris syndrome	RCV000394535	MedGen;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009	criteria provided, single submitter	tagSNP	rs559144002
Clinvar_Rec_873	rs1555753680	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000558076	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555753680
Clinvar_Rec_874	rs1060504445	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001025980;RCV000476450	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504445
Clinvar_Rec_875	rs1380829783	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574874	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1380829783
Clinvar_Rec_876	rs878854239	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000232208	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs878854239
Clinvar_Rec_877	rs1060504436	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001019475;RCV000471640	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504436
Clinvar_Rec_878	rs797045980	Pathogenic	Rhabdoid tumor predisposition syndrome 2	RCV000193167	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs797045980
Clinvar_Rec_879	rs201986470	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562996;RCV000924852	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201986470
Clinvar_Rec_880	rs201986470	Pathogenic	Familial hypercholesterolemia 1	RCV000495936	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	LD derived	rs200793488
Clinvar_Rec_881	rs879254442	Pathogenic	Familial hypercholesterolemia 1	RCV000237708	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254442
Clinvar_Rec_882	rs55971831	Likely benign	Familial hypercholesterolemia 1	RCV000397548	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs55971831
Clinvar_Rec_883	rs55971831	Likely benign	Familial hypercholesterolemia 1	RCV000362391	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	LD derived	rs5742911
Clinvar_Rec_884	rs1406466561	Pathogenic	Deficiency of alpha-mannosidase	RCV000668093	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1406466561
Clinvar_Rec_885	rs199422281	Pathogenic	Aplastic anemia	RCV000032571	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002874;609135;ORPHA182040;306058006	no assertion criteria provided	tagSNP	rs199422281
Clinvar_Rec_886	rs142072676	Benign/Likely benign	Seizures;not provided;not specified	RCV000720304;RCV000952237;RCV000430643	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142072676
Clinvar_Rec_887	rs1555099892	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569901;RCV000979171	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555099892
Clinvar_Rec_888	rs745351684	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000551099	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs745351684
Clinvar_Rec_889	rs1162371435	Uncertain significance	Acute myeloid leukemia	RCV000631420	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs1162371435
Clinvar_Rec_890	rs3745972	Benign	Acute myeloid leukemia	RCV000020589	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	no assertion criteria provided	tagSNP	rs3745972
Clinvar_Rec_891	rs780345232	Uncertain significance	Acute myeloid leukemia	RCV000543650	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs780345232
Clinvar_Rec_892	rs780345232	Uncertain significance	Acute myeloid leukemia	RCV000685395	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs780345232
Clinvar_Rec_893	rs1799753	Benign	Diaphyseal dysplasia;not specified	RCV000032152;RCV000250799	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0011989;131300;ORPHA1328;34643004;MedGen	criteria provided, single submitter	LD derived	rs1800471
Clinvar_Rec_894	rs886054469	Uncertain significance	Diamond-Blackfan anemia	RCV000297896	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs886054469
Clinvar_Rec_895	rs886055673	Uncertain significance	Three M syndrome	RCV000316189	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	tagSNP	rs886055673
Clinvar_Rec_896	rs114517938	Uncertain significance	Familial renal glucosuria	RCV000304349	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007	criteria provided, single submitter	tagSNP	rs114517938
Clinvar_Rec_897	rs114517938	Conflicting interpretations of pathogenicity	Familial renal glucosuria;not provided	RCV000324812;RCV000957410	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007;MedGen	criteria provided, conflicting interpretations	LD derived	rs75646778
Clinvar_Rec_898	rs201190869	Benign/Likely benign	Kabuki syndrome;Kabuki syndrome 1;not provided;not specified	RCV000304939;RCV000659738;RCV000514938;RCV000121397	MedGen;Orphanet;SNOMED CT;OMIM	C0796004;ORPHA2322;313426007;MedGen;147920;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201190869
Clinvar_Rec_899	rs765867951	Uncertain significance	Kabuki syndrome	RCV000292512	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs765867951
Clinvar_Rec_900	rs201012894	Likely benign	Familial erythrocytosis	RCV000391890	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs201012894
Clinvar_Rec_901	rs886046110	Uncertain significance	Familial erythrocytosis	RCV000293906	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs886046110
Clinvar_Rec_902	rs781566823	Uncertain significance	Erythrocytosis, familial, 3	RCV000550056	MedGen;OMIM	C1853286;609820	criteria provided, single submitter	tagSNP	rs781566823
Clinvar_Rec_903	rs778549407	Conflicting interpretations of pathogenicity	Disorders of Intracellular Cobalamin Metabolism;not specified	RCV000362993;RCV000615564	MedGen	CN043592;MedGen	criteria provided, conflicting interpretations	tagSNP	rs778549407
Clinvar_Rec_904	rs375624016	Uncertain significance	Primary pulmonary hypertension	RCV000399637	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs375624016
Clinvar_Rec_905	rs375624016	Likely benign	Primary pulmonary hypertension	RCV000351561	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs375624016
Clinvar_Rec_906	rs1085307144	Pathogenic	Primary pulmonary hypertension	RCV000488574	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307144
Clinvar_Rec_907	rs561689866	Uncertain significance	Natural killer cell and glucocorticoid deficiency with DNA repair defect	RCV000277734	MedGen;OMIM;Orphanet	C1864947;609981;ORPHA75391	criteria provided, single submitter	LD derived	rs544019622
Clinvar_Rec_908	rs551951844	Uncertain significance	Dystrophic epidermolysis bullosa	RCV000352184	MedGen;SNOMED CT	C0079294;254185007	criteria provided, single submitter	tagSNP	rs551951844
Clinvar_Rec_909	rs138540017	Conflicting interpretations of pathogenicity	Nephrotic syndrome;Pierson syndrome;not provided	RCV000340672;RCV000302099;RCV000541504	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0027726;52254009;MedGen;609049;ORPHA2670;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138540017
Clinvar_Rec_910	rs41292360	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000368591;RCV000309339	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs41292360
Clinvar_Rec_911	rs549257131	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;not provided	RCV000389683;RCV000953852	MedGen	CN239310;MedGen	criteria provided, conflicting interpretations	tagSNP	rs549257131
Clinvar_Rec_912	rs1555201569	Uncertain significance	Cardiovascular phenotype	RCV000618987	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555201569
Clinvar_Rec_913	rs77937237	Uncertain significance	Stickler syndrome, type 5	RCV000660517	MedGen;OMIM	C3280342;614284	criteria provided, single submitter	tagSNP	rs77937237
Clinvar_Rec_914	rs782333619	Likely benign	Glucose-6-phosphate transport defect	RCV000673474	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs782333619
Clinvar_Rec_915	rs1555191117	Likely benign	Glucose-6-phosphate transport defect	RCV000669633	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1555191117
Clinvar_Rec_916	rs184332718	Likely benign	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not specified	RCV000311678;RCV000277603;RCV000611560	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs184332718
Clinvar_Rec_917	rs200075782	Pathogenic	Infantile neuroaxonal dystrophy;Iron accumulation in brain;not provided	RCV000023318;RCV000147282;RCV000255026	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0270724;256600;ORPHA35069;52713000;Human Phenotype Ontology;C4021076;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200075782
Clinvar_Rec_918	rs72647371	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000543807;RCV000543807	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs72647371
Clinvar_Rec_919	rs181882616	Uncertain significance	Triosephosphate isomerase deficiency	RCV000378691	MedGen;OMIM;Orphanet	C1860808;615512;ORPHA868	criteria provided, single submitter	tagSNP	rs181882616
Clinvar_Rec_920	rs915291720	Uncertain significance	Spastic paraplegia	RCV000555976	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs915291720
Clinvar_Rec_921	rs1060501870	Uncertain significance	Fanconi anemia	RCV000462923	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501870
Clinvar_Rec_922	rs886045277	Uncertain significance	Bare lymphocyte syndrome 2	RCV000381227	MedGen;OMIM;Orphanet	C2931418;209920;ORPHA572	criteria provided, single submitter	tagSNP	rs886045277
Clinvar_Rec_923	rs141377533	Likely benign	Congenital fiber-type disproportion;Nemaline myopathy	RCV000261240;RCV000360657	MedGen;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA607;75072002	criteria provided, single submitter	LD derived	rs74731791
Clinvar_Rec_924	rs751707982	Likely benign	Cardiomyopathy	RCV000774196	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs751707982
Clinvar_Rec_925	rs751707982	Conflicting interpretations of pathogenicity	Cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not specified	RCV000777940;RCV000545586;RCV000207998;RCV000600111	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA64746;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs751707982
Clinvar_Rec_926	rs267607681	Conflicting interpretations of pathogenicity	Cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided;not specified	RCV000772012;RCV000530832;RCV000057488;RCV000440584	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA64746;MedGen	criteria provided, conflicting interpretations	tagSNP	rs267607681
Clinvar_Rec_927	rs1286454662	Uncertain significance	History of neurodevelopmental disorder	RCV000717102	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1286454662
Clinvar_Rec_928	rs569233909	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Kleefstra syndrome 1;not provided;not specified	RCV000716857;RCV000399265;RCV000859638;RCV000192432	MedGen;OMIM;Orphanet	C2711754;MedGen;610253;ORPHA96147;MedGen	criteria provided, conflicting interpretations	LD derived	rs574514175
Clinvar_Rec_929	rs569233909	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Kleefstra syndrome 1;not provided;not specified	RCV000716859;RCV000307829;RCV000859639;RCV000194465	MedGen;OMIM;Orphanet	C2711754;MedGen;610253;ORPHA96147;MedGen	criteria provided, conflicting interpretations	LD derived	rs565065320
Clinvar_Rec_930	rs765468464	Uncertain significance	Immunodeficiency 28	RCV000652129	MedGen;OMIM;Orphanet;Orphanet	C4013947;614889;ORPHA319547;ORPHA319574	criteria provided, single submitter	tagSNP	rs765468464
Clinvar_Rec_931	rs562071800	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650887	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs562071800
Clinvar_Rec_932	rs1164408019	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565702	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1164408019
Clinvar_Rec_933	rs1327695331	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650764	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1327695331
Clinvar_Rec_934	rs1555228285	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000542991	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555228285
Clinvar_Rec_935	rs781978041	Likely benign	Adrenoleukodystrophy	RCV000371785	MedGen;OMIM;Orphanet;SNOMED CT	C0162309;300100;ORPHA43;65389002	criteria provided, single submitter	tagSNP	rs781978041
Clinvar_Rec_936	rs1334045176	Uncertain significance	Frontometaphyseal dysplasia;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640731;RCV000640731;RCV000640731;RCV000640731	MedGen;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C0265293;62803002;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1334045176
Clinvar_Rec_937	rs398122521	Pathogenic	Congenital short bowel syndrome, X-linked	RCV000043474	MedGen	C3806579	no assertion criteria provided	tagSNP	rs398122521
Clinvar_Rec_938	rs941318584	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640746;RCV000640746;RCV000640746;RCV000640746	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs941318584
Clinvar_Rec_939	rs139983160	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000770590;RCV000725641;RCV000379091	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139983160
Clinvar_Rec_940	rs202166344	Uncertain significance	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Hereditary leiomyomatosis and renal cell cancer;Multiple Cutaneous and Uterine Leiomyomas;not provided	RCV000204400;RCV000568788;RCV000346414;RCV000399999;RCV000195609	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C1708350;150800;ORPHA523;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs202166344
Clinvar_Rec_941	rs1567764064	Likely pathogenic	Glanzmann thrombasthenia	RCV000761244	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005	criteria provided, single submitter	tagSNP	rs1567764064
Clinvar_Rec_942	rs2325749	Benign	Pyridoxal phosphate-responsive seizures	RCV000304654	MedGen;OMIM;Orphanet	C1864723;610090;ORPHA79096	criteria provided, single submitter	tagSNP	rs2325749
Clinvar_Rec_943	rs72653173	Pathogenic	Osteogenesis imperfecta;Osteogenesis imperfecta type I;not provided	RCV000029575;RCV000551341;RCV000498745	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001;MedGen;166200;ORPHA216796;385482004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72653173
Clinvar_Rec_944	rs730882064	Pathogenic	Microphthalmia, isolated 6;not provided	RCV000024073;RCV001008778	MedGen;OMIM	C3150757;613517;MedGen	criteria provided, single submitter	tagSNP	rs730882064
Clinvar_Rec_945	rs139987168	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000358531	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs139987168
Clinvar_Rec_946	rs727504477	Uncertain significance	Cardiomyopathy;not specified	RCV000769070;RCV000155605	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727504477
Clinvar_Rec_947	rs117551279	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000769071;RCV000726445;RCV000185359	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs117551279
Clinvar_Rec_948	rs797045741	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000716366;RCV000873171;RCV000193261	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs797045741
Clinvar_Rec_949	rs764411401	Uncertain significance	History of neurodevelopmental disorder	RCV000717365	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs764411401
Clinvar_Rec_950	rs146554939	Uncertain significance	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia;not provided	RCV000542992;RCV000542992;RCV000984833	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280030;614172;ORPHA228423;MedGen;614038;ORPHA3226;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146554939
Clinvar_Rec_951	rs886050517	Uncertain significance	Congenital disorder of glycosylation	RCV000293011	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886050517
Clinvar_Rec_952	rs745419780	Uncertain significance	Primary ciliary dyskinesia	RCV000547557	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs745419780
Clinvar_Rec_953	rs745419780	Uncertain significance	Primary ciliary dyskinesia	RCV000694257	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs745419780
Clinvar_Rec_954	rs558130856	Uncertain significance	Congenital disorder of glycosylation	RCV000386576	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs571740661
Clinvar_Rec_955	rs773785078	Uncertain significance	Moyamoya disease 2	RCV000191943	MedGen;OMIM	C1846689;607151	no assertion criteria provided	tagSNP	rs773785078
Clinvar_Rec_956	rs538981847	Uncertain significance	Epileptic encephalopathy	RCV000704740	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs538981847
Clinvar_Rec_957	rs74811545	Benign	Severe congenital neutropenia	RCV000375830	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	LD derived	rs41296171
Clinvar_Rec_958	rs116168890	Likely benign	Diamond-Blackfan anemia	RCV000364295	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs116168890
Clinvar_Rec_959	rs375431575	Uncertain significance	Muscle eye brain disease	RCV000674794	MedGen;OMIM;Orphanet;SNOMED CT	C0457133;253280;ORPHA588;277950001	criteria provided, single submitter	tagSNP	rs375431575
Clinvar_Rec_960	rs138950267	Conflicting interpretations of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive;not provided	RCV000381350;RCV000270884;RCV000732410	MedGen	CN239202;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138950267
Clinvar_Rec_961	rs758249397	Uncertain significance	Familial hypercholesterolemia	RCV000776505	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs758249397
Clinvar_Rec_962	rs750531880	Pathogenic	Mucopolysaccharidosis, MPS-IV-B;not provided	RCV000670128;RCV000418628	MedGen;OMIM;Orphanet;SNOMED CT	C0086652;253010;ORPHA309310;238044004;MedGen	criteria provided, single submitter	tagSNP	rs750531880
Clinvar_Rec_963	rs1553663981	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000629683	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553663981
Clinvar_Rec_964	rs572236007	Benign	History of neurodevelopmental disorder;not specified	RCV000715491;RCV000114257	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs572236007
Clinvar_Rec_965	rs757953295	Likely benign	History of neurodevelopmental disorder	RCV000716829	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs757953295
Clinvar_Rec_966	rs1554891344	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582397	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554891344
Clinvar_Rec_967	rs398123083	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency;not provided	RCV000169627;RCV000790745	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123083
Clinvar_Rec_968	rs886053501	Uncertain significance	Li-Fraumeni syndrome	RCV000291727	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs886053501
Clinvar_Rec_969	rs1567542299	Pathogenic	Ovarian Neoplasms	RCV000785530	MeSH;MedGen	D010051;CN236629	no assertion criteria provided	tagSNP	rs1567542299
Clinvar_Rec_970	rs1555524470	Uncertain significance	Li-Fraumeni syndrome	RCV000554410	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1555524470
Clinvar_Rec_971	rs878854064	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	RCV001010274;RCV000475451	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854064
Clinvar_Rec_972	rs878854064	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided;not specified	RCV000571530;RCV000229754;RCV000662489;RCV000759369;RCV000780782	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854064
Clinvar_Rec_973	rs61462443	Uncertain significance	Oromandibular-limb hypogenesis spectrum	RCV000240501	MedGen;OMIM;Orphanet;SNOMED CT	C0221060;157900;ORPHA570;89444000	no assertion criteria provided	tagSNP	rs61462443
Clinvar_Rec_974	rs1130650	Benign/Likely benign	Purine-nucleoside phosphorylase deficiency;not specified	RCV000259695;RCV000127501	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1130650
Clinvar_Rec_975	rs1130650	Benign	NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM;Purine-nucleoside phosphorylase deficiency;not specified	RCV000015029;RCV000299797;RCV000127500	na;MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1049564
Clinvar_Rec_976	rs370869432	Uncertain significance	Pyridoxine-dependent epilepsy;not provided	RCV001071821;RCV000432711	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370869432
Clinvar_Rec_977	rs1057516172	Pathogenic	Blepharophimosis, ptosis, and epicanthus inversus	RCV000408845	MedGen;OMIM;Orphanet	C0220663;110100;ORPHA126	criteria provided, single submitter	tagSNP	rs1057516172
Clinvar_Rec_978	rs1559922136	Pathogenic	Blepharophimosis, ptosis, and epicanthus inversus	RCV000785852	MedGen;OMIM;Orphanet	C0220663;110100;ORPHA126	no assertion criteria provided	tagSNP	rs1559922136
Clinvar_Rec_979	rs1553752894	Pathogenic	Premature ovarian failure 3	RCV000625747	MedGen;OMIM	C1837008;608996	no assertion criteria provided	tagSNP	rs1553752894
Clinvar_Rec_980	rs1057516140	Pathogenic	Blepharophimosis, ptosis, and epicanthus inversus	RCV000408789	MedGen;OMIM;Orphanet	C0220663;110100;ORPHA126	criteria provided, single submitter	tagSNP	rs1057516140
Clinvar_Rec_981	rs281874719	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021551	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs281874719
Clinvar_Rec_982	rs773542837	Uncertain significance	Spastic paraplegia 48, autosomal recessive	RCV000687821	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511	criteria provided, single submitter	tagSNP	rs773542837
Clinvar_Rec_983	rs797044992	Pathogenic	Galloway-Mowat syndrome 1	RCV000190488	MedGen;OMIM	C4551772;251300	no assertion criteria provided	tagSNP	rs797044992
Clinvar_Rec_984	rs372441627	Uncertain significance	Fanconi anemia	RCV000456710	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs372441627
Clinvar_Rec_985	rs115450389	Benign/Likely benign	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis;not provided;not specified	RCV000382905;RCV000325915;RCV000858443;RCV000251318	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115450389
Clinvar_Rec_986	rs115450389	Benign/Likely benign	Haemorrhagic telangiectasia 1;Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis;not provided;not specified	RCV000148485;RCV000273165;RCV000365390;RCV000858405;RCV000246668	MedGen;OMIM	CN221549;MedGen;187300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116330805
Clinvar_Rec_987	rs41522944	Benign/Likely benign	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis;not provided;not specified	RCV000231697;RCV000329380;RCV000755522;RCV000251027	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41522944
Clinvar_Rec_988	rs369000939	Uncertain significance	Ehlers-Danlos syndrome, classic type;not provided	RCV000552389;RCV000200041	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369000939
Clinvar_Rec_989	rs201463583	Likely benign	Ehlers-Danlos syndrome, classic type	RCV000529872	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs201463583
Clinvar_Rec_990	rs1030105888	Uncertain significance	Cardiovascular phenotype	RCV000621706	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1030105888
Clinvar_Rec_991	rs374377228	Likely benign	Ehlers-Danlos syndrome, classic type	RCV000634666	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	LD derived	rs140031713
Clinvar_Rec_992	rs886056591	Uncertain significance	Bohring-Opitz syndrome	RCV000315984	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs886056591
Clinvar_Rec_993	rs534633106	Benign	Bohring-Opitz syndrome	RCV000373045	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs534633106
Clinvar_Rec_994	rs145592971	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Naxos disease;not specified	RCV001058398;RCV001058398;RCV000039084	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145592971
Clinvar_Rec_995	rs148484473	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Naxos disease;not provided	RCV001050476;RCV001050476;RCV000183487	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148484473
Clinvar_Rec_996	rs886052936	Uncertain significance	Hyper-IgE syndrome	RCV000339096	MedGen;Orphanet	CN236381;ORPHA331223	criteria provided, single submitter	tagSNP	rs886052936
Clinvar_Rec_997	rs746006696	Pathogenic	Inborn genetic diseases	RCV000622512	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs746006696
Clinvar_Rec_998	rs577714887	Pathogenic	PONTOCEREBELLAR HYPOPLASIA, TYPE 12	RCV000735979	MedGen;OMIM	C4748873;618266	no assertion criteria provided	tagSNP	rs577714887
Clinvar_Rec_999	rs200201028	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000662703;RCV000771434;RCV000465391;RCV000426671	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs193149108
Clinvar_Rec_1000	rs566359654	Uncertain significance	Distal Renal Tubular Acidosis, Dominant;Hemolytic anemia;Spherocytosis, Dominant	RCV000307890;RCV000407012;RCV000362553	MedGen;MedGen;Orphanet	CN239155;Human Phenotype Ontology;C0002878;ORPHA98363;MedGen	criteria provided, single submitter	tagSNP	rs566359654
Clinvar_Rec_1001	rs201566948	Uncertain significance	Cohen syndrome;not specified	RCV000765981;RCV000499478	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201566948
Clinvar_Rec_1002	rs63750347	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV000491026;RCV000808434;RCV000076700	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63750347
Clinvar_Rec_1003	rs886062641	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000360162	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs886062641
Clinvar_Rec_1004	rs886062642	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000260652	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs886062642
Clinvar_Rec_1005	rs886062643	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000315932	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs886062643
Clinvar_Rec_1006	rs886062644	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000375660	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs886062644
Clinvar_Rec_1007	rs116602666	Likely benign	Noonan syndrome-like disorder with loose anagen hair 1	RCV000353925	MedGen;OMIM	C4478716;607721	criteria provided, single submitter	LD derived	rs114628508
Clinvar_Rec_1008	rs544280047	Likely benign	Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant	RCV000396181;RCV000278529	MedGen	CN239310;MedGen	criteria provided, single submitter	tagSNP	rs544280047
Clinvar_Rec_1009	rs544280047	Likely benign	Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant	RCV000398523;RCV000338219	MedGen	CN239310;MedGen	criteria provided, single submitter	LD derived	rs557535632
Clinvar_Rec_1010	rs534586960	Uncertain significance	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy	RCV000304421;RCV000357989;RCV000361509;RCV000392509	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs534586960
Clinvar_Rec_1011	rs534586960	Conflicting interpretations of pathogenicity	CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000308620;RCV000394377;RCV000359192;RCV000940784;RCV000223100	MedGen;OMIM;SNOMED CT	CN239227;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	LD derived	rs568741210
Clinvar_Rec_1012	rs201389565	Uncertain significance	Metachondromatosis;Noonan syndrome;Noonan syndrome with multiple lentigines	RCV000330825;RCV000295495;RCV000385402	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet	C0410530;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA500	criteria provided, single submitter	LD derived	rs545369072
Clinvar_Rec_1013	rs886049282	Uncertain significance	Lethal Encephalopathy	RCV000323522	MedGen	CN239368	criteria provided, single submitter	tagSNP	rs886049282
Clinvar_Rec_1014	rs886049495	Uncertain significance	Lissencephaly, Dominant	RCV000377363	MedGen	CN239306	criteria provided, single submitter	tagSNP	rs886049495
Clinvar_Rec_1015	rs886050511	Uncertain significance	Congenital disorder of glycosylation	RCV000298338	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886050511
Clinvar_Rec_1016	rs886054102	Uncertain significance	Aural atresia, congenital	RCV000349246	MedGen;OMIM	C1842937;607842	criteria provided, single submitter	tagSNP	rs886054102
Clinvar_Rec_1017	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000349990	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs112448103
Clinvar_Rec_1018	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000329439	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs16858921
Clinvar_Rec_1019	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000286812	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs8762
Clinvar_Rec_1020	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000277036	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs16828882
Clinvar_Rec_1021	rs7277748	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;not provided	RCV000265188;RCV000644458	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7277748
Clinvar_Rec_1022	rs752946440	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000281906	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	tagSNP	rs752946440
Clinvar_Rec_1023	rs552002776	Uncertain significance	Sensory Neuropathy with Spastic Paraplegia	RCV000285904	MedGen	CN239462	criteria provided, single submitter	tagSNP	rs552002776
Clinvar_Rec_1024	rs747127939	Uncertain significance	Mitochondrial complex I deficiency	RCV000386841	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs747127939
Clinvar_Rec_1025	rs544958043	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant;Charcot-Marie-Tooth disease type 4	RCV000351743;RCV000278594	MedGen;Orphanet;SNOMED CT	CN239175;MedGen;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs544958043
Clinvar_Rec_1026	rs568455874	not provided	Glaucoma 1, open angle, F	RCV000086400	MedGen;OMIM	C1863926;603383	no assertion provided	LD derived	rs104886467
Clinvar_Rec_1027	rs199801990	Likely benign	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1	RCV000322990	MedGen;OMIM	C4551768;125310	criteria provided, single submitter	LD derived	rs202027632
Clinvar_Rec_1028	rs2279001	risk factor	Celiac disease 4	RCV000007955	MedGen;OMIM	C1857847;609753	no assertion criteria provided	LD derived	rs2305764
Clinvar_Rec_1029	rs543433495	Uncertain significance	MHC Class II Deficiency	RCV000351131	MedGen	CN239286	criteria provided, single submitter	LD derived	rs201778172
Clinvar_Rec_1030	rs1050483	Likely benign	MHC Class II Deficiency	RCV000404126	MedGen	CN239286	criteria provided, single submitter	tagSNP	rs1050483
Clinvar_Rec_1031	rs1568578747	Uncertain significance	Bare lymphocyte syndrome 2	RCV000692999	MedGen;OMIM;Orphanet	C2931418;209920;ORPHA572	criteria provided, single submitter	tagSNP	rs1568578747
Clinvar_Rec_1032	rs1064797235	Likely pathogenic	Neurodegeneration with brain iron accumulation 4;not provided	RCV000502393;RCV000488270	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064797235
Clinvar_Rec_1033	rs1555714878	Uncertain significance	Spastic paraplegia 43, autosomal recessive	RCV000539152	MedGen;OMIM;Orphanet	C2680446;615043;ORPHA320370	criteria provided, single submitter	tagSNP	rs1555714878
Clinvar_Rec_1034	rs104893803	Pathogenic	Anophthalmia/microphthalmia-esophageal atresia syndrome	RCV000013666	MedGen;OMIM;Orphanet	C1859773;206900;ORPHA77298	no assertion criteria provided	tagSNP	rs104893803
Clinvar_Rec_1035	rs774055789	Uncertain significance	3 Methylcrotonyl-CoA carboxylase 1 deficiency	RCV000653487	MedGen;OMIM	CN028786;210200	criteria provided, single submitter	tagSNP	rs774055789
Clinvar_Rec_1036	rs73045906	Likely benign	Leukoencephalopathy with vanishing white matter	RCV000364925	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	LD derived	rs14955
Clinvar_Rec_1037	rs777760880	Uncertain significance	Leukoencephalopathy with vanishing white matter	RCV000348605	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	tagSNP	rs777760880
Clinvar_Rec_1038	rs200607940	Uncertain significance	Orofacial cleft 8	RCV000779404	MedGen;OMIM	C1851878;618149	criteria provided, single submitter	tagSNP	rs200607940
Clinvar_Rec_1039	rs864309517	Pathogenic	Neonatal ichthyosis-sclerosing cholangitis syndrome	RCV000006462	MedGen;OMIM;Orphanet	C1843355;607626;ORPHA59303	no assertion criteria provided	tagSNP	rs864309517
Clinvar_Rec_1040	rs7624750	Benign	Dominant hereditary optic atrophy;Optic Atrophy, Dominant;not provided;not specified	RCV000987377;RCV000339112;RCV000676692;RCV000081768	MedGen;OMIM;Orphanet;SNOMED CT	C0338508;165500;ORPHA98673;2065009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7624750
Clinvar_Rec_1041	rs7624750	Benign	Dominant hereditary optic atrophy;Optic Atrophy, Dominant;not provided;not specified	RCV000576858;RCV000284298;RCV000676700;RCV000081757	MedGen;OMIM;Orphanet;SNOMED CT	C0338508;165500;ORPHA98673;2065009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9851685
Clinvar_Rec_1042	rs7624750	Benign	Optic Atrophy, Dominant	RCV000297019	MedGen	CN239213	criteria provided, single submitter	LD derived	rs1056390
Clinvar_Rec_1043	rs7624750	Benign	Optic Atrophy, Dominant	RCV000361318	MedGen	CN239213	criteria provided, single submitter	LD derived	rs11719309
Clinvar_Rec_1044	rs1061648	Benign	Optic Atrophy, Dominant	RCV000261365	MedGen	CN239213	criteria provided, single submitter	tagSNP	rs1061648
Clinvar_Rec_1045	rs1061648	Benign	Optic Atrophy, Dominant	RCV000290844	MedGen	CN239213	criteria provided, single submitter	LD derived	rs12630
Clinvar_Rec_1046	rs193292545	Likely benign	Optic Atrophy, Dominant	RCV000325992	MedGen	CN239213	criteria provided, single submitter	tagSNP	rs193292545
Clinvar_Rec_1047	rs370149386	Uncertain significance	Pyruvate dehydrogenase lipoic acid synthetase deficiency	RCV000700777	MedGen;OMIM;Orphanet	C3280887;614462;ORPHA401859	criteria provided, single submitter	LD derived	rs570807277
Clinvar_Rec_1048	rs537791504	Conflicting interpretations of pathogenicity	Paragangliomas 5;not specified	RCV000412179;RCV000601664	MedGen;OMIM	C3279992;614165;MedGen	criteria provided, conflicting interpretations	LD derived	rs201245536
Clinvar_Rec_1049	rs185717406	Likely benign	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000550313;RCV000550313	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	LD derived	rs185679709
Clinvar_Rec_1050	rs1553996340	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572197	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553996340
Clinvar_Rec_1051	rs763680697	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564955	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763680697
Clinvar_Rec_1052	rs560932680	Uncertain significance	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma	RCV001013984;RCV000279041;RCV000317717;RCV000380480	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs560932680
Clinvar_Rec_1053	rs1061517	Pathogenic/Likely pathogenic	Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5	RCV001041479;RCV000410820;RCV001041479	MedGen;OMIM;Orphanet;OMIM;OMIM	C1855008;252011;ORPHA3208;MedGen;614165;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs1061517
Clinvar_Rec_1054	rs1061517	Pathogenic	Mitochondrial complex II deficiency	RCV000009283	MedGen;OMIM;Orphanet	C1855008;252011;ORPHA3208	no assertion criteria provided	tagSNP	rs1061517
Clinvar_Rec_1055	rs1061517	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5;not provided	RCV000567727;RCV000230468;RCV000230468;RCV000656497;RCV000579224	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165;MedGen;614165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1061517
Clinvar_Rec_1056	rs770866830	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV001011369;RCV000473159;RCV000473159	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs770866830
Clinvar_Rec_1057	rs1560985157	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000699826;RCV000699826	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1560985157
Clinvar_Rec_1058	rs933414586	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649403;RCV000649403	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs933414586
Clinvar_Rec_1059	rs1560987863	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000698681;RCV000698681	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1560987863
Clinvar_Rec_1060	rs878854638	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5	RCV000575963;RCV000468097;RCV000468097;RCV000662791	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854638
Clinvar_Rec_1061	rs878854638	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000234148;RCV000234148	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs878854638
Clinvar_Rec_1062	rs1553999461	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649410;RCV000649410	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1553999461
Clinvar_Rec_1063	rs773218958	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649424;RCV000649424	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs773218958
Clinvar_Rec_1064	rs528628545	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000531820;RCV000531820	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs528628545
Clinvar_Rec_1065	rs1561010778	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000704274;RCV000704274	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1561010778
Clinvar_Rec_1066	rs758054627	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV000570413;RCV000460218;RCV000460218	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs758054627
Clinvar_Rec_1067	rs1420345359	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000545606;RCV000545606	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1420345359
Clinvar_Rec_1068	rs60587941	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649402;RCV000649402	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs60587941
Clinvar_Rec_1069	rs775095158	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000540758;RCV000540758	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs775095158
Clinvar_Rec_1070	rs1060502997	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000461566;RCV000461566	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1060502997
Clinvar_Rec_1071	rs878855299	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000228644;RCV000228644	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs878855299
Clinvar_Rec_1072	rs1561213697	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000686126;RCV000686126	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1561213697
Clinvar_Rec_1073	rs878855306	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000232759;RCV000232759	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs878855306
Clinvar_Rec_1074	rs1561214494	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000700454;RCV000700454	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1561214494
Clinvar_Rec_1075	rs1271112115	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000702828;RCV000702828	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1271112115
Clinvar_Rec_1076	rs568966234	Benign/Likely benign	Aplastic anemia;Dyskeratosis Congenita, Recessive;Idiopathic fibrosing alveolitis, chronic form;not provided	RCV000283594;RCV000378023;RCV000341534;RCV000648982	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	HP;C0002874;609135;ORPHA182040;306058006;MedGen;178500;28168000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs574645600
Clinvar_Rec_1077	rs140887831	Conflicting interpretations of pathogenicity	Mitochondrial complex I deficiency;not provided	RCV000378962;RCV000909647	MedGen	C2936907;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140887831
Clinvar_Rec_1078	rs140467698	Uncertain significance	Intellectual Disability, Recessive	RCV000396213	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs140467698
Clinvar_Rec_1079	rs112951498	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided;not specified	RCV000716782;RCV000308319;RCV000224138;RCV000192762	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs112951498
Clinvar_Rec_1080	rs149678769	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism;Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	RCV000387179;RCV000816569	MedGen;OMIM;Orphanet	CN043592;MedGen;236270;ORPHA2169	criteria provided, multiple submitters, no conflicts	tagSNP	rs149678769
Clinvar_Rec_1081	rs10380	Benign	Disorders of Intracellular Cobalamin Metabolism;Gastrointestinal stromal tumor;not specified	RCV000302798;RCV000144924;RCV000126880	MedGen;MeSH;MedGen;OMIM;Orphanet	CN043592;Human Phenotype Ontology;D046152;C0238198;606764;ORPHA44890;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs10380
Clinvar_Rec_1082	rs567838778	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000291703	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs567838778
Clinvar_Rec_1083	rs141509761	Uncertain significance	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	RCV000552383	MedGen;OMIM;Orphanet	C1850395;256840;ORPHA139578	criteria provided, single submitter	tagSNP	rs141509761
Clinvar_Rec_1084	rs886037886	Pathogenic	Autoinflammation, panniculitis, and dermatosis syndrome	RCV000240604	MedGen;OMIM;Orphanet	C4310614;617099;ORPHA500062	no assertion criteria provided	tagSNP	rs886037886
Clinvar_Rec_1085	rs3045	Benign	Chondrocalcinosis;Craniometaphyseal dysplasia	RCV000375465;RCV000318528	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0553730;ORPHA1416;MedGen;269300;ORPHA1522;36601008	criteria provided, single submitter	tagSNP	rs3045
Clinvar_Rec_1086	rs3045	Benign	Chondrocalcinosis;Craniometaphyseal dysplasia	RCV000331602;RCV000386125	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0553730;ORPHA1416;MedGen;269300;ORPHA1522;36601008	criteria provided, single submitter	LD derived	rs527918862
Clinvar_Rec_1087	rs190646987	Likely benign	Chondrocalcinosis;Craniometaphyseal dysplasia	RCV000310558;RCV000404728	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0553730;ORPHA1416;MedGen;269300;ORPHA1522;36601008	criteria provided, single submitter	LD derived	rs183138464
Clinvar_Rec_1088	rs1565076874	Uncertain significance	Joubert syndrome 16	RCV000702869	MedGen;OMIM	C3280906;614465	criteria provided, single submitter	tagSNP	rs1565076874
Clinvar_Rec_1089	rs886048410	Uncertain significance	Joubert syndrome	RCV000308334	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs886048410
Clinvar_Rec_1090	rs752462796	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	RCV000698562;RCV001013718	MedGen;Orphanet;Orphanet;SNOMED CT	C1708353;ORPHA29072;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs752462796
Clinvar_Rec_1091	rs549312009	Likely benign	Pheochromocytoma	RCV000282634	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs549312009
Clinvar_Rec_1092	rs147192139	Conflicting interpretations of pathogenicity	Iron Overload;Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not provided	RCV000362495;RCV000350824;RCV000408253;RCV000311148;RCV000086092	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0282193;MedGen;153700;ORPHA1243;90036004;MedGen;193220;ORPHA3086;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147192139
Clinvar_Rec_1093	rs886048429	Uncertain significance	Iron Overload	RCV000335527	MedGen	C0282193	criteria provided, single submitter	tagSNP	rs886048429
Clinvar_Rec_1094	rs1057516190	Likely pathogenic	Familial partial lipodystrophy 3	RCV000408866	MedGen;OMIM;Orphanet	C1720861;604367;ORPHA79083	no assertion criteria provided	tagSNP	rs1057516190
Clinvar_Rec_1095	rs17850877	Likely benign	Congenital generalized lipodystrophy (disease);Neurologic Disorders/Seipinopathy;not provided	RCV000359811;RCV000267577;RCV000143800	Human Phenotype Ontology;MedGen	HP;C0221032;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17850877
Clinvar_Rec_1096	rs147049969	Benign	Congenital generalized lipodystrophy (disease);Neurologic Disorders/Seipinopathy;not specified	RCV000305595;RCV000358073;RCV000242906	Human Phenotype Ontology;MedGen	HP;C0221032;na;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79586077
Clinvar_Rec_1097	rs147049969	Benign	Monogenic diabetes;not specified	RCV000445370;RCV000250923	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115116507
Clinvar_Rec_1098	rs864622016	Uncertain significance	Malignant tumor of prostate	RCV000205995	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs864622016
Clinvar_Rec_1099	rs753546335	Uncertain significance	Hereditary sensory neuropathy type IF	RCV000651993	MedGen;OMIM	C3810194;615632	criteria provided, single submitter	tagSNP	rs753546335
Clinvar_Rec_1100	rs777177875	Uncertain significance	Peripheral neuropathy	RCV000637022	Human Phenotype Ontology;MedGen;Orphanet	HP;C0031117;ORPHA98496	criteria provided, single submitter	tagSNP	rs777177875
Clinvar_Rec_1101	rs773595572	Uncertain significance	Glycogen storage disease, type V	RCV000320655	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009	criteria provided, single submitter	tagSNP	rs773595572
Clinvar_Rec_1102	rs886048470	Uncertain significance	Hyperparathyroidism;Multiple endocrine neoplasia	RCV000292086;RCV000384043	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT	HP;C0020502;ORPHA181408;MedGen;ORPHA276161;46724008	criteria provided, single submitter	tagSNP	rs886048470
Clinvar_Rec_1103	rs1411766225	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000697463	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1411766225
Clinvar_Rec_1104	rs1565636898	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000701461	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1565636898
Clinvar_Rec_1105	rs1565636917	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000691457	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1565636917
Clinvar_Rec_1106	rs753022747	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000540194	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs753022747
Clinvar_Rec_1107	rs753022747	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	RCV000561798;RCV000233918	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0025267;131100;ORPHA652;30664006	criteria provided, multiple submitters, no conflicts	tagSNP	rs753022747
Clinvar_Rec_1108	rs150202288	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000687699	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs150202288
Clinvar_Rec_1109	rs150202288	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000232118	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs150202288
Clinvar_Rec_1110	rs794728659	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000491410;RCV000182462	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728659
Clinvar_Rec_1111	rs141679530	Pathogenic	Multiple endocrine neoplasia, type 1	RCV000550819	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs141679530
Clinvar_Rec_1112	rs141679530	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hyperparathyroidism;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 1	RCV000561706;RCV000276552;RCV000368793;RCV000168243	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C0020502;ORPHA181408;MedGen;ORPHA276161;46724008;MeSH;C0025267;131100;ORPHA652;30664006	criteria provided, conflicting interpretations	tagSNP	rs141679530
Clinvar_Rec_1113	rs1057427859	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000537416	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1057427859
Clinvar_Rec_1114	rs1413990417	Likely benign	Multiple endocrine neoplasia, type 1	RCV000632154	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1413990417
Clinvar_Rec_1115	rs1060499981	Likely pathogenic	Multiple endocrine neoplasia, type 1	RCV000467767	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1060499981
Clinvar_Rec_1116	rs1114167528	Likely pathogenic	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	RCV000491702;RCV001002226	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0025267;131100;ORPHA652;30664006	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167528
Clinvar_Rec_1117	rs1555164245	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000527282	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1555164245
Clinvar_Rec_1118	rs1114167495	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000491775	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167495
Clinvar_Rec_1119	rs771554497	Likely benign	Multiple endocrine neoplasia, type 1	RCV000632162	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs771554497
Clinvar_Rec_1120	rs771554497	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1	RCV000492008;RCV000229989	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0025267;131100;ORPHA652;30664006	criteria provided, multiple submitters, no conflicts	tagSNP	rs771554497
Clinvar_Rec_1121	rs371192390	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 1;not provided;not specified	RCV000491878;RCV000123385;RCV000757460;RCV000609004	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0025267;131100;ORPHA652;30664006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs371192390
Clinvar_Rec_1122	rs192374348	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021065;RCV000464805	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs184896922
Clinvar_Rec_1123	rs192374348	Likely benign	Multiple endocrine neoplasia, type 1	RCV000632172	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	LD derived	rs184896922
Clinvar_Rec_1124	rs185608576	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000564641;RCV000473714	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs547249181
Clinvar_Rec_1125	rs886048493	Uncertain significance	Aicardi Goutieres syndrome	RCV000295343	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006	criteria provided, single submitter	tagSNP	rs886048493
Clinvar_Rec_1126	rs148410446	Conflicting interpretations of pathogenicity	Cutis laxa, recessive;not provided	RCV000363804;RCV000788132	MedGen	C2931134;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148410446
Clinvar_Rec_1127	rs886048512	Uncertain significance	Nestor-Guillermo progeria syndrome	RCV000363414	MedGen;OMIM;Orphanet	C3151446;614008;ORPHA280576	criteria provided, single submitter	tagSNP	rs886048512
Clinvar_Rec_1128	rs14157	Benign	Nestor-Guillermo progeria syndrome	RCV000261504	MedGen;OMIM;Orphanet	C3151446;614008;ORPHA280576	criteria provided, single submitter	tagSNP	rs14157
Clinvar_Rec_1129	rs886048514	Uncertain significance	Nestor-Guillermo progeria syndrome	RCV000389669	MedGen;OMIM;Orphanet	C3151446;614008;ORPHA280576	criteria provided, single submitter	tagSNP	rs886048514
Clinvar_Rec_1130	rs774850290	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	RCV000703778	MedGen;OMIM	C3809042;615287	criteria provided, single submitter	tagSNP	rs774850290
Clinvar_Rec_1131	rs11822028	Benign	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified	RCV000385461;RCV000709650;RCV000860149;RCV000082204	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;209900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10896125
Clinvar_Rec_1132	rs11822028	Likely benign	Bardet-Biedl syndrome	RCV000406652	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	LD derived	rs3741360
Clinvar_Rec_1133	rs573673	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000404452;RCV000517206	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs639938
Clinvar_Rec_1134	rs768932281	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000385474	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs768932281
Clinvar_Rec_1135	rs141552726	Benign	Pyruvate carboxylase deficiency;not provided;not specified	RCV001001986;RCV000904100;RCV000186112	MedGen;OMIM;Orphanet;SNOMED CT	C0034341;266150;ORPHA3008;87694001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45471099
Clinvar_Rec_1136	rs137853935	Pathogenic	Cold-induced sweating syndrome 2	RCV000020693	MedGen;OMIM	C1853198;610313	no assertion criteria provided	tagSNP	rs137853935
Clinvar_Rec_1137	rs371393269	Uncertain significance	Congenital Stationary Night Blindness, Recessive	RCV000289386	MedGen	CN239273	criteria provided, single submitter	LD derived	rs77828276
Clinvar_Rec_1138	rs565802060	Uncertain significance	Congenital Stationary Night Blindness, Recessive	RCV000338204	MedGen	CN239273	criteria provided, single submitter	tagSNP	rs565802060
Clinvar_Rec_1139	rs371636632	Likely benign	Hereditary cancer-predisposing syndrome	RCV000562200	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs371636632
Clinvar_Rec_1140	rs267606545	Likely pathogenic	Somatotroph adenoma	RCV000034071	MedGen;OMIM;SNOMED CT	C4538355;102200;254957009	no assertion criteria provided	tagSNP	rs267606545
Clinvar_Rec_1141	rs1175753689	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572711	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1175753689
Clinvar_Rec_1142	rs1384518387	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571549	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1384518387
Clinvar_Rec_1143	rs886048586	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000281628;RCV000374785	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs886048586
Clinvar_Rec_1144	rs150990241	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000363981;RCV000307097	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	LD derived	rs184136353
Clinvar_Rec_1145	rs1057519574	Likely pathogenic	Osteoporosis with pseudoglioma	RCV000417043	MedGen;OMIM;Orphanet;SNOMED CT	C0432252;259770;ORPHA2788;254112001	no assertion criteria provided	tagSNP	rs1057519574
Clinvar_Rec_1146	rs770383372	Pathogenic	Inborn genetic diseases	RCV000190810	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs770383372
Clinvar_Rec_1147	rs377144001	not provided	Polycystic kidney disease, adult type	RCV000162088	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008	no assertion provided	tagSNP	rs377144001
Clinvar_Rec_1148	rs80358317	Conflicting interpretations of pathogenicity	Exudative vitreoretinopathy 4;not provided	RCV000490288;RCV000486498	MedGen;OMIM	C1866176;601813;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358317
Clinvar_Rec_1149	rs1164401206	Likely benign	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1	RCV000527377;RCV000527377	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4015349;616155;ORPHA443073;MedGen;604320;ORPHA98920	criteria provided, single submitter	tagSNP	rs1164401206
Clinvar_Rec_1150	rs886048605	Uncertain significance	Spinal muscular atrophy	RCV000280189	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007	criteria provided, single submitter	tagSNP	rs886048605
Clinvar_Rec_1151	rs1555247978	Likely benign	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1	RCV000539971;RCV000539971	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4015349;616155;ORPHA443073;MedGen;604320;ORPHA98920	criteria provided, single submitter	tagSNP	rs1555247978
Clinvar_Rec_1152	rs77822399	Conflicting interpretations of pathogenicity	Spinal muscular atrophy;not provided;not specified	RCV000318937;RCV000555689;RCV000250041	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs77822399
Clinvar_Rec_1153	rs111366439	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided	RCV000703580;RCV000703580;RCV000442407	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4015349;616155;ORPHA443073;MedGen;604320;ORPHA98920;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112495985
Clinvar_Rec_1154	rs372629862	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy;Spinal muscular atrophy, distal, autosomal recessive, 1	RCV000536432;RCV000319866;RCV000536432	MedGen;OMIM;Orphanet;MedGen;SNOMED CT;OMIM;Orphanet	C4015349;616155;ORPHA443073;Human Phenotype Ontology;C0026847;5262007;MedGen;604320;ORPHA98920	criteria provided, multiple submitters, no conflicts	tagSNP	rs372629862
Clinvar_Rec_1155	rs117542830	Uncertain significance	Spinal muscular atrophy	RCV000267930	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007	criteria provided, single submitter	tagSNP	rs117542830
Clinvar_Rec_1156	rs115772206	Conflicting interpretations of pathogenicity	Spinal muscular atrophy;not provided;not specified	RCV000368667;RCV000829332;RCV000248990	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007;MedGen	criteria provided, conflicting interpretations	LD derived	rs115320302
Clinvar_Rec_1157	rs369723935	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000399171	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs369723935
Clinvar_Rec_1158	rs771619043	Uncertain significance	Caveolinopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Dominant;Long QT syndrome;Romano-Ward syndrome	RCV000399735;RCV000300805;RCV000353360;RCV000340636;RCV000301814	MedGen;Orphanet;MedGen;Orphanet;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN043575;ORPHA207078;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs771619043
Clinvar_Rec_1159	rs28942092	Uncertain significance	Atrioventricular septal defect 2;not provided	RCV000003597;RCV000498207	MedGen;OMIM	C1853508;606217;MedGen	criteria provided, single submitter	tagSNP	rs28942092
Clinvar_Rec_1160	rs10258	Benign	Atrioventricular septal defect 2;not specified	RCV000234032;RCV000124605	MedGen;OMIM	C1853508;606217;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs76764016
Clinvar_Rec_1161	rs370453093	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574494;RCV000199646	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201663073
Clinvar_Rec_1162	rs1060503561	Uncertain significance	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV000462197;RCV000574549;RCV000462197	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503561
Clinvar_Rec_1163	rs417164	Likely benign	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;not provided	RCV000575638;RCV000412359;RCV000204195	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs417164
Clinvar_Rec_1164	rs199959170	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000631272;RCV000631272	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs199959170
Clinvar_Rec_1165	rs769658318	Uncertain significance	Von Hippel-Lindau syndrome	RCV000767233	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs769658318
Clinvar_Rec_1166	rs730882039	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000161098	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs730882039
Clinvar_Rec_1167	rs869025620	Pathogenic	Von Hippel-Lindau syndrome	RCV000208849	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	no assertion criteria provided	tagSNP	rs869025620
Clinvar_Rec_1168	rs5030803	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;not provided	RCV000698497;RCV000698497;RCV000484327	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030803
Clinvar_Rec_1169	rs5030803	Uncertain significance	Von Hippel-Lindau syndrome	RCV000767236	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs5030803
Clinvar_Rec_1170	rs1060503554	Uncertain significance	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV000466296;RCV000571595;RCV000466296	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503554
Clinvar_Rec_1171	rs1060503554	Uncertain significance	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV000693934;RCV001014879;RCV000693934	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503554
Clinvar_Rec_1172	rs786202787	Pathogenic	Von Hippel-Lindau syndrome	RCV000590356	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs786202787
Clinvar_Rec_1173	rs786202787	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000165774	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202787
Clinvar_Rec_1174	rs5030805	Pathogenic	Von Hippel-Lindau syndrome	RCV000767244	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs5030805
Clinvar_Rec_1175	rs73024533	no interpretation for the single variant	Von Hippel-Lindau syndrome	RCV001007628	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	no interpretation for the single variant	tagSNP	rs73024533
Clinvar_Rec_1176	rs1272767361	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000631265;RCV000631265	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1272767361
Clinvar_Rec_1177	rs869025644	Pathogenic	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	RCV000687965;RCV000208802;RCV000687965	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs869025644
Clinvar_Rec_1178	rs1559428091	Likely pathogenic	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000707189;RCV000707189	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1559428091
Clinvar_Rec_1179	rs193922610	Likely pathogenic	Von Hippel-Lindau syndrome;not provided	RCV000030585;RCV000679036	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs193922610
Clinvar_Rec_1180	rs104893830	Conflicting interpretations of pathogenicity	Von Hippel-Lindau syndrome	RCV000588434	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, conflicting interpretations	tagSNP	rs104893830
Clinvar_Rec_1181	rs104893830	Pathogenic	Erythrocytosis, familial, 2;Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	RCV000002317;RCV001071915;RCV000492250;RCV000030586;RCV001071915	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs104893830
Clinvar_Rec_1182	rs1553619963	Likely pathogenic	Von Hippel-Lindau syndrome	RCV000590750	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1553619963
Clinvar_Rec_1183	rs1559428134	Pathogenic	Von Hippel-Lindau syndrome	RCV000767267	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1559428134
Clinvar_Rec_1184	rs1347416980	Pathogenic	Von Hippel-Lindau syndrome	RCV000589183	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1347416980
Clinvar_Rec_1185	rs1131690961	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000492347	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690961
Clinvar_Rec_1186	rs1060503565	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000473892;RCV000473892	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1060503565
Clinvar_Rec_1187	rs869025651	Pathogenic	Von Hippel-Lindau syndrome	RCV000208791	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	no assertion criteria provided	tagSNP	rs869025651
Clinvar_Rec_1188	rs869025650	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000631288;RCV000631288	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs869025650
Clinvar_Rec_1189	rs869025650	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000698934;RCV000698934	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs869025650
Clinvar_Rec_1190	rs869025650	Pathogenic	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	RCV000692586;RCV000208850;RCV000692586	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs869025650
Clinvar_Rec_1191	rs749704215	Pathogenic	Von Hippel-Lindau syndrome	RCV000767273	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs749704215
Clinvar_Rec_1192	rs104893825	Pathogenic	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV000220823;RCV000002310	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs104893825
Clinvar_Rec_1193	rs397516445	Pathogenic	Von Hippel-Lindau syndrome	RCV000767280	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs397516445
Clinvar_Rec_1194	rs397516445	Uncertain significance	Von Hippel-Lindau syndrome	RCV000767281	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs397516445
Clinvar_Rec_1195	rs397516445	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome	RCV001023359;RCV000036549	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516445
Clinvar_Rec_1196	rs5030820	Pathogenic	Erythrocytosis, familial, 2;Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Pheochromocytoma;Pheochromocytoma;Renal cell carcinoma, nonpapillary;Renal cell carcinoma, papillary, 1;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome;not provided	RCV000627746;RCV000763092;RCV000132159;RCV000002303;RCV000763092;RCV000763092;RCV000435817;RCV000002302;RCV000627746;RCV000763092;RCV000213079	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;MedGen;OMIM;MedGen;OMIM;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;263400;ORPHA238557;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0031511;171300;Human Phenotype Ontology;C0031511;171300;MedGen;144700;ORPHA319276;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030820
Clinvar_Rec_1197	rs5030820	Pathogenic/Likely pathogenic	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	RCV000466046;RCV000002304;RCV000466046	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030820
Clinvar_Rec_1198	rs1559429736	Pathogenic	Von Hippel-Lindau syndrome	RCV000767286	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1559429736
Clinvar_Rec_1199	rs755146587	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000694261;RCV000694261	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs755146587
Clinvar_Rec_1200	rs5030822	Pathogenic/Likely pathogenic	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome	RCV000631291;RCV000492520;RCV000631291;RCV000767287	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030822
Clinvar_Rec_1201	rs5030822	Pathogenic	Von Hippel-Lindau syndrome	RCV000767288	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs5030822
Clinvar_Rec_1202	rs5030822	Pathogenic	Von Hippel-Lindau syndrome	RCV000767289	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs5030822
Clinvar_Rec_1203	rs377715747	Conflicting interpretations of pathogenicity	Erythrocytosis, familial, 2;Hereditary cancer-predisposing syndrome;Von Hippel-Lindau syndrome;Von Hippel-Lindau syndrome;not provided	RCV000524495;RCV000569566;RCV000148921;RCV000524495;RCV000480432	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;ORPHA140162;699346009;MedGen;193300;ORPHA892;46659004;MedGen;193300;ORPHA892;46659004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377715747
Clinvar_Rec_1204	rs1559429840	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000697499;RCV000697499	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs1559429840
Clinvar_Rec_1205	rs28940301	Pathogenic	Erythrocytosis, familial, 2	RCV000002323	MedGen;OMIM;Orphanet	C1837915;263400;ORPHA238557	no assertion criteria provided	tagSNP	rs28940301
Clinvar_Rec_1206	rs779514074	Uncertain significance	Erythrocytosis, familial, 2;Von Hippel-Lindau syndrome	RCV000467837;RCV000467837	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1837915;263400;ORPHA238557;MedGen;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs779514074
Clinvar_Rec_1207	rs886057704	Uncertain significance	Von Hippel-Lindau syndrome	RCV000400790	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs886057704
Clinvar_Rec_1208	rs1553650477	Pathogenic	Familial partial lipodystrophy 3	RCV000499764	MedGen;OMIM;Orphanet	C1720861;604367;ORPHA79083	criteria provided, single submitter	tagSNP	rs1553650477
Clinvar_Rec_1209	rs886057903	Uncertain significance	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Familial partial lipodystrophy;Obesity	RCV000339953;RCV000399303;RCV000285072	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C4016738;MedGen;ORPHA98306;49292002;Human Phenotype Ontology;D009765;C0028754;601665;414916001	criteria provided, single submitter	tagSNP	rs886057903
Clinvar_Rec_1210	rs754200115	Uncertain significance	Pontoneocerebellar hypoplasia	RCV000320619	MedGen;SNOMED CT	C1261175;373666002	criteria provided, single submitter	tagSNP	rs754200115
Clinvar_Rec_1211	rs139545175	Uncertain significance	Pontoneocerebellar hypoplasia	RCV000356276	MedGen;SNOMED CT	C1261175;373666002	criteria provided, single submitter	tagSNP	rs139545175
Clinvar_Rec_1212	rs371820097	Uncertain significance	Noonan syndrome;Noonan syndrome with multiple lentigines	RCV000291851;RCV000386250	MeSH;MedGen;Orphanet;SNOMED CT;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;ORPHA500	criteria provided, single submitter	tagSNP	rs371820097
Clinvar_Rec_1213	rs371820097	Uncertain significance	Noonan syndrome;Noonan syndrome with multiple lentigines	RCV000276718;RCV000331775	MeSH;MedGen;Orphanet;SNOMED CT;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;ORPHA500	criteria provided, single submitter	tagSNP	rs371820097
Clinvar_Rec_1214	rs587777586	Pathogenic	Cardiomyopathy, dilated, 1NN	RCV000131334	MedGen;OMIM	C4014656;615916	no assertion criteria provided	tagSNP	rs587777586
Clinvar_Rec_1215	rs1043953	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000284996;RCV000295901	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs1043953
Clinvar_Rec_1216	rs1043953	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000318138;RCV000302250	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs8516
Clinvar_Rec_1217	rs1043953	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000305702;RCV000263158	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs2470458
Clinvar_Rec_1218	rs1043953	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000353421;RCV000296984	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs2470352
Clinvar_Rec_1219	rs141474582	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000336550;RCV000382192	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs141474582
Clinvar_Rec_1220	rs13069	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000296687;RCV000287769	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs13069
Clinvar_Rec_1221	rs13069	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000372953;RCV000340739	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs10468
Clinvar_Rec_1222	rs58476065	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000351511	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs58476065
Clinvar_Rec_1223	rs886058034	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000392778	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs886058034
Clinvar_Rec_1224	rs145011666	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000311890	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs145011666
Clinvar_Rec_1225	rs9842062	Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Xeroderma pigmentosum	RCV000321675;RCV000404690	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs9842062
Clinvar_Rec_1226	rs886058039	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000388000	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs886058039
Clinvar_Rec_1227	rs2227998	Benign	Xeroderma pigmentosum;not specified	RCV000314393;RCV000122327	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2227998
Clinvar_Rec_1228	rs3731131	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000351511	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	LD derived	rs58476065
Clinvar_Rec_1229	rs1553605670	Uncertain significance	Xeroderma pigmentosum, group C	RCV000674982	MedGen;OMIM;SNOMED CT	C2752147;278720;25784009	criteria provided, single submitter	tagSNP	rs1553605670
Clinvar_Rec_1230	rs1450238352	Pathogenic	Xeroderma pigmentosum, group C	RCV000671910	MedGen;OMIM;SNOMED CT	C2752147;278720;25784009	criteria provided, single submitter	tagSNP	rs1450238352
Clinvar_Rec_1231	rs1870134	Benign	Xeroderma pigmentosum;not specified	RCV000333184;RCV000122323	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1870134
Clinvar_Rec_1232	rs193920739	Uncertain significance	Malignant tumor of prostate	RCV000149027	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920739
Clinvar_Rec_1233	rs111352454	Benign	Rasopathy;not provided;not specified	RCV000522686;RCV000227939;RCV000038458	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs111352454
Clinvar_Rec_1234	rs587782949	Uncertain significance	Costello syndrome;Pulmonic stenosis (disease);Supravalvar aortic stenosis;not provided	RCV000524082;RCV000143899;RCV000143899;RCV000157920	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0587248;218040;ORPHA3071;309776008;Human Phenotype Ontology;C1956257;265500;Human Phenotype Ontology;C0003499;185500;ORPHA3193;268185002;MedGen	reviewed by expert panel	tagSNP	rs587782949
Clinvar_Rec_1235	rs1135401947	Uncertain significance	Mental retardation, autosomal dominant 24	RCV000496316	MedGen;OMIM	C4014414;615828	criteria provided, single submitter	tagSNP	rs1135401947
Clinvar_Rec_1236	rs886048658	Uncertain significance	Deficiency of transaldolase	RCV000310145	MedGen;OMIM;Orphanet;SNOMED CT	C1291329;606003;ORPHA101028;124252008	criteria provided, single submitter	tagSNP	rs886048658
Clinvar_Rec_1237	rs116673603	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	RCV000266570	MedGen	CN239237	criteria provided, single submitter	tagSNP	rs116673603
Clinvar_Rec_1238	rs530218927	Uncertain significance	Early infantile epileptic encephalopathy;Early myoclonic encephalopathy;not provided	RCV000636420;RCV000765022;RCV000189318	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C4552072;ORPHA1934;MedGen;609304;ORPHA1935;44423001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs535927522
Clinvar_Rec_1239	rs566778019	Likely benign	Neuronal ceroid lipofuscinosis	RCV000477425	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	LD derived	rs200875086
Clinvar_Rec_1240	rs8839	Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000328943	MedGen	CN239251	criteria provided, single submitter	tagSNP	rs8839
Clinvar_Rec_1241	rs569051167	Uncertain significance	Arthrogryposis multiplex congenita;Arthrogryposis multiplex congenita distal	RCV000305926;RCV000404460	Human Phenotype Ontology;MeSH;MedGen;Orphanet	HP;D001176;C0003886;ORPHA1037;na	criteria provided, single submitter	LD derived	rs201612866
Clinvar_Rec_1242	rs753342439	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000543063	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs753342439
Clinvar_Rec_1243	rs1564930282	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000706635	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1564930282
Clinvar_Rec_1244	rs1319558011	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000555220	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1319558011
Clinvar_Rec_1245	rs1565091023	Uncertain significance	Combined immunodeficiency due to STIM1 deficiency;Myopathy, tubular aggregate, 1;Stormorken syndrome	RCV000694278;RCV000694278;RCV000694278	MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet	C2748557;612783;ORPHA317430;MedGen;160565;MedGen;185070;ORPHA3204	criteria provided, single submitter	tagSNP	rs1565091023
Clinvar_Rec_1246	rs142239530	Conflicting interpretations of pathogenicity	Combined immunodeficiency due to STIM1 deficiency;Myopathy with tubular aggregates;Stormorken syndrome;Stormorken syndrome	RCV000532168;RCV000532168;RCV000532168;RCV000626054	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C2748557;612783;ORPHA317430;MedGen;ORPHA2593;240087000;MedGen;185070;ORPHA3204;MedGen;185070;ORPHA3204	criteria provided, conflicting interpretations	tagSNP	rs142239530
Clinvar_Rec_1247	rs765041336	Uncertain significance	Combined immunodeficiency due to STIM1 deficiency;Myopathy, tubular aggregate, 1;Stormorken syndrome	RCV000688494;RCV000688494;RCV000688494	MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet	C2748557;612783;ORPHA317430;MedGen;160565;MedGen;185070;ORPHA3204	criteria provided, single submitter	tagSNP	rs765041336
Clinvar_Rec_1248	rs1135101	other	HEMOGLOBIN SANTANDER	RCV000016872	-	-	no assertion criteria provided	tagSNP	rs1135101
Clinvar_Rec_1249	rs1141387	Pathogenic	Erythrocytosis;Erythrocytosis 6, familial	RCV000016552;RCV000641578	MedGen;OMIM	C1527405;MedGen;617980	no assertion criteria provided	tagSNP	rs1141387
Clinvar_Rec_1250	rs1554933751	Likely pathogenic	Niemann-Pick disease, type A	RCV000670505	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	criteria provided, single submitter	tagSNP	rs1554933751
Clinvar_Rec_1251	rs1057516949	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A;Niemann-Pick disease, type A;Niemann-Pick disease, type B	RCV000411564;RCV001067896;RCV001067896	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006;MedGen;257200;ORPHA77292;52165006;MedGen;607616;ORPHA77293;39390005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057516949
Clinvar_Rec_1252	rs875989835	Pathogenic	Niemann-Pick disease, type A	RCV000211502	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	no assertion criteria provided	tagSNP	rs875989835
Clinvar_Rec_1253	rs398123479	Pathogenic/Likely pathogenic	Niemann-Pick disease, type A;Niemann-Pick disease, type A;Niemann-Pick disease, type B;Niemann-Pick disease, type B;not provided;not specified	RCV000175626;RCV000821795;RCV000821795;RCV000984226;RCV000414126;RCV000781868	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006;MedGen;257200;ORPHA77292;52165006;MedGen;607616;ORPHA77293;39390005;MedGen;607616;ORPHA77293;39390005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123479
Clinvar_Rec_1254	rs886048445	Uncertain significance	Sphingomyelin/cholesterol lipidosis	RCV000328829	MedGen;SNOMED CT	C0028064;58459009	criteria provided, single submitter	tagSNP	rs886048445
Clinvar_Rec_1255	rs1554934463	Uncertain significance	Niemann-Pick disease, type A	RCV000667440	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	criteria provided, single submitter	tagSNP	rs1554934463
Clinvar_Rec_1256	rs371837210	Conflicting interpretations of pathogenicity	Niemann-Pick disease, type A	RCV000504182	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	criteria provided, conflicting interpretations	tagSNP	rs371837210
Clinvar_Rec_1257	rs886048448	Uncertain significance	Sphingomyelin/cholesterol lipidosis	RCV000277855	MedGen;SNOMED CT	C0028064;58459009	criteria provided, single submitter	tagSNP	rs886048448
Clinvar_Rec_1258	rs1234007742	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000701076	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs1234007742
Clinvar_Rec_1259	rs886048538	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000375789	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs886048538
Clinvar_Rec_1260	rs1564854760	Uncertain significance	Ceroid lipofuscinosis neuronal 2;Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	RCV000758017;RCV000758017	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1876161;204500;ORPHA228349;MedGen;609270;ORPHA284324	criteria provided, single submitter	tagSNP	rs1564854760
Clinvar_Rec_1261	rs1060502179	Likely pathogenic	Neuronal ceroid lipofuscinosis	RCV000465968	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs1060502179
Clinvar_Rec_1262	rs1314595290	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000632686	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs1314595290
Clinvar_Rec_1263	rs747260298	Conflicting interpretations of pathogenicity	Neuronal ceroid lipofuscinosis;not specified	RCV000690336;RCV000429292	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs747260298
Clinvar_Rec_1264	rs483352918	Pathogenic	Van Maldergem syndrome 1	RCV000074482	MedGen;OMIM	C4551950;601390	no assertion criteria provided	tagSNP	rs483352918
Clinvar_Rec_1265	rs1057519307	Pathogenic	Epileptic encephalopathy, early infantile, 49	RCV000415577	MedGen;OMIM	C4310635;617281	no assertion criteria provided	tagSNP	rs1057519307
Clinvar_Rec_1266	rs886048775	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000284915	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs886048775
Clinvar_Rec_1267	rs368381654	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000198390	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs368381654
Clinvar_Rec_1268	rs1060500000	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000476662	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1060500000
Clinvar_Rec_1269	rs577874347	Uncertain significance	ABCC8-related disorder	RCV000723284	-	-	no assertion criteria provided	LD derived	rs565662182
Clinvar_Rec_1270	rs12278644	Likely benign	Hyperinsulinism, Dominant/Recessive;Maturity onset diabetes mellitus in young;Transient Neonatal Diabetes, Dominant	RCV000328163;RCV000382740;RCV000273280	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239464;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007;MedGen	criteria provided, single submitter	LD derived	rs5209
Clinvar_Rec_1271	rs193929357	Pathogenic	Permanent neonatal diabetes mellitus	RCV000020362	MedGen;OMIM;Orphanet	C1833104;606176;ORPHA99885	no assertion criteria provided	tagSNP	rs193929357
Clinvar_Rec_1272	rs587783671	Likely pathogenic	Neonatal insulin-dependent diabetes mellitus	RCV000146109	Human Phenotype Ontology;MedGen	HP;C3278636	criteria provided, single submitter	tagSNP	rs587783671
Clinvar_Rec_1273	rs80356622	Pathogenic	Permanent neonatal diabetes mellitus	RCV000009207	MedGen;OMIM;Orphanet	C1833104;606176;ORPHA99885	no assertion criteria provided	tagSNP	rs80356622
Clinvar_Rec_1274	rs112070496	Benign/Likely benign	Hyperinsulinism, Dominant/Recessive;Maturity onset diabetes mellitus in young;Permanent neonatal diabetes mellitus;Transient Neonatal Diabetes, Dominant;not provided;not specified	RCV000335585;RCV000272386;RCV000380410;RCV000285274;RCV000969057;RCV000194046	MedGen;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	CN239464;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007;MedGen;606176;ORPHA99885;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112070496
Clinvar_Rec_1275	rs112070496	Benign/Likely benign	Hyperinsulinism, Dominant/Recessive;Permanent neonatal diabetes mellitus;Transient Neonatal Diabetes, Dominant;not provided;not specified	RCV000291223;RCV000378065;RCV000343814;RCV000873407;RCV000246698	MedGen;OMIM;Orphanet	CN239464;MedGen;606176;ORPHA99885;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113282901
Clinvar_Rec_1276	rs74602396	Likely benign	Hermansky-Pudlak syndrome	RCV000404926	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs74602396
Clinvar_Rec_1277	rs1565053147	Likely pathogenic	Dilated cardiomyopathy	RCV000710022	MedGen	CN235865	no assertion criteria provided	tagSNP	rs1565053147
Clinvar_Rec_1278	rs869025577	Pathogenic	Microcephaly, congenital cataract, and psoriasiform dermatitis	RCV000208578	MedGen;OMIM;Orphanet	C4225189;616834;ORPHA488168	no assertion criteria provided	tagSNP	rs869025577
Clinvar_Rec_1279	rs864622627	Uncertain significance	Pancreatic adenocarcinoma	RCV000703452	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs864622627
Clinvar_Rec_1280	rs864622627	Uncertain significance	Pancreatic adenocarcinoma	RCV000205931	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs864622627
Clinvar_Rec_1281	rs886059223	Uncertain significance	Short Rib Polydactyly Syndrome	RCV000362683	MedGen;Orphanet	C0036996;ORPHA1505	criteria provided, single submitter	tagSNP	rs886059223
Clinvar_Rec_1282	rs776865078	Uncertain significance	Aspartylglucosaminuria	RCV000703347	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268225;208400;ORPHA93	criteria provided, single submitter	tagSNP	rs776865078
Clinvar_Rec_1283	rs15735	Benign	Diaphyseal medullary stenosis-bone malignancy syndrome	RCV000367107	MedGen;OMIM;Orphanet	C1862177;112250;ORPHA85182	criteria provided, single submitter	tagSNP	rs15735
Clinvar_Rec_1284	rs78195856	Benign	Diaphyseal medullary stenosis-bone malignancy syndrome	RCV000396754	MedGen;OMIM;Orphanet	C1862177;112250;ORPHA85182	criteria provided, single submitter	tagSNP	rs78195856
Clinvar_Rec_1285	rs138870323	Likely benign	Diaphyseal medullary stenosis-bone malignancy syndrome	RCV000377383	MedGen;OMIM;Orphanet	C1862177;112250;ORPHA85182	criteria provided, single submitter	tagSNP	rs138870323
Clinvar_Rec_1286	rs587782792	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000132342;RCV000687345;RCV000236474	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587782792
Clinvar_Rec_1287	rs776987532	Uncertain significance	Hereditary cutaneous melanoma;Melanoma-pancreatic cancer syndrome;not provided	RCV000638997;RCV000409400;RCV000679793	MedGen;OMIM;Orphanet	C1512419;MedGen;606719;ORPHA404560;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776987532
Clinvar_Rec_1288	rs200699377	Pathogenic	Bardet-Biedl syndrome 20	RCV000240867	MedGen;OMIM	C4310707;617119	no assertion criteria provided	tagSNP	rs200699377
Clinvar_Rec_1289	rs1057519476	Uncertain significance	Axenfeld-Rieger syndrome type 3	RCV000416526	MedGen;OMIM	C2678503;602482	no assertion criteria provided	tagSNP	rs1057519476
Clinvar_Rec_1290	rs1057519480	Pathogenic	Axenfeld-Rieger syndrome type 3	RCV000416550	MedGen;OMIM	C2678503;602482	criteria provided, single submitter	tagSNP	rs1057519480
Clinvar_Rec_1291	rs397514568	Conflicting interpretations of pathogenicity	Polymicrogyria, asymmetric	RCV000032933	MedGen;OMIM;Orphanet	C3552236;610031;ORPHA300573	no assertion criteria provided	tagSNP	rs397514568
Clinvar_Rec_1292	rs145555213	Pathogenic	Spastic paraplegia 77, autosomal recessive	RCV000239526	MedGen;OMIM;Orphanet	C4310750;617046;ORPHA466722	criteria provided, single submitter	tagSNP	rs145555213
Clinvar_Rec_1293	rs1561990280	Uncertain significance	Combined oxidative phosphorylation deficiency 14	RCV000714917	MedGen;OMIM;Orphanet	C3554168;614946;ORPHA319519	criteria provided, single submitter	tagSNP	rs1561990280
Clinvar_Rec_1294	rs1561990552	Likely pathogenic	Combined oxidative phosphorylation deficiency 14	RCV000714942	MedGen;OMIM;Orphanet	C3554168;614946;ORPHA319519	criteria provided, single submitter	tagSNP	rs1561990552
Clinvar_Rec_1295	rs139071827	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided;not specified	RCV000349114;RCV000776152;RCV000244439;RCV000345788;RCV000402455;RCV000234774;RCV000038007	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139071827
Clinvar_Rec_1296	rs1561693903	Uncertain significance	Cardiomyopathy	RCV000772944	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1561693903
Clinvar_Rec_1297	rs563387839	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Dilated cardiomyopathy with woolly hair and keratoderma	RCV001034964;RCV000774071;RCV001034964	MedGen;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1843896;607450;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;605676;ORPHA65282	criteria provided, multiple submitters, no conflicts	tagSNP	rs563387839
Clinvar_Rec_1298	rs535762713	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;not provided	RCV000203129;RCV000620457;RCV000998523	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs535762713
Clinvar_Rec_1299	rs886061746	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome	RCV000405001;RCV000306826;RCV000345587	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165	criteria provided, single submitter	tagSNP	rs886061746
Clinvar_Rec_1300	rs199795359	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000247902;RCV000171915;RCV000038029	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199795359
Clinvar_Rec_1301	rs778448699	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000705333;RCV000705333	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs778448699
Clinvar_Rec_1302	rs764189408	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000530405;RCV000530405	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs764189408
Clinvar_Rec_1303	rs138599871	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000778002;RCV000766823;RCV000156223	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138599871
Clinvar_Rec_1304	rs61731476	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not specified	RCV000275312;RCV000204773;RCV000776024;RCV000249259;RCV000204773;RCV000332838;RCV000371155;RCV000038032	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;607450;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;605676;ORPHA65282;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61731476
Clinvar_Rec_1305	rs200671552	Likely benign	Cardiomyopathy;not specified	RCV000771991;RCV000422804	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200671552
Clinvar_Rec_1306	rs571103583	Benign/Likely benign	Cardiomyopathy;not provided	RCV000776324;RCV000458936	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs571103583
Clinvar_Rec_1307	rs1374798133	Uncertain significance	Cardiovascular phenotype	RCV000620317	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1374798133
Clinvar_Rec_1308	rs886039009	Pathogenic	Cardiovascular phenotype	RCV000242394	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039009
Clinvar_Rec_1309	rs1561698750	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000698502;RCV000698502	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561698750
Clinvar_Rec_1310	rs771910118	Likely benign	Cardiovascular phenotype;not provided	RCV000617833;RCV000866932	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771910118
Clinvar_Rec_1311	rs113902911	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided;not specified	RCV000202684;RCV000770244;RCV000852994;RCV000617274;RCV000852994;RCV000317162;RCV000348311;RCV000845305;RCV000038043	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113902911
Clinvar_Rec_1312	rs760433367	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not specified	RCV000352223;RCV000406003;RCV000407699;RCV000215393	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760433367
Clinvar_Rec_1313	rs397516941	Uncertain significance	Cardiomyopathy;not specified	RCV000770249;RCV000038051	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516941
Clinvar_Rec_1314	rs28763966	Benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not specified	RCV000266738;RCV000473526;RCV000776075;RCV000246748;RCV000473526;RCV000353572;RCV000359064;RCV000038054	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;607450;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;605676;ORPHA65282;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28763966
Clinvar_Rec_1315	rs141227126	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided;not specified	RCV000260972;RCV000771265;RCV000619367;RCV000375667;RCV000318522;RCV000124828;RCV000180988	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141227126
Clinvar_Rec_1316	rs928167721	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000641784;RCV000641784	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs928167721
Clinvar_Rec_1317	rs372452104	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000702078;RCV000702078	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs372452104
Clinvar_Rec_1318	rs142803672	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;not provided;not specified	RCV000627160;RCV000415705;RCV000465510;RCV000769230;RCV000617235;RCV000465510;RCV000172541;RCV000038060	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;607450;MedGen;607450;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;605676;ORPHA65282;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142803672
Clinvar_Rec_1319	rs147415451	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Epidermolysis bullosa simplex due to plakophilin deficiency;Primary dilated cardiomyopathy;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided;not specified	RCV000405736;RCV000769231;RCV000618693;RCV000314923;RCV000853150;RCV000369571;RCV000172542;RCV000154715	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;EFO;HP;C0007193;ORPHA217604;195021004;MedGen;607655;ORPHA293165;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147415451
Clinvar_Rec_1320	rs201984474	Likely benign	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000641826;RCV000641826	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs201984474
Clinvar_Rec_1321	rs1178938416	Uncertain significance	Hypertrophic cardiomyopathy	RCV000497488	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1178938416
Clinvar_Rec_1322	rs774763657	Pathogenic/Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma;not provided	RCV000458285;RCV000458285;RCV000522863	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774763657
Clinvar_Rec_1323	rs1561701401	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000689988;RCV000689988	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561701401
Clinvar_Rec_1324	rs794728126	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma;not provided	RCV001069898;RCV001069898;RCV000181332	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728126
Clinvar_Rec_1325	rs1554108784	Uncertain significance	Cardiovascular phenotype	RCV000619282	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554108784
Clinvar_Rec_1326	rs730880092	Likely pathogenic	Cardiomyopathy	RCV000157216	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs730880092
Clinvar_Rec_1327	rs746533703	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000641795;RCV000641795	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs746533703
Clinvar_Rec_1328	rs730880088	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000157208	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	no assertion criteria provided	tagSNP	rs730880088
Clinvar_Rec_1329	rs1561702771	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000685128;RCV000685128	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561702771
Clinvar_Rec_1330	rs752057967	Uncertain significance	Cardiomyopathy	RCV000774264	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs752057967
Clinvar_Rec_1331	rs1561702898	Uncertain significance	Cardiomyopathy	RCV000769238	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1561702898
Clinvar_Rec_1332	rs374262024	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000641801;RCV000641801	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs374262024
Clinvar_Rec_1333	rs747248981	Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000772007;RCV000251216;RCV000845361;RCV000436656	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747248981
Clinvar_Rec_1334	rs768837509	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000694395;RCV000694395	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs768837509
Clinvar_Rec_1335	rs760501352	Uncertain significance	Cardiac arrest	RCV000208310	Human Phenotype Ontology;MedGen	HP;C0018790	criteria provided, single submitter	tagSNP	rs760501352
Clinvar_Rec_1336	rs757394666	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000236392;RCV000236392	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs757394666
Clinvar_Rec_1337	rs1561703922	Likely pathogenic	Primary dilated cardiomyopathy	RCV000678479	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	no assertion criteria provided	tagSNP	rs1561703922
Clinvar_Rec_1338	rs1561704475	Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000696017;RCV000696017	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561704475
Clinvar_Rec_1339	rs924262414	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000641819;RCV000641819	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs924262414
Clinvar_Rec_1340	rs530530741	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000461903;RCV000461903	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	LD derived	rs144465638
Clinvar_Rec_1341	rs1554139314	Uncertain significance	Cataract 13 with adult i phenotype	RCV000558209	MedGen;OMIM	C3805373;116700	criteria provided, single submitter	tagSNP	rs1554139314
Clinvar_Rec_1342	rs778713861	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000316590	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs778713861
Clinvar_Rec_1343	rs768999974	Uncertain significance	Adenylosuccinate lyase deficiency	RCV000634535	MedGen;OMIM;Orphanet;SNOMED CT	C0268126;103050;ORPHA46;15285008	criteria provided, single submitter	tagSNP	rs768999974
Clinvar_Rec_1344	rs116913445	Likely benign	Rubinstein-Taybi syndrome 1	RCV000275906	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs116913445
Clinvar_Rec_1345	rs1193355188	Uncertain significance	Colorectal cancer;Rubinstein-Taybi syndrome 2	RCV000701477;RCV000701477	MedGen;OMIM;Orphanet	C1527249;MedGen;613684;ORPHA353284	criteria provided, single submitter	tagSNP	rs1193355188
Clinvar_Rec_1346	rs757476470	Uncertain significance	Rubinstein-Taybi syndrome	RCV000785095	MedGen;Orphanet;SNOMED CT	C0035934;ORPHA783;45582004	criteria provided, single submitter	tagSNP	rs757476470
Clinvar_Rec_1347	rs876661318	Pathogenic	Rubinstein-Taybi syndrome 2	RCV000223783	MedGen;OMIM;Orphanet	C3150941;613684;ORPHA353284	no assertion criteria provided	tagSNP	rs876661318
Clinvar_Rec_1348	rs1555907094	Uncertain significance	Inborn genetic diseases	RCV000623538	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555907094
Clinvar_Rec_1349	rs1569120861	Uncertain significance	Colorectal cancer;Rubinstein-Taybi syndrome 2	RCV000694355;RCV000694355	MedGen;OMIM;Orphanet	C1527249;MedGen;613684;ORPHA353284	criteria provided, single submitter	tagSNP	rs1569120861
Clinvar_Rec_1350	rs144626200	Conflicting interpretations of pathogenicity	Rubinstein-Taybi syndrome 1;not provided	RCV000370836;RCV000177531	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144626200
Clinvar_Rec_1351	rs34985152	Benign/Likely benign	Rubinstein-Taybi syndrome 1;not provided;not specified	RCV000371855;RCV000535525;RCV000145960	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34985152
Clinvar_Rec_1352	rs34985152	Benign/Likely benign	Rubinstein-Taybi syndrome 1;not provided;not specified	RCV000264377;RCV000541877;RCV000079672	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35560602
Clinvar_Rec_1353	rs886057569	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000318251	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs886057569
Clinvar_Rec_1354	rs542406106	Likely benign	Rubinstein-Taybi syndrome 1	RCV000265988	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs542406106
Clinvar_Rec_1355	rs542406106	Likely benign	Rubinstein-Taybi syndrome 1	RCV000387518	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	LD derived	rs199994113
Clinvar_Rec_1356	rs920471641	Likely benign	Common variable immunodeficiency 4	RCV000648329	MedGen;OMIM	C3150739;613494	criteria provided, single submitter	tagSNP	rs920471641
Clinvar_Rec_1357	rs191051580	Uncertain significance	Alpha-N-acetylgalactosaminidase deficiency type 2	RCV000266713	MedGen;OMIM;Orphanet	C1836522;609242;ORPHA79280	criteria provided, single submitter	tagSNP	rs191051580
Clinvar_Rec_1358	rs150991002	Likely benign	Alpha-N-acetylgalactosaminidase deficiency type 2	RCV000305453	MedGen;OMIM;Orphanet	C1836522;609242;ORPHA79280	criteria provided, single submitter	tagSNP	rs150991002
Clinvar_Rec_1359	rs2229547	Likely benign	Alpha-N-acetylgalactosaminidase deficiency type 2;not provided	RCV000388080;RCV000675775	MedGen;OMIM;Orphanet	C1836522;609242;ORPHA79280;MedGen	criteria provided, single submitter	tagSNP	rs2229547
Clinvar_Rec_1360	rs886057599	Uncertain significance	Alpha-N-acetylgalactosaminidase deficiency type 2	RCV000319772	MedGen;OMIM;Orphanet	C1836522;609242;ORPHA79280	criteria provided, single submitter	tagSNP	rs886057599
Clinvar_Rec_1361	rs763006208	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33;Mitochondrial diseases	RCV000710001;RCV000680373	MedGen;OMIM;Orphanet	C4748840;618253;MedGen;ORPHA68380	no assertion criteria provided	tagSNP	rs763006208
Clinvar_Rec_1362	rs1569146542	Pathogenic/Likely pathogenic	Intellectual disability;TCF20-related condition	RCV000850207;RCV000770764	Human Phenotype Ontology;MedGen	HP;C1843367;na	criteria provided, multiple submitters, no conflicts	tagSNP	rs1569146542
Clinvar_Rec_1363	rs535759667	Uncertain significance	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	RCV000371120	MedGen;OMIM;Orphanet	C3278664;613070;ORPHA217371	criteria provided, single submitter	LD derived	rs542744986
Clinvar_Rec_1364	rs760147302	Uncertain significance	Congenital disorder of glycosylation	RCV000319030	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs760147302
Clinvar_Rec_1365	rs1321	Benign	Congenital disorder of glycosylation	RCV000336541	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs1321
Clinvar_Rec_1366	rs142815771	Uncertain significance	Congenital disorder of glycosylation	RCV000296703	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs142815771
Clinvar_Rec_1367	rs11703226	Benign	Microcephaly and chorioretinopathy, autosomal recessive, 1	RCV000599800	MedGen;OMIM	C3278481;251270	no assertion criteria provided	tagSNP	rs11703226
Clinvar_Rec_1368	rs5771270	Benign	Microcephaly and chorioretinopathy, autosomal recessive, 1	RCV000614038	MedGen;OMIM	C3278481;251270	no assertion criteria provided	tagSNP	rs5771270
Clinvar_Rec_1369	rs2782	Benign	Fatal Infantile Cardioencephalomyopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial complex IV deficiency;not provided;not specified	RCV000404245;RCV000269901;RCV000300513;RCV000676288;RCV000128016	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	CN239235;MedGen;603041;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12148
Clinvar_Rec_1370	rs2782	Benign	Fatal Infantile Cardioencephalomyopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial complex IV deficiency;not provided;not specified	RCV000374348;RCV000271220;RCV000338357;RCV000676291;RCV000128012	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	CN239235;MedGen;603041;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140523
Clinvar_Rec_1371	rs61748568	Conflicting interpretations of pathogenicity	Fatal Infantile Cardioencephalomyopathy;Mitochondrial complex IV deficiency;not provided;not specified	RCV000324221;RCV000264422;RCV000416073;RCV000128013	MedGen;OMIM;Orphanet;SNOMED CT	CN239235;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61748568
Clinvar_Rec_1372	rs891107196	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208667	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs891107196
Clinvar_Rec_1373	rs1064792886	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208656	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs1064792886
Clinvar_Rec_1374	rs749827433	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208698	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs749827433
Clinvar_Rec_1375	rs749827433	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208640	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs749827433
Clinvar_Rec_1376	rs560027665	Uncertain significance	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000294180	MedGen;OMIM	C4551995;603041	criteria provided, single submitter	tagSNP	rs560027665
Clinvar_Rec_1377	rs112742765	Uncertain significance	Congenital Muscular Dystrophy, CHKB-related	RCV000310326	MedGen	CN239234	criteria provided, single submitter	tagSNP	rs112742765
Clinvar_Rec_1378	rs537362532	Uncertain significance	Metachromatic leukodystrophy	RCV000376714	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs537362532
Clinvar_Rec_1379	rs886057656	Uncertain significance	Metachromatic leukodystrophy	RCV000327902	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs886057656
Clinvar_Rec_1380	rs398123418	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy;not provided	RCV000078952;RCV000723561	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123418
Clinvar_Rec_1381	rs1555910143	Pathogenic/Likely pathogenic	22q13.3 deletion syndrome;Autism spectrum disorder;SHANK3-Related Disorder;not provided	RCV000990465;RCV000754674;RCV000509224;RCV000413185	MedGen;OMIM;Orphanet;Orphanet	C1853490;606232;ORPHA48652;MedGen;ORPHA106;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555910143
Clinvar_Rec_1382	rs138936387	Uncertain significance	Bardet-Biedl syndrome	RCV000403897	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs138936387
Clinvar_Rec_1383	rs760693838	Pathogenic	Bardet-Biedl syndrome 10;Retinal dystrophy	RCV000670255;RCV001075500	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C1859568;615987;Human Phenotype Ontology;C0854723;ORPHA71862;314407005	criteria provided, multiple submitters, no conflicts	tagSNP	rs760693838
Clinvar_Rec_1384	rs1057516861	Likely pathogenic	Bardet-Biedl syndrome 10	RCV000410999	MedGen;OMIM	C1859568;615987	criteria provided, single submitter	tagSNP	rs1057516861
Clinvar_Rec_1385	rs1057516861	Likely pathogenic	Bardet-Biedl syndrome 10	RCV000409141	MedGen;OMIM	C1859568;615987	criteria provided, single submitter	tagSNP	rs1057516861
Clinvar_Rec_1386	rs7309458	Benign	Bardet-Biedl syndrome	RCV000325695	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	LD derived	rs3087711
Clinvar_Rec_1387	rs886048848	Uncertain significance	Mucolipidosis, Type III Alpha/Beta	RCV000341430	MedGen	CN239170	criteria provided, single submitter	tagSNP	rs886048848
Clinvar_Rec_1388	rs886048851	Uncertain significance	Mucolipidosis, Type III Alpha/Beta	RCV000404679	MedGen	CN239170	criteria provided, single submitter	tagSNP	rs886048851
Clinvar_Rec_1389	rs1429181351	Pathogenic/Likely pathogenic	Inborn genetic diseases;MUCOLIPIDOSIS III ALPHA/BETA	RCV000623566;RCV000853306	MeSH;MedGen	D030342;C0950123;na	criteria provided, multiple submitters, no conflicts	tagSNP	rs1429181351
Clinvar_Rec_1390	rs373662553	Uncertain significance	Pseudo-Hurler polydystrophy;not provided	RCV000665495;RCV000731944	MedGen;OMIM;Orphanet;SNOMED CT	C0033788;252600;ORPHA423461;65764006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373662553
Clinvar_Rec_1391	rs1555269734	Uncertain significance	Pseudo-Hurler polydystrophy	RCV000673862	MedGen;OMIM;Orphanet;SNOMED CT	C0033788;252600;ORPHA423461;65764006	criteria provided, single submitter	tagSNP	rs1555269734
Clinvar_Rec_1392	rs281864952	Pathogenic	Pseudo-Hurler polydystrophy	RCV000032315	MedGen;OMIM;Orphanet;SNOMED CT	C0033788;252600;ORPHA423461;65764006	no assertion criteria provided	tagSNP	rs281864952
Clinvar_Rec_1393	rs281865434	Likely pathogenic	Phenylketonuria	RCV000106338	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006	no assertion criteria provided	tagSNP	rs281865434
Clinvar_Rec_1394	rs1566067709	Conflicting interpretations of pathogenicity	Brachydactyly;Chondrodysplasia;OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS;Synpolydactyly 1;clino-symphalangism;overriding digits	RCV000678393;RCV000678393;RCV000714513;RCV000678393;RCV000678393;RCV000678393	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0221357;43476002;MedGen;618167;MedGen;186000;ORPHA93403;na;na	no assertion criteria provided	tagSNP	rs1566067709
Clinvar_Rec_1395	rs762261195	Uncertain significance	Immunodeficiency with Hyper-IgM	RCV000332287	MedGen	CN239447	criteria provided, single submitter	tagSNP	rs762261195
Clinvar_Rec_1396	rs11613021	Likely benign	Methylmalonic acidemia	RCV000301254	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs12817689
Clinvar_Rec_1397	rs11613021	Likely benign	Methylmalonic acidemia	RCV000297595	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs35145546
Clinvar_Rec_1398	rs11613021	Likely benign	Methylmalonic acidemia	RCV000348694	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs10623308
Clinvar_Rec_1399	rs11613021	Uncertain significance	Methylmalonic acidemia	RCV000293820	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs10623308
Clinvar_Rec_1400	rs11613021	Likely benign	Methylmalonic acidemia	RCV000387941	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs10623308
Clinvar_Rec_1401	rs11613021	Likely benign	Methylmalonic acidemia	RCV000276503	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	LD derived	rs34921355
Clinvar_Rec_1402	rs11613021	Benign/Likely benign	Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;not specified	RCV000286775;RCV000378359;RCV000117652	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0398691;260920;ORPHA343;234538002;MedGen;610377;ORPHA29;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2287218
Clinvar_Rec_1403	rs104895316	not provided	Hyperimmunoglobulin D with periodic fever	RCV000083878	MedGen;OMIM;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002	no assertion provided	tagSNP	rs104895316
Clinvar_Rec_1404	rs104895316	Likely pathogenic	Hyperimmunoglobulin D with periodic fever;Retinal dystrophy	RCV000083879;RCV001073278	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002;Human Phenotype Ontology;C0854723;ORPHA71862;314407005	criteria provided, single submitter	tagSNP	rs104895316
Clinvar_Rec_1405	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000406752;RCV000312905	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1045953
Clinvar_Rec_1406	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000334339;RCV000295700	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs5957380
Clinvar_Rec_1407	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000299603;RCV000408445	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs113549733
Clinvar_Rec_1408	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000385952;RCV000329055	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs10127182
Clinvar_Rec_1409	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000332910;RCV000275242	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs10127185
Clinvar_Rec_1410	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000389760;RCV000278927	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs12395643
Clinvar_Rec_1411	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000374811;RCV000336362	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs13441024
Clinvar_Rec_1412	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000338214;RCV000393071	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs5957381
Clinvar_Rec_1413	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000296632;RCV000398772	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs5957383
Clinvar_Rec_1414	rs1045953	Likely benign	Danon disease;Hypertrophic cardiomyopathy	RCV000366688;RCV000311869	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs8160
Clinvar_Rec_1415	rs1556213268	Uncertain significance	Syndromic X-linked mental retardation, Cabezas type	RCV000546039	Gene;MedGen;OMIM;Orphanet	114890;C1845861;300354;ORPHA85293	criteria provided, single submitter	tagSNP	rs1556213268
Clinvar_Rec_1416	rs1556024875	Likely pathogenic	Mental retardation, X-linked 12	RCV000664423	MedGen;OMIM;Orphanet	C0796218;300957;ORPHA457240	criteria provided, single submitter	tagSNP	rs1556024875
Clinvar_Rec_1417	rs1556404575	Pathogenic	Lymphoproliferative syndrome 2, X-linked	RCV000640870	MedGen;OMIM;Orphanet	C1845076;300635;ORPHA538934	criteria provided, single submitter	tagSNP	rs1556404575
Clinvar_Rec_1418	rs144884904	Likely benign	Lymphoproliferative syndrome 2, X-linked	RCV000640874	MedGen;OMIM;Orphanet	C1845076;300635;ORPHA538934	criteria provided, single submitter	tagSNP	rs144884904
Clinvar_Rec_1419	rs1556297529	Likely benign	Wilms tumor 1	RCV000525308	MedGen;OMIM	CN033288;194070	criteria provided, single submitter	tagSNP	rs1556297529
Clinvar_Rec_1420	rs1027587308	Uncertain significance	Wilms tumor 1	RCV000689061	MedGen;OMIM	CN033288;194070	criteria provided, single submitter	tagSNP	rs1027587308
Clinvar_Rec_1421	rs1404574866	Uncertain significance	Wilms tumor 1	RCV000529184	MedGen;OMIM	CN033288;194070	criteria provided, single submitter	tagSNP	rs1404574866
Clinvar_Rec_1422	rs200809171	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000273090	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs200809171
Clinvar_Rec_1423	rs864309636	Pathogenic	Multiple exostoses type 2	RCV000002575	MedGen;OMIM	C1851413;133701	criteria provided, single submitter	tagSNP	rs864309636
Clinvar_Rec_1424	rs113846849	Conflicting interpretations of pathogenicity	Hereditary Multiple Osteochondromatosis;Multiple exostoses type 2;not specified	RCV000279807;RCV001068751;RCV000120881	MedGen;OMIM	CN239374;MedGen;133701;MedGen	criteria provided, conflicting interpretations	LD derived	rs111589746
Clinvar_Rec_1425	rs7943306	Benign	Congenital disorder of glycosylation	RCV000314257	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs7943306
Clinvar_Rec_1426	rs879320611	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000298527	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs879320611
Clinvar_Rec_1427	rs16938413	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000328775	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs16938413
Clinvar_Rec_1428	rs76583617	Uncertain significance	atypical cerebral palsy	RCV000655962	MedGen	CN479605	criteria provided, single submitter	tagSNP	rs76583617
Clinvar_Rec_1429	rs4647760	Uncertain significance	Xeroderma pigmentosum	RCV000357057	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs4647760
Clinvar_Rec_1430	rs1265723882	Uncertain significance	Hypertrophic cardiomyopathy	RCV000560452	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1265723882
Clinvar_Rec_1431	rs201772169	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;not provided;not specified	RCV000771760;RCV000243432;RCV000361955;RCV000625027;RCV000228680;RCV000304992;RCV000857709;RCV000035371	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;115197;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11570076
Clinvar_Rec_1432	rs577529926	Uncertain significance	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	RCV000687777;RCV000687777	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225367;616326;MedGen;208150;ORPHA994;401138005	criteria provided, single submitter	LD derived	rs145197671
Clinvar_Rec_1433	rs534762091	Uncertain significance	Biotinidase deficiency	RCV000664856	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	LD derived	rs558477960
Clinvar_Rec_1434	rs780874850	Likely pathogenic	Biotinidase deficiency	RCV000721974	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	no assertion criteria provided	tagSNP	rs780874850
Clinvar_Rec_1435	rs28934601	Pathogenic	Biotinidase deficiency;not provided	RCV000001978;RCV000445043	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934601
Clinvar_Rec_1436	rs1190721481	Pathogenic	Biotinidase deficiency	RCV000715002	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	tagSNP	rs1190721481
Clinvar_Rec_1437	rs1004027979	Pathogenic	Biotinidase deficiency	RCV000715009	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	tagSNP	rs1004027979
Clinvar_Rec_1438	rs397514399	Pathogenic	Biotinidase deficiency	RCV000021981	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	no assertion criteria provided	tagSNP	rs397514399
Clinvar_Rec_1439	rs397514408	Conflicting interpretations of pathogenicity	Biotinidase deficiency	RCV000021994	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, conflicting interpretations	tagSNP	rs397514408
Clinvar_Rec_1440	rs397514410	Pathogenic	Biotinidase deficiency	RCV000021996	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	no assertion criteria provided	tagSNP	rs397514410
Clinvar_Rec_1441	rs397514427	Uncertain significance	Biotinidase deficiency	RCV000022022	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	tagSNP	rs397514427
Clinvar_Rec_1442	rs397514432	Pathogenic	Biotinidase deficiency	RCV000022027	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	no assertion criteria provided	tagSNP	rs397514432
Clinvar_Rec_1443	rs1050035768	Pathogenic	Biotinidase deficiency	RCV000715015	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	tagSNP	rs1050035768
Clinvar_Rec_1444	rs146136265	Pathogenic	Biotinidase deficiency;not provided	RCV000022028;RCV000078071	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146136265
Clinvar_Rec_1445	rs117876477	Uncertain significance	Biotinidase deficiency	RCV000290219	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	criteria provided, single submitter	LD derived	rs78601074
Clinvar_Rec_1446	rs2063481	Benign	Thyroid hormone resistance syndrome	RCV000367022	MedGen	CN118820	criteria provided, single submitter	LD derived	rs75272640
Clinvar_Rec_1447	rs2063481	Benign	Thyroid hormone resistance syndrome	RCV000293080	MedGen	CN118820	criteria provided, single submitter	LD derived	rs79270057
Clinvar_Rec_1448	rs826375	Benign	Thyroid hormone resistance syndrome	RCV000312360	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs826375
Clinvar_Rec_1449	rs121918702	Pathogenic	Thyroid hormone resistance, generalized	RCV000013389	-	-	no assertion criteria provided	tagSNP	rs121918702
Clinvar_Rec_1450	rs121918704	Likely pathogenic	Thyroid hormone resistance, generalized, autosomal dominant;Thyroid hormone resistance, generalized, autosomal recessive;not provided	RCV000852377;RCV000013392;RCV000986043	MedGen;OMIM;OMIM	C2937288;188570;MedGen;274300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918704
Clinvar_Rec_1451	rs1553609152	Pathogenic	Thyroid hormone resistance, generalized, autosomal dominant	RCV000584164	MedGen;OMIM	C2937288;188570	no assertion criteria provided	tagSNP	rs1553609152
Clinvar_Rec_1452	rs387906515	Pathogenic	Thyroid hormone resistance, generalized, autosomal recessive;not provided	RCV000013366;RCV000759364	MedGen;OMIM	C3489796;274300;MedGen	criteria provided, single submitter	tagSNP	rs387906515
Clinvar_Rec_1453	rs121918709	Pathogenic	Thyroid hormone resistance, selective pituitary	RCV000013397	MedGen;OMIM;Orphanet	C1840364;145650;ORPHA165994	no assertion criteria provided	tagSNP	rs121918709
Clinvar_Rec_1454	rs1553611038	Pathogenic	Thyroid hormone resistance, generalized, autosomal dominant	RCV000582153	MedGen;OMIM	C2937288;188570	no assertion criteria provided	tagSNP	rs1553611038
Clinvar_Rec_1455	rs200246388	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000252739;RCV000264796;RCV000771273;RCV000520803	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200246388
Clinvar_Rec_1456	rs886038228	Likely benign	Connective tissue disease;not provided;not specified	RCV000659411;RCV000915230;RCV000246001	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886038228
Clinvar_Rec_1457	rs371934572	Benign/Likely benign	Ehlers-Danlos syndrome, type 4;not specified	RCV000396576;RCV000181048	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371934572
Clinvar_Rec_1458	rs794728044	Likely pathogenic	Ehlers-Danlos syndrome, type 4	RCV000533423	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs794728044
Clinvar_Rec_1459	rs794728044	Uncertain significance	Cardiovascular phenotype	RCV000252353	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs794728044
Clinvar_Rec_1460	rs1057524653	Likely pathogenic	Ehlers-Danlos syndrome, type 4	RCV000546683	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs1057524653
Clinvar_Rec_1461	rs397509376	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000018762	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs397509376
Clinvar_Rec_1462	rs397509376	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087724	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs397509376
Clinvar_Rec_1463	rs730880063	Uncertain significance	Arterial dissection;Ehlers-Danlos syndrome, type 4;not provided	RCV000157143;RCV001048087;RCV000788420	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002949;MedGen;130050;ORPHA286;17025000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730880063
Clinvar_Rec_1464	rs794728037	Likely benign	Thoracic aortic aneurysm and aortic dissection	RCV000181057	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs794728037
Clinvar_Rec_1465	rs1801184	Benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000247681;RCV000292059;RCV000775986;RCV000124411	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801184
Clinvar_Rec_1466	rs587779513	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087450	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779513
Clinvar_Rec_1467	rs587779469	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087399	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779469
Clinvar_Rec_1468	rs587779501	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087435	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779501
Clinvar_Rec_1469	rs1553509744	Likely pathogenic	Ehlers-Danlos syndrome, type 4	RCV000556139	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs1553509744
Clinvar_Rec_1470	rs200345331	Benign	Hemochromatosis type 4	RCV000641711	MedGen;OMIM;Orphanet	C1853733;606069;ORPHA139491	criteria provided, single submitter	tagSNP	rs200345331
Clinvar_Rec_1471	rs1559010409	Uncertain significance	Hemochromatosis type 4	RCV000778580	MedGen;OMIM;Orphanet	C1853733;606069;ORPHA139491	criteria provided, single submitter	tagSNP	rs1559010409
Clinvar_Rec_1472	rs368420430	Pathogenic	Hemochromatosis type 4	RCV000190909	MedGen;OMIM;Orphanet	C1853733;606069;ORPHA139491	no assertion criteria provided	tagSNP	rs368420430
Clinvar_Rec_1473	rs745440258	Uncertain significance	Lynch syndrome	RCV000369982	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs745440258
Clinvar_Rec_1474	rs16833147	Benign/Likely benign	Familial Atypical Mycobacteriosis, Autosomal Dominant;not provided	RCV000327955;RCV000882572	MedGen	CN239224;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs16833147
Clinvar_Rec_1475	rs587777628	Pathogenic	Immunodeficiency 31C	RCV000133513	MedGen;OMIM;Orphanet	C3279990;614162;ORPHA391487	no assertion criteria provided	tagSNP	rs587777628
Clinvar_Rec_1476	rs387906420	Pathogenic	Epilepsy, mitochondrial;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010189;RCV000850644	MedGen;OMIM;Orphanet;SNOMED CT	C4016624;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs387906420
Clinvar_Rec_1477	rs387906420	Pathogenic	Epilepsy, mitochondrial	RCV000010190	MedGen	C4016624	no assertion criteria provided	tagSNP	rs387906420
Clinvar_Rec_1478	rs267606617	drug response	Aminoglycoside-induced deafness;Aminoglycoside-induced deafness;Deafness, nonsyndromic sensorineural, mitochondrial;Deafness, nonsyndromic sensorineural, mitochondrial;Gentamicin response;Rare genetic deafness;Restrictive cardiomyopathy;amikacin response - Toxicity/ADR;aminoglycoside antibacterials response - Toxicity/ADR;gentamicin response - Toxicity/ADR;kanamycin response - Toxicity/ADR;neomycin response - Toxicity/ADR;not provided;streptomycin response - Toxicity/ADR;tobramycin response - Toxicity/ADR	RCV000010254;RCV000505667;RCV000010255;RCV000505667;RCV000722074;RCV000844677;RCV000010256;RCV000660801;RCV000211153;RCV000660802;RCV000660803;RCV000660804;RCV000224935;RCV000660805;RCV000660806	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;MeSH;MedGen;Orphanet	C1838854;580000;ORPHA168609;MedGen;580000;ORPHA168609;MedGen;500008;ORPHA90641;MedGen;500008;ORPHA90641;MedGen;ORPHA96210;Human Phenotype Ontology;D002313;C0007196;ORPHA217632;na;MedGen	reviewed by expert panel	tagSNP	rs267606617
Clinvar_Rec_1479	rs1057516055	Uncertain significance	Developmental delay;Epilepsy;Hyperlactaemia;Muscular hypotonia of the trunk	RCV000408936;RCV000408936;RCV000408936;RCV000408936	MedGen;MedGen;Orphanet;MedGen	C0424605;MeSH;C0014544;ORPHA166463;MedGen;C1853743	no assertion criteria provided	tagSNP	rs1057516055
Clinvar_Rec_1480	rs199474824	Pathogenic	Chloramphenicol resistance	RCV000010253	MedGen	CN043118	no assertion criteria provided	tagSNP	rs199474824
Clinvar_Rec_1481	rs199474660	Pathogenic	Cardiomyopathy with or without skeletal myopathy;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010215;RCV000850713	MedGen;OMIM;Orphanet;SNOMED CT	C4016615;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs199474660
Clinvar_Rec_1482	rs121434468	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Multisystem disorder	RCV000850716;RCV000010227	MedGen;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen	criteria provided, single submitter	tagSNP	rs121434468
Clinvar_Rec_1483	rs121434465	Benign	Cardiomyopathy, fatal infantile;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010224;RCV000850729	MedGen;OMIM;Orphanet;SNOMED CT	C4016612;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs121434465
Clinvar_Rec_1484	rs28357980	Benign	Leber's optic atrophy;Leigh syndrome	RCV000010364;RCV000853834	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	HP;C0917796;535000;ORPHA104;58610003;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs28357980
Clinvar_Rec_1485	rs199476116	Pathogenic	Mitochondrial complex I deficiency	RCV000010367	MedGen	C2936907	no assertion criteria provided	tagSNP	rs199476116
Clinvar_Rec_1486	rs587776435	Pathogenic	Leigh syndrome	RCV000144001	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	no assertion criteria provided	tagSNP	rs587776435
Clinvar_Rec_1487	rs118203894	Benign	Focal segmental glomerulosclerosis and dilated cardiomyopathy;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	RCV000010162;RCV000850873	MedGen;OMIM;Orphanet;SNOMED CT	C4016633;MedGen;540000;ORPHA550;39925003	criteria provided, single submitter	tagSNP	rs118203894
Clinvar_Rec_1488	rs199476128	Benign	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000853974;RCV000010304	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs199476128
Clinvar_Rec_1489	rs199474818	Pathogenic	Deafness, nonsyndromic sensorineural, mitochondrial	RCV000778058	MedGen;OMIM;Orphanet	C3151897;500008;ORPHA90641	no assertion criteria provided	tagSNP	rs199474818
Clinvar_Rec_1490	rs199474818	Pathogenic	Deafness, nonsyndromic sensorineural, mitochondrial;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Palmoplantar keratoderma-deafness syndrome	RCV000010177;RCV000850885;RCV000010176	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C3151897;500008;ORPHA90641;MedGen;540000;ORPHA550;39925003;MedGen;148350;ORPHA2202	criteria provided, single submitter	tagSNP	rs199474818
Clinvar_Rec_1491	rs199474818	Pathogenic	Deafness, nonsyndromic sensorineural, mitochondrial	RCV000010181	MedGen;OMIM;Orphanet	C3151897;500008;ORPHA90641	no assertion criteria provided	tagSNP	rs199474818
Clinvar_Rec_1492	rs118192098	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome;Mitochondrial diseases;Parkinson disease, mitochondrial;not provided	RCV000850950;RCV000010193;RCV000495310;RCV000010194;RCV000224965	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;OMIM	C0162671;540000;ORPHA550;39925003;MedGen;256000;ORPHA506;29570005;MedGen;ORPHA68380;MedGen;556500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118192098
Clinvar_Rec_1493	rs878852987	Uncertain significance	Leigh syndrome;not provided	RCV000854224;RCV000224948	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878852987
Clinvar_Rec_1494	rs1556423574	Benign	Bicuspid aortic valve;Leigh syndrome	RCV000766134;RCV000854374	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	HP;C0149630;ORPHA402075;72352009;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs1556423574
Clinvar_Rec_1495	rs1569484299	Pathogenic	Tetralogy of Fallot	RCV000782121	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0039685;187500;ORPHA3303;86299006	no assertion criteria provided	tagSNP	rs1569484299
Clinvar_Rec_1496	rs200809063	Benign/Likely benign	Leigh syndrome;not provided	RCV000854608;RCV000424414	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200809063
Clinvar_Rec_1497	rs1556423757	Benign	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;not provided	RCV000850977;RCV000509360	MedGen;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen	criteria provided, single submitter	tagSNP	rs1556423757
Clinvar_Rec_1498	rs193302928	Benign/Likely benign	Leigh syndrome;not provided	RCV000854636;RCV000224675	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs193302928
Clinvar_Rec_1499	rs1556423844	Pathogenic	Leber's optic atrophy	RCV000010353	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0917796;535000;ORPHA104;58610003	criteria provided, single submitter	tagSNP	rs1556423844
Clinvar_Rec_1500	rs199476113	Benign	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Leigh syndrome	RCV000010355;RCV000854703	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs199476113
Clinvar_Rec_1501	rs200873900	Benign	Leber optic atrophy and dystonia;Leber's optic atrophy;Leigh syndrome	RCV000010356;RCV000055697;RCV000854742	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1839040;500001;Human Phenotype Ontology;C0917796;535000;ORPHA104;58610003;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs200873900
Clinvar_Rec_1502	rs376606918	Conflicting interpretations of pathogenicity	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;not provided	RCV000851017;RCV000426740	MedGen;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376606918
Clinvar_Rec_1503	rs201863060	Benign	Leber's optic atrophy;Leigh syndrome	RCV000022893;RCV000854787	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	HP;C0917796;535000;ORPHA104;58610003;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs201863060
Clinvar_Rec_1504	rs876661356	Benign	Leigh syndrome;not specified	RCV000854830;RCV000223843	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs876661356
Clinvar_Rec_1505	rs587776440	Pathogenic	Leigh syndrome	RCV000144017	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs587776440
Clinvar_Rec_1506	rs55882959	Conflicting interpretations of pathogenicity	Leigh syndrome;not provided	RCV000854944;RCV000756359	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs55882959
Clinvar_Rec_1507	rs200855215	Benign	Leber's optic atrophy;Leigh syndrome	RCV000055699;RCV000854959	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	HP;C0917796;535000;ORPHA104;58610003;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs200855215
Clinvar_Rec_1508	rs386829198	Benign/Likely benign	Leigh syndrome;not provided	RCV000855027;RCV000514858	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs386829198
Clinvar_Rec_1509	rs1556424448	Uncertain significance	Abnormality of brain morphology;Cognitive impairment;Constriction of peripheral visual field;Headache;Muscle cramps;Paresthesia;Vertigo	RCV000626560;RCV000626560;RCV000626560;RCV000626560;RCV000626560;RCV000626560;RCV000626560	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C4021085;Human Phenotype Ontology;C0338656;Human Phenotype Ontology;C0235095;Human Phenotype Ontology;C0018681;Human Phenotype Ontology;C0037763;Human Phenotype Ontology;C0030554;Human Phenotype Ontology;C0042571	criteria provided, single submitter	tagSNP	rs1556424448
Clinvar_Rec_1510	rs527236161	Likely pathogenic	Neoplasm of ovary	RCV000133403	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0919267;167000;123843001	no assertion criteria provided	tagSNP	rs527236161
Clinvar_Rec_1511	rs193302980	Benign	Familial cancer of breast;Leigh syndrome	RCV000128802;RCV000855150	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs193302980
Clinvar_Rec_1512	rs386419981	Likely pathogenic	Familial cancer of breast	RCV000133407	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs386419981
Clinvar_Rec_1513	rs527236207	Likely pathogenic	Neoplasm of ovary	RCV000133454	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0919267;167000;123843001	no assertion criteria provided	tagSNP	rs527236207
Clinvar_Rec_1514	rs527236182	Likely pathogenic	Neoplasm of ovary	RCV000133426	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0919267;167000;123843001	no assertion criteria provided	tagSNP	rs527236182
Clinvar_Rec_1515	rs1569484723	Conflicting interpretations of pathogenicity	Leigh syndrome;not provided	RCV000855302;RCV000756355	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1569484723
Clinvar_Rec_1516	rs207460002	Likely pathogenic	Mitochondrial myopathy, infantile, transient;Multisystem disorder	RCV000855325;RCV000010321	MedGen;OMIM;Orphanet	C3151898;500009;ORPHA254864;MedGen	criteria provided, single submitter	tagSNP	rs207460002
Clinvar_Rec_1517	rs193302996	Likely pathogenic	Neoplasm of ovary	RCV000133457	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0919267;167000;123843001	no assertion criteria provided	tagSNP	rs193302996
Clinvar_Rec_1518	rs199474701	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;MERFF syndrome	RCV000851158;RCV000010185	MedGen;OMIM;Orphanet;SNOMED CT	C0162671;540000;ORPHA550;39925003;MedGen	criteria provided, single submitter	tagSNP	rs199474701
Clinvar_Rec_1519	rs886052631	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000261054	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs886052631
Clinvar_Rec_1520	rs73981417	Likely benign	Mitochondrial complex III deficiency, nuclear type 1	RCV000315175	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	LD derived	rs73981413
Clinvar_Rec_1521	rs73981417	Likely benign	Mitochondrial complex III deficiency, nuclear type 1	RCV000316310	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	LD derived	rs11554356
Clinvar_Rec_1522	rs73981417	Likely benign	Mitochondrial complex III deficiency, nuclear type 1	RCV000377059	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	LD derived	rs73981414
Clinvar_Rec_1523	rs886052643	Uncertain significance	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome	RCV000401963	MedGen	CN239148	criteria provided, single submitter	tagSNP	rs886052643
Clinvar_Rec_1524	rs886052644	Uncertain significance	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome	RCV000305171	MedGen	CN239148	criteria provided, single submitter	tagSNP	rs886052644
Clinvar_Rec_1525	rs199572622	Likely benign	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000303567;RCV000358326	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs199572622
Clinvar_Rec_1526	rs117436649	Uncertain significance	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000286267;RCV000341273	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs117436649
Clinvar_Rec_1527	rs750896108	Uncertain significance	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000298301;RCV000353246	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs750896108
Clinvar_Rec_1528	rs145430714	Likely benign	Multiple fibrofolliculomas;Spontaneous pneumothorax	RCV000309138;RCV000363873	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781	criteria provided, single submitter	tagSNP	rs145430714
Clinvar_Rec_1529	rs760329266	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas	RCV000163471;RCV000231877	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001	criteria provided, multiple submitters, no conflicts	tagSNP	rs760329266
Clinvar_Rec_1530	rs879255662	Pathogenic	Multiple fibrofolliculomas	RCV000239628	MedGen;OMIM;Orphanet;SNOMED CT	C0346010;135150;ORPHA122;110985001	criteria provided, single submitter	tagSNP	rs879255662
Clinvar_Rec_1531	rs150175875	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001026317;RCV000541375	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150175875
Clinvar_Rec_1532	rs150175875	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000492518;RCV000229035	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150175875
Clinvar_Rec_1533	rs1555609813	Uncertain significance	Multiple fibrofolliculomas	RCV000526590	MedGen;OMIM;Orphanet;SNOMED CT	C0346010;135150;ORPHA122;110985001	criteria provided, single submitter	tagSNP	rs1555609813
Clinvar_Rec_1534	rs876660119	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas	RCV000220909;RCV000559720	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660119
Clinvar_Rec_1535	rs141039036	Likely benign	History of neurodevelopmental disorder	RCV000718234	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs141039036
Clinvar_Rec_1536	rs745515458	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717929;RCV000712896	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745515458
Clinvar_Rec_1537	rs572421943	Likely benign	History of neurodevelopmental disorder	RCV000719021	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs572421943
Clinvar_Rec_1538	rs1288928564	Pathogenic	MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2	RCV000678245	MedGen;OMIM;Orphanet	C4748176;618097;ORPHA508512	no assertion criteria provided	tagSNP	rs1288928564
Clinvar_Rec_1539	rs782774927	Uncertain significance	Congenital defect of folate absorption	RCV000371910	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs782774927
Clinvar_Rec_1540	rs41297909	Uncertain significance	Congenital defect of folate absorption	RCV000358501	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs41297909
Clinvar_Rec_1541	rs782533706	Uncertain significance	Congenital defect of folate absorption	RCV000327318	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs782533706
Clinvar_Rec_1542	rs41297121	Uncertain significance	Congenital defect of folate absorption	RCV000341920	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs41297121
Clinvar_Rec_1543	rs886052755	Uncertain significance	Congenital defect of folate absorption	RCV000272627	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs886052755
Clinvar_Rec_1544	rs886052756	Uncertain significance	Congenital defect of folate absorption	RCV000363776	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs886052756
Clinvar_Rec_1545	rs189103810	Uncertain significance	Congenital defect of folate absorption	RCV000385629	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs189103810
Clinvar_Rec_1546	rs782796764	Uncertain significance	Congenital defect of folate absorption	RCV000335494	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs782796764
Clinvar_Rec_1547	rs886052772	Uncertain significance	Nephronophthisis	RCV000357635	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008	criteria provided, single submitter	tagSNP	rs886052772
Clinvar_Rec_1548	rs74441216	Uncertain significance	Congenital defect of folate absorption;not specified	RCV000333408;RCV000238917	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201837257
Clinvar_Rec_1549	rs146112698	Benign/Likely benign	Cataract, congenital zonular, with sutural opacities;not provided;not specified	RCV000059343;RCV000871799;RCV000245606	MedGen;OMIM	C1833229;600881;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs117757092
Clinvar_Rec_1550	rs56214919	Likely pathogenic	Friedreich's ataxia	RCV000004191	MedGen;Orphanet;SNOMED CT	C0016719;ORPHA95;10394003	no assertion criteria provided	tagSNP	rs56214919
Clinvar_Rec_1551	rs886041948	Pathogenic	Progressive familial intrahepatic cholestasis 4;not provided	RCV000984952;RCV000339498	MedGen;OMIM;Orphanet	C2931067;615878;ORPHA480483;MedGen	criteria provided, single submitter	tagSNP	rs886041948
Clinvar_Rec_1552	rs1057515612	Uncertain significance	Nonsyndromic Hearing Loss, Dominant	RCV000273928	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs1057515612
Clinvar_Rec_1553	rs2095876	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not specified	RCV000315400;RCV000037082	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2095876
Clinvar_Rec_1554	rs3812536	Likely benign	Nonsyndromic Hearing Loss, Dominant	RCV000292668	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs3812536
Clinvar_Rec_1555	rs115237925	Benign	Cutis Laxa, Dominant/Recessive;Macular degeneration	RCV000395898;RCV000299436	MedGen;MedGen;SNOMED CT	CN239277;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs115237925
Clinvar_Rec_1556	rs115237925	Benign	Cutis Laxa, Dominant/Recessive;Macular degeneration	RCV000273686;RCV000368274	MedGen;MedGen;SNOMED CT	CN239277;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	LD derived	rs79375113
Clinvar_Rec_1557	rs780625551	Likely pathogenic	Goldblatt hypertension;Osteochondrodysplasia	RCV000853510;RCV000757984	MedGen;OMIM;Orphanet;SNOMED CT	C2745953;184260;ORPHA166272;123800009;MedGen	criteria provided, single submitter	tagSNP	rs780625551
Clinvar_Rec_1558	rs144780536	Conflicting interpretations of pathogenicity	Achondrogenesis;not provided;not specified	RCV000327383;RCV000756810;RCV000597547	MedGen;Orphanet	C0001079;ORPHA932;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144780536
Clinvar_Rec_1559	rs200739251	Conflicting interpretations of pathogenicity	Achondrogenesis;not provided	RCV000312673;RCV000981666	MedGen;Orphanet	C0001079;ORPHA932;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200739251
Clinvar_Rec_1560	rs745959376	Uncertain significance	Achondrogenesis;Achondrogenesis, type IA	RCV000279246;RCV000793388	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0001079;ORPHA932;MedGen;200600;ORPHA93299;42725006	criteria provided, multiple submitters, no conflicts	tagSNP	rs745959376
Clinvar_Rec_1561	rs886050910	Uncertain significance	Achondrogenesis	RCV000350626	MedGen;Orphanet	C0001079;ORPHA932	criteria provided, single submitter	tagSNP	rs886050910
Clinvar_Rec_1562	rs6647	Benign/Likely benign	Alpha-1-antitrypsin deficiency;PI M1-ALA213;PI, M1A;not specified	RCV000406073;RCV000019553;RCV000019554;RCV000151834	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007;na;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6647
Clinvar_Rec_1563	rs6647	Benign	PI M1-ALA213;PI, M1V	RCV000019555;RCV000019556			no assertion criteria provided	tagSNP	rs6647
Clinvar_Rec_1564	rs1555368976	no interpretation for the single variant	Alpha-1-antitrypsin deficiency	RCV000508742	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	no interpretation for the single variant	tagSNP	rs1555368976
Clinvar_Rec_1565	rs864622051	Likely benign	Alpha-1-antitrypsin deficiency	RCV000508737	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, single submitter	tagSNP	rs864622051
Clinvar_Rec_1566	rs864622051	Pathogenic/Likely pathogenic	Alpha-1-antitrypsin deficiency	RCV000204423	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622051
Clinvar_Rec_1567	rs1555366964	Likely benign	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000556941	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1555366964
Clinvar_Rec_1568	rs757430396	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000564597;RCV000466590;RCV000603035	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757430396
Clinvar_Rec_1569	rs778780063	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000706444;RCV000570749	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs778780063
Clinvar_Rec_1570	rs760439905	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000547598;RCV000575142	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs760439905
Clinvar_Rec_1571	rs1274381410	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000537552;RCV001023309	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1274381410
Clinvar_Rec_1572	rs1131691200	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000494196	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131691200
Clinvar_Rec_1573	rs587778231	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;Hereditary cancer-predisposing syndrome;Rhabdomyosarcoma, embryonal, 2;not specified	RCV000232310;RCV000765191;RCV000765191;RCV000571868;RCV000765191;RCV000120642	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM	CN072455;601200;MedGen;601200;MedGen;138800;MedGen;ORPHA140162;699346009;MedGen;180295;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778231
Clinvar_Rec_1574	rs1566754081	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000706254	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1566754081
Clinvar_Rec_1575	rs567951773	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000467108;RCV000571126	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs549532374
Clinvar_Rec_1576	rs1257498722	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000545218	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1257498722
Clinvar_Rec_1577	rs875989779	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Pineoblastoma	RCV000240939;RCV000211120	MedGen;OMIM;MedGen;Orphanet	CN072455;601200;Human Phenotype Ontology;C0205898;ORPHA251909	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989779
Clinvar_Rec_1578	rs899603485	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001022890;RCV000471151	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs899603485
Clinvar_Rec_1579	rs748924713	Likely benign	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000550069;RCV001022870	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs748924713
Clinvar_Rec_1580	rs1555367730	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000565113;RCV000934637	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555367730
Clinvar_Rec_1581	rs886037712	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000240895;RCV000493485;RCV000851471	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886037712
Clinvar_Rec_1582	rs1060504980	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001022269;RCV000463025	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504980
Clinvar_Rec_1583	rs1555367924	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000800950;RCV000574723	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555367924
Clinvar_Rec_1584	rs1060503664	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000469100	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1060503664
Clinvar_Rec_1585	rs1250570322	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000557954;RCV000573313	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1250570322
Clinvar_Rec_1586	rs1467554488	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000542831;RCV000569409	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1467554488
Clinvar_Rec_1587	rs1183908844	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000699111	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1183908844
Clinvar_Rec_1588	rs368610812	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000693400	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs368610812
Clinvar_Rec_1589	rs1060503654	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000459002;RCV001021163	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503654
Clinvar_Rec_1590	rs765677895	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000566773;RCV000473550	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765677895
Clinvar_Rec_1591	rs750457254	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000533075;RCV001020869	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs750457254
Clinvar_Rec_1592	rs1555369546	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569208	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555369546
Clinvar_Rec_1593	rs886037705	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000240911	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs886037705
Clinvar_Rec_1594	rs1288723916	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;Rhabdomyosarcoma, embryonal, 2	RCV000690265;RCV000765196;RCV000765196;RCV000765196	MedGen;OMIM;OMIM;OMIM;OMIM	CN072455;601200;MedGen;601200;MedGen;138800;MedGen;180295	criteria provided, multiple submitters, no conflicts	tagSNP	rs1288723916
Clinvar_Rec_1595	rs1160985143	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV001050173;RCV000563568	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1160985143
Clinvar_Rec_1596	rs774583162	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000228406;RCV000565593	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs774583162
Clinvar_Rec_1597	rs1060503607	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000468990	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1060503607
Clinvar_Rec_1598	rs1304695583	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000557215	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1304695583
Clinvar_Rec_1599	rs750104632	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000456808;RCV000572785	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs750104632
Clinvar_Rec_1600	rs1566769521	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000696513	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1566769521
Clinvar_Rec_1601	rs886037699	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000240906;RCV000493882	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs886037699
Clinvar_Rec_1602	rs1555369761	Likely benign	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000528162	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1555369761
Clinvar_Rec_1603	rs1555371628	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000540972;RCV000570251	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555371628
Clinvar_Rec_1604	rs1566801690	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000689168	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1566801690
Clinvar_Rec_1605	rs1555374639	Likely benign	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000654534	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1555374639
Clinvar_Rec_1606	rs111595160	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000565863;RCV000851435	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111595160
Clinvar_Rec_1607	rs1566802127	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000692244;RCV001010462	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566802127
Clinvar_Rec_1608	rs1555374734	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000528753	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1555374734
Clinvar_Rec_1609	rs1555374745	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000525847	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1555374745
Clinvar_Rec_1610	rs1566802978	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000695217;RCV001017105	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566802978
Clinvar_Rec_1611	rs1060503602	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000471033;RCV000573917	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503602
Clinvar_Rec_1612	rs1555374794	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000571192;RCV000952045	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555374794
Clinvar_Rec_1613	rs886050944	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Pulmonary blastoma	RCV001018931;RCV000373452	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C1266144;ORPHA64741	criteria provided, conflicting interpretations	tagSNP	rs886050944
Clinvar_Rec_1614	rs781144010	Pathogenic	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000526362	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs781144010
Clinvar_Rec_1615	rs886050947	Uncertain significance	Pulmonary blastoma	RCV000315507	Human Phenotype Ontology;MedGen;Orphanet	HP;C1266144;ORPHA64741	criteria provided, single submitter	tagSNP	rs886050947
Clinvar_Rec_1616	rs569026666	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Neuroblastoma	RCV000692821;RCV000761029	MedGen;OMIM;MeSH;MedGen;OMIM;Orphanet	CN072455;601200;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635	criteria provided, single submitter	LD derived	rs534996867
Clinvar_Rec_1617	rs779282547	Pathogenic	Pontocerebellar hypoplasia type 1A	RCV000535493	Gene;MedGen;OMIM	100852400;CN032785;607596	criteria provided, single submitter	tagSNP	rs779282547
Clinvar_Rec_1618	rs541660707	Uncertain significance	Pontocerebellar hypoplasia type 1;Pontoneocerebellar hypoplasia;not provided	RCV000823345;RCV000358150;RCV000289205	MedGen;Orphanet;SNOMED CT	C1843504;ORPHA2254;MedGen;373666002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs541660707
Clinvar_Rec_1619	rs139734064	Uncertain significance	Pontocerebellar hypoplasia type 1;not provided	RCV000553451;RCV000518980	MedGen;Orphanet	C1843504;ORPHA2254;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139734064
Clinvar_Rec_1620	rs1555370868	Uncertain significance	Inborn genetic diseases	RCV000623107	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555370868
Clinvar_Rec_1621	rs143421325	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719791;RCV000711534;RCV000236967	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143421325
Clinvar_Rec_1622	rs1566996726	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O;Mental retardation, autosomal dominant 13;Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	RCV000768202;RCV000768202;RCV000768202	MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet	C3280220;614228;ORPHA284232;MedGen;614563;MedGen;158600;ORPHA209341	criteria provided, single submitter	tagSNP	rs1566996726
Clinvar_Rec_1623	rs387906738	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, axonal, type 2O;Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant	RCV000192255;RCV000022929;RCV000055662	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;614228;ORPHA284232;MedGen;158600;ORPHA209341	no assertion criteria provided	tagSNP	rs387906738
Clinvar_Rec_1624	rs149902566	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified	RCV000392853;RCV000719825;RCV000349257;RCV000294357;RCV000649643;RCV000601948	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149902566
Clinvar_Rec_1625	rs766521055	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000695194	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs766521055
Clinvar_Rec_1626	rs115992196	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified	RCV000407943;RCV000717773;RCV000299756;RCV000334726;RCV000227946;RCV000429380	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115992196
Clinvar_Rec_1627	rs1013209915	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000649562	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs1013209915
Clinvar_Rec_1628	rs119478058	Pathogenic	Megaloblastic anemia 1, Norwegian type	RCV000005036	MedGen	C4016948	no assertion criteria provided	tagSNP	rs119478058
Clinvar_Rec_1629	rs377145979	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis 5	RCV000649967;RCV000649967	MedGen;OMIM;Orphanet;OMIM	C3280845;614455;ORPHA93114;MedGen;613237	criteria provided, single submitter	tagSNP	rs377145979
Clinvar_Rec_1630	rs748234626	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis 5	RCV000649966;RCV000649966	MedGen;OMIM;Orphanet;OMIM	C3280845;614455;ORPHA93114;MedGen;613237	criteria provided, single submitter	tagSNP	rs748234626
Clinvar_Rec_1631	rs371946522	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis 5	RCV000691532;RCV000691532	MedGen;OMIM;Orphanet;OMIM	C3280845;614455;ORPHA93114;MedGen;613237	criteria provided, single submitter	tagSNP	rs371946522
Clinvar_Rec_1632	rs111978619	Likely benign	Focal segmental glomerulosclerosis	RCV000340490	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs111978619
Clinvar_Rec_1633	rs1555383496	Likely benign	Cowden syndrome 6	RCV000551046	MedGen;OMIM	C3554519;615109	criteria provided, single submitter	tagSNP	rs1555383496
Clinvar_Rec_1634	rs1566818099	Uncertain significance	Cowden syndrome 6	RCV000709351	MedGen;OMIM	C3554519;615109	criteria provided, single submitter	tagSNP	rs1566818099
Clinvar_Rec_1635	rs563587714	Likely benign	Focal segmental glomerulosclerosis	RCV000389255	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	LD derived	rs200155666
Clinvar_Rec_1636	rs375761301	Uncertain significance	Cowden syndrome 6	RCV000228128	MedGen;OMIM	C3554519;615109	criteria provided, single submitter	LD derived	rs370490407
Clinvar_Rec_1637	rs202246282	Benign	Abnormality of neuronal migration	RCV000201358	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs202246282
Clinvar_Rec_1638	rs4664455	Benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000266979;RCV000590547;RCV000081126	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7575451
Clinvar_Rec_1639	rs4994327	Benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000266979;RCV000590547;RCV000081126	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7575451
Clinvar_Rec_1640	rs886054950	Uncertain significance	Episodic ataxia;Juvenile myoclonic epilepsy	RCV000327295;RCV000381840	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C1720189;ORPHA211062;MedGen;254770;ORPHA307	criteria provided, single submitter	tagSNP	rs886054950
Clinvar_Rec_1641	rs747113198	Uncertain significance	Parkinson Disease, Dominant/Recessive	RCV000350620	MedGen	CN239308	criteria provided, single submitter	tagSNP	rs747113198
Clinvar_Rec_1642	rs886054977	Uncertain significance	Parkinson Disease, Dominant/Recessive	RCV000287586	MedGen	CN239308	criteria provided, single submitter	tagSNP	rs886054977
Clinvar_Rec_1643	rs74162074	Uncertain significance	Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;not provided	RCV000652098;RCV000652098;RCV000997249	MedGen;OMIM;OMIM	C3888244;615846;MedGen;182250;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs74162074
Clinvar_Rec_1644	rs145540533	Conflicting interpretations of pathogenicity	Coenzyme Q10 deficiency, primary;not specified	RCV000403735;RCV000436325	MedGen;Orphanet	CN229570;ORPHA35656;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145540533
Clinvar_Rec_1645	rs530379878	Likely benign	Polycystic liver disease 1	RCV000303290	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	LD derived	rs549810875
Clinvar_Rec_1646	rs2818200	Benign	Polycystic liver disease 1	RCV000366222	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	LD derived	rs672444
Clinvar_Rec_1647	rs1554227574	Uncertain significance	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	RCV000649286	MedGen;OMIM	C3279748;614069	criteria provided, single submitter	tagSNP	rs1554227574
Clinvar_Rec_1648	rs139491074	Uncertain significance	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	RCV000649285	MedGen;OMIM	C3279748;614069	criteria provided, single submitter	tagSNP	rs139491074
Clinvar_Rec_1649	rs779741867	Uncertain significance	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	RCV000696649	MedGen;OMIM	C3279748;614069	criteria provided, single submitter	tagSNP	rs779741867
Clinvar_Rec_1650	rs1562159088	Pathogenic	Epileptic encephalopathy;Intellectual disability;NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES	RCV001003962;RCV000681443;RCV000984537	Human Phenotype Ontology;MedGen;MedGen;OMIM	HP;C0543888;Human Phenotype Ontology;C1843367;MedGen;618707	no assertion criteria provided	tagSNP	rs1562159088
Clinvar_Rec_1651	rs148811960	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not specified	RCV000769184;RCV000620003;RCV000154731	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148811960
Clinvar_Rec_1652	rs572035776	Uncertain significance	Familial hypertrophic cardiomyopathy 1	RCV000584772	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	tagSNP	rs572035776
Clinvar_Rec_1653	rs1554228151	Uncertain significance	Inborn genetic diseases	RCV000622470	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554228151
Clinvar_Rec_1654	rs28763979	Likely benign	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000264598;RCV000359256	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs28763979
Clinvar_Rec_1655	rs201813523	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000262594;RCV000375860;RCV000316584;RCV000483087	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201813523
Clinvar_Rec_1656	rs34704611	Benign/Likely benign	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000403501;RCV000336851;RCV000279226;RCV000871714	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35756610
Clinvar_Rec_1657	rs61760166	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000307135;RCV000364264;RCV000397087;RCV000513602	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61760166
Clinvar_Rec_1658	rs374791168	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000260366;RCV000317802;RCV000374778;RCV000979457	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs374791168
Clinvar_Rec_1659	rs148366188	Benign/Likely benign	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000368077;RCV000275930;RCV000311187;RCV000871317	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148366188
Clinvar_Rec_1660	rs771604820	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal Syndrome;Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome;Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME;Macular degeneration	RCV000353181;RCV000671962;RCV000314768;RCV000671962;RCV000671962;RCV000260758	MedGen;Orphanet;OMIM;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;214150;41283003;MedGen;ORPHA191;21086008;MedGen;133540;ORPHA90322;MedGen;278800;ORPHA1569;414673004;Human Phenotype Ontology;C0024437;422338006	criteria provided, conflicting interpretations	tagSNP	rs771604820
Clinvar_Rec_1661	rs786205170	Pathogenic/Likely pathogenic	Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome B;Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME	RCV000668548;RCV000170385;RCV000668548;RCV000668548	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0220722;214150;41283003;MedGen;133540;ORPHA90322;MedGen;133540;ORPHA90322;MedGen;278800;ORPHA1569;414673004	criteria provided, multiple submitters, no conflicts	tagSNP	rs786205170
Clinvar_Rec_1662	rs4253046	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided	RCV000266947;RCV000324334;RCV000364031;RCV000733377	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs4253046
Clinvar_Rec_1663	rs765040780	Uncertain significance	Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME	RCV000664827;RCV000664827;RCV000664827	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0220722;214150;41283003;MedGen;133540;ORPHA90322;MedGen;278800;ORPHA1569;414673004	criteria provided, single submitter	tagSNP	rs765040780
Clinvar_Rec_1664	rs754206331	Uncertain significance	Hereditary mixed polyposis syndrome	RCV000417252	MedGen;Orphanet	CN240759;ORPHA157794	no assertion criteria provided	tagSNP	rs754206331
Clinvar_Rec_1665	rs762176717	Conflicting interpretations of pathogenicity	Epileptic encephalopathy;Inborn genetic diseases	RCV000693784;RCV000210585	Human Phenotype Ontology;MedGen;MedGen	HP;C0543888;MeSH;C0950123	criteria provided, conflicting interpretations	tagSNP	rs762176717
Clinvar_Rec_1666	rs751763127	Uncertain significance	Epileptic encephalopathy	RCV000692529	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs751763127
Clinvar_Rec_1667	rs16958873	Likely benign	Agenesis of the corpus callosum with peripheral neuropathy	RCV000396838	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs16958873
Clinvar_Rec_1668	rs1555376519	Uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	RCV000672315	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs1555376519
Clinvar_Rec_1669	rs3751526	Benign/Likely benign	Legius syndrome;not provided;not specified	RCV000034272;RCV000589810;RCV000041236	MedGen;OMIM;Orphanet	C1969623;611431;ORPHA137605;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3751526
Clinvar_Rec_1670	rs587777102	Pathogenic/Likely pathogenic	Pulmonary venoocclusive disease 2, autosomal recessive	RCV000083306	MedGen;OMIM;SNOMED CT	C0340848;234810;234161007	no assertion criteria provided	tagSNP	rs587777102
Clinvar_Rec_1671	rs2229312	Benign/Likely benign	Isovaleryl-CoA dehydrogenase deficiency;not specified	RCV000315524;RCV000080001	MedGen;OMIM;Orphanet;SNOMED CT	C0268575;243500;ORPHA33;87827003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229312
Clinvar_Rec_1672	rs2229312	Likely benign	Isovaleryl-CoA dehydrogenase deficiency	RCV000318067	MedGen;OMIM;Orphanet;SNOMED CT	C0268575;243500;ORPHA33;87827003	criteria provided, single submitter	LD derived	rs12185076
Clinvar_Rec_1673	rs1163816425	Uncertain significance	Isovaleryl-CoA dehydrogenase deficiency	RCV000535701	MedGen;OMIM;Orphanet;SNOMED CT	C0268575;243500;ORPHA33;87827003	criteria provided, single submitter	tagSNP	rs1163816425
Clinvar_Rec_1674	rs12148454	Likely benign	Primary Microcephaly, Recessive	RCV000356237	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs12148454
Clinvar_Rec_1675	rs12148454	Likely benign	Primary Microcephaly, Recessive;not specified	RCV000288975;RCV000116572	MedGen	CN239428;MedGen	criteria provided, single submitter	LD derived	rs16970911
Clinvar_Rec_1676	rs8041534	Benign	Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 4;not specified	RCV000364844;RCV000989291;RCV000116565	MedGen;OMIM	CN239428;MedGen;604321;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8041534
Clinvar_Rec_1677	rs8041534	Benign	Primary Microcephaly, Recessive;not specified	RCV000300029;RCV000116561	MedGen	CN239428;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11858113
Clinvar_Rec_1678	rs8041534	Benign	Primary Microcephaly, Recessive;not specified	RCV000369685;RCV000116562	MedGen	CN239428;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11855334
Clinvar_Rec_1679	rs8041534	Benign	Primary Microcephaly, Recessive;not specified	RCV000317334;RCV000116568	MedGen	CN239428;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11070285
Clinvar_Rec_1680	rs200472799	Conflicting interpretations of pathogenicity	Mitochondrial complex I deficiency;not provided;not specified	RCV000301292;RCV000911034;RCV000196654	MedGen	C2936907;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200472799
Clinvar_Rec_1681	rs531948733	Uncertain significance	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000644984;RCV000730359	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs553169803
Clinvar_Rec_1682	rs116172840	Benign/Likely benign	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided;not specified	RCV000308855;RCV000270251;RCV000859291;RCV000116546	MedGen;OMIM;Orphanet	CN239352;MedGen;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs62642519
Clinvar_Rec_1683	rs531320636	Uncertain significance	Congenital dyserythropoietic anemia	RCV000288162	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs531320636
Clinvar_Rec_1684	rs767935615	Uncertain significance	Congenital dyserythropoietic anemia	RCV000400788	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs767935615
Clinvar_Rec_1685	rs201996155	Conflicting interpretations of pathogenicity	Peeling skin syndrome 1;not provided	RCV000329720;RCV000963716	MedGen;OMIM;Orphanet	C1849193;270300;ORPHA263553;MedGen	criteria provided, conflicting interpretations	LD derived	rs142648722
Clinvar_Rec_1686	rs575471655	Uncertain significance	Spherocytosis, Recessive	RCV000345535	MedGen	CN239472	criteria provided, single submitter	LD derived	rs199505318
Clinvar_Rec_1687	rs375403626	Uncertain significance	Spastic Paraplegia, Recessive;Spastic paraplegia 11, autosomal recessive	RCV000342963;RCV000685697	MedGen;OMIM;Orphanet	CN239433;MedGen;604360;ORPHA2822	criteria provided, multiple submitters, no conflicts	tagSNP	rs375403626
Clinvar_Rec_1688	rs1060501173	Pathogenic/Likely pathogenic	Spastic paraplegia 11, autosomal recessive;not provided	RCV000462168;RCV000627294	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501173
Clinvar_Rec_1689	rs1393655599	Likely benign	Spastic paraplegia 11, autosomal recessive	RCV000642604	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs1393655599
Clinvar_Rec_1690	rs1060501175	Uncertain significance	Spastic paraplegia 11, autosomal recessive	RCV000472822	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs1060501175
Clinvar_Rec_1691	rs141596008	Uncertain significance	Spastic paraplegia 11, autosomal recessive	RCV000185539	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs141596008
Clinvar_Rec_1692	rs747798305	Uncertain significance	Spastic paraplegia 11, autosomal recessive	RCV000704672	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs747798305
Clinvar_Rec_1693	rs1488126503	Uncertain significance	Spastic paraplegia 11, autosomal recessive	RCV000642567	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs1488126503
Clinvar_Rec_1694	rs1057519879	Likely pathogenic	Adenocarcinoma of stomach;Lung adenocarcinoma;Malignant melanoma of skin;Multiple myeloma;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Serous Cystadenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma	RCV000438190;RCV000419044;RCV000444855;RCV000419253;RCV000439772;RCV000429996;RCV000426708;RCV000427508;RCV000420355;RCV000437364	MedGen;MeSH;MedGen;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen	C0278701;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MedGen;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782	no assertion criteria provided	tagSNP	rs1057519879
Clinvar_Rec_1695	rs1057519879	Likely pathogenic	Adenocarcinoma of stomach;Lung adenocarcinoma;Malignant melanoma of skin;Multiple myeloma;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Serous Cystadenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma	RCV000442386;RCV000432053;RCV000438363;RCV000439578;RCV000421385;RCV000421129;RCV000434386;RCV000428897;RCV000434444;RCV000423518	MedGen;MeSH;MedGen;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen	C0278701;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MedGen;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782	no assertion criteria provided	tagSNP	rs1057519879
Clinvar_Rec_1696	rs1057519877	Likely pathogenic	Adenocarcinoma of stomach;Lung adenocarcinoma;Malignant melanoma of skin;Multiple myeloma;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Serous Cystadenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma	RCV000441172;RCV000433517;RCV000430927;RCV000432370;RCV000422802;RCV000426129;RCV000423896;RCV000442543;RCV000433775;RCV000442680	MedGen;MeSH;MedGen;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen	C0278701;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MedGen;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782	no assertion criteria provided	tagSNP	rs1057519877
Clinvar_Rec_1697	rs368160918	Uncertain significance	Hypoproteinemia, hypercatabolic	RCV000642237	MedGen;OMIM	C1855796;241600	criteria provided, single submitter	tagSNP	rs368160918
Clinvar_Rec_1698	rs143945898	Likely benign	Cardiovascular phenotype;not provided	RCV000247988;RCV000867468	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143945898
Clinvar_Rec_1699	rs150037641	Likely benign	Cardiovascular phenotype;not provided	RCV000620261;RCV000827128	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150037641
Clinvar_Rec_1700	rs1555869979	Conflicting interpretations of pathogenicity	Classic homocystinuria	RCV000669704	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394	criteria provided, conflicting interpretations	tagSNP	rs1555869979
Clinvar_Rec_1701	rs760609383	Conflicting interpretations of pathogenicity	Classic homocystinuria	RCV000671969	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394	criteria provided, conflicting interpretations	tagSNP	rs760609383
Clinvar_Rec_1702	rs555751528	Uncertain significance	Classic homocystinuria	RCV000700809	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394	criteria provided, single submitter	tagSNP	rs555751528
Clinvar_Rec_1703	rs755238635	Uncertain significance	Epileptic encephalopathy, early infantile, 30	RCV000689045	MedGen;OMIM	C4225360;616341	criteria provided, single submitter	tagSNP	rs755238635
Clinvar_Rec_1704	rs376640139	Benign	Seizures;not provided	RCV000717741;RCV000969586	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376640139
Clinvar_Rec_1705	rs200577790	Uncertain significance	Epileptic encephalopathy, early infantile, 30;Seizures	RCV000792606;RCV000717571	MedGen;OMIM;MedGen	C4225360;616341;Human Phenotype Ontology;C0036572	criteria provided, multiple submitters, no conflicts	LD derived	rs545863305
Clinvar_Rec_1706	rs386833439	Pathogenic/Likely pathogenic	Unverricht-Lundborg syndrome	RCV000049366	MedGen;OMIM;Orphanet;SNOMED CT	C0751785;254800;ORPHA308;230423006	no assertion criteria provided	tagSNP	rs386833439
Clinvar_Rec_1707	rs1436155713	Likely benign	Seizures;not provided	RCV000716940;RCV000932412	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1436155713
Clinvar_Rec_1708	rs527734930	Uncertain significance	Leukocyte adhesion deficiency	RCV000402969	MedGen;Orphanet	C0272187;ORPHA2968	criteria provided, single submitter	LD derived	rs548099370
Clinvar_Rec_1709	rs2280965	Benign	Leukocyte adhesion deficiency	RCV000277602	MedGen;Orphanet	C0272187;ORPHA2968	criteria provided, single submitter	tagSNP	rs2280965
Clinvar_Rec_1710	rs755778352	Uncertain significance	Knobloch syndrome 1	RCV000273105	MedGen;OMIM;Orphanet	C4551775;267750;ORPHA1571	criteria provided, single submitter	tagSNP	rs755778352
Clinvar_Rec_1711	rs74439012	Benign/Likely benign	Knobloch syndrome 1;not provided	RCV000368234;RCV000948102	MedGen;OMIM;Orphanet	C4551775;267750;ORPHA1571;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs74439012
Clinvar_Rec_1712	rs17255281	Uncertain significance	Knobloch syndrome 1	RCV000385255	MedGen;OMIM;Orphanet	C4551775;267750;ORPHA1571	criteria provided, single submitter	tagSNP	rs17255281
Clinvar_Rec_1713	rs17255281	Uncertain significance	Knobloch syndrome 1	RCV000364738	MedGen;OMIM;Orphanet	C4551775;267750;ORPHA1571	criteria provided, single submitter	LD derived	rs17255379
Clinvar_Rec_1714	rs186538749	Uncertain significance	Knobloch syndrome 1	RCV000377357	MedGen;OMIM;Orphanet	C4551775;267750;ORPHA1571	criteria provided, single submitter	tagSNP	rs186538749
Clinvar_Rec_1715	rs538884406	Likely benign	Collagen VI-related myopathy	RCV000320270	MedGen	CN117976	criteria provided, single submitter	LD derived	rs545323453
Clinvar_Rec_1716	rs141572895	Uncertain significance	Bethlem myopathy 1	RCV000547261	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs141572895
Clinvar_Rec_1717	rs886044511	Uncertain significance	Bethlem myopathy 1	RCV000653531	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs886044511
Clinvar_Rec_1718	rs115107397	Benign/Likely benign	Collagen VI-related myopathy;not specified	RCV000327992;RCV000079744	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115107397
Clinvar_Rec_1719	rs1436272876	Uncertain significance	Bethlem myopathy 1	RCV000687095	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs1436272876
Clinvar_Rec_1720	rs1569518677	Likely pathogenic	Ullrich congenital muscular dystrophy 1	RCV000754717	MedGen;OMIM	CN033863;254090	criteria provided, single submitter	tagSNP	rs1569518677
Clinvar_Rec_1721	rs760227367	Uncertain significance	Bethlem myopathy 1	RCV000536115	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs760227367
Clinvar_Rec_1722	rs190664941	Benign/Likely benign	Collagen VI-related myopathy;Myosclerosis;not provided;not specified	RCV000275063;RCV000332444;RCV000549645;RCV000176864	MedGen;Orphanet	CN117976;MedGen;ORPHA289380;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs190664941
Clinvar_Rec_1723	rs756253502	Likely benign	Collagen VI-related myopathy;Myosclerosis	RCV000393895;RCV000311685	MedGen;Orphanet	CN117976;MedGen;ORPHA289380	criteria provided, single submitter	tagSNP	rs756253502
Clinvar_Rec_1724	rs886057172	Uncertain significance	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	RCV000348249	MedGen;OMIM;Orphanet;SNOMED CT	C0268609;229100;ORPHA51208;59761008	criteria provided, single submitter	tagSNP	rs886057172
Clinvar_Rec_1725	rs114980528	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Myosclerosis	RCV000328840;RCV000269021;RCV000287869	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN117976;MedGen;229100;ORPHA51208;59761008;MedGen;ORPHA289380	criteria provided, conflicting interpretations	tagSNP	rs114980528
Clinvar_Rec_1726	rs569098823	Likely benign	Collagen VI-related myopathy	RCV000292742	MedGen	CN117976	criteria provided, single submitter	LD derived	rs568728524
Clinvar_Rec_1727	rs80017051	Benign/Likely benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000311658;RCV000147147	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80017051
Clinvar_Rec_1728	rs80017051	Benign/Likely benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000401206;RCV000127364	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138595914
Clinvar_Rec_1729	rs80017051	Benign/Likely benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000374130;RCV000147191	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61735814
Clinvar_Rec_1730	rs80017051	Benign/Likely benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000289221;RCV000147201	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61735817
Clinvar_Rec_1731	rs2249057	Benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000402281;RCV000147090	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2249057
Clinvar_Rec_1732	rs2249057	Uncertain significance	Microcephalic Osteodysplastic Primordial Dwarfism	RCV000372635	MedGen	CN239360	criteria provided, single submitter	LD derived	rs2839217
Clinvar_Rec_1733	rs2249057	Benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000317940;RCV000147195	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2839217
Clinvar_Rec_1734	rs2249057	Benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000279190;RCV000147122	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3737438
Clinvar_Rec_1735	rs576662458	Likely benign	Collagen VI-related myopathy	RCV000357295	MedGen	CN117976	criteria provided, single submitter	LD derived	rs557900713
Clinvar_Rec_1736	rs886057188	Uncertain significance	Microcephalic Osteodysplastic Primordial Dwarfism	RCV000371230	MedGen	CN239360	criteria provided, single submitter	tagSNP	rs886057188
Clinvar_Rec_1737	rs8131693	Benign/Likely benign	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000296947;RCV000147213	MedGen	CN239360;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8131693
Clinvar_Rec_1738	rs184791114	Conflicting interpretations of pathogenicity	Hereditary sensory and autonomic neuropathy type II;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive;not specified	RCV000282560;RCV000395012;RCV000350424;RCV000442031	MedGen;Orphanet	C0020072;ORPHA970;MedGen	criteria provided, conflicting interpretations	LD derived	rs201456681
Clinvar_Rec_1739	rs180177279	Pathogenic	Primary hyperoxaluria, type I	RCV000186337	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177279
Clinvar_Rec_1740	rs180177280	Uncertain significance	Primary hyperoxaluria, type I	RCV000186259	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177280
Clinvar_Rec_1741	rs555898820	Uncertain significance	D-2-hydroxyglutaric aciduria	RCV000304213	Human Phenotype Ontology;MedGen;Orphanet	HP;C1833429;ORPHA79315	criteria provided, single submitter	tagSNP	rs555898820
Clinvar_Rec_1742	rs535025599	Uncertain significance	Lig4 syndrome;Severe combined immunodeficiency due to DCLRE1C deficiency	RCV000338575;RCV000386052	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1847827;606593;ORPHA99812;MedGen;602450;ORPHA275	criteria provided, single submitter	tagSNP	rs535025599
Clinvar_Rec_1743	rs193107403	Uncertain significance	Lig4 syndrome	RCV000699237	MedGen;OMIM;Orphanet	C1847827;606593;ORPHA99812	criteria provided, single submitter	tagSNP	rs193107403
Clinvar_Rec_1744	rs1805388	Benign	Lig4 syndrome;Multiple myeloma, resistance to;Severe combined immunodeficiency due to DCLRE1C deficiency;not provided;not specified	RCV000325082;RCV000008116;RCV000382071;RCV000860307;RCV000126631	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1847827;606593;ORPHA99812;MedGen;602450;ORPHA275;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1805388
Clinvar_Rec_1745	rs776016334	Uncertain significance	Acquired porencephaly;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage	RCV000334429;RCV000284838;RCV000372751	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C4082172;ORPHA314697;MedGen;611773;ORPHA73229;MedGen	criteria provided, single submitter	tagSNP	rs776016334
Clinvar_Rec_1746	rs557198622	Likely benign	Acquired porencephaly;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage	RCV000374219;RCV000349879;RCV000292715	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C4082172;ORPHA314697;MedGen;611773;ORPHA73229;MedGen	criteria provided, single submitter	tagSNP	rs557198622
Clinvar_Rec_1747	rs1057523354	Pathogenic/Likely pathogenic	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease 1 with or without ocular anomalies;not provided	RCV000787959;RCV000787959;RCV000429348	MedGen;OMIM;Orphanet;OMIM;Orphanet	C2673195;611773;ORPHA73229;MedGen;175780;ORPHA36383;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523354
Clinvar_Rec_1748	rs886049978	Uncertain significance	Acquired porencephaly	RCV000267977	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697	criteria provided, single submitter	tagSNP	rs886049978
Clinvar_Rec_1749	rs115373326	Benign/Likely benign	Acquired porencephaly;not provided	RCV000308762;RCV000960547	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115373326
Clinvar_Rec_1750	rs756684753	Uncertain significance	Acquired porencephaly	RCV000305363	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697	criteria provided, single submitter	tagSNP	rs756684753
Clinvar_Rec_1751	rs886049983	Uncertain significance	Acquired porencephaly	RCV000348623	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697	criteria provided, single submitter	tagSNP	rs886049983
Clinvar_Rec_1752	rs368359845	Likely benign	Factor VII deficiency;Factor X deficiency	RCV000358592;RCV000314515	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0015503;227500;ORPHA327;37193007;MedGen;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs368359845
Clinvar_Rec_1753	rs116688254	Likely benign	Factor VII deficiency;Factor X deficiency	RCV000386699;RCV000369304	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0015503;227500;ORPHA327;37193007;MedGen;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs116688254
Clinvar_Rec_1754	rs527964905	Uncertain significance	Factor X deficiency	RCV000351469	MedGen;OMIM;Orphanet;SNOMED CT	C0015519;227600;ORPHA328;76642003	criteria provided, single submitter	LD derived	rs149972574
Clinvar_Rec_1755	rs797044963	Pathogenic	Mental retardation, autosomal dominant 40;intellectual disability with severe speech impairment	RCV000192000;RCV000190454	MedGen;OMIM	C4225275;616579;MedGen	criteria provided, single submitter	tagSNP	rs797044963
Clinvar_Rec_1756	rs145444170	Uncertain significance	Immunodeficiency 40	RCV000688196	MedGen;OMIM;Orphanet	C4225328;616433;ORPHA447737	criteria provided, single submitter	tagSNP	rs145444170
Clinvar_Rec_1757	rs529731562	Likely benign	Cardiovascular phenotype	RCV000620989	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs529731562
Clinvar_Rec_1758	rs529731562	Uncertain significance	Atrial septal defect 7 with or without atrioventricular conduction defects;Cardiovascular phenotype	RCV000532333;RCV000617437	MedGen;OMIM	C3276096;108900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs569535312
Clinvar_Rec_1759	rs137852683	Pathogenic	Atrial septal defect 7 with or without atrioventricular conduction defects;Atrioventricular septal defect, somatic	RCV000009579;RCV000009580	MedGen;OMIM	C3276096;108900;MedGen	no assertion criteria provided	tagSNP	rs137852683
Clinvar_Rec_1760	rs1554093405	Likely benign	Atrial septal defect 7 with or without atrioventricular conduction defects	RCV000556272	MedGen;OMIM	C3276096;108900	criteria provided, single submitter	tagSNP	rs1554093405
Clinvar_Rec_1761	rs879253754	Likely pathogenic	Atrial septal defect 7 with or without atrioventricular conduction defects	RCV000234875	MedGen;OMIM	C3276096;108900	no assertion criteria provided	tagSNP	rs879253754
Clinvar_Rec_1762	rs137852686	Pathogenic	Atrioventricular septal defect, somatic	RCV000009586	MedGen	C1833590	no assertion criteria provided	tagSNP	rs137852686
Clinvar_Rec_1763	rs72554028	Benign/Likely benign	Atrial septal defect;Cardiovascular phenotype;not provided;not specified	RCV000030337;RCV000618622;RCV000227846;RCV000146753	Human Phenotype Ontology;MedGen;Orphanet	HP;C0018817;ORPHA1478;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72554028
Clinvar_Rec_1764	rs72554028	Pathogenic	Atrial septal defect-atrioventricular conduction defects syndrome	RCV000588165	MedGen;Orphanet	C3502353;ORPHA1479	criteria provided, single submitter	tagSNP	rs72554028
Clinvar_Rec_1765	rs144524958	Uncertain significance	Acute myeloid leukemia;Beckwith-Wiedemann syndrome;Sotos syndrome 1	RCV000764591;RCV000628543;RCV000764591	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;130650;ORPHA116;81780002;MedGen;117550	criteria provided, multiple submitters, no conflicts	tagSNP	rs144524958
Clinvar_Rec_1766	rs121908067	Pathogenic	Sotos syndrome 1	RCV000004351	MedGen;OMIM	C4551477;117550	no assertion criteria provided	tagSNP	rs121908067
Clinvar_Rec_1767	rs150421873	Benign/Likely benign	Sotos syndrome;Weaver syndrome;not provided;not specified	RCV000368377;RCV000262087;RCV000866290;RCV000246284	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150421873
Clinvar_Rec_1768	rs1554188985	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000628553	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1554188985
Clinvar_Rec_1769	rs587784078	Pathogenic	Sotos syndrome 1	RCV000146774	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784078
Clinvar_Rec_1770	rs587784085	Pathogenic	Sotos syndrome 1	RCV000146784	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784085
Clinvar_Rec_1771	rs374740802	Uncertain significance	Beckwith-Wiedemann syndrome;not provided	RCV001043756;RCV000082110	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374740802
Clinvar_Rec_1772	rs374740802	Likely pathogenic	Beckwith-Wiedemann syndrome;Sotos syndrome 1	RCV000195430;RCV000195430	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0004903;130650;ORPHA116;81780002;MedGen;117550	criteria provided, single submitter	tagSNP	rs374740802
Clinvar_Rec_1773	rs1562208925	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000700310	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1562208925
Clinvar_Rec_1774	rs193290006	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716019;RCV000865957;RCV000082118	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs193290006
Clinvar_Rec_1775	rs587784099	Pathogenic	Sotos syndrome 1	RCV000146807	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784099
Clinvar_Rec_1776	rs199814669	Benign/Likely benign	History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified	RCV000716082;RCV000371934;RCV000317279;RCV000146813	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199814669
Clinvar_Rec_1777	rs587784103	Pathogenic	Sotos syndrome 1	RCV000146814	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784103
Clinvar_Rec_1778	rs372004424	Likely benign	Sotos syndrome;Weaver syndrome	RCV000337154;RCV000281878	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	tagSNP	rs372004424
Clinvar_Rec_1779	rs372004424	Uncertain significance	Sotos syndrome 1	RCV000660184	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs372004424
Clinvar_Rec_1780	rs886060442	Uncertain significance	Sotos syndrome;Weaver syndrome	RCV000392582;RCV000283181	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	tagSNP	rs886060442
Clinvar_Rec_1781	rs28932181	Benign	History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified	RCV000715279;RCV000405027;RCV000342876;RCV000082122	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28932181
Clinvar_Rec_1782	rs1554195876	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000526042	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1554195876
Clinvar_Rec_1783	rs587784197	Pathogenic	Sotos syndrome 1;not provided	RCV000146927;RCV000482162	MedGen;OMIM	C4551477;117550;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587784197
Clinvar_Rec_1784	rs1562305920	Likely pathogenic	Beckwith-Wiedemann syndrome	RCV000698132	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1562305920
Clinvar_Rec_1785	rs587784211	Likely pathogenic	Sotos syndrome 1	RCV000146942	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784211
Clinvar_Rec_1786	rs35848863	Benign	Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified	RCV000471020;RCV000715515;RCV000299910;RCV000359399;RCV000082135	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002;MedGen;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35848863
Clinvar_Rec_1787	rs35848863	Benign	Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified	RCV000476340;RCV000715513;RCV000324720;RCV000264900;RCV000082136	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002;MedGen;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34165241
Clinvar_Rec_1788	rs35848863	Benign	Sotos syndrome;Weaver syndrome	RCV000339104;RCV000403521	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	LD derived	rs75587357
Clinvar_Rec_1789	rs587784215	Uncertain significance	Sotos syndrome 1	RCV000146946	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs587784215
Clinvar_Rec_1790	rs754309202	Uncertain significance	Beckwith-Wiedemann syndrome;not provided	RCV000689358;RCV000176423	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754309202
Clinvar_Rec_1791	rs11740250	Benign	History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified	RCV000715355;RCV000328643;RCV000383147;RCV000082139	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11740250
Clinvar_Rec_1792	rs1406542990	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000702064	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1406542990
Clinvar_Rec_1793	rs148891711	Benign/Likely benign	Sotos syndrome;Weaver syndrome;not provided	RCV000300750;RCV000336924;RCV000864052	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148891711
Clinvar_Rec_1794	rs1562312238	Pathogenic	Sotos syndrome 1	RCV000004361	MedGen;OMIM	C4551477;117550	no assertion criteria provided	tagSNP	rs1562312238
Clinvar_Rec_1795	rs1554208207	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000628564	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1554208207
Clinvar_Rec_1796	rs558071108	Likely benign	Sotos syndrome;Weaver syndrome	RCV000370285;RCV000404436	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	LD derived	rs566513882
Clinvar_Rec_1797	rs886060479	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000321041	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs886060479
Clinvar_Rec_1798	rs886060501	Uncertain significance	Paget disease of bone	RCV000267029	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs886060501
Clinvar_Rec_1799	rs4935	Benign/Likely benign	Paget disease of bone;Paget disease of bone 2, early-onset;not provided;not specified	RCV000347125;RCV000600605;RCV000713546;RCV000251052	MedGen;Orphanet;SNOMED CT;OMIM	C0029401;ORPHA280110;2089002;MedGen;602080;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4935
Clinvar_Rec_1800	rs1060271	Likely benign	Paget disease of bone	RCV000394807	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs1060271
Clinvar_Rec_1801	rs148611524	Uncertain significance	Paget disease of bone	RCV000341700	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs148611524
Clinvar_Rec_1802	rs61742526	Uncertain significance	Paget disease of bone	RCV000297389	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs61742526
Clinvar_Rec_1803	rs199887787	Likely benign	Paget disease of bone	RCV000354083	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002	criteria provided, single submitter	tagSNP	rs199887787
Clinvar_Rec_1804	rs55782074	Benign/Likely benign	Paget disease of bone;not provided	RCV000267289;RCV000528742	MedGen;Orphanet;SNOMED CT	C0029401;ORPHA280110;2089002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61748794
Clinvar_Rec_1805	rs147664127	Uncertain significance	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset	RCV000531110;RCV000531110	MedGen;OMIM;OMIM	C3888102;105550;MedGen;602080	criteria provided, single submitter	LD derived	rs181263868
Clinvar_Rec_1806	rs752839979	Pathogenic	INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE	RCV000758215	MedGen;OMIM	CN258232;618342	no assertion criteria provided	tagSNP	rs752839979
Clinvar_Rec_1807	rs190942684	Uncertain significance	Pendred syndrome;not specified	RCV000670464;RCV000036431	MedGen;OMIM;Orphanet;SNOMED CT	C0271829;274600;ORPHA705;70348004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs111033527
Clinvar_Rec_1808	rs138002793	Uncertain significance	Leigh syndrome;Maple syrup urine disease;Pyruvate dehydrogenase complex deficiency;not provided;not specified	RCV000281549;RCV000376021;RCV000317845;RCV000487629;RCV000367820	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MeSH;C0024776;248600;ORPHA511;27718001;MedGen;ORPHA765;46683007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138002793
Clinvar_Rec_1809	rs1554402678	Likely pathogenic	Lissencephaly 5	RCV000626182	MedGen;OMIM;Orphanet	C3554657;615191;ORPHA352682	criteria provided, single submitter	tagSNP	rs1554402678
Clinvar_Rec_1810	rs1799999	risk factor	Insulin resistance, susceptibility to	RCV000009243	MedGen	C1852091	no assertion criteria provided	tagSNP	rs1799999
Clinvar_Rec_1811	rs150361315	Likely benign	Speech-language disorder 1	RCV000328767	MedGen;OMIM;Orphanet	C0750927;602081;ORPHA209908	criteria provided, single submitter	tagSNP	rs150361315
Clinvar_Rec_1812	rs769641895	Uncertain significance	Speech-language disorder 1	RCV000265229	MedGen;OMIM;Orphanet	C0750927;602081;ORPHA209908	criteria provided, single submitter	tagSNP	rs769641895
Clinvar_Rec_1813	rs370499060	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000163596;RCV000234105	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs370499060
Clinvar_Rec_1814	rs973796037	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV001014489;RCV000709025	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs973796037
Clinvar_Rec_1815	rs1554378400	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571521	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554378400
Clinvar_Rec_1816	rs774038166	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573187;RCV000828150	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774038166
Clinvar_Rec_1817	rs1554378434	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000628754	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs1554378434
Clinvar_Rec_1818	rs1410705895	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV001022320;RCV000528348	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1410705895
Clinvar_Rec_1819	rs863224696	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000195812	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs863224696
Clinvar_Rec_1820	rs376097698	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000538501	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs376097698
Clinvar_Rec_1821	rs376097698	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000561268;RCV000795657	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs376097698
Clinvar_Rec_1822	rs921083171	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV001025702;RCV000628753	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs921083171
Clinvar_Rec_1823	rs786203471	Likely benign	Hereditary cancer-predisposing syndrome	RCV000166789	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203471
Clinvar_Rec_1824	rs757402499	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000699570	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs757402499
Clinvar_Rec_1825	rs1554378780	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569548	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554378780
Clinvar_Rec_1826	rs757427533	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000572749;RCV000628723	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs757427533
Clinvar_Rec_1827	rs368144654	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000564380;RCV000628765	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs368144654
Clinvar_Rec_1828	rs368144654	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000168227	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs368144654
Clinvar_Rec_1829	rs1207381066	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561905	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1207381066
Clinvar_Rec_1830	rs879254343	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000236318	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs879254343
Clinvar_Rec_1831	rs1562884246	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000688724	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs1562884246
Clinvar_Rec_1832	rs375716972	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001019255;RCV000199122	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375716972
Clinvar_Rec_1833	rs201467281	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1;not provided;not specified	RCV000563453;RCV000123136;RCV000034535;RCV000599960	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201467281
Clinvar_Rec_1834	rs1060503529	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000468794	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs1060503529
Clinvar_Rec_1835	rs200690492	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1;not provided	RCV000562476;RCV000535028;RCV000034513	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200690492
Clinvar_Rec_1836	rs201271860	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000574096;RCV000168360	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201271860
Clinvar_Rec_1837	rs758738756	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV001021756;RCV000551375	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs758738756
Clinvar_Rec_1838	rs1292389793	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV001022020;RCV000628764	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1292389793
Clinvar_Rec_1839	rs139535303	Likely benign	Renal cell carcinoma, papillary, 1	RCV000278776	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs139535303
Clinvar_Rec_1840	rs41739	Benign	Renal cell carcinoma, papillary, 1	RCV000401260	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs41739
Clinvar_Rec_1841	rs121908796	Pathogenic	Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Cystic fibrosis	RCV001004274;RCV000046468;RCV001004274	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0403814;277180;ORPHA48;MedGen;219700;ORPHA586;190905008;MedGen;219700;ORPHA586;190905008	reviewed by expert panel	tagSNP	rs121908796
Clinvar_Rec_1842	rs121908796	Pathogenic	Cystic fibrosis	RCV000577703	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs121908796
Clinvar_Rec_1843	rs397508302	Uncertain significance	Cystic fibrosis	RCV000665248	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs397508302
Clinvar_Rec_1844	rs143036685	not provided	Cystic fibrosis	RCV000577777	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	no assertion provided	tagSNP	rs143036685
Clinvar_Rec_1845	rs1554389290	Uncertain significance	Cystic fibrosis	RCV000671291	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs1554389290
Clinvar_Rec_1846	rs397508325	Pathogenic	Cystic fibrosis;not specified	RCV000046515;RCV001001298	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008;MedGen	reviewed by expert panel	tagSNP	rs397508325
Clinvar_Rec_1847	rs1554397779	Likely benign	Cystic fibrosis	RCV000630465	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs1554397779
Clinvar_Rec_1848	rs1553160375	Uncertain significance	Dilated Cardiomyopathy, Recessive	RCV000655462	MedGen	CN239222	criteria provided, single submitter	tagSNP	rs1553160375
Clinvar_Rec_1849	rs933542967	Uncertain significance	Dilated Cardiomyopathy, Recessive	RCV000526625	MedGen	CN239222	criteria provided, single submitter	tagSNP	rs933542967
Clinvar_Rec_1850	rs1739842	Benign	Bartter syndrome, type 4b;not provided	RCV000986249;RCV000711245	MedGen;OMIM	C4310805;613090;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10927887
Clinvar_Rec_1851	rs111512184	Benign	Age-related cortical cataract	RCV000356001	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	tagSNP	rs111512184
Clinvar_Rec_1852	rs111512184	Benign	Age-related cortical cataract	RCV000396328	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	LD derived	rs78569898
Clinvar_Rec_1853	rs111512184	Benign	Age-related cortical cataract	RCV000270600	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	LD derived	rs113810531
Clinvar_Rec_1854	rs111512184	Benign	Age-related cortical cataract	RCV000335984	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	LD derived	rs11543935
Clinvar_Rec_1855	rs111512184	Benign	Age-related cortical cataract;not provided	RCV000393262;RCV000828288	Human Phenotype Ontology;MedGen	HP;C2880562;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35586310
Clinvar_Rec_1856	rs111512184	Benign	Age-related cortical cataract;not provided	RCV000379283;RCV000828286	Human Phenotype Ontology;MedGen	HP;C2880562;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34021505
Clinvar_Rec_1857	rs146367469	Likely benign	Age-related cortical cataract	RCV000302406	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	tagSNP	rs146367469
Clinvar_Rec_1858	rs137853200	Pathogenic	Cataract 6, multiple types	RCV000014169	MedGen;OMIM	C1861825;116600	no assertion criteria provided	tagSNP	rs137853200
Clinvar_Rec_1859	rs143247718	Likely benign	Age-related cortical cataract	RCV000307736	Human Phenotype Ontology;MedGen	HP;C2880562	criteria provided, single submitter	tagSNP	rs143247718
Clinvar_Rec_1860	rs864309699	Uncertain significance	Congenital cataract	RCV000203400	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	no assertion criteria provided	tagSNP	rs864309699
Clinvar_Rec_1861	rs34192549	Likely pathogenic	Squamous cell lung carcinoma	RCV000443145	Human Phenotype Ontology;MedGen	HP;C0149782	no assertion criteria provided	tagSNP	rs34192549
Clinvar_Rec_1862	rs34192549	Benign	Age-related cortical cataract;Cataract 6, multiple types;Squamous cell lung carcinoma;not specified	RCV000380110;RCV000531723;RCV000426150;RCV000244271	Human Phenotype Ontology;MedGen;OMIM;MedGen	HP;C2880562;MedGen;116600;Human Phenotype Ontology;C0149782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34192549
Clinvar_Rec_1863	rs114498261	Benign/Likely benign	Age-related cortical cataract;not provided	RCV000395006;RCV000871695	Human Phenotype Ontology;MedGen	HP;C2880562;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114498261
Clinvar_Rec_1864	rs1553177433	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000535495;RCV000535495;RCV000535495	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553177433
Clinvar_Rec_1865	rs138937650	Likely benign	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000545296;RCV000545296;RCV000545296	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs138937650
Clinvar_Rec_1866	rs876660346	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000222005;RCV000938642	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660346
Clinvar_Rec_1867	rs864321637	Likely pathogenic	Pheochromocytoma	RCV000203547	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	no assertion criteria provided	tagSNP	rs864321637
Clinvar_Rec_1868	rs34599281	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV000231407;RCV000626075;RCV000568901;RCV000231407;RCV000231407	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;Human Phenotype Ontology;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, conflicting interpretations	tagSNP	rs34599281
Clinvar_Rec_1869	rs1277374324	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV000633977;RCV001013127;RCV000633977;RCV000633977	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs1277374324
Clinvar_Rec_1870	rs1553178735	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000559773;RCV000559773;RCV000559773	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553178735
Clinvar_Rec_1871	rs1060503765	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000468197;RCV000468197;RCV000468197	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1060503765
Clinvar_Rec_1872	rs202101384	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma;Variant of unknown significance	RCV000470589;RCV001011583;RCV000470589;RCV000470589;RCV000032784	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300;na	criteria provided, conflicting interpretations	tagSNP	rs202101384
Clinvar_Rec_1873	rs1553178750	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000537949;RCV000537949;RCV000537949	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553178750
Clinvar_Rec_1874	rs1553179311	Likely benign	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000554334;RCV000554334;RCV000554334	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553179311
Clinvar_Rec_1875	rs878854581	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000226011;RCV000226011;RCV000226011	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs878854581
Clinvar_Rec_1876	rs147600006	Uncertain significance	Hyperprolinemia	RCV000343942	Human Phenotype Ontology;MedGen	HP;C0268528	criteria provided, single submitter	tagSNP	rs147600006
Clinvar_Rec_1877	rs9426679	Uncertain significance	Hyperprolinemia	RCV000396868	Human Phenotype Ontology;MedGen	HP;C0268528	criteria provided, single submitter	tagSNP	rs9426679
Clinvar_Rec_1878	rs9426679	Uncertain significance	Hyperprolinemia	RCV000340449	Human Phenotype Ontology;MedGen	HP;C0268528	criteria provided, single submitter	LD derived	rs9426797
Clinvar_Rec_1879	rs756873744	Uncertain significance	Parkinson Disease, Recessive	RCV000282458	MedGen	CN239372	criteria provided, single submitter	tagSNP	rs756873744
Clinvar_Rec_1880	rs2298300	Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000388055;RCV000316648	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs16824318
Clinvar_Rec_1881	rs2298300	Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000334597;RCV000382106	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs143763511
Clinvar_Rec_1882	rs2298300	Benign/Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive;not specified	RCV000380267;RCV000310528;RCV000424368	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6692016
Clinvar_Rec_1883	rs2298300	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not specified	RCV000347694;RCV000444417	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	LD derived	rs17837938
Clinvar_Rec_1884	rs759037798	Uncertain significance	Congenital disorder of glycosylation	RCV000363954	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs759037798
Clinvar_Rec_1885	rs528257664	Uncertain significance	Congenital disorder of glycosylation	RCV000302148	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs528257664
Clinvar_Rec_1886	rs1553414079	Uncertain significance	Infantile hypophosphatasia	RCV000668470	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0268412;241500;ORPHA247651;55236002	criteria provided, single submitter	tagSNP	rs1553414079
Clinvar_Rec_1887	rs121918002	Pathogenic	Adult hypophosphatasia;Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia;not provided	RCV000014652;RCV000014651;RCV000589324;RCV000014650;RCV000224505	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT	C0268413;146300;ORPHA247676;20756002;MedGen;241510;ORPHA247667;30174008;MedGen;ORPHA436;Human Phenotype Ontology;C0268412;241500;ORPHA247651;55236002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918002
Clinvar_Rec_1888	rs1553414611	Conflicting interpretations of pathogenicity	Infantile hypophosphatasia;not provided	RCV000672795;RCV001071997	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0268412;241500;ORPHA247651;55236002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1553414611
Clinvar_Rec_1889	rs121918008	Pathogenic	Adult hypophosphatasia;Adult hypophosphatasia;Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia;Infantile hypophosphatasia;not provided	RCV000014662;RCV000763302;RCV000763302;RCV000207084;RCV000014661;RCV000763302;RCV000224520	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0268413;146300;ORPHA247676;20756002;MedGen;146300;ORPHA247676;20756002;MedGen;241510;ORPHA247667;30174008;MedGen;ORPHA436;Human Phenotype Ontology;C0268412;241500;ORPHA247651;55236002;Human Phenotype Ontology;C0268412;241500;ORPHA247651;55236002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918008
Clinvar_Rec_1890	rs797044870	Pathogenic	Inborn genetic diseases;Takenouchi-Kosaki syndrome	RCV000190678;RCV000601199	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;616737;ORPHA487796	criteria provided, single submitter	tagSNP	rs797044870
Clinvar_Rec_1891	rs149612866	Benign/Likely benign	C1q deficiency;not provided	RCV000625108;RCV000963413	MedGen;OMIM	C3150902;613652;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149612866
Clinvar_Rec_1892	rs112486608	Benign/Likely benign	UDPglucose-4-epimerase deficiency;not specified	RCV000332210;RCV000078692	MedGen;OMIM;Orphanet;SNOMED CT	C0751161;230350;ORPHA79238;8849004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6692104
Clinvar_Rec_1893	rs2076343	Benign	FU1/FU2 POLYMORPHISM;Fucosidosis;not provided	RCV000000726;RCV000382814;RCV000587430	na;MedGen;OMIM;Orphanet;SNOMED CT	C0016788;230000;ORPHA349;64716005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs13551
Clinvar_Rec_1894	rs114583297	Benign	Familial hypercholesterolemia 4;not provided	RCV000623146;RCV000961264	MedGen;OMIM	C1863512;603813;MedGen	criteria provided, single submitter	tagSNP	rs114583297
Clinvar_Rec_1895	rs28969504	Benign	Familial hypercholesterolemia 1;Familial hypercholesterolemia 4;not specified	RCV000329172;RCV000605456;RCV000435861	MedGen;OMIM;SNOMED CT;OMIM	C0745103;143890;397915002;MedGen;603813;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28969504
Clinvar_Rec_1896	rs1311923186	Uncertain significance	Eichsfeld type congenital muscular dystrophy;not provided	RCV000816430;RCV000585312	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1311923186
Clinvar_Rec_1897	rs368377980	Conflicting interpretations of pathogenicity	Eichsfeld type congenital muscular dystrophy;not provided	RCV000811605;RCV000497945	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368377980
Clinvar_Rec_1898	rs749237378	Uncertain significance	Eichsfeld type congenital muscular dystrophy;not provided	RCV000549206;RCV000489897	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749237378
Clinvar_Rec_1899	rs565715051	Uncertain significance	SEPN1-Related Disorders	RCV000387493	MedGen	CN239420	criteria provided, single submitter	tagSNP	rs565715051
Clinvar_Rec_1900	rs144437659	Conflicting interpretations of pathogenicity	Congenital myopathy with fiber type disproportion;Eichsfeld type congenital muscular dystrophy;not provided;not specified	RCV000765103;RCV000765103;RCV000723478;RCV000340120	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0546264;255310;ORPHA2020;240084007;MedGen;602771;ORPHA97244;240063002;MedGen	criteria provided, conflicting interpretations	LD derived	rs183272965
Clinvar_Rec_1901	rs1022655060	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000309775	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs1022655060
Clinvar_Rec_1902	rs905156508	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000300368	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs905156508
Clinvar_Rec_1903	rs150076443	Uncertain significance	Inborn genetic diseases	RCV000624314	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs150076443
Clinvar_Rec_1904	rs1553153768	Uncertain significance	Inborn genetic diseases	RCV000624283	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553153768
Clinvar_Rec_1905	rs1057515509	Uncertain significance	Hyperphosphatasia-intellectual disability syndrome	RCV000391703	MedGen;Orphanet	C1855923;ORPHA247262	criteria provided, single submitter	tagSNP	rs1057515509
Clinvar_Rec_1906	rs143676075	Conflicting interpretations of pathogenicity	Hyperphosphatasia with mental retardation syndrome 1;not provided;not specified	RCV000765108;RCV000983824;RCV000490215	MedGen;OMIM	C4551502;239300;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143676075
Clinvar_Rec_1907	rs1057515548	Uncertain significance	Hyperphosphatasia-intellectual disability syndrome	RCV000403426	MedGen;Orphanet	C1855923;ORPHA247262	criteria provided, single submitter	tagSNP	rs1057515548
Clinvar_Rec_1908	rs886039900	Pathogenic	Xia-Gibbs syndrome	RCV000256460	MedGen;OMIM;Orphanet	C4014419;615829;ORPHA412069	criteria provided, single submitter	tagSNP	rs886039900
Clinvar_Rec_1909	rs886063852	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000372994	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886063852
Clinvar_Rec_1910	rs762457246	Uncertain significance	Abnormality of retinal pigmentation;Abnormality of vision;Adult-onset night blindness;Decreased light- and dark-adapted electroretinogram amplitude;Hypermetropia;Macular dystrophy;Pigmentary retinopathy	RCV000626890;RCV000626890;RCV000626890;RCV000626890;RCV000626890;RCV000626890;RCV000626890	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C1862475;Human Phenotype Ontology;C4025846;Human Phenotype Ontology;C4024790;Human Phenotype Ontology;C1839025;Human Phenotype Ontology;C0020490;Human Phenotype Ontology;C0730292;Human Phenotype Ontology;C4072867	criteria provided, single submitter	tagSNP	rs762457246
Clinvar_Rec_1911	rs1563983151	Pathogenic	Retinal dystrophy;Retinitis pigmentosa 31	RCV001075070;RCV000678633	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;609923	criteria provided, single submitter	tagSNP	rs1563983151
Clinvar_Rec_1912	rs377384599	Conflicting interpretations of pathogenicity	Retinitis Pigmentosa, Dominant;not provided	RCV000408395;RCV000934961	MedGen	CN239354;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377384599
Clinvar_Rec_1913	rs191436812	Likely benign	Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type	RCV000278513;RCV000373051	MedGen	CN239198;MedGen	criteria provided, single submitter	LD derived	rs138490250
Clinvar_Rec_1914	rs886063873	Uncertain significance	Congenital disorder of glycosylation	RCV000382180	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886063873
Clinvar_Rec_1915	rs4879809	Uncertain significance	Amyotrophic lateral sclerosis 16, juvenile	RCV000190342	MedGen;OMIM	C3280587;614373	no assertion criteria provided	tagSNP	rs4879809
Clinvar_Rec_1916	rs773344340	Uncertain significance	Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive 2	RCV000702807;RCV000702807	MedGen;OMIM;OMIM;Orphanet	C3280587;614373;MedGen;605726;ORPHA139552	criteria provided, single submitter	tagSNP	rs773344340
Clinvar_Rec_1917	rs111033638	Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	RCV000022039	MedGen;OMIM;Orphanet;SNOMED CT	C0268151;230400;ORPHA79239;124354006	criteria provided, single submitter	tagSNP	rs111033638
Clinvar_Rec_1918	rs1329151473	Uncertain significance	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1	RCV000688250;RCV000688250	MedGen;OMIM;OMIM	C3151403;613954;MedGen;167320	criteria provided, single submitter	tagSNP	rs1329151473
Clinvar_Rec_1919	rs61752947	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant;not provided	RCV000264259;RCV000360586;RCV000560152	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61752947
Clinvar_Rec_1920	rs535301610	Uncertain significance	Fanconi anemia	RCV000372027	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs535301610
Clinvar_Rec_1921	rs762970543	Uncertain significance	Hyperphosphatasia with mental retardation syndrome 2	RCV000696650	MedGen;OMIM	C3553637;614749	criteria provided, single submitter	tagSNP	rs762970543
Clinvar_Rec_1922	rs664357	Benign	Hyperphosphatasia-intellectual disability syndrome	RCV000343817	MedGen;Orphanet	C1855923;ORPHA247262	criteria provided, single submitter	LD derived	rs556766
Clinvar_Rec_1923	rs554798718	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant	RCV000373728;RCV000279189	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs537730311
Clinvar_Rec_1924	rs376668943	Uncertain significance	Distal arthrogryposis type 1A;Distal arthrogryposis type 2B;Nemaline myopathy 4	RCV000662079;RCV000662081;RCV000662080	MedGen;OMIM;OMIM;Orphanet;OMIM	C0220662;108120;MedGen;601680;ORPHA1147;MedGen;609285	criteria provided, single submitter	tagSNP	rs376668943
Clinvar_Rec_1925	rs1554658784	Uncertain significance	Distal arthrogryposis type 1A	RCV000533653	MedGen;OMIM	C0220662;108120	criteria provided, single submitter	tagSNP	rs1554658784
Clinvar_Rec_1926	rs886063909	Uncertain significance	Acromesomelic Dysplasia	RCV000333349	MedGen;Orphanet	C0265278;ORPHA93437	criteria provided, single submitter	tagSNP	rs886063909
Clinvar_Rec_1927	rs746449874	Uncertain significance	GNE myopathy;Sialuria	RCV000701009;RCV000701009	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1853926;605820;ORPHA602;MedGen;269921;ORPHA3166;238051008	criteria provided, single submitter	tagSNP	rs746449874
Clinvar_Rec_1928	rs587782937	Uncertain significance	Cardiomyopathy	RCV000143879	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	no assertion criteria provided	tagSNP	rs587782937
Clinvar_Rec_1929	rs12954874	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000291000;RCV000614345;RCV000775999;RCV000253441;RCV000845337;RCV000039403	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen;610476;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12954874
Clinvar_Rec_1930	rs1060502865	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 10	RCV000464239	MedGen;OMIM	C1857777;610193	criteria provided, single submitter	tagSNP	rs1060502865
Clinvar_Rec_1931	rs760135423	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 10	RCV000469010	MedGen;OMIM	C1857777;610193	criteria provided, single submitter	tagSNP	rs760135423
Clinvar_Rec_1932	rs756912703	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 10;Dilated Cardiomyopathy, Dominant	RCV000304243;RCV000804791;RCV000265529	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	C0349788;ORPHA247;253528005;281170005;MedGen;610193;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756912703
Clinvar_Rec_1933	rs201845396	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000771964;RCV000619941;RCV000642333;RCV000219803	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201845396
Clinvar_Rec_1934	rs1042769	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;not specified	RCV000371577;RCV000775997;RCV000248706;RCV000351862;RCV000037287	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1042769
Clinvar_Rec_1935	rs200691513	Benign	Cardiomyopathy;not specified	RCV000769515;RCV000172747	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200691513
Clinvar_Rec_1936	rs775091459	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 10	RCV000692519	MedGen;OMIM	C1857777;610193	criteria provided, single submitter	tagSNP	rs775091459
Clinvar_Rec_1937	rs886053721	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Dilated Cardiomyopathy, Dominant	RCV000378856;RCV000324108	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen	criteria provided, single submitter	tagSNP	rs886053721
Clinvar_Rec_1938	rs1555742500	Pathogenic	Bainbridge-Ropers syndrome;Inborn genetic diseases;not provided	RCV000059323;RCV000624407;RCV000509280	MedGen;OMIM;Orphanet;MedGen	C3809650;615485;ORPHA352577;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555742500
Clinvar_Rec_1939	rs1555744086	Pathogenic	Bainbridge-Ropers syndrome	RCV000624924	MedGen;OMIM;Orphanet	C3809650;615485;ORPHA352577	no assertion criteria provided	tagSNP	rs1555744086
Clinvar_Rec_1940	rs1555826918	Uncertain significance	Left ventricular noncompaction 1	RCV000642687	MedGen;OMIM	C1858725;604169	criteria provided, single submitter	tagSNP	rs1555826918
Clinvar_Rec_1941	rs886062729	Uncertain significance	Intellectual Disability, Recessive	RCV000368886	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs886062729
Clinvar_Rec_1942	rs3735801	Benign	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not specified	RCV000715299;RCV000322051;RCV000118680	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3735801
Clinvar_Rec_1943	rs3735801	Benign	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not specified	RCV000715274;RCV000384914;RCV000118681	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3735802
Clinvar_Rec_1944	rs1057519052	Likely pathogenic	Hirschsprung disease 1	RCV000416370	MedGen;OMIM	C3888239;142623	no assertion criteria provided	tagSNP	rs1057519052
Clinvar_Rec_1945	rs587702418	Likely benign	Corticosterone methyloxidase type 1 deficiency;Corticosterone methyloxidase type 2 deficiency;Hyperaldosteronism, familial, type I	RCV000330960;RCV000370449;RCV000275819	MedGen;OMIM;OMIM;OMIM;Orphanet	CN074214;203400;MedGen;610600;MedGen;103900;ORPHA403	criteria provided, single submitter	LD derived	rs562670189
Clinvar_Rec_1946	rs570844951	Benign/Likely benign	Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I;not provided;not specified	RCV000325754;RCV000277689;RCV000877389;RCV000499909	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0001627;ORPHA418;237751000;MedGen;103900;ORPHA403;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs151335623
Clinvar_Rec_1947	rs534377732	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000530445;RCV000530445;RCV000530445;RCV000530445;RCV000281787	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs202037264
Clinvar_Rec_1948	rs560776993	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified	RCV000648566;RCV000648566;RCV000648566;RCV000648566;RCV000727788;RCV000497742	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201922111
Clinvar_Rec_1949	rs529202395	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV001068428;RCV001068428;RCV001068428;RCV001068428;RCV000483591	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs373846942
Clinvar_Rec_1950	rs137854439	Pathogenic	Amelogenesis imperfecta, hypocalcification type	RCV000000810	MedGen;OMIM;Orphanet;SNOMED CT	C0399376;130900;ORPHA100032;109471001	no assertion criteria provided	tagSNP	rs137854439
Clinvar_Rec_1951	rs1563818514	Pathogenic	Verheij syndrome	RCV000735801	MedGen;OMIM;Orphanet	C3810023;615583;ORPHA508488	no assertion criteria provided	tagSNP	rs1563818514
Clinvar_Rec_1952	rs548952593	Conflicting interpretations of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified	RCV000648492;RCV000648492;RCV000648492;RCV000648492;RCV000417594	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, conflicting interpretations	LD derived	rs201041690
Clinvar_Rec_1953	rs572291032	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000526531;RCV000526531;RCV000526531;RCV000526531;RCV000999082	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200668859
Clinvar_Rec_1954	rs536513369	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000526531;RCV000526531;RCV000526531;RCV000526531;RCV000999082	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200668859
Clinvar_Rec_1955	rs782537151	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV001048671;RCV001048671;RCV001048671;RCV001048671;RCV000733494	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782537151
Clinvar_Rec_1956	rs782578468	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000546785;RCV000546785;RCV000546785;RCV000546785	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs782578468
Clinvar_Rec_1957	rs782578468	Likely benign	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000576195;RCV000576195;RCV000576195;RCV000576195	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs782578468
Clinvar_Rec_1958	rs58308209	Benign	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified	RCV000559616;RCV000559616;RCV000559616;RCV000559616;RCV000712764;RCV000117981	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs58308209
Clinvar_Rec_1959	rs782732824	Conflicting interpretations of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified	RCV000648676;RCV000648676;RCV000648676;RCV000648676;RCV000731027;RCV000602974	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, conflicting interpretations	tagSNP	rs782732824
Clinvar_Rec_1960	rs782060299	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000648556;RCV000648556;RCV000648556;RCV000648556	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs782060299
Clinvar_Rec_1961	rs181231176	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000551440;RCV000551440;RCV000551440;RCV000551440	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	LD derived	rs191154069
Clinvar_Rec_1962	rs782412083	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000694701;RCV000694701;RCV000694701;RCV000694701;RCV000729148	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782412083
Clinvar_Rec_1963	rs1554707677	Likely benign	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000549062;RCV000549062;RCV000549062;RCV000549062	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs1554707677
Clinvar_Rec_1964	rs558327468	Conflicting interpretations of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified	RCV000547493;RCV000547493;RCV000547493;RCV000547493;RCV000434185	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, conflicting interpretations	LD derived	rs535089650
Clinvar_Rec_1965	rs587777041	Pathogenic	Mitochondrial complex III deficiency, nuclear type 6	RCV000056262	MedGen;OMIM	C3809553;615453	no assertion criteria provided	tagSNP	rs587777041
Clinvar_Rec_1966	rs1330914046	Uncertain significance	Brown-Vialetto-Van Laere syndrome 2	RCV000650468	MedGen;OMIM	C3553538;614707	criteria provided, single submitter	tagSNP	rs1330914046
Clinvar_Rec_1967	rs1554854664	Uncertain significance	Brown-Vialetto-Van Laere syndrome 2	RCV000699870	MedGen;OMIM	C3553538;614707	criteria provided, single submitter	tagSNP	rs1554854664
Clinvar_Rec_1968	rs1446094881	Uncertain significance	Baller-Gerold syndrome	RCV000707440	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1446094881
Clinvar_Rec_1969	rs1431803679	Uncertain significance	Baller-Gerold syndrome	RCV000634339	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1431803679
Clinvar_Rec_1970	rs746656592	Uncertain significance	Baller-Gerold syndrome	RCV000634242	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs746656592
Clinvar_Rec_1971	rs1176326208	Uncertain significance	Baller-Gerold syndrome	RCV000634265	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1176326208
Clinvar_Rec_1972	rs759912361	Uncertain significance	Baller-Gerold syndrome	RCV000560600	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs759912361
Clinvar_Rec_1973	rs771538008	Pathogenic	Baller-Gerold syndrome;not provided	RCV000227479;RCV000599050	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771538008
Clinvar_Rec_1974	rs386833852	Pathogenic	Baller-Gerold syndrome;Rapadilino syndrome	RCV000543467;RCV000049820	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0265308;218600;ORPHA1225;77608001;MedGen;266280;ORPHA3021	criteria provided, single submitter	tagSNP	rs386833852
Clinvar_Rec_1975	rs1060501363	Uncertain significance	Baller-Gerold syndrome	RCV000461977	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1060501363
Clinvar_Rec_1976	rs33972310	Uncertain significance	Baller-Gerold syndrome	RCV000550219	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs33972310
Clinvar_Rec_1977	rs753044583	Uncertain significance	Baller-Gerold syndrome	RCV000529569	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs753044583
Clinvar_Rec_1978	rs371327041	Uncertain significance	Baller-Gerold syndrome	RCV000553775	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs371327041
Clinvar_Rec_1979	rs1317677692	Uncertain significance	Baller-Gerold syndrome	RCV000634218	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1317677692
Clinvar_Rec_1980	rs752729755	Pathogenic	Baller-Gerold syndrome;Rothmund-Thomson syndrome type 2	RCV000527990;RCV000006436	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0265308;218600;ORPHA1225;77608001;MedGen;268400;ORPHA221016	criteria provided, single submitter	tagSNP	rs752729755
Clinvar_Rec_1981	rs754324912	Uncertain significance	Baller-Gerold syndrome	RCV000229569	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs754324912
Clinvar_Rec_1982	rs370432468	Uncertain significance	Baller-Gerold syndrome	RCV000467038	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs370432468
Clinvar_Rec_1983	rs371519199	Uncertain significance	Baller-Gerold syndrome	RCV000474948	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs371519199
Clinvar_Rec_1984	rs371519199	Uncertain significance	Baller-Gerold syndrome	RCV000476444	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	LD derived	rs370125881
Clinvar_Rec_1985	rs901313954	Uncertain significance	Baller-Gerold syndrome	RCV000476657	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs901313954
Clinvar_Rec_1986	rs901313954	Uncertain significance	Baller-Gerold syndrome	RCV000706546	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs901313954
Clinvar_Rec_1987	rs34134064	Pathogenic	Baller-Gerold syndrome	RCV000539216	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs34134064
Clinvar_Rec_1988	rs747324399	Likely benign	Baller-Gerold syndrome	RCV000527575	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs747324399
Clinvar_Rec_1989	rs915773238	Uncertain significance	Baller-Gerold syndrome	RCV000693399	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs915773238
Clinvar_Rec_1990	rs746200109	Uncertain significance	Baller-Gerold syndrome	RCV000634300	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs746200109
Clinvar_Rec_1991	rs34700133	Uncertain significance	Baller-Gerold syndrome	RCV000232852	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs34700133
Clinvar_Rec_1992	rs750451940	Uncertain significance	Baller-Gerold syndrome	RCV000634293	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs750451940
Clinvar_Rec_1993	rs948891282	Likely benign	Baller-Gerold syndrome	RCV000526757	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs948891282
Clinvar_Rec_1994	rs948891282	Likely benign	Baller-Gerold syndrome	RCV000634373	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs948891282
Clinvar_Rec_1995	rs200970885	Likely benign	Baller-Gerold syndrome	RCV000528557	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	LD derived	rs547042284
Clinvar_Rec_1996	rs534691612	Uncertain significance	Baller-Gerold syndrome	RCV000234625	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	LD derived	rs540601452
Clinvar_Rec_1997	rs570865840	Likely benign	Familial exudative vitreoretinopathy	RCV000365472	MeSH;MedGen;Orphanet	C580083;C0339539;ORPHA891	criteria provided, single submitter	tagSNP	rs570865840
Clinvar_Rec_1998	rs545129654	Likely benign	Familial exudative vitreoretinopathy	RCV000370907	MeSH;MedGen;Orphanet	C580083;C0339539;ORPHA891	criteria provided, single submitter	tagSNP	rs545129654
Clinvar_Rec_1999	rs1290433563	Uncertain significance	Melanoma, cutaneous malignant, susceptibility to, 10	RCV000692661	MedGen;OMIM	C4014476;615848	criteria provided, single submitter	tagSNP	rs1290433563
Clinvar_Rec_2000	rs138663492	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not provided	RCV000649142;RCV000649142;RCV000649142;RCV000649142;RCV000416211	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138663492
Clinvar_Rec_2001	rs786205092	Pathogenic	Deficiency of bisphosphoglycerate mutase	RCV000012873	MedGen;OMIM;Orphanet;SNOMED CT	C1291620;222800;ORPHA714;124678007	no assertion criteria provided	tagSNP	rs786205092
Clinvar_Rec_2002	rs34678569	Benign/Likely benign	Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not provided;not specified	RCV000386816;RCV000292284;RCV000440904;RCV000118130	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0796063;251255;ORPHA313795;MedGen;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34678569
Clinvar_Rec_2003	rs139743319	Conflicting interpretations of pathogenicity	Microcephaly with mental retardation and digital anomalies;Seckel syndrome;not provided;not specified	RCV000309007;RCV000404394;RCV000118131;RCV000612150	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0796063;251255;ORPHA313795;MedGen;ORPHA808;57917004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139743319
Clinvar_Rec_2004	rs886053664	Uncertain significance	Niemann-Pick disease, type C	RCV000280022	MedGen;Orphanet;SNOMED CT	C0220756;ORPHA646;66751000	criteria provided, single submitter	tagSNP	rs886053664
Clinvar_Rec_2005	rs549860351	Uncertain significance	Niemann-Pick disease type C1;not provided	RCV000765409;RCV000329957	MedGen;OMIM	C3179455;257220;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs111256741
Clinvar_Rec_2006	rs746205437	Uncertain significance	Common variable immunodeficiency 8, with autoimmunity	RCV000695778	MedGen;OMIM;Orphanet	C3553512;614700;ORPHA445018	criteria provided, single submitter	tagSNP	rs746205437
Clinvar_Rec_2007	rs146686472	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2R;not provided	RCV000550100;RCV000512807	MedGen;OMIM	C3809655;615490;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146686472
Clinvar_Rec_2008	rs587777761	Pathogenic	Familial visceral amyloidosis, Ostertag type	RCV000017870	MedGen;OMIM;Orphanet;SNOMED CT	C0268389;105200;ORPHA85450;66451004	no assertion criteria provided	tagSNP	rs587777761
Clinvar_Rec_2009	rs200203992	Benign/Likely benign	Afibrinogenemia, congenital;Familial visceral amyloidosis, Ostertag type;not provided	RCV000307705;RCV000268329;RCV000973688	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C2584774;202400;ORPHA98880;MedGen;105200;ORPHA85450;66451004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200203992
Clinvar_Rec_2010	rs560732073	Uncertain significance	Afibrinogenemia, congenital;Familial visceral amyloidosis, Ostertag type	RCV000279650;RCV000371491	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C2584774;202400;ORPHA98880;MedGen;105200;ORPHA85450;66451004	criteria provided, single submitter	tagSNP	rs560732073
Clinvar_Rec_2011	rs121913092	other	FIBRINOGEN NAGOYA 1	RCV000017788	-	-	no assertion criteria provided	tagSNP	rs121913092
Clinvar_Rec_2012	rs747900628	Uncertain significance	Leber congenital amaurosis;Retinal dystrophy;Retinitis Pigmentosa, Recessive	RCV000293647;RCV000387959;RCV000333433	MeSH;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs747900628
Clinvar_Rec_2013	rs558005496	Pathogenic	Glutaric aciduria, type 2	RCV001053110	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006	criteria provided, single submitter	tagSNP	rs558005496
Clinvar_Rec_2014	rs143015234	Conflicting interpretations of pathogenicity	Glutaric aciduria, type 2;not provided;not specified	RCV000370319;RCV000676848;RCV000605772	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143015234
Clinvar_Rec_2015	rs1060499589	Uncertain significance	Bosch-Boonstra-Schaaf optic atrophy syndrome	RCV000477887	MedGen;OMIM;Orphanet	C3810363;615722;ORPHA401777	no assertion criteria provided	tagSNP	rs1060499589
Clinvar_Rec_2016	rs189138644	Conflicting interpretations of pathogenicity	Choreoacanthocytosis;not provided	RCV000268760;RCV000862936	MedGen;OMIM;Orphanet	C0393576;200150;ORPHA2388;MedGen	criteria provided, conflicting interpretations	tagSNP	rs189138644
Clinvar_Rec_2017	rs1057515673	Uncertain significance	Phosphoserine aminotransferase deficiency	RCV000389510	MedGen;OMIM;Orphanet	C1970253;610992;ORPHA284417	criteria provided, single submitter	tagSNP	rs1057515673
Clinvar_Rec_2018	rs41277903	Uncertain significance	Phosphoserine aminotransferase deficiency	RCV000291875	MedGen;OMIM;Orphanet	C1970253;610992;ORPHA284417	criteria provided, single submitter	tagSNP	rs41277903
Clinvar_Rec_2019	rs1564062144	Likely pathogenic	AU-KLINE SYNDROME	RCV000761597	MedGen;OMIM;Orphanet	C4225274;616580;ORPHA453499	criteria provided, single submitter	tagSNP	rs1564062144
Clinvar_Rec_2020	rs886060530	Uncertain significance	Alpha-methylacyl-CoA racemase deficiency	RCV000390294	MedGen;OMIM;Orphanet	C3280428;614307;ORPHA79095	criteria provided, single submitter	tagSNP	rs886060530
Clinvar_Rec_2021	rs143596606	Uncertain significance	Severe Combined Immune Deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not provided	RCV000385194;RCV000640054;RCV000788267	MedGen;OMIM;Orphanet;Orphanet	CN239264;MedGen;608971;ORPHA169154;ORPHA169157;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143596606
Clinvar_Rec_2022	rs141919625	Uncertain significance	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified	RCV000640053;RCV000121229	MedGen;OMIM;Orphanet;Orphanet	C1837028;608971;ORPHA169154;ORPHA169157;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141919625
Clinvar_Rec_2023	rs886060537	Uncertain significance	Severe Combined Immune Deficiency	RCV000364618	MedGen	CN239264	criteria provided, single submitter	tagSNP	rs886060537
Clinvar_Rec_2024	rs10063294	Benign	Severe Combined Immune Deficiency	RCV000272216	MedGen	CN239264	criteria provided, single submitter	tagSNP	rs10063294
Clinvar_Rec_2025	rs10491434	Benign	Severe Combined Immune Deficiency	RCV000293662	MedGen	CN239264	criteria provided, single submitter	tagSNP	rs10491434
Clinvar_Rec_2026	rs182194574	Likely benign	Episodic ataxia	RCV000340156	Human Phenotype Ontology;MedGen;Orphanet	HP;C1720189;ORPHA211062	criteria provided, single submitter	tagSNP	rs182194574
Clinvar_Rec_2027	rs56129258	Likely benign	Episodic ataxia	RCV000395003	Human Phenotype Ontology;MedGen;Orphanet	HP;C1720189;ORPHA211062	criteria provided, single submitter	tagSNP	rs56129258
Clinvar_Rec_2028	rs587784042	Pathogenic	Cornelia de Lange syndrome 1	RCV000146724	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs587784042
Clinvar_Rec_2029	rs746183321	Uncertain significance	Cornelia de Lange Syndrome	RCV000367940	MedGen	CN239271	criteria provided, single submitter	tagSNP	rs746183321
Clinvar_Rec_2030	rs1057518944	Likely pathogenic	Congenital diaphragmatic hernia;Cryptorchidism;Hypospadias, penile;Intrauterine growth retardation;Long philtrum;Microretrognathia;Pulmonary hypoplasia;Right ventricular hypertrophy;Single umbilical artery	RCV000414869;RCV000414869;RCV000414869;RCV000414869;RCV000414869;RCV000414869;RCV000414869;RCV000414869;RCV000414869	Gene;Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;MedGen;SNOMED CT;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	1732;HP;D065630;C0235833;142340;ORPHA2140;Human Phenotype Ontology;C0010417;219050;Human Phenotype Ontology;C1691215;204888000;Human Phenotype Ontology;C1386048;Human Phenotype Ontology;C1865014;Human Phenotype Ontology;C1839546;Human Phenotype Ontology;C0265783;Human Phenotype Ontology;C0162770;Human Phenotype Ontology;C1384670	criteria provided, single submitter	tagSNP	rs1057518944
Clinvar_Rec_2031	rs141851878	Likely benign	History of neurodevelopmental disorder	RCV000718356	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs141851878
Clinvar_Rec_2032	rs376912534	Likely benign	History of neurodevelopmental disorder	RCV000718244	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs376912534
Clinvar_Rec_2033	rs1554017345	Pathogenic	Cornelia de Lange syndrome 1	RCV000503495	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs1554017345
Clinvar_Rec_2034	rs797045751	Pathogenic	Cornelia de Lange syndrome 1	RCV000194656	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs797045751
Clinvar_Rec_2035	rs201163469	Uncertain significance	History of neurodevelopmental disorder	RCV000718579	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs201163469
Clinvar_Rec_2036	rs376637245	Likely benign	History of neurodevelopmental disorder;not specified	RCV000715800;RCV000146554	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376637245
Clinvar_Rec_2037	rs587783915	Uncertain significance	Cornelia de Lange syndrome 1	RCV000146564	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs587783915
Clinvar_Rec_2038	rs1561231553	Pathogenic	Cornelia de Lange syndrome 1	RCV000002230	MedGen;OMIM	C4551851;122470	no assertion criteria provided	tagSNP	rs1561231553
Clinvar_Rec_2039	rs200332492	Conflicting interpretations of pathogenicity	Joubert syndrome;not specified	RCV000311369;RCV000242809	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200332492
Clinvar_Rec_2040	rs141014620	Conflicting interpretations of pathogenicity	Joubert syndrome;not provided	RCV000356553;RCV000535974	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141014620
Clinvar_Rec_2041	rs1381740657	Conflicting interpretations of pathogenicity	Joubert syndrome 17;Joubert syndrome 17	RCV000700801;RCV000778765	MedGen;OMIM;OMIM	C3553264;614615;MedGen;614615	criteria provided, conflicting interpretations	tagSNP	rs1381740657
Clinvar_Rec_2042	rs751890710	Uncertain significance	Joubert syndrome	RCV000355011	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs751890710
Clinvar_Rec_2043	rs143084362	Conflicting interpretations of pathogenicity	Joubert syndrome;not provided	RCV000394150;RCV000951527	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143084362
Clinvar_Rec_2044	rs183021118	Uncertain significance	Joubert syndrome;not provided	RCV000366707;RCV000703873	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs183021118
Clinvar_Rec_2045	rs530569572	Pathogenic	Joubert syndrome 17;not provided	RCV000201692;RCV000523063	MedGen;OMIM	C3553264;614615;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs530569572
Clinvar_Rec_2046	rs886060583	Uncertain significance	Joubert syndrome	RCV000270620	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs886060583
Clinvar_Rec_2047	rs217854	Benign/Likely benign	Joubert syndrome;not provided;not specified	RCV000288637;RCV000535331;RCV000145367	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73750949
Clinvar_Rec_2048	rs217854	Benign/Likely benign	Joubert syndrome;Joubert syndrome 17;not specified	RCV000292619;RCV000557462;RCV000145360	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;614615;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73750958
Clinvar_Rec_2049	rs217854	Benign/Likely benign	Joubert syndrome;Joubert syndrome 17;not specified	RCV000404490;RCV000525253;RCV000145390	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;614615;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73750959
Clinvar_Rec_2050	rs104893891	risk factor	Hirschsprung disease 3	RCV000009305	MedGen;OMIM	C3150974;613711	no assertion criteria provided	tagSNP	rs104893891
Clinvar_Rec_2051	rs113730751	Uncertain significance	Stüve-Wiedemann syndrome	RCV000393614	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	LD derived	rs112458059
Clinvar_Rec_2052	rs113730751	Conflicting interpretations of pathogenicity	Stüve-Wiedemann syndrome;not provided;not specified	RCV000353300;RCV000974200;RCV000728402	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206;MedGen	criteria provided, conflicting interpretations	LD derived	rs113078097
Clinvar_Rec_2053	rs754371834	Uncertain significance	Stüve-Wiedemann syndrome	RCV000381207	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	tagSNP	rs754371834
Clinvar_Rec_2054	rs886060626	Uncertain significance	Stüve-Wiedemann syndrome	RCV000291427	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	tagSNP	rs886060626
Clinvar_Rec_2055	rs73749278	Likely benign	Stüve-Wiedemann syndrome	RCV000291888	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	LD derived	rs55917124
Clinvar_Rec_2056	rs73749278	Likely benign	Stüve-Wiedemann syndrome	RCV000376971	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	LD derived	rs1428604
Clinvar_Rec_2057	rs886060635	Uncertain significance	Succinyl-CoA acetoacetate transferase deficiency	RCV000361505	MedGen;OMIM;Orphanet;SNOMED CT	C0342792;245050;ORPHA832;238004006	criteria provided, single submitter	tagSNP	rs886060635
Clinvar_Rec_2058	rs2972999	Benign	Familial hypercholesterolemia 1;Laron-type isolated somatotropin defect;not specified	RCV000009190;RCV000392579;RCV000173652	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0745103;143890;397915002;MedGen;262500;ORPHA633;38196001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6180
Clinvar_Rec_2059	rs2972999	Benign	Laron-type isolated somatotropin defect	RCV000260935	MedGen;OMIM;Orphanet;SNOMED CT	C0271568;262500;ORPHA633;38196001	criteria provided, single submitter	LD derived	rs2910875
Clinvar_Rec_2060	rs370273690	Pathogenic	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	RCV000029197	MedGen;OMIM	C3553587;614736	no assertion criteria provided	tagSNP	rs370273690
Clinvar_Rec_2061	rs2290070	Benign	Congenital absence of salivary gland;Levy-Hollister syndrome	RCV000312899;RCV000407769	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0158667;180920;ORPHA86815;22589009;MedGen;149730;ORPHA2363;23817003	criteria provided, single submitter	tagSNP	rs2290070
Clinvar_Rec_2062	rs1554040364	Likely pathogenic	Levy-Hollister syndrome	RCV000659641	MedGen;OMIM;Orphanet;SNOMED CT	C0265269;149730;ORPHA2363;23817003	criteria provided, single submitter	tagSNP	rs1554040364
Clinvar_Rec_2063	rs1555651546	Uncertain significance	Ciliary dyskinesia, primary, 33	RCV000652668	MedGen;OMIM	C4225230;616726	criteria provided, single submitter	tagSNP	rs1555651546
Clinvar_Rec_2064	rs190399764	Likely benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000356437	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	LD derived	rs114005461
Clinvar_Rec_2065	rs190399764	Likely benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000291725	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	LD derived	rs61124994
Clinvar_Rec_2066	rs190399764	Benign/Likely benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified	RCV000295070;RCV000123474	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs59932454
Clinvar_Rec_2067	rs190399764	Benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified	RCV001001381;RCV000077880	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74090724
Clinvar_Rec_2068	rs190399764	Benign/Likely benign	MCAD deficiency, modifier of;Medium-chain acyl-coenzyme A dehydrogenase deficiency;not specified	RCV000003783;RCV000211524;RCV000077887	na;MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74090726
Clinvar_Rec_2069	rs190399764	Likely benign	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000281243	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	LD derived	rs61612438
Clinvar_Rec_2070	rs370608001	Uncertain significance	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	RCV000211446;RCV000353184	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370608001
Clinvar_Rec_2071	rs121434283	Conflicting interpretations of pathogenicity	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	RCV000003782;RCV000185674	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121434283
Clinvar_Rec_2072	rs773677327	Conflicting interpretations of pathogenicity	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	RCV000211463;RCV000755768	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs773677327
Clinvar_Rec_2073	rs138098371	Conflicting interpretations of pathogenicity	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided;not specified	RCV000306099;RCV000727060;RCV000444345	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138098371
Clinvar_Rec_2074	rs1553127399	Uncertain significance	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000673905	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	tagSNP	rs1553127399
Clinvar_Rec_2075	rs7544892	Likely benign	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000353716;RCV000396300	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs3767028
Clinvar_Rec_2076	rs886046529	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000302271;RCV000394778	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs886046529
Clinvar_Rec_2077	rs1557981819	Uncertain significance	Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20	RCV000690402;RCV000690402	MedGen;OMIM;OMIM	C2751084;613122;MedGen;613876	criteria provided, single submitter	tagSNP	rs1557981819
Clinvar_Rec_2078	rs1557988499	Uncertain significance	NEXN-Related Disorders	RCV000778992	-	-	criteria provided, single submitter	tagSNP	rs1557988499
Clinvar_Rec_2079	rs200442502	Uncertain significance	Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not provided	RCV000529099;RCV000529099;RCV000183662	MedGen;OMIM;OMIM	C2751084;613122;MedGen;613876;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200442502
Clinvar_Rec_2080	rs1557996950	Uncertain significance	Cardiomyopathy	RCV000769828	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1557996950
Clinvar_Rec_2081	rs200071700	Likely benign	Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified	RCV000470637;RCV000470637;RCV000157390	MedGen;OMIM;OMIM	C2751084;613122;MedGen;613876;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200071700
Clinvar_Rec_2082	rs766323670	Uncertain significance	Cardiomyopathy	RCV000769829	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs766323670
Clinvar_Rec_2083	rs1557998187	Uncertain significance	Cardiomyopathy	RCV000768807	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1557998187
Clinvar_Rec_2084	rs369019618	Uncertain significance	Cardiovascular phenotype	RCV000619359	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs369019618
Clinvar_Rec_2085	rs182998780	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;not specified	RCV000242332;RCV000474832;RCV000474832;RCV000424808	MedGen;OMIM;OMIM	CN230736;MedGen;613122;MedGen;613876;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs182998780
Clinvar_Rec_2086	rs137853198	Pathogenic	Dilated cardiomyopathy 1CC	RCV000000355	MedGen;OMIM	C2751084;613122	no assertion criteria provided	tagSNP	rs137853198
Clinvar_Rec_2087	rs6424640	Likely benign	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000353716;RCV000396300	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	LD derived	rs3767028
Clinvar_Rec_2088	rs376548563	Conflicting interpretations of pathogenicity	Lissencephaly, Recessive;not provided	RCV000310341;RCV000907275	MedGen	CN239458;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376548563
Clinvar_Rec_2089	rs756206942	Pathogenic	Lissencephaly 4	RCV000023769	MedGen;OMIM	C3151461;614019	criteria provided, single submitter	tagSNP	rs756206942
Clinvar_Rec_2090	rs35246052	Likely benign	Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection	RCV000370477;RCV000311195	MedGen;Orphanet	CN239458;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs12927605
Clinvar_Rec_2091	rs764375446	Uncertain significance	Lissencephaly, Recessive	RCV000396060	MedGen	CN239458	criteria provided, single submitter	tagSNP	rs764375446
Clinvar_Rec_2092	rs113667224	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4;Aortic aneurysm, familial thoracic 6;Cardiovascular phenotype;Connective tissue disease;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000625176;RCV000211551;RCV000617042;RCV000680547;RCV000253974;RCV000182485	MedGen;OMIM;OMIM;Orphanet	C1851504;132900;MedGen;611788;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs113667224
Clinvar_Rec_2093	rs1050162	Benign/Likely benign	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000601977;RCV000622103;RCV000304468;RCV000245108;RCV000146505	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1050162
Clinvar_Rec_2094	rs138059405	Uncertain significance	Cardiovascular phenotype	RCV000620243	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs138059405
Clinvar_Rec_2095	rs138059405	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000239107;RCV000617123;RCV000405397;RCV000244427;RCV000656918	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138059405
Clinvar_Rec_2096	rs534983279	Uncertain significance	Aortic aneurysm, familial thoracic 4;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000705273;RCV000337481;RCV000284825;RCV000507867	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs534983279
Clinvar_Rec_2097	rs146817436	Uncertain significance	Cardiovascular phenotype	RCV000617251	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs146817436
Clinvar_Rec_2098	rs373371913	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4;Connective tissue disease	RCV000543624;RCV000659917	MedGen;OMIM	C1851504;132900;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373371913
Clinvar_Rec_2099	rs113151354	Uncertain significance	Lissencephaly, Recessive	RCV000380757	MedGen	CN239458	criteria provided, single submitter	tagSNP	rs113151354
Clinvar_Rec_2100	rs1555553475	Uncertain significance	Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection	RCV000283023;RCV000377565	MedGen;Orphanet	CN239458;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1555553475
Clinvar_Rec_2101	rs565400287	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000342741	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs565400287
Clinvar_Rec_2102	rs550076836	Benign/Likely benign	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Connective tissue disease;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV001001930;RCV000251540;RCV000659923;RCV000769660;RCV000462973;RCV000126957	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142108062
Clinvar_Rec_2103	rs550076836	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV001000699;RCV000617119;RCV000336390;RCV000241941;RCV000460038;RCV000182472	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	LD derived	rs141159831
Clinvar_Rec_2104	rs79015533	Likely benign	Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection	RCV000279655;RCV000378871	MedGen;Orphanet	CN239458;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs79015533
Clinvar_Rec_2105	rs149894916	Uncertain significance	Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection	RCV000313679;RCV000405724	MedGen;Orphanet	CN239458;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs149894916
Clinvar_Rec_2106	rs1555554044	Uncertain significance	Cardiovascular phenotype	RCV000621256	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555554044
Clinvar_Rec_2107	rs886051827	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000359694	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886051827
Clinvar_Rec_2108	rs756961049	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000330992	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs756961049
Clinvar_Rec_2109	rs1468138	Benign	Combined oxidative phosphorylation deficiency	RCV000354559	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs1468138
Clinvar_Rec_2110	rs1468138	Benign	Combined oxidative phosphorylation deficiency	RCV000363221	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs9707
Clinvar_Rec_2111	rs1468138	Benign	Combined oxidative phosphorylation deficiency	RCV000309655	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs6497669
Clinvar_Rec_2112	rs1468138	Benign	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000273802;RCV000676414;RCV000124861	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6497671
Clinvar_Rec_2113	rs1468138	Benign	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000297010;RCV000676417;RCV000124858	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2073951
Clinvar_Rec_2114	rs2073951	Benign	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000297010;RCV000676417;RCV000124858	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2073951
Clinvar_Rec_2115	rs2073951	Benign	Combined oxidative phosphorylation deficiency	RCV000363221	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs9707
Clinvar_Rec_2116	rs2073951	Benign	Combined oxidative phosphorylation deficiency	RCV000309655	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs6497669
Clinvar_Rec_2117	rs2073951	Benign	Combined oxidative phosphorylation deficiency	RCV000354559	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs1468138
Clinvar_Rec_2118	rs2073951	Benign	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000273802;RCV000676414;RCV000124861	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6497671
Clinvar_Rec_2119	rs1555457841	Pathogenic	Familial cancer of breast	RCV000635687	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555457841
Clinvar_Rec_2120	rs1057523064	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000568402;RCV000460475;RCV000442675	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523064
Clinvar_Rec_2121	rs1057523064	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000476692;RCV001018602	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523064
Clinvar_Rec_2122	rs778705498	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs778705498
Clinvar_Rec_2123	rs1373085553	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773403	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1373085553
Clinvar_Rec_2124	rs368990417	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000470365;RCV000130589	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs368990417
Clinvar_Rec_2125	rs1555460224	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583662	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460224
Clinvar_Rec_2126	rs587776417	Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000707120;RCV001015744	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776417
Clinvar_Rec_2127	rs587776417	Pathogenic/Likely pathogenic, risk factor	Familial cancer of breast;Pancreatic cancer 3;not provided	RCV001030317;RCV000001312;RCV000133479	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;613348;MedGen	no assertion criteria provided	tagSNP	rs587776417
Clinvar_Rec_2128	rs587776417	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000198016;RCV000580827;RCV000985889	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587776417
Clinvar_Rec_2129	rs1555460231	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582208	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460231
Clinvar_Rec_2130	rs780521904	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000771301;RCV000679764	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780521904
Clinvar_Rec_2131	rs1555460298	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000703973;RCV000572503	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555460298
Clinvar_Rec_2132	rs750650768	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001053672;RCV000561038	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs750650768
Clinvar_Rec_2133	rs750650768	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635607;RCV000213341	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs750650768
Clinvar_Rec_2134	rs587778587	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566274	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587778587
Clinvar_Rec_2135	rs587778587	Conflicting interpretations of pathogenicity	Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000989556;RCV000318539;RCV001030647;RCV000116087;RCV000656936;RCV000121758	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587778587
Clinvar_Rec_2136	rs587778587	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided	RCV000227927;RCV000454198;RCV001030314;RCV000235331	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen;613348;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778587
Clinvar_Rec_2137	rs1555460308	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579392	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460308
Clinvar_Rec_2138	rs1567217151	Uncertain significance	Familial cancer of breast	RCV000704597	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567217151
Clinvar_Rec_2139	rs786201885	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000206600;RCV000164395;RCV000859487;RCV000435545	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201885
Clinvar_Rec_2140	rs1567217255	Likely benign	Hereditary cancer-predisposing syndrome	RCV000777340	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567217255
Clinvar_Rec_2141	rs140776736	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001030308;RCV000160818;RCV000590716;RCV000212812	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140776736
Clinvar_Rec_2142	rs753204710	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567979	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs753204710
Clinvar_Rec_2143	rs1060504714	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000568058;RCV000464800	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504714
Clinvar_Rec_2144	rs1060504714	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565782	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060504714
Clinvar_Rec_2145	rs756996540	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582689	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs756996540
Clinvar_Rec_2146	rs1567217364	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772795	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567217364
Clinvar_Rec_2147	rs876659475	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000697289;RCV000218274	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659475
Clinvar_Rec_2148	rs1555460341	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565977	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460341
Clinvar_Rec_2149	rs876659364	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635714;RCV000217062	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659364
Clinvar_Rec_2150	rs1555460348	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563156	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460348
Clinvar_Rec_2151	rs587782765	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000167989;RCV000132292	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782765
Clinvar_Rec_2152	rs1060502768	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000476517;RCV000567346	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502768
Clinvar_Rec_2153	rs1060502748	Pathogenic	Familial cancer of breast	RCV000457054	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502748
Clinvar_Rec_2154	rs730881889	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000460019;RCV001015124;RCV000160842	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881889
Clinvar_Rec_2155	rs764509489	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000819396;RCV000773204	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs764509489
Clinvar_Rec_2156	rs764509489	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000457524;RCV000166057;RCV000480723	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764509489
Clinvar_Rec_2157	rs180177111	Pathogenic	Breast cancer, susceptibility to;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000144702;RCV000114521;RCV000164897;RCV000413982	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C3469522;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs180177111
Clinvar_Rec_2158	rs1567217632	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772532	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567217632
Clinvar_Rec_2159	rs1567217632	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774823	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567217632
Clinvar_Rec_2160	rs1060502770	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000471672;RCV001015017	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1060502770
Clinvar_Rec_2161	rs515726084	Likely benign	Familial cancer of breast	RCV001030296	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs515726084
Clinvar_Rec_2162	rs1312270645	Uncertain significance	Familial cancer of breast	RCV000695964	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1312270645
Clinvar_Rec_2163	rs775456479	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573712	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs775456479
Clinvar_Rec_2164	rs587776416	Pathogenic	Cancer of the pancreas;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	RCV000677893;RCV000123337;RCV000589589;RCV000129400;RCV000677892;RCV000133478	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C0346647;MedGen;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776416
Clinvar_Rec_2165	rs876660336	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000467128;RCV000217611	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660336
Clinvar_Rec_2166	rs876660336	Likely benign	Hereditary cancer-predisposing syndrome	RCV000214669	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660336
Clinvar_Rec_2167	rs768901359	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774633	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768901359
Clinvar_Rec_2168	rs587781105	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000221801;RCV000635963;RCV000127293	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781105
Clinvar_Rec_2169	rs1555460469	Uncertain significance	Familial cancer of breast	RCV000635881	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555460469
Clinvar_Rec_2170	rs1555460469	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777077	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460469
Clinvar_Rec_2171	rs770145849	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000464776;RCV000574979;RCV000236038	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs770145849
Clinvar_Rec_2172	rs376189676	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000215668;RCV000842681	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376189676
Clinvar_Rec_2173	rs71379822	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000559033;RCV000222668	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs71379822
Clinvar_Rec_2174	rs906858995	Uncertain significance	Familial cancer of breast	RCV000685759	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs906858995
Clinvar_Rec_2175	rs1057522241	Uncertain significance	Familial cancer of breast	RCV000551035	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1057522241
Clinvar_Rec_2176	rs1057522241	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571480	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1057522241
Clinvar_Rec_2177	rs1055533509	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581258	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1055533509
Clinvar_Rec_2178	rs1055533509	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000695699;RCV000582747	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1055533509
Clinvar_Rec_2179	rs1555460583	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000692136;RCV000567935;RCV000587201	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555460583
Clinvar_Rec_2180	rs1555460583	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774053	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555460583
Clinvar_Rec_2181	rs876660387	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213359	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660387
Clinvar_Rec_2182	rs756116550	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000989565;RCV000454184;RCV000235273	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs756116550
Clinvar_Rec_2183	rs777940379	Uncertain significance	Familial cancer of breast	RCV000531505	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs777940379
Clinvar_Rec_2184	rs199682414	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000197939;RCV000214157;RCV000858479;RCV000615484	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199682414
Clinvar_Rec_2185	rs779184831	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000801789;RCV000575169;RCV000586706	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs779184831
Clinvar_Rec_2186	rs1057522269	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001013278;RCV000432191	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522269
Clinvar_Rec_2187	rs1555460637	Uncertain significance	Familial cancer of breast	RCV000555346	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555460637
Clinvar_Rec_2188	rs1555461248	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583094	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461248
Clinvar_Rec_2189	rs869025294	Uncertain significance	Familial cancer of breast	RCV000207336	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs869025294
Clinvar_Rec_2190	rs748315431	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000563978;RCV000868026;RCV000429384	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748315431
Clinvar_Rec_2191	rs1555461250	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571892	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461250
Clinvar_Rec_2192	rs75023630	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000466463;RCV000572623	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs75023630
Clinvar_Rec_2193	rs75023630	Conflicting interpretations of pathogenicity	Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000197379;RCV000368837;RCV001030650;RCV000160870;RCV000858743;RCV000200991	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs75023630
Clinvar_Rec_2194	rs753124503	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000685721;RCV000571809;RCV000486346	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753124503
Clinvar_Rec_2195	rs753124503	Uncertain significance	Familial cancer of breast	RCV000703059	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs753124503
Clinvar_Rec_2196	rs515726069	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571212	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs515726069
Clinvar_Rec_2197	rs515726069	Benign	Familial cancer of breast	RCV001030230	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs515726069
Clinvar_Rec_2198	rs566105533	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000574541;RCV000232336;RCV000438747	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs566105533
Clinvar_Rec_2199	rs786202699	Uncertain significance	Carcinoma of colon;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	RCV001030228;RCV000205126;RCV000165637;RCV000507136	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0009402;114500;269533000;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202699
Clinvar_Rec_2200	rs1555461278	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000689768;RCV000561471	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461278
Clinvar_Rec_2201	rs1555461287	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000567168	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461287
Clinvar_Rec_2202	rs1567221020	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000817099;RCV000771646	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567221020
Clinvar_Rec_2203	rs1555461285	Uncertain significance	Familial cancer of breast	RCV000550600	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555461285
Clinvar_Rec_2204	rs886039479	Pathogenic/Likely pathogenic	Familial cancer of breast;not provided	RCV001066196;RCV000255228	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039479
Clinvar_Rec_2205	rs878855100	Likely benign	Familial cancer of breast	RCV000636023	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs878855100
Clinvar_Rec_2206	rs878855100	Uncertain significance	Familial cancer of breast	RCV000228498	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs878855100
Clinvar_Rec_2207	rs786201806	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000693357;RCV000164284;RCV000235242	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201806
Clinvar_Rec_2208	rs867817029	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001037656;RCV000219983	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs867817029
Clinvar_Rec_2209	rs1555461299	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582788	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461299
Clinvar_Rec_2210	rs780026905	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573842;RCV000537302;RCV000611260	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780026905
Clinvar_Rec_2211	rs746805049	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635660;RCV000166131	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs746805049
Clinvar_Rec_2212	rs1555461314	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583925	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461314
Clinvar_Rec_2213	rs515726066	Likely benign	Familial cancer of breast;not provided	RCV001030216;RCV000934777	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, single submitter	tagSNP	rs515726066
Clinvar_Rec_2214	rs537258442	Uncertain significance	Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group N;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided	RCV000167944;RCV000765276;RCV000765276;RCV000565232;RCV000765276;RCV000588409	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;114480;ORPHA227535;254843006;MedGen;610832;MedGen;ORPHA140162;699346009;MedGen;613348;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs537258442
Clinvar_Rec_2215	rs1064794517	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000635753;RCV001010868;RCV000484772	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794517
Clinvar_Rec_2216	rs138697796	Benign/Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000206142;RCV000127308;RCV000859024;RCV000212787	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138697796
Clinvar_Rec_2217	rs45510998	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000114466;RCV000116065;RCV000590540	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45510998
Clinvar_Rec_2218	rs1567221411	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777094	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567221411
Clinvar_Rec_2219	rs1567221417	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000774849	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567221417
Clinvar_Rec_2220	rs976340416	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000567685;RCV000480231	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs976340416
Clinvar_Rec_2221	rs111981798	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000822321;RCV000570839	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs111981798
Clinvar_Rec_2222	rs876659751	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000459883;RCV000220824;RCV000679759	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659751
Clinvar_Rec_2223	rs515726060	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000470398;RCV000129806;RCV000483096	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs515726060
Clinvar_Rec_2224	rs1555461480	Likely benign	Familial cancer of breast	RCV000560884	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555461480
Clinvar_Rec_2225	rs876658656	Uncertain significance	Familial cancer of breast;not provided	RCV000706974;RCV000481668	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658656
Clinvar_Rec_2226	rs876658656	Uncertain significance	Familial cancer of breast	RCV000543661	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs876658656
Clinvar_Rec_2227	rs876658656	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000531194;RCV000218423	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658656
Clinvar_Rec_2228	rs1555461483	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572475	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461483
Clinvar_Rec_2229	rs375699023	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000232741;RCV000130172;RCV000589687	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375699023
Clinvar_Rec_2230	rs375699023	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000409735;RCV000416712;RCV000568484;RCV000255651	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375699023
Clinvar_Rec_2231	rs1555461486	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582730	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461486
Clinvar_Rec_2232	rs1485260432	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000690752;RCV000570666	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1485260432
Clinvar_Rec_2233	rs1567221791	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001049305;RCV000776346	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567221791
Clinvar_Rec_2234	rs786203211	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166424	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203211
Clinvar_Rec_2235	rs1555461502	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000573428	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461502
Clinvar_Rec_2236	rs1060502774	Uncertain significance	Familial cancer of breast	RCV000471766	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502774
Clinvar_Rec_2237	rs1060502774	Uncertain significance	Familial cancer of breast;not provided	RCV000701789;RCV000985881	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502774
Clinvar_Rec_2238	rs1567221866	Uncertain significance	Familial cancer of breast	RCV000685532	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567221866
Clinvar_Rec_2239	rs760362870	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000411791;RCV000166544;RCV000859893	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760362870
Clinvar_Rec_2240	rs878855126	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000226576;RCV000568702	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs878855126
Clinvar_Rec_2241	rs1060502800	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000472709;RCV000775927	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502800
Clinvar_Rec_2242	rs878855125	Uncertain significance	Familial cancer of breast	RCV000231531	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs878855125
Clinvar_Rec_2243	rs1555461553	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000565598	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461553
Clinvar_Rec_2244	rs763726703	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568197	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763726703
Clinvar_Rec_2245	rs1060502765	Uncertain significance	Familial cancer of breast	RCV000474350	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502765
Clinvar_Rec_2246	rs1060502765	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000551680;RCV000563746	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1060502765
Clinvar_Rec_2247	rs751882053	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635759;RCV001017739	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs751882053
Clinvar_Rec_2248	rs751882053	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000198379;RCV000454145	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs751882053
Clinvar_Rec_2249	rs375258299	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000537730;RCV000774640	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs375258299
Clinvar_Rec_2250	rs1555461597	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000573816;RCV001030181	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs1555461597
Clinvar_Rec_2251	rs1567222209	Uncertain significance	Familial cancer of breast	RCV000689373	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567222209
Clinvar_Rec_2252	rs1555461602	Likely pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000590429	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555461602
Clinvar_Rec_2253	rs1567222260	Uncertain significance	Familial cancer of breast	RCV000704500	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567222260
Clinvar_Rec_2254	rs1060502743	Uncertain significance	Familial cancer of breast	RCV000461747	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502743
Clinvar_Rec_2255	rs863224791	Uncertain significance	Familial cancer of breast	RCV000196503	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs863224791
Clinvar_Rec_2256	rs1567222424	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773144	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567222424
Clinvar_Rec_2257	rs572102702	Uncertain significance	Familial cancer of breast;not provided	RCV000635771;RCV000478004	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs572102702
Clinvar_Rec_2258	rs876659328	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000810472;RCV000217719;RCV000657496	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659328
Clinvar_Rec_2259	rs1567222580	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000777067	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567222580
Clinvar_Rec_2260	rs45594034	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000114652;RCV000129603;RCV000589693;RCV000855601	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45594034
Clinvar_Rec_2261	rs1555461694	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562571	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461694
Clinvar_Rec_2262	rs1555461695	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000810538;RCV000573531	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461695
Clinvar_Rec_2263	rs786203875	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635925;RCV000167372	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203875
Clinvar_Rec_2264	rs1060502742	Uncertain significance	Familial cancer of breast	RCV000466962	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502742
Clinvar_Rec_2265	rs748128739	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000559401;RCV000581161	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs748128739
Clinvar_Rec_2266	rs769647912	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000686735;RCV000569806	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs769647912
Clinvar_Rec_2267	rs1060502790	Uncertain significance	Familial cancer of breast	RCV000476599	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502790
Clinvar_Rec_2268	rs367945485	Uncertain significance	Familial cancer of breast	RCV000705972	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs367945485
Clinvar_Rec_2269	rs875989790	Likely pathogenic	Familial cancer of breast	RCV000211071	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs875989790
Clinvar_Rec_2270	rs876659823	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000222826;RCV001030159	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs876659823
Clinvar_Rec_2271	rs1211622922	Uncertain significance	Familial cancer of breast	RCV000635817	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1211622922
Clinvar_Rec_2272	rs1555461747	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567061;RCV000529109;RCV000611458	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461747
Clinvar_Rec_2273	rs1555461765	Pathogenic	Familial cancer of breast	RCV000552754	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555461765
Clinvar_Rec_2274	rs1251724216	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574703;RCV000635964	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1251724216
Clinvar_Rec_2275	rs745533713	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000799725;RCV000454359;RCV000255562	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745533713
Clinvar_Rec_2276	rs748042783	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776647	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs748042783
Clinvar_Rec_2277	rs769841151	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000817677;RCV000566918	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs769841151
Clinvar_Rec_2278	rs1057522196	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000569273;RCV000874635;RCV000436997	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522196
Clinvar_Rec_2279	rs1567222943	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000705480;RCV000774810	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567222943
Clinvar_Rec_2280	rs730881881	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000227552;RCV000454193;RCV000587887	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881881
Clinvar_Rec_2281	rs180177085	Pathogenic	Familial cancer of breast;Fanconi anemia, complementation group N;Hereditary cancer-predisposing syndrome	RCV000700247;RCV001030150;RCV001021525	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;610832;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs180177085
Clinvar_Rec_2282	rs1555461807	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575712	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461807
Clinvar_Rec_2283	rs864622461	Uncertain significance	Familial cancer of breast	RCV000205247	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs864622461
Clinvar_Rec_2284	rs863224789	Uncertain significance	Familial cancer of breast;not provided	RCV000199860;RCV001030147	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, single submitter	tagSNP	rs863224789
Clinvar_Rec_2285	rs1056494105	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001021174;RCV000759189	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1056494105
Clinvar_Rec_2286	rs1555461816	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000583847;RCV000967620	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461816
Clinvar_Rec_2287	rs1555461831	Uncertain significance	Familial cancer of breast	RCV000635678	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555461831
Clinvar_Rec_2288	rs515726108	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000114600;RCV000116099;RCV000212773	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs515726108
Clinvar_Rec_2289	rs1555461850	Likely benign	Familial cancer of breast;not provided	RCV000545630;RCV000996242	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461850
Clinvar_Rec_2290	rs1567223192	Pathogenic	Familial cancer of breast	RCV000691368	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567223192
Clinvar_Rec_2291	rs763378141	Likely benign	Familial cancer of breast	RCV000635996	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs763378141
Clinvar_Rec_2292	rs1060502775	Uncertain significance	Familial cancer of breast	RCV000457618	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502775
Clinvar_Rec_2293	rs1060502775	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001030136;RCV000773983	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060502775
Clinvar_Rec_2294	rs1313634930	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001044744;RCV000575076	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1313634930
Clinvar_Rec_2295	rs1555461868	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000562722	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555461868
Clinvar_Rec_2296	rs515726085	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000114522;RCV000116083;RCV000587015;RCV000212771	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs515726085
Clinvar_Rec_2297	rs1567223972	Uncertain significance	Familial cancer of breast	RCV000691964	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567223972
Clinvar_Rec_2298	rs1064793772	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772804	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1064793772
Clinvar_Rec_2299	rs1567224004	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001035370;RCV000772805	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567224004
Clinvar_Rec_2300	rs763598472	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000205692;RCV000221595;RCV000656934;RCV000236334	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763598472
Clinvar_Rec_2301	rs199979207	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000270904	MedGen	CN239251	criteria provided, single submitter	tagSNP	rs199979207
Clinvar_Rec_2302	rs150986176	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Neuronal ceroid lipofuscinosis;not provided	RCV000316657;RCV000560850;RCV000482097	MedGen;OMIM;Orphanet;SNOMED CT	CN239251;MedGen;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150986176
Clinvar_Rec_2303	rs777783441	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000687021	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs777783441
Clinvar_Rec_2304	rs770460630	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000706584	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs770460630
Clinvar_Rec_2305	rs750088530	Pathogenic	Ehlers-Danlos syndrome, progeroid type, 2	RCV000054396	MedGen;OMIM;Orphanet	C3809210;615349;ORPHA536467	no assertion criteria provided	tagSNP	rs750088530
Clinvar_Rec_2306	rs397514721	Pathogenic	Ehlers-Danlos syndrome, progeroid type, 2	RCV000054397	MedGen;OMIM;Orphanet	C3809210;615349;ORPHA536467	no assertion criteria provided	tagSNP	rs397514721
Clinvar_Rec_2307	rs554845883	Uncertain significance	Harel-Yoon syndrome	RCV000714870	MedGen;OMIM;Orphanet	C4310677;617183;ORPHA496790	criteria provided, single submitter	LD derived	rs574343682
Clinvar_Rec_2308	rs878854599	Uncertain significance	Shprintzen-Goldberg syndrome	RCV000234052	MedGen;OMIM;Orphanet;SNOMED CT	C1321551;182212;ORPHA2462;83092002	criteria provided, single submitter	tagSNP	rs878854599
Clinvar_Rec_2309	rs1325771720	Likely pathogenic	Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B	RCV000665115;RCV000665115	MedGen;OMIM;OMIM	C3553947;614870;MedGen;614871	criteria provided, single submitter	tagSNP	rs1325771720
Clinvar_Rec_2310	rs200162521	Conflicting interpretations of pathogenicity	Distal spinal muscular atrophy;not provided	RCV000390391;RCV000522669	MedGen;Orphanet;SNOMED CT	C0393541;ORPHA53739;230247001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200162521
Clinvar_Rec_2311	rs1033319065	Likely benign	Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy, autosomal recessive 4	RCV000540248;RCV000540248	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809309;615376;ORPHA369867;MedGen;611067;ORPHA206580	criteria provided, single submitter	tagSNP	rs1033319065
Clinvar_Rec_2312	rs781346135	Uncertain significance	Parkinson Disease, Recessive	RCV000395718	MedGen	CN239372	criteria provided, single submitter	tagSNP	rs781346135
Clinvar_Rec_2313	rs28730668	Benign	Immunodeficiency 14;not provided	RCV001000392;RCV000539375	MedGen;OMIM;Orphanet	C3714976;615513;ORPHA397596;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28730668
Clinvar_Rec_2314	rs142881321	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000366147;RCV000306544;RCV000397219	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs142881321
Clinvar_Rec_2315	rs41274462	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000203918;RCV000399328;RCV000336206;RCV000857393;RCV000254281	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138324955
Clinvar_Rec_2316	rs41274462	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000205237;RCV000362928;RCV000401724;RCV000857394;RCV000250320	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139613776
Clinvar_Rec_2317	rs145630638	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000203918;RCV000399328;RCV000336206;RCV000857393;RCV000254281	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138324955
Clinvar_Rec_2318	rs145630638	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000205237;RCV000362928;RCV000401724;RCV000857394;RCV000250320	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139613776
Clinvar_Rec_2319	rs567547345	Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000293910;RCV000346520;RCV000385946	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs567547345
Clinvar_Rec_2320	rs11547608	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000203918;RCV000399328;RCV000336206;RCV000857393;RCV000254281	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138324955
Clinvar_Rec_2321	rs11547608	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000205237;RCV000362928;RCV000401724;RCV000857394;RCV000250320	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139613776
Clinvar_Rec_2322	rs1553159049	Uncertain significance	Amyotrophic lateral sclerosis type 10;TARDBP-related frontotemporal dementia	RCV000646150;RCV000646150	MedGen;OMIM	C2677565;612069;MedGen	criteria provided, single submitter	tagSNP	rs1553159049
Clinvar_Rec_2323	rs141412238	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Frontotemporal dementia	RCV000366619;RCV000400327	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239175;Human Phenotype Ontology;C0338451;600274;ORPHA282;230270009	criteria provided, single submitter	tagSNP	rs141412238
Clinvar_Rec_2324	rs118203950	Pathogenic	Schnyder crystalline corneal dystrophy	RCV000000909	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	no assertion criteria provided	tagSNP	rs118203950
Clinvar_Rec_2325	rs118203947	Pathogenic	Schnyder crystalline corneal dystrophy	RCV000000906	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	no assertion criteria provided	tagSNP	rs118203947
Clinvar_Rec_2326	rs118203953	Pathogenic	Schnyder crystalline corneal dystrophy	RCV000000912	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	no assertion criteria provided	tagSNP	rs118203953
Clinvar_Rec_2327	rs886045186	Uncertain significance	Neural tube defects, folate-sensitive	RCV000382810	MedGen;OMIM	C1866558;601634	criteria provided, single submitter	tagSNP	rs886045186
Clinvar_Rec_2328	rs768434408	Pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	RCV000167626	MedGen;OMIM;Orphanet	C1856058;236250;ORPHA395	no assertion criteria provided	tagSNP	rs768434408
Clinvar_Rec_2329	rs139786244	Uncertain significance	Neural tube defects, folate-sensitive	RCV000357793	MedGen;OMIM	C1866558;601634	criteria provided, single submitter	tagSNP	rs139786244
Clinvar_Rec_2330	rs17367629	Benign/Likely benign	Neural tube defects, folate-sensitive;not specified	RCV000355803;RCV000420664	MedGen;OMIM	C1866558;601634;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2066470
Clinvar_Rec_2331	rs557018718	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000634752	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	LD derived	rs555034048
Clinvar_Rec_2332	rs760584840	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000407334	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	tagSNP	rs760584840
Clinvar_Rec_2333	rs763494719	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000662014	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	tagSNP	rs763494719
Clinvar_Rec_2334	rs886045212	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000272355	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	tagSNP	rs886045212
Clinvar_Rec_2335	rs548809273	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000703199	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs548809273
Clinvar_Rec_2336	rs557772799	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Hereditary motor and sensory neuropathy	RCV000283773;RCV000377881	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs557772799
Clinvar_Rec_2337	rs41278638	Likely benign	Charcot-Marie-Tooth disease, type 2;Hereditary motor and sensory neuropathy	RCV000298405;RCV000390171	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs41278638
Clinvar_Rec_2338	rs886056669	Uncertain significance	Multicentric carpo-tarsal osteolysis with or without nephropathy	RCV000345530	MedGen;OMIM;Orphanet	C2674705;166300;ORPHA2774	criteria provided, single submitter	tagSNP	rs886056669
Clinvar_Rec_2339	rs886056671	Uncertain significance	Multicentric carpo-tarsal osteolysis with or without nephropathy	RCV000310629	MedGen;OMIM;Orphanet	C2674705;166300;ORPHA2774	criteria provided, single submitter	tagSNP	rs886056671
Clinvar_Rec_2340	rs267607131	no interpretation for the single variant	DNA topoisomerase I, camptothecin-resistant	RCV000018261	MedGen	C4016020	no interpretation for the single variant	tagSNP	rs267607131
Clinvar_Rec_2341	rs562842166	Uncertain significance	Cardiovascular phenotype;Hypertrophic cardiomyopathy	RCV000248740;RCV000705820	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, multiple submitters, no conflicts	LD derived	rs556886570
Clinvar_Rec_2342	rs6093935	Benign	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 17;not provided;not specified	RCV000253656;RCV000625329;RCV000860420;RCV000125451	MedGen;OMIM	CN230736;MedGen;613873;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6093935
Clinvar_Rec_2343	rs747762930	Uncertain significance	Hypertrophic cardiomyopathy	RCV000693084	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs747762930
Clinvar_Rec_2344	rs764474492	Uncertain significance	Familial hypertrophic cardiomyopathy 17;not provided	RCV000764239;RCV000523455	MedGen;OMIM	C3151264;613873;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764474492
Clinvar_Rec_2345	rs138992849	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 17;Hypertrophic cardiomyopathy;not specified	RCV000620653;RCV000625203;RCV000525610;RCV000183463	MedGen;OMIM;MedGen;Orphanet	CN230736;MedGen;613873;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138992849
Clinvar_Rec_2346	rs145280017	Conflicting interpretations of pathogenicity	Hyperinsulinism, Dominant;Maturity onset diabetes mellitus in young;not provided;not specified	RCV000305735;RCV000362810;RCV000924601;RCV000599897	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239341;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145280017
Clinvar_Rec_2347	rs121908729	Pathogenic	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	RCV000002057;RCV000059113	MedGen;OMIM;Orphanet	C1863239;MedGen;102700;ORPHA277	no assertion criteria provided	tagSNP	rs121908729
Clinvar_Rec_2348	rs765245462	Uncertain significance	Combined deficiency of sialidase AND beta galactosidase	RCV000278082	MedGen;OMIM;Orphanet;SNOMED CT	C0268233;256540;ORPHA351;35691006	criteria provided, single submitter	tagSNP	rs765245462
Clinvar_Rec_2349	rs565941222	Uncertain significance	Immunodeficiency with Hyper-IgM	RCV000316673	MedGen	CN239447	criteria provided, single submitter	tagSNP	rs565941222
Clinvar_Rec_2350	rs1158420839	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000770705	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1158420839
Clinvar_Rec_2351	rs959288629	Uncertain significance	Cardiovascular phenotype	RCV000619119	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs959288629
Clinvar_Rec_2352	rs864309481	Pathogenic	Arterial tortuosity syndrome;not provided	RCV000202501;RCV000599026	MedGen;OMIM;Orphanet	C1859726;208050;ORPHA3342;MedGen	criteria provided, single submitter	tagSNP	rs864309481
Clinvar_Rec_2353	rs34965637	Uncertain significance	Arterial tortuosity syndrome	RCV000268943	MedGen;OMIM;Orphanet	C1859726;208050;ORPHA3342	criteria provided, single submitter	tagSNP	rs34965637
Clinvar_Rec_2354	rs1555889090	Likely pathogenic	Epileptic encephalopathy	RCV000782160	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1555889090
Clinvar_Rec_2355	rs76458950	Likely benign	History of neurodevelopmental disorder;not provided	RCV000719294;RCV000963395	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76458950
Clinvar_Rec_2356	rs1568703975	Uncertain significance	History of neurodevelopmental disorder	RCV000719468	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1568703975
Clinvar_Rec_2357	rs147299402	Uncertain significance	Helsmoortel-Van der Aa Syndrome;not specified	RCV000764249;RCV000499393	MedGen;OMIM;Orphanet	C4014538;615873;ORPHA404448;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147299402
Clinvar_Rec_2358	rs148502910	Benign	History of neurodevelopmental disorder;not provided	RCV000715754;RCV000948054	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148502910
Clinvar_Rec_2359	rs199549262	Likely benign	History of neurodevelopmental disorder;not provided	RCV000719911;RCV000880484	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199549262
Clinvar_Rec_2360	rs139387382	Likely benign	History of neurodevelopmental disorder	RCV000719509	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs139387382
Clinvar_Rec_2361	rs202246859	Likely benign	Anophthalmia - microphthalmia	RCV000207404	MedGen	CN235161	criteria provided, single submitter	tagSNP	rs202246859
Clinvar_Rec_2362	rs886056784	Uncertain significance	Infantile hypercalcemia	RCV000375214	Human Phenotype Ontology;MedGen	HP;C0475732	criteria provided, single submitter	tagSNP	rs886056784
Clinvar_Rec_2363	rs535463249	Uncertain significance	Infantile hypercalcemia	RCV000297400	Human Phenotype Ontology;MedGen	HP;C0475732	criteria provided, single submitter	LD derived	rs556468258
Clinvar_Rec_2364	rs61755338	Likely benign	Infantile hypercalcemia	RCV000321680	Human Phenotype Ontology;MedGen	HP;C0475732	criteria provided, single submitter	tagSNP	rs61755338
Clinvar_Rec_2365	rs118055109	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Spinal Muscular Atrophy, Dominant	RCV000408322;RCV000352804	MedGen	CN239175;MedGen	criteria provided, single submitter	tagSNP	rs118055109
Clinvar_Rec_2366	rs150825395	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Spinal Muscular Atrophy, Dominant	RCV000304157;RCV000358904	MedGen	CN239175;MedGen	criteria provided, single submitter	tagSNP	rs150825395
Clinvar_Rec_2367	rs150825395	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Spinal Muscular Atrophy, Dominant	RCV000289976;RCV000347229	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs181028077
Clinvar_Rec_2368	rs797045046	Pathogenic	Pseudohypoparathyroidism;Pseudopseudohypoparathyroidism	RCV000191090;RCV000191090	Human Phenotype Ontology;MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C3494506;103580;ORPHA79443;MedGen;612463;ORPHA79445;237659007	criteria provided, single submitter	tagSNP	rs797045046
Clinvar_Rec_2369	rs3730166	Benign	Pseudohypoparathyroidism;not provided	RCV001007597;RCV000903826	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C3494506;103580;ORPHA79443;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35287986
Clinvar_Rec_2370	rs587776829	Pathogenic	Progressive osseous heteroplasia;Pseudohypoparathyroidism;Pseudopseudohypoparathyroidism;not specified	RCV000017301;RCV000017300;RCV000017302;RCV000678707	MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0334041;166350;ORPHA2762;Human Phenotype Ontology;C3494506;103580;ORPHA79443;MedGen;612463;ORPHA79445;237659007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776829
Clinvar_Rec_2371	rs540573245	Pathogenic	Waardenburg syndrome type 4B	RCV000018129	MedGen;OMIM	C2750457;613265	no assertion criteria provided	LD derived	rs74315385
Clinvar_Rec_2372	rs754808562	Uncertain significance	Epileptic encephalopathy, early infantile, 23	RCV000559418	MedGen;OMIM;Orphanet	C4014492;615859;ORPHA411986	criteria provided, single submitter	tagSNP	rs754808562
Clinvar_Rec_2373	rs1553155267	Uncertain significance	Congenital disorder of glycosylation type 1C	RCV000668708	MedGen;OMIM;Orphanet	C2930997;603147;ORPHA79320	criteria provided, single submitter	tagSNP	rs1553155267
Clinvar_Rec_2374	rs587777402	Pathogenic	Congenital disorder of glycosylation type 1t	RCV000119800	MedGen;OMIM;Orphanet	C2752015;614921;ORPHA319646	no assertion criteria provided	tagSNP	rs587777402
Clinvar_Rec_2375	rs61765314	Likely benign	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1t	RCV000271623;RCV000362631	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;614921;ORPHA319646	criteria provided, single submitter	tagSNP	rs61765314
Clinvar_Rec_2376	rs761043925	Uncertain significance	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1t	RCV000358182;RCV000322057	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;614921;ORPHA319646	criteria provided, single submitter	tagSNP	rs761043925
Clinvar_Rec_2377	rs1553163562	Pathogenic	DEAFNESS, AUTOSOMAL RECESSIVE 108	RCV000504579	MedGen;OMIM	C4539997;617654	no assertion criteria provided	tagSNP	rs1553163562
Clinvar_Rec_2378	rs149329546	Uncertain significance	Monogenic diabetes	RCV000664074	MedGen;Orphanet	C3888631;ORPHA183625	criteria provided, single submitter	tagSNP	rs149329546
Clinvar_Rec_2379	rs764959117	Uncertain significance	Acrocephalosyndactyly type I;Craniosynostosis;Crouzon syndrome;Isolated coronal synostosis;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Saethre-Chotzen syndrome	RCV000337283;RCV000284236;RCV000324015;RCV000376381;RCV000394935;RCV000402617;RCV000282278;RCV000336994	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;OMIM;Orphanet;SNOMED CT	C0001193;101200;ORPHA87;205258009;Human Phenotype Ontology;C1849943;Human Phenotype Ontology;D003394;C2931196;123500;ORPHA207;28861008;MedGen;123150;ORPHA1540;MedGen;149730;ORPHA2363;23817003;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259;MedGen;101400;ORPHA794;83015004	criteria provided, single submitter	tagSNP	rs764959117
Clinvar_Rec_2380	rs28665753	Likely benign	Macular degeneration	RCV000299709	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0024437;422338006	criteria provided, single submitter	tagSNP	rs28665753
Clinvar_Rec_2381	rs886046797	Uncertain significance	Deficiency of 2-methylbutyryl-CoA dehydrogenase	RCV000304869	MedGen;OMIM;Orphanet;SNOMED CT	C1864912;610006;ORPHA79157;444838008	criteria provided, single submitter	tagSNP	rs886046797
Clinvar_Rec_2382	rs187253795	Uncertain significance	Deficiency of 2-methylbutyryl-CoA dehydrogenase	RCV000361871	MedGen;OMIM;Orphanet;SNOMED CT	C1864912;610006;ORPHA79157;444838008	criteria provided, single submitter	tagSNP	rs187253795
Clinvar_Rec_2383	rs886046799	Uncertain significance	Deficiency of 2-methylbutyryl-CoA dehydrogenase	RCV000275739	MedGen;OMIM;Orphanet;SNOMED CT	C1864912;610006;ORPHA79157;444838008	criteria provided, single submitter	tagSNP	rs886046799
Clinvar_Rec_2384	rs886046800	Uncertain significance	Deficiency of 2-methylbutyryl-CoA dehydrogenase	RCV000371542	MedGen;OMIM;Orphanet;SNOMED CT	C1864912;610006;ORPHA79157;444838008	criteria provided, single submitter	tagSNP	rs886046800
Clinvar_Rec_2385	rs886046808	Uncertain significance	Ornithine aminotransferase deficiency	RCV000355425	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0599035;258870;276426004	criteria provided, single submitter	tagSNP	rs886046808
Clinvar_Rec_2386	rs864309498	Uncertain significance	Acute megakaryoblastic leukemia;Mediastinal germ cell tumor	RCV000202584;RCV000202584	MeSH;MedGen;Orphanet	D007947;C0023462;ORPHA518;MedGen	no assertion criteria provided	tagSNP	rs864309498
Clinvar_Rec_2387	rs141542003	Uncertain significance	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29;Mitochondrial diseases	RCV000239528;RCV000240617	MedGen;OMIM;Orphanet	C4748830;618250;MedGen;ORPHA68380	criteria provided, single submitter	tagSNP	rs141542003
Clinvar_Rec_2388	rs556412849	Uncertain significance	Familial exudative vitreoretinopathy	RCV000337504	MeSH;MedGen;Orphanet	C580083;C0339539;ORPHA891	criteria provided, single submitter	tagSNP	rs556412849
Clinvar_Rec_2389	rs80358295	Pathogenic	Exudative retinopathy;Familial exudative vitreoretinopathy;not provided	RCV000210225;RCV000210225;RCV000598865	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0154832;300216;ORPHA190;25506007;MeSH;C0339539;ORPHA891;MedGen	criteria provided, single submitter	tagSNP	rs80358295
Clinvar_Rec_2390	rs80358294	Pathogenic	Exudative vitreoretinopathy 1;Exudative vitreoretinopathy, digenic	RCV000005820;RCV000005821	MedGen;OMIM	C1851402;133780;MedGen	no assertion criteria provided	tagSNP	rs80358294
Clinvar_Rec_2391	rs878853344	Uncertain significance	Retinal dystrophy	RCV000225370	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs878853344
Clinvar_Rec_2392	rs200779585	Uncertain significance	Haim-Munk syndrome;Papillon-Lefèvre syndrome	RCV000303015;RCV000391537	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1855627;245010;ORPHA2342;MedGen;245000;ORPHA678;40158001	criteria provided, single submitter	tagSNP	rs200779585
Clinvar_Rec_2393	rs185222838	Benign/Likely benign	Spastic paraplegia, autosomal dominant;not provided	RCV000280738;RCV000860549	MedGen	CN239430;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs185222838
Clinvar_Rec_2394	rs185222838	Likely benign	Spastic paraplegia, autosomal dominant	RCV000339120	MedGen	CN239430	criteria provided, single submitter	LD derived	rs188393827
Clinvar_Rec_2395	rs754185572	Uncertain significance	Spastic paraplegia, autosomal dominant	RCV000302906	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs754185572
Clinvar_Rec_2396	rs879255240	Pathogenic	Precocious puberty, central, 2	RCV000050240	MedGen;OMIM	C3809199;615346	no assertion criteria provided	tagSNP	rs879255240
Clinvar_Rec_2397	rs587781225	Pathogenic	Angelman syndrome	RCV000144299	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587781225
Clinvar_Rec_2398	rs1566825584	Likely benign	History of neurodevelopmental disorder	RCV000716983	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1566825584
Clinvar_Rec_2399	rs797046086	Pathogenic	Angelman syndrome	RCV000193045	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	criteria provided, single submitter	tagSNP	rs797046086
Clinvar_Rec_2400	rs587782919	Uncertain significance	Angelman syndrome	RCV000144344	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587782919
Clinvar_Rec_2401	rs587782919	Likely pathogenic	Angelman syndrome	RCV000147873	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	criteria provided, single submitter	tagSNP	rs587782919
Clinvar_Rec_2402	rs587782918	Uncertain significance	Angelman syndrome	RCV000144343	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587782918
Clinvar_Rec_2403	rs587780585	Pathogenic	Angelman syndrome	RCV000144559	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587780585
Clinvar_Rec_2404	rs587781201	Pathogenic	Angelman syndrome	RCV000144275	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587781201
Clinvar_Rec_2405	rs150331504	Benign	Angelman syndrome;History of neurodevelopmental disorder;not provided;not specified	RCV000144353;RCV000718093;RCV000858459;RCV000177396	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150331504
Clinvar_Rec_2406	rs1555400067	Pathogenic	Inborn genetic diseases	RCV000190730	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555400067
Clinvar_Rec_2407	rs149506027	Benign/Likely benign	Angelman syndrome;History of neurodevelopmental disorder;not provided;not specified	RCV000144339;RCV000719952;RCV000714144;RCV000082342	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149506027
Clinvar_Rec_2408	rs769775137	Likely benign	History of neurodevelopmental disorder	RCV000718228	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs769775137
Clinvar_Rec_2409	rs886061222	Uncertain significance	Hermansky-Pudlak syndrome	RCV000361698	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs886061222
Clinvar_Rec_2410	rs148092520	Conflicting interpretations of pathogenicity	Hermansky-Pudlak syndrome;not provided;not specified	RCV000271589;RCV000896124;RCV000499793	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148092520
Clinvar_Rec_2411	rs747276703	Uncertain significance	Lafora disease	RCV000701582	MedGen;OMIM;Orphanet;SNOMED CT	C0751783;254780;ORPHA501;230425004	criteria provided, single submitter	tagSNP	rs747276703
Clinvar_Rec_2412	rs116440410	Uncertain significance	Hereditary hemochromatosis	RCV000383494	MedGen;SNOMED CT	C0392514;35400008	criteria provided, single submitter	LD derived	rs148307737
Clinvar_Rec_2413	rs1131690807	Pathogenic	RAHMAN SYNDROME;not provided	RCV000492643;RCV001008411	MedGen;OMIM	C4479637;617537;MedGen	criteria provided, single submitter	tagSNP	rs1131690807
Clinvar_Rec_2414	rs281864764	Benign	Abnormality of neuronal migration	RCV000201406	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs281864764
Clinvar_Rec_2415	rs1061235	risk factor	Carbamazepine hypersensitivity	RCV000022618	MedGen	C3277286	no assertion criteria provided	tagSNP	rs1061235
Clinvar_Rec_2416	rs374962879	Uncertain significance	Walker-Warburg congenital muscular dystrophy	RCV000530534	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs374962879
Clinvar_Rec_2417	rs886063320	Uncertain significance	Dilated Cardiomyopathy, Recessive;Fukuyama congenital muscular dystrophy	RCV000335334;RCV000280464	MedGen;OMIM;Orphanet;SNOMED CT	CN239222;MedGen;253800;ORPHA272;111502003	criteria provided, single submitter	tagSNP	rs886063320
Clinvar_Rec_2418	rs371464705	Uncertain significance	Walker-Warburg congenital muscular dystrophy	RCV000701320	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs371464705
Clinvar_Rec_2419	rs141918432	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Recessive;Fukuyama congenital muscular dystrophy;Ventricular tachycardia;not provided;not specified	RCV000029800;RCV000853035;RCV000620492;RCV000314345;RCV000390697;RCV000853035;RCV000473598;RCV000149976	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;253800;ORPHA272;111502003;EFO;HP;C0042514;25569003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141918432
Clinvar_Rec_2420	rs727502847	Conflicting interpretations of pathogenicity	Walker-Warburg congenital muscular dystrophy;not provided	RCV000791654;RCV000149977	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs727502847
Clinvar_Rec_2421	rs764320309	Uncertain significance	Familial dysautonomia	RCV000698994	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs764320309
Clinvar_Rec_2422	rs2275640	Benign/Likely benign	Familial dysautonomia;not provided	RCV000299565;RCV000829686	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2275640
Clinvar_Rec_2423	rs138630440	Uncertain significance	Familial dysautonomia	RCV000277345	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs138630440
Clinvar_Rec_2424	rs143613903	Conflicting interpretations of pathogenicity	Familial dysautonomia;not specified	RCV000365036;RCV000125407	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, conflicting interpretations	LD derived	rs141670242
Clinvar_Rec_2425	rs143613903	Conflicting interpretations of pathogenicity	Familial dysautonomia;not provided;not specified	RCV000353935;RCV000857369;RCV000125396	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, conflicting interpretations	LD derived	rs17853166
Clinvar_Rec_2426	rs557510313	Uncertain significance	Porphobilinogen synthase deficiency	RCV000268873	MedGen;OMIM;Orphanet;SNOMED CT	C0268328;612740;ORPHA95157;64081000	criteria provided, single submitter	tagSNP	rs557510313
Clinvar_Rec_2427	rs35258467	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000393736;RCV000348525;RCV000839194;RCV000038883	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs35258467
Clinvar_Rec_2428	rs35258467	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000391031;RCV000305815;RCV000839195;RCV000038893	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	LD derived	rs61743618
Clinvar_Rec_2429	rs73555447	Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000318217;RCV000263075	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs73555447
Clinvar_Rec_2430	rs7861589	Uncertain significance	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000378005;RCV000323313	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs7861589
Clinvar_Rec_2431	rs4527950	Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000283362;RCV000329023	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs4527950
Clinvar_Rec_2432	rs4527950	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified	RCV000392568;RCV000306250;RCV000038862	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2297815
Clinvar_Rec_2433	rs4527950	Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000312226;RCV000366939	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	LD derived	rs2297814
Clinvar_Rec_2434	rs4527950	Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000295414;RCV000350307	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	LD derived	rs10759714
Clinvar_Rec_2435	rs4527950	Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000266376;RCV000321524	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	LD derived	rs150944893
Clinvar_Rec_2436	rs201891227	Conflicting interpretations of pathogenicity	Bardet-Biedl syndrome;Limb-Girdle Muscular Dystrophy, Recessive;not provided	RCV000294133;RCV000388366;RCV000860894	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201891227
Clinvar_Rec_2437	rs918796736	Uncertain significance	Bardet-Biedl syndrome;not provided	RCV001043788;RCV000591865	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs918796736
Clinvar_Rec_2438	rs139113969	Uncertain significance	Bardet-Biedl syndrome;not provided	RCV000686978;RCV000734805	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139113969
Clinvar_Rec_2439	rs3747834	Conflicting interpretations of pathogenicity	Bardet-Biedl syndrome;Limb-Girdle Muscular Dystrophy, Recessive;not provided;not specified	RCV000364969;RCV000310268;RCV000858351;RCV000247857	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs3747834
Clinvar_Rec_2440	rs373287765	Uncertain significance	Bardet-Biedl syndrome;not provided	RCV001038805;RCV000523459	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373287765
Clinvar_Rec_2441	rs571526516	Uncertain significance	Bardet-Biedl syndrome;Limb-Girdle Muscular Dystrophy, Recessive	RCV000372907;RCV000278386	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, single submitter	tagSNP	rs571526516
Clinvar_Rec_2442	rs868402796	Uncertain significance	Bardet-Biedl syndrome;Limb-Girdle Muscular Dystrophy, Recessive	RCV000309179;RCV000390347	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, single submitter	tagSNP	rs868402796
Clinvar_Rec_2443	rs782449839	Uncertain significance	Deoxygalactonojirimycin response;Fabry disease;not provided	RCV000208881;RCV000209559;RCV000782201	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN233149;Human Phenotype Ontology;C0002986;301500;ORPHA324;16652001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782449839
Clinvar_Rec_2444	rs28935494	Pathogenic	Fabry disease	RCV000011492	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002986;301500;ORPHA324;16652001	no assertion criteria provided	tagSNP	rs28935494
Clinvar_Rec_2445	rs782722844	Uncertain significance	Fabry disease	RCV000695603	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002986;301500;ORPHA324;16652001	criteria provided, single submitter	tagSNP	rs782722844
Clinvar_Rec_2446	rs104894836	Pathogenic	Fabry disease	RCV000011472	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002986;301500;ORPHA324;16652001	no assertion criteria provided	tagSNP	rs104894836
Clinvar_Rec_2447	rs869312136	Pathogenic, drug response	Deoxygalactonojirimycin response;Fabry disease	RCV000209255;RCV000208990	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN233149;Human Phenotype Ontology;C0002986;301500;ORPHA324;16652001	no assertion criteria provided	tagSNP	rs869312136
Clinvar_Rec_2448	rs3027585	Benign/Likely benign	Fabry disease;Hypertrophic cardiomyopathy;not provided;not specified	RCV000299308;RCV000406500;RCV000675281;RCV000035297	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0002986;301500;ORPHA324;16652001;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3027585
Clinvar_Rec_2449	rs863223372	Benign	Abnormality of neuronal migration	RCV000201323	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs863223372
Clinvar_Rec_2450	rs191101701	Uncertain significance	Majeed syndrome	RCV000524552	MedGen;OMIM;Orphanet	C1864997;609628;ORPHA77297	criteria provided, single submitter	tagSNP	rs191101701
Clinvar_Rec_2451	rs145621092	Uncertain significance	Holoprosencephaly sequence	RCV000347655	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs145621092
Clinvar_Rec_2452	rs724159993	Pathogenic	Gordon's syndrome	RCV000125477	MedGen;OMIM;Orphanet;SNOMED CT	C0220666;114300;ORPHA376;237850008	no assertion criteria provided	tagSNP	rs724159993
Clinvar_Rec_2453	rs79884272	Likely benign	Spinocerebellar Ataxia, Dominant	RCV000340153	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs79884272
Clinvar_Rec_2454	rs1129115	Benign	Spinocerebellar Ataxia, Dominant	RCV000357421	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs1129115
Clinvar_Rec_2455	rs143904819	Uncertain significance	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000385987	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs143904819
Clinvar_Rec_2456	rs7734	Benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000339448	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs7734
Clinvar_Rec_2457	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000349990	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs112448103
Clinvar_Rec_2458	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000329439	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs16858921
Clinvar_Rec_2459	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000286812	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs8762
Clinvar_Rec_2460	rs112448103	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000277036	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	LD derived	rs16828882
Clinvar_Rec_2461	rs1057516806	Pathogenic/Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz;not provided	RCV000412328;RCV001041657	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057516806
Clinvar_Rec_2462	rs1553267882	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz	RCV000667628	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, single submitter	tagSNP	rs1553267882
Clinvar_Rec_2463	rs200603992	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001023434;RCV000638126	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200603992
Clinvar_Rec_2464	rs1455683303	Uncertain significance	Parathyroid carcinoma	RCV000547661	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0687150;608266;ORPHA143;255037004	criteria provided, single submitter	tagSNP	rs1455683303
Clinvar_Rec_2465	rs757206621	Likely benign	Parathyroid carcinoma	RCV000541291	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0687150;608266;ORPHA143;255037004	criteria provided, single submitter	tagSNP	rs757206621
Clinvar_Rec_2466	rs148612206	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hyperparathyroidism 2;Isolated Hyperparathyroidism;Parathyroid carcinoma;not provided;not specified	RCV001009738;RCV000261802;RCV000315634;RCV000234138;RCV000858280;RCV000441371	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;145001;ORPHA99880;MedGen;C0687150;608266;ORPHA143;255037004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148612206
Clinvar_Rec_2467	rs1060500010	Uncertain significance	Parathyroid carcinoma	RCV000471251	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0687150;608266;ORPHA143;255037004	criteria provided, single submitter	tagSNP	rs1060500010
Clinvar_Rec_2468	rs765427308	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001010328;RCV000551319	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765427308
Clinvar_Rec_2469	rs886058905	Uncertain significance	Frontotemporal dementia	RCV000324889	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338451;600274;ORPHA282;230270009	criteria provided, single submitter	tagSNP	rs886058905
Clinvar_Rec_2470	rs201179527	Conflicting interpretations of pathogenicity	Hermansky-Pudlak syndrome;not provided	RCV000380359;RCV000970445	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201179527
Clinvar_Rec_2471	rs1554079304	Uncertain significance	Mucopolysaccharidosis type 6	RCV000677440	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554079304
Clinvar_Rec_2472	rs760822691	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000275414;RCV000319298	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs760822691
Clinvar_Rec_2473	rs76418670	Likely benign	Vitreoretinopathy;Wagner syndrome;not provided	RCV000352229;RCV000287764;RCV000968458	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76418670
Clinvar_Rec_2474	rs144502710	Conflicting interpretations of pathogenicity	Vitreoretinopathy;Wagner syndrome;not provided;not specified	RCV000354699;RCV000260812;RCV001057617;RCV000249338	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144502710
Clinvar_Rec_2475	rs886060823	Uncertain significance	Vitreoretinopathy;Wagner syndrome	RCV000399082;RCV000283186	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs886060823
Clinvar_Rec_2476	rs309557	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000381744;RCV000286138;RCV000154120	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs309557
Clinvar_Rec_2477	rs309557	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000328381;RCV000288593;RCV000154116	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs309559
Clinvar_Rec_2478	rs309557	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000302059;RCV000338406;RCV000180248	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs160279
Clinvar_Rec_2479	rs309557	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000272515;RCV000327636;RCV000180249	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs160278
Clinvar_Rec_2480	rs309557	Conflicting interpretations of pathogenicity	Vitreoretinopathy;Wagner syndrome;not provided	RCV000333214;RCV000273472;RCV000180252	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, conflicting interpretations	LD derived	rs160278
Clinvar_Rec_2481	rs160279	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000302059;RCV000338406;RCV000180248	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs160279
Clinvar_Rec_2482	rs160279	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000328381;RCV000288593;RCV000154116	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs309559
Clinvar_Rec_2483	rs160279	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000381744;RCV000286138;RCV000154120	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs309557
Clinvar_Rec_2484	rs160279	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000272515;RCV000327636;RCV000180249	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs160278
Clinvar_Rec_2485	rs160279	Conflicting interpretations of pathogenicity	Vitreoretinopathy;Wagner syndrome;not provided	RCV000333214;RCV000273472;RCV000180252	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, conflicting interpretations	LD derived	rs160278
Clinvar_Rec_2486	rs61733401	Benign	Vitreoretinopathy;Wagner syndrome;not provided	RCV000280664;RCV000340300;RCV000956290	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61733401
Clinvar_Rec_2487	rs61733401	Benign	Vitreoretinopathy;Wagner syndrome;not provided	RCV000330292;RCV000272844;RCV000956291	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61733389
Clinvar_Rec_2488	rs140606678	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000319988;RCV000260086	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs140606678
Clinvar_Rec_2489	rs144914004	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000314685;RCV000350897	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs144914004
Clinvar_Rec_2490	rs767660495	Uncertain significance	Vitreoretinopathy;Wagner syndrome	RCV000327562;RCV000292642	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs767660495
Clinvar_Rec_2491	rs756823982	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000295764;RCV000349873	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs756823982
Clinvar_Rec_2492	rs577603057	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000334188;RCV000276350	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs577603057
Clinvar_Rec_2493	rs202198791	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000369372;RCV000312316	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs202198791
Clinvar_Rec_2494	rs16900532	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000323240;RCV000284628;RCV000245296	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs16900532
Clinvar_Rec_2495	rs139453864	Benign/Likely benign	Vitreoretinopathy;Wagner syndrome;not provided;not specified	RCV000314884;RCV000352970;RCV000883146;RCV000245573	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139453864
Clinvar_Rec_2496	rs8061	Benign	Vitreoretinopathy;Wagner syndrome	RCV000383135;RCV000273425	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs8061
Clinvar_Rec_2497	rs200002693	Benign/Likely benign	Capillary malformation-arteriovenous malformation 1;Parkes Weber syndrome;not provided	RCV000321017;RCV000268284;RCV000756591	MedGen;OMIM;Orphanet	C4747394;608354;MedGen;ORPHA90307;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200002693
Clinvar_Rec_2498	rs553059467	Likely benign	Capillary malformation-arteriovenous malformation 1;Parkes Weber syndrome	RCV000319476;RCV000371706	MedGen;OMIM;Orphanet	C4747394;608354;MedGen;ORPHA90307	criteria provided, single submitter	tagSNP	rs553059467
Clinvar_Rec_2499	rs770822619	Uncertain significance	Capillary malformation-arteriovenous malformation 1;Parkes Weber syndrome	RCV000309726;RCV000362673	MedGen;OMIM;Orphanet	C4747394;608354;MedGen;ORPHA90307	criteria provided, single submitter	tagSNP	rs770822619
Clinvar_Rec_2500	rs200767686	Conflicting interpretations of pathogenicity	Hermansky-Pudlak syndrome;not specified	RCV000309333;RCV000500495	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200767686
Clinvar_Rec_2501	rs886054491	Uncertain significance	Hermansky-Pudlak syndrome	RCV000388875	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs886054491
Clinvar_Rec_2502	rs546902024	Uncertain significance	Xeroderma pigmentosum	RCV000300493	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs546902024
Clinvar_Rec_2503	rs3212989	Conflicting interpretations of pathogenicity	Cerebrooculofacioskeletal syndrome 4;not provided	RCV000991189;RCV000224631	MedGen;OMIM	C1853100;610758;MedGen	criteria provided, conflicting interpretations	tagSNP	rs3212989
Clinvar_Rec_2504	rs749775040	Uncertain significance	Xeroderma pigmentosum	RCV000330246	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs749775040
Clinvar_Rec_2505	rs772248018	Uncertain significance	Spastic paraplegia	RCV000548998	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs772248018
Clinvar_Rec_2506	rs879119658	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000290614;RCV000382597	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs879119658
Clinvar_Rec_2507	rs879119658	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000377516;RCV000320603	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs879119658
Clinvar_Rec_2508	rs73568973	Likely benign	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000264640;RCV000322096	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs73568973
Clinvar_Rec_2509	rs190488484	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000288047;RCV000352348	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs190488484
Clinvar_Rec_2510	rs73942919	Likely benign	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000400705;RCV000303577	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs73942919
Clinvar_Rec_2511	rs571672143	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000407653;RCV000347039	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs571672143
Clinvar_Rec_2512	rs886054540	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000315020;RCV000407659	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs886054540
Clinvar_Rec_2513	rs151081181	Likely benign	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000362172;RCV000307414	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	LD derived	rs142898530
Clinvar_Rec_2514	rs1343690502	not provided	3-Methylglutaconic aciduria type 3;Optic atrophy and cataract, autosomal dominant	RCV000709769;RCV000709769	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0574084;258501;ORPHA67047;297232009;MedGen;165300;ORPHA67036	no assertion provided	tagSNP	rs1343690502
Clinvar_Rec_2515	rs1057519372	Uncertain significance	Branchiootorenal syndrome 2	RCV000416581	MedGen;OMIM	C1970479;610896	criteria provided, single submitter	tagSNP	rs1057519372
Clinvar_Rec_2516	rs1568666846	Uncertain significance	Long QT syndrome 1	RCV000705754	MedGen;OMIM	C4551647;192500	criteria provided, single submitter	tagSNP	rs1568666846
Clinvar_Rec_2517	rs886043706	Pathogenic	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;not provided	RCV000673066;RCV000346543	MedGen;OMIM;Orphanet	C1846672;607155;ORPHA34515;MedGen	criteria provided, single submitter	tagSNP	rs886043706
Clinvar_Rec_2518	rs1555738675	Likely pathogenic	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	RCV000674998	MedGen;OMIM;Orphanet	C1846672;607155;ORPHA34515	criteria provided, single submitter	tagSNP	rs1555738675
Clinvar_Rec_2519	rs770195088	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	RCV000668104	MedGen;OMIM;Orphanet	C1846672;607155;ORPHA34515	criteria provided, single submitter	tagSNP	rs770195088
Clinvar_Rec_2520	rs1060502112	Uncertain significance	Walker-Warburg congenital muscular dystrophy	RCV000457702	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs1060502112
Clinvar_Rec_2521	rs752243337	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	RCV000664689	MedGen;OMIM;Orphanet	C1846672;607155;ORPHA34515	criteria provided, single submitter	tagSNP	rs752243337
Clinvar_Rec_2522	rs369666163	Uncertain significance	Walker-Warburg congenital muscular dystrophy;not provided	RCV000547216;RCV000596182	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369666163
Clinvar_Rec_2523	rs562778110	Benign/Likely benign	Neuroferritinopathy;not provided;not specified	RCV000295273;RCV000645191;RCV000424879	MedGen;OMIM;Orphanet	C1853578;606159;ORPHA157846;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146698792
Clinvar_Rec_2524	rs768457741	Uncertain significance	Neuroferritinopathy	RCV000280711	MedGen;OMIM;Orphanet	C1853578;606159;ORPHA157846	criteria provided, single submitter	tagSNP	rs768457741
Clinvar_Rec_2525	rs886054567	Uncertain significance	Glycogen storage disease 0, muscle	RCV000264756	MedGen;OMIM;Orphanet	C1969054;611556;ORPHA137625	criteria provided, single submitter	tagSNP	rs886054567
Clinvar_Rec_2526	rs886054573	Uncertain significance	Glycogen storage disease 0, muscle	RCV000325572	MedGen;OMIM;Orphanet	C1969054;611556;ORPHA137625	criteria provided, single submitter	tagSNP	rs886054573
Clinvar_Rec_2527	rs587777375	Likely pathogenic	Glycogen storage disease 0, muscle	RCV000116203	MedGen;OMIM;Orphanet	C1969054;611556;ORPHA137625	criteria provided, single submitter	tagSNP	rs587777375
Clinvar_Rec_2528	rs146715554	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000557081	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs146715554
Clinvar_Rec_2529	rs768469811	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653848	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs768469811
Clinvar_Rec_2530	rs536541839	Uncertain significance	Epileptic encephalopathy	RCV000403129	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs536541839
Clinvar_Rec_2531	rs756589726	Uncertain significance	Early infantile epileptic encephalopathy 12	RCV000690672	MedGen;OMIM	C3150988;613722	criteria provided, single submitter	tagSNP	rs756589726
Clinvar_Rec_2532	rs74905277	Conflicting interpretations of pathogenicity	Early infantile epileptic encephalopathy 10;History of neurodevelopmental disorder;not specified	RCV000147342;RCV000716815;RCV000127496	MedGen;OMIM	C3150667;613402;MedGen	criteria provided, conflicting interpretations	LD derived	rs1050332
Clinvar_Rec_2533	rs1260697914	Likely benign	Colorectal cancer 10	RCV000543485	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1260697914
Clinvar_Rec_2534	rs201261298	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567320;RCV000827273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201261298
Clinvar_Rec_2535	rs1555789135	Uncertain significance	Colorectal cancer 10	RCV000645830	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555789135
Clinvar_Rec_2536	rs147911699	Conflicting interpretations of pathogenicity	Carcinoma of colon;Colorectal cancer 10;Colorectal cancer 10;Familial colorectal cancer;Hereditary cancer-predisposing syndrome;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome;not provided;not specified	RCV000210898;RCV000228225;RCV000765469;RCV000709579;RCV000562731;RCV000765469;RCV000657103;RCV000235439	MedGen;OMIM;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0009402;114500;269533000;MedGen;612591;MedGen;612591;MedGen;ORPHA140162;699346009;MedGen;615381;ORPHA363649;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147911699
Clinvar_Rec_2537	rs147911699	Uncertain significance	Deafness, autosomal dominant 4;Nonsyndromic Hearing Loss, Dominant;Peripheral neuropathy, myopathy, hoarseness, and hearing loss	RCV000477780;RCV000388475;RCV000477780	MedGen;OMIM;OMIM;Orphanet	C1833503;600652;MedGen;614369;ORPHA397744	criteria provided, single submitter	LD derived	rs201515738
Clinvar_Rec_2538	rs1555791079	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563226	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555791079
Clinvar_Rec_2539	rs1555792551	Uncertain significance	Colorectal cancer 10	RCV000645871	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555792551
Clinvar_Rec_2540	rs149693484	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567320;RCV000827273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201261298
Clinvar_Rec_2541	rs4806711	Likely benign	Retinitis Pigmentosa, Dominant	RCV000270426	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs4806711
Clinvar_Rec_2542	rs34154455	Likely benign	Retinitis Pigmentosa, Dominant	RCV000363655	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs34154455
Clinvar_Rec_2543	rs34154455	Likely benign	Retinitis Pigmentosa, Dominant	RCV000333392	MedGen	CN239354	criteria provided, single submitter	LD derived	rs35230170
Clinvar_Rec_2544	rs886041060	Pathogenic	Mental retardation, autosomal recessive 57	RCV000258829	MedGen;OMIM	C4310673;617188	no assertion criteria provided	tagSNP	rs886041060
Clinvar_Rec_2545	rs62126315	Uncertain significance	Nemaline myopathy 5	RCV000704280	MedGen;OMIM;Orphanet	C1854380;605355;ORPHA98902	criteria provided, single submitter	tagSNP	rs62126315
Clinvar_Rec_2546	rs104894728	Pathogenic	Familial hypertrophic cardiomyopathy 7;Familial restrictive cardiomyopathy 1	RCV000013235;RCV000013236	MedGen;OMIM;OMIM	C1860752;613690;MedGen;115210	no assertion criteria provided	tagSNP	rs104894728
Clinvar_Rec_2547	rs727503500	Likely pathogenic	Hypertrophic cardiomyopathy	RCV000152073	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs727503500
Clinvar_Rec_2548	rs193921007	Uncertain significance	Malignant tumor of prostate	RCV000149368	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193921007
Clinvar_Rec_2549	rs886045025	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000298431	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886045025
Clinvar_Rec_2550	rs754759010	Uncertain significance	Spinocerebellar ataxia type 19/22	RCV000640966	MedGen;OMIM;Orphanet	C1846367;607346;ORPHA98772	criteria provided, single submitter	tagSNP	rs754759010
Clinvar_Rec_2551	rs886045062	Uncertain significance	Hyperinsulinism, Dominant	RCV000365267	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs886045062
Clinvar_Rec_2552	rs886045063	Uncertain significance	Hyperinsulinism, Dominant	RCV000268935	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs886045063
Clinvar_Rec_2553	rs182505461	Uncertain significance	Hyperinsulinism, Dominant	RCV000283294	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs182505461
Clinvar_Rec_2554	rs886045067	Uncertain significance	Hyperinsulinism, Dominant	RCV000362758	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs886045067
Clinvar_Rec_2555	rs77373295	Uncertain significance	Exercise-induced hyperinsulinism;Hyperinsulinism, Dominant	RCV000986395;RCV000284050	MedGen;OMIM;Orphanet	C1864902;610021;ORPHA165991;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77373295
Clinvar_Rec_2556	rs531409912	Uncertain significance	Hyperinsulinism, Dominant	RCV000275510	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs531409912
Clinvar_Rec_2557	rs1558076040	Uncertain significance	History of neurodevelopmental disorder	RCV000717482	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1558076040
Clinvar_Rec_2558	rs1553256829	Uncertain significance	Spastic paraplegia 47, autosomal recessive	RCV000540725	MedGen;OMIM	C3279738;614066	criteria provided, single submitter	tagSNP	rs1553256829
Clinvar_Rec_2559	rs1199130382	Uncertain significance	Autosomal recessive dyskeratosis congenita	RCV000705370	MedGen;SNOMED CT	C3502105;707272006	criteria provided, single submitter	tagSNP	rs1199130382
Clinvar_Rec_2560	rs886045108	Uncertain significance	Noonan syndrome	RCV000275482	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs886045108
Clinvar_Rec_2561	rs9724643	Likely benign	Noonan syndrome	RCV000313412	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs9724643
Clinvar_Rec_2562	rs886045121	Uncertain significance	Caudal dysgenesis syndrome;Neural tube defect	RCV000368825;RCV000314170	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	tagSNP	rs886045121
Clinvar_Rec_2563	rs75277108	Likely benign	Caudal dysgenesis syndrome;Neural tube defect	RCV000310701;RCV000274308	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	tagSNP	rs75277108
Clinvar_Rec_2564	rs4074536	Benign	Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 2;not specified	RCV000247814;RCV000389613;RCV000604412;RCV000037136	MedGen;Orphanet;OMIM	CN230736;MedGen;ORPHA3286;MedGen;611938;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4074536
Clinvar_Rec_2565	rs1553192783	Pathogenic	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	RCV000656716	MedGen;OMIM;Orphanet	C4747974;618036;ORPHA521414	no assertion criteria provided	tagSNP	rs1553192783
Clinvar_Rec_2566	rs587648058	Uncertain significance	Phosphoglycerate dehydrogenase deficiency	RCV000364573	MedGen;OMIM;Orphanet	C1866174;601815;ORPHA79351	criteria provided, single submitter	tagSNP	rs587648058
Clinvar_Rec_2567	rs1557801809	Uncertain significance	Hajdu-Cheney syndrome	RCV000695291	MedGen;OMIM;Orphanet;SNOMED CT	C0917715;102500;ORPHA955;63122002	criteria provided, single submitter	tagSNP	rs1557801809
Clinvar_Rec_2568	rs144879606	Likely benign	Pheochromocytoma	RCV000346571	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	LD derived	rs117655540
Clinvar_Rec_2569	rs144879606	Likely benign	Pheochromocytoma	RCV000357749	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	LD derived	rs3832113
Clinvar_Rec_2570	rs144879606	Likely benign	Pheochromocytoma	RCV000284004	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	LD derived	rs147532087
Clinvar_Rec_2571	rs144879606	Benign/Likely benign	Retinitis Pigmentosa, Dominant;Retinitis pigmentosa 33;not provided	RCV000360735;RCV001000577;RCV000892052	MedGen;OMIM	CN239354;MedGen;610359;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2276647
Clinvar_Rec_2572	rs867431947	Uncertain significance	Pheochromocytoma	RCV000333222	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs867431947
Clinvar_Rec_2573	rs536712285	Likely benign	Pheochromocytoma	RCV000338455	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs536712285
Clinvar_Rec_2574	rs886056446	Uncertain significance	Pheochromocytoma	RCV000378486	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs886056446
Clinvar_Rec_2575	rs11690659	Likely benign	Pheochromocytoma	RCV000353674	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	LD derived	rs11691019
Clinvar_Rec_2576	rs137891647	Pathogenic	Lipoyltransferase 1 deficiency;not provided	RCV000351422;RCV000725739	MedGen;OMIM;Orphanet	C4225379;616299;ORPHA401862;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs137891647
Clinvar_Rec_2577	rs78372332	Benign/Likely benign	Spastic paraplegia, autosomal dominant;not provided	RCV000280767;RCV000466625	MedGen	CN239430;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148936723
Clinvar_Rec_2578	rs11786417	Benign	Benign Neonatal Epilepsy;Benign familial neonatal seizures	RCV000314411;RCV000369033	MedGen;Orphanet	C0270851;MedGen;ORPHA1949	criteria provided, single submitter	tagSNP	rs11786417
Clinvar_Rec_2579	rs11786417	Benign	Benign Neonatal Epilepsy;Benign familial neonatal seizures	RCV000340625;RCV000378860	MedGen;Orphanet	C0270851;MedGen;ORPHA1949	criteria provided, single submitter	LD derived	rs11785257
Clinvar_Rec_2580	rs764544537	Uncertain significance	Benign familial neonatal seizures;not provided	RCV000532568;RCV000187999	MedGen;Orphanet	CN230162;ORPHA1949;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764544537
Clinvar_Rec_2581	rs863224745	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000197306	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs863224745
Clinvar_Rec_2582	rs781381539	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000705275	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs781381539
Clinvar_Rec_2583	rs886062021	Uncertain significance	Congenital cataract;Sengers syndrome	RCV000404456;RCV000358172	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0009691;79410001;MedGen;212350;ORPHA1369	criteria provided, single submitter	tagSNP	rs886062021
Clinvar_Rec_2584	rs1327708224	Uncertain significance	Pitt-Hopkins-like syndrome 1	RCV000644711	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs1327708224
Clinvar_Rec_2585	rs75626260	Benign/Likely benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1;not provided;not specified	RCV000309924;RCV000230878;RCV000858261;RCV000116784	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79777576
Clinvar_Rec_2586	rs75626260	Likely benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000276124;RCV000389200	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	LD derived	rs78018010
Clinvar_Rec_2587	rs75626260	Likely benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000308050;RCV000370200	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	LD derived	rs7791181
Clinvar_Rec_2588	rs75626260	Likely benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000276342;RCV000334190	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	LD derived	rs141005348
Clinvar_Rec_2589	rs267601394	Likely pathogenic	Lymphoma;Malignant melanoma of skin;Non-Hodgkin lymphoma	RCV000423969;RCV000441670;RCV000433156	Human Phenotype Ontology;MeSH;MedGen;Orphanet;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT	HP;D008223;C0024299;ORPHA223735;MeSH;C0151779;93655004;Human Phenotype Ontology;C4721532;605027;1929004	no assertion criteria provided	tagSNP	rs267601394
Clinvar_Rec_2590	rs267601394	Likely pathogenic	Lymphoma;Malignant melanoma of skin;Non-Hodgkin lymphoma	RCV000430342;RCV000440575;RCV000422926	Human Phenotype Ontology;MeSH;MedGen;Orphanet;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT	HP;D008223;C0024299;ORPHA223735;MeSH;C0151779;93655004;Human Phenotype Ontology;C4721532;605027;1929004	no assertion criteria provided	tagSNP	rs267601394
Clinvar_Rec_2591	rs1057517685	Pathogenic	Combined oxidative phosphorylation deficiency 26	RCV000412548	MedGen;OMIM;Orphanet	C4225290;616539;ORPHA477684	no assertion criteria provided	tagSNP	rs1057517685
Clinvar_Rec_2592	rs143031135	Benign/Likely benign	Emery-Dreifuss muscular dystrophy;not provided	RCV000302885;RCV000529937	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143031135
Clinvar_Rec_2593	rs34393543	Benign/Likely benign	Emery-Dreifuss muscular dystrophy;not provided	RCV000357720;RCV000544833	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34393543
Clinvar_Rec_2594	rs1555452706	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000647536	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	tagSNP	rs1555452706
Clinvar_Rec_2595	rs150946074	Benign/Likely benign	Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000319670;RCV000528201;RCV000267434	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150946074
Clinvar_Rec_2596	rs750371615	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000698887	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	tagSNP	rs750371615
Clinvar_Rec_2597	rs373828834	Uncertain significance	Emery-Dreifuss muscular dystrophy	RCV000306265	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs373828834
Clinvar_Rec_2598	rs566182360	Uncertain significance	Emery-Dreifuss muscular dystrophy	RCV000259580	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs566182360
Clinvar_Rec_2599	rs566182360	Benign/Likely benign	Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000324194;RCV000545775;RCV000517612	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs566182360
Clinvar_Rec_2600	rs200618488	Likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000647562	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	tagSNP	rs200618488
Clinvar_Rec_2601	rs72724498	Benign/Likely benign	Elliptocytosis;Spherocytosis, Dominant;not specified	RCV000353842;RCV000404281;RCV000756707	Human Phenotype Ontology;MedGen	HP;C0427480;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72724498
Clinvar_Rec_2602	rs886050633	Uncertain significance	Pheochromocytoma	RCV000312410	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs886050633
Clinvar_Rec_2603	rs183428804	Benign	Pheochromocytoma	RCV000364721	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs183428804
Clinvar_Rec_2604	rs1555340265	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	RCV000639337	MedGen;Orphanet	C1708353;ORPHA29072	criteria provided, single submitter	tagSNP	rs1555340265
Clinvar_Rec_2605	rs114217628	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;not provided;not specified	RCV000399465;RCV000713440;RCV000612290	MedGen	CN239433;MedGen	criteria provided, conflicting interpretations	LD derived	rs76728509
Clinvar_Rec_2606	rs114217628	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;not provided;not specified	RCV000262977;RCV000713437;RCV000604015	MedGen	CN239433;MedGen	criteria provided, conflicting interpretations	LD derived	rs34852231
Clinvar_Rec_2607	rs362389	Likely benign	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease	RCV000383864;RCV000347347	MedGen;Orphanet	CN239310;MedGen;ORPHA1020	criteria provided, single submitter	tagSNP	rs362389
Clinvar_Rec_2608	rs186752250	Likely benign	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease	RCV000265726;RCV000309268	MedGen;Orphanet	CN239310;MedGen;ORPHA1020	criteria provided, single submitter	tagSNP	rs186752250
Clinvar_Rec_2609	rs117311919	Uncertain significance	Methylmalonate semialdehyde dehydrogenase deficiency	RCV000324573	MedGen;OMIM;Orphanet	C3279840;614105;ORPHA289307	criteria provided, single submitter	tagSNP	rs117311919
Clinvar_Rec_2610	rs3742803	Benign/Likely benign	Microphthalmia, isolated 2;Microphthalmia, isolated 6;VSX2-related Microphthalmia;not provided;not specified	RCV000530264;RCV000299152;RCV000394769;RCV000828982;RCV000179037	MedGen;OMIM;OMIM	C1864720;610093;MedGen;613517;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75395981
Clinvar_Rec_2611	rs547473623	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000477251	MedGen	CN229796	criteria provided, single submitter	LD derived	rs566653064
Clinvar_Rec_2612	rs1554200990	Likely pathogenic	Inborn genetic diseases	RCV000623295	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554200990
Clinvar_Rec_2613	rs1562173999	Uncertain significance	Oculodentodigital dysplasia, autosomal recessive	RCV000698767	MedGen;OMIM	C2749477;257850	criteria provided, single submitter	tagSNP	rs1562173999
Clinvar_Rec_2614	rs1057518960	Likely pathogenic	4-5 finger syndactyly;Cleft upper lip;Edema of the dorsum of feet;Finger syndactyly;Narrow nasal bridge;Sparse hair;Underdeveloped nasal alae	RCV000414964;RCV000414964;RCV000414964;RCV000414964;RCV000414964;RCV000414964;RCV000414964	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C4023731;Human Phenotype Ontology;C4020893;Human Phenotype Ontology;C2919341;Human Phenotype Ontology;C0221352;Human Phenotype Ontology;C4551564;Human Phenotype Ontology;C1837770;Human Phenotype Ontology;C1834055	criteria provided, single submitter	tagSNP	rs1057518960
Clinvar_Rec_2615	rs875989815	Uncertain significance	Erythrokeratodermia variabilis et progressiva 3;Oculodentodigital dysplasia, autosomal recessive	RCV000185624;RCV000703618	MedGen;OMIM;OMIM	C4479619;617525;MedGen;257850	criteria provided, single submitter	tagSNP	rs875989815
Clinvar_Rec_2616	rs57946868	Benign/Likely benign	Hypoplastic left heart syndrome 1;Non-syndromic syndactyly;Oculodentodigital dysplasia;Oculodentodigital dysplasia, autosomal recessive;not specified	RCV000402105;RCV000314566;RCV000350764;RCV000465870;RCV000146001	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM	C4551854;241550;Human Phenotype Ontology;C0039075;ORPHA90025;MedGen;164200;ORPHA2710;MedGen;257850;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs57946868
Clinvar_Rec_2617	rs139128953	Likely benign	Hypoplastic left heart syndrome 1;Non-syndromic syndactyly;Oculodentodigital dysplasia	RCV000381548;RCV000328392;RCV000289708	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet	C4551854;241550;Human Phenotype Ontology;C0039075;ORPHA90025;MedGen;164200;ORPHA2710	criteria provided, single submitter	tagSNP	rs139128953
Clinvar_Rec_2618	rs886061034	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000323669	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs886061034
Clinvar_Rec_2619	rs11154648	Benign	Arterial calcification, generalized, of infancy, 1;Hypophosphatemic Rickets, Recessive	RCV000365055;RCV000396259	MedGen;OMIM	C4551985;208000;MedGen	criteria provided, single submitter	tagSNP	rs11154648
Clinvar_Rec_2620	rs34410516	other	HEMOGLOBIN TATRAS	RCV000017207	-	-	no assertion criteria provided	tagSNP	rs34410516
Clinvar_Rec_2621	rs540801393	Conflicting interpretations of pathogenicity	HEMOGLOBIN HEKINAN;not provided;not specified	RCV000017047;RCV000507741;RCV001000510	na;MedGen	CN517202;MedGen	criteria provided, conflicting interpretations	LD derived	rs41530750
Clinvar_Rec_2622	rs587776627	Pathogenic	Hepatocellular carcinoma	RCV000006408	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C2239176;114550;ORPHA88673;187769009;25370001	no assertion criteria provided	tagSNP	rs587776627
Clinvar_Rec_2623	rs574610642	Uncertain significance	Myopathy, centronuclear, 4	RCV000650514	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	LD derived	rs144643237
Clinvar_Rec_2624	rs587777341	Pathogenic	Spinocerebellar ataxia, autosomal recessive 16	RCV000114999	MedGen;OMIM;Orphanet	C4014261;615768;ORPHA412057	no assertion criteria provided	tagSNP	rs587777341
Clinvar_Rec_2625	rs748984540	Pathogenic	SPINOCEREBELLAR ATAXIA 48	RCV000721117	MedGen;OMIM	C4748158;618093	no assertion criteria provided	tagSNP	rs748984540
Clinvar_Rec_2626	rs750277154	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided	RCV000796351;RCV000796351;RCV000711121	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs750277154
Clinvar_Rec_2627	rs536938912	Likely benign	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000551796;RCV000551796	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	LD derived	rs375894182
Clinvar_Rec_2628	rs10903009	Likely benign	Osteopetrosis	RCV000345757	Human Phenotype Ontology;MedGen;Orphanet	HP;C0029454;ORPHA2781	criteria provided, single submitter	tagSNP	rs10903009
Clinvar_Rec_2629	rs60516531	Likely benign	Osteopetrosis	RCV000395291	Human Phenotype Ontology;MedGen;Orphanet	HP;C0029454;ORPHA2781	criteria provided, single submitter	tagSNP	rs60516531
Clinvar_Rec_2630	rs1053730	Benign	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	RCV000292597	MedGen;OMIM;Orphanet	C1849437;266920;ORPHA140969	criteria provided, single submitter	tagSNP	rs1053730
Clinvar_Rec_2631	rs566539126	Uncertain significance	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	RCV000351286	MedGen;OMIM;Orphanet	C1849437;266920;ORPHA140969	criteria provided, single submitter	LD derived	rs143899594
Clinvar_Rec_2632	rs200905935	not provided	Tuberous sclerosis syndrome	RCV000043467	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	LD derived	rs45517312
Clinvar_Rec_2633	rs201090527	Uncertain significance	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	RCV000278956	MedGen;OMIM;Orphanet	C1849437;266920;ORPHA140969	criteria provided, single submitter	LD derived	rs571556177
Clinvar_Rec_2634	rs201090527	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000572414;RCV000589806	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs397515318
Clinvar_Rec_2635	rs201090527	not provided	Tuberous sclerosis syndrome	RCV000055519	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	LD derived	rs397515318
Clinvar_Rec_2636	rs555400420	Uncertain significance	Tuberous sclerosis 2;not provided	RCV000695827;RCV000480205	MedGen;OMIM	C1860707;613254;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs553942147
Clinvar_Rec_2637	rs555400420	Uncertain significance	Tuberous sclerosis 2	RCV000644347	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	LD derived	rs553942147
Clinvar_Rec_2638	rs1555506986	Uncertain significance	Tuberous sclerosis 2	RCV000529435	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555506986
Clinvar_Rec_2639	rs886051790	Conflicting interpretations of pathogenicity	Tuberous sclerosis syndrome;not provided	RCV000309089;RCV000644137	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886051790
Clinvar_Rec_2640	rs886051790	Uncertain significance	Tuberous sclerosis 2	RCV000689366	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs886051790
Clinvar_Rec_2641	rs876658215	Likely benign	Hereditary cancer-predisposing syndrome	RCV000213218	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658215
Clinvar_Rec_2642	rs397515022	not provided	Tuberous sclerosis syndrome	RCV000055240	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515022
Clinvar_Rec_2643	rs137854018	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000545419;RCV000042509	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs137854018
Clinvar_Rec_2644	rs397514978	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000814891;RCV000055175	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs397514978
Clinvar_Rec_2645	rs137854393	not provided	Tuberous sclerosis syndrome	RCV000042794	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854393
Clinvar_Rec_2646	rs137854268	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	RCV001020829;RCV000042793;RCV000536324	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs137854268
Clinvar_Rec_2647	rs749870079	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001020836;RCV000614974	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749870079
Clinvar_Rec_2648	rs1567511020	Uncertain significance	Tuberous sclerosis 2	RCV000698572	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1567511020
Clinvar_Rec_2649	rs45517309	not provided	Lymphangiomyomatosis;Tuberous sclerosis syndrome	RCV000042531;RCV000042531	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0751674;606690;ORPHA538;73017001;MedGen;ORPHA805;7199000	no assertion provided	tagSNP	rs45517309
Clinvar_Rec_2650	rs45517320	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified	RCV000130814;RCV000234232;RCV000054866;RCV000034654;RCV000118705	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;613254;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45517320
Clinvar_Rec_2651	rs137854142	not provided	Tuberous sclerosis syndrome	RCV000043299	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854142
Clinvar_Rec_2652	rs878854097	Likely benign	Tuberous sclerosis 2	RCV000559849	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs878854097
Clinvar_Rec_2653	rs1555513553	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555513553
Clinvar_Rec_2654	rs876659087	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV000216974;RCV000644390	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, conflicting interpretations	tagSNP	rs876659087
Clinvar_Rec_2655	rs876659087	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021577;RCV000226706	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659087
Clinvar_Rec_2656	rs876658217	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000221634;RCV000913471	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658217
Clinvar_Rec_2657	rs1057521540	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001021963;RCV000464285;RCV000427590	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057521540
Clinvar_Rec_2658	rs1057521540	Likely benign	Tuberous sclerosis 2	RCV000644373	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1057521540
Clinvar_Rec_2659	rs137854132	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000989436;RCV000043349	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs137854132
Clinvar_Rec_2660	rs1403321543	Uncertain significance	Tuberous sclerosis 2	RCV000644148	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1403321543
Clinvar_Rec_2661	rs45517336	not provided	Tuberous sclerosis syndrome	RCV000043389	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45517336
Clinvar_Rec_2662	rs796053498	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000574084;RCV000475369	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs796053498
Clinvar_Rec_2663	rs1366814192	Uncertain significance	History of neurodevelopmental disorder	RCV000720034	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1366814192
Clinvar_Rec_2664	rs137854227	not provided	Tuberous sclerosis syndrome	RCV000043233	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854227
Clinvar_Rec_2665	rs397515177	drug response	Everolimus response;Tuberous sclerosis syndrome	RCV000590930;RCV000055464	na;MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion criteria provided	tagSNP	rs397515177
Clinvar_Rec_2666	rs397515122	not provided	Tuberous sclerosis syndrome	RCV000055383	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515122
Clinvar_Rec_2667	rs199476095	Pathogenic	Polycystic kidney disease, adult type;not provided	RCV000008681;RCV000788852	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, single submitter	tagSNP	rs199476095
Clinvar_Rec_2668	rs1555455457	Pathogenic	Polycystic kidney disease, adult type;not provided	RCV000989457;RCV000518367	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555455457
Clinvar_Rec_2669	rs143784787	Benign	Polycystic kidney disease, adult type;not provided;not specified	RCV000999855;RCV000712613;RCV000247182	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143784787
Clinvar_Rec_2670	rs552576130	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000572414;RCV000589806	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs397515318
Clinvar_Rec_2671	rs552576130	not provided	Tuberous sclerosis syndrome	RCV000055519	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	LD derived	rs397515318
Clinvar_Rec_2672	rs886051807	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000370740	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs886051807
Clinvar_Rec_2673	rs35089233	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000272311	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs35089233
Clinvar_Rec_2674	rs753638942	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000323574	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs753638942
Clinvar_Rec_2675	rs373150694	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000405307	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs373150694
Clinvar_Rec_2676	rs13339105	Benign/Likely benign	Myoclonic epilepsy, familial infantile;not specified	RCV000273908;RCV000128361	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs13339105
Clinvar_Rec_2677	rs1178639246	Likely benign	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1	RCV000651575;RCV000651575;RCV000651575	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063	criteria provided, single submitter	tagSNP	rs1178639246
Clinvar_Rec_2678	rs1567411503	Uncertain significance	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1	RCV000688677;RCV000688677;RCV000688677	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063	criteria provided, single submitter	tagSNP	rs1567411503
Clinvar_Rec_2679	rs1555501245	Uncertain significance	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1	RCV000530446;RCV000530446;RCV000530446	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063	criteria provided, single submitter	tagSNP	rs1555501245
Clinvar_Rec_2680	rs1355375251	Uncertain significance	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1	RCV000693876;RCV000693876;RCV000693876	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063	criteria provided, single submitter	tagSNP	rs1355375251
Clinvar_Rec_2681	rs541093768	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000279762	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	tagSNP	rs541093768
Clinvar_Rec_2682	rs531083004	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000364582	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	tagSNP	rs531083004
Clinvar_Rec_2683	rs538843048	Conflicting interpretations of pathogenicity	Polycystic kidney disease, adult type;not provided;not specified	RCV000764031;RCV000756505;RCV000500290	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, conflicting interpretations	LD derived	rs147992238
Clinvar_Rec_2684	rs560367044	Uncertain significance	Tuberous sclerosis 2;not provided	RCV000695827;RCV000480205	MedGen;OMIM	C1860707;613254;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs553942147
Clinvar_Rec_2685	rs560367044	Uncertain significance	Tuberous sclerosis 2	RCV000644347	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	LD derived	rs553942147
Clinvar_Rec_2686	rs117151961	Uncertain significance	Familial Mediterranean fever	RCV000344931	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs181380218
Clinvar_Rec_2687	rs766365739	Uncertain significance	Familial Mediterranean fever	RCV000342558	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs766365739
Clinvar_Rec_2688	rs560496227	Uncertain significance	Familial Mediterranean fever	RCV000398516	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs560496227
Clinvar_Rec_2689	rs104895089	Likely pathogenic	Familial Mediterranean fever	RCV000083732	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs104895089
Clinvar_Rec_2690	rs546563559	Uncertain significance	Fanconi anemia	RCV000333188	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs540288743
Clinvar_Rec_2691	rs75773027	Likely benign	Fanconi anemia	RCV000364522	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs75773027
Clinvar_Rec_2692	rs75773027	Likely benign	Fanconi anemia	RCV000353124	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs75146816
Clinvar_Rec_2693	rs75773027	Likely benign	Fanconi anemia	RCV000341228	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs76661336
Clinvar_Rec_2694	rs75773027	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000266398;RCV000857410;RCV000252998	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3827530
Clinvar_Rec_2695	rs75773027	Benign/Likely benign	Fanconi anemia;not specified	RCV000345444;RCV000243947	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78637028
Clinvar_Rec_2696	rs75773027	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000311234;RCV000857411;RCV000248623	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74640850
Clinvar_Rec_2697	rs886051974	Uncertain significance	Fanconi anemia	RCV000361166	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs886051974
Clinvar_Rec_2698	rs75146816	Likely benign	Fanconi anemia	RCV000353124	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs75146816
Clinvar_Rec_2699	rs75146816	Likely benign	Fanconi anemia	RCV000364522	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs75773027
Clinvar_Rec_2700	rs75146816	Likely benign	Fanconi anemia	RCV000341228	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs76661336
Clinvar_Rec_2701	rs75146816	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000266398;RCV000857410;RCV000252998	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3827530
Clinvar_Rec_2702	rs75146816	Benign/Likely benign	Fanconi anemia;not specified	RCV000345444;RCV000243947	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78637028
Clinvar_Rec_2703	rs75146816	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000311234;RCV000857411;RCV000248623	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74640850
Clinvar_Rec_2704	rs760435859	Uncertain significance	Fanconi anemia	RCV000470116	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs760435859
Clinvar_Rec_2705	rs199838670	Uncertain significance	Fanconi anemia	RCV000553409	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs199838670
Clinvar_Rec_2706	rs1060501797	Uncertain significance	Fanconi anemia	RCV000461614	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501797
Clinvar_Rec_2707	rs1060501799	Uncertain significance	Fanconi anemia	RCV000462465	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501799
Clinvar_Rec_2708	rs1060501796	Uncertain significance	Fanconi anemia	RCV000458642	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501796
Clinvar_Rec_2709	rs145137472	Uncertain significance	Fanconi anemia;Fanconi anemia, complementation group P;not provided	RCV000362095;RCV001027802;RCV000762181	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;613951;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145137472
Clinvar_Rec_2710	rs1060501794	Uncertain significance	Fanconi anemia	RCV000473780	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501794
Clinvar_Rec_2711	rs143730668	Uncertain significance	Fanconi anemia;Fanconi anemia, complementation group P	RCV000465266;RCV000764061	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;613951	criteria provided, multiple submitters, no conflicts	tagSNP	rs143730668
Clinvar_Rec_2712	rs143730668	Likely benign	Fanconi anemia	RCV000457382	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs565391485
Clinvar_Rec_2713	rs143730668	Uncertain significance	Fanconi anemia;Fanconi anemia, complementation group P	RCV000471989;RCV000764065	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;613951	criteria provided, multiple submitters, no conflicts	LD derived	rs551823420
Clinvar_Rec_2714	rs201622632	Uncertain significance	Fanconi anemia	RCV000557806	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs201622632
Clinvar_Rec_2715	rs778569160	Uncertain significance	Fanconi anemia	RCV000228636	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs778569160
Clinvar_Rec_2716	rs144614070	Conflicting interpretations of pathogenicity	Fanconi anemia;Fanconi anemia, complementation group A;not specified	RCV000468758;RCV000989505;RCV000501642	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227650;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144614070
Clinvar_Rec_2717	rs1003342051	Uncertain significance	Fanconi anemia	RCV000470393	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1003342051
Clinvar_Rec_2718	rs780117582	Uncertain significance	Fanconi anemia	RCV000526334	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs780117582
Clinvar_Rec_2719	rs532855661	Likely benign	History of neurodevelopmental disorder	RCV000719728	MedGen	C2711754	criteria provided, single submitter	LD derived	rs542552676
Clinvar_Rec_2720	rs895608889	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000723280	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	no assertion criteria provided	tagSNP	rs895608889
Clinvar_Rec_2721	rs55916120	Benign	History of neurodevelopmental disorder;Rubinstein-Taybi syndrome 1;not specified	RCV000715519;RCV000544854;RCV000081072	MedGen;OMIM;Orphanet	C2711754;MedGen;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs55916120
Clinvar_Rec_2722	rs587778214	Likely benign	History of neurodevelopmental disorder;not specified	RCV000719490;RCV000120605	MedGen	C2711754;MedGen	criteria provided, single submitter	tagSNP	rs587778214
Clinvar_Rec_2723	rs763852812	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000719123;RCV000512952	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763852812
Clinvar_Rec_2724	rs587783504	Conflicting interpretations of pathogenicity	Rubinstein-Taybi syndrome 1;not provided	RCV000145768;RCV000177560	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587783504
Clinvar_Rec_2725	rs61731405	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716992;RCV000870608;RCV000081059	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61731405
Clinvar_Rec_2726	rs587783496	Likely pathogenic	Rubinstein-Taybi syndrome 1	RCV000145756	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs587783496
Clinvar_Rec_2727	rs1567272940	no interpretation for the single variant	Rubinstein-Taybi syndrome 1	RCV000754902	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	no interpretation for the single variant	tagSNP	rs1567272940
Clinvar_Rec_2728	rs61731377	Likely benign	History of neurodevelopmental disorder	RCV000716863	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs61731377
Clinvar_Rec_2729	rs587783465	Pathogenic	Rubinstein-Taybi syndrome 1	RCV000145717	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs587783465
Clinvar_Rec_2730	rs121434624	Pathogenic	Rubinstein-Taybi syndrome 1	RCV000010035	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	no assertion criteria provided	tagSNP	rs121434624
Clinvar_Rec_2731	rs150229705	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717995;RCV000878920;RCV000081049	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150229705
Clinvar_Rec_2732	rs587783466	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000145718	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs587783466
Clinvar_Rec_2733	rs200726858	Uncertain significance	Fanconi anemia	RCV000630860	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs141167501
Clinvar_Rec_2734	rs77110218	Uncertain significance	Gamma-aminobutyric acid transaminase deficiency	RCV000316898	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs77110218
Clinvar_Rec_2735	rs77110218	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not specified	RCV000304288;RCV000426611	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	LD derived	rs9936097
Clinvar_Rec_2736	rs886052442	Uncertain significance	Gamma-aminobutyric acid transaminase deficiency	RCV000331791	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs886052442
Clinvar_Rec_2737	rs4985036	Benign	Gamma-aminobutyric acid transaminase deficiency	RCV000271048	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs4985036
Clinvar_Rec_2738	rs886052443	Uncertain significance	Gamma-aminobutyric acid transaminase deficiency	RCV000380814	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs886052443
Clinvar_Rec_2739	rs387906824	Uncertain significance	Congenital disorder of glycosylation, type Ia	RCV000023149	MedGen;OMIM;Orphanet	C0349653;212065;ORPHA79318	criteria provided, single submitter	tagSNP	rs387906824
Clinvar_Rec_2740	rs2075827	Likely benign	Congenital disorder of glycosylation	RCV000311429	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs2075827
Clinvar_Rec_2741	rs2075827	Likely benign	Congenital disorder of glycosylation	RCV000276181	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs2072688
Clinvar_Rec_2742	rs2075827	Likely benign	Congenital disorder of glycosylation	RCV000317823	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs1056898
Clinvar_Rec_2743	rs886052459	Uncertain significance	Congenital disorder of glycosylation	RCV000370720	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886052459
Clinvar_Rec_2744	rs553522916	Uncertain significance	Congenital disorder of glycosylation	RCV000381082	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs553522916
Clinvar_Rec_2745	rs72766379	Uncertain significance	Congenital disorder of glycosylation	RCV000376802	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs72766379
Clinvar_Rec_2746	rs886052547	Uncertain significance	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000405729	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs886052547
Clinvar_Rec_2747	rs777328885	Likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000639591	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs777328885
Clinvar_Rec_2748	rs750649530	Uncertain significance	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000348486	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, multiple submitters, no conflicts	tagSNP	rs750649530
Clinvar_Rec_2749	rs762984731	Likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	RCV000558529;RCV000842251	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762984731
Clinvar_Rec_2750	rs527686036	Benign/Likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided;not specified	RCV000367125;RCV000858591;RCV000187625	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs527686036
Clinvar_Rec_2751	rs886051645	Uncertain significance	Bare lymphocyte syndrome 2	RCV000284543	MedGen;OMIM;Orphanet	C2931418;209920;ORPHA572	criteria provided, single submitter	tagSNP	rs886051645
Clinvar_Rec_2752	rs368574479	Uncertain significance	Charcot-Marie-Tooth disease, type 1C;Charcot-Marie-Tooth disease, type I	RCV000816653;RCV000310800	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0270913;601098;ORPHA101083;4183003;MedGen;ORPHA65753;398040009	criteria provided, multiple submitters, no conflicts	tagSNP	rs368574479
Clinvar_Rec_2753	rs767809270	Uncertain significance	Charcot-Marie-Tooth disease, type 1C	RCV000639573	MedGen;OMIM;Orphanet;SNOMED CT	C0270913;601098;ORPHA101083;4183003	criteria provided, single submitter	tagSNP	rs767809270
Clinvar_Rec_2754	rs762147159	Uncertain significance	Xeroderma pigmentosum	RCV000380080	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs762147159
Clinvar_Rec_2755	rs767408205	Uncertain significance	Cockayne syndrome;Fanconi anemia, complementation group Q;Xeroderma pigmentosum, group F	RCV000651476;RCV000651476;RCV000651476	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0009207;ORPHA191;21086008;MedGen;615272;MedGen;278760;ORPHA276264;42530008	criteria provided, single submitter	tagSNP	rs767408205
Clinvar_Rec_2756	rs761699907	Uncertain significance	Xeroderma pigmentosum	RCV000327964	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs761699907
Clinvar_Rec_2757	rs541739848	Uncertain significance	Xeroderma pigmentosum	RCV000364610	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs541739848
Clinvar_Rec_2758	rs116393177	Likely benign	Leukoencephalopathy with vanishing white matter;Lynch syndrome	RCV000331175;RCV000275001	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen;ORPHA144	criteria provided, single submitter	tagSNP	rs116393177
Clinvar_Rec_2759	rs778369841	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000686963	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs778369841
Clinvar_Rec_2760	rs769450598	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000525834	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs769450598
Clinvar_Rec_2761	rs201453923	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000691461	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs201453923
Clinvar_Rec_2762	rs376219506	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000553934	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs376219506
Clinvar_Rec_2763	rs77687901	Likely benign	MLH3-Related Lynch Syndrome	RCV000655407	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs77687901
Clinvar_Rec_2764	rs141079562	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000226820	MedGen	CN229796	criteria provided, single submitter	tagSNP	rs141079562
Clinvar_Rec_2765	rs34012003	Benign/Likely benign	Lynch syndrome;not provided;not specified	RCV000331433;RCV000204364;RCV000584205	MedGen;Orphanet	C1333990;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11556091
Clinvar_Rec_2766	rs200772476	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000655388	MedGen	CN229796	criteria provided, single submitter	LD derived	rs201931206
Clinvar_Rec_2767	rs200880083	Uncertain significance	MLH3-Related Lynch Syndrome	RCV000530912	MedGen	CN229796	criteria provided, single submitter	LD derived	rs148876417
Clinvar_Rec_2768	rs1322268460	Benign	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	RCV000274666	MedGen;OMIM;Orphanet	C1856972;225790;ORPHA221126	criteria provided, single submitter	tagSNP	rs1322268460
Clinvar_Rec_2769	rs188459017	Uncertain significance	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	RCV000259478	MedGen;OMIM;Orphanet	C1856972;225790;ORPHA221126	criteria provided, single submitter	tagSNP	rs188459017
Clinvar_Rec_2770	rs560085664	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000302684	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs560085664
Clinvar_Rec_2771	rs886050793	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000353916	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs886050793
Clinvar_Rec_2772	rs1566677868	Uncertain significance	Loeys-Dietz syndrome 4	RCV000702478	MedGen;OMIM	C3553762;614816	criteria provided, single submitter	tagSNP	rs1566677868
Clinvar_Rec_2773	rs886050818	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	RCV000380160	MedGen	CN239352	criteria provided, single submitter	tagSNP	rs886050818
Clinvar_Rec_2774	rs886050874	Uncertain significance	Leber congenital amaurosis;Retinitis Pigmentosa, Recessive	RCV000280287;RCV000396396	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;MedGen	criteria provided, single submitter	tagSNP	rs886050874
Clinvar_Rec_2775	rs370701548	Uncertain significance	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	RCV000351730	MedGen;OMIM;Orphanet	C3150099;201750;ORPHA63269	criteria provided, single submitter	tagSNP	rs370701548
Clinvar_Rec_2776	rs782711779	Uncertain significance	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	RCV000407762	MedGen;OMIM;Orphanet	C3150099;201750;ORPHA63269	criteria provided, single submitter	tagSNP	rs782711779
Clinvar_Rec_2777	rs1554616630	Likely pathogenic	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56	RCV000505692	MedGen;OMIM	C4540034;617665	criteria provided, single submitter	tagSNP	rs1554616630
Clinvar_Rec_2778	rs371196837	Uncertain significance	Platelet glycoprotein IV deficiency	RCV000358547	MedGen;OMIM	C1842090;608404	criteria provided, single submitter	tagSNP	rs371196837
Clinvar_Rec_2779	rs1323924657	Likely benign	Cardiovascular phenotype	RCV000619263	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1323924657
Clinvar_Rec_2780	rs318240751	Uncertain significance	Hypogonadotropic hypogonadism 16 with or without anosmia;not provided	RCV000987901;RCV000059790	MedGen;OMIM	C3554021;614897;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs318240751
Clinvar_Rec_2781	rs796052948	Uncertain significance	Progressive myoclonic epilepsy;not provided	RCV001047392;RCV000188807	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796052948
Clinvar_Rec_2782	rs120074157	Pathogenic	Fraser syndrome 1	RCV000002944	MedGen;OMIM	C4551480;219000	no assertion criteria provided	tagSNP	rs120074157
Clinvar_Rec_2783	rs886059663	Uncertain significance	Hyaline fibromatosis syndrome	RCV000401838	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C2745948;228600;ORPHA2028;238861002;238867003	criteria provided, single submitter	tagSNP	rs886059663
Clinvar_Rec_2784	rs377755509	Uncertain significance	Epilepsy, progressive myoclonic, 10	RCV000685135	MedGen;OMIM;Orphanet	C4225258;616640;ORPHA324290	criteria provided, single submitter	tagSNP	rs377755509
Clinvar_Rec_2785	rs1560481395	Uncertain significance	Epilepsy, progressive myoclonic, 10	RCV000701949	MedGen;OMIM;Orphanet	C4225258;616640;ORPHA324290	criteria provided, single submitter	tagSNP	rs1560481395
Clinvar_Rec_2786	rs145801680	Uncertain significance	Coenzyme Q10 deficiency, primary	RCV000264486	MedGen;Orphanet	CN229570;ORPHA35656	criteria provided, single submitter	tagSNP	rs145801680
Clinvar_Rec_2787	rs2278741	Benign	Holoprosencephaly sequence	RCV000314058	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs2278741
Clinvar_Rec_2788	rs121913046	Pathogenic	Trichothiodystrophy 2, photosensitive	RCV000018052	MedGen;OMIM	C4225344;616390	no assertion criteria provided	tagSNP	rs121913046
Clinvar_Rec_2789	rs548020208	Uncertain significance	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	RCV000315159	MedGen;OMIM	C2674321;176860	criteria provided, single submitter	tagSNP	rs548020208
Clinvar_Rec_2790	rs1558718572	Likely pathogenic	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	RCV000702225	MedGen;OMIM	C2674321;176860	criteria provided, single submitter	tagSNP	rs1558718572
Clinvar_Rec_2791	rs149101001	Uncertain significance	Muscular dystrophy, limb-girdle, type 2W	RCV000652650	MedGen;OMIM;Orphanet	C4225192;616827;ORPHA466801	criteria provided, single submitter	tagSNP	rs149101001
Clinvar_Rec_2792	rs17849384	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided	RCV000247931;RCV000328795;RCV000383341;RCV000857608	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34370932
Clinvar_Rec_2793	rs17849384	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided;not specified	RCV000248840;RCV000398846;RCV000301532;RCV000845421;RCV000171783	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34956633
Clinvar_Rec_2794	rs17849384	Likely benign	Long QT syndrome;Romano-Ward syndrome	RCV000264892;RCV000322405	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	LD derived	rs112467497
Clinvar_Rec_2795	rs542223871	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000279005;RCV000336359	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs542223871
Clinvar_Rec_2796	rs777495335	Uncertain significance	Long QT syndrome	RCV000538769	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs777495335
Clinvar_Rec_2797	rs1554404018	Likely benign	Cardiovascular phenotype	RCV000621953	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554404018
Clinvar_Rec_2798	rs1554405190	Uncertain significance	Long QT syndrome	RCV000631679	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1554405190
Clinvar_Rec_2799	rs763924466	Likely benign	Cardiovascular phenotype	RCV000248302	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs763924466
Clinvar_Rec_2800	rs886062470	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000270139;RCV000325248	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886062470
Clinvar_Rec_2801	rs1989779	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 11;Romano-Ward syndrome;not provided;not specified	RCV000243269;RCV000294066;RCV000609828;RCV000388439;RCV000860126;RCV000123594	MedGen;MedGen;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;611820;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1989779
Clinvar_Rec_2802	rs1989779	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided;not specified	RCV000251839;RCV000339876;RCV000306061;RCV000860344;RCV000123583	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35759833
Clinvar_Rec_2803	rs1989779	Benign	Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation	RCV000383665;RCV000347803	MedGen;OMIM;OMIM	C1838141;600419;MedGen;116860	criteria provided, single submitter	LD derived	rs62467792
Clinvar_Rec_2804	rs757261572	Uncertain significance	Long QT syndrome;not specified	RCV000701930;RCV000506404	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757261572
Clinvar_Rec_2805	rs747689685	Uncertain significance	Long QT syndrome	RCV000528417	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs747689685
Clinvar_Rec_2806	rs1554422424	Likely benign	Long QT syndrome	RCV000535449	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1554422424
Clinvar_Rec_2807	rs150379637	Likely benign	Cardiovascular phenotype;not provided	RCV000243341;RCV000171718	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150379637
Clinvar_Rec_2808	rs750169072	Likely benign	Long QT syndrome	RCV000631845	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs750169072
Clinvar_Rec_2809	rs139468199	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Long QT syndrome;not specified	RCV000620424;RCV000472477;RCV000170614	MedGen;MedGen;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139468199
Clinvar_Rec_2810	rs115624293	Benign/Likely benign	Cardiovascular phenotype;not provided	RCV000621785;RCV000467223	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115624293
Clinvar_Rec_2811	rs1554435152	Uncertain significance	Long QT syndrome	RCV000531577	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1554435152
Clinvar_Rec_2812	rs1274983523	Uncertain significance	Long QT syndrome	RCV000631585	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1274983523
Clinvar_Rec_2813	rs76177450	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 11;not provided	RCV000853018;RCV000243812;RCV000853018;RCV000624953;RCV000171722	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;C0023976;9651007;MedGen;611820;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76177450
Clinvar_Rec_2814	rs150968594	Likely benign	Cardiovascular phenotype;not provided	RCV000619447;RCV000866044	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150968594
Clinvar_Rec_2815	rs150968594	Uncertain significance	Cardiovascular phenotype	RCV000620623	MedGen	CN230736	criteria provided, single submitter	LD derived	rs375876545
Clinvar_Rec_2816	rs886062476	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000366394;RCV000269240	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886062476
Clinvar_Rec_2817	rs543634397	Likely benign	Long QT syndrome;not provided	RCV000157104;RCV000869215	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, single submitter	tagSNP	rs543634397
Clinvar_Rec_2818	rs1554454272	Uncertain significance	Cardiovascular phenotype	RCV000622175	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554454272
Clinvar_Rec_2819	rs886062477	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000371789;RCV000319474	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886062477
Clinvar_Rec_2820	rs999822458	Uncertain significance	Long QT syndrome	RCV000700676	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs999822458
Clinvar_Rec_2821	rs61757675	Likely benign	Cardiovascular phenotype;not provided	RCV000619074;RCV000861514	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61757675
Clinvar_Rec_2822	rs749067142	Pathogenic/Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B	RCV000169270;RCV001004520;RCV001004520	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen;214100;ORPHA912;MedGen;601539;ORPHA772	criteria provided, multiple submitters, no conflicts	tagSNP	rs749067142
Clinvar_Rec_2823	rs786204544	Likely pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000169257	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs786204544
Clinvar_Rec_2824	rs878855337	Pathogenic/Likely pathogenic	Ataxia-pancytopenia syndrome	RCV000234841	MedGen;OMIM;Orphanet	C1327919;159550;ORPHA2585	no assertion criteria provided	tagSNP	rs878855337
Clinvar_Rec_2825	rs1554396271	Pathogenic	Inborn genetic diseases	RCV000624627	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554396271
Clinvar_Rec_2826	rs1554396271	Likely pathogenic	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	RCV000691483;RCV000691483	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1554396271
Clinvar_Rec_2827	rs886061834	Uncertain significance	Hereditary hemochromatosis	RCV000267717	MedGen;SNOMED CT	C0392514;35400008	criteria provided, single submitter	tagSNP	rs886061834
Clinvar_Rec_2828	rs886061840	Uncertain significance	Congenital plasminogen activator inhibitor type 1 deficiency	RCV000334382	MedGen;OMIM;Orphanet	C2750067;613329;ORPHA465	criteria provided, single submitter	tagSNP	rs886061840
Clinvar_Rec_2829	rs886055963	Uncertain significance	Spastic paraplegia, autosomal dominant	RCV000260490	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs886055963
Clinvar_Rec_2830	rs201733642	Likely benign	Spastic paraplegia, autosomal dominant	RCV000296855	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs201733642
Clinvar_Rec_2831	rs1800440	Benign/Likely benign	Primary congenital glaucoma;not provided;not specified	RCV000296245;RCV000997117;RCV000153124	Human Phenotype Ontology;MedGen	HP;C1533041;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800440
Clinvar_Rec_2832	rs201181935	Uncertain significance	Glaucoma 3, primary congenital, A;not provided	RCV000490353;RCV000176979	MedGen;OMIM	C1856439;231300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201181935
Clinvar_Rec_2833	rs104894980	not provided	Glaucoma 3, primary congenital, A	RCV000082863	MedGen;OMIM	C1856439;231300	no assertion provided	tagSNP	rs104894980
Clinvar_Rec_2834	rs886056022	Uncertain significance	Gingival fibromatosis;Noonan syndrome	RCV000385901;RCV000333787	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs886056022
Clinvar_Rec_2835	rs758258471	Uncertain significance	Rasopathy	RCV000693949	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs758258471
Clinvar_Rec_2836	rs730881026	Conflicting interpretations of pathogenicity	Rasopathy;not specified	RCV000231740;RCV000159118	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881026
Clinvar_Rec_2837	rs141594736	Likely benign	Noonan syndrome and Noonan-related syndrome;Rasopathy;not provided	RCV000788015;RCV000459983;RCV000159143	MedGen;Orphanet;Orphanet	CN260604;ORPHA98733;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs141594736
Clinvar_Rec_2838	rs730881049	Uncertain significance	Rasopathy;not provided	RCV001048306;RCV000159181	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881049
Clinvar_Rec_2839	rs375550588	Uncertain significance	Noonan syndrome 4;Rasopathy;not specified	RCV000577966;RCV000463473;RCV000592644	MedGen;OMIM;Orphanet	C1853120;610733;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375550588
Clinvar_Rec_2840	rs757213444	Benign	Rasopathy;not provided;not specified	RCV000523182;RCV000859972;RCV000606527	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs757213444
Clinvar_Rec_2841	rs553331572	Benign	Rasopathy;not provided;not specified	RCV000519709;RCV000587456;RCV000728330	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs553331572
Clinvar_Rec_2842	rs727504641	Uncertain significance	Gingival fibromatosis;Gingival fibromatosis 1;Noonan syndrome;Noonan syndrome 4;Rasopathy;not provided;not specified	RCV000376698;RCV000764405;RCV000284494;RCV000764405;RCV000654926;RCV000586070;RCV000155902	Human Phenotype Ontology;MedGen;OMIM;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0016049;MedGen;135300;MeSH;C0028326;ORPHA648;205824006;MedGen;610733;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727504641
Clinvar_Rec_2843	rs1060503524	Uncertain significance	Rasopathy	RCV000474019	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs1060503524
Clinvar_Rec_2844	rs112906251	Benign	Noonan syndrome;not specified	RCV000157012;RCV000128196	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112906251
Clinvar_Rec_2845	rs6544718	Benign	Sitosterolemia;not specified	RCV000282782;RCV000733035	MedGen;Orphanet;SNOMED CT	C0342907;ORPHA2882;238104009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6544718
Clinvar_Rec_2846	rs1136998	Likely benign	Leigh syndrome	RCV000301796	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs1136998
Clinvar_Rec_2847	rs886056052	Uncertain significance	Leigh syndrome	RCV000305130	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs886056052
Clinvar_Rec_2848	rs139493671	Uncertain significance	Leigh syndrome	RCV000357354	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs139493671
Clinvar_Rec_2849	rs1553398334	Likely pathogenic	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	RCV000667374	MedGen;OMIM;Orphanet	C1857355;220111;ORPHA70472	criteria provided, single submitter	tagSNP	rs1553398334
Clinvar_Rec_2850	rs863224054	Uncertain significance	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type;not provided	RCV000985153;RCV000200464	MedGen;OMIM;Orphanet	C1857355;220111;ORPHA70472;MedGen	criteria provided, single submitter	tagSNP	rs863224054
Clinvar_Rec_2851	rs1553360075	Uncertain significance	Myasthenic syndrome, congenital, 22	RCV000553733	MedGen;OMIM	C4479088;616224	criteria provided, single submitter	tagSNP	rs1553360075
Clinvar_Rec_2852	rs769588983	Likely pathogenic	Bardet-Biedl syndrome 12	RCV000665632	MedGen;OMIM	C1859570;615989	criteria provided, single submitter	tagSNP	rs769588983
Clinvar_Rec_2853	rs752254471	Uncertain significance	Bardet-Biedl syndrome;Bardet-Biedl syndrome 12;not provided	RCV000168458;RCV000665631;RCV000584997	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;615989;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752254471
Clinvar_Rec_2854	rs17006092	Benign/Likely benign	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified	RCV000324380;RCV000709678;RCV000857448;RCV000244188	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;209900;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17006092
Clinvar_Rec_2855	rs17006092	Benign/Likely benign	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified	RCV000269545;RCV000709679;RCV000857447;RCV000251885	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;209900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34296401
Clinvar_Rec_2856	rs17006092	Likely benign	Bardet-Biedl syndrome	RCV000319780	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	LD derived	rs74451613
Clinvar_Rec_2857	rs145392789	Conflicting interpretations of pathogenicity	Bardet-Biedl syndrome;not provided	RCV000399304;RCV000863527	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145392789
Clinvar_Rec_2858	rs746478265	Likely pathogenic	Bardet-Biedl syndrome	RCV000693654	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs746478265
Clinvar_Rec_2859	rs1553955672	Pathogenic	Epilepsy, hearing loss, and mental retardation syndrome	RCV000652803	MedGen;OMIM;Orphanet	C4225276;616577;ORPHA457351	criteria provided, single submitter	tagSNP	rs1553955672
Clinvar_Rec_2860	rs760398912	Likely benign	Anophthalmia - microphthalmia	RCV000207371	MedGen	CN235161	criteria provided, single submitter	tagSNP	rs760398912
Clinvar_Rec_2861	rs182705917	Uncertain significance	Macular dystrophy with central cone involvement;not provided	RCV000768269;RCV000188164	MedGen;OMIM	C4015371;616170;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs183450731
Clinvar_Rec_2862	rs183631340	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000346342	MedGen	CN239323	criteria provided, single submitter	LD derived	rs189321020
Clinvar_Rec_2863	rs7664937	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000346342	MedGen	CN239323	criteria provided, single submitter	LD derived	rs189321020
Clinvar_Rec_2864	rs112831813	Conflicting interpretations of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive;not provided;not specified	RCV000286443;RCV000675989;RCV000126758	MedGen	CN239323;MedGen	criteria provided, conflicting interpretations	LD derived	rs112721309
Clinvar_Rec_2865	rs570757797	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000336514	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs570757797
Clinvar_Rec_2866	rs776622815	Likely benign	Seizures;not specified	RCV000716551;RCV000605047	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776622815
Clinvar_Rec_2867	rs193920764	Uncertain significance	Malignant tumor of prostate	RCV000149372	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920764
Clinvar_Rec_2868	rs35810613	Conflicting interpretations of pathogenicity	Retinal dystrophy;not provided;not specified	RCV001074091;RCV000462645;RCV000126766	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, conflicting interpretations	LD derived	rs75039907
Clinvar_Rec_2869	rs35810613	Conflicting interpretations of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive;not provided;not specified	RCV000401436;RCV000675985;RCV000126767	MedGen	CN239323;MedGen	criteria provided, conflicting interpretations	LD derived	rs75039907
Clinvar_Rec_2870	rs756190836	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000551866	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs756190836
Clinvar_Rec_2871	rs368157535	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 4	RCV001014434;RCV000524886	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;610755;ORPHA276152	criteria provided, multiple submitters, no conflicts	tagSNP	rs368157535
Clinvar_Rec_2872	rs1565419320	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000690919	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs1565419320
Clinvar_Rec_2873	rs758843248	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;not provided	RCV001010384;RCV000319383;RCV000875877	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA276161;46724008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs758843248
Clinvar_Rec_2874	rs200422211	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 4	RCV001010623;RCV000463157	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;610755;ORPHA276152	criteria provided, multiple submitters, no conflicts	tagSNP	rs200422211
Clinvar_Rec_2875	rs748854742	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000473902	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs748854742
Clinvar_Rec_2876	rs369554045	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000645514	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs369554045
Clinvar_Rec_2877	rs1455488274	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575416;RCV000527798	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1455488274
Clinvar_Rec_2878	rs142940486	Benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569095;RCV000230114	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142940486
Clinvar_Rec_2879	rs769828807	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 4	RCV001016396;RCV000531563	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;610755;ORPHA276152	criteria provided, multiple submitters, no conflicts	tagSNP	rs769828807
Clinvar_Rec_2880	rs768793049	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000546436	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs768793049
Clinvar_Rec_2881	rs768793049	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000695325	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs768793049
Clinvar_Rec_2882	rs2066827	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;not provided	RCV001019555;RCV000389352;RCV000460482	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA276161;46724008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2066827
Clinvar_Rec_2883	rs2066827	Benign	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 4;not specified	RCV000568315;RCV000295040;RCV000755233;RCV000244836	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA276161;46724008;MedGen;610755;ORPHA276152;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2066827
Clinvar_Rec_2884	rs760081465	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000701352	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs760081465
Clinvar_Rec_2885	rs137985549	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000645516	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs137985549
Clinvar_Rec_2886	rs137985549	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Primary hyperparathyroidism;not provided;not specified	RCV000563908;RCV000291458;RCV000210352;RCV000229951;RCV000500801	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA276161;46724008;Human Phenotype Ontology;C0221002;36348003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137985549
Clinvar_Rec_2887	rs1565419638	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000707503	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs1565419638
Clinvar_Rec_2888	rs747272462	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574926;RCV000869664	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747272462
Clinvar_Rec_2889	rs764460528	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001022238;RCV000466561	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764460528
Clinvar_Rec_2890	rs764460528	Likely benign	Multiple endocrine neoplasia, type 4	RCV000525749	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs764460528
Clinvar_Rec_2891	rs781394293	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 4	RCV001022991;RCV000555465	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;610755;ORPHA276152	criteria provided, multiple submitters, no conflicts	tagSNP	rs781394293
Clinvar_Rec_2892	rs762810555	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001023277;RCV000231271	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762810555
Clinvar_Rec_2893	rs766659283	Uncertain significance	Multiple endocrine neoplasia, type 4	RCV000645522	MedGen;OMIM;Orphanet	C1970712;610755;ORPHA276152	criteria provided, single submitter	tagSNP	rs766659283
Clinvar_Rec_2894	rs146167605	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 4	RCV001023900;RCV000473629	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;610755;ORPHA276152	criteria provided, multiple submitters, no conflicts	tagSNP	rs146167605
Clinvar_Rec_2895	rs587777355	Pathogenic	Cortical dysplasia, complex, with other brain malformations 6	RCV000115018	MedGen;OMIM	C4014283;615771	no assertion criteria provided	tagSNP	rs587777355
Clinvar_Rec_2896	rs562047	association	Chronic obstructive pulmonary disease	RCV000856574	Human Phenotype Ontology;MedGen;OMIM	HP;C0024117;606963	no assertion criteria provided	tagSNP	rs562047
Clinvar_Rec_2897	rs150176783	Likely benign	Complement component 2 deficiency;Macular degeneration	RCV000319434;RCV000259678	MedGen;OMIM;MedGen;SNOMED CT	C3150275;217000;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	LD derived	rs117576077
Clinvar_Rec_2898	rs749158582	Uncertain significance	Atypical hemolytic uremic syndrome;Macular degeneration	RCV000351262;RCV000294043	MedGen;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs749158582
Clinvar_Rec_2899	rs11558689	Likely benign	Atypical hemolytic uremic syndrome;Macular degeneration	RCV000405609;RCV000287217	MedGen;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	LD derived	rs144812066
Clinvar_Rec_2900	rs11558689	Uncertain significance	Trichohepatoenteric syndrome	RCV000281443	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs142860816
Clinvar_Rec_2901	rs377386505	Uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency	RCV000191135	MedGen;OMIM;Orphanet	C1848029;606408;ORPHA230839	criteria provided, single submitter	tagSNP	rs377386505
Clinvar_Rec_2902	rs752812686	Uncertain significance	Bare lymphocyte syndrome type 1	RCV000689841	MedGen;OMIM;Orphanet	C1858266;604571;ORPHA34592	criteria provided, single submitter	tagSNP	rs752812686
Clinvar_Rec_2903	rs180927252	Uncertain significance	Bare lymphocyte syndrome type 1	RCV000706198	MedGen;OMIM;Orphanet	C1858266;604571;ORPHA34592	criteria provided, single submitter	LD derived	rs192572056
Clinvar_Rec_2904	rs1799908	Benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000284076;RCV000322780;RCV000379620;RCV000287449;RCV000376294;RCV000039828	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1799908
Clinvar_Rec_2905	rs2072915	Benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000321401;RCV000400780;RCV000375972;RCV000336079;RCV000280998;RCV000039840	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1799907
Clinvar_Rec_2906	rs2072915	Benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000321415;RCV000361205;RCV000393056;RCV000306396;RCV000266541;RCV000039839	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9277934
Clinvar_Rec_2907	rs61669264	Benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided	RCV000274399;RCV000314355;RCV000371291;RCV000313058;RCV000401417;RCV000836168	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138299820
Clinvar_Rec_2908	rs370287977	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000359620;RCV000403351;RCV000270455;RCV000305802;RCV000360575;RCV000834556;RCV000179097	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs151098305
Clinvar_Rec_2909	rs370287977	Likely benign	Connective tissue disease;not specified	RCV000680468;RCV000600942	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146093235
Clinvar_Rec_2910	rs370287977	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000363775;RCV000328983;RCV000269088;RCV000303942;RCV000383522;RCV000834554;RCV000178510	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146093235
Clinvar_Rec_2911	rs765712832	Uncertain significance	Bare lymphocyte syndrome type 1	RCV000642358	MedGen;OMIM;Orphanet	C1858266;604571;ORPHA34592	criteria provided, single submitter	tagSNP	rs765712832
Clinvar_Rec_2912	rs139155669	Uncertain significance	Bare lymphocyte syndrome type 1	RCV000642354	MedGen;OMIM;Orphanet	C1858266;604571;ORPHA34592	criteria provided, single submitter	tagSNP	rs139155669
Clinvar_Rec_2913	rs374819241	Uncertain significance	History of neurodevelopmental disorder	RCV000716985	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs374819241
Clinvar_Rec_2914	rs1561788984	Pathogenic	Mental retardation, autosomal dominant 5	RCV000680114	MedGen;OMIM	C2675473;612621	criteria provided, single submitter	tagSNP	rs1561788984
Clinvar_Rec_2915	rs138182352	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000317364;RCV000868246	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138182352
Clinvar_Rec_2916	rs58885336	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000313809	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	LD derived	rs7758412
Clinvar_Rec_2917	rs58885336	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000292889	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	LD derived	rs11968529
Clinvar_Rec_2918	rs59196748	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000313809	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	LD derived	rs7758412
Clinvar_Rec_2919	rs59196748	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000292889	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	LD derived	rs11968529
Clinvar_Rec_2920	rs149075037	Benign/Likely benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1;not provided;not specified	RCV000352563;RCV000513757;RCV000177312	MedGen;OMIM	C4721893;221770;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2234255
Clinvar_Rec_2921	rs835	Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy	RCV000271626;RCV000268625;RCV000382471;RCV000360948;RCV000325995;RCV000322523	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	tagSNP	rs835
Clinvar_Rec_2922	rs61755794	Pathogenic	Retinitis pigmentosa 7;not provided	RCV000014069;RCV000084983	MedGen;OMIM	C1842475;608133;MedGen	no assertion criteria provided	tagSNP	rs61755794
Clinvar_Rec_2923	rs531093050	Uncertain significance	Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided	RCV001049098;RCV000597689	MedGen;Orphanet	C1832200;ORPHA79189;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146416679
Clinvar_Rec_2924	rs61753220	Conflicting interpretations of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided;not specified	RCV000387310;RCV000709968;RCV000883282;RCV000344101	MedGen;OMIM;Orphanet;Orphanet	C4721541;214100;ORPHA912;MedGen;ORPHA79189;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61753220
Clinvar_Rec_2925	rs758866060	Uncertain significance	Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided	RCV001046992;RCV000729004	MedGen;Orphanet	C1832200;ORPHA79189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758866060
Clinvar_Rec_2926	rs368341252	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000348080	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs368341252
Clinvar_Rec_2927	rs61753212	Pathogenic	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4a (zellweger)	RCV000673874;RCV000673874	MedGen;OMIM;OMIM	C3553937;614863;MedGen;614862	criteria provided, single submitter	tagSNP	rs61753212
Clinvar_Rec_2928	rs190872536	Uncertain significance	Treacher Collins Syndrome, Recessive	RCV000287078	MedGen	CN239289	criteria provided, single submitter	tagSNP	rs190872536
Clinvar_Rec_2929	rs190872536	Uncertain significance	Xeroderma pigmentosum	RCV000322059	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs184188381
Clinvar_Rec_2930	rs35679149	Uncertain significance	Xeroderma pigmentosum	RCV000309554	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs200163087
Clinvar_Rec_2931	rs35316205	Benign/Likely benign	Treacher Collins Syndrome, Recessive;not provided	RCV000310816;RCV000992672	MedGen	CN239289;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113383614
Clinvar_Rec_2932	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000274029	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs1064260
Clinvar_Rec_2933	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000401669	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs1141338
Clinvar_Rec_2934	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000363986	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs28877272
Clinvar_Rec_2935	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000323247	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs9333565
Clinvar_Rec_2936	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000343501	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs112207298
Clinvar_Rec_2937	rs35316205	Likely benign	Xeroderma pigmentosum	RCV000401447	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs75658777
Clinvar_Rec_2938	rs886061480	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000282409	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886061480
Clinvar_Rec_2939	rs587783283	Pathogenic	Primary autosomal recessive microcephaly 5;not provided	RCV000145219;RCV000219877	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587783283
Clinvar_Rec_2940	rs763909256	Pathogenic	Primary autosomal recessive microcephaly 5	RCV000626188	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs763909256
Clinvar_Rec_2941	rs372416792	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 5;not provided	RCV000280307;RCV000145211;RCV000710649	MedGen;OMIM	CN239428;MedGen;608716;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372416792
Clinvar_Rec_2942	rs587783273	Uncertain significance	Primary autosomal recessive microcephaly 5	RCV000145200	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs587783273
Clinvar_Rec_2943	rs587783262	Conflicting interpretations of pathogenicity	Primary autosomal recessive microcephaly 5;not provided	RCV000145176;RCV000886469	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587783262
Clinvar_Rec_2944	rs755151801	Uncertain significance	Primary Microcephaly, Recessive;not provided	RCV000301005;RCV000991553	MedGen	CN239428;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs755151801
Clinvar_Rec_2945	rs587783257	Uncertain significance	Primary autosomal recessive microcephaly 5	RCV000145165	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs587783257
Clinvar_Rec_2946	rs587783253	Uncertain significance	Primary autosomal recessive microcephaly 5	RCV000145159	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs587783253
Clinvar_Rec_2947	rs587783246	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 5;not provided	RCV000269748;RCV000145136;RCV000895490	MedGen;OMIM	CN239428;MedGen;608716;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587783246
Clinvar_Rec_2948	rs886045774	Uncertain significance	Primary Microcephaly, Recessive	RCV000308436	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886045774
Clinvar_Rec_2949	rs776034810	Likely pathogenic	Primary autosomal recessive microcephaly	RCV000605641	MedGen;Orphanet	C3711387;ORPHA2512	criteria provided, single submitter	tagSNP	rs776034810
Clinvar_Rec_2950	rs200168598	Uncertain significance	Primary autosomal recessive microcephaly 5;not provided;not specified	RCV000145133;RCV000724761;RCV000217049	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140119882
Clinvar_Rec_2951	rs115846779	Benign/Likely benign	Primary autosomal recessive microcephaly 5;not provided;not specified	RCV000020828;RCV000514910;RCV000145240	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7528827
Clinvar_Rec_2952	rs3729998	Likely benign	Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000381275;RCV000403791;RCV000346573;RCV000289254	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	CN239310;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	tagSNP	rs3729998
Clinvar_Rec_2953	rs730880233	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000157542	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	no assertion criteria provided	tagSNP	rs730880233
Clinvar_Rec_2954	rs1553282545	Uncertain significance	Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy 3;Left ventricular noncompaction 6	RCV000646068;RCV000646068;RCV000646068	MedGen;OMIM;OMIM;OMIM	C1861864;115195;MedGen;612422;MedGen;601494	criteria provided, single submitter	tagSNP	rs1553282545
Clinvar_Rec_2955	rs397516455	Likely pathogenic	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy 3;Hypertrophic cardiomyopathy;Left ventricular noncompaction 6;not provided	RCV000618563;RCV000556483;RCV000556483;RCV000036571;RCV000556483;RCV000505760	MedGen;OMIM;OMIM;MedGen;Orphanet;OMIM	CN230736;MedGen;115195;MedGen;612422;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;601494;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516455
Clinvar_Rec_2956	rs727504254	Uncertain significance	Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy 3;Left ventricular noncompaction 6;not specified	RCV000693695;RCV000693695;RCV000693695;RCV000154227	MedGen;OMIM;OMIM;OMIM	C1861864;115195;MedGen;612422;MedGen;601494;MedGen	criteria provided, single submitter	tagSNP	rs727504254
Clinvar_Rec_2957	rs886045829	Uncertain significance	Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000315562;RCV000405362;RCV000369691;RCV000336460	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	CN239310;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	tagSNP	rs886045829
Clinvar_Rec_2958	rs886045829	Uncertain significance	Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000271975;RCV000366653;RCV000311982;RCV000275635	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	CN239310;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	tagSNP	rs886045829
Clinvar_Rec_2959	rs184938367	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000379711	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	LD derived	rs201628992
Clinvar_Rec_2960	rs377628453	Uncertain significance	Congenital anomalies of kidney and urinary tract 1, susceptibility to;not provided	RCV000416578;RCV000996114	Gene;MedGen;OMIM	100034704;C1835826;610805;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs367692056
Clinvar_Rec_2961	rs886045859	Uncertain significance	Junctional epidermolysis bullosa gravis of Herlitz	RCV000670329	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, multiple submitters, no conflicts	tagSNP	rs886045859
Clinvar_Rec_2962	rs121434231	Pathogenic	Popliteal pterygium syndrome;Van der Woude syndrome	RCV000023627;RCV000003592	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C0265259;119500;ORPHA294963;66783006;MedGen;119300;79261008	no assertion criteria provided	tagSNP	rs121434231
Clinvar_Rec_2963	rs182336183	Conflicting interpretations of pathogenicity	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive;not provided	RCV000369235;RCV000274619;RCV001044545	MedGen	CN239263;MedGen	criteria provided, conflicting interpretations	LD derived	rs111504036
Clinvar_Rec_2964	rs145542247	Uncertain significance	Mental retardation, autosomal recessive 53	RCV000653429	MedGen;OMIM;Orphanet	C4310794;616917;ORPHA488635	criteria provided, single submitter	tagSNP	rs145542247
Clinvar_Rec_2965	rs758180926	Uncertain significance	Mental retardation, autosomal recessive 53	RCV000653413	MedGen;OMIM;Orphanet	C4310794;616917;ORPHA488635	criteria provided, single submitter	tagSNP	rs758180926
Clinvar_Rec_2966	rs1553917091	Uncertain significance	Hurler syndrome	RCV000672307	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448	criteria provided, single submitter	tagSNP	rs1553917091
Clinvar_Rec_2967	rs1430681871	Likely pathogenic	Hurler syndrome	RCV000670254	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448	criteria provided, single submitter	tagSNP	rs1430681871
Clinvar_Rec_2968	rs779762183	Pathogenic/Likely pathogenic	Hurler syndrome;Mucopolysaccharidosis type 1	RCV000665114;RCV000794373	MedGen;OMIM;Orphanet;Orphanet	C0086795;607014;ORPHA93448;MedGen;ORPHA579	criteria provided, multiple submitters, no conflicts	tagSNP	rs779762183
Clinvar_Rec_2969	rs1553917209	Pathogenic/Likely pathogenic	Hurler syndrome;Mucopolysaccharidosis type 1	RCV001007594;RCV000547146	MedGen;OMIM;Orphanet;Orphanet	C0086795;607014;ORPHA93448;MedGen;ORPHA579	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553917209
Clinvar_Rec_2970	rs761325047	Uncertain significance	Craniosynostosis, nonspecific	RCV000415512	MedGen	CN239568	criteria provided, single submitter	tagSNP	rs761325047
Clinvar_Rec_2971	rs761325047	not provided	Achondroplasia;Camptodactyly-tall stature-scoliosis-hearing loss syndrome;Crouzon syndrome with acanthosis nigricans;Hypochondroplasia;Levy-Hollister syndrome	RCV000709871;RCV000709871;RCV000709871;RCV000709871;RCV000709871	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0001080;100800;ORPHA15;86268005;MedGen;610474;ORPHA85164;MedGen;612247;ORPHA93262;MedGen;146000;ORPHA429;205468002;MedGen;149730;ORPHA2363;23817003	no assertion provided	tagSNP	rs761325047
Clinvar_Rec_2972	rs774517056	Likely pathogenic	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	RCV000770821	MedGen;OMIM;Orphanet	C1864852;610474;ORPHA85164	no assertion criteria provided	tagSNP	rs774517056
Clinvar_Rec_2973	rs886059314	Uncertain significance	4p partial monosomy syndrome	RCV000337753	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs886059314
Clinvar_Rec_2974	rs112014939	Benign/Likely benign	4p partial monosomy syndrome;not provided	RCV000309220;RCV000969184	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112014939
Clinvar_Rec_2975	rs112014939	Benign/Likely benign	4p partial monosomy syndrome;not provided	RCV000331980;RCV000969183	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112939388
Clinvar_Rec_2976	rs138946638	Benign/Likely benign	4p partial monosomy syndrome;not provided	RCV000341332;RCV000898024	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138946638
Clinvar_Rec_2977	rs150572069	Conflicting interpretations of pathogenicity	Fibrous dysplasia of jaw	RCV000346025	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, conflicting interpretations	tagSNP	rs150572069
Clinvar_Rec_2978	rs142486836	Likely benign	Fibrous dysplasia of jaw	RCV000275105	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs142486836
Clinvar_Rec_2979	rs56100883	Likely benign	Fibrous dysplasia of jaw	RCV000370901	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs56100883
Clinvar_Rec_2980	rs56100883	Likely benign	Fibrous dysplasia of jaw	RCV000283202	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	LD derived	rs73794814
Clinvar_Rec_2981	rs578007911	Likely benign	Fibrous dysplasia of jaw	RCV000298519	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	LD derived	rs529543434
Clinvar_Rec_2982	rs797045040	Pathogenic	Myasthenia, limb-girdle, familial	RCV000191079	MedGen;OMIM	C1850792;254300	criteria provided, single submitter	tagSNP	rs797045040
Clinvar_Rec_2983	rs886059491	Uncertain significance	Ellis-van Creveld syndrome	RCV000336863	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs886059491
Clinvar_Rec_2984	rs369076839	Uncertain significance	Ellis-van Creveld syndrome	RCV000408174	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs369076839
Clinvar_Rec_2985	rs188270163	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000305642;RCV000259906	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs188270163
Clinvar_Rec_2986	rs531598994	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000265918;RCV000360424	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	LD derived	rs576620294
Clinvar_Rec_2987	rs531598994	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000384971;RCV000320996	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	LD derived	rs545639856
Clinvar_Rec_2988	rs139771274	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000330370;RCV000275174	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs139771274
Clinvar_Rec_2989	rs191415414	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000375582;RCV000281172	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs191415414
Clinvar_Rec_2990	rs576302768	Pathogenic	Diabetes mellitus AND insipidus with optic atrophy AND deafness	RCV000004769	MedGen;OMIM;Orphanet;SNOMED CT	C4551693;222300;ORPHA3463;70694009	no assertion criteria provided	LD derived	rs104893879
Clinvar_Rec_2991	rs151277039	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not provided;not specified	RCV000364218;RCV000276573;RCV000872702;RCV000197385	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs151277039
Clinvar_Rec_2992	rs886059528	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000320553;RCV000265550	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886059528
Clinvar_Rec_2993	rs1801206	Benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not specified	RCV000344908;RCV000380942;RCV000038635	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801206
Clinvar_Rec_2994	rs144951440	Conflicting interpretations of pathogenicity	Autosomal dominant nonsyndromic deafness 6;Diabetes mellitus AND insipidus with optic atrophy AND deafness;Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not provided;not specified	RCV000490282;RCV000987407;RCV000291214;RCV000345927;RCV000953870;RCV000825691	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C1833021;600965;MedGen;222300;ORPHA3463;70694009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144951440
Clinvar_Rec_2995	rs144840779	Conflicting interpretations of pathogenicity	Monogenic diabetes;not provided;not specified	RCV000664092;RCV000725856;RCV000354766	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144840779
Clinvar_Rec_2996	rs2230721	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not specified	RCV000315287;RCV000404074;RCV000038656	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2230721
Clinvar_Rec_2997	rs60985011	Likely benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000320318;RCV000262863	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs60985011
Clinvar_Rec_2998	rs80055761	Likely benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000377244;RCV000285131	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs80055761
Clinvar_Rec_2999	rs886059533	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000288853;RCV000346119	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886059533
Clinvar_Rec_3000	rs9457	Benign	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000341007;RCV000302430	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs9457
Clinvar_Rec_3001	rs886059538	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000305800;RCV000403148	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886059538
Clinvar_Rec_3002	rs71537674	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders	RCV000338798;RCV000281452	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs71537674
Clinvar_Rec_3003	rs786200944	Pathogenic	Cone-rod dystrophy 18	RCV000054527	MedGen;OMIM	C3809299;615374	no assertion criteria provided	tagSNP	rs786200944
Clinvar_Rec_3004	rs41265150	Likely benign	Nager syndrome;not provided	RCV000383906;RCV000906381	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41265150
Clinvar_Rec_3005	rs193248195	Benign	Nager syndrome	RCV000299261	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007	criteria provided, single submitter	LD derived	rs60631776
Clinvar_Rec_3006	rs4647036	Benign/Likely benign	Cockayne syndrome;Leigh syndrome;Mitochondrial complex I deficiency	RCV000373301;RCV000355199;RCV000262719	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0009207;ORPHA191;21086008;MedGen;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs4647036
Clinvar_Rec_3007	rs1554076309	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	RCV000590851	MedGen;OMIM	C4748768;618233	criteria provided, single submitter	tagSNP	rs1554076309
Clinvar_Rec_3008	rs77149936	Benign	Cockayne syndrome type A	RCV000494733	MedGen;OMIM;Orphanet	C0751039;216400;ORPHA90321	no assertion criteria provided	LD derived	rs4647068
Clinvar_Rec_3009	rs77149936	Likely benign	Cockayne syndrome	RCV000348090	MedGen;Orphanet;SNOMED CT	C0009207;ORPHA191;21086008	criteria provided, single submitter	LD derived	rs4647038
Clinvar_Rec_3010	rs537327206	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000351951;RCV000399037	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs537327206
Clinvar_Rec_3011	rs755043940	Uncertain significance	Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome	RCV000545810;RCV000545810;RCV000545810	MedGen;OMIM;OMIM;OMIM;Orphanet	C3554689;615214;MedGen;616005;MedGen;269880;ORPHA3163	criteria provided, single submitter	tagSNP	rs755043940
Clinvar_Rec_3012	rs398122384	Pathogenic	SHORT syndrome	RCV000054535	MedGen;OMIM;Orphanet	C0878684;269880;ORPHA3163	no assertion criteria provided	tagSNP	rs398122384
Clinvar_Rec_3013	rs886060733	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000374495	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886060733
Clinvar_Rec_3014	rs1554054880	Likely pathogenic	Periventricular nodular heterotopia	RCV000662228	MeSH;MedGen;Orphanet	D054091;C1868720;ORPHA98892	no assertion criteria provided	tagSNP	rs1554054880
Clinvar_Rec_3015	rs1554042187	Pathogenic	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39;Mitochondrial diseases	RCV000767877;RCV000515475	MedGen;OMIM;Orphanet	CN258295;618397;MedGen;ORPHA68380	no assertion criteria provided	tagSNP	rs1554042187
Clinvar_Rec_3016	rs199790354	Benign/Likely benign	Sandhoff disease;not provided;not specified	RCV000268566;RCV000514555;RCV000252021	MedGen;OMIM;Orphanet;SNOMED CT	C0036161;268800;ORPHA796;23849003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77499935
Clinvar_Rec_3017	rs569581364	Likely benign	Brachydactyly	RCV000313256	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0221357;43476002	criteria provided, single submitter	tagSNP	rs569581364
Clinvar_Rec_3018	rs886058966	Uncertain significance	Beta-D-mannosidosis	RCV000303177	MedGen;OMIM;Orphanet;SNOMED CT	C4048196;248510;ORPHA118;238047006	criteria provided, single submitter	tagSNP	rs886058966
Clinvar_Rec_3019	rs75826658	Benign/Likely benign	Beta-D-mannosidosis;not provided	RCV000333263;RCV000675780	MedGen;OMIM;Orphanet;SNOMED CT	C4048196;248510;ORPHA118;238047006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs75826658
Clinvar_Rec_3020	rs367692761	Uncertain significance	Beta-D-mannosidosis	RCV000274747	MedGen;OMIM;Orphanet;SNOMED CT	C4048196;248510;ORPHA118;238047006	criteria provided, multiple submitters, no conflicts	tagSNP	rs367692761
Clinvar_Rec_3021	rs968566	Benign	Zonular Pulverulent Cataract;not provided;not specified	RCV000317535;RCV000836676;RCV000253661	MedGen	CN239280;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs968566
Clinvar_Rec_3022	rs886050021	Uncertain significance	Zonular Pulverulent Cataract	RCV000372141	MedGen	CN239280	criteria provided, single submitter	tagSNP	rs886050021
Clinvar_Rec_3023	rs1555339477	Uncertain significance	Zonular pulverulent cataract 3	RCV000644861	MedGen;OMIM	C1866078;601885	criteria provided, single submitter	tagSNP	rs1555339477
Clinvar_Rec_3024	rs9237	Benign	Hystrix-like ichthyosis with deafness;Keratitis ichthyosis and deafness syndrome;Mutilating keratoderma;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive	RCV000328529;RCV000320457;RCV000265290;RCV000379737;RCV000383076	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1865234;602540;MedGen;239059004;MedGen;124500;ORPHA494;24559001;MedGen	criteria provided, single submitter	tagSNP	rs9237
Clinvar_Rec_3025	rs766975999	Uncertain significance	Deafness, autosomal recessive 1A	RCV000666244	MedGen;OMIM	C2673759;220290	criteria provided, single submitter	tagSNP	rs766975999
Clinvar_Rec_3026	rs375599392	Uncertain significance	Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Palmoplantar keratoderma-deafness syndrome;not specified	RCV000765114;RCV000765114;RCV000505528;RCV000765114;RCV000765114;RCV000765114;RCV000765114;RCV000765114;RCV000765114;RCV000037869	MedGen;OMIM;Orphanet;OMIM;OMIM;OMIM;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C1844678;304400;ORPHA383;MedGen;601544;MedGen;220290;MedGen;220290;MedGen;602540;MedGen;148210;MedGen;149200;ORPHA2698;1271009;MedGen;124500;ORPHA494;24559001;MedGen;148350;ORPHA2202;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375599392
Clinvar_Rec_3027	rs752812448	Uncertain significance	Nonsyndromic hearing loss and deafness	RCV000710338	MedGen;Orphanet	CN043648;ORPHA87884	reviewed by expert panel	tagSNP	rs752812448
Clinvar_Rec_3028	rs770116143	Pathogenic/Likely pathogenic	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Rare genetic deafness	RCV000410369;RCV000409267;RCV000602023	MedGen;OMIM;OMIM;Orphanet	C2675750;601544;MedGen;220290;MedGen;ORPHA96210	criteria provided, multiple submitters, no conflicts	tagSNP	rs770116143
Clinvar_Rec_3029	rs28931595	Uncertain significance	Deafness, autosomal recessive 1A	RCV000665713	MedGen;OMIM	C2673759;220290	criteria provided, single submitter	tagSNP	rs28931595
Clinvar_Rec_3030	rs28931595	Pathogenic	Deafness, autosomal dominant 3a	RCV000018553	MedGen;OMIM	C2675750;601544	no assertion criteria provided	tagSNP	rs28931595
Clinvar_Rec_3031	rs111033188	Benign/Likely benign	Deafness, autosomal dominant 3a;Hystrix-like ichthyosis with deafness;Keratitis ichthyosis and deafness syndrome;Mutilating keratoderma;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000785600;RCV000331479;RCV000389408;RCV000295290;RCV000385674;RCV000281969;RCV000590041;RCV000037845	MedGen;OMIM;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2675750;601544;MedGen;602540;MedGen;239059004;MedGen;124500;ORPHA494;24559001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111033188
Clinvar_Rec_3032	rs111033295	Pathogenic/Likely pathogenic	Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Hearing impairment;Hearing loss;Rare genetic deafness;not provided;not specified	RCV000412394;RCV000037844;RCV000146021;RCV000678882;RCV000211721;RCV000757331;RCV000999926	MedGen;OMIM;OMIM;MedGen;Orphanet	C2675750;601544;MedGen;220290;Human Phenotype Ontology;C1384666;MedGen;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111033295
Clinvar_Rec_3033	rs111033204	Pathogenic	Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1b;Rare genetic deafness;not provided;not specified	RCV000037835;RCV001004390;RCV001004390;RCV000211773;RCV000255698;RCV001001373	MedGen;OMIM;OMIM;OMIM;Orphanet	C2673759;220290;MedGen;220290;MedGen;612645;MedGen;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111033204
Clinvar_Rec_3034	rs775828835	Likely pathogenic	Deafness, autosomal recessive 1A;not provided	RCV000586317;RCV001009145	MedGen;OMIM	C2673759;220290;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775828835
Clinvar_Rec_3035	rs143343083	Pathogenic/Likely pathogenic	Deafness, autosomal recessive 1A;Hearing impairment;Hearing loss;Rare genetic deafness;not provided;not specified	RCV000169347;RCV000146015;RCV000678877;RCV000215444;RCV000798119;RCV000506227	MedGen;OMIM;MedGen;Orphanet	C2673759;220290;Human Phenotype Ontology;C1384666;MedGen;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143343083
Clinvar_Rec_3036	rs1555341987	Uncertain significance	Deafness, autosomal recessive 1A	RCV000670560	MedGen;OMIM	C2673759;220290	criteria provided, single submitter	tagSNP	rs1555341987
Clinvar_Rec_3037	rs780183885	Uncertain significance	Symphalangism-brachydactyly syndrome	RCV000329135	MedGen;OMIM;SNOMED CT	C0342282;186500;129580008	criteria provided, single submitter	tagSNP	rs780183885
Clinvar_Rec_3038	rs149762079	Likely benign	Symphalangism-brachydactyly syndrome	RCV000381529	MedGen;OMIM;SNOMED CT	C0342282;186500;129580008	criteria provided, single submitter	tagSNP	rs149762079
Clinvar_Rec_3039	rs35799469	Conflicting interpretations of pathogenicity	Limb-Girdle Muscular Dystrophy, Recessive;Severe autosomal recessive muscular dystrophy of childhood - North African type;not specified	RCV000284464;RCV000339387;RCV000241662	MedGen;OMIM;Orphanet;SNOMED CT	CN239352;MedGen;253700;ORPHA353;240056002;MedGen	criteria provided, conflicting interpretations	LD derived	rs139369964
Clinvar_Rec_3040	rs1060503431	Pathogenic	Spastic paraplegia	RCV000470443	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs1060503431
Clinvar_Rec_3041	rs137905181	Conflicting interpretations of pathogenicity	Spastic paraplegia;not provided	RCV001034278;RCV000712994	Human Phenotype Ontology;MedGen	HP;C0037772;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137905181
Clinvar_Rec_3042	rs544249449	Uncertain significance	Spastic paraplegia;not specified	RCV000547323;RCV000518100	Human Phenotype Ontology;MedGen	HP;C0037772;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs544249449
Clinvar_Rec_3043	rs1259615333	Pathogenic	Spastic paraplegia	RCV000691411	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs1259615333
Clinvar_Rec_3044	rs144251950	Uncertain significance	Primary autosomal recessive microcephaly 6;Primary autosomal recessive microcephaly 6;Seckel syndrome 4;not provided	RCV000145580;RCV000765126;RCV000765126;RCV000513419	MedGen;OMIM;OMIM;OMIM	C1842109;608393;MedGen;608393;MedGen;613676;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144251950
Clinvar_Rec_3045	rs17402892	Benign/Likely benign	Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 6;Seckel syndrome;not provided;not specified	RCV000351785;RCV000020851;RCV000294504;RCV000711281;RCV000145569	MedGen;OMIM;Orphanet;SNOMED CT	CN239428;MedGen;608393;MedGen;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17402892
Clinvar_Rec_3046	rs17402892	Benign/Likely benign	Primary Microcephaly, Recessive;Seckel syndrome;not provided;not specified	RCV000372104;RCV000317427;RCV000711280;RCV000145568	MedGen;Orphanet;SNOMED CT	CN239428;MedGen;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9511510
Clinvar_Rec_3047	rs797045450	Pathogenic	Seckel syndrome 4	RCV000192998	MedGen;OMIM	C3888212;613676	criteria provided, single submitter	tagSNP	rs797045450
Clinvar_Rec_3048	rs539354309	Uncertain significance	Primary autosomal recessive microcephaly 6	RCV000020853	MedGen;OMIM	C1842109;608393	criteria provided, single submitter	LD derived	rs41306027
Clinvar_Rec_3049	rs886050109	Uncertain significance	Treacher Collins Syndrome, Dominant	RCV000300202	MedGen	CN239287	criteria provided, single submitter	tagSNP	rs886050109
Clinvar_Rec_3050	rs191366528	Likely benign	C syndrome	RCV000287596	MedGen;OMIM;Orphanet	C0796095;211750;ORPHA1308	criteria provided, single submitter	LD derived	rs139540088
Clinvar_Rec_3051	rs483353065	Pathogenic	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	RCV000149432	MedGen;OMIM;Orphanet	C0796121;259050;ORPHA3042	no assertion criteria provided	tagSNP	rs483353065
Clinvar_Rec_3052	rs483353064	Pathogenic	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	RCV000133615	MedGen;OMIM;Orphanet	C0796121;259050;ORPHA3042	no assertion criteria provided	tagSNP	rs483353064
Clinvar_Rec_3053	rs746965144	Uncertain significance	Adams-Oliver syndrome	RCV000336845	MedGen;Orphanet;SNOMED CT	C0265268;ORPHA974;34748004	criteria provided, single submitter	tagSNP	rs746965144
Clinvar_Rec_3054	rs201997376	Likely benign	Adams-Oliver syndrome	RCV000395875	MedGen;Orphanet;SNOMED CT	C0265268;ORPHA974;34748004	criteria provided, single submitter	tagSNP	rs201997376
Clinvar_Rec_3055	rs184040818	Benign/Likely benign	Adams-Oliver syndrome;not provided	RCV000395942;RCV000888937	MedGen;Orphanet;SNOMED CT	C0265268;ORPHA974;34748004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs184040818
Clinvar_Rec_3056	rs28910597	Benign/Likely benign	Congenital hypothyroidism;not provided	RCV000298234;RCV000955904	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28910597
Clinvar_Rec_3057	rs56237316	Benign	Inflammatory skin and bowel disease, neonatal 1	RCV000551089	MedGen;OMIM	C3280501;614328	criteria provided, single submitter	tagSNP	rs56237316
Clinvar_Rec_3058	rs759266535	Uncertain significance	Maturity onset diabetes mellitus in young	RCV000287486	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs759266535
Clinvar_Rec_3059	rs375265808	Uncertain significance	Maturity onset diabetes mellitus in young	RCV000345253	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs375265808
Clinvar_Rec_3060	rs15380	Benign	Maturity onset diabetes mellitus in young	RCV000280015	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	LD derived	rs4669522
Clinvar_Rec_3061	rs886054799	Uncertain significance	Acute Recurrent Myoglobinuria	RCV000401385	MedGen	CN239190	criteria provided, single submitter	tagSNP	rs886054799
Clinvar_Rec_3062	rs1553994814	Pathogenic	Intellectual disability, autosomal dominant 50	RCV000677627	MedGen;OMIM	C4540470;617787	no assertion criteria provided	tagSNP	rs1553994814
Clinvar_Rec_3063	rs587777018	Uncertain significance	Primary pulmonary hypertension;Variant of unknown significance	RCV000488453;RCV000054384	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007;na	no assertion criteria provided	tagSNP	rs587777018
Clinvar_Rec_3064	rs1553957901	Likely pathogenic	Vitamin B12-responsive methylmalonic acidemia type cblA	RCV000672980	MedGen;OMIM;Orphanet	C1855109;251100;ORPHA79310	criteria provided, single submitter	tagSNP	rs1553957901
Clinvar_Rec_3065	rs11952807	Benign	Primary open angle glaucoma	RCV000331976	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0339573;137760;77075001	criteria provided, single submitter	tagSNP	rs11952807
Clinvar_Rec_3066	rs1561445008	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776690	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561445008
Clinvar_Rec_3067	rs11241184	other	Familial colorectal cancer	RCV000073832	MedGen	CN029768	no assertion criteria provided	tagSNP	rs11241184
Clinvar_Rec_3068	rs1554071578	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000581424;RCV000975503	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554071578
Clinvar_Rec_3069	rs1157254183	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775321	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1157254183
Clinvar_Rec_3070	rs758646398	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001026062;RCV000935551;RCV000602679	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758646398
Clinvar_Rec_3071	rs390092	other	Familial colorectal cancer	RCV000074070	MedGen	CN029768	no assertion criteria provided	tagSNP	rs390092
Clinvar_Rec_3072	rs1168959523	Likely benign	Familial adenomatous polyposis 1	RCV000646678	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1168959523
Clinvar_Rec_3073	rs760345157	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000563504;RCV000205612;RCV000425280	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760345157
Clinvar_Rec_3074	rs747442953	Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000549422;RCV001013809	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs747442953
Clinvar_Rec_3075	rs1561574172	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776806	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561574172
Clinvar_Rec_3076	rs786203018	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166140	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203018
Clinvar_Rec_3077	rs1554083862	Pathogenic	Familial adenomatous polyposis 1	RCV000538136	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554083862
Clinvar_Rec_3078	rs756859993	Uncertain significance	Duodenal adenocarcinoma;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Rectal Adenocarcinoma;not provided;not specified	RCV000677741;RCV000474515;RCV000214596;RCV000677742;RCV000657144;RCV000483692	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0278804;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756859993
Clinvar_Rec_3079	rs1554083900	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580200	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554083900
Clinvar_Rec_3080	rs878853422	Pathogenic	Familial adenomatous polyposis;Familial adenomatous polyposis 1;not provided	RCV000500203;RCV000230843;RCV000759417	MedGen;OMIM	CN240755;MedGen;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853422
Clinvar_Rec_3081	rs769363082	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000561494;RCV000234764;RCV000247289	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769363082
Clinvar_Rec_3082	rs749130507	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000552077;RCV000565689;RCV000985289	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749130507
Clinvar_Rec_3083	rs1060503282	Pathogenic	Familial adenomatous polyposis 1	RCV000476645	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503282
Clinvar_Rec_3084	rs1060503282	Uncertain significance	Familial adenomatous polyposis 1	RCV000646291	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503282
Clinvar_Rec_3085	rs1561574872	Uncertain significance	Familial adenomatous polyposis 1	RCV000700188	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561574872
Clinvar_Rec_3086	rs1561574872	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000708637	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561574872
Clinvar_Rec_3087	rs878853425	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000702522;RCV000777336;RCV000985290	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853425
Clinvar_Rec_3088	rs878853425	Uncertain significance	Familial adenomatous polyposis 1	RCV000228977	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs878853425
Clinvar_Rec_3089	rs145751759	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000462393;RCV000163199;RCV000590422;RCV000439758	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145751759
Clinvar_Rec_3090	rs764099150	Uncertain significance	Familial adenomatous polyposis 1	RCV000465815	MedGen;OMIM	C2713442;175100	criteria provided, multiple submitters, no conflicts	tagSNP	rs764099150
Clinvar_Rec_3091	rs764099150	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646295;RCV000216142	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs764099150
Clinvar_Rec_3092	rs148987776	Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000547063;RCV000568933	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs148987776
Clinvar_Rec_3093	rs148987776	Benign/Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000122761;RCV000163307;RCV000758722;RCV000152789	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148987776
Clinvar_Rec_3094	rs1561576132	Uncertain significance	Familial adenomatous polyposis 1	RCV000696823	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561576132
Clinvar_Rec_3095	rs145792879	Benign/Likely benign	APC-Associated Polyposis Disorders;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000378186;RCV000197095;RCV000123662;RCV000858135;RCV000211902	MedGen;OMIM;Orphanet;SNOMED CT	CN239210;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145792879
Clinvar_Rec_3096	rs145792879	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216117	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs145792879
Clinvar_Rec_3097	rs1554084074	Uncertain significance	Familial adenomatous polyposis 1	RCV000646411	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554084074
Clinvar_Rec_3098	rs1561576666	Likely pathogenic	Familial adenomatous polyposis 1	RCV000708960	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561576666
Clinvar_Rec_3099	rs1442780982	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564909	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1442780982
Clinvar_Rec_3100	rs1442780982	Uncertain significance	Familial adenomatous polyposis 1	RCV000686013	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1442780982
Clinvar_Rec_3101	rs1554084131	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580508	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554084131
Clinvar_Rec_3102	rs768177978	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000214365;RCV000549017;RCV000600698	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768177978
Clinvar_Rec_3103	rs761178697	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000561805;RCV000780854	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761178697
Clinvar_Rec_3104	rs138498551	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000205053;RCV000572390;RCV000159539;RCV000779726	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138498551
Clinvar_Rec_3105	rs879254091	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV001015839;RCV000235481	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254091
Clinvar_Rec_3106	rs1554084260	Uncertain significance	Familial adenomatous polyposis 1;not provided	RCV000646480;RCV000679051	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554084260
Clinvar_Rec_3107	rs36046448	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000570142;RCV000197250	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs36046448
Clinvar_Rec_3108	rs1060503294	Uncertain significance	Familial adenomatous polyposis 1	RCV000468311	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503294
Clinvar_Rec_3109	rs1060503294	Uncertain significance	Familial adenomatous polyposis 1	RCV000707430	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503294
Clinvar_Rec_3110	rs1060503294	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773250	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060503294
Clinvar_Rec_3111	rs1554084311	Uncertain significance	Familial adenomatous polyposis 1	RCV000547702	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554084311
Clinvar_Rec_3112	rs587782610	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000131984	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782610
Clinvar_Rec_3113	rs786204146	Uncertain significance	Familial adenomatous polyposis 1	RCV000168132	MedGen;OMIM	C2713442;175100	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204146
Clinvar_Rec_3114	rs750259615	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000219215;RCV000198677	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs750259615
Clinvar_Rec_3115	rs786204162	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000168163;RCV000215714	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204162
Clinvar_Rec_3116	rs1554084529	Pathogenic	Familial adenomatous polyposis 1	RCV000537934	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554084529
Clinvar_Rec_3117	rs142835322	Benign/Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000409166;RCV000163050;RCV000859696;RCV000429824	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142835322
Clinvar_Rec_3118	rs772573597	Uncertain significance	Familial adenomatous polyposis 1	RCV000554620	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs772573597
Clinvar_Rec_3119	rs587779784	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000211505;RCV000581785;RCV000115075;RCV000780838	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779784
Clinvar_Rec_3120	rs1554084627	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV001044736;RCV000561970	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554084627
Clinvar_Rec_3121	rs1057522595	Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	RCV000533683;RCV000565250;RCV000430487	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522595
Clinvar_Rec_3122	rs1114167617	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV001069888;RCV000491338	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1114167617
Clinvar_Rec_3123	rs1114167617	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000535536;RCV001018532	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1114167617
Clinvar_Rec_3124	rs876660265	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000548012;RCV000213818	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660265
Clinvar_Rec_3125	rs1060503303	Uncertain significance	Familial adenomatous polyposis 1	RCV000465753	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503303
Clinvar_Rec_3126	rs863225338	Pathogenic	Familial adenomatous polyposis 1;not provided	RCV001051743;RCV000202061	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, single submitter	tagSNP	rs863225338
Clinvar_Rec_3127	rs786203919	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	RCV000812862;RCV000167432;RCV000780844	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203919
Clinvar_Rec_3128	rs757981620	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000584372;RCV000944450	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757981620
Clinvar_Rec_3129	rs1554084748	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581109	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554084748
Clinvar_Rec_3130	rs1060503258	Uncertain significance	Familial adenomatous polyposis 1	RCV000474742	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503258
Clinvar_Rec_3131	rs1195583636	Uncertain significance	Rectal Adenocarcinoma	RCV000677771	MedGen	C0149978	no assertion criteria provided	tagSNP	rs1195583636
Clinvar_Rec_3132	rs1057517624	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000412331;RCV001019012	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057517624
Clinvar_Rec_3133	rs587779352	Pathogenic	Craniopharyngioma;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000722012;RCV000502016;RCV000144562;RCV000162768;RCV000077987	Human Phenotype Ontology;MeSH;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;D003397;C0010276;ORPHA54595;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779352
Clinvar_Rec_3134	rs1114167551	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491925	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167551
Clinvar_Rec_3135	rs1554084818	Pathogenic	Familial adenomatous polyposis 1	RCV000531342	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554084818
Clinvar_Rec_3136	rs137854571	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;Neoplasm of stomach	RCV000819088;RCV001019125;RCV000000840	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D013274;C0038356;613659;126824007	criteria provided, multiple submitters, no conflicts	tagSNP	rs137854571
Clinvar_Rec_3137	rs1332655563	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000696259;RCV000569426	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1332655563
Clinvar_Rec_3138	rs1561583350	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000694618;RCV001019453	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1561583350
Clinvar_Rec_3139	rs114774495	Benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000129142;RCV000586811;RCV000211908	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114774495
Clinvar_Rec_3140	rs730881245	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000691255;RCV000159548;RCV000211909	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881245
Clinvar_Rec_3141	rs1060503326	Pathogenic	Familial adenomatous polyposis 1	RCV000462186	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503326
Clinvar_Rec_3142	rs1554085128	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV001060172;RCV000774952;RCV000581241	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554085128
Clinvar_Rec_3143	rs1060503260	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000461411;RCV000575397	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503260
Clinvar_Rec_3144	rs1057518472	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000465493;RCV000568797;RCV000479172	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057518472
Clinvar_Rec_3145	rs141444802	Likely benign	Hereditary cancer-predisposing syndrome	RCV000560972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs141444802
Clinvar_Rec_3146	rs1554085177	Likely benign	Hereditary cancer-predisposing syndrome	RCV000566658	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554085177
Clinvar_Rec_3147	rs1561586313	Uncertain significance	Familial adenomatous polyposis 1	RCV000685574	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561586313
Clinvar_Rec_3148	rs752590375	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	RCV000536269;RCV000581133;RCV000507060	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752590375
Clinvar_Rec_3149	rs145181563	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000122773;RCV000129238	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs145181563
Clinvar_Rec_3150	rs756346998	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000458016;RCV000775717	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756346998
Clinvar_Rec_3151	rs756346998	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000548626;RCV000582171	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756346998
Clinvar_Rec_3152	rs751533193	Uncertain significance	Familial adenomatous polyposis 1	RCV000526420	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs751533193
Clinvar_Rec_3153	rs1561587386	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773841	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561587386
Clinvar_Rec_3154	rs763668164	Uncertain significance	Familial adenomatous polyposis 1	RCV000646397	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs763668164
Clinvar_Rec_3155	rs1561587604	Pathogenic	Familial adenomatous polyposis 1	RCV000689576	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561587604
Clinvar_Rec_3156	rs1064794636	Uncertain significance	Familial adenomatous polyposis 1;not provided	RCV000646262;RCV000478845	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794636
Clinvar_Rec_3157	rs587781637	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000412401;RCV000129750;RCV000211911	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781637
Clinvar_Rec_3158	rs1060503299	Pathogenic	Familial adenomatous polyposis 1	RCV000464255	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503299
Clinvar_Rec_3159	rs1060503299	Pathogenic	Familial adenomatous polyposis 1;not provided	RCV000646441;RCV000581700	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, single submitter	tagSNP	rs1060503299
Clinvar_Rec_3160	rs1057519843	Likely pathogenic	Neoplasm	RCV000434934	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;D009369;C0027651;108369006	no assertion criteria provided	tagSNP	rs1057519843
Clinvar_Rec_3161	rs587779791	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000646312;RCV000562223;RCV000115088	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779791
Clinvar_Rec_3162	rs863225349	Uncertain significance	Familial adenomatous polyposis 1;not specified	RCV000535752;RCV000202157	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, single submitter	tagSNP	rs863225349
Clinvar_Rec_3163	rs773963355	Uncertain significance	Familial adenomatous polyposis 1	RCV000699816	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs773963355
Clinvar_Rec_3164	rs773963355	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213506	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs773963355
Clinvar_Rec_3165	rs1554085448	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000554447;RCV000584688	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554085448
Clinvar_Rec_3166	rs863225351	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000802754;RCV001021699;RCV000202185	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863225351
Clinvar_Rec_3167	rs761886683	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	RCV000476826;RCV000570866;RCV000600295	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761886683
Clinvar_Rec_3168	rs750884499	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000571708;RCV000462602	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs750884499
Clinvar_Rec_3169	rs750884499	Uncertain significance	Familial adenomatous polyposis 1	RCV000708963	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs750884499
Clinvar_Rec_3170	rs386833393	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000817535;RCV000567010;RCV000034416	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs386833393
Clinvar_Rec_3171	rs1060503271	Uncertain significance	Familial adenomatous polyposis 1	RCV000459510	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503271
Clinvar_Rec_3172	rs776622357	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000222548;RCV000462280;RCV000429237	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776622357
Clinvar_Rec_3173	rs1561593719	Uncertain significance	Familial adenomatous polyposis 1	RCV000708966	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561593719
Clinvar_Rec_3174	rs904971132	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000476638;RCV000575920	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs904971132
Clinvar_Rec_3175	rs904971132	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV001049980;RCV000773750	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs904971132
Clinvar_Rec_3176	rs730881226	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571768	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs730881226
Clinvar_Rec_3177	rs730881226	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000813183;RCV000583326;RCV000159513	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881226
Clinvar_Rec_3178	rs1554086002	Uncertain significance	Familial adenomatous polyposis 1	RCV000550514	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554086002
Clinvar_Rec_3179	rs781328009	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000800595;RCV000564297	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs781328009
Clinvar_Rec_3180	rs863225357	Pathogenic	Familial adenomatous polyposis 1;not provided	RCV000700753;RCV000202166	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, single submitter	tagSNP	rs863225357
Clinvar_Rec_3181	rs769631477	Uncertain significance	Familial adenomatous polyposis 1	RCV000699905	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs769631477
Clinvar_Rec_3182	rs573468341	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583182	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs573468341
Clinvar_Rec_3183	rs573468341	Uncertain significance	Familial adenomatous polyposis 1	RCV000702754	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs573468341
Clinvar_Rec_3184	rs1554086074	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565290	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554086074
Clinvar_Rec_3185	rs72541812	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000572790;RCV000527417;RCV000426373	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72541812
Clinvar_Rec_3186	rs1554086098	Uncertain significance	Neoplasm of the liver	RCV000677752	Human Phenotype Ontology;MedGen;Orphanet	HP;C0023903;ORPHA306636	no assertion criteria provided	tagSNP	rs1554086098
Clinvar_Rec_3187	rs1060504890	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575832;RCV000473288;RCV000605703	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504890
Clinvar_Rec_3188	rs863224280	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000565268;RCV000656569	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs863224280
Clinvar_Rec_3189	rs863224280	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000775331;RCV000195834	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224280
Clinvar_Rec_3190	rs1561595516	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773567	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561595516
Clinvar_Rec_3191	rs587781512	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000129489;RCV000679060	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781512
Clinvar_Rec_3192	rs774847203	Pathogenic/Likely pathogenic	Familial adenomatous polyposis;not provided	RCV000780834;RCV000521142	MedGen	CN240755;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774847203
Clinvar_Rec_3193	rs879254265	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000772052;RCV000236443	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254265
Clinvar_Rec_3194	rs1554086240	Uncertain significance	Familial adenomatous polyposis 1	RCV000530475	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554086240
Clinvar_Rec_3195	rs1554086241	Uncertain significance	Carcinoma of colon;Desmoid disease, hereditary;Familial adenomatous polyposis 1;Familial adenomatous polyposis 1;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm of stomach	RCV000764564;RCV000764564;RCV000542952;RCV000764564;RCV000764564;RCV000564351;RCV000764564	MedGen;OMIM;SNOMED CT;OMIM;OMIM;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C0009402;114500;269533000;MedGen;135290;MedGen;175100;MedGen;175100;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D013274;C0038356;613659;126824007	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554086241
Clinvar_Rec_3196	rs1489248428	Uncertain significance	Familial adenomatous polyposis 1	RCV000559617	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1489248428
Clinvar_Rec_3197	rs1114167606	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000490943	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167606
Clinvar_Rec_3198	rs1479359302	Uncertain significance	Familial adenomatous polyposis 1	RCV000691329	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1479359302
Clinvar_Rec_3199	rs35634377	Benign/Likely benign	APC-Associated Polyposis Disorders;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000388181;RCV000123668;RCV000586060;RCV000211917	MedGen;Orphanet;SNOMED CT	CN239210;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35634377
Clinvar_Rec_3200	rs35634377	Conflicting interpretations of pathogenicity	APC-Associated Polyposis Disorders;Colorectal adenoma;Familial adenomatous polyposis 1;Familial multiple polyposis syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000264340;RCV000148365;RCV000987572;RCV000238996;RCV000115092;RCV000586737;RCV000200964	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	CN239210;MedGen;175100;MedGen;ORPHA733;72900001;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs111866410
Clinvar_Rec_3201	rs876659854	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000222795	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659854
Clinvar_Rec_3202	rs876660116	Likely benign	Familial adenomatous polyposis 1	RCV000549958	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs876660116
Clinvar_Rec_3203	rs876660116	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660116
Clinvar_Rec_3204	rs878853454	Pathogenic	Familial adenomatous polyposis 1	RCV000232552	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs878853454
Clinvar_Rec_3205	rs876658169	Likely benign	Familial adenomatous polyposis 1	RCV000646683	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs876658169
Clinvar_Rec_3206	rs876658169	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000218471;RCV000758731;RCV000418105	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658169
Clinvar_Rec_3207	rs370560998	Conflicting interpretations of pathogenicity	Colorectal cancer;Familial adenomatous polyposis 1;Familial multiple polyposis syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735965;RCV000148369;RCV000210376;RCV000115100;RCV000587987;RCV000120016	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1527249;MedGen;175100;MedGen;ORPHA733;72900001;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370560998
Clinvar_Rec_3208	rs863225363	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000204668;RCV000491031;RCV000202072	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863225363
Clinvar_Rec_3209	rs1391225195	Likely benign	Hereditary cancer-predisposing syndrome	RCV000570737	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1391225195
Clinvar_Rec_3210	rs1391225195	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562943	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1391225195
Clinvar_Rec_3211	rs1554086631	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000690890;RCV000572789	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554086631
Clinvar_Rec_3212	rs1554086646	Likely benign	Hereditary cancer-predisposing syndrome	RCV000561276	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554086646
Clinvar_Rec_3213	rs1561599316	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773807	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561599316
Clinvar_Rec_3214	rs952662066	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs952662066
Clinvar_Rec_3215	rs944674770	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000457044;RCV000561508	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs944674770
Clinvar_Rec_3216	rs944674770	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000532149;RCV000570548	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs944674770
Clinvar_Rec_3217	rs1312187161	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000796271;RCV000561244	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1312187161
Clinvar_Rec_3218	rs1373471882	Uncertain significance	Familial adenomatous polyposis 1	RCV000702345	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1373471882
Clinvar_Rec_3219	rs786202960	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166041	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202960
Clinvar_Rec_3220	rs459552	Benign	APC-Associated Polyposis Disorders;Familial adenomatous polyposis 1;Familial colorectal cancer;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000358689;RCV000020089;RCV000074239;RCV000132160;RCV000034393;RCV000035078	MedGen;OMIM;Orphanet;SNOMED CT	CN239210;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs459552
Clinvar_Rec_3221	rs459552	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000471267;RCV000216852;RCV000589084	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs459552
Clinvar_Rec_3222	rs878853457	Uncertain significance	Familial adenomatous polyposis 1	RCV000226508	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs878853457
Clinvar_Rec_3223	rs944332850	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000561936;RCV000646652	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs944332850
Clinvar_Rec_3224	rs944332850	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583285	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs944332850
Clinvar_Rec_3225	rs786204093	Uncertain significance	Familial adenomatous polyposis 1	RCV000168001	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs786204093
Clinvar_Rec_3226	rs1554086988	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000525206;RCV000572331	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554086988
Clinvar_Rec_3227	rs879254254	Uncertain significance	Familial adenomatous polyposis 1	RCV000537645	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs879254254
Clinvar_Rec_3228	rs754783550	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000463148;RCV000165007;RCV000484552	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754783550
Clinvar_Rec_3229	rs544669011	Uncertain significance	Familial adenomatous polyposis 1	RCV000469977	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs544669011
Clinvar_Rec_3230	rs957226267	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572397	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs957226267
Clinvar_Rec_3231	rs1561603419	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772810	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561603419
Clinvar_Rec_3232	rs587781330	Pathogenic	Familial adenomatous polyposis 1;Familial multiple polyposis syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000168219;RCV000825610;RCV000129077;RCV000202142	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA733;72900001;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781330
Clinvar_Rec_3233	rs578171579	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000532593;RCV000561415	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs578171579
Clinvar_Rec_3234	rs745885287	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000701083;RCV000221302	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs745885287
Clinvar_Rec_3235	rs587778032	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000579860;RCV000120018	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs587778032
Clinvar_Rec_3236	rs774815653	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000227428;RCV000571074	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs774815653
Clinvar_Rec_3237	rs372852823	Uncertain significance	Familial adenomatous polyposis 1	RCV000553230	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs372852823
Clinvar_Rec_3238	rs372852823	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000204751;RCV000775337	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs372852823
Clinvar_Rec_3239	rs1554087136	Uncertain significance	Familial adenomatous polyposis 1	RCV000533353	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554087136
Clinvar_Rec_3240	rs1554087137	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584103	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554087137
Clinvar_Rec_3241	rs863224546	Uncertain significance	Familial adenomatous polyposis 1;not provided	RCV000196363;RCV000236544	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224546
Clinvar_Rec_3242	rs1419565228	Uncertain significance	Familial adenomatous polyposis 1	RCV000646460	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1419565228
Clinvar_Rec_3243	rs370532497	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000167931;RCV000491513;RCV000159563	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370532497
Clinvar_Rec_3244	rs1433119360	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646499;RCV000773299	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1433119360
Clinvar_Rec_3245	rs921599281	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000549024;RCV000583375	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs921599281
Clinvar_Rec_3246	rs1561605668	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777098	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561605668
Clinvar_Rec_3247	rs1064796527	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000807054;RCV001024978;RCV000481933	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064796527
Clinvar_Rec_3248	rs374464049	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575640	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs374464049
Clinvar_Rec_3249	rs374464049	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000646323;RCV000564209;RCV000657112;RCV000236846	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374464049
Clinvar_Rec_3250	rs1554087905	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646373;RCV001025917	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554087905
Clinvar_Rec_3251	rs1060503377	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000462871;RCV000571828	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503377
Clinvar_Rec_3252	rs761268806	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001025930;RCV000427413	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761268806
Clinvar_Rec_3253	rs748940586	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000646407;RCV000582404;RCV000485956	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748940586
Clinvar_Rec_3254	rs773108684	Uncertain significance	Familial adenomatous polyposis 1	RCV000646434	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs773108684
Clinvar_Rec_3255	rs773108684	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000213378;RCV000560581;RCV000435364	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773108684
Clinvar_Rec_3256	rs1060503342	Uncertain significance	Familial adenomatous polyposis 1	RCV000463393	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1060503342
Clinvar_Rec_3257	rs1057520428	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001025965;RCV000419983	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520428
Clinvar_Rec_3258	rs750960862	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000205327;RCV001026011	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs750960862
Clinvar_Rec_3259	rs747844776	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000213656;RCV000556813;RCV000442345	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747844776
Clinvar_Rec_3260	rs762167924	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000685429;RCV000218412	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs762167924
Clinvar_Rec_3261	rs786203777	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167228	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203777
Clinvar_Rec_3262	rs587782711	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000472546;RCV000132185	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782711
Clinvar_Rec_3263	rs886039687	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV001026088;RCV000255086	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039687
Clinvar_Rec_3264	rs1554088069	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000691835;RCV000567622	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554088069
Clinvar_Rec_3265	rs1554088077	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573052	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088077
Clinvar_Rec_3266	rs756153152	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000203991;RCV000568621;RCV000236701	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756153152
Clinvar_Rec_3267	rs1008025963	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000697342;RCV000566762	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1008025963
Clinvar_Rec_3268	rs754320004	Uncertain significance	Familial adenomatous polyposis 1	RCV000550961	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs754320004
Clinvar_Rec_3269	rs754320004	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646516;RCV000568737	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs754320004
Clinvar_Rec_3270	rs755345693	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000698172;RCV000491662	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs755345693
Clinvar_Rec_3271	rs2229994	Uncertain significance	Familial adenomatous polyposis 1	RCV000472704	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs2229994
Clinvar_Rec_3272	rs2229994	Benign/Likely benign	APC-Associated Polyposis Disorders;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000303809;RCV000128900;RCV000755461;RCV000035082	MedGen;Orphanet;SNOMED CT	CN239210;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229994
Clinvar_Rec_3273	rs1554088172	Likely benign	Familial adenomatous polyposis 1	RCV000545869	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554088172
Clinvar_Rec_3274	rs1482981174	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579618	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1482981174
Clinvar_Rec_3275	rs1114167590	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000809968;RCV000491189	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167590
Clinvar_Rec_3276	rs1554088251	Uncertain significance	Familial adenomatous polyposis 1	RCV000646436	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554088251
Clinvar_Rec_3277	rs1561615537	Uncertain significance	Familial adenomatous polyposis 1	RCV000707053	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561615537
Clinvar_Rec_3278	rs1554088371	Uncertain significance	Neoplasm of stomach	RCV000677745	Human Phenotype Ontology;MeSH;MedGen;OMIM;SNOMED CT	HP;D013274;C0038356;613659;126824007	no assertion criteria provided	tagSNP	rs1554088371
Clinvar_Rec_3279	rs369075403	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000820242;RCV000580264	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs369075403
Clinvar_Rec_3280	rs369075403	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000226252;RCV000164068;RCV000590327	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369075403
Clinvar_Rec_3281	rs1554088389	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569767	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088389
Clinvar_Rec_3282	rs1554088391	Pathogenic/Likely pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000646506;RCV000561579;RCV000758744	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554088391
Clinvar_Rec_3283	rs1554088422	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000821156;RCV000564495	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554088422
Clinvar_Rec_3284	rs876659798	Likely benign	Hereditary cancer-predisposing syndrome	RCV000217606	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659798
Clinvar_Rec_3285	rs1561616229	Uncertain significance	Familial adenomatous polyposis 1	RCV000697482	MedGen;OMIM	C2713442;175100	criteria provided, multiple submitters, no conflicts	tagSNP	rs1561616229
Clinvar_Rec_3286	rs1060503315	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000474671;RCV001026533	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503315
Clinvar_Rec_3287	rs587780604	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000562932;RCV000122801;RCV000507547	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780604
Clinvar_Rec_3288	rs1355563057	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000987584;RCV000581290	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1355563057
Clinvar_Rec_3289	rs780270498	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162611;RCV000205296;RCV000615117	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780270498
Clinvar_Rec_3290	rs749324187	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not specified	RCV000205801;RCV000583736;RCV000437174	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs749324187
Clinvar_Rec_3291	rs772318413	Uncertain significance	Familial adenomatous polyposis 1	RCV000199317	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs772318413
Clinvar_Rec_3292	rs1213302882	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646282;RCV001026680	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1213302882
Clinvar_Rec_3293	rs985452718	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000695439;RCV001026737	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs985452718
Clinvar_Rec_3294	rs1561617778	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000772432	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1561617778
Clinvar_Rec_3295	rs1114167572	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491729	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167572
Clinvar_Rec_3296	rs1114167572	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773146	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167572
Clinvar_Rec_3297	rs367676584	Conflicting interpretations of pathogenicity	Colorectal adenoma;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000148361;RCV000458485;RCV000215340;RCV000483957	MedGen;OMIM;Orphanet;SNOMED CT	C1302401;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367676584
Clinvar_Rec_3298	rs1425732484	Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000551771;RCV000777224	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1425732484
Clinvar_Rec_3299	rs747339588	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000232733;RCV000563888;RCV000766657;RCV000235712	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747339588
Clinvar_Rec_3300	rs1554088662	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565041	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088662
Clinvar_Rec_3301	rs1554088662	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000776922;RCV000862200;RCV001001436	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554088662
Clinvar_Rec_3302	rs730881267	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000646394;RCV000159578;RCV000211936	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881267
Clinvar_Rec_3303	rs876659925	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213566	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659925
Clinvar_Rec_3304	rs1554088689	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571446	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088689
Clinvar_Rec_3305	rs587778037	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000547525;RCV000572911	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778037
Clinvar_Rec_3306	rs587778037	Uncertain significance	Colon adenocarcinoma;Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000677760;RCV000230402;RCV000774673;RCV000586315;RCV000120033	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338106;MedGen;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778037
Clinvar_Rec_3307	rs1057520909	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000490953;RCV000464212;RCV000443035	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520909
Clinvar_Rec_3308	rs1554088722	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580571	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088722
Clinvar_Rec_3309	rs754051042	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573442;RCV000945318	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754051042
Clinvar_Rec_3310	rs879254231	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000809703;RCV000575151;RCV000235631	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254231
Clinvar_Rec_3311	rs1554088784	Likely benign	Familial adenomatous polyposis 1	RCV000540545	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554088784
Clinvar_Rec_3312	rs1561619590	Uncertain significance	B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	RCV000761072	MedGen	C2698310	no assertion criteria provided	tagSNP	rs1561619590
Clinvar_Rec_3313	rs1060503277	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000463313;RCV000575522	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503277
Clinvar_Rec_3314	rs1561620240	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000708644	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561620240
Clinvar_Rec_3315	rs757901425	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000470997;RCV000561345;RCV000236452;RCV000779729	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757901425
Clinvar_Rec_3316	rs76933416	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000551171;RCV000563424	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs76933416
Clinvar_Rec_3317	rs76933416	Uncertain significance	Familial adenomatous polyposis 1;Familial colorectal cancer	RCV000987590;RCV000074247	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, single submitter	tagSNP	rs76933416
Clinvar_Rec_3318	rs876658201	Uncertain significance	Familial adenomatous polyposis 1	RCV000469879	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs876658201
Clinvar_Rec_3319	rs876658201	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215914	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658201
Clinvar_Rec_3320	rs1429919728	Uncertain significance	Familial adenomatous polyposis 1	RCV000646427	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1429919728
Clinvar_Rec_3321	rs1291474243	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000646300;RCV000580663;RCV000985324	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1291474243
Clinvar_Rec_3322	rs786201421	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000163598;RCV000458677	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201421
Clinvar_Rec_3323	rs771591963	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568183	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs771591963
Clinvar_Rec_3324	rs1554088985	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574199	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554088985
Clinvar_Rec_3325	rs786201446	Likely benign	Hereditary cancer-predisposing syndrome	RCV000163661	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201446
Clinvar_Rec_3326	rs786201446	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218883	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201446
Clinvar_Rec_3327	rs1170470482	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567316	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1170470482
Clinvar_Rec_3328	rs1060503341	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000471646;RCV001027324;RCV000587487	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503341
Clinvar_Rec_3329	rs1441515372	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646443;RCV000773298	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1441515372
Clinvar_Rec_3330	rs369721828	Conflicting interpretations of pathogenicity	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000197863;RCV000115128;RCV000590250;RCV000722129	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369721828
Clinvar_Rec_3331	rs1383526361	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646508;RCV001027337	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1383526361
Clinvar_Rec_3332	rs1057520223	Uncertain significance	Familial adenomatous polyposis 1;not provided	RCV000468961;RCV000427961	MedGen;OMIM	C2713442;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520223
Clinvar_Rec_3333	rs1057520223	Uncertain significance	Familial adenomatous polyposis 1	RCV000541477	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1057520223
Clinvar_Rec_3334	rs1561622234	Uncertain significance	Familial adenomatous polyposis 1	RCV000699727	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561622234
Clinvar_Rec_3335	rs1554089060	Uncertain significance	Familial adenomatous polyposis 1	RCV000646331	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554089060
Clinvar_Rec_3336	rs1561622356	Uncertain significance	Familial adenomatous polyposis 1	RCV000694913	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1561622356
Clinvar_Rec_3337	rs1561622483	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776988	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1561622483
Clinvar_Rec_3338	rs1057522374	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001017768;RCV000425159	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522374
Clinvar_Rec_3339	rs1057522374	Uncertain significance	Familial adenomatous polyposis 1	RCV000466263	MedGen;OMIM	C2713442;175100	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522374
Clinvar_Rec_3340	rs864622247	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000583687;RCV000203776;RCV000604446	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622247
Clinvar_Rec_3341	rs786203301	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV001069893;RCV000166548	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203301
Clinvar_Rec_3342	rs200790804	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001017822;RCV000034423	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs200790804
Clinvar_Rec_3343	rs780049836	Uncertain significance	Carcinoma of colon;Desmoid disease, hereditary;Familial adenomatous polyposis 1;Familial adenomatous polyposis 1;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm of stomach;not provided;not specified	RCV000765792;RCV000765792;RCV000196318;RCV000765792;RCV000765792;RCV000567493;RCV000765792;RCV000478701;RCV000779724	MedGen;OMIM;SNOMED CT;OMIM;OMIM;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C0009402;114500;269533000;MedGen;135290;MedGen;175100;MedGen;175100;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D013274;C0038356;613659;126824007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780049836
Clinvar_Rec_3344	rs1554089167	Uncertain significance	Familial adenomatous polyposis 1	RCV000542236	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554089167
Clinvar_Rec_3345	rs1554089167	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773813	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554089167
Clinvar_Rec_3346	rs1554089195	Uncertain significance	Familial adenomatous polyposis 1	RCV000646492	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554089195
Clinvar_Rec_3347	rs1554089197	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000581484;RCV000934813	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554089197
Clinvar_Rec_3348	rs878853479	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575744;RCV000231414;RCV000606396	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853479
Clinvar_Rec_3349	rs753003333	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001017942;RCV000470506	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753003333
Clinvar_Rec_3350	rs1804197	Benign	APC-Associated Polyposis Disorders;Familial colorectal cancer;not specified	RCV000383415;RCV000074248;RCV000249942	MedGen	CN239210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1804197
Clinvar_Rec_3351	rs550859194	Pathogenic	Familial adenomatous polyposis 1	RCV000168200	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	LD derived	rs559510809
Clinvar_Rec_3352	rs188123227	other	Familial colorectal cancer	RCV000073588	MedGen	CN029768	no assertion criteria provided	LD derived	rs78185547
Clinvar_Rec_3353	rs1057516310	Likely pathogenic	Bifunctional peroxisomal enzyme deficiency	RCV000410593	MedGen;OMIM;Orphanet;SNOMED CT	C0342870;261515;ORPHA300;238068007	criteria provided, single submitter	tagSNP	rs1057516310
Clinvar_Rec_3354	rs184492796	Conflicting interpretations of pathogenicity	Bifunctional peroxisomal enzyme deficiency;Perrault syndrome;not provided;not specified	RCV000264639;RCV000359350;RCV000906457;RCV000217919	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342870;261515;ORPHA300;238068007;MedGen;ORPHA2855;93466004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs184492796
Clinvar_Rec_3355	rs543194892	Uncertain significance	Bifunctional peroxisomal enzyme deficiency;Perrault syndrome	RCV000389434;RCV000278470	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342870;261515;ORPHA300;238068007;MedGen;ORPHA2855;93466004	criteria provided, single submitter	tagSNP	rs543194892
Clinvar_Rec_3356	rs185522709	Uncertain significance	Bifunctional peroxisomal enzyme deficiency;Perrault syndrome	RCV000317273;RCV000374259	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342870;261515;ORPHA300;238068007;MedGen;ORPHA2855;93466004	criteria provided, single submitter	tagSNP	rs185522709
Clinvar_Rec_3357	rs1568569941	Pathogenic	Pigmentary pallidal degeneration	RCV000703387	MedGen;OMIM;Orphanet;SNOMED CT	C0018523;234200;ORPHA157850;2992000	criteria provided, single submitter	tagSNP	rs1568569941
Clinvar_Rec_3358	rs1427550015	Uncertain significance	Pigmentary pallidal degeneration	RCV000692561	MedGen;OMIM;Orphanet;SNOMED CT	C0018523;234200;ORPHA157850;2992000	criteria provided, single submitter	tagSNP	rs1427550015
Clinvar_Rec_3359	rs62643364	Benign	Genetic prion diseases;Huntington disease-like 1	RCV000340924;RCV000644591	MedGen;Orphanet;OMIM;Orphanet	C0162534;ORPHA56970;MedGen;603218;ORPHA157941	criteria provided, multiple submitters, no conflicts	tagSNP	rs62643364
Clinvar_Rec_3360	rs7274758	Benign	Genetic prion diseases	RCV000379630	MedGen;Orphanet	C0162534;ORPHA56970	criteria provided, single submitter	tagSNP	rs7274758
Clinvar_Rec_3361	rs7274758	Benign	Genetic prion diseases;Huntington disease-like 1	RCV000287089;RCV000539354	MedGen;Orphanet;OMIM;Orphanet	C0162534;ORPHA56970;MedGen;603218;ORPHA157941	criteria provided, multiple submitters, no conflicts	LD derived	rs8124214
Clinvar_Rec_3362	rs886056749	Uncertain significance	Genetic prion diseases	RCV000365069	MedGen;Orphanet	C0162534;ORPHA56970	criteria provided, single submitter	tagSNP	rs886056749
Clinvar_Rec_3363	rs235768	Benign	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES;not specified	RCV000990280;RCV000177127	MedGen;OMIM	C4693481;617877;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs235768
Clinvar_Rec_3364	rs190019296	Uncertain significance	Early infantile epileptic encephalopathy 12;Seizures	RCV000555682;RCV000716999	MedGen;OMIM;MedGen	C3150988;613722;Human Phenotype Ontology;C0036572	criteria provided, multiple submitters, no conflicts	tagSNP	rs190019296
Clinvar_Rec_3365	rs765987244	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	RCV000374630	MedGen	CN239237	criteria provided, single submitter	tagSNP	rs765987244
Clinvar_Rec_3366	rs886056985	Uncertain significance	Auriculocondylar syndrome	RCV000403774	MedGen;Orphanet	CN160484;ORPHA137888	criteria provided, single submitter	tagSNP	rs886056985
Clinvar_Rec_3367	rs79940214	Likely benign	Bardet-Biedl syndrome;not specified	RCV000339174;RCV000253524	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79940214
Clinvar_Rec_3368	rs79940214	Likely benign	Bardet-Biedl syndrome;not specified	RCV000291235;RCV000245522	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74703166
Clinvar_Rec_3369	rs529616719	Uncertain significance	Alagille syndrome 1;not provided	RCV001054389;RCV000200413	MedGen;OMIM;Orphanet;Orphanet	C1956125;118450;ORPHA261600;ORPHA261619;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs375017114
Clinvar_Rec_3370	rs80233229	Benign/Likely benign	Arteriohepatic dysplasia;Cardiovascular phenotype;Isolated Nonsyndromic Congenital Heart Disease;not specified	RCV000398297;RCV000620175;RCV000343444;RCV000035331	MedGen;Orphanet;SNOMED CT	C0085280;ORPHA52;31742004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1051415
Clinvar_Rec_3371	rs559044448	Uncertain significance	Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease	RCV000401543;RCV000343993	MedGen;Orphanet;SNOMED CT	C0085280;ORPHA52;31742004;MedGen	criteria provided, single submitter	tagSNP	rs559044448
Clinvar_Rec_3372	rs1051412	Benign	Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease	RCV000401777;RCV000312591	MedGen;Orphanet;SNOMED CT	C0085280;ORPHA52;31742004;MedGen	criteria provided, single submitter	tagSNP	rs1051412
Clinvar_Rec_3373	rs750345068	Likely pathogenic	Smith-Lemli-Opitz syndrome	RCV000169596	MedGen;OMIM;Orphanet;SNOMED CT	C0175694;270400;ORPHA818;43929004	criteria provided, single submitter	tagSNP	rs750345068
Clinvar_Rec_3374	rs949324	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000343916;RCV000712230;RCV000037017	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12272086
Clinvar_Rec_3375	rs949324	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000353831	MedGen	CN239439	criteria provided, single submitter	LD derived	rs73543612
Clinvar_Rec_3376	rs949323	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000343916;RCV000712230;RCV000037017	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12272086
Clinvar_Rec_3377	rs949323	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000353831	MedGen	CN239439	criteria provided, single submitter	LD derived	rs73543612
Clinvar_Rec_3378	rs139361195	Uncertain significance	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	RCV000686571	MedGen;OMIM;Orphanet	C4225393;616271;ORPHA445038	criteria provided, single submitter	tagSNP	rs139361195
Clinvar_Rec_3379	rs141695803	Uncertain significance	Brugada syndrome 6	RCV000647296	MedGen;OMIM	C2751089;613119	criteria provided, single submitter	tagSNP	rs141695803
Clinvar_Rec_3380	rs141880803	Uncertain significance	Brugada syndrome 6	RCV000647293	MedGen;OMIM	C2751089;613119	criteria provided, single submitter	tagSNP	rs141880803
Clinvar_Rec_3381	rs585821	Benign	Osteogenesis Imperfecta, Recessive;not specified	RCV000291222;RCV000613505	MedGen	CN239451;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs585821
Clinvar_Rec_3382	rs9175	Benign	Osteogenesis Imperfecta, Recessive	RCV000342722	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs9175
Clinvar_Rec_3383	rs1555082041	Likely pathogenic	Deafness, autosomal recessive 2	RCV000666719	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	tagSNP	rs1555082041
Clinvar_Rec_3384	rs539145225	Pathogenic	Rare genetic deafness;Usher syndrome, type 1B	RCV000036148;RCV000012621	MedGen;Orphanet	CN826980;ORPHA96210;MedGen	criteria provided, single submitter	LD derived	rs121965079
Clinvar_Rec_3385	rs104894160	Pathogenic	Congenital hypomyelinating neuropathy 1, autosomal dominant;Congenital hypomyelinating neuropathy 1, autosomal recessive	RCV000018235;RCV000032122	MedGen;OMIM;Orphanet	CN257485;MedGen;605253;ORPHA99951	no assertion criteria provided	tagSNP	rs104894160
Clinvar_Rec_3386	rs147604283	Uncertain significance	Charcot-Marie-Tooth disease, type I;not provided	RCV000797593;RCV000175594	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147604283
Clinvar_Rec_3387	rs754194693	Uncertain significance	Early myoclonic encephalopathy	RCV000706579	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs754194693
Clinvar_Rec_3388	rs776725326	Uncertain significance	Early myoclonic encephalopathy	RCV000635168	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs776725326
Clinvar_Rec_3389	rs1554840033	Uncertain significance	Early myoclonic encephalopathy	RCV000549285	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs1554840033
Clinvar_Rec_3390	rs1564621588	Uncertain significance	Early myoclonic encephalopathy	RCV000706521	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs1564621588
Clinvar_Rec_3391	rs41274072	Benign	Early myoclonic encephalopathy	RCV000528886	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs41274072
Clinvar_Rec_3392	rs763576839	Uncertain significance	Early myoclonic encephalopathy	RCV000686086	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs763576839
Clinvar_Rec_3393	rs1200405630	Uncertain significance	Dilated cardiomyopathy 1KK	RCV000695557	MedGen;OMIM	C3714995;615248	criteria provided, single submitter	tagSNP	rs1200405630
Clinvar_Rec_3394	rs145440469	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy 1KK;not provided;not specified	RCV000618785;RCV000460814;RCV000858507;RCV000222107	MedGen;OMIM	CN230736;MedGen;615248;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145440469
Clinvar_Rec_3395	rs1060503577	Uncertain significance	Dilated cardiomyopathy 1KK	RCV000475883	MedGen;OMIM	C3714995;615248	criteria provided, single submitter	tagSNP	rs1060503577
Clinvar_Rec_3396	rs765235855	Uncertain significance	Heterotaxia;Holoprosencephaly sequence	RCV000399851;RCV000299723	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	HP;C3178805;ORPHA450;Human Phenotype Ontology;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs765235855
Clinvar_Rec_3397	rs1889490	Benign	Familial hemophagocytic lymphohistiocytosis	RCV000375811	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003	criteria provided, single submitter	tagSNP	rs1889490
Clinvar_Rec_3398	rs1084004	Benign	Histiocytosis-lymphadenopathy plus syndrome;not specified	RCV000318573;RCV000118375	MedGen;OMIM;Orphanet	C1864445;602782;ORPHA168569;MedGen	criteria provided, single submitter	tagSNP	rs1084004
Clinvar_Rec_3399	rs527551448	Uncertain significance	Histiocytosis-lymphadenopathy plus syndrome	RCV000399528	MedGen;OMIM;Orphanet	C1864445;602782;ORPHA168569	criteria provided, single submitter	tagSNP	rs527551448
Clinvar_Rec_3400	rs886047119	Uncertain significance	Histiocytosis-lymphadenopathy plus syndrome	RCV000354290	MedGen;OMIM;Orphanet	C1864445;602782;ORPHA168569	criteria provided, single submitter	tagSNP	rs886047119
Clinvar_Rec_3401	rs777227555	Conflicting interpretations of pathogenicity	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not provided	RCV000299749;RCV000356874;RCV000259660;RCV000317255;RCV000932186	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs777227555
Clinvar_Rec_3402	rs749663645	Uncertain significance	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy	RCV000386288;RCV000333973;RCV000276629;RCV000294309	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs749663645
Clinvar_Rec_3403	rs886047152	Uncertain significance	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy	RCV000288083;RCV000382490;RCV000268193;RCV000323233	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs886047152
Clinvar_Rec_3404	rs138010978	Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy	RCV000316930;RCV000371674;RCV000275892;RCV000263028	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs138010978
Clinvar_Rec_3405	rs569841336	Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy	RCV000357433;RCV000408218;RCV000369974;RCV000297923	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs569841336
Clinvar_Rec_3406	rs375720661	Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not specified	RCV000265215;RCV000320357;RCV000266404;RCV000360960;RCV000245942	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375720661
Clinvar_Rec_3407	rs184636110	Conflicting interpretations of pathogenicity	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations;not provided	RCV000299777;RCV000401498;RCV000339457;RCV000335960;RCV000973776	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463;MedGen	criteria provided, conflicting interpretations	tagSNP	rs184636110
Clinvar_Rec_3408	rs374954414	Likely benign	Spondyloepiphyseal dysplasia with congenital joint dislocations;not provided	RCV000625365;RCV000940588	MedGen;OMIM;Orphanet	C1840471;143095;ORPHA263463;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374954414
Clinvar_Rec_3409	rs181471425	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000390324;RCV000346707;RCV000312843;RCV000395294	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs181471425
Clinvar_Rec_3410	rs181471425	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000305844;RCV000307071;RCV000267046;RCV000364038	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs186004202
Clinvar_Rec_3411	rs181471425	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000286319;RCV000338969;RCV000327083;RCV000379390	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115617050
Clinvar_Rec_3412	rs181471425	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000338818;RCV000397014;RCV000281547;RCV000397003	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115617050
Clinvar_Rec_3413	rs181471425	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000335862;RCV000375155;RCV000318256;RCV000278403	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs4148942
Clinvar_Rec_3414	rs186004202	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000305844;RCV000307071;RCV000267046;RCV000364038	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs186004202
Clinvar_Rec_3415	rs186004202	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000390324;RCV000346707;RCV000312843;RCV000395294	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs181471425
Clinvar_Rec_3416	rs186004202	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000286319;RCV000338969;RCV000327083;RCV000379390	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115617050
Clinvar_Rec_3417	rs186004202	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000338818;RCV000397014;RCV000281547;RCV000397003	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115617050
Clinvar_Rec_3418	rs186004202	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000335862;RCV000375155;RCV000318256;RCV000278403	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs4148942
Clinvar_Rec_3419	rs886047178	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000355660;RCV000394345;RCV000263280;RCV000298593	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs886047178
Clinvar_Rec_3420	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000403597;RCV000348363;RCV000335472;RCV000300466	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs76750860
Clinvar_Rec_3421	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000312993;RCV000352703;RCV000399744;RCV000349168	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs77359818
Clinvar_Rec_3422	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000330718;RCV000320125;RCV000294380;RCV000374735	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs116289781
Clinvar_Rec_3423	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000268788;RCV000328493;RCV000381955;RCV000332005	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs150678709
Clinvar_Rec_3424	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000337280;RCV000370895;RCV000311615;RCV000395801	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114563668
Clinvar_Rec_3425	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000296566;RCV000350467;RCV000390597;RCV000293174	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs116391584
Clinvar_Rec_3426	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000344754;RCV000287484;RCV000291076;RCV000405434	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115489836
Clinvar_Rec_3427	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000339376;RCV000394342;RCV000304251;RCV000361262	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114457501
Clinvar_Rec_3428	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000403865;RCV000334855;RCV000286195;RCV000341071	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs77908871
Clinvar_Rec_3429	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000405775;RCV000310709;RCV000346802;RCV000397805	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs79559408
Clinvar_Rec_3430	rs76750860	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000313744;RCV000349883;RCV000395543;RCV000390824	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114800040
Clinvar_Rec_3431	rs552578786	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000309011;RCV000397833;RCV000313855;RCV000363736	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs552578786
Clinvar_Rec_3432	rs886047182	Uncertain significance	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000384401;RCV000344900;RCV000401900;RCV000287698	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs886047182
Clinvar_Rec_3433	rs181757719	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000320872	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs181757719
Clinvar_Rec_3434	rs561656297	Likely benign	Quebec platelet disorder	RCV000347880	MedGen;OMIM;Orphanet	C1866423;601709;ORPHA220436	criteria provided, single submitter	LD derived	rs545559536
Clinvar_Rec_3435	rs190769030	Likely benign	Quebec platelet disorder	RCV000376246	MedGen;OMIM;Orphanet	C1866423;601709;ORPHA220436	criteria provided, single submitter	tagSNP	rs190769030
Clinvar_Rec_3436	rs190769030	Likely benign	Quebec platelet disorder	RCV000370180	MedGen;OMIM;Orphanet	C1866423;601709;ORPHA220436	criteria provided, single submitter	LD derived	rs142117323
Clinvar_Rec_3437	rs886047215	Uncertain significance	Dilated Cardiomyopathy, Dominant	RCV000313945	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs886047215
Clinvar_Rec_3438	rs71579353	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy 1W;Familial dilated cardiomyopathy;Familial hypertrophic cardiomyopathy 15;Hypertrophic cardiomyopathy;not provided	RCV000617420;RCV000645321;RCV000845477;RCV000012982;RCV000768535;RCV000994445	MedGen;OMIM;Orphanet;OMIM;MedGen;Orphanet	CN230736;MedGen;611407;MedGen;ORPHA217607;MedGen;613255;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs71579353
Clinvar_Rec_3439	rs886047217	Uncertain significance	Dilated cardiomyopathy 1W	RCV000384233	MedGen;OMIM	C1969639;611407	criteria provided, single submitter	tagSNP	rs886047217
Clinvar_Rec_3440	rs1312868617	Uncertain significance	Wolff-Parkinson-White pattern	RCV000656218	MedGen;OMIM;Orphanet;SNOMED CT	C0043202;194200;ORPHA907;74390002	no assertion criteria provided	tagSNP	rs1312868617
Clinvar_Rec_3441	rs886047226	Uncertain significance	Dilated Cardiomyopathy, Dominant	RCV000378650	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs886047226
Clinvar_Rec_3442	rs770545156	Uncertain significance	KAT6B-Related Spectrum Disorders	RCV000389614	MedGen	CN239406	criteria provided, single submitter	tagSNP	rs770545156
Clinvar_Rec_3443	rs188787788	Likely benign	KAT6B-Related Spectrum Disorders	RCV000374399	MedGen	CN239406	criteria provided, single submitter	tagSNP	rs188787788
Clinvar_Rec_3444	rs147943467	Uncertain significance	Macular corneal dystrophy Type I	RCV000399352	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005	criteria provided, single submitter	LD derived	rs114790233
Clinvar_Rec_3445	rs137868909	Uncertain significance	Macular corneal dystrophy Type I	RCV000397840	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005	criteria provided, single submitter	tagSNP	rs137868909
Clinvar_Rec_3446	rs137868909	Uncertain significance	Macular corneal dystrophy Type I	RCV000301338	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005	criteria provided, single submitter	tagSNP	rs137868909
Clinvar_Rec_3447	rs137868909	Uncertain significance	Macular corneal dystrophy Type I	RCV000278920	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005	criteria provided, single submitter	LD derived	rs139900788
Clinvar_Rec_3448	rs137868909	Uncertain significance	Macular corneal dystrophy Type I	RCV000359353	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005	criteria provided, single submitter	LD derived	rs117741124
Clinvar_Rec_3449	rs137868909	Conflicting interpretations of pathogenicity	Macular corneal dystrophy Type I;not provided	RCV000387102;RCV000859786	MedGen;OMIM;Orphanet;SNOMED CT	C1636149;217800;ORPHA98969;418054005;MedGen	criteria provided, conflicting interpretations	LD derived	rs141905571
Clinvar_Rec_3450	rs1438602210	Likely benign	Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12	RCV000650214;RCV000650214	MedGen;OMIM;Orphanet;Orphanet;OMIM;Orphanet	C3463992;308350;ORPHA3175;ORPHA364063;MedGen;614322;ORPHA284282	criteria provided, single submitter	tagSNP	rs1438602210
Clinvar_Rec_3451	rs201008667	Pathogenic/Likely pathogenic	Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided	RCV000798699;RCV000798699;RCV000521914	MedGen;OMIM;Orphanet;Orphanet;OMIM;Orphanet	C3463992;308350;ORPHA3175;ORPHA364063;MedGen;614322;ORPHA284282;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201008667
Clinvar_Rec_3452	rs786205222	Pathogenic	Cataract 21, multiple types	RCV000170459	MedGen;OMIM	C3888097;610202	no assertion criteria provided	tagSNP	rs786205222
Clinvar_Rec_3453	rs200964845	Uncertain significance	Giant axonal neuropathy 1	RCV000330563	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	tagSNP	rs200964845
Clinvar_Rec_3454	rs886052356	Uncertain significance	Deficiency of malonyl-CoA decarboxylase	RCV000375181	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0342793;248360;ORPHA943;124594007;361203007	criteria provided, single submitter	tagSNP	rs886052356
Clinvar_Rec_3455	rs563907654	Uncertain significance	Deficiency of malonyl-CoA decarboxylase	RCV000635382	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0342793;248360;ORPHA943;124594007;361203007	criteria provided, single submitter	tagSNP	rs563907654
Clinvar_Rec_3456	rs886052359	Uncertain significance	Deficiency of malonyl-CoA decarboxylase	RCV000354480	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0342793;248360;ORPHA943;124594007;361203007	criteria provided, single submitter	tagSNP	rs886052359
Clinvar_Rec_3457	rs1057518868	Likely pathogenic	Fetal megacystis;Urethral atresia;Ventricular septal defect	RCV000415110;RCV000415110;RCV000415110	Human Phenotype Ontology;MedGen;MedGen;MedGen;Orphanet;SNOMED CT	HP;C2931117;Human Phenotype Ontology;C1610065;Human Phenotype Ontology;C0018818;ORPHA1480;30288003	criteria provided, single submitter	tagSNP	rs1057518868
Clinvar_Rec_3458	rs1555518955	Uncertain significance	Gastroesophageal reflux;Joint hypermobility;Myopia (disease);Poor wound healing;Soft skin;Spontaneous hematomas;Striae distensae;Thoracic scoliosis	RCV000626757;RCV000626757;RCV000626757;RCV000626757;RCV000626757;RCV000626757;RCV000626757;RCV000626757	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C4317146;Human Phenotype Ontology;C1844820;Human Phenotype Ontology;C0027092;Human Phenotype Ontology;C1851789;Human Phenotype Ontology;C1844592;Human Phenotype Ontology;C1697453;Human Phenotype Ontology;C0152459;Human Phenotype Ontology;C1857790	criteria provided, single submitter	tagSNP	rs1555518955
Clinvar_Rec_3459	rs768667107	Uncertain significance	Brittle cornea syndrome 1	RCV000768369	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	criteria provided, single submitter	tagSNP	rs768667107
Clinvar_Rec_3460	rs762487170	Uncertain significance	Brittle cornea syndrome 1	RCV000349899	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	criteria provided, single submitter	tagSNP	rs762487170
Clinvar_Rec_3461	rs529250336	Uncertain significance	Brittle cornea syndrome 1	RCV000269888	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	criteria provided, single submitter	tagSNP	rs529250336
Clinvar_Rec_3462	rs3812954	Benign/Likely benign	Brittle cornea syndrome 1;not specified	RCV000400225;RCV000425168	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3812954
Clinvar_Rec_3463	rs569619739	Uncertain significance	Brittle cornea syndrome 1;not provided	RCV000764087;RCV000268027	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs567038987
Clinvar_Rec_3464	rs569619739	Conflicting interpretations of pathogenicity	Morquio syndrome;not provided;not specified	RCV000394668;RCV000973824;RCV000249866	MedGen;Orphanet;SNOMED CT	C0026707;ORPHA582;378007;MedGen	criteria provided, conflicting interpretations	LD derived	rs140299014
Clinvar_Rec_3465	rs886052415	Conflicting interpretations of pathogenicity	Brittle cornea syndrome 1;not specified	RCV000282944;RCV000613115	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886052415
Clinvar_Rec_3466	rs179363892	Pathogenic	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not provided	RCV000687649;RCV000059044	MedGen;OMIM	C1856255;233690;MedGen	criteria provided, single submitter	tagSNP	rs179363892
Clinvar_Rec_3467	rs387906584	Pathogenic	Adenine phosphoribosyltransferase deficiency	RCV000019964	MedGen;OMIM;Orphanet	C0268120;614723;ORPHA976	no assertion criteria provided	tagSNP	rs387906584
Clinvar_Rec_3468	rs104894506	Pathogenic	Adenine phosphoribosyltransferase deficiency	RCV000033903	MedGen;OMIM;Orphanet	C0268120;614723;ORPHA976	no assertion criteria provided	tagSNP	rs104894506
Clinvar_Rec_3469	rs60396196	Benign/Likely benign	Morquio syndrome;not provided;not specified	RCV000378709;RCV000675532;RCV000079023	MedGen;Orphanet;SNOMED CT	C0026707;ORPHA582;378007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2303269
Clinvar_Rec_3470	rs577873893	Uncertain significance	Brittle cornea syndrome 1;not provided	RCV000764087;RCV000268027	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs567038987
Clinvar_Rec_3471	rs577873893	Conflicting interpretations of pathogenicity	Morquio syndrome;not provided;not specified	RCV000394668;RCV000973824;RCV000249866	MedGen;Orphanet;SNOMED CT	C0026707;ORPHA582;378007;MedGen	criteria provided, conflicting interpretations	LD derived	rs140299014
Clinvar_Rec_3472	rs545886514	Uncertain significance	Combined malonic and methylmalonic aciduria	RCV000685625	MedGen;OMIM;Orphanet	C3280314;614265;ORPHA289504	criteria provided, single submitter	tagSNP	rs545886514
Clinvar_Rec_3473	rs146778014	Benign/Likely benign	Autism spectrum disorder;not provided;not specified	RCV000715528;RCV000865167;RCV000517541	MedGen;Orphanet	C1510586;ORPHA106;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs143426579
Clinvar_Rec_3474	rs201589586	Conflicting interpretations of pathogenicity	Autism spectrum disorder;KBG syndrome;not provided	RCV000719919;RCV000810332;RCV000710567	MedGen;Orphanet;OMIM;Orphanet	C1510586;ORPHA106;MedGen;148050;ORPHA2332;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201589586
Clinvar_Rec_3475	rs863225257	Pathogenic	KBG syndrome	RCV000201845	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	no assertion criteria provided	tagSNP	rs863225257
Clinvar_Rec_3476	rs763407068	Pathogenic	KBG syndrome	RCV000417107	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	criteria provided, single submitter	tagSNP	rs763407068
Clinvar_Rec_3477	rs1555527497	Pathogenic	Inborn genetic diseases	RCV000623536	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555527497
Clinvar_Rec_3478	rs960634497	Uncertain significance	KBG syndrome	RCV000693145	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	criteria provided, single submitter	tagSNP	rs960634497
Clinvar_Rec_3479	rs1555528356	Likely pathogenic	KBG syndrome	RCV000656734	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	no assertion criteria provided	tagSNP	rs1555528356
Clinvar_Rec_3480	rs747326096	Likely benign	Autism spectrum disorder	RCV000719690	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs747326096
Clinvar_Rec_3481	rs1567574466	Pathogenic	Autism spectrum disorder	RCV000719508	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs1567574466
Clinvar_Rec_3482	rs1555529181	Pathogenic	KBG syndrome	RCV000660535	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	criteria provided, single submitter	tagSNP	rs1555529181
Clinvar_Rec_3483	rs886039734	Pathogenic/Likely pathogenic	KBG syndrome;not provided	RCV000505196;RCV000255546	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039734
Clinvar_Rec_3484	rs1567579092	Pathogenic	KBG syndrome	RCV000679908	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	criteria provided, single submitter	tagSNP	rs1567579092
Clinvar_Rec_3485	rs780814224	Likely benign	Autism spectrum disorder	RCV000717886	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs780814224
Clinvar_Rec_3486	rs1555529551	Pathogenic	KBG syndrome	RCV000677406	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332	no assertion criteria provided	tagSNP	rs1555529551
Clinvar_Rec_3487	rs863224215	Uncertain significance	Spastic Paraplegia, Recessive	RCV000389351	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs863224215
Clinvar_Rec_3488	rs147397994	Uncertain significance	Spastic Paraplegia, Recessive	RCV000381153	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs147397994
Clinvar_Rec_3489	rs113515220	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;not provided;not specified	RCV000306887;RCV000713486;RCV000128212	MedGen	CN239433;MedGen	criteria provided, conflicting interpretations	LD derived	rs61747712
Clinvar_Rec_3490	rs113515220	Uncertain significance	Spastic Paraplegia, Recessive	RCV000358365	MedGen	CN239433	criteria provided, single submitter	LD derived	rs112587045
Clinvar_Rec_3491	rs113515220	Uncertain significance	Spastic Paraplegia, Recessive	RCV000266010	MedGen	CN239433	criteria provided, single submitter	LD derived	rs113818240
Clinvar_Rec_3492	rs113515220	Uncertain significance	Spastic Paraplegia, Recessive	RCV000281694	MedGen	CN239433	criteria provided, single submitter	LD derived	rs8058041
Clinvar_Rec_3493	rs113515220	Uncertain significance	Spastic Paraplegia, Recessive	RCV000348309	MedGen	CN239433	criteria provided, single submitter	LD derived	rs8059296
Clinvar_Rec_3494	rs113515220	Uncertain significance	Spastic Paraplegia, Recessive	RCV000386476	MedGen	CN239433	criteria provided, single submitter	LD derived	rs8058221
Clinvar_Rec_3495	rs114970695	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;not specified	RCV000335399;RCV000128207	MedGen	CN239433;MedGen	criteria provided, conflicting interpretations	LD derived	rs112379588
Clinvar_Rec_3496	rs114970695	Uncertain significance	Spastic Paraplegia, Recessive	RCV000323374	MedGen	CN239433	criteria provided, single submitter	LD derived	rs111725561
Clinvar_Rec_3497	rs185077096	Uncertain significance	Hereditary spastic paraplegia 7;not provided	RCV000804015;RCV000713479	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201543030
Clinvar_Rec_3498	rs549935867	Uncertain significance	Fanconi anemia	RCV000299065	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs145886270
Clinvar_Rec_3499	rs186050933	Uncertain significance	Fanconi anemia	RCV000301856	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs186050933
Clinvar_Rec_3500	rs375657470	Likely benign	Fanconi anemia	RCV000359037	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs375657470
Clinvar_Rec_3501	rs17233833	Likely benign	Fanconi anemia	RCV000400382	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs17233833
Clinvar_Rec_3502	rs771942409	Uncertain significance	Fanconi anemia	RCV000275252	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs771942409
Clinvar_Rec_3503	rs201817705	Uncertain significance	Fanconi anemia	RCV000389634	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs201817705
Clinvar_Rec_3504	rs556325258	Uncertain significance	Fanconi anemia	RCV000397168	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs556325258
Clinvar_Rec_3505	rs1555533313	Uncertain significance	Fanconi anemia, complementation group A	RCV000669932	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs1555533313
Clinvar_Rec_3506	rs74033848	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided;not specified	RCV000299264;RCV000858640;RCV000120921	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	LD derived	rs34592408
Clinvar_Rec_3507	rs74033848	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided;not specified	RCV000385999;RCV000514654;RCV000501771	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	LD derived	rs34159559
Clinvar_Rec_3508	rs74033848	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000395504;RCV000858225;RCV000502149	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115856189
Clinvar_Rec_3509	rs74033848	Benign/Likely benign	Malignant Melanoma Susceptibility;not provided;not specified	RCV000313225;RCV000463850;RCV000252743	MedGen	C3836884;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3212365
Clinvar_Rec_3510	rs9282682	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000384746;RCV000860387;RCV000245748	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11649210
Clinvar_Rec_3511	rs9282682	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000379171;RCV000860388;RCV000250809	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1800358
Clinvar_Rec_3512	rs1555533693	Likely pathogenic	Fanconi anemia, complementation group A	RCV000671768	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs1555533693
Clinvar_Rec_3513	rs986710868	Likely pathogenic	Fanconi anemia, complementation group A	RCV000674049	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs986710868
Clinvar_Rec_3514	rs986710868	Likely pathogenic	Fanconi anemia, complementation group A	RCV000674926	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs986710868
Clinvar_Rec_3515	rs762648754	Uncertain significance	Fanconi anemia;Fanconi anemia, complementation group A	RCV000233505;RCV000665027	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227650	criteria provided, multiple submitters, no conflicts	tagSNP	rs762648754
Clinvar_Rec_3516	rs148201713	Uncertain significance	Fanconi anemia;not provided	RCV000287104;RCV000484383	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs147672303
Clinvar_Rec_3517	rs577907985	Likely benign	Malignant Melanoma Susceptibility	RCV000341817	MedGen	C3836884	criteria provided, single submitter	tagSNP	rs577907985
Clinvar_Rec_3518	rs1805006	Conflicting interpretations of pathogenicity	Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility;not provided	RCV000015380;RCV000375124;RCV000413549	MedGen;OMIM	C2751295;613099;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1805006
Clinvar_Rec_3519	rs376692024	Uncertain significance	Cutaneous malignant melanoma 5	RCV000695672	MedGen;OMIM	C2751295;613099	criteria provided, single submitter	tagSNP	rs376692024
Clinvar_Rec_3520	rs886052511	Uncertain significance	Malignant Melanoma Susceptibility	RCV000335573	MedGen	C3836884	criteria provided, single submitter	tagSNP	rs886052511
Clinvar_Rec_3521	rs576595187	Uncertain significance	Fanconi anemia, complementation group A;not provided;not specified	RCV000668295;RCV000766439;RCV000120931	MedGen;OMIM	C3469521;227650;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs370085403
Clinvar_Rec_3522	rs751174664	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000208253	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs751174664
Clinvar_Rec_3523	rs145211719	Benign/Likely benign	Cardiovascular phenotype;not specified	RCV000619438;RCV000442234	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145211719
Clinvar_Rec_3524	rs1554907730	Likely benign	Familial temporal lobe epilepsy 1	RCV000640428	MedGen;OMIM	C4551957;600512	criteria provided, single submitter	tagSNP	rs1554907730
Clinvar_Rec_3525	rs879253734	Pathogenic	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	RCV000210919	MedGen;OMIM	C4310798;616911	no assertion criteria provided	tagSNP	rs879253734
Clinvar_Rec_3526	rs3814559	Benign	Spastic paraplegia, autosomal dominant	RCV000294108	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs3814559
Clinvar_Rec_3527	rs531947687	Uncertain significance	Hermansky-Pudlak syndrome 1	RCV000758241	MedGen;OMIM	C2931875;203300	criteria provided, single submitter	tagSNP	rs531947687
Clinvar_Rec_3528	rs145963002	Uncertain significance	Mitochondrial complex IV deficiency	RCV000394009	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs145963002
Clinvar_Rec_3529	rs531854562	Conflicting interpretations of pathogenicity	Dubin-Johnson syndrome;not provided	RCV000343982;RCV000731993	MedGen;OMIM;Orphanet;SNOMED CT	C0022350;237500;ORPHA234;44553005;MedGen	criteria provided, conflicting interpretations	LD derived	rs146575217
Clinvar_Rec_3530	rs1264186261	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32	RCV000660874	MedGen;OMIM	C4748839;618252	no assertion criteria provided	tagSNP	rs1264186261
Clinvar_Rec_3531	rs113159821	Likely benign	Ataxia Neuropathy Spectrum Disorders;Autosomal recessive cerebellar ataxia;Mitochondrial DNA depletion syndrome;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	RCV000285273;RCV000263602;RCV000321122;RCV000378134	MedGen;Orphanet;Orphanet	CN239223;MedGen;ORPHA1172;MedGen;ORPHA35698;MedGen	criteria provided, single submitter	tagSNP	rs113159821
Clinvar_Rec_3532	rs111033577	Pathogenic	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;Mitochondrial diseases	RCV000004885;RCV000508905	MedGen;OMIM;Orphanet	C1836439;609286;MedGen;ORPHA68380	no assertion criteria provided	tagSNP	rs111033577
Clinvar_Rec_3533	rs80356544	Pathogenic	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);Mitochondrial DNA-depletion syndrome 3, hepatocerebral	RCV000004889;RCV000020864	MedGen;OMIM;Orphanet;OMIM	C1849096;271245;ORPHA1186;MedGen;251880	no assertion criteria provided	tagSNP	rs80356544
Clinvar_Rec_3534	rs1554887213	Pathogenic	Mitochondrial diseases	RCV000508722	MedGen;Orphanet	C0751651;ORPHA68380	no assertion criteria provided	tagSNP	rs1554887213
Clinvar_Rec_3535	rs886046646	Uncertain significance	Split-hand/foot malformation	RCV000384581	MedGen	C2699510	criteria provided, single submitter	tagSNP	rs886046646
Clinvar_Rec_3536	rs746813506	Uncertain significance	Hermansky-Pudlak syndrome	RCV000280595	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs746813506
Clinvar_Rec_3537	rs139517839	Uncertain significance	Hermansky-Pudlak syndrome	RCV000329386	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs139517839
Clinvar_Rec_3538	rs281865113	Pathogenic	Hermansky-Pudlak syndrome 6	RCV000003301	MedGen;OMIM	C3888007;614075	no assertion criteria provided	tagSNP	rs281865113
Clinvar_Rec_3539	rs727502787	Pathogenic	Common variable immunodeficiency 10	RCV000150032	MedGen;OMIM;Orphanet	C3809991;615577;ORPHA293978	no assertion criteria provided	tagSNP	rs727502787
Clinvar_Rec_3540	rs765358771	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000567793;RCV000462118	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs765358771
Clinvar_Rec_3541	rs1060499582	Pathogenic	Deficiency of steroid 17-alpha-monooxygenase	RCV000477958	MedGen;OMIM;Orphanet;SNOMED CT	C0268285;202110;ORPHA90793;124220008	no assertion criteria provided	tagSNP	rs1060499582
Clinvar_Rec_3542	rs886046675	Uncertain significance	Renal Hypomagnesemia, Dominant	RCV000285236	MedGen	CN239436	criteria provided, single submitter	tagSNP	rs886046675
Clinvar_Rec_3543	rs886046676	Uncertain significance	Renal Hypomagnesemia, Dominant	RCV000392463	MedGen	CN239436	criteria provided, single submitter	tagSNP	rs886046676
Clinvar_Rec_3544	rs145537350	Likely benign	Renal Hypomagnesemia, Dominant	RCV000369804	MedGen	CN239436	criteria provided, single submitter	tagSNP	rs145537350
Clinvar_Rec_3545	rs886054211	Uncertain significance	Peutz-Jeghers syndrome	RCV000316627	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs886054211
Clinvar_Rec_3546	rs532196225	Likely benign	Peutz-Jeghers syndrome	RCV000331333	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs532196225
Clinvar_Rec_3547	rs886054215	Uncertain significance	Peutz-Jeghers syndrome	RCV000407402	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs886054215
Clinvar_Rec_3548	rs786201498	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000163753;RCV000538130;RCV000590092	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201498
Clinvar_Rec_3549	rs1555734875	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581026	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555734875
Clinvar_Rec_3550	rs757411357	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217440	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs757411357
Clinvar_Rec_3551	rs863224363	Likely benign	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000217999;RCV000197439	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224363
Clinvar_Rec_3552	rs863224363	Uncertain significance	Peutz-Jeghers syndrome	RCV000231274	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs863224363
Clinvar_Rec_3553	rs786201782	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164249	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201782
Clinvar_Rec_3554	rs786201782	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164824	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201782
Clinvar_Rec_3555	rs587781437	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000129339;RCV000467257	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781437
Clinvar_Rec_3556	rs1131690916	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000492248	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690916
Clinvar_Rec_3557	rs1555734984	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582919	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555734984
Clinvar_Rec_3558	rs1555734984	Uncertain significance	Peutz-Jeghers syndrome	RCV000692857	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1555734984
Clinvar_Rec_3559	rs876660426	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213337	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660426
Clinvar_Rec_3560	rs1406974389	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580871	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1406974389
Clinvar_Rec_3561	rs780749732	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided	RCV000563750;RCV000206610;RCV000760081	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780749732
Clinvar_Rec_3562	rs780749732	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000563516;RCV000760080;RCV000444526	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780749732
Clinvar_Rec_3563	rs876658393	Uncertain significance	Peutz-Jeghers syndrome	RCV000705710	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs876658393
Clinvar_Rec_3564	rs876658393	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000221263;RCV000526263;RCV000604527	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658393
Clinvar_Rec_3565	rs878853247	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000492258	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs878853247
Clinvar_Rec_3566	rs878853247	Likely pathogenic	Peutz-Jeghers syndrome	RCV000225068	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	no assertion criteria provided	tagSNP	rs878853247
Clinvar_Rec_3567	rs730881963	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000160977;RCV000204976;RCV000679324;RCV000213019	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881963
Clinvar_Rec_3568	rs1568709259	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV001027028;RCV000689117	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1568709259
Clinvar_Rec_3569	rs1060499952	Uncertain significance	Peutz-Jeghers syndrome	RCV000458631	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1060499952
Clinvar_Rec_3570	rs786201739	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000164181;RCV000524609	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201739
Clinvar_Rec_3571	rs730881987	Uncertain significance	Peutz-Jeghers syndrome;not provided	RCV000226358;RCV000161010	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881987
Clinvar_Rec_3572	rs1555739204	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564037	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555739204
Clinvar_Rec_3573	rs864622638	Uncertain significance	Peutz-Jeghers syndrome	RCV000204325	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622638
Clinvar_Rec_3574	rs768217700	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000163584;RCV000206154	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768217700
Clinvar_Rec_3575	rs1321578734	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774868	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1321578734
Clinvar_Rec_3576	rs1555739334	Uncertain significance	Peutz-Jeghers syndrome	RCV000632830	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1555739334
Clinvar_Rec_3577	rs765419233	Uncertain significance	Peutz-Jeghers syndrome	RCV000459961	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs765419233
Clinvar_Rec_3578	rs765419233	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided	RCV000163414;RCV000811562;RCV000587411	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765419233
Clinvar_Rec_3579	rs1555740089	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564746	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555740089
Clinvar_Rec_3580	rs1555740090	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561835	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555740090
Clinvar_Rec_3581	rs985937027	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV001017452;RCV000632802	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs985937027
Clinvar_Rec_3582	rs533893690	Uncertain significance	Peutz-Jeghers syndrome	RCV000327498	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	LD derived	rs532639857
Clinvar_Rec_3583	rs550498311	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000566538;RCV000816859	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	LD derived	rs185087320
Clinvar_Rec_3584	rs550498311	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000163543;RCV000204629	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	LD derived	rs185087320
Clinvar_Rec_3585	rs1401966018	Uncertain significance	Cerebral creatine deficiency syndrome	RCV000655357	MedGen;Orphanet	CN227588;ORPHA79172	criteria provided, single submitter	tagSNP	rs1401966018
Clinvar_Rec_3586	rs547292236	Conflicting interpretations of pathogenicity	Peutz-Jeghers syndrome	RCV000272449	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, conflicting interpretations	LD derived	rs552610464
Clinvar_Rec_3587	rs1568203965	Uncertain significance	Epilepsy, progressive myoclonic, 9;Lipodystrophy, partial, acquired, susceptibility to	RCV000692704;RCV000692704	MedGen;OMIM;Orphanet	C4225289;616540;ORPHA457265;MedGen	criteria provided, single submitter	tagSNP	rs1568203965
Clinvar_Rec_3588	rs140749796	Pathogenic	Hypocalcemia, autosomal dominant 2	RCV000054477	MedGen;OMIM	C3809243;615361	no assertion criteria provided	tagSNP	rs140749796
Clinvar_Rec_3589	rs879255248	Pathogenic	CODAS syndrome	RCV000157622	MedGen;OMIM;Orphanet	C1838180;600373;ORPHA1458	no assertion criteria provided	tagSNP	rs879255248
Clinvar_Rec_3590	rs201911802	Conflicting interpretations of pathogenicity	Mitochondrial complex I deficiency;Mitochondrial complex I deficiency, nuclear type 1;not provided	RCV000267674;RCV000765475;RCV000197389	MedGen;OMIM	C2936907;MedGen;252010;MedGen	criteria provided, conflicting interpretations	LD derived	rs199842745
Clinvar_Rec_3591	rs144672500	Uncertain significance	Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration	RCV000270342;RCV000362131;RCV000323045	MedGen;Orphanet;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;ORPHA280133;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs144672500
Clinvar_Rec_3592	rs1568229677	Pathogenic	Complement component 3 deficiency, autosomal recessive	RCV000735715	MedGen;OMIM;Orphanet	C3151071;613779;ORPHA280133	no assertion criteria provided	tagSNP	rs1568229677
Clinvar_Rec_3593	rs339394	Likely benign	Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration	RCV000298479;RCV000263307;RCV000353431	MedGen;Orphanet;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;ORPHA280133;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs339394
Clinvar_Rec_3594	rs148930499	Benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000268543;RCV000323570;RCV000378338	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs148930499
Clinvar_Rec_3595	rs111557734	Likely benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000277258;RCV000326486;RCV000380991	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs111557734
Clinvar_Rec_3596	rs3833238	Benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000292651;RCV000332408;RCV000386880	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs3833238
Clinvar_Rec_3597	rs142596192	Likely benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000278542;RCV000338332;RCV000374310	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs142596192
Clinvar_Rec_3598	rs564677377	Likely benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000305460;RCV000335932;RCV000402750	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs564677377
Clinvar_Rec_3599	rs116422284	Likely benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans;Leprechaunism syndrome;Pineal hyperplasia AND diabetes mellitus syndrome	RCV000329815;RCV000277159;RCV000369375	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0342278;610549;ORPHA2297;9859006;MedGen;246200;ORPHA508;111307005;MedGen;262190;ORPHA769;33559001	criteria provided, single submitter	tagSNP	rs116422284
Clinvar_Rec_3600	rs121913152	Pathogenic	Leprechaunism syndrome	RCV000015817	MedGen;OMIM;Orphanet;SNOMED CT	C0265344;246200;ORPHA508;111307005	no assertion criteria provided	tagSNP	rs121913152
Clinvar_Rec_3601	rs202170153	Conflicting interpretations of pathogenicity	Familial hemophagocytic lymphohistiocytosis;not provided;not specified	RCV000375641;RCV000560102;RCV000248506	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003;MedGen	criteria provided, conflicting interpretations	LD derived	rs34450592
Clinvar_Rec_3602	rs886054126	Uncertain significance	Dementia, Deafness, and Sensory Neuropathy	RCV000322121	MedGen	CN239189	criteria provided, single submitter	tagSNP	rs886054126
Clinvar_Rec_3603	rs147118268	Uncertain significance	Dementia, Deafness, and Sensory Neuropathy	RCV000344075	MedGen	CN239189	criteria provided, single submitter	tagSNP	rs147118268
Clinvar_Rec_3604	rs758806907	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000685739	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs758806907
Clinvar_Rec_3605	rs201924117	Conflicting interpretations of pathogenicity	Beckwith-Wiedemann syndrome;Dementia, Deafness, and Sensory Neuropathy;Hereditary sensory neuropathy type IE;not provided;not specified	RCV000625705;RCV000354106;RCV000549690;RCV000996738;RCV000221683	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0004903;130650;ORPHA116;81780002;MedGen;614116;ORPHA456318;MedGen	criteria provided, conflicting interpretations	LD derived	rs138841970
Clinvar_Rec_3606	rs201924117	Conflicting interpretations of pathogenicity	Dementia, Deafness, and Sensory Neuropathy;not provided;not specified	RCV000266358;RCV000556631;RCV000420016	MedGen	CN239189;MedGen	criteria provided, conflicting interpretations	LD derived	rs143904813
Clinvar_Rec_3607	rs201308454	Benign/Likely benign	Dementia, Deafness, and Sensory Neuropathy;not provided;not specified	RCV000305233;RCV000874428;RCV000732184	MedGen	CN239189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201308454
Clinvar_Rec_3608	rs1057518774	Uncertain significance	Acanthocytosis;Cerebellar ataxia;Cerebellar atrophy;Cerebral atrophy;Chorea;Dysarthria;Dysphagia	RCV000415217;RCV000415217;RCV000415217;RCV000415217;RCV000415217;RCV000415217;RCV000415217	Human Phenotype Ontology;MedGen;Orphanet;MedGen;SNOMED CT;MedGen;MedGen;MedGen;Orphanet;MedGen;MedGen	HP;C0687751;ORPHA98366;Human Phenotype Ontology;C0007758;85102008;Human Phenotype Ontology;C0740279;Human Phenotype Ontology;C0235946;Human Phenotype Ontology;C0008489;ORPHA306715;Human Phenotype Ontology;C0013362;Human Phenotype Ontology;C0011168	criteria provided, single submitter	tagSNP	rs1057518774
Clinvar_Rec_3609	rs1568232526	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000706160	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs1568232526
Clinvar_Rec_3610	rs721186	Benign	Dementia, Deafness, and Sensory Neuropathy;not specified	RCV000306290;RCV000247150	MedGen	CN239189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs721186
Clinvar_Rec_3611	rs779634956	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000686192	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs779634956
Clinvar_Rec_3612	rs886054129	Uncertain significance	Dementia, Deafness, and Sensory Neuropathy	RCV000312581	MedGen	CN239189	criteria provided, single submitter	tagSNP	rs886054129
Clinvar_Rec_3613	rs199780600	Likely benign	Charcot-Marie-Tooth disease, dominant intermediate B	RCV000641113	MedGen;OMIM;Orphanet	C1847902;606482;ORPHA100044	criteria provided, single submitter	LD derived	rs534605878
Clinvar_Rec_3614	rs12720335	Uncertain significance	Familial Atypical Mycobacteriosis, Autosomal Recessive	RCV000349065	MedGen	CN239257	criteria provided, single submitter	tagSNP	rs12720335
Clinvar_Rec_3615	rs886054136	Uncertain significance	Familial Atypical Mycobacteriosis, Autosomal Recessive	RCV000311672	MedGen	CN239257	criteria provided, single submitter	tagSNP	rs886054136
Clinvar_Rec_3616	rs397514735	Pathogenic	Lethal congenital contracture syndrome 5	RCV000054501	MedGen;OMIM;Orphanet	C3809272;615368;ORPHA363409	no assertion criteria provided	tagSNP	rs397514735
Clinvar_Rec_3617	rs766613900	Uncertain significance	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate;not provided	RCV000277608;RCV000367131;RCV000236613	MedGen	CN239281;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766613900
Clinvar_Rec_3618	rs141944110	Conflicting interpretations of pathogenicity	Peripheral neuropathy;not provided;not specified	RCV000145912;RCV000199355;RCV000120647	Human Phenotype Ontology;MedGen;Orphanet	HP;C0031117;ORPHA98496;MedGen	criteria provided, conflicting interpretations	LD derived	rs144250390
Clinvar_Rec_3619	rs540304761	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000576137;RCV000646816	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	LD derived	rs566531015
Clinvar_Rec_3620	rs1057520203	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;not provided	RCV000563879;RCV000457665;RCV000438092	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520203
Clinvar_Rec_3621	rs150949949	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;bilateral breast cancer	RCV000571456;RCV000227247;RCV001005023	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150949949
Clinvar_Rec_3622	rs199573401	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000563682;RCV000471189	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs199573401
Clinvar_Rec_3623	rs1555755082	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000569564;RCV000810630	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555755082
Clinvar_Rec_3624	rs1013942482	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000547031	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1013942482
Clinvar_Rec_3625	rs1013942482	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000572818;RCV001057672	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1013942482
Clinvar_Rec_3626	rs369362739	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000572533;RCV000472501	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369362739
Clinvar_Rec_3627	rs761791338	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562110;RCV000557312	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761791338
Clinvar_Rec_3628	rs771723542	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000572850;RCV000696598	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs771723542
Clinvar_Rec_3629	rs878854217	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575320;RCV000233288	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854217
Clinvar_Rec_3630	rs1269190894	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021810;RCV000646954	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1269190894
Clinvar_Rec_3631	rs772075876	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021872;RCV000459344	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772075876
Clinvar_Rec_3632	rs772075876	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000692621	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs772075876
Clinvar_Rec_3633	rs1555788051	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000533018	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555788051
Clinvar_Rec_3634	rs373390083	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV001022330;RCV000550904	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs373390083
Clinvar_Rec_3635	rs1568528504	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000705681	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1568528504
Clinvar_Rec_3636	rs530717926	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573087	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs530717926
Clinvar_Rec_3637	rs1555788376	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565305	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555788376
Clinvar_Rec_3638	rs1555788376	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000701784	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555788376
Clinvar_Rec_3639	rs797045987	Pathogenic	Rhabdoid tumor predisposition syndrome 2	RCV000194866	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs797045987
Clinvar_Rec_3640	rs1356932636	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000706767	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1356932636
Clinvar_Rec_3641	rs1356932636	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000689434	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1356932636
Clinvar_Rec_3642	rs568650875	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574590;RCV000468578	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs568650875
Clinvar_Rec_3643	rs7275	Benign	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000287003;RCV000572432;RCV000114308	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7275
Clinvar_Rec_3644	rs918621161	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562342	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs918621161
Clinvar_Rec_3645	rs1568566518	Uncertain significance	Coffin-Siris syndrome 1	RCV000761560	MedGen;OMIM	C3281201;135900	criteria provided, single submitter	tagSNP	rs1568566518
Clinvar_Rec_3646	rs1555797441	Likely benign	Rhabdoid tumor predisposition syndrome 2	RCV000544587	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555797441
Clinvar_Rec_3647	rs879254497	Pathogenic	Familial hypercholesterolemia 1	RCV000237285	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254497
Clinvar_Rec_3648	rs879254501	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237938	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254501
Clinvar_Rec_3649	rs879254502	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000417250	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254502
Clinvar_Rec_3650	rs879254502	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238479	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254502
Clinvar_Rec_3651	rs879254504	Pathogenic	Familial hypercholesterolemia 1	RCV000237954	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254504
Clinvar_Rec_3652	rs879254507	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238195	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254507
Clinvar_Rec_3653	rs879254511	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237668	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254511
Clinvar_Rec_3654	rs1317204420	Uncertain significance	Familial hypercholesterolemia 1	RCV000700653	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1317204420
Clinvar_Rec_3655	rs875989900	Pathogenic	Familial hypercholesterolemia 1	RCV000508913	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs875989900
Clinvar_Rec_3656	rs875989900	Pathogenic/Likely pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Homozygous familial hypercholesterolemia;not provided	RCV000775036;RCV000211566;RCV000844756;RCV000494460	MedGen;SNOMED CT;OMIM;SNOMED CT;Orphanet	C0020445;398036000;MedGen;143890;397915002;MedGen;ORPHA391665;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989900
Clinvar_Rec_3657	rs879254662	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238553	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254662
Clinvar_Rec_3658	rs730882088	Likely benign	Familial hypercholesterolemia 1	RCV000237704	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs730882088
Clinvar_Rec_3659	rs147905921	Benign/Likely benign	Familial hypercholesterolemia;not provided	RCV000771246;RCV000840250	MedGen;SNOMED CT	C0020445;398036000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147905921
Clinvar_Rec_3660	rs878854024	Uncertain significance	Familial hypercholesterolemia 1	RCV000233954	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs878854024
Clinvar_Rec_3661	rs879254792	Pathogenic/Likely pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000824031;RCV000237770	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254792
Clinvar_Rec_3662	rs879254793	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238320	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254793
Clinvar_Rec_3663	rs142319510	Uncertain significance	Familial hypercholesterolemia 1	RCV000497141	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs142319510
Clinvar_Rec_3664	rs879254869	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237387	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254869
Clinvar_Rec_3665	rs879254870	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237999	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254870
Clinvar_Rec_3666	rs879254892	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1;not provided	RCV000238471;RCV000657895	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254892
Clinvar_Rec_3667	rs730882102	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Homozygous familial hypercholesterolemia;not provided	RCV000775068;RCV000237883;RCV000844749;RCV000161988	MedGen;SNOMED CT;OMIM;SNOMED CT;Orphanet	C0020445;398036000;MedGen;143890;397915002;MedGen;ORPHA391665;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730882102
Clinvar_Rec_3668	rs879254894	Benign/Likely benign	Familial hypercholesterolemia 1	RCV000237941	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254894
Clinvar_Rec_3669	rs879254917	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238379	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254917
Clinvar_Rec_3670	rs145252288	Benign	Familial hypercholesterolemia 1	RCV000508955	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs145252288
Clinvar_Rec_3671	rs879254922	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000238151	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254922
Clinvar_Rec_3672	rs759139712	Likely benign	Familial hypercholesterolemia 1	RCV000237188	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs759139712
Clinvar_Rec_3673	rs879255001	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237784	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255001
Clinvar_Rec_3674	rs879255002	Uncertain significance	Familial hypercholesterolemia 1	RCV000238291	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255002
Clinvar_Rec_3675	rs875989929	Likely pathogenic	Familial hypercholesterolemia 1	RCV000211648	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989929
Clinvar_Rec_3676	rs875989929	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1;Homozygous familial hypercholesterolemia	RCV000237346;RCV000825595	MedGen;OMIM;SNOMED CT;Orphanet	C0745103;143890;397915002;MedGen;ORPHA391665	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989929
Clinvar_Rec_3677	rs879255005	Pathogenic	Familial hypercholesterolemia 1	RCV000238429	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255005
Clinvar_Rec_3678	rs879255003	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238440	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255003
Clinvar_Rec_3679	rs879255003	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237520	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255003
Clinvar_Rec_3680	rs879255004	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237863	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255004
Clinvar_Rec_3681	rs1555806428	Pathogenic	Familial hypercholesterolemia 1	RCV000508854	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555806428
Clinvar_Rec_3682	rs1131692216	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000495897	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs1131692216
Clinvar_Rec_3683	rs1131692216	Uncertain significance	Familial hypercholesterolemia 1	RCV000660718	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1131692216
Clinvar_Rec_3684	rs879255131	Pathogenic	Familial hypercholesterolemia 1	RCV000237477	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255131
Clinvar_Rec_3685	rs551528700	Likely pathogenic	Familial hypercholesterolemia 1	RCV000495908	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs551528700
Clinvar_Rec_3686	rs879255132	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238052	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255132
Clinvar_Rec_3687	rs879255142	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238203	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255142
Clinvar_Rec_3688	rs879255142	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000238580	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs879255142
Clinvar_Rec_3689	rs879255143	Likely pathogenic	Familial hypercholesterolemia 1;not provided	RCV000237572;RCV000521276	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255143
Clinvar_Rec_3690	rs879255154	Likely benign	Familial hypercholesterolemia 1	RCV000238120	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255154
Clinvar_Rec_3691	rs879255215	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237741	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255215
Clinvar_Rec_3692	rs879255220	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1;not specified	RCV000237637;RCV000456063	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs879255220
Clinvar_Rec_3693	rs146008484	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1;not specified	RCV000497142;RCV000615749	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146008484
Clinvar_Rec_3694	rs878854029	Uncertain significance	Familial hypercholesterolemia 1	RCV000233418	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs878854029
Clinvar_Rec_3695	rs1135402786	Uncertain significance	Familial hypercholesterolemia 1	RCV000497246	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1135402786
Clinvar_Rec_3696	rs775803775	Uncertain significance	Familial hypercholesterolemia	RCV000772774	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs775803775
Clinvar_Rec_3697	rs746014399	Uncertain significance	Familial hypercholesterolemia 1	RCV000355666	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs746014399
Clinvar_Rec_3698	rs562862170	Uncertain significance	Familial hypercholesterolemia 1	RCV000283051	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs562862170
Clinvar_Rec_3699	rs886054168	Uncertain significance	Familial hypercholesterolemia 1	RCV000300637	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054168
Clinvar_Rec_3700	rs886054181	Uncertain significance	Familial hypercholesterolemia 1	RCV000385826	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054181
Clinvar_Rec_3701	rs886054190	Uncertain significance	Familial hypercholesterolemia 1	RCV000273357	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054190
Clinvar_Rec_3702	rs138190746	Likely benign	Familial erythrocytosis	RCV000276763	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs138190746
Clinvar_Rec_3703	rs35423344	Benign	Familial erythrocytosis	RCV000275498	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs35423344
Clinvar_Rec_3704	rs139969239	Likely benign	Polycystic liver disease 1	RCV000389862	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	tagSNP	rs139969239
Clinvar_Rec_3705	rs530493526	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238009	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	LD derived	rs563382937
Clinvar_Rec_3706	rs556300049	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001019594;RCV000540769	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs536795031
Clinvar_Rec_3707	rs377052541	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1;Hypercholesterolaemia;not provided	RCV000172958;RCV000148562;RCV000162019	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, conflicting interpretations	LD derived	rs150673992
Clinvar_Rec_3708	rs562111709	Likely pathogenic	Deficiency of alpha-mannosidase	RCV000411831	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	LD derived	rs561991886
Clinvar_Rec_3709	rs199822158	Uncertain significance	Aicardi Goutieres syndrome	RCV000399806	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006	criteria provided, single submitter	tagSNP	rs199822158
Clinvar_Rec_3710	rs387907253	Pathogenic	Marshall-Smith syndrome;Sotos syndrome 2	RCV000990161;RCV000030636	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0265211;602535;ORPHA561;73284007;MedGen;614753;ORPHA420179	criteria provided, single submitter	tagSNP	rs387907253
Clinvar_Rec_3711	rs148239437	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716665;RCV000232480;RCV000367692	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148239437
Clinvar_Rec_3712	rs312262889	Pathogenic	Orofaciodigital syndrome I	RCV000033990	MedGen;OMIM;Orphanet	C1510460;311200;ORPHA2750	no assertion criteria provided	tagSNP	rs312262889
Clinvar_Rec_3713	rs187611308	Likely benign	Fanconi Anemia, X-Linked;VACTERL association with hydrocephalus	RCV000397201;RCV000351888	MedGen;OMIM;Orphanet	CN239166;MedGen;276950;ORPHA3412	criteria provided, single submitter	tagSNP	rs187611308
Clinvar_Rec_3714	rs148257882	Likely benign	Fanconi Anemia, X-Linked;VACTERL association with hydrocephalus	RCV000266661;RCV000358820	MedGen;OMIM;Orphanet	CN239166;MedGen;276950;ORPHA3412	criteria provided, single submitter	tagSNP	rs148257882
Clinvar_Rec_3715	rs1060501875	Uncertain significance	Fanconi anemia	RCV000476157	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501875
Clinvar_Rec_3716	rs151173533	Benign/Likely benign	Fanconi Anemia, X-Linked;VACTERL association with hydrocephalus;not provided	RCV000309558;RCV000398187;RCV000762608	MedGen;OMIM;Orphanet	CN239166;MedGen;276950;ORPHA3412;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs151173533
Clinvar_Rec_3717	rs754214624	Likely pathogenic	Deficiency of butyrylcholine esterase	RCV000411348	MedGen;OMIM;Orphanet;SNOMED CT	C1283400;617936;ORPHA132;360589003	criteria provided, single submitter	tagSNP	rs754214624
Clinvar_Rec_3718	rs1553778185	Likely pathogenic	Deficiency of butyrylcholine esterase	RCV000664937	MedGen;OMIM;Orphanet;SNOMED CT	C1283400;617936;ORPHA132;360589003	criteria provided, single submitter	tagSNP	rs1553778185
Clinvar_Rec_3719	rs774072493	Uncertain significance	Deficiency of butyrylcholine esterase	RCV000316818	MedGen;OMIM;Orphanet;SNOMED CT	C1283400;617936;ORPHA132;360589003	criteria provided, single submitter	tagSNP	rs774072493
Clinvar_Rec_3720	rs193920870	Uncertain significance	Malignant tumor of prostate	RCV000149067	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920870
Clinvar_Rec_3721	rs201705993	Uncertain significance	Cowden syndrome	RCV000560641	MedGen;Orphanet;SNOMED CT	C0018553;ORPHA201;58037000	criteria provided, single submitter	tagSNP	rs201705993
Clinvar_Rec_3722	rs397517202	Pathogenic	Non-small cell lung cancer	RCV000038673	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;D002289;C0007131;254637007	criteria provided, single submitter	tagSNP	rs397517202
Clinvar_Rec_3723	rs1553826166	Likely pathogenic	Endometrial carcinoma	RCV000587402	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0476089;608089;254878006	no assertion criteria provided	tagSNP	rs1553826166
Clinvar_Rec_3724	rs886054864	Uncertain significance	Congenital lactase deficiency;Lactose intolerance	RCV000285773;RCV000343179	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0268179;223000;ORPHA53690;5388008;Human Phenotype Ontology;C0022951	criteria provided, single submitter	tagSNP	rs886054864
Clinvar_Rec_3725	rs794727922	Uncertain significance	Mowat-Wilson syndrome;not provided	RCV000642259;RCV000180320	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727922
Clinvar_Rec_3726	rs1560606101	Uncertain significance	Mowat-Wilson syndrome	RCV000689970	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs1560606101
Clinvar_Rec_3727	rs759097498	Uncertain significance	Mowat-Wilson syndrome	RCV000697474	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs759097498
Clinvar_Rec_3728	rs1553961558	Uncertain significance	Mowat-Wilson syndrome	RCV000642251	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs1553961558
Clinvar_Rec_3729	rs867243713	Uncertain significance	Mowat-Wilson syndrome;not provided	RCV001040875;RCV000260081	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs867243713
Clinvar_Rec_3730	rs144154908	Benign/Likely benign	History of neurodevelopmental disorder;Mowat-Wilson syndrome;not provided;not specified	RCV000715874;RCV000349126;RCV000858078;RCV000194397	MedGen;OMIM;Orphanet	C2711754;MedGen;235730;ORPHA2152;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144154908
Clinvar_Rec_3731	rs144154908	Likely benign	Mowat-Wilson syndrome	RCV000360505	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	LD derived	rs528546849
Clinvar_Rec_3732	rs587776611	Pathogenic	Mowat-Wilson syndrome	RCV000005032	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	no assertion criteria provided	tagSNP	rs587776611
Clinvar_Rec_3733	rs137852980	Pathogenic	Mowat-Wilson syndrome	RCV000005020	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	no assertion criteria provided	tagSNP	rs137852980
Clinvar_Rec_3734	rs34890427	Uncertain significance	Mowat-Wilson syndrome	RCV000307691	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs34890427
Clinvar_Rec_3735	rs34890427	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716509;RCV000147990;RCV000081654	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34890427
Clinvar_Rec_3736	rs587776603	Pathogenic	Mowat-Wilson syndrome	RCV000005022	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	no assertion criteria provided	tagSNP	rs587776603
Clinvar_Rec_3737	rs886054897	Uncertain significance	Mowat-Wilson syndrome	RCV000301724	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs886054897
Clinvar_Rec_3738	rs897172	Benign	Meier-Gorlin syndrome 2;not specified	RCV000986824;RCV000146999	MedGen;OMIM	C3151097;613800;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2307394
Clinvar_Rec_3739	rs368339420	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Mental retardation, autosomal dominant 1;not specified	RCV000718133;RCV000694397;RCV000188074	MedGen;OMIM	C2711754;MedGen;156200;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368339420
Clinvar_Rec_3740	rs146031838	Uncertain significance	Mental retardation, autosomal dominant 1;not specified	RCV000645267;RCV000188076	MedGen;OMIM	C1969562;156200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146031838
Clinvar_Rec_3741	rs1559086500	Uncertain significance	Mental retardation, autosomal dominant 1	RCV000678973	MedGen;OMIM	C1969562;156200	criteria provided, single submitter	tagSNP	rs1559086500
Clinvar_Rec_3742	rs727503998	Uncertain significance	Mental retardation, autosomal dominant 1;not provided	RCV000705010;RCV000153456	MedGen;OMIM	C1969562;156200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503998
Clinvar_Rec_3743	rs780715275	Uncertain significance	Mental retardation, autosomal dominant 1	RCV000705551	MedGen;OMIM	C1969562;156200	criteria provided, single submitter	tagSNP	rs780715275
Clinvar_Rec_3744	rs114314967	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Dominant;not provided;not specified	RCV000715055;RCV000260670;RCV000461555;RCV000186637	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114314967
Clinvar_Rec_3745	rs147455836	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000715897;RCV000513420;RCV000441893	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147455836
Clinvar_Rec_3746	rs1060501153	Pathogenic	Mental retardation, autosomal dominant 1	RCV000459819	MedGen;OMIM	C1969562;156200	criteria provided, single submitter	tagSNP	rs1060501153
Clinvar_Rec_3747	rs886054910	Uncertain significance	Intellectual Disability, Dominant	RCV000292604	MedGen	CN239282	criteria provided, single submitter	tagSNP	rs886054910
Clinvar_Rec_3748	rs200151142	Conflicting interpretations of pathogenicity	Mental retardation, autosomal dominant 1;not specified	RCV000474689;RCV000153457	MedGen;OMIM	C1969562;156200;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200151142
Clinvar_Rec_3749	rs1553520621	Uncertain significance	Mental retardation, autosomal dominant 1	RCV000645276	MedGen;OMIM	C1969562;156200	criteria provided, single submitter	tagSNP	rs1553520621
Clinvar_Rec_3750	rs147318949	Conflicting interpretations of pathogenicity	Disorders of Intracellular Cobalamin Metabolism;Methylmalonic acidemia;not provided	RCV000320341;RCV000284031;RCV000907095	MedGen;MeSH;MedGen;SNOMED CT	CN043592;Human Phenotype Ontology;C537358;C0268583;42393006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147318949
Clinvar_Rec_3751	rs199472995	Pathogenic/Likely pathogenic	Congenital long QT syndrome;Long QT syndrome 2;not provided	RCV000058106;RCV000208316;RCV000182045	MedGen;Orphanet;SNOMED CT;OMIM	C1141890;ORPHA768;442917000;MedGen;613688;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199472995
Clinvar_Rec_3752	rs199472993	not provided	Congenital long QT syndrome	RCV000058104	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472993
Clinvar_Rec_3753	rs199472940	Uncertain significance	Long QT syndrome	RCV000534743	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs199472940
Clinvar_Rec_3754	rs199472940	not provided	Congenital long QT syndrome	RCV000058005	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472940
Clinvar_Rec_3755	rs199472941	Pathogenic	Congenital long QT syndrome;Long QT syndrome;not provided	RCV000058002;RCV000526585;RCV000413200	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	C1141890;ORPHA768;442917000;MeSH;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199472941
Clinvar_Rec_3756	rs199472941	not provided	Congenital long QT syndrome	RCV000058003	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472941
Clinvar_Rec_3757	rs199472941	not provided	Congenital long QT syndrome	RCV000058004	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472941
Clinvar_Rec_3758	rs199472933	Pathogenic	Congenital long QT syndrome;not provided	RCV000057990;RCV000181819	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000;MedGen	criteria provided, single submitter	tagSNP	rs199472933
Clinvar_Rec_3759	rs199472933	not provided	Congenital long QT syndrome	RCV000057991	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472933
Clinvar_Rec_3760	rs199472933	not provided	Congenital long QT syndrome	RCV000057992	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472933
Clinvar_Rec_3761	rs863225288	Pathogenic	Long QT syndrome 2	RCV000202321	MedGen;OMIM	C3150943;613688	criteria provided, single submitter	tagSNP	rs863225288
Clinvar_Rec_3762	rs199473521	not provided	Congenital long QT syndrome	RCV000057989	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473521
Clinvar_Rec_3763	rs371543989	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Glycogen storage disease of heart, lethal congenital;not specified	RCV000619783;RCV000804163;RCV000420021	MedGen;OMIM;Orphanet	CN230736;MedGen;261740;ORPHA439854;MedGen	criteria provided, conflicting interpretations	tagSNP	rs371543989
Clinvar_Rec_3764	rs534059998	Uncertain significance	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Glycogen storage disease of heart, lethal congenital;Wolff-Parkinson-White syndrome	RCV000274612;RCV000369540;RCV000329659	MedGen;OMIM;Orphanet;MedGen	CN239247;MedGen;261740;ORPHA439854;Human Phenotype Ontology;C1963282	criteria provided, single submitter	tagSNP	rs534059998
Clinvar_Rec_3765	rs886062106	Uncertain significance	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Glycogen storage disease of heart, lethal congenital;Wolff-Parkinson-White syndrome	RCV000325840;RCV000361896;RCV000270721	MedGen;OMIM;Orphanet;MedGen	CN239247;MedGen;261740;ORPHA439854;Human Phenotype Ontology;C1963282	criteria provided, single submitter	tagSNP	rs886062106
Clinvar_Rec_3766	rs191408875	Uncertain significance	Glycogen storage disease of heart, lethal congenital;not provided	RCV000693052;RCV000586981	MedGen;OMIM;Orphanet	C1849813;261740;ORPHA439854;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs182084936
Clinvar_Rec_3767	rs1064795954	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not provided	RCV001030743;RCV000479614	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064795954
Clinvar_Rec_3768	rs765021741	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000567327;RCV001066340	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765021741
Clinvar_Rec_3769	rs765796648	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001023873;RCV000909133;RCV000439836	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765796648
Clinvar_Rec_3770	rs753169131	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001023852;RCV000487057	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753169131
Clinvar_Rec_3771	rs778143946	Uncertain significance	Hereditary Cancer Syndrome;not provided	RCV000709057;RCV000457170	MedGen	CN882908;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs778143946
Clinvar_Rec_3772	rs149929851	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000563922;RCV000877091	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149929851
Clinvar_Rec_3773	rs763401560	Conflicting interpretations of pathogenicity	Fanconi anemia, complementation group U;Hereditary Cancer Syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000988017;RCV000709058;RCV001021119;RCV000481611	MedGen;OMIM;Orphanet;SNOMED CT	C4310651;617247;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763401560
Clinvar_Rec_3774	rs730882041	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001013342;RCV000161104	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730882041
Clinvar_Rec_3775	rs771023322	Uncertain significance	Triphalangeal thumb polysyndactyly syndrome	RCV000310844	MedGen;Orphanet	C1969369;ORPHA2950	criteria provided, single submitter	tagSNP	rs771023322
Clinvar_Rec_3776	rs1554458350	Uncertain significance	Limb-girdle muscular dystrophy, type 1E	RCV000559294	MedGen;OMIM	C4721885;603511	criteria provided, single submitter	tagSNP	rs1554458350
Clinvar_Rec_3777	rs869320702	Pathogenic	Limb-girdle muscular dystrophy, type 1E	RCV000210843	MedGen;OMIM	C4721885;603511	no assertion criteria provided	tagSNP	rs869320702
Clinvar_Rec_3778	rs570569711	Uncertain significance	Limb-Girdle Muscular Dystrophy, Dominant;Myofibrillar Myopathy, Dominant	RCV000346997;RCV000404955	MedGen	CN239426;MedGen	criteria provided, single submitter	tagSNP	rs570569711
Clinvar_Rec_3779	rs1563515856	Pathogenic	KHAN-KHAN-KATSANIS SYNDROME	RCV000782271	MedGen;OMIM	CN258822;618460	no assertion criteria provided	tagSNP	rs1563515856
Clinvar_Rec_3780	rs1562223237	Uncertain significance	Spastic paraplegia	RCV000695072	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs1562223237
Clinvar_Rec_3781	rs138254692	Uncertain significance	Treacher Collins Syndrome, Dominant	RCV000338135	MedGen	CN239287	criteria provided, single submitter	tagSNP	rs138254692
Clinvar_Rec_3782	rs752302098	Uncertain significance	Treacher Collins Syndrome, Dominant	RCV000265275	MedGen	CN239287	criteria provided, single submitter	tagSNP	rs752302098
Clinvar_Rec_3783	rs1048723	Benign	Tay-Sachs disease, variant AB;not provided;not specified	RCV000278116;RCV000675625;RCV000153334	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1048723
Clinvar_Rec_3784	rs886060273	Uncertain significance	Tay-Sachs disease, variant AB	RCV000397999	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000	criteria provided, single submitter	tagSNP	rs886060273
Clinvar_Rec_3785	rs117832237	Likely benign	Tay-Sachs disease, variant AB	RCV000356511	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000	criteria provided, single submitter	tagSNP	rs117832237
Clinvar_Rec_3786	rs117832237	Likely benign	Tay-Sachs disease, variant AB	RCV000319402	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000	criteria provided, single submitter	LD derived	rs3806952
Clinvar_Rec_3787	rs117832237	Likely benign	Tay-Sachs disease, variant AB	RCV000326691	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000	criteria provided, single submitter	LD derived	rs3734041
Clinvar_Rec_3788	rs4704870	Benign	Congenital ichthyosiform erythroderma;not specified	RCV000381324;RCV000245316	Human Phenotype Ontology;MedGen	HP;C0079583;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4704870
Clinvar_Rec_3789	rs28362778	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000340373;RCV000755239;RCV000506683	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28362778
Clinvar_Rec_3790	rs35353967	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000399011;RCV000755933;RCV000213406	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35353967
Clinvar_Rec_3791	rs61759484	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000305574;RCV000891770;RCV000217128	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61759484
Clinvar_Rec_3792	rs11569620	Likely benign	Ectodermal dysplasia and immunodeficiency 2	RCV000394676	MedGen;OMIM	C2677481;612132	criteria provided, single submitter	tagSNP	rs11569620
Clinvar_Rec_3793	rs9333352	Likely benign	Ectodermal dysplasia and immunodeficiency 2	RCV000356514	MedGen;OMIM	C2677481;612132	criteria provided, single submitter	tagSNP	rs9333352
Clinvar_Rec_3794	rs886050493	Uncertain significance	Selective tooth agenesis	RCV000314250	Human Phenotype Ontology;MedGen	HP;C1970308	criteria provided, single submitter	tagSNP	rs886050493
Clinvar_Rec_3795	rs148935076	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000278705;RCV000858637	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	LD derived	rs148675704
Clinvar_Rec_3796	rs1561081327	Uncertain significance	Epileptic encephalopathy, early infantile, 24	RCV000714812	MedGen;OMIM	C4014531;615871	criteria provided, single submitter	tagSNP	rs1561081327
Clinvar_Rec_3797	rs75427194	Benign/Likely benign	Combined molybdoflavoprotein enzyme deficiency;Platelet-type bleeding disorder 9	RCV000338791;RCV000381194	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0268119;ORPHA99732;29692004;MedGen;614200;ORPHA98886	criteria provided, single submitter	tagSNP	rs75427194
Clinvar_Rec_3798	rs252904	Benign	46,XY sex reversal, type 6	RCV000605721	MedGen;OMIM	C3151064;613762	criteria provided, single submitter	LD derived	rs28710284
Clinvar_Rec_3799	rs252904	Benign	46,XY sex reversal, type 6	RCV000612394	MedGen;OMIM	C3151064;613762	criteria provided, single submitter	LD derived	rs832582
Clinvar_Rec_3800	rs252904	Benign	46,XY sex reversal, type 6	RCV000599946	MedGen;OMIM	C3151064;613762	criteria provided, single submitter	LD derived	rs832583
Clinvar_Rec_3801	rs772861569	Uncertain significance	Spastic paraplegia;Spastic paraplegia 42, autosomal dominant;not provided	RCV000795421;RCV000778681;RCV000482995	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0037772;MedGen;612539;ORPHA171863;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772861569
Clinvar_Rec_3802	rs1553778986	Uncertain significance	Inborn genetic diseases	RCV000623813	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553778986
Clinvar_Rec_3803	rs886058110	Uncertain significance	Spastic paraplegia, autosomal dominant	RCV000276356	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs886058110
Clinvar_Rec_3804	rs3804769	Benign	Spastic paraplegia, autosomal dominant;not provided;not specified	RCV000333848;RCV000829242;RCV000249565	MedGen	CN239430;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3804769
Clinvar_Rec_3805	rs121909484	Pathogenic	Spastic paraplegia 42, autosomal dominant	RCV000006506	MedGen;OMIM;Orphanet	C2675528;612539;ORPHA171863	no assertion criteria provided	tagSNP	rs121909484
Clinvar_Rec_3806	rs119470018	Likely pathogenic	Combined oxidative phosphorylation deficiency 1;not provided	RCV000004377;RCV000657878	MedGen;OMIM;Orphanet	C1836797;609060;ORPHA137681;MedGen	criteria provided, single submitter	tagSNP	rs119470018
Clinvar_Rec_3807	rs886056913	Uncertain significance	Multiple Epiphyseal Dysplasia, Dominant	RCV000275171	MedGen	CN043640	criteria provided, single submitter	tagSNP	rs886056913
Clinvar_Rec_3808	rs886056917	Uncertain significance	Multiple Epiphyseal Dysplasia, Dominant	RCV000368477	MedGen	CN043640	criteria provided, single submitter	tagSNP	rs886056917
Clinvar_Rec_3809	rs528927090	Pathogenic	Porokeratosis 8, disseminated superficial actinic type	RCV000144722	MedGen;OMIM	C4015128;616063	no assertion criteria provided	LD derived	rs548728088
Clinvar_Rec_3810	rs61737389	Benign	Seizures;not provided;not specified	RCV000715769;RCV000552713;RCV000426765	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61737389
Clinvar_Rec_3811	rs963605629	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000542560;RCV000542560	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs963605629
Clinvar_Rec_3812	rs1355147182	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000537504;RCV000537504	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs1355147182
Clinvar_Rec_3813	rs752833281	Likely pathogenic	Dyskeratosis congenita, autosomal recessive, 5	RCV000671530	MedGen;OMIM	C3554656;615190	criteria provided, single submitter	tagSNP	rs752833281
Clinvar_Rec_3814	rs535831345	Uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy;not specified	RCV000654310;RCV000186960	MedGen;Orphanet	C3696898;ORPHA98784;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201168195
Clinvar_Rec_3815	rs765668627	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000687933;RCV000687933	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs765668627
Clinvar_Rec_3816	rs953069213	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000703142;RCV000703142	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs953069213
Clinvar_Rec_3817	rs776525427	Likely pathogenic	Idiopathic fibrosing alveolitis, chronic form	RCV000677222	MedGen;OMIM;SNOMED CT	C1800706;178500;28168000	no assertion criteria provided	tagSNP	rs776525427
Clinvar_Rec_3818	rs181906972	Benign/Likely benign	Neuronal Ceroid-Lipofuscinosis, Recessive;not provided;not specified	RCV000300399;RCV000553668;RCV000187322	MedGen	CN239323;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs181906972
Clinvar_Rec_3819	rs886056935	Conflicting interpretations of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive;not provided	RCV000331893;RCV000632768	MedGen	CN239323;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886056935
Clinvar_Rec_3820	rs886056938	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000390559	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs886056938
Clinvar_Rec_3821	rs886056943	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000281901	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs886056943
Clinvar_Rec_3822	rs79245733	Likely benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000345732	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs79245733
Clinvar_Rec_3823	rs886056949	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000383243	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs886056949
Clinvar_Rec_3824	rs150408300	Likely benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000281977	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs150408300
Clinvar_Rec_3825	rs886056952	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000302031	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs886056952
Clinvar_Rec_3826	rs3810500	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000332327	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs3810500
Clinvar_Rec_3827	rs3810500	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000389099	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs3810500
Clinvar_Rec_3828	rs3810500	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000312433	MedGen	CN239323	criteria provided, single submitter	LD derived	rs531246320
Clinvar_Rec_3829	rs3810500	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000396702	MedGen	CN239323	criteria provided, single submitter	LD derived	rs531246320
Clinvar_Rec_3830	rs3810500	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000371743	MedGen	CN239323	criteria provided, single submitter	LD derived	rs11554629
Clinvar_Rec_3831	rs3810500	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000352876	MedGen	CN239323	criteria provided, single submitter	LD derived	rs3206771
Clinvar_Rec_3832	rs139330011	Likely benign	Focal segmental glomerulosclerosis	RCV000264354	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs139330011
Clinvar_Rec_3833	rs1555003819	Likely pathogenic	Focal segmental glomerulosclerosis 2	RCV000625638	MedGen;OMIM	C1858915;603965	no assertion criteria provided	tagSNP	rs1555003819
Clinvar_Rec_3834	rs189806840	Conflicting interpretations of pathogenicity	Anomalous origin of coronary artery from the pulmonary artery;Clinodactyly of the 5th finger;Cough;Jeune thoracic dystrophy;not provided;not specified	RCV000735390;RCV000735390;RCV000735390;RCV000231556;RCV000726077;RCV000406282	Human Phenotype Ontology;MedGen;Orphanet;MedGen;MedGen;Orphanet;SNOMED CT	HP;C4023252;ORPHA541507;Human Phenotype Ontology;C1850049;Human Phenotype Ontology;C0010200;MedGen;ORPHA474;75049004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs189806840
Clinvar_Rec_3835	rs777396565	Pathogenic	Short-rib polydactyly syndrome type III	RCV000515882	MedGen;Orphanet	C0432197;ORPHA93271	no assertion criteria provided	tagSNP	rs777396565
Clinvar_Rec_3836	rs727503796	Pathogenic	Deficiency of acetyl-CoA acetyltransferase;not provided	RCV000180090;RCV000790759	MedGen;OMIM;Orphanet;SNOMED CT	C1536500;203750;ORPHA134;124258007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503796
Clinvar_Rec_3837	rs200595874	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000131267;RCV000588159;RCV000211993	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs199543313
Clinvar_Rec_3838	rs200595874	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000221846;RCV000539143;RCV000420959	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs199543313
Clinvar_Rec_3839	rs544079379	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000557705;RCV000777908	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs562445932
Clinvar_Rec_3840	rs730881360	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000821860;RCV000579727	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881360
Clinvar_Rec_3841	rs201773026	Conflicting interpretations of pathogenicity	Ataxia-telangiectasia syndrome;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000231946;RCV001030450;RCV000115139;RCV000211940	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201773026
Clinvar_Rec_3842	rs1555067068	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000628081	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555067068
Clinvar_Rec_3843	rs1555091120	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000571900	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555091120
Clinvar_Rec_3844	rs1565441341	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776900	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565441341
Clinvar_Rec_3845	rs1060501638	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000474342	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1060501638
Clinvar_Rec_3846	rs587782478	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000692438;RCV000131592	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782478
Clinvar_Rec_3847	rs1555122073	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000628151	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555122073
Clinvar_Rec_3848	rs1057520430	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000467835	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1057520430
Clinvar_Rec_3849	rs587780640	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000122885;RCV000165284;RCV000657318	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780640
Clinvar_Rec_3850	rs1292192410	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000627880	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1292192410
Clinvar_Rec_3851	rs1555139547	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571020	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555139547
Clinvar_Rec_3852	rs876658179	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000219029;RCV000628272;RCV000444796	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658179
Clinvar_Rec_3853	rs1565608934	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000698732	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565608934
Clinvar_Rec_3854	rs1200351979	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000584213;RCV000944616	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1200351979
Clinvar_Rec_3855	rs116714119	Conflicting interpretations of pathogenicity	Deficiency of acetyl-CoA acetyltransferase;not provided	RCV000369451;RCV000951727	MedGen;OMIM;Orphanet;SNOMED CT	C1536500;203750;ORPHA134;124258007;MedGen	criteria provided, conflicting interpretations	LD derived	rs75811190
Clinvar_Rec_3856	rs190156499	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000167992;RCV000164614;RCV000479421;RCV000780899	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141921797
Clinvar_Rec_3857	rs369632687	Uncertain significance	Acute myeloid leukemia	RCV000699196	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs369632687
Clinvar_Rec_3858	rs369632687	Uncertain significance	Acute myeloid leukemia	RCV000703643	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs369632687
Clinvar_Rec_3859	rs1568419375	Uncertain significance	Acute myeloid leukemia	RCV000695818	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs1568419375
Clinvar_Rec_3860	rs1555742225	Likely benign	Acute myeloid leukemia	RCV000631441	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	criteria provided, single submitter	tagSNP	rs1555742225
Clinvar_Rec_3861	rs267606853	Pathogenic	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	RCV000014618	MedGen;OMIM;Orphanet	C3150730;613470;ORPHA712	no assertion criteria provided	tagSNP	rs267606853
Clinvar_Rec_3862	rs886054343	Uncertain significance	Mitochondrial complex IV deficiency	RCV000365070	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs886054343
Clinvar_Rec_3863	rs7925	Likely benign	Mitochondrial complex II deficiency	RCV000261418	MedGen;OMIM;Orphanet	C1855008;252011;ORPHA3208	criteria provided, single submitter	tagSNP	rs7925
Clinvar_Rec_3864	rs587784556	Uncertain significance	Primary autosomal recessive microcephaly 2	RCV000147956	MedGen;OMIM	C1858535;604317	criteria provided, single submitter	tagSNP	rs587784556
Clinvar_Rec_3865	rs559373426	Benign	RYR1-Related Disorders	RCV000655609	MedGen	CN239331	criteria provided, single submitter	LD derived	rs532738390
Clinvar_Rec_3866	rs201258123	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000394764	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs540526276
Clinvar_Rec_3867	rs77854660	Uncertain significance	Meckel-Gruber syndrome	RCV000291915	MedGen;Orphanet;SNOMED CT	C0265215;ORPHA564;29076005	criteria provided, single submitter	LD derived	rs116599193
Clinvar_Rec_3868	rs762199542	Pathogenic	Maple syrup urine disease	RCV000785061	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	tagSNP	rs762199542
Clinvar_Rec_3869	rs10421626	Likely benign	Maple syrup urine disease	RCV000318312	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	tagSNP	rs10421626
Clinvar_Rec_3870	rs1176399879	Likely benign	Diamond-Blackfan anemia	RCV000638831	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1176399879
Clinvar_Rec_3871	rs1060503688	Likely pathogenic	Diamond-Blackfan anemia	RCV000462953	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1060503688
Clinvar_Rec_3872	rs1555765524	Likely pathogenic	Ethylmalonic encephalopathy	RCV000644795	MedGen;OMIM;Orphanet	C1865349;602473;ORPHA51188	criteria provided, single submitter	tagSNP	rs1555765524
Clinvar_Rec_3873	rs267606663	no interpretation for the single variant	Familial type 3 hyperlipoproteinemia	RCV000019452	MedGen;OMIM;Orphanet;SNOMED CT	C0020479;617347;ORPHA412;398796005	no interpretation for the single variant	tagSNP	rs267606663
Clinvar_Rec_3874	rs142008319	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000270501	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	LD derived	rs546630522
Clinvar_Rec_3875	rs139770263	Uncertain significance	Congenital hyperammonemia, type I	RCV000363373	MedGen;OMIM;Orphanet;SNOMED CT	C4082171;237300;ORPHA147;62522004	criteria provided, single submitter	tagSNP	rs139770263
Clinvar_Rec_3876	rs730881427	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000537396;RCV000575129;RCV000159827	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881427
Clinvar_Rec_3877	rs730881409	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574166	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs730881409
Clinvar_Rec_3878	rs1553612018	Uncertain significance	Familial cancer of breast	RCV000635782	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1553612018
Clinvar_Rec_3879	rs730881426	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000475914;RCV000159826;RCV000212145;RCV000779829	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881426
Clinvar_Rec_3880	rs1553612064	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000702423;RCV000570443	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553612064
Clinvar_Rec_3881	rs34677017	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568220	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs34677017
Clinvar_Rec_3882	rs34677017	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000800753;RCV000220702;RCV000586005	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34677017
Clinvar_Rec_3883	rs876658286	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216968	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658286
Clinvar_Rec_3884	rs747466434	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000571886;RCV000467759	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747466434
Clinvar_Rec_3885	rs1559372078	Uncertain significance	Familial cancer of breast	RCV000700313	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1559372078
Clinvar_Rec_3886	rs878854005	Uncertain significance	Familial cancer of breast	RCV000228375	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs878854005
Clinvar_Rec_3887	rs786203497	Likely benign	Hereditary cancer-predisposing syndrome	RCV000166826	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203497
Clinvar_Rec_3888	rs876658193	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579675	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658193
Clinvar_Rec_3889	rs876658193	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213710	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658193
Clinvar_Rec_3890	rs564838936	Uncertain significance	Familial cancer of breast	RCV000540717	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs564838936
Clinvar_Rec_3891	rs150121935	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	RCV000198509;RCV000131586;RCV000236887	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150121935
Clinvar_Rec_3892	rs368488821	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000559010;RCV000217333	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs368488821
Clinvar_Rec_3893	rs1559372586	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000773708;RCV000944431	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1559372586
Clinvar_Rec_3894	rs749485640	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001040566;RCV000562249	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs749485640
Clinvar_Rec_3895	rs759021562	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000164018;RCV000559930;RCV000425424	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759021562
Clinvar_Rec_3896	rs1553615162	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584359	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553615162
Clinvar_Rec_3897	rs748796794	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569674;RCV000470262	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748796794
Clinvar_Rec_3898	rs957472472	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000540380;RCV000580242;RCV000758767	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs957472472
Clinvar_Rec_3899	rs587780015	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV001054243;RCV001010776;RCV000586761	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780015
Clinvar_Rec_3900	rs587780015	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000808881;RCV000115610;RCV000212126	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780015
Clinvar_Rec_3901	rs786203825	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167300	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203825
Clinvar_Rec_3902	rs1553622164	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000569122;RCV000657366	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553622164
Clinvar_Rec_3903	rs786202226	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000635846;RCV000164942;RCV000235987;RCV001001072	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202226
Clinvar_Rec_3904	rs1553622167	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571131	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553622167
Clinvar_Rec_3905	rs1559423578	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774141	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1559423578
Clinvar_Rec_3906	rs1553622181	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV001043995;RCV000571756	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553622181
Clinvar_Rec_3907	rs1553622181	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000802440;RCV000773408	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553622181
Clinvar_Rec_3908	rs796666047	Pathogenic	Familial cancer of breast;not provided	RCV000685501;RCV000432054	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796666047
Clinvar_Rec_3909	rs796666047	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001042194;RCV000780952;RCV000584178	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs796666047
Clinvar_Rec_3910	rs370553043	Benign/Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000987017;RCV000164204;RCV000679330;RCV000444966	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370553043
Clinvar_Rec_3911	rs774439137	Uncertain significance	Familial cancer of breast	RCV000635795	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs774439137
Clinvar_Rec_3912	rs774439137	Uncertain significance	Familial cancer of breast	RCV000635932	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs774439137
Clinvar_Rec_3913	rs1553622212	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000799321;RCV000567741	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553622212
Clinvar_Rec_3914	rs761516178	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000552814;RCV000570112	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs761516178
Clinvar_Rec_3915	rs1172376225	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571246	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1172376225
Clinvar_Rec_3916	rs1172376225	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776587	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1172376225
Clinvar_Rec_3917	rs1060501306	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000475280;RCV000568338	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501306
Clinvar_Rec_3918	rs1064794985	Uncertain significance	Familial cancer of breast;not provided	RCV000818162;RCV000486796	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794985
Clinvar_Rec_3919	rs1315898207	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000550101;RCV001009785	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1315898207
Clinvar_Rec_3920	rs864622443	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	RCV000206684;RCV000575881;RCV000440298	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622443
Clinvar_Rec_3921	rs587781313	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000464058;RCV000129042	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781313
Clinvar_Rec_3922	rs1559424267	Uncertain significance	Familial cancer of breast	RCV000689812	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1559424267
Clinvar_Rec_3923	rs1378818781	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635871;RCV000571837	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1378818781
Clinvar_Rec_3924	rs375048835	Uncertain significance	Familial cancer of breast	RCV000204605	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs375048835
Clinvar_Rec_3925	rs375048835	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000468062;RCV000217260	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs375048835
Clinvar_Rec_3926	rs1412871752	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773218	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1412871752
Clinvar_Rec_3927	rs141934748	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000219572	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs141934748
Clinvar_Rec_3928	rs1553622382	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563622	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553622382
Clinvar_Rec_3929	rs876659291	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000222445	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659291
Clinvar_Rec_3930	rs765629130	Pathogenic	Familial cancer of breast	RCV000547826	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs765629130
Clinvar_Rec_3931	rs765629130	Uncertain significance	Familial cancer of breast	RCV000706395	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs765629130
Clinvar_Rec_3932	rs1060501296	Uncertain significance	Familial cancer of breast	RCV000467907	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060501296
Clinvar_Rec_3933	rs587780036	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000197946;RCV000115643;RCV000212124;RCV000781933	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780036
Clinvar_Rec_3934	rs1553622477	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635755;RCV000773233	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553622477
Clinvar_Rec_3935	rs587780034	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000539651;RCV000771711	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780034
Clinvar_Rec_3936	rs587780034	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000813058;RCV000561313;RCV000115640	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780034
Clinvar_Rec_3937	rs756803590	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000569525;RCV000589549;RCV000421657	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756803590
Clinvar_Rec_3938	rs756803590	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772791	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs756803590
Clinvar_Rec_3939	rs864622223	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000203908;RCV000574625;RCV000235850	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622223
Clinvar_Rec_3940	rs1553622635	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581731	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553622635
Clinvar_Rec_3941	rs876658147	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000230133;RCV000218271	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658147
Clinvar_Rec_3942	rs980413835	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635757;RCV000572240	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs980413835
Clinvar_Rec_3943	rs876658313	Uncertain significance	Familial cancer of breast	RCV000635829	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs876658313
Clinvar_Rec_3944	rs876658313	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000220483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658313
Clinvar_Rec_3945	rs587781806	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000130077	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781806
Clinvar_Rec_3946	rs1420243208	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000777118	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1420243208
Clinvar_Rec_3947	rs587782395	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000461308;RCV000131410	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782395
Clinvar_Rec_3948	rs1423628588	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568461	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1423628588
Clinvar_Rec_3949	rs757569689	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000635818;RCV000222398	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs757569689
Clinvar_Rec_3950	rs766086132	Uncertain significance	Schimke immuno-osseous dysplasia	RCV000688239	MedGen;OMIM;Orphanet	C0877024;242900;ORPHA1830	criteria provided, single submitter	tagSNP	rs766086132
Clinvar_Rec_3951	rs367721351	Conflicting interpretations of pathogenicity	GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency, nuclear type 1;not specified	RCV000340599;RCV000395551;RCV000302189;RCV000605569	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C1864002;603358;ORPHA53693;MedGen;256000;ORPHA506;29570005;MedGen;124000;ORPHA254902;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367721351
Clinvar_Rec_3952	rs538403599	Uncertain significance	Brachydactyly	RCV000272980	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0221357;43476002	criteria provided, single submitter	tagSNP	rs538403599
Clinvar_Rec_3953	rs561858322	Pathogenic/Likely pathogenic	Cholestanol storage disease;not provided	RCV000004482;RCV000726759	MedGen;OMIM;Orphanet;SNOMED CT	C0238052;213700;ORPHA909;63246000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs121908099
Clinvar_Rec_3954	rs397514757	Pathogenic	Dyschromatosis universalis hereditaria 3	RCV000054817	MedGen;OMIM	C3809394;615402	no assertion criteria provided	tagSNP	rs397514757
Clinvar_Rec_3955	rs794728992	Conflicting interpretations of pathogenicity	Muscular dystrophy, limb-girdle, type 2R;Myofibrillar myopathy 1;not provided	RCV000691921;RCV000691921;RCV000183367	MedGen;OMIM;Orphanet	C3809137;MedGen;601419;ORPHA98909;MedGen	criteria provided, conflicting interpretations	tagSNP	rs794728992
Clinvar_Rec_3956	rs1058261	Benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant;Myofibrillar myopathy 1;Scapuloperoneal weakness;not specified	RCV000247557;RCV000397462;RCV000338231;RCV000311313;RCV000390698;RCV000037254	MedGen;OMIM;Orphanet;MedGen	CN230736;MedGen;601419;ORPHA98909;Human Phenotype Ontology;C1842161;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1058261
Clinvar_Rec_3957	rs1058261	Benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant;Myofibrillar myopathy 1;Scapuloperoneal weakness;not provided;not specified	RCV000250707;RCV000270208;RCV000388336;RCV000325316;RCV000293964;RCV000710116;RCV000037222	MedGen;OMIM;Orphanet;MedGen	CN230736;MedGen;601419;ORPHA98909;Human Phenotype Ontology;C1842161;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12920
Clinvar_Rec_3958	rs1058261	Benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant;Myofibrillar myopathy 1;Scapuloperoneal weakness;not provided;not specified	RCV000242476;RCV000403379;RCV000305879;RCV000405738;RCV000342152;RCV000710117;RCV000037225	MedGen;OMIM;Orphanet;MedGen	CN230736;MedGen;601419;ORPHA98909;Human Phenotype Ontology;C1842161;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1058284
Clinvar_Rec_3959	rs1060503168	Uncertain significance	Muscular dystrophy, limb-girdle, type 2R;Myofibrillar myopathy 1;not provided	RCV000468065;RCV000468065;RCV000481645	MedGen;OMIM;Orphanet	C3809137;MedGen;601419;ORPHA98909;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503168
Clinvar_Rec_3960	rs760929207	Likely pathogenic	Three M syndrome 1	RCV000778117	MedGen;OMIM	C1848862;273750	no assertion criteria provided	tagSNP	rs760929207
Clinvar_Rec_3961	rs536860617	Conflicting interpretations of pathogenicity	Waardenburg syndrome type 1;not provided;not specified	RCV000660211;RCV000885139;RCV000219480	MedGen;OMIM;Orphanet	C1847800;193500;ORPHA894;MedGen	criteria provided, conflicting interpretations	LD derived	rs116473352
Clinvar_Rec_3962	rs76767223	Benign/Likely benign	HNSHA due to aldolase A deficiency;not provided;not specified	RCV000635194;RCV000675909;RCV000430973	MedGen;OMIM;Orphanet;SNOMED CT	C0272066;611881;ORPHA57;111578003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76767223
Clinvar_Rec_3963	rs886051894	Uncertain significance	HNSHA due to aldolase A deficiency	RCV000313021	MedGen;OMIM;Orphanet;SNOMED CT	C0272066;611881;ORPHA57;111578003	criteria provided, single submitter	tagSNP	rs886051894
Clinvar_Rec_3964	rs74666135	Benign/Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000358351;RCV000955508;RCV000147667	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74947321
Clinvar_Rec_3965	rs139339184	Benign/Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000269957;RCV000437632;RCV000203105	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139339184
Clinvar_Rec_3966	rs139339184	Benign/Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000311747;RCV000513908;RCV000202654	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs150246733
Clinvar_Rec_3967	rs79597785	Benign/Likely benign	Floating-Harbor syndrome;not specified	RCV000260460;RCV000147664	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79597785
Clinvar_Rec_3968	rs1567248015	Uncertain significance	Floating-Harbor syndrome	RCV000681654	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005	criteria provided, single submitter	tagSNP	rs1567248015
Clinvar_Rec_3969	rs117804715	Benign/Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000147665;RCV000515070;RCV000176565	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117804715
Clinvar_Rec_3970	rs771606237	Uncertain significance	Floating-Harbor syndrome	RCV000354815	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005	criteria provided, single submitter	tagSNP	rs771606237
Clinvar_Rec_3971	rs587777656	Pathogenic	Floating-Harbor syndrome	RCV000133554	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005	no assertion criteria provided	tagSNP	rs587777656
Clinvar_Rec_3972	rs142242633	Likely benign	Floating-Harbor syndrome;not provided	RCV000262377;RCV000915066	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142242633
Clinvar_Rec_3973	rs73538429	Benign/Likely benign	Floating-Harbor syndrome;not provided	RCV000384264;RCV000882872	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73538429
Clinvar_Rec_3974	rs142948420	Benign/Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000332093;RCV000887051;RCV000177795	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142948420
Clinvar_Rec_3975	rs886051919	Likely benign	Glycogen phosphorylase kinase deficiency	RCV000368207	MedGen;Orphanet;SNOMED CT	C0268147;ORPHA370;235908005	criteria provided, single submitter	tagSNP	rs886051919
Clinvar_Rec_3976	rs869312830	Pathogenic	Schizophrenia	RCV000210255	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0036341;181500;58214004	criteria provided, single submitter	tagSNP	rs869312830
Clinvar_Rec_3977	rs61742245	drug response	Warfarin response;warfarin response - Dosage	RCV000002296;RCV000211202	MedGen;OMIM	C0750384;122700;MedGen	reviewed by expert panel	tagSNP	rs61742245
Clinvar_Rec_3978	rs560450437	Uncertain significance	Amyotrophic lateral sclerosis type 6;Tremor, hereditary essential, 4	RCV000650267;RCV000650267	MedGen;OMIM;OMIM	C1842675;608030;MedGen;614782	criteria provided, single submitter	tagSNP	rs560450437
Clinvar_Rec_3979	rs557690622	Uncertain significance	Familial renal glucosuria	RCV000310034	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007	criteria provided, single submitter	tagSNP	rs557690622
Clinvar_Rec_3980	rs1555933313	Uncertain significance	Febrile seizures;Macrocephalus;Myocarditis;Ventriculomegaly	RCV000627001;RCV000627001;RCV000627001;RCV000627001	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen	HP;C0009952;Human Phenotype Ontology;C2243051;Human Phenotype Ontology;C0027059;Human Phenotype Ontology;C3278923	criteria provided, single submitter	tagSNP	rs1555933313
Clinvar_Rec_3981	rs1569192251	Pathogenic	Osteopathia striata with cranial sclerosis	RCV000011451	MedGen;OMIM;Orphanet;SNOMED CT	C0432268;300373;ORPHA2780;254129003	no assertion criteria provided	tagSNP	rs1569192251
Clinvar_Rec_3982	rs6524946	Benign	History of neurodevelopmental disorder	RCV000715610	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs6524946
Clinvar_Rec_3983	rs6524946	Benign	History of neurodevelopmental disorder	RCV000715569	MedGen	C2711754	criteria provided, single submitter	LD derived	rs6653206
Clinvar_Rec_3984	rs762466624	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000621267;RCV000633699;RCV000607202	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762466624
Clinvar_Rec_3985	rs1064793139	Uncertain significance	Charcot-Marie-Tooth Neuropathy X;Charcot-Marie-Tooth disease;not provided	RCV000697574;RCV001027491;RCV000480735	MedGen;Orphanet;SNOMED CT	CN118851;MedGen;ORPHA166;50548001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793139
Clinvar_Rec_3986	rs876661119	Likely pathogenic	Charcot-Marie-Tooth disease;not provided	RCV000789170;RCV000216227	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs876661119
Clinvar_Rec_3987	rs104894826	Pathogenic	Dejerine-Sottas disease;X-linked hereditary motor and sensory neuropathy	RCV000011197;RCV000011196	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C0011195;145900;ORPHA64748;111499002;MedGen;302800;230552007	no assertion criteria provided	tagSNP	rs104894826
Clinvar_Rec_3988	rs6647476	Benign	Allan-Herndon-Dudley syndrome;History of neurodevelopmental disorder;not provided;not specified	RCV000020650;RCV000715360;RCV000829237;RCV000081443	MedGen;OMIM;Orphanet	C0795889;300523;ORPHA59;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6647476
Clinvar_Rec_3989	rs193920920	Uncertain significance	Malignant tumor of prostate	RCV000149384	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920920
Clinvar_Rec_3990	rs752183295	Uncertain significance	Mental retardation, X-linked 98	RCV000651331	MedGen;OMIM;Orphanet	C3806730;300912;ORPHA85277	criteria provided, single submitter	tagSNP	rs752183295
Clinvar_Rec_3991	rs1240885021	Uncertain significance	History of neurodevelopmental disorder	RCV000719077	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1240885021
Clinvar_Rec_3992	rs17091220	Likely benign	Progressive myoclonus epilepsy with ataxia	RCV000397917	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs17091220
Clinvar_Rec_3993	rs1043652	Benign	Progressive myoclonus epilepsy with ataxia	RCV000302086	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs1043652
Clinvar_Rec_3994	rs3827522	Benign/Likely benign	Progressive myoclonus epilepsy with ataxia;Seizures;not provided;not specified	RCV000333507;RCV000716752;RCV000858121;RCV000118052	MedGen;OMIM;MedGen	C2676254;612437;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3827522
Clinvar_Rec_3995	rs1555229289	Uncertain significance	Progressive myoclonus epilepsy with ataxia	RCV000547364	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs1555229289
Clinvar_Rec_3996	rs936545109	Uncertain significance	Progressive myoclonus epilepsy with ataxia	RCV000544669	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs936545109
Clinvar_Rec_3997	rs552840971	Uncertain significance	Seizures	RCV000720364	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs552840971
Clinvar_Rec_3998	rs886049376	Uncertain significance	Progressive myoclonus epilepsy with ataxia	RCV000397049	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs886049376
Clinvar_Rec_3999	rs796052240	Pathogenic	COFFIN-SIRIS SYNDROME 6;not provided	RCV000523398;RCV000190118	MedGen;OMIM	C4540499;617808;MedGen	criteria provided, single submitter	tagSNP	rs796052240
Clinvar_Rec_4000	rs796052241	Pathogenic	COFFIN-SIRIS SYNDROME 6	RCV000521774	MedGen;OMIM	C4540499;617808	no assertion criteria provided	tagSNP	rs796052241
Clinvar_Rec_4001	rs56382517	Uncertain significance	Vitamin D-Dependent Rickets	RCV000287547	MedGen	C0221468	criteria provided, single submitter	tagSNP	rs56382517
Clinvar_Rec_4002	rs11574118	Uncertain significance	Vitamin D-Dependent Rickets	RCV000290675	MedGen	C0221468	criteria provided, single submitter	tagSNP	rs11574118
Clinvar_Rec_4003	rs11574118	Uncertain significance	Vitamin D-Dependent Rickets	RCV000273272	MedGen	C0221468	criteria provided, single submitter	LD derived	rs11168263
Clinvar_Rec_4004	rs112308011	Uncertain significance	Vitamin D-Dependent Rickets	RCV000348189	MedGen	C0221468	criteria provided, single submitter	tagSNP	rs112308011
Clinvar_Rec_4005	rs75064228	Likely benign	Glycogen storage disease, type VII	RCV000270470	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008	criteria provided, single submitter	LD derived	rs41291959
Clinvar_Rec_4006	rs75064228	Benign/Likely benign	Glycogen storage disease, type VII;not provided;not specified	RCV000283573;RCV000675433;RCV000253516	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2228501
Clinvar_Rec_4007	rs755992543	not provided	Glycogen storage disease, type VII	RCV000709984	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008	no assertion provided	tagSNP	rs755992543
Clinvar_Rec_4008	rs3936179	Likely benign	Glycogen storage disease, type VII	RCV000270470	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008	criteria provided, single submitter	LD derived	rs41291959
Clinvar_Rec_4009	rs3936179	Benign/Likely benign	Glycogen storage disease, type VII;not provided;not specified	RCV000283573;RCV000675433;RCV000253516	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2228501
Clinvar_Rec_4010	rs587783696	Pathogenic	Kabuki syndrome 1	RCV000146175	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs587783696
Clinvar_Rec_4011	rs886042207	Uncertain significance	Kabuki syndrome 1;not provided	RCV000763852;RCV000381492	MedGen;OMIM	CN030661;147920;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886042207
Clinvar_Rec_4012	rs1555187575	Likely pathogenic	Kabuki syndrome 1	RCV000659805	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs1555187575
Clinvar_Rec_4013	rs533214351	Uncertain significance	Kabuki syndrome	RCV000385833	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs533214351
Clinvar_Rec_4014	rs1555187741	Likely pathogenic	Kabuki syndrome 1	RCV000659804	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs1555187741
Clinvar_Rec_4015	rs587783687	Pathogenic	Kabuki syndrome 1	RCV000146163	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs587783687
Clinvar_Rec_4016	rs199895011	Conflicting interpretations of pathogenicity	Kabuki syndrome;Kabuki syndrome 1;not provided;not specified	RCV000350866;RCV000146162;RCV000224717;RCV000080125	MedGen;Orphanet;SNOMED CT;OMIM	C0796004;ORPHA2322;313426007;MedGen;147920;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199895011
Clinvar_Rec_4017	rs760983900	Uncertain significance	Kabuki syndrome	RCV000263556	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs760983900
Clinvar_Rec_4018	rs1057519067	Pathogenic	Kabuki syndrome 1	RCV000416323	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs1057519067
Clinvar_Rec_4019	rs1555189038	Pathogenic/Likely pathogenic	Kabuki syndrome;Kabuki syndrome 1	RCV000704753;RCV000659783	MedGen;Orphanet;SNOMED CT;OMIM	C0796004;ORPHA2322;313426007;MedGen;147920	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555189038
Clinvar_Rec_4020	rs1555190324	Pathogenic	Kabuki syndrome	RCV000544434	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs1555190324
Clinvar_Rec_4021	rs1057516188	Uncertain significance	Kabuki syndrome 1	RCV000408806	MedGen;OMIM	CN030661;147920	no assertion criteria provided	tagSNP	rs1057516188
Clinvar_Rec_4022	rs1452715535	Pathogenic	Inborn genetic diseases;Kabuki syndrome 1;not provided	RCV000622445;RCV000659734;RCV000760463	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;147920;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1452715535
Clinvar_Rec_4023	rs1565812092	Pathogenic	Kabuki syndrome	RCV000689868	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs1565812092
Clinvar_Rec_4024	rs1555196013	Uncertain significance	Connective tissue nevi;Seizures	RCV000626846;RCV000626846	Human Phenotype Ontology;MedGen;MedGen	HP;C0334083;Human Phenotype Ontology;C0036572	criteria provided, single submitter	tagSNP	rs1555196013
Clinvar_Rec_4025	rs587783712	Pathogenic	Kabuki syndrome 1	RCV000146201	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs587783712
Clinvar_Rec_4026	rs745673119	Uncertain significance	Kabuki syndrome	RCV000349743	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs745673119
Clinvar_Rec_4027	rs757089451	Uncertain significance	Kabuki syndrome	RCV000320184	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs757089451
Clinvar_Rec_4028	rs200155807	Conflicting interpretations of pathogenicity	Kabuki syndrome;not provided;not specified	RCV000294446;RCV000725951;RCV000146193	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200155807
Clinvar_Rec_4029	rs1565819202	Uncertain significance	Kabuki syndrome	RCV000688525	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs1565819202
Clinvar_Rec_4030	rs113282510	Conflicting interpretations of pathogenicity	Kabuki syndrome;not provided	RCV000304834;RCV000080157	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs113282510
Clinvar_Rec_4031	rs1555162307	Likely pathogenic	Tubulinopathies;not provided	RCV000767457;RCV000521383	MedGen	CN850169;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555162307
Clinvar_Rec_4032	rs587784493	Uncertain significance	Lissencephaly 3	RCV000147817	MedGen;OMIM;Orphanet	C1969029;611603;ORPHA171680	criteria provided, single submitter	tagSNP	rs587784493
Clinvar_Rec_4033	rs886049495	Uncertain significance	Lissencephaly, Dominant	RCV000377363	MedGen	CN239306	criteria provided, single submitter	tagSNP	rs886049495
Clinvar_Rec_4034	rs3026434	Benign/Likely benign	Keratosis follicularis;not specified	RCV000334788;RCV000444637	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3026434
Clinvar_Rec_4035	rs375770050	Uncertain significance	Keratosis follicularis	RCV000372229	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009	criteria provided, single submitter	tagSNP	rs375770050
Clinvar_Rec_4036	rs187051501	Benign/Likely benign	Keratosis follicularis;not specified	RCV000279704;RCV000434109	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201929640
Clinvar_Rec_4037	rs187051501	Benign/Likely benign	Keratosis follicularis;not provided;not specified	RCV000369188;RCV000891749;RCV000424919	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55984131
Clinvar_Rec_4038	rs187051501	Likely benign	Keratosis follicularis	RCV000330937	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009	criteria provided, single submitter	LD derived	rs75547854
Clinvar_Rec_4039	rs187051501	Benign/Likely benign	Joubert syndrome;not provided;not specified	RCV000334707;RCV000513867;RCV000147734	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs76843552
Clinvar_Rec_4040	rs187051501	Conflicting interpretations of pathogenicity	Joubert syndrome;not provided;not specified	RCV000271091;RCV000515106;RCV000079449	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	LD derived	rs75714509
Clinvar_Rec_4041	rs2301610	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 10;Hypertrophic cardiomyopathy;not provided;not specified	RCV000776005;RCV000251488;RCV000599777;RCV000312903;RCV000024462;RCV000036380	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;608758;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2301610
Clinvar_Rec_4042	rs397516808	Likely benign	Rasopathy;not specified	RCV000654980;RCV000037655	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516808
Clinvar_Rec_4043	rs397507501	Pathogenic	Noonan syndrome;Rasopathy;not provided	RCV000157002;RCV000227194;RCV000157675	MeSH;MedGen;Orphanet;SNOMED CT;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507501
Clinvar_Rec_4044	rs397507505	Pathogenic	Noonan syndrome;Rasopathy;not provided	RCV000037626;RCV000456871;RCV000157676	MeSH;MedGen;Orphanet;SNOMED CT;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507505
Clinvar_Rec_4045	rs397507505	Pathogenic	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Rasopathy;not provided	RCV000768061;RCV000768061;RCV000768061;RCV000037627;RCV000768061;RCV000234028;RCV000033455	Human Phenotype Ontology;MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0349639;607785;ORPHA86834;MedGen;151100;MedGen;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;163950;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507505
Clinvar_Rec_4046	rs751437780	Uncertain significance	Rasopathy;not provided;not specified	RCV000691488;RCV000413828;RCV000780655	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751437780
Clinvar_Rec_4047	rs397507506	Pathogenic	Noonan syndrome;Noonan syndrome 3;Rasopathy;not provided	RCV000037629;RCV000587067;RCV000556984;RCV000157677	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;609942;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507506
Clinvar_Rec_4048	rs397507506	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia;LEOPARD syndrome 1;Metachondromatosis;Noonan syndrome;Noonan syndrome 1;Noonan syndrome 1;Rasopathy;not provided	RCV000515267;RCV000515267;RCV000515267;RCV000211846;RCV000037630;RCV000515267;RCV000588173;RCV000033457	Human Phenotype Ontology;MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0349639;607785;ORPHA86834;MedGen;151100;MedGen;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;163950;MedGen;163950;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507506
Clinvar_Rec_4049	rs121918458	Pathogenic	Juvenile myelomonocytic leukemia;Noonan syndrome;Noonan syndrome;Noonan syndrome 1;not provided	RCV000033543;RCV000033543;RCV000156995;RCV000014260;RCV000212897	Human Phenotype Ontology;MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0349639;607785;ORPHA86834;MeSH;C0028326;ORPHA648;205824006;MeSH;C0028326;ORPHA648;205824006;MedGen;163950;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918458
Clinvar_Rec_4050	rs121918458	Pathogenic	Juvenile myelomonocytic leukemia;Noonan syndrome;not provided	RCV000033542;RCV000033542;RCV000212898	Human Phenotype Ontology;MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	HP;C0349639;607785;ORPHA86834;MeSH;C0028326;ORPHA648;205824006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918458
Clinvar_Rec_4051	rs886048979	Uncertain significance	Metachondromatosis;Noonan syndrome;Noonan syndrome with multiple lentigines	RCV000380020;RCV000316069;RCV000266651	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet	C0410530;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA500	criteria provided, single submitter	tagSNP	rs886048979
Clinvar_Rec_4052	rs566107581	Likely benign	Holt-Oram syndrome	RCV000319160	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs566107581
Clinvar_Rec_4053	rs883079	Benign	Holt-Oram syndrome	RCV000383069	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs883079
Clinvar_Rec_4054	rs575879858	Likely benign	Holt-Oram syndrome	RCV000342848	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs575879858
Clinvar_Rec_4055	rs146480305	Likely benign	Ulnar-mammary syndrome	RCV000372163	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs146480305
Clinvar_Rec_4056	rs746896090	Uncertain significance	Ulnar-mammary syndrome	RCV000313327	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs746896090
Clinvar_Rec_4057	rs886049007	Uncertain significance	Ulnar-mammary syndrome	RCV000313192	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs886049007
Clinvar_Rec_4058	rs3741699	Likely benign	Ulnar-mammary syndrome	RCV000356317	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs3741699
Clinvar_Rec_4059	rs886049009	Uncertain significance	Ulnar-mammary syndrome	RCV000284619	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs886049009
Clinvar_Rec_4060	rs150286184	Likely benign	Ulnar-mammary syndrome	RCV000327945	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs150286184
Clinvar_Rec_4061	rs146589414	Benign/Likely benign	Ulnar-mammary syndrome;not specified	RCV000325449;RCV000179458	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146589414
Clinvar_Rec_4062	rs35069811	Benign/Likely benign	Ulnar-mammary syndrome;not provided	RCV000278784;RCV000878123	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35069811
Clinvar_Rec_4063	rs927204453	Uncertain significance	Inborn genetic diseases	RCV000623643	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs927204453
Clinvar_Rec_4064	rs752801993	Uncertain significance	Ulnar-mammary syndrome	RCV000345328	MedGen;OMIM;Orphanet	C1866994;181450;ORPHA3138	criteria provided, single submitter	tagSNP	rs752801993
Clinvar_Rec_4065	rs144457722	Conflicting interpretations of pathogenicity	Mental retardation and distinctive facial features with or without cardiac defects;not provided	RCV000655965;RCV000640147	MedGen;OMIM;Orphanet	C4225208;616789;ORPHA369891;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144457722
Clinvar_Rec_4066	rs777986630	Uncertain significance	Inborn genetic diseases	RCV000623508	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs777986630
Clinvar_Rec_4067	rs754447057	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Distal hereditary motor neuronopathy	RCV000296171;RCV000336080	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs754447057
Clinvar_Rec_4068	rs146900850	Uncertain significance	Charcot-Marie-Tooth disease, type 2L;Charcot-Marie-Tooth disease, type 2L;Distal hereditary motor neuronopathy type 2A;not provided	RCV000687583;RCV000763796;RCV000763796;RCV000761844	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM	C1837552;608673;ORPHA99945;MedGen;608673;ORPHA99945;MedGen;158590;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146900850
Clinvar_Rec_4069	rs1555961964	Likely pathogenic	Retinitis pigmentosa	RCV000504954	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs1555961964
Clinvar_Rec_4070	rs909942650	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Oculofaciocardiodental syndrome	RCV000623285;RCV000475420	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;300166;ORPHA2712	criteria provided, conflicting interpretations	tagSNP	rs909942650
Clinvar_Rec_4071	rs1555918014	Pathogenic	Oculofaciocardiodental syndrome;not provided	RCV000011663;RCV000524073	MedGen;OMIM;Orphanet	C1846265;300166;ORPHA2712;MedGen	criteria provided, single submitter	tagSNP	rs1555918014
Clinvar_Rec_4072	rs1555918075	Uncertain significance	Oculofaciocardiodental syndrome	RCV000558239	MedGen;OMIM;Orphanet	C1846265;300166;ORPHA2712	criteria provided, single submitter	tagSNP	rs1555918075
Clinvar_Rec_4073	rs144722432	Conflicting interpretations of pathogenicity	Lenz microphthalmia syndrome;not provided;not specified	RCV000625946;RCV000640962;RCV000193574	MedGen;OMIM;Orphanet;SNOMED CT	C0796016;309800;ORPHA568;438504004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144722432
Clinvar_Rec_4074	rs864309702	Pathogenic	Congenital cataract	RCV000203315	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	no assertion criteria provided	tagSNP	rs864309702
Clinvar_Rec_4075	rs1555919769	Uncertain significance	Inborn genetic diseases	RCV000624074	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555919769
Clinvar_Rec_4076	rs1450768568	Likely benign	Oculofaciocardiodental syndrome	RCV000640956	MedGen;OMIM;Orphanet	C1846265;300166;ORPHA2712	criteria provided, single submitter	tagSNP	rs1450768568
Clinvar_Rec_4077	rs121918521	Pathogenic	Mental retardation, X-linked, syndromic, Hedera type	RCV000011548	MedGen;OMIM;Orphanet	C1845543;300423;ORPHA93952	no assertion criteria provided	tagSNP	rs121918521
Clinvar_Rec_4078	rs1555932766	Likely pathogenic	Mental retardation, X-linked 99, syndromic, female-restricted	RCV000578171	MedGen;OMIM;Orphanet	C4225416;300968;ORPHA480880	criteria provided, single submitter	tagSNP	rs1555932766
Clinvar_Rec_4079	rs1555953882	Pathogenic	Inborn genetic diseases	RCV000624480	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555953882
Clinvar_Rec_4080	rs1141273	Uncertain significance	Mental retardation, CASK-related, X-linked	RCV000691244	MedGen	C2749054	criteria provided, single submitter	tagSNP	rs1141273
Clinvar_Rec_4081	rs782539023	Benign	Abnormality of neuronal migration	RCV000201362	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs782539023
Clinvar_Rec_4082	rs782629258	Likely benign	History of neurodevelopmental disorder;not provided	RCV000720372;RCV000871440	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782629258
Clinvar_Rec_4083	rs781795776	Benign	History of neurodevelopmental disorder	RCV000715115	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs781795776
Clinvar_Rec_4084	rs267606812	Uncertain significance	Myopathy with postural muscle atrophy, X-linked	RCV000646184	MedGen;OMIM;Orphanet	C2678055;300696;ORPHA178461	criteria provided, single submitter	tagSNP	rs267606812
Clinvar_Rec_4085	rs267606812	Pathogenic	Myopathy, reducing body, X-linked, early-onset, severe	RCV000012317	MedGen;OMIM	C4225423;300717	no assertion criteria provided	tagSNP	rs267606812
Clinvar_Rec_4086	rs3788953	Benign	Myopathy with postural muscle atrophy, X-linked;Scapuloperoneal myopathy, X-linked dominant;not specified	RCV000576703;RCV000576703;RCV000179824	MedGen;OMIM;Orphanet;OMIM;Orphanet	C2678055;300696;ORPHA178461;MedGen;300695;ORPHA431272;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2076705
Clinvar_Rec_4087	rs864622773	Pathogenic	Mucopolysaccharidosis, MPS-II	RCV000205679	MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT	C0026705;309900;ORPHA217085;ORPHA217093;ORPHA580;70737009	criteria provided, single submitter	tagSNP	rs864622773
Clinvar_Rec_4088	rs186519008	Likely benign	Greenberg dysplasia	RCV000358303	MedGen;OMIM;Orphanet;SNOMED CT	C2931048;215140;ORPHA1426;389261002	criteria provided, single submitter	tagSNP	rs186519008
Clinvar_Rec_4089	rs139924814	Uncertain significance	Hereditary renal cell carcinoma	RCV000678681	MedGen	C2608055	no assertion criteria provided	tagSNP	rs139924814
Clinvar_Rec_4090	rs150400387	Uncertain significance	Alzheimer disease, type 4	RCV000687794	MedGen;OMIM	C1847200;606889	criteria provided, single submitter	tagSNP	rs150400387
Clinvar_Rec_4091	rs886046073	Uncertain significance	Autosomal recessive cerebellar ataxia;Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type	RCV000300587;RCV000334300	MedGen;Orphanet	CN226644;ORPHA1172;MedGen	criteria provided, single submitter	tagSNP	rs886046073
Clinvar_Rec_4092	rs1553255301	Likely pathogenic	Congenital myopathy with excess of thin filaments	RCV000543487	MedGen;OMIM;Orphanet	C3711389;161800;ORPHA98904	criteria provided, single submitter	tagSNP	rs1553255301
Clinvar_Rec_4093	rs200830930	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000361981	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	tagSNP	rs200830930
Clinvar_Rec_4094	rs749833026	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000343724	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	tagSNP	rs749833026
Clinvar_Rec_4095	rs537905640	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000308897	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	tagSNP	rs537905640
Clinvar_Rec_4096	rs574848765	Likely benign	Familial erythrocytosis	RCV000277536	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs574848765
Clinvar_Rec_4097	rs183632912	Likely benign	Familial erythrocytosis	RCV000351668	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs183632912
Clinvar_Rec_4098	rs11122280	Uncertain significance	Familial erythrocytosis	RCV000346291	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	LD derived	rs541569859
Clinvar_Rec_4099	rs886046109	Uncertain significance	Familial erythrocytosis	RCV000278796	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs886046109
Clinvar_Rec_4100	rs202067569	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;not provided	RCV000802914;RCV000426808	MedGen;OMIM	C3554638;615181;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs202067569
Clinvar_Rec_4101	rs886046188	Uncertain significance	Hypohidrotic Ectodermal Dysplasia, Recessive	RCV000339894	MedGen	CN239465	criteria provided, single submitter	tagSNP	rs886046188
Clinvar_Rec_4102	rs61740488	Likely benign	Hypohidrotic Ectodermal Dysplasia, Recessive	RCV000369022	MedGen	CN239465	criteria provided, single submitter	tagSNP	rs61740488
Clinvar_Rec_4103	rs61737025	Likely benign	Hypohidrotic Ectodermal Dysplasia, Recessive	RCV000348580	MedGen	CN239465	criteria provided, single submitter	LD derived	rs61736989
Clinvar_Rec_4104	rs1050993	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000270883	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs1050993
Clinvar_Rec_4105	rs886046232	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000277038	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs886046232
Clinvar_Rec_4106	rs886046234	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000338033	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs886046234
Clinvar_Rec_4107	rs886046235	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000373953	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs886046235
Clinvar_Rec_4108	rs886046257	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000370476	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs886046257
Clinvar_Rec_4109	rs886046258	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000261269	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs886046258
Clinvar_Rec_4110	rs1558381908	Likely benign	Cardiomyopathy;not provided	RCV000772855;RCV000930333	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1558381908
Clinvar_Rec_4111	rs121918599	Pathogenic	Catecholaminergic polymorphic ventricular tachycardia type 1	RCV000013822	MedGen;OMIM	C4053736;604772	no assertion criteria provided	tagSNP	rs121918599
Clinvar_Rec_4112	rs374019555	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000704456	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs374019555
Clinvar_Rec_4113	rs886046285	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Catecholaminergic polymorphic ventricular tachycardia	RCV000398810;RCV000349096	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA3286	criteria provided, single submitter	tagSNP	rs886046285
Clinvar_Rec_4114	rs1553551705	Pathogenic	Inborn genetic diseases	RCV000623347	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553551705
Clinvar_Rec_4115	rs567258177	Uncertain significance	Autoimmune lymphoproliferative syndrome	RCV000338431	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	LD derived	rs146233833
Clinvar_Rec_4116	rs13033140	Benign	Autoimmune lymphoproliferative syndrome;not specified	RCV000384413;RCV000454697	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3900115
Clinvar_Rec_4117	rs41331447	Likely benign	Autoimmune lymphoproliferative syndrome	RCV000305355	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	tagSNP	rs41331447
Clinvar_Rec_4118	rs41331447	Likely benign	Autoimmune lymphoproliferative syndrome	RCV000330615	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	LD derived	rs17860409
Clinvar_Rec_4119	rs886055421	Uncertain significance	Autoimmune lymphoproliferative syndrome	RCV000327798	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	tagSNP	rs886055421
Clinvar_Rec_4120	rs6736435	Benign/Likely benign	Joubert syndrome;Joubert syndrome 14;not specified	RCV000268043;RCV000546760;RCV000118635	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;614424;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6736435
Clinvar_Rec_4121	rs11300	Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive	RCV000305695;RCV000360466	MedGen	CN169291;MedGen	criteria provided, single submitter	tagSNP	rs11300
Clinvar_Rec_4122	rs11300	Benign/Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive;not specified	RCV000267099;RCV000322182;RCV000254279	MedGen	CN169291;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3219161
Clinvar_Rec_4123	rs141509107	Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive	RCV000335270;RCV000280255	MedGen	CN169291;MedGen	criteria provided, single submitter	tagSNP	rs141509107
Clinvar_Rec_4124	rs141509107	Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive	RCV000387560;RCV000292159	MedGen	CN169291;MedGen	criteria provided, single submitter	LD derived	rs144613080
Clinvar_Rec_4125	rs141509107	Benign/Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive;not provided	RCV000365254;RCV000310484;RCV000861830	MedGen	CN169291;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114458388
Clinvar_Rec_4126	rs750482532	Uncertain significance	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive	RCV000309519;RCV000366368	MedGen	CN169291;MedGen	criteria provided, single submitter	tagSNP	rs750482532
Clinvar_Rec_4127	rs3219154	Benign/Likely benign	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive;Infantile-onset ascending hereditary spastic paralysis;not specified	RCV000387223;RCV000281155;RCV000459871;RCV000244654	MedGen;OMIM;Orphanet	CN169291;MedGen;607225;ORPHA293168;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3219154
Clinvar_Rec_4128	rs137949180	Uncertain significance	ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive	RCV000374101;RCV000331178	MedGen	CN169291;MedGen	criteria provided, single submitter	tagSNP	rs137949180
Clinvar_Rec_4129	rs886055457	Uncertain significance	Cleft Lip +/- Cleft Palate, Autosomal Dominant	RCV000321100	MedGen	CN239161	criteria provided, single submitter	tagSNP	rs886055457
Clinvar_Rec_4130	rs765887545	Pathogenic	Primary pulmonary hypertension;Pulmonary arterial hypertension	RCV000488855;RCV001003728	MedGen;OMIM;SNOMED CT;MedGen;Orphanet	C4552070;178600;26174007;Human Phenotype Ontology;C2973725;ORPHA182090	no assertion criteria provided	tagSNP	rs765887545
Clinvar_Rec_4131	rs1553512773	Likely benign	Primary pulmonary hypertension	RCV000540635	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs1553512773
Clinvar_Rec_4132	rs1085307382	Pathogenic	Primary pulmonary hypertension	RCV000488718	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307382
Clinvar_Rec_4133	rs1085307383	Pathogenic	Primary pulmonary hypertension	RCV000488870	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307383
Clinvar_Rec_4134	rs1085307389	Pathogenic	Primary pulmonary hypertension	RCV000488466	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307389
Clinvar_Rec_4135	rs1085307391	Pathogenic	Primary pulmonary hypertension	RCV000488755	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307391
Clinvar_Rec_4136	rs1085307390	Pathogenic	Primary pulmonary hypertension	RCV000488569	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307390
Clinvar_Rec_4137	rs1085307392	Pathogenic	Primary pulmonary hypertension	RCV000488461	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307392
Clinvar_Rec_4138	rs1006246556	Pathogenic	Primary pulmonary hypertension	RCV000488612	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1006246556
Clinvar_Rec_4139	rs137852752	Pathogenic	Primary pulmonary hypertension	RCV000009356	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs137852752
Clinvar_Rec_4140	rs1085307400	Pathogenic	Primary pulmonary hypertension	RCV000488862	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307400
Clinvar_Rec_4141	rs769603144	Pathogenic	Primary pulmonary hypertension	RCV000488567	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs769603144
Clinvar_Rec_4142	rs758095913	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000262962;RCV000355346	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs758095913
Clinvar_Rec_4143	rs893253	Benign	Fleck corneal dystrophy	RCV000293929	MedGen;OMIM;Orphanet;SNOMED CT	C1562113;121850;ORPHA98970;417183007	criteria provided, single submitter	tagSNP	rs893253
Clinvar_Rec_4144	rs114709124	Uncertain significance	Brugada syndrome	RCV000279220	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs114709124
Clinvar_Rec_4145	rs886047895	Uncertain significance	Brugada syndrome	RCV000330588	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs886047895
Clinvar_Rec_4146	rs886047898	Uncertain significance	Brugada syndrome	RCV000274119	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs886047898
Clinvar_Rec_4147	rs104894232	Pathogenic	Hydrolethalus syndrome;Hydrolethalus syndrome 1;not provided	RCV000001202;RCV000454127;RCV000802696	MedGen;Orphanet;OMIM	C2931104;ORPHA2189;MedGen;236680;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104894232
Clinvar_Rec_4148	rs200595011	Likely benign	Holoprosencephaly sequence	RCV000382148	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs200595011
Clinvar_Rec_4149	rs200595011	Uncertain significance	Holoprosencephaly sequence	RCV000368383	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	LD derived	rs566390376
Clinvar_Rec_4150	rs1786702	Benign	Mitochondrial complex I deficiency;not provided	RCV000381743;RCV000676596	MedGen	C2936907;MedGen	criteria provided, single submitter	tagSNP	rs1786702
Clinvar_Rec_4151	rs667627	Likely benign	Mitochondrial complex I deficiency	RCV000371864	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs667627
Clinvar_Rec_4152	rs759466399	Likely benign	Hereditary cancer-predisposing syndrome	RCV000166949	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs759466399
Clinvar_Rec_4153	rs876660412	Likely benign	Hereditary cancer-predisposing syndrome	RCV000216448	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660412
Clinvar_Rec_4154	rs786201824	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164311	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201824
Clinvar_Rec_4155	rs876659322	Uncertain significance	Ataxia-telangiectasia-like disorder;Hereditary cancer-predisposing syndrome	RCV000642461;RCV000214472	MedGen;Orphanet;SNOMED CT	C1858391;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659322
Clinvar_Rec_4156	rs774330292	Uncertain significance	Ataxia-telangiectasia-like disorder;Hereditary cancer-predisposing syndrome	RCV000687085;RCV000165274	MedGen;Orphanet;SNOMED CT	C1858391;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs774330292
Clinvar_Rec_4157	rs188151240	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000384099	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs57807625
Clinvar_Rec_4158	rs761585250	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIB	RCV000547250	MedGen;OMIM	C2751092;613115	criteria provided, single submitter	tagSNP	rs761585250
Clinvar_Rec_4159	rs1554014585	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIB	RCV000647305	MedGen;OMIM	C2751092;613115	criteria provided, single submitter	tagSNP	rs1554014585
Clinvar_Rec_4160	rs34432513	Benign/Likely benign	Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	RCV000290526;RCV000020417;RCV000545765;RCV000431969	MedGen;Orphanet;OMIM	C0020072;ORPHA970;MedGen;201300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34432513
Clinvar_Rec_4161	rs162850	Benign	Hereditary sensory and autonomic neuropathy type IIB	RCV000608794	MedGen;OMIM	C2751092;613115	no assertion criteria provided	tagSNP	rs162850
Clinvar_Rec_4162	rs162850	Benign	Hereditary sensory and autonomic neuropathy type II	RCV000292271	MedGen;Orphanet	C0020072;ORPHA970	criteria provided, single submitter	LD derived	rs32147
Clinvar_Rec_4163	rs162850	Benign	Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIB	RCV000360491;RCV000615714	MedGen;Orphanet;OMIM	C0020072;ORPHA970;MedGen;613115	criteria provided, single submitter	LD derived	rs162848
Clinvar_Rec_4164	rs747322175	Conflicting interpretations of pathogenicity	Joubert syndrome 3;not provided	RCV000778779;RCV001009216	MedGen;OMIM	C1837713;608629;MedGen	criteria provided, conflicting interpretations	tagSNP	rs747322175
Clinvar_Rec_4165	rs1887416	Benign	Familial Atypical Mycobacteriosis, Autosomal Recessive	RCV000334839	MedGen	CN239257	criteria provided, single submitter	tagSNP	rs1887416
Clinvar_Rec_4166	rs1554274371	Pathogenic	Inborn genetic diseases	RCV000624266	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554274371
Clinvar_Rec_4167	rs761993070	Pathogenic	Mental retardation, autosomal dominant 43	RCV000225138	MedGen;OMIM	C4310771;616977	no assertion criteria provided	tagSNP	rs761993070
Clinvar_Rec_4168	rs878853269	Pathogenic	Mental retardation, autosomal dominant 43	RCV000225329	MedGen;OMIM	C4310771;616977	no assertion criteria provided	tagSNP	rs878853269
Clinvar_Rec_4169	rs9496891	Benign/Likely benign	Familial hemophagocytic lymphohistiocytosis;not specified	RCV000336838;RCV000244807	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs9496891
Clinvar_Rec_4170	rs551983948	Uncertain significance	Familial hemophagocytic lymphohistiocytosis	RCV000368891	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003	criteria provided, single submitter	tagSNP	rs551983948
Clinvar_Rec_4171	rs79604203	Benign/Likely benign	Seizures;not provided;not specified	RCV000716666;RCV000233325;RCV000116987	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs145030227
Clinvar_Rec_4172	rs1264840627	Uncertain significance	Lafora disease	RCV000768207	MedGen;OMIM;Orphanet;SNOMED CT	C0751783;254780;ORPHA501;230425004	criteria provided, single submitter	tagSNP	rs1264840627
Clinvar_Rec_4173	rs857882	Benign	Lafora disease;Seizures;not provided;not specified	RCV000576867;RCV000715152;RCV000675705;RCV000081322	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0751783;254780;ORPHA501;230425004;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2235482
Clinvar_Rec_4174	rs764231649	Likely benign	Seizures;not provided	RCV000719038;RCV000476998	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764231649
Clinvar_Rec_4175	rs150555245	Conflicting interpretations of pathogenicity	Natural killer cell and glucocorticoid deficiency with DNA repair defect;not provided	RCV000334849;RCV000949742	MedGen;OMIM;Orphanet	C1864947;609981;ORPHA75391;MedGen	criteria provided, conflicting interpretations	LD derived	rs17287656
Clinvar_Rec_4176	rs377579402	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000707722	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs377579402
Clinvar_Rec_4177	rs369402631	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000549280	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs369402631
Clinvar_Rec_4178	rs1563758449	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000702189	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs1563758449
Clinvar_Rec_4179	rs573302015	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000698800	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs573302015
Clinvar_Rec_4180	rs573302015	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000698801	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	LD derived	rs368108772
Clinvar_Rec_4181	rs17287677	Conflicting interpretations of pathogenicity	Natural killer cell and glucocorticoid deficiency with DNA repair defect;not provided	RCV000305168;RCV000884828	MedGen;OMIM;Orphanet	C1864947;609981;ORPHA75391;MedGen	criteria provided, conflicting interpretations	tagSNP	rs17287677
Clinvar_Rec_4182	rs371076039	Uncertain significance	Partial albinism;Waardenburg syndrome	RCV000381494;RCV000324642	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0080024;172800;ORPHA2884;6479008;MedGen;ORPHA3440;47434006	criteria provided, single submitter	tagSNP	rs371076039
Clinvar_Rec_4183	rs370952195	Conflicting interpretations of pathogenicity	Partial albinism;Waardenburg syndrome;not provided;not specified	RCV000397450;RCV000292759;RCV000902509;RCV000825241	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0080024;172800;ORPHA2884;6479008;MedGen;ORPHA3440;47434006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370952195
Clinvar_Rec_4184	rs430514	Benign/Likely benign	Retinitis Pigmentosa, Dominant;not specified	RCV000277987;RCV000153847	MedGen	CN239354;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs444772
Clinvar_Rec_4185	rs430514	Benign/Likely benign	Retinitis Pigmentosa, Dominant;not specified	RCV000325419;RCV000081373	MedGen	CN239354;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs414352
Clinvar_Rec_4186	rs148820865	Uncertain significance	Chondrodysplasia	RCV000393313	MedGen	C0343284	criteria provided, single submitter	tagSNP	rs148820865
Clinvar_Rec_4187	rs886063021	Uncertain significance	Chondrodysplasia	RCV000260191	MedGen	C0343284	criteria provided, single submitter	tagSNP	rs886063021
Clinvar_Rec_4188	rs1047444	Benign	Congenital cataract	RCV000271398	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs1047444
Clinvar_Rec_4189	rs886058553	Uncertain significance	Congenital cataract	RCV000362449	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs886058553
Clinvar_Rec_4190	rs886058555	Uncertain significance	Congenital cataract	RCV000292099	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs886058555
Clinvar_Rec_4191	rs886058558	Uncertain significance	Congenital cataract	RCV000313139	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs886058558
Clinvar_Rec_4192	rs6795530	Conflicting interpretations of pathogenicity	Congenital cataract;not provided	RCV000308472;RCV000872717	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs6795530
Clinvar_Rec_4193	rs148594622	Uncertain significance	Congenital cataract	RCV000266931	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs148594622
Clinvar_Rec_4194	rs150634297	Uncertain significance	Cardiomyopathy;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	RCV000777873;RCV000527113;RCV000148716	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005	criteria provided, multiple submitters, no conflicts	tagSNP	rs150634297
Clinvar_Rec_4195	rs150634297	Likely benign	Cardiomyopathy;not provided;not specified	RCV000777846;RCV000548867;RCV000425146	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs144543453
Clinvar_Rec_4196	rs1553690289	Uncertain significance	Luscan-lumish syndrome	RCV000652624	MedGen;OMIM	C4085873;616831	criteria provided, single submitter	tagSNP	rs1553690289
Clinvar_Rec_4197	rs564476604	Uncertain significance	Luscan-lumish syndrome	RCV000556353	MedGen;OMIM	C4085873;616831	criteria provided, single submitter	tagSNP	rs564476604
Clinvar_Rec_4198	rs371953347	Uncertain significance	Luscan-lumish syndrome	RCV000699289	MedGen;OMIM	C4085873;616831	criteria provided, single submitter	tagSNP	rs371953347
Clinvar_Rec_4199	rs753117350	Uncertain significance	Luscan-lumish syndrome	RCV000526963	MedGen;OMIM	C4085873;616831	criteria provided, single submitter	tagSNP	rs753117350
Clinvar_Rec_4200	rs1060499733	Pathogenic	Abnormality of the cerebral white matter;Autistic disorder of childhood onset;Delayed speech and language development;Global developmental delay;Hearing impairment;Intellectual disability;Microcephaly;Muscular hypotonia of the trunk;NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE;Sleep disturbance;Strabismus	RCV001003584;RCV001003584;RCV000454247;RCV000454247;RCV000454247;RCV001003584;RCV000454247;RCV000454247;RCV000544652;RCV000454247;RCV000454247	Human Phenotype Ontology;MedGen;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;OMIM;MedGen;MedGen	HP;C0948163;Human Phenotype Ontology;C0004352;209850;43614003;Human Phenotype Ontology;C0454644;Human Phenotype Ontology;C0557874;Human Phenotype Ontology;C1384666;Human Phenotype Ontology;C1843367;Human Phenotype Ontology;C4551563;Human Phenotype Ontology;C1853743;MedGen;617804;Human Phenotype Ontology;C0037317;Human Phenotype Ontology;C0038379	criteria provided, single submitter	tagSNP	rs1060499733
Clinvar_Rec_4201	rs182496436	Uncertain significance	Dystrophic epidermolysis bullosa	RCV000335083	MedGen;SNOMED CT	C0079294;254185007	criteria provided, single submitter	LD derived	rs530291076
Clinvar_Rec_4202	rs78408272	Pathogenic	Aicardi Goutieres syndrome 1	RCV000004400	MedGen;OMIM	C0796126;225750	no assertion criteria provided	tagSNP	rs78408272
Clinvar_Rec_4203	rs146524913	Uncertain significance	Aicardi Goutieres syndrome 1;Chilblain lupus erythematosus	RCV000691299;RCV000691299	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0796126;225750;MedGen;ORPHA481662;ORPHA90280;238928005	criteria provided, single submitter	tagSNP	rs146524913
Clinvar_Rec_4204	rs79318303	Pathogenic	Aicardi Goutieres syndrome 1;Aicardi Goutieres syndrome 1;Chilblain Lupus	RCV000114334;RCV000805420;RCV000805420	MedGen;OMIM;OMIM	C0796126;225750;MedGen;225750;MedGen	criteria provided, single submitter	tagSNP	rs79318303
Clinvar_Rec_4205	rs761592627	Uncertain significance	Dystrophic epidermolysis bullosa	RCV000329516	MedGen;SNOMED CT	C0079294;254185007	criteria provided, single submitter	tagSNP	rs761592627
Clinvar_Rec_4206	rs61729240	Likely benign	Dystrophic epidermolysis bullosa	RCV000277697	MedGen;SNOMED CT	C0079294;254185007	criteria provided, single submitter	LD derived	rs7637885
Clinvar_Rec_4207	rs368937335	Uncertain significance	Carnitine acylcarnitine translocase deficiency	RCV000288401	MedGen;OMIM;Orphanet;SNOMED CT	C0342791;212138;ORPHA159;238003000	criteria provided, single submitter	tagSNP	rs368937335
Clinvar_Rec_4208	rs770135555	Uncertain significance	Carnitine acylcarnitine translocase deficiency	RCV000345677	MedGen;OMIM;Orphanet;SNOMED CT	C0342791;212138;ORPHA159;238003000	criteria provided, single submitter	tagSNP	rs770135555
Clinvar_Rec_4209	rs201449510	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000700025;RCV000700025	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	LD derived	rs149653966
Clinvar_Rec_4210	rs121918135	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	RCV000000451	MedGen;OMIM	C4748790;618240	no assertion criteria provided	tagSNP	rs121918135
Clinvar_Rec_4211	rs185476065	Likely pathogenic	Cortical visual impairment;Heterotopia;Hypoplasia of the corpus callosum;Impaired use of nonverbal behaviors;Insomnia;Microcephaly;Profound global developmental delay;Seizures;Short foot;Small hand;Strabismus	RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295	Human Phenotype Ontology;MedGen;Orphanet;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C4048268;ORPHA447788;Human Phenotype Ontology;C0008519;Human Phenotype Ontology;C0344482;Human Phenotype Ontology;C4021798;Human Phenotype Ontology;C0917801;Human Phenotype Ontology;C4551563;Human Phenotype Ontology;C3553450;Human Phenotype Ontology;C0036572;Human Phenotype Ontology;C1848673;Human Phenotype Ontology;C0575802;Human Phenotype Ontology;C0038379	criteria provided, single submitter	tagSNP	rs185476065
Clinvar_Rec_4212	rs761251190	Likely benign	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	RCV000474903	MedGen;OMIM;Orphanet	C4014239;615760;ORPHA404437	criteria provided, single submitter	tagSNP	rs761251190
Clinvar_Rec_4213	rs754699919	Uncertain significance	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	RCV000655187	MedGen;OMIM;Orphanet	C4014239;615760;ORPHA404437	criteria provided, single submitter	tagSNP	rs754699919
Clinvar_Rec_4214	rs200703354	Uncertain significance	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	RCV000462966	MedGen;OMIM;Orphanet	C4014239;615760;ORPHA404437	criteria provided, single submitter	tagSNP	rs200703354
Clinvar_Rec_4215	rs543031691	Uncertain significance	Nephrotic syndrome;Pierson syndrome	RCV000284173;RCV000378625	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0027726;52254009;MedGen;609049;ORPHA2670	criteria provided, single submitter	LD derived	rs201289156
Clinvar_Rec_4216	rs777643155	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000532554;RCV000532554	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	tagSNP	rs777643155
Clinvar_Rec_4217	rs769399002	Pathogenic	Nephrotic syndrome, type 5, with or without ocular abnormalities	RCV000015637	MedGen;OMIM;Orphanet	C3280113;614199;ORPHA306507	no assertion criteria provided	tagSNP	rs769399002
Clinvar_Rec_4218	rs771769006	Uncertain significance	Nephrotic syndrome;Pierson syndrome	RCV000315442;RCV000363101	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0027726;52254009;MedGen;609049;ORPHA2670	criteria provided, single submitter	tagSNP	rs771769006
Clinvar_Rec_4219	rs202083663	Uncertain significance	Nephrotic syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;Pierson syndrome	RCV000361384;RCV000649521;RCV000266674;RCV000649521	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0027726;52254009;MedGen;614199;ORPHA306507;MedGen;609049;ORPHA2670;MedGen;609049;ORPHA2670	criteria provided, multiple submitters, no conflicts	LD derived	rs199570781
Clinvar_Rec_4220	rs774234171	Uncertain significance	Nephrotic syndrome;Pierson syndrome	RCV000361200;RCV000304046	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0027726;52254009;MedGen;609049;ORPHA2670	criteria provided, single submitter	tagSNP	rs774234171
Clinvar_Rec_4221	rs200732790	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000700025;RCV000700025	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	LD derived	rs149653966
Clinvar_Rec_4222	rs200732790	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided;not specified	RCV000704955;RCV000704955;RCV000725241;RCV000390758	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs199894361
Clinvar_Rec_4223	rs114057053	Uncertain significance	Non-ketotic hyperglycinemia	RCV000308824	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs114057053
Clinvar_Rec_4224	rs1553652503	Pathogenic	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	RCV000648792;RCV000648792	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997	criteria provided, single submitter	tagSNP	rs1553652503
Clinvar_Rec_4225	rs1553652513	Likely pathogenic	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	RCV000533805;RCV000533805	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997	criteria provided, single submitter	tagSNP	rs1553652513
Clinvar_Rec_4226	rs148238809	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	RCV000688576;RCV000688576	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997	criteria provided, single submitter	tagSNP	rs148238809
Clinvar_Rec_4227	rs1559581311	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided	RCV000686727;RCV000686727;RCV000730208	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1559581311
Clinvar_Rec_4228	rs554879370	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided;not specified	RCV000704955;RCV000704955;RCV000725241;RCV000390758	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs199894361
Clinvar_Rec_4229	rs72932925	Benign	Congenital Stationary Night Blindness, Dominant	RCV000322293	MedGen	CN239263	criteria provided, single submitter	LD derived	rs7611074
Clinvar_Rec_4230	rs781838448	Uncertain significance	Deficiency of hyaluronoglucosaminidase	RCV000314860	MedGen;OMIM;Orphanet;SNOMED CT	C1291490;601492;ORPHA67041;124473006	criteria provided, single submitter	tagSNP	rs781838448
Clinvar_Rec_4231	rs76335415	Benign/Likely benign	Deficiency of hyaluronoglucosaminidase;not provided	RCV000366868;RCV000960518	MedGen;OMIM;Orphanet;SNOMED CT	C1291490;601492;ORPHA67041;124473006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116097974
Clinvar_Rec_4232	rs76335415	Benign/Likely benign	Deficiency of hyaluronoglucosaminidase;not provided	RCV000274618;RCV000960519	MedGen;OMIM;Orphanet;SNOMED CT	C1291490;601492;ORPHA67041;124473006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74342080
Clinvar_Rec_4233	rs1057522124	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575408;RCV000870290;RCV000443649	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522124
Clinvar_Rec_4234	rs923614321	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584563	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs923614321
Clinvar_Rec_4235	rs144172190	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000566252;RCV000554337	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs144172190
Clinvar_Rec_4236	rs780338105	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000649776	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	tagSNP	rs780338105
Clinvar_Rec_4237	rs755664216	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000553151	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs755664216
Clinvar_Rec_4238	rs755664216	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572408	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs755664216
Clinvar_Rec_4239	rs747109385	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000771524;RCV000649767	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs747109385
Clinvar_Rec_4240	rs1449536422	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581956	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1449536422
Clinvar_Rec_4241	rs1268207501	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573219	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1268207501
Clinvar_Rec_4242	rs373809972	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV001017492;RCV000531456	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs373809972
Clinvar_Rec_4243	rs768628467	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583152	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768628467
Clinvar_Rec_4244	rs1559588683	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773500	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1559588683
Clinvar_Rec_4245	rs1553645470	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000570922;RCV000804089	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553645470
Clinvar_Rec_4246	rs770969452	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773611	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs770969452
Clinvar_Rec_4247	rs769338697	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000580832;RCV000802225	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs769338697
Clinvar_Rec_4248	rs577001812	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000694508	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	LD derived	rs546888007
Clinvar_Rec_4249	rs886058723	Uncertain significance	Congenital disorder of glycosylation	RCV000366867	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886058723
Clinvar_Rec_4250	rs11242	Benign	Congenital disorder of glycosylation;not specified	RCV000353816;RCV000082329	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11242
Clinvar_Rec_4251	rs1553677971	Likely pathogenic	Robinow syndrome, autosomal dominant 1	RCV000577882	MedGen;OMIM;Orphanet	C4551475;180700;ORPHA97360	criteria provided, single submitter	tagSNP	rs1553677971
Clinvar_Rec_4252	rs886058756	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000277475	MedGen	CN239400	criteria provided, single submitter	tagSNP	rs886058756
Clinvar_Rec_4253	rs532390858	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000332536	MedGen	CN239400	criteria provided, single submitter	tagSNP	rs532390858
Clinvar_Rec_4254	rs886058757	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000274178	MedGen	CN239400	criteria provided, single submitter	tagSNP	rs886058757
Clinvar_Rec_4255	rs145036794	Uncertain significance	Atelosteogenesis type 1;Boomerang dysplasia;Larsen syndrome, dominant type;Spondylocarpotarsal synostosis syndrome;not provided;not specified	RCV000765752;RCV000765752;RCV000765752;RCV000765752;RCV000726545;RCV000238833	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	C0265283;108720;ORPHA1190;MedGen;112310;ORPHA1263;254054000;MedGen;150250;MedGen;272460;ORPHA3275;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145036794
Clinvar_Rec_4256	rs1522384	Benign/Likely benign	FLNB-Related Spectrum Disorders;not specified	RCV000367630;RCV000248165	MedGen	CN239400;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1522384
Clinvar_Rec_4257	rs886058767	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000264147	MedGen	CN239400	criteria provided, single submitter	tagSNP	rs886058767
Clinvar_Rec_4258	rs144165782	Likely benign	FLNB-Related Spectrum Disorders;not provided;not specified	RCV000349068;RCV000915285;RCV000614336	MedGen	CN239400;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200993986
Clinvar_Rec_4259	rs886058776	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000383168	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs886058776
Clinvar_Rec_4260	rs779577082	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000401924	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs779577082
Clinvar_Rec_4261	rs28935769	Pathogenic	Pyruvate dehydrogenase E1-beta deficiency	RCV000014076	MedGen;OMIM;Orphanet	C3279841;614111;ORPHA255138	no assertion criteria provided	tagSNP	rs28935769
Clinvar_Rec_4262	rs886058779	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000275103	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs886058779
Clinvar_Rec_4263	rs35998138	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;not provided;not specified	RCV000030557;RCV000244076;RCV000343166;RCV000467116;RCV000037754	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35998138
Clinvar_Rec_4264	rs35998138	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;not provided;not specified	RCV000030558;RCV000249431;RCV000365264;RCV000463882;RCV000037756	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35645287
Clinvar_Rec_4265	rs35998138	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;not provided;not specified	RCV000030556;RCV000253577;RCV000265643;RCV000458709;RCV000037742	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35761089
Clinvar_Rec_4266	rs780719278	Uncertain significance	Dilated Cardiomyopathy, Dominant;not provided	RCV000369310;RCV000492839	MedGen	CN239310;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780719278
Clinvar_Rec_4267	rs747786976	Uncertain significance	Cardiovascular phenotype	RCV000619921	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs747786976
Clinvar_Rec_4268	rs541571206	Uncertain significance	Dilated Cardiomyopathy, Dominant	RCV000298814	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs541571206
Clinvar_Rec_4269	rs886049919	Uncertain significance	Mitochondrial phosphate carrier deficiency	RCV000394919	MedGen;OMIM;Orphanet	C1835845;610773;ORPHA91130	criteria provided, single submitter	tagSNP	rs886049919
Clinvar_Rec_4270	rs201625604	Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000618117;RCV000468859;RCV000608446	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138388686
Clinvar_Rec_4271	rs151335692	Likely benign	History of neurodevelopmental disorder	RCV000719896	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs151335692
Clinvar_Rec_4272	rs11195199	Benign	Cornelia de Lange Syndrome;not specified	RCV000280036;RCV000147602	MedGen	CN239271;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11195199
Clinvar_Rec_4273	rs147404470	Benign/Likely benign	Cornelia de Lange Syndrome;History of neurodevelopmental disorder;not provided;not specified	RCV000392118;RCV000715500;RCV000871283;RCV000147581	MedGen	CN239271;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147404470
Clinvar_Rec_4274	rs201162818	Likely benign	Cornelia de Lange Syndrome	RCV000307193	MedGen	CN239271	criteria provided, single submitter	tagSNP	rs201162818
Clinvar_Rec_4275	rs569847844	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1DD	RCV000621789;RCV000802264	MedGen;OMIM	CN230736;MedGen;613172	criteria provided, multiple submitters, no conflicts	LD derived	rs573426783
Clinvar_Rec_4276	rs199611616	Uncertain significance	Cornelia de Lange Syndrome	RCV000284943	MedGen	CN239271	criteria provided, single submitter	tagSNP	rs199611616
Clinvar_Rec_4277	rs727504583	Uncertain significance	Dilated cardiomyopathy 1DD;not specified	RCV000458254;RCV000155756	MedGen;OMIM	C2750995;613172;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727504583
Clinvar_Rec_4278	rs397516621	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000770274;RCV000724064;RCV000036996	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397516621
Clinvar_Rec_4279	rs183130427	Uncertain significance	Dilated cardiomyopathy 1DD;not specified	RCV000543574;RCV000036998	MedGen;OMIM	C2750995;613172;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs183130427
Clinvar_Rec_4280	rs183130427	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000852628;RCV000620938;RCV000723940;RCV000036999	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs183130427
Clinvar_Rec_4281	rs397516606	Uncertain significance	Dilated cardiomyopathy 1DD;not provided;not specified	RCV000230287;RCV000766695;RCV000036972	MedGen;OMIM	C2750995;613172;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516606
Clinvar_Rec_4282	rs1554843534	Uncertain significance	Cardiovascular phenotype	RCV000620771	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554843534
Clinvar_Rec_4283	rs1554843535	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000647177	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs1554843535
Clinvar_Rec_4284	rs147431196	Benign/Likely benign	Noonan syndrome-like disorder with loose anagen hair 1;not specified	RCV000356842;RCV000128040	MedGen;OMIM	C4478716;607721;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201258692
Clinvar_Rec_4285	rs147431196	Benign	Noonan syndrome-like disorder with loose anagen hair 1	RCV000273285	MedGen;OMIM	C4478716;607721	criteria provided, single submitter	LD derived	rs371721188
Clinvar_Rec_4286	rs397517231	Benign	Rasopathy;not provided;not specified	RCV000518991;RCV000680308;RCV000038777	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs397517231
Clinvar_Rec_4287	rs138375593	Likely benign	Rasopathy	RCV000523425	MedGen;Orphanet	CN166718;ORPHA536391	reviewed by expert panel	tagSNP	rs138375593
Clinvar_Rec_4288	rs768411950	Likely benign	Rasopathy	RCV000521093	MedGen;Orphanet	CN166718;ORPHA536391	reviewed by expert panel	tagSNP	rs768411950
Clinvar_Rec_4289	rs773817796	Likely benign	Rasopathy	RCV000655015	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs773817796
Clinvar_Rec_4290	rs199723694	Benign	Rasopathy;not provided	RCV000522909;RCV000873491	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs199723694
Clinvar_Rec_4291	rs1564732203	Uncertain significance	Rasopathy	RCV000689572	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs1564732203
Clinvar_Rec_4292	rs33944494	Benign	Rasopathy;not provided;not specified	RCV000459744;RCV000680309;RCV000128042	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	LD derived	rs146147503
Clinvar_Rec_4293	rs766084373	Likely benign	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related	RCV000648850;RCV000648850	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340	criteria provided, single submitter	tagSNP	rs766084373
Clinvar_Rec_4294	rs376832654	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related;not provided	RCV000459569;RCV000459569;RCV000183320	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376832654
Clinvar_Rec_4295	rs876657745	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related	RCV000648841;RCV000648841	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340	criteria provided, single submitter	tagSNP	rs876657745
Clinvar_Rec_4296	rs876657745	Uncertain significance	Familial dilated cardiomyopathy;not provided;not specified	RCV000622634;RCV000788870;RCV000214504	MedGen;Orphanet	C0340427;ORPHA217607;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876657745
Clinvar_Rec_4297	rs201181493	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related;not provided	RCV001050142;RCV001050142;RCV000171881	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201181493
Clinvar_Rec_4298	rs1060502815	Likely pathogenic	Dilated cardiomyopathy 1HH	RCV000474654	MedGen;OMIM	C3151293;613881	criteria provided, single submitter	tagSNP	rs1060502815
Clinvar_Rec_4299	rs147277075	Uncertain significance	Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant	RCV000306231;RCV000402177	MedGen	CN239310;MedGen	criteria provided, single submitter	tagSNP	rs147277075
Clinvar_Rec_4300	rs147277075	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000620374;RCV000476632;RCV000420165	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147277075
Clinvar_Rec_4301	rs1554877837	Likely benign	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related	RCV000648855;RCV000648855	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340	criteria provided, single submitter	tagSNP	rs1554877837
Clinvar_Rec_4302	rs1407009048	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related	RCV000692627;RCV000692627	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340	criteria provided, single submitter	tagSNP	rs1407009048
Clinvar_Rec_4303	rs148967962	Likely benign	Dilated Cardiomyopathy, Dominant;Myofibrillar Myopathy, Dominant	RCV000369244;RCV000277128	MedGen	CN239310;MedGen	criteria provided, single submitter	tagSNP	rs148967962
Clinvar_Rec_4304	rs782396522	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000719485;RCV000870602	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs782396522
Clinvar_Rec_4305	rs61758732	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717266;RCV000467336;RCV000120187	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61758732
Clinvar_Rec_4306	rs1569538665	Uncertain significance	Mental retardation-hypotonic facies syndrome X-linked, 1	RCV000723307	MedGen;OMIM;Orphanet	C0796003;309580;ORPHA93972	no assertion criteria provided	tagSNP	rs1569538665
Clinvar_Rec_4307	rs1557139920	Uncertain significance	Inborn genetic diseases	RCV000623433	MeSH;MedGen	D030342;C0950123	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557139920
Clinvar_Rec_4308	rs929951326	Uncertain significance	History of neurodevelopmental disorder;not provided	RCV000717094;RCV000520365	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs929951326
Clinvar_Rec_4309	rs1287383551	Likely pathogenic	Metastatic pancreatic neuroendocrine tumours	RCV000515530	-	-	no assertion criteria provided	tagSNP	rs1287383551
Clinvar_Rec_4310	rs782774219	Uncertain significance	Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;Inborn genetic diseases;Menkes kinky-hair syndrome	RCV000687489;RCV000687489;RCV000624547;RCV000687489	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT	C0268353;304150;ORPHA198;59399004;MedGen;300489;ORPHA139557;MeSH;C0950123;MedGen;309400;ORPHA565;59178007	criteria provided, multiple submitters, no conflicts	tagSNP	rs782774219
Clinvar_Rec_4311	rs1557239147	Uncertain significance	Cutis laxa, X-linked;Distal spinal muscular atrophy, X-linked 3;Menkes kinky-hair syndrome	RCV000553520;RCV000553520;RCV000553520	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0268353;304150;ORPHA198;59399004;MedGen;300489;ORPHA139557;MedGen;309400;ORPHA565;59178007	criteria provided, single submitter	tagSNP	rs1557239147
Clinvar_Rec_4312	rs782799150	Uncertain significance	History of neurodevelopmental disorder	RCV000717324	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs782799150
Clinvar_Rec_4313	rs138675194	Benign/Likely benign	History of neurodevelopmental disorder;Non-syndromic X-linked intellectual disability;not provided	RCV000720953;RCV000318436;RCV000895705	MedGen;Orphanet	C2711754;MedGen;ORPHA777;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138675194
Clinvar_Rec_4314	rs9530	Benign	Mucopolysaccharidosis type 7;not provided;not specified	RCV000394365;RCV000675829;RCV000078327	MedGen;OMIM;Orphanet	C0085132;253220;ORPHA584;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs9530
Clinvar_Rec_4315	rs752100894	Likely pathogenic	Argininosuccinate lyase deficiency	RCV000673369	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004	criteria provided, single submitter	tagSNP	rs752100894
Clinvar_Rec_4316	rs62465484	Likely benign	Mucopolysaccharidosis type 7	RCV000390830	MedGen;OMIM;Orphanet	C0085132;253220;ORPHA584	criteria provided, single submitter	LD derived	rs2279904
Clinvar_Rec_4317	rs62465484	Likely benign	Progressive myoclonic epilepsy	RCV000297291	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs4718382
Clinvar_Rec_4318	rs62465484	Likely benign	Progressive myoclonic epilepsy	RCV000279549	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs17229513
Clinvar_Rec_4319	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000323024	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791712
Clinvar_Rec_4320	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000361429	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs9791713
Clinvar_Rec_4321	rs6947339	Benign	Progressive myoclonic epilepsy	RCV000266102	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs1860469
Clinvar_Rec_4322	rs200652879	Likely pathogenic	Inborn genetic diseases	RCV000623155	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs200652879
Clinvar_Rec_4323	rs1554300955	Uncertain significance	Epilepsy, progressive myoclonic 3	RCV000527506	MedGen;OMIM;Orphanet	C2673257;611726;ORPHA263516	criteria provided, single submitter	tagSNP	rs1554300955
Clinvar_Rec_4324	rs387907261	Pathogenic	Epilepsy, progressive myoclonic 3	RCV000030688	MedGen;OMIM;Orphanet	C2673257;611726;ORPHA263516	no assertion criteria provided	tagSNP	rs387907261
Clinvar_Rec_4325	rs73702140	Likely benign	Progressive myoclonic epilepsy	RCV000345899	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs73702140
Clinvar_Rec_4326	rs539096901	Likely benign	Cutis laxa, autosomal dominant;Supravalvar aortic stenosis	RCV000332419;RCV000260805	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0268350;ORPHA90348;111388003;Human Phenotype Ontology;C0003499;185500;ORPHA3193;268185002	criteria provided, single submitter	tagSNP	rs539096901
Clinvar_Rec_4327	rs377389746	Uncertain significance	Charcot-Marie-Tooth, Intermediate	RCV000274803	MedGen	CN239334	criteria provided, single submitter	LD derived	rs113748028
Clinvar_Rec_4328	rs377389746	Uncertain significance	Charcot-Marie-Tooth, Intermediate	RCV000320383	MedGen	CN239334	criteria provided, single submitter	LD derived	rs112104823
Clinvar_Rec_4329	rs137853206	Pathogenic	Reticular dysgenesis	RCV000019914	MedGen;OMIM;Orphanet;SNOMED CT	C0272167;267500;ORPHA33355;111584000	no assertion criteria provided	tagSNP	rs137853206
Clinvar_Rec_4330	rs41266429	Benign	Erythrokeratodermia variabilis et progressiva 1;Nonsyndromic Hearing Loss, Dominant	RCV000264955;RCV000384829	MedGen;OMIM;Orphanet	C4551486;133200;ORPHA495;MedGen	criteria provided, single submitter	tagSNP	rs41266429
Clinvar_Rec_4331	rs78145978	Likely benign	Erythrokeratodermia variabilis et progressiva 1;Nonsyndromic Hearing Loss, Dominant	RCV000402777;RCV000307818	MedGen;OMIM;Orphanet	C4551486;133200;ORPHA495;MedGen	criteria provided, single submitter	tagSNP	rs78145978
Clinvar_Rec_4332	rs553963794	Uncertain significance	Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive	RCV000271649;RCV000325416	MedGen	CN043640;MedGen	criteria provided, single submitter	tagSNP	rs553963794
Clinvar_Rec_4333	rs1553143142	Pathogenic	Osteogenesis imperfecta type 8	RCV000625827	MedGen;OMIM	C1970458;610915	criteria provided, single submitter	tagSNP	rs1553143142
Clinvar_Rec_4334	rs116589411	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000718252;RCV000457829;RCV000081428	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75485205
Clinvar_Rec_4335	rs587784394	Conflicting interpretations of pathogenicity	Dystonia;GLUT1 deficiency syndrome 1;not specified	RCV000274920;RCV000147529;RCV000614539	Human Phenotype Ontology;MedGen;OMIM	HP;C0013421;MedGen;606777;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587784394
Clinvar_Rec_4336	rs1557651193	Uncertain significance	Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;Stomatin-deficient cryohydrocytosis with neurologic defects	RCV000768090;RCV000768090;RCV000768090;RCV000768090;RCV000768090	MedGen;OMIM;Orphanet;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1832855;601042;ORPHA53583;MedGen;614847;MedGen;606777;MedGen;612126;ORPHA98811;MedGen;608885;ORPHA168577	criteria provided, single submitter	tagSNP	rs1557651193
Clinvar_Rec_4337	rs143085991	Uncertain significance	Seizures;not provided	RCV000720620;RCV000713751	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140427193
Clinvar_Rec_4338	rs139142845	Likely benign	Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 1	RCV000353508;RCV000301049	MedGen;OMIM;Orphanet;MedGen;OMIM	C1327915;604498;ORPHA3319;MeSH;C3277671;187950	criteria provided, single submitter	LD derived	rs185654501
Clinvar_Rec_4339	rs139142845	Benign/Likely benign	Seizures;not provided	RCV000717127;RCV000514276	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139486476
Clinvar_Rec_4340	rs7572167	Benign/Likely benign	Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome;not specified	RCV000329579;RCV000362713;RCV000613733	MedGen;Orphanet;SNOMED CT;Orphanet	CN119432;ORPHA1515;254093009;MedGen;ORPHA1505;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28502265
Clinvar_Rec_4341	rs12613209	Benign/Likely benign	Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome;not specified	RCV000329579;RCV000362713;RCV000613733	MedGen;Orphanet;SNOMED CT;Orphanet	CN119432;ORPHA1515;254093009;MedGen;ORPHA1505;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28502265
Clinvar_Rec_4342	rs561408445	Uncertain significance	Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome	RCV000358055;RCV000303155	MedGen;Orphanet;SNOMED CT;Orphanet	CN119432;ORPHA1515;254093009;MedGen;ORPHA1505	criteria provided, single submitter	LD derived	rs190700326
Clinvar_Rec_4343	rs767091894	Uncertain significance	Familial hypercholesterolemia	RCV000775307	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs767091894
Clinvar_Rec_4344	rs72654423	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;not provided;not specified	RCV000771078;RCV000239033;RCV000758756;RCV000597586	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72654423
Clinvar_Rec_4345	rs765681925	Uncertain significance	Familial hypercholesterolemia 1	RCV000286012	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs765681925
Clinvar_Rec_4346	rs765681925	Uncertain significance	Familial hypercholesterolemia 1;Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000660665;RCV000655090;RCV000655090	MedGen;OMIM;SNOMED CT;OMIM;OMIM	C0745103;143890;397915002;MedGen;144010;MedGen;615558	criteria provided, multiple submitters, no conflicts	tagSNP	rs765681925
Clinvar_Rec_4347	rs776875782	Uncertain significance	Familial hypercholesterolemia	RCV000775435	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs776875782
Clinvar_Rec_4348	rs764635907	Likely benign	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000655159;RCV000655159	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs764635907
Clinvar_Rec_4349	rs587776852	Pathogenic	Familial hypobetalipoproteinemia	RCV000019485	MedGen;Orphanet;SNOMED CT	C1862596;ORPHA426;60193003	no assertion criteria provided	tagSNP	rs587776852
Clinvar_Rec_4350	rs1060500239	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000475903;RCV000475903	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs1060500239
Clinvar_Rec_4351	rs140647761	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000459984;RCV000459984	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	LD derived	rs558304720
Clinvar_Rec_4352	rs1553383038	Uncertain significance	Familial hypercholesterolemia 1	RCV000627173	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1553383038
Clinvar_Rec_4353	rs148951610	Likely benign	Familial hypercholesterolemia	RCV000775476	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs148951610
Clinvar_Rec_4354	rs72653098	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia;not provided	RCV000776134;RCV000349319;RCV000405202;RCV000461766	MedGen;SNOMED CT;OMIM;SNOMED CT;Orphanet;SNOMED CT	C0020445;398036000;MedGen;143890;397915002;MedGen;ORPHA426;60193003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72653098
Clinvar_Rec_4355	rs765899256	Benign/Likely benign	Familial hypercholesterolemia;Familial hypercholesterolemia 1;not provided	RCV000771237;RCV000584616;RCV000869986	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765899256
Clinvar_Rec_4356	rs763285729	Likely benign	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000655117;RCV000655117	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs763285729
Clinvar_Rec_4357	rs138497378	Likely benign	Familial hypercholesterolemia;not provided	RCV000771226;RCV000229688	MedGen;SNOMED CT	C0020445;398036000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138497378
Clinvar_Rec_4358	rs375855688	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000687027;RCV000687027	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs375855688
Clinvar_Rec_4359	rs1553383649	Uncertain significance	Familial hypercholesterolemia 1	RCV000660695	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1553383649
Clinvar_Rec_4360	rs556582055	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000459984;RCV000459984	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	LD derived	rs558304720
Clinvar_Rec_4361	rs778618250	Uncertain significance	Familial hypercholesterolemia	RCV000775509	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs778618250
Clinvar_Rec_4362	rs533617	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1;not specified	RCV000771060;RCV000202968;RCV000458118;RCV000458118;RCV000116387	MedGen;SNOMED CT;OMIM;SNOMED CT;OMIM;OMIM	C0020445;398036000;MedGen;143890;397915002;MedGen;144010;MedGen;615558;MedGen	criteria provided, conflicting interpretations	tagSNP	rs533617
Clinvar_Rec_4363	rs754597311	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia;not provided	RCV000282291;RCV000334945;RCV000864754	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT	C0745103;143890;397915002;MedGen;ORPHA426;60193003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs754597311
Clinvar_Rec_4364	rs539549041	Uncertain significance	LCHAD Deficiency;Mitochondrial trifunctional protein deficiency	RCV000299877;RCV000357972	MedGen;OMIM;Orphanet;SNOMED CT	CN239369;MedGen;609015;ORPHA746;237999008	criteria provided, single submitter	tagSNP	rs539549041
Clinvar_Rec_4365	rs1553311645	Likely pathogenic	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	RCV000669417	MedGen;OMIM;Orphanet	C3711645;609016;ORPHA5	criteria provided, single submitter	tagSNP	rs1553311645
Clinvar_Rec_4366	rs1553311698	Uncertain significance	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	RCV000673205	MedGen;OMIM;Orphanet	C3711645;609016;ORPHA5	criteria provided, single submitter	tagSNP	rs1553311698
Clinvar_Rec_4367	rs769580842	Pathogenic/Likely pathogenic	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	RCV000169337;RCV001041924;RCV001041924	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C3711645;609016;ORPHA5;MedGen;609016;ORPHA5;MedGen;609015;ORPHA746;237999008	criteria provided, multiple submitters, no conflicts	tagSNP	rs769580842
Clinvar_Rec_4368	rs3839049	Benign	Mitochondrial trifunctional protein deficiency;not provided;not specified	RCV000270663;RCV000144492;RCV000078340	MedGen;OMIM;Orphanet;SNOMED CT	C1969443;609015;ORPHA746;237999008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3839049
Clinvar_Rec_4369	rs1558357879	Likely pathogenic	HADHA-Related Disorders	RCV000779320	-	-	criteria provided, single submitter	tagSNP	rs1558357879
Clinvar_Rec_4370	rs866206271	Uncertain significance	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome, hepatocerebral form	RCV000369855;RCV000315410	MedGen;Orphanet;Orphanet	C0342782;ORPHA35698;MedGen;ORPHA254871	criteria provided, single submitter	tagSNP	rs866206271
Clinvar_Rec_4371	rs886055895	Uncertain significance	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome, hepatocerebral form	RCV000384728;RCV000271826	MedGen;Orphanet;Orphanet	C0342782;ORPHA35698;MedGen;ORPHA254871	criteria provided, single submitter	tagSNP	rs886055895
Clinvar_Rec_4372	rs121909722	Pathogenic	Navajo neurohepatopathy	RCV000017544	MedGen;OMIM;Orphanet	C1850406;256810;ORPHA255229	no assertion criteria provided	tagSNP	rs121909722
Clinvar_Rec_4373	rs575558175	Uncertain significance	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome, hepatocerebral form	RCV000405655;RCV000348274	MedGen;Orphanet;Orphanet	C0342782;ORPHA35698;MedGen;ORPHA254871	criteria provided, single submitter	tagSNP	rs575558175
Clinvar_Rec_4374	rs777604559	Pathogenic/Likely pathogenic	Navajo neurohepatopathy;not provided	RCV000660561;RCV000196385	MedGen;OMIM;Orphanet	C1850406;256810;ORPHA255229;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs777604559
Clinvar_Rec_4375	rs886055905	Uncertain significance	Leukoencephalopathy with vanishing white matter	RCV000260246	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	tagSNP	rs886055905
Clinvar_Rec_4376	rs886055906	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000275384	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886055906
Clinvar_Rec_4377	rs374110410	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000297138	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs374110410
Clinvar_Rec_4378	rs1881422	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Neuroblastoma Susceptibility;not provided;not specified	RCV000575366;RCV000279840;RCV000590798;RCV000612129	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1881422
Clinvar_Rec_4379	rs1881422	Likely benign	Neuroblastoma Susceptibility	RCV000308376	MedGen	CN239480	criteria provided, single submitter	LD derived	rs74669215
Clinvar_Rec_4380	rs372282092	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000325859	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs372282092
Clinvar_Rec_4381	rs144848373	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000360786	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs144848373
Clinvar_Rec_4382	rs931730154	Uncertain significance	Dilated cardiomyopathy 1II	RCV000537892	MedGen;OMIM	C3554649;615184	criteria provided, single submitter	tagSNP	rs931730154
Clinvar_Rec_4383	rs534753	Likely benign	Pyruvate dehydrogenase complex deficiency	RCV000311479	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs534753
Clinvar_Rec_4384	rs587672824	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Hereditary cancer-predisposing syndrome;Paragangliomas 1;Pheochromocytoma	RCV001068604;RCV001068604;RCV000575014;RCV001068604;RCV001068604	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;ORPHA140162;699346009;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	LD derived	rs561759202
Clinvar_Rec_4385	rs757760280	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000387829	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs757760280
Clinvar_Rec_4386	rs1555186656	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000548876;RCV000548876;RCV000548876;RCV000548876	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1555186656
Clinvar_Rec_4387	rs1555186657	Likely benign	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000547362;RCV000547362;RCV000547362;RCV000547362	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1555186657
Clinvar_Rec_4388	rs541477171	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000537294;RCV000537294;RCV000537294;RCV000537294	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs541477171
Clinvar_Rec_4389	rs541477171	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000641049;RCV000641049;RCV000641049;RCV000641049	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs541477171
Clinvar_Rec_4390	rs80338843	Pathogenic	Carney-Stratakis syndrome;Cowden syndrome 3;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 1;Paragangliomas 1;Pheochromocytoma;Pheochromocytoma;not provided	RCV000227867;RCV000227867;RCV000020518;RCV000492087;RCV000007296;RCV000227867;RCV000007297;RCV000227867;RCV000486967	MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT;OMIM;OMIM;MedGen;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;ORPHA29072;MedGen;ORPHA140162;699346009;MedGen;168000;MedGen;168000;Human Phenotype Ontology;C0031511;171300;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80338843
Clinvar_Rec_4391	rs1555186981	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000559420;RCV000559420;RCV000559420;RCV000559420	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1555186981
Clinvar_Rec_4392	rs80338845	Pathogenic	Carney-Stratakis syndrome;Cowden syndrome 3;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 1;Paragangliomas 1;Pheochromocytoma;Pheochromocytoma	RCV000791429;RCV000791429;RCV000020520;RCV000567104;RCV000007305;RCV000791429;RCV000007306;RCV000791429	MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT;OMIM;OMIM;MedGen;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;ORPHA29072;MedGen;ORPHA140162;699346009;MedGen;168000;MedGen;168000;Human Phenotype Ontology;C0031511;171300;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs80338845
Clinvar_Rec_4393	rs786205436	Conflicting interpretations of pathogenicity	Carney-Stratakis syndrome;Cowden syndrome 3;Hereditary cancer-predisposing syndrome;Paragangliomas 1;Pheochromocytoma;not provided	RCV000539703;RCV000539703;RCV000569878;RCV000539703;RCV000539703;RCV000479419	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;ORPHA140162;699346009;MedGen;168000;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786205436
Clinvar_Rec_4394	rs786205436	Pathogenic	Fatal infantile mitochondrial cardiomyopathy;Mitochondrial complex II deficiency	RCV000171136;RCV000186596	MedGen;OMIM;Orphanet	C3532243;MedGen;252011;ORPHA3208	no assertion criteria provided	tagSNP	rs786205436
Clinvar_Rec_4395	rs138407155	Likely benign	Familial High Density Lipoprotein Deficiency;Familial visceral amyloidosis, Ostertag type	RCV000278412;RCV000396000	MedGen;OMIM;Orphanet;SNOMED CT	CN239346;MedGen;105200;ORPHA85450;66451004	criteria provided, single submitter	tagSNP	rs138407155
Clinvar_Rec_4396	rs121912720	Pathogenic	APOLIPOPROTEIN A-I (MUNSTER3C)	RCV000019503	-	-	no assertion criteria provided	tagSNP	rs121912720
Clinvar_Rec_4397	rs2229113	Benign	Inflammatory bowel disease;not specified	RCV000283667;RCV000455516	MedGen;Orphanet;SNOMED CT	C0021390;ORPHA104012;24526004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229113
Clinvar_Rec_4398	rs886047716	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000304845;RCV000336416	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886047716
Clinvar_Rec_4399	rs797044565	Pathogenic/Likely pathogenic	Wiedemann-Steiner syndrome;not provided	RCV001029947;RCV000171465	MedGen;OMIM;Orphanet	C1854630;605130;ORPHA319182;MedGen	no assertion criteria provided	tagSNP	rs797044565
Clinvar_Rec_4400	rs1555047506	Pathogenic	Inborn genetic diseases	RCV000624310	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555047506
Clinvar_Rec_4401	rs782533083	Uncertain significance	Glucose-6-phosphate transport defect	RCV000665598	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs782533083
Clinvar_Rec_4402	rs886047750	Uncertain significance	Glycogen storage disease, type I	RCV000309316	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs886047750
Clinvar_Rec_4403	rs886047751	Uncertain significance	Glycogen storage disease, type I	RCV000333716	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs886047751
Clinvar_Rec_4404	rs142305024	Likely benign	Noonan-Like Syndrome Disorder	RCV000269449	MedGen	CN239316	criteria provided, single submitter	LD derived	rs150159135
Clinvar_Rec_4405	rs730880427	Conflicting interpretations of pathogenicity	Noonan-Like Syndrome Disorder;not specified	RCV000324245;RCV000157852	MedGen	CN239316;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730880427
Clinvar_Rec_4406	rs146250423	Conflicting interpretations of pathogenicity	Rasopathy;not provided;not specified	RCV000540019;RCV000680287;RCV000038357	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146250423
Clinvar_Rec_4407	rs568679818	Likely benign	Glucose-6-phosphate transport defect	RCV000665241	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	LD derived	rs369353938
Clinvar_Rec_4408	rs141066351	Likely benign	Retinal degeneration	RCV000299454	Human Phenotype Ontology;MedGen	HP;C0035304	criteria provided, single submitter	LD derived	rs147285871
Clinvar_Rec_4409	rs9362331	Benign/Likely benign	Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 25;not specified	RCV000288760;RCV000609435;RCV000079545	MedGen;OMIM	CN239466;MedGen;602772;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4710457
Clinvar_Rec_4410	rs4639315	Benign/Likely benign	Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 25;not specified	RCV000266779;RCV001001576;RCV000124941	MedGen;OMIM	CN239466;MedGen;602772;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9353806
Clinvar_Rec_4411	rs376289027	Likely benign	Cone-Rod Dystrophy, Dominant	RCV000332898	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs376289027
Clinvar_Rec_4412	rs1554150837	Likely benign	Combined oxidative phosphorylation deficiency 10	RCV000549675	MedGen;OMIM;Orphanet	C3553529;614702;ORPHA314637	criteria provided, single submitter	tagSNP	rs1554150837
Clinvar_Rec_4413	rs755950225	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	RCV000185598	MedGen;OMIM	C4225325;616439	no assertion criteria provided	tagSNP	rs755950225
Clinvar_Rec_4414	rs11175525	Likely benign	Sanfilippo syndrome	RCV000394068	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs11175525
Clinvar_Rec_4415	rs368523842	Uncertain significance	Sanfilippo syndrome	RCV000303894	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs368523842
Clinvar_Rec_4416	rs886049773	Uncertain significance	Dermatofibrosis lenticularis disseminata	RCV000362542	MedGen;OMIM;Orphanet;SNOMED CT	C0265514;166700;ORPHA1306;60399005	criteria provided, single submitter	tagSNP	rs886049773
Clinvar_Rec_4417	rs867412512	Conflicting interpretations of pathogenicity	Dermatofibrosis lenticularis disseminata;not provided	RCV000276950;RCV000356248	MedGen;OMIM;Orphanet;SNOMED CT	C0265514;166700;ORPHA1306;60399005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs867412512
Clinvar_Rec_4418	rs148964879	Uncertain significance	Dermatofibrosis lenticularis disseminata	RCV000285926	MedGen;OMIM;Orphanet;SNOMED CT	C0265514;166700;ORPHA1306;60399005	criteria provided, single submitter	tagSNP	rs148964879
Clinvar_Rec_4419	rs376822761	Conflicting interpretations of pathogenicity	Dermatofibrosis lenticularis disseminata;not provided	RCV000306916;RCV000977294	MedGen;OMIM;Orphanet;SNOMED CT	C0265514;166700;ORPHA1306;60399005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376822761
Clinvar_Rec_4420	rs776951445	Likely benign	Hirschsprung disease 1;not provided	RCV000201309;RCV000966230	MedGen;OMIM	C3888239;142623;MedGen	criteria provided, single submitter	tagSNP	rs776951445
Clinvar_Rec_4421	rs1565669113	Uncertain significance	Familial visceral amyloidosis, Ostertag type	RCV000778380	MedGen;OMIM;Orphanet;SNOMED CT	C0268389;105200;ORPHA85450;66451004	criteria provided, single submitter	tagSNP	rs1565669113
Clinvar_Rec_4422	rs576522577	Likely benign	Familial visceral amyloidosis, Ostertag type	RCV000339555	MedGen;OMIM;Orphanet;SNOMED CT	C0268389;105200;ORPHA85450;66451004	criteria provided, single submitter	tagSNP	rs576522577
Clinvar_Rec_4423	rs1562482694	Likely pathogenic	Infantile nystagmus with foveal hypoplasia	RCV000786023	-	-	no assertion criteria provided	tagSNP	rs1562482694
Clinvar_Rec_4424	rs542273386	Uncertain significance	Ciliary dyskinesia, primary, 7;Primary ciliary dyskinesia	RCV000764701;RCV000466143	MedGen;OMIM;MedGen;Orphanet	C2678473;611884;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	LD derived	rs72657327
Clinvar_Rec_4425	rs10085448	Benign	Hypomyelination and Congenital Cataract	RCV000384924	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	tagSNP	rs10085448
Clinvar_Rec_4426	rs10085448	Benign	Hypomyelination and Congenital Cataract	RCV000330372	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs35708583
Clinvar_Rec_4427	rs10085448	Benign	Hypomyelination and Congenital Cataract	RCV000283853	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs3815348
Clinvar_Rec_4428	rs10085448	Benign	Hypomyelination and Congenital Cataract	RCV000346964	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs2286495
Clinvar_Rec_4429	rs10085448	Benign	Hypomyelination and Congenital Cataract	RCV000331632	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs10085739
Clinvar_Rec_4430	rs71527512	Uncertain significance	Hypomyelination and Congenital Cataract	RCV000273924	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	tagSNP	rs71527512
Clinvar_Rec_4431	rs10085739	Benign	Hypomyelination and Congenital Cataract	RCV000331632	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	tagSNP	rs10085739
Clinvar_Rec_4432	rs10085739	Benign	Hypomyelination and Congenital Cataract	RCV000330372	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs35708583
Clinvar_Rec_4433	rs10085739	Benign	Hypomyelination and Congenital Cataract	RCV000283853	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs3815348
Clinvar_Rec_4434	rs10085739	Benign	Hypomyelination and Congenital Cataract	RCV000346964	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs2286495
Clinvar_Rec_4435	rs10085739	Benign	Hypomyelination and Congenital Cataract	RCV000384924	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs10085448
Clinvar_Rec_4436	rs76265662	Conflicting interpretations of pathogenicity	Hypomyelination and Congenital Cataract;not provided	RCV000342314;RCV000870661	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs76265662
Clinvar_Rec_4437	rs972215357	Uncertain significance	Hypomyelination and Congenital Cataract	RCV000644617	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	tagSNP	rs972215357
Clinvar_Rec_4438	rs568668904	Uncertain significance	Thrombocytopenia	RCV000375341	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs550435948
Clinvar_Rec_4439	rs748044960	Uncertain significance	Thrombocytopenia	RCV000361089	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	tagSNP	rs748044960
Clinvar_Rec_4440	rs1562711082	Uncertain significance	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	RCV000692273	MedGen;OMIM	C3809468;615422	criteria provided, single submitter	tagSNP	rs1562711082
Clinvar_Rec_4441	rs886062259	Uncertain significance	Bosley-Salih-Alorainy syndrome	RCV000264065	MedGen;Orphanet	C1832216;ORPHA69737	criteria provided, single submitter	tagSNP	rs886062259
Clinvar_Rec_4442	rs119489104	Pathogenic	Microtia, hearing impairment, and cleft palate	RCV000005738	MedGen;OMIM;Orphanet	C2676772;612290;ORPHA140963	no assertion criteria provided	tagSNP	rs119489104
Clinvar_Rec_4443	rs864321666	Pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	RCV000016026	MedGen;OMIM	C4551975;605432	no assertion criteria provided	tagSNP	rs864321666
Clinvar_Rec_4444	rs1060503018	Uncertain significance	Rhabdoid tumor predisposition syndrome 1	RCV000472643	MedGen;OMIM	C1836327;609322	criteria provided, single submitter	tagSNP	rs1060503018
Clinvar_Rec_4445	rs1568943235	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001024308;RCV000704235	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1568943235
Clinvar_Rec_4446	rs587776677	Pathogenic	Malignant rhabdoid tumor, somatic	RCV000008486	MedGen	C2750405	no assertion criteria provided	tagSNP	rs587776677
Clinvar_Rec_4447	rs1555881567	Likely pathogenic	Mental retardation, autosomal dominant 15	RCV000677690	MedGen;OMIM	C3553248;614608	criteria provided, single submitter	tagSNP	rs1555881567
Clinvar_Rec_4448	rs1555881567	Likely pathogenic	Rhabdoid tumor predisposition syndrome 1;not provided	RCV000704445;RCV000997886	MedGen;OMIM	C1836327;609322;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555881567
Clinvar_Rec_4449	rs786201030	Pathogenic	Hypertelorism, Teebi type;Opitz GBBB syndrome, type II	RCV000754995;RCV000162328	MedGen;OMIM;Orphanet;OMIM;Orphanet	C0796179;145420;ORPHA1519;MedGen;145410;ORPHA306588	no assertion criteria provided	tagSNP	rs786201030
Clinvar_Rec_4450	rs147983457	Uncertain significance	Deficiency of beta-ureidopropionase	RCV000336402	MedGen;OMIM;Orphanet;SNOMED CT	C1291512;613161;ORPHA65287;124511000	criteria provided, single submitter	LD derived	rs151216546
Clinvar_Rec_4451	rs886057314	Uncertain significance	Hermansky-Pudlak syndrome	RCV000283844	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs886057314
Clinvar_Rec_4452	rs550753111	Uncertain significance	Hermansky-Pudlak syndrome	RCV000280180	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs550753111
Clinvar_Rec_4453	rs148134252	Uncertain significance	Hermansky-Pudlak syndrome;not provided	RCV000356763;RCV000596727	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148134252
Clinvar_Rec_4454	rs115113326	Benign/Likely benign	Hermansky-Pudlak syndrome;not provided;not specified	RCV000387021;RCV000961732;RCV000218788	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116769827
Clinvar_Rec_4455	rs115113326	Benign/Likely benign	Hermansky-Pudlak syndrome;not provided;not specified	RCV000292720;RCV000961733;RCV000222422	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114685298
Clinvar_Rec_4456	rs1064795532	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000559307;RCV000574009;RCV000479455	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064795532
Clinvar_Rec_4457	rs1569121571	Uncertain significance	Familial cancer of breast	RCV000705247	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1569121571
Clinvar_Rec_4458	rs587782347	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571472	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782347
Clinvar_Rec_4459	rs587782347	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000231753;RCV000131287;RCV000212441	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782347
Clinvar_Rec_4460	rs786203185	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774032	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203185
Clinvar_Rec_4461	rs786203185	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773080	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203185
Clinvar_Rec_4462	rs786203185	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000463155;RCV000166389	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203185
Clinvar_Rec_4463	rs1555932675	Likely benign	Familial cancer of breast	RCV000636003	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1555932675
Clinvar_Rec_4464	rs757322524	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567769;RCV000548334	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757322524
Clinvar_Rec_4465	rs1569305865	Uncertain significance	Neurofibromatosis, type 2	RCV000705527	MedGen;OMIM;Orphanet;SNOMED CT	C0027832;101000;ORPHA637;92503002	criteria provided, single submitter	tagSNP	rs1569305865
Clinvar_Rec_4466	rs201527155	Uncertain significance	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 2	RCV000565248;RCV000203209	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;101000;ORPHA637;92503002	criteria provided, multiple submitters, no conflicts	tagSNP	rs201527155
Clinvar_Rec_4467	rs2240433	Uncertain significance	Transcobalamin II deficiency	RCV000377487	MedGen;OMIM;Orphanet;SNOMED CT	C0342701;275350;ORPHA859;237934001	criteria provided, single submitter	tagSNP	rs2240433
Clinvar_Rec_4468	rs2240433	Benign	Transcobalamin II deficiency	RCV000285374	MedGen;OMIM;Orphanet;SNOMED CT	C0342701;275350;ORPHA859;237934001	criteria provided, single submitter	tagSNP	rs2240433
Clinvar_Rec_4469	rs886057395	Uncertain significance	Transcobalamin II deficiency	RCV000342563	MedGen;OMIM;Orphanet;SNOMED CT	C0342701;275350;ORPHA859;237934001	criteria provided, single submitter	tagSNP	rs886057395
Clinvar_Rec_4470	rs549326827	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2z	RCV000652683	MedGen;OMIM;Orphanet	C4225243;616688;ORPHA466768	criteria provided, single submitter	LD derived	rs370880177
Clinvar_Rec_4471	rs146029538	Conflicting interpretations of pathogenicity	Epilepsy, familial focal, with variable foci 1;not provided	RCV000642514;RCV000415994	MedGen;OMIM	C4551983;604364;MedGen	criteria provided, conflicting interpretations	LD derived	rs200465447
Clinvar_Rec_4472	rs1555894069	Uncertain significance	Ependymoma	RCV000577872	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D004806;C0014474;ORPHA251636;57706008	no assertion criteria provided	tagSNP	rs1555894069
Clinvar_Rec_4473	rs201347461	Uncertain significance	Epilepsy, familial focal, with variable foci 1	RCV000471430	MedGen;OMIM	C4551983;604364	criteria provided, single submitter	tagSNP	rs201347461
Clinvar_Rec_4474	rs4821026	Likely benign	Congenital glucose-galactose malabsorption	RCV000358568	MedGen;OMIM;Orphanet;SNOMED CT	C0268186;606824;ORPHA35710;27943000	criteria provided, single submitter	LD derived	rs9621386
Clinvar_Rec_4475	rs367714958	Uncertain significance	Parkinson Disease, Recessive	RCV000354444	MedGen	CN239372	criteria provided, single submitter	tagSNP	rs367714958
Clinvar_Rec_4476	rs73399512	Likely benign	Congenital Muscular Dystrophy, alpha-dystroglycan related;Walker-Warburg congenital muscular dystrophy	RCV000347331;RCV000289988	MedGen;Orphanet;SNOMED CT	CN239202;MedGen;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs73399512
Clinvar_Rec_4477	rs527539496	Likely benign	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000290371;RCV000347692	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs527539496
Clinvar_Rec_4478	rs886057476	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000302322;RCV000340801	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs886057476
Clinvar_Rec_4479	rs797044804	Likely pathogenic	MYH9-related disorder;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	RCV000790360;RCV000192270	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT;SNOMED CT	C1854520;ORPHA807;MedGen;155100;ORPHA182050;234485006;236422008	criteria provided, single submitter	tagSNP	rs797044804
Clinvar_Rec_4480	rs771692651	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000342403;RCV000287475	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs771692651
Clinvar_Rec_4481	rs875725	Benign	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000404900;RCV000309077;RCV000992410;RCV000037555	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs875725
Clinvar_Rec_4482	rs16996652	Benign	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	RCV000032219	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0340978;155100;ORPHA182050;234485006;236422008	no assertion criteria provided	tagSNP	rs16996652
Clinvar_Rec_4483	rs773975934	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000404142;RCV000305104	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs773975934
Clinvar_Rec_4484	rs750718366	Uncertain significance	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000262620;RCV000359728	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs750718366
Clinvar_Rec_4485	rs56001030	Benign/Likely benign	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000349300;RCV000393048;RCV000884373;RCV000037545	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56001030
Clinvar_Rec_4486	rs529161346	Uncertain significance	Chronic granulomatous disease	RCV000357811	MedGen;Orphanet	C0018203;ORPHA379	criteria provided, single submitter	tagSNP	rs529161346
Clinvar_Rec_4487	rs760539449	Likely pathogenic	Hirschsprung disease	RCV000736047	MeSH;MedGen;Orphanet;SNOMED CT	D006627;C0019569;ORPHA388;204739008	no assertion criteria provided	tagSNP	rs760539449
Clinvar_Rec_4488	rs193920893	Uncertain significance	Malignant tumor of prostate	RCV000149229	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920893
Clinvar_Rec_4489	rs116731209	Uncertain significance	Anemia, hypochromic microcytic, with iron overload 1	RCV000312030	MedGen;OMIM;Orphanet	C3806153;206100;ORPHA83642	criteria provided, single submitter	tagSNP	rs116731209
Clinvar_Rec_4490	rs869312690	Likely pathogenic	Early infantile epileptic encephalopathy 13	RCV000209897	MedGen;OMIM	C3281191;614558	criteria provided, single submitter	tagSNP	rs869312690
Clinvar_Rec_4491	rs781617696	Likely benign	Early infantile epileptic encephalopathy	RCV000636514	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs781617696
Clinvar_Rec_4492	rs1565934813	Uncertain significance	Early infantile epileptic encephalopathy	RCV000701512	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1565934813
Clinvar_Rec_4493	rs886049586	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000319667	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs886049586
Clinvar_Rec_4494	rs779857857	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000316348	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs779857857
Clinvar_Rec_4495	rs146762782	Likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000389560	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs146762782
Clinvar_Rec_4496	rs397974598	Benign	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000293661	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs397974598
Clinvar_Rec_4497	rs886049606	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000292574	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs886049606
Clinvar_Rec_4498	rs121918549	Pathogenic	Glucocorticoid deficiency with achalasia;not provided	RCV000005347;RCV000255807	MedGen;OMIM;Orphanet;SNOMED CT	C0271742;231550;ORPHA869;45414006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918549
Clinvar_Rec_4499	rs483353034	Likely pathogenic	Chronic progressive multiple sclerosis	RCV000122452	MedGen;SNOMED CT	C0393665;230373008	no assertion criteria provided	tagSNP	rs483353034
Clinvar_Rec_4500	rs483353038	Likely pathogenic	Chronic progressive multiple sclerosis	RCV000122457	MedGen;SNOMED CT	C0393665;230373008	no assertion criteria provided	tagSNP	rs483353038
Clinvar_Rec_4501	rs483353040	Likely benign	Chronic progressive multiple sclerosis	RCV000122458	MedGen;SNOMED CT	C0393665;230373008	no assertion criteria provided	tagSNP	rs483353040
Clinvar_Rec_4502	rs794729211	Likely pathogenic	Sulfite oxidase deficiency	RCV000184031	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C2931746;272300;ORPHA99731;367368009	no assertion criteria provided	tagSNP	rs794729211
Clinvar_Rec_4503	rs540792428	Uncertain significance	Sulfite oxidase deficiency	RCV000357593	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C2931746;272300;ORPHA99731;367368009	criteria provided, single submitter	tagSNP	rs540792428
Clinvar_Rec_4504	rs576457446	Likely benign	Cataract (disease)	RCV000391998	Human Phenotype Ontology;MeSH;MedGen;Orphanet	HP;D002386;C0086543;ORPHA98640	criteria provided, single submitter	LD derived	rs150155933
Clinvar_Rec_4505	rs200030371	Uncertain significance	Immunodeficiency 44	RCV000652752	MedGen;OMIM;Orphanet	C4225260;616636;ORPHA431166	criteria provided, single submitter	LD derived	rs200944055
Clinvar_Rec_4506	rs34762603	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not specified	RCV000303672;RCV000038475	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs17119344
Clinvar_Rec_4507	rs34762603	Likely benign	Nonsyndromic Hearing Loss, Dominant	RCV000324681	MedGen	CN239435	criteria provided, single submitter	LD derived	rs2270737
Clinvar_Rec_4508	rs1555168270	Likely pathogenic	MARS-Related Disorder;not provided	RCV000709861;RCV000520619	na;MedGen	CN517202	criteria provided, single submitter	tagSNP	rs1555168270
Clinvar_Rec_4509	rs756021768	Pathogenic	Interstitial lung and liver disease;Pulmonary alveolar proteinosis	RCV000173001;RCV000169766	MedGen;OMIM;Orphanet;MedGen;SNOMED CT	C4225400;615486;ORPHA440427;Human Phenotype Ontology;C0034050;10501004	no assertion criteria provided	tagSNP	rs756021768
Clinvar_Rec_4510	rs115576923	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575437;RCV000759742;RCV000424489	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115576923
Clinvar_Rec_4511	rs1555201108	Uncertain significance	Hereditary cutaneous melanoma	RCV000542883	MedGen	C1512419	criteria provided, single submitter	tagSNP	rs1555201108
Clinvar_Rec_4512	rs1443076952	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000567495;RCV001037077	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1443076952
Clinvar_Rec_4513	rs2069501	Benign	Cutaneous malignant melanoma 3;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000412354;RCV000163324;RCV000586842;RCV000253216	MedGen;OMIM;Orphanet;SNOMED CT	C1836892;609048;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2069501
Clinvar_Rec_4514	rs2069501	Benign	Cutaneous malignant melanoma 3;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000409853;RCV000163323;RCV000588774;RCV000243579	MedGen;OMIM;Orphanet;SNOMED CT	C1836892;609048;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2227953
Clinvar_Rec_4515	rs2069501	Conflicting interpretations of pathogenicity	Combined oxidative phosphorylation deficiency;not provided	RCV000289720;RCV000224319	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, conflicting interpretations	LD derived	rs62000432
Clinvar_Rec_4516	rs2069501	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000331011	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs114214463
Clinvar_Rec_4517	rs201202764	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575195;RCV000466339;RCV000444779	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201202764
Clinvar_Rec_4518	rs201202764	Benign/Likely benign	Cutaneous malignant melanoma 3;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000409850;RCV000163659;RCV000198407;RCV000429012	MedGen;OMIM;Orphanet;SNOMED CT	C1836892;609048;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201202764
Clinvar_Rec_4519	rs780590939	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000564014;RCV000199511	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780590939
Clinvar_Rec_4520	rs1555201372	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569008	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555201372
Clinvar_Rec_4521	rs1555201372	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565390	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555201372
Clinvar_Rec_4522	rs775085950	Uncertain significance	Hereditary cutaneous melanoma	RCV000704131	MedGen	C1512419	criteria provided, single submitter	tagSNP	rs775085950
Clinvar_Rec_4523	rs886049730	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000315719	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886049730
Clinvar_Rec_4524	rs149515235	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000645997	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs149515235
Clinvar_Rec_4525	rs1264589423	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000704892	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs1264589423
Clinvar_Rec_4526	rs201783367	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000689722	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs201783367
Clinvar_Rec_4527	rs764830622	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000646005	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs764830622
Clinvar_Rec_4528	rs755907947	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000685130	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs755907947
Clinvar_Rec_4529	rs1553496153	Likely benign	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000526818	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs1553496153
Clinvar_Rec_4530	rs1060499624	Likely pathogenic	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000445625	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	no assertion criteria provided	tagSNP	rs1060499624
Clinvar_Rec_4531	rs1553498323	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000530705	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs1553498323
Clinvar_Rec_4532	rs368160432	Uncertain significance	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000646011	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs368160432
Clinvar_Rec_4533	rs1553503136	Likely benign	Encephalopathy, acute, infection-induced, 3, suceptibility to	RCV000538420	MedGen;OMIM;Orphanet	C2675556;608033;ORPHA88619	criteria provided, single submitter	tagSNP	rs1553503136
Clinvar_Rec_4534	rs80266095	Likely benign	Hypohidrotic Ectodermal Dysplasia, Dominant	RCV000305290	MedGen	CN239335	criteria provided, single submitter	LD derived	rs115259025
Clinvar_Rec_4535	rs80266095	Benign/Likely benign	Hypohidrotic Ectodermal Dysplasia, Dominant;not provided;not specified	RCV000384066;RCV000534738;RCV000248380	MedGen	CN239335;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79648056
Clinvar_Rec_4536	rs377302236	Uncertain significance	Osteomyelitis, sterile multifocal, with periostitis and pustulosis	RCV000318920	MedGen;OMIM;Orphanet	C2748507;612852;ORPHA210115	criteria provided, single submitter	tagSNP	rs377302236
Clinvar_Rec_4537	rs397514515	Pathogenic	Spastic paraplegia 56, autosomal recessive	RCV000032699	MedGen;OMIM;Orphanet	C3539507;615030;ORPHA320411	no assertion criteria provided	tagSNP	rs397514515
Clinvar_Rec_4538	rs397514513	Pathogenic	Global developmental delay;Neurodegeneration;Spastic paraplegia;Spastic paraplegia 56, autosomal recessive;not provided	RCV000162142;RCV000162142;RCV000162185;RCV000032696;RCV000442087	Human Phenotype Ontology;MedGen;MedGen;MedGen;OMIM;Orphanet	HP;C0557874;Human Phenotype Ontology;C0027746;Human Phenotype Ontology;C0037772;MedGen;615030;ORPHA320411;MedGen	criteria provided, single submitter	tagSNP	rs397514513
Clinvar_Rec_4539	rs886058980	Uncertain significance	Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinism, Dominant/Recessive	RCV000372649;RCV000278031	MedGen;OMIM;Orphanet;SNOMED CT	C1291230;231530;ORPHA309127;124122005;MedGen	criteria provided, single submitter	tagSNP	rs886058980
Clinvar_Rec_4540	rs886059004	Uncertain significance	Anterior segment mesenchymal dysgenesis;Axenfeld-Rieger Syndrome;Cataract (disease);Irido-corneo-trabecular dysgenesis;PITX2-Related Eye Abnormalities;Ring dermoid of cornea	RCV000265475;RCV000300902;RCV000297372;RCV000405211;RCV000357833;RCV000304266	MedGen;OMIM;Orphanet;MeSH;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4551992;107250;MedGen;ORPHA782;Human Phenotype Ontology;D002386;C0086543;ORPHA98640;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;180550;ORPHA91481	criteria provided, single submitter	tagSNP	rs886059004
Clinvar_Rec_4541	rs1057519489	Pathogenic	Axenfeld-Rieger syndrome type 1	RCV000416518	MedGen;OMIM	C3714873;180500	no assertion criteria provided	tagSNP	rs1057519489
Clinvar_Rec_4542	rs761254386	Uncertain significance	Cardiovascular phenotype	RCV000619903	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs761254386
Clinvar_Rec_4543	rs189421233	Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000852975;RCV000620867;RCV000171747;RCV000440096	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149963885
Clinvar_Rec_4544	rs142775631	Likely benign	Intellectual Disability, Recessive	RCV000300164	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs142775631
Clinvar_Rec_4545	rs372377840	Uncertain significance	Cardiovascular phenotype;not specified	RCV000619742;RCV000605656	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372377840
Clinvar_Rec_4546	rs369618420	Uncertain significance	Premature ovarian insufficiency	RCV000766151	Human Phenotype Ontology;MedGen	HP;C0025322	no assertion criteria provided	tagSNP	rs369618420
Clinvar_Rec_4547	rs3088353	Benign	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A;not provided	RCV000320343;RCV000265340;RCV000829744	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3088353
Clinvar_Rec_4548	rs3168640	Benign	Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2A;not specified	RCV000391424;RCV000576412;RCV000304597;RCV000246196	MedGen;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;201300;MedGen;145260;ORPHA88938;703254001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3168640
Clinvar_Rec_4549	rs1555105614	Likely benign	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000647867;RCV000647867	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs1555105614
Clinvar_Rec_4550	rs377073379	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;not provided	RCV001052902;RCV001052902;RCV000237034	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377073379
Clinvar_Rec_4551	rs1555149377	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000542923;RCV000542923	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs1555149377
Clinvar_Rec_4552	rs775050259	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000706250;RCV000706250	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs775050259
Clinvar_Rec_4553	rs200513331	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;not provided	RCV000687306;RCV000687306;RCV000714199	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200513331
Clinvar_Rec_4554	rs200513331	Uncertain significance	Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000707100;RCV000707100	MedGen;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs200513331
Clinvar_Rec_4555	rs531919850	Uncertain significance	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A	RCV000387385;RCV000328165	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs531919850
Clinvar_Rec_4556	rs886048815	Uncertain significance	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A	RCV000260909;RCV000316077	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs886048815
Clinvar_Rec_4557	rs530868091	Uncertain significance	Cone dystrophy 3	RCV000393091	MedGen;OMIM	C1865869;602093	criteria provided, single submitter	LD derived	rs181731184
Clinvar_Rec_4558	rs200588235	Uncertain significance	Brugada syndrome;Cardiovascular phenotype;Long QT syndrome;Timothy syndrome;not provided	RCV000373284;RCV000619563;RCV000801058;RCV000278729;RCV000178619	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;OMIM;Orphanet	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;601005;ORPHA65283;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200588235
Clinvar_Rec_4559	rs199473392	Conflicting interpretations of pathogenicity	Brugada syndrome;Timothy syndrome;not provided	RCV000058290;RCV000678917;RCV000170829	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1142166;ORPHA130;418818005;MedGen;601005;ORPHA65283;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199473392
Clinvar_Rec_4560	rs149799233	Uncertain significance	von Willebrand disorder	RCV000299801	MedGen;Orphanet;SNOMED CT	C0042974;ORPHA903;128105004	criteria provided, single submitter	tagSNP	rs149799233
Clinvar_Rec_4561	rs61750579	Pathogenic	not provided;von Willebrand disease, type 2a	RCV000086803;RCV000000310	MedGen;Orphanet	CN517202;MedGen;ORPHA166084	no assertion criteria provided	tagSNP	rs61750579
Clinvar_Rec_4562	rs11063987	Benign/Likely benign	not provided;not specified;von Willebrand disorder	RCV000756904;RCV001000040;RCV000302817	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA903;128105004	criteria provided, multiple submitters, no conflicts	tagSNP	rs11063987
Clinvar_Rec_4563	rs11063987	Benign/Likely benign	not provided;not specified;von Willebrand disorder	RCV000755447;RCV000507196;RCV000400807	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA903;128105004	criteria provided, multiple submitters, no conflicts	LD derived	rs11063988
Clinvar_Rec_4564	rs554776242	Uncertain significance	Familial Periodic Fever	RCV000368173	MedGen	CN239390	criteria provided, single submitter	tagSNP	rs554776242
Clinvar_Rec_4565	rs554776242	Uncertain significance	Familial Periodic Fever	RCV000299328	MedGen	CN239390	criteria provided, single submitter	tagSNP	rs554776242
Clinvar_Rec_4566	rs200167144	Uncertain significance	Familial Periodic Fever	RCV000273617	MedGen	CN239390	criteria provided, single submitter	tagSNP	rs200167144
Clinvar_Rec_4567	rs886049750	Uncertain significance	Familial Periodic Fever	RCV000271993	MedGen	CN239390	criteria provided, single submitter	tagSNP	rs886049750
Clinvar_Rec_4568	rs150809388	Benign/Likely benign	Cystic Fibrosis-Like Syndrome;not specified	RCV000383840;RCV000614443	MedGen	CN239358;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150809388
Clinvar_Rec_4569	rs121964845	Pathogenic	Triosephosphate isomerase deficiency	RCV000013284	MedGen;OMIM;Orphanet	C1860808;615512;ORPHA868	criteria provided, multiple submitters, no conflicts	tagSNP	rs121964845
Clinvar_Rec_4570	rs782153322	Conflicting interpretations of pathogenicity	Triosephosphate isomerase deficiency;not provided	RCV000348819;RCV000980286	MedGen;OMIM;Orphanet	C1860808;615512;ORPHA868;MedGen	criteria provided, conflicting interpretations	tagSNP	rs782153322
Clinvar_Rec_4571	rs886049827	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000279259	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs886049827
Clinvar_Rec_4572	rs12316371	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000370847	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs12316371
Clinvar_Rec_4573	rs1555169422	Uncertain significance	Early infantile epileptic encephalopathy 21	RCV000652191	MedGen;OMIM	C4014430;615833	criteria provided, single submitter	tagSNP	rs1555169422
Clinvar_Rec_4574	rs145154841	Uncertain significance	Early infantile epileptic encephalopathy 21	RCV000550257	MedGen;OMIM	C4014430;615833	criteria provided, single submitter	tagSNP	rs145154841
Clinvar_Rec_4575	rs201973930	Benign/Likely benign	Schinzel-Giedion syndrome;not provided;not specified	RCV000339343;RCV000425713;RCV000147469	MedGen;OMIM;Orphanet;SNOMED CT	C0265227;269150;ORPHA798;18899000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201973930
Clinvar_Rec_4576	rs191949319	Uncertain significance	Diarrhea with Microvillus Atrophy	RCV000350030	MedGen	CN239249	criteria provided, single submitter	LD derived	rs114133687
Clinvar_Rec_4577	rs144344977	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000579871;RCV000443565	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148687037
Clinvar_Rec_4578	rs864622289	Uncertain significance	Juvenile polyposis syndrome	RCV000204818	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0345893;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, single submitter	tagSNP	rs864622289
Clinvar_Rec_4579	rs886053892	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis;Myhre syndrome	RCV000359102;RCV000304303;RCV000264016	MedGen;OMIM;OMIM;Orphanet	C4551861;187300;MedGen;139210;ORPHA2588	criteria provided, single submitter	tagSNP	rs886053892
Clinvar_Rec_4580	rs886053892	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000571774;RCV000781853	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886053892
Clinvar_Rec_4581	rs146104321	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;not provided;not specified	RCV000162365;RCV000409431;RCV000679583;RCV000438148	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146104321
Clinvar_Rec_4582	rs863224731	Uncertain significance	Juvenile polyposis syndrome	RCV000199820	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0345893;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, single submitter	tagSNP	rs863224731
Clinvar_Rec_4583	rs80338965	Pathogenic	Carcinoma of pancreas;Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;Juvenile polyposis syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Myhre syndrome;not provided	RCV000768095;RCV000131266;RCV000205495;RCV000768095;RCV000021727;RCV000768095;RCV000768095;RCV000254690	MeSH;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet	C562463;C0235974;260350;ORPHA217074;372142002;MedGen;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen;175050;MedGen;175050;MedGen;139210;ORPHA2588;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80338965
Clinvar_Rec_4584	rs760840557	Likely benign	Cardiovascular phenotype;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000620561;RCV000581754;RCV000530327;RCV000604219	MedGen;Orphanet;SNOMED CT	CN230736;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760840557
Clinvar_Rec_4585	rs786202496	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000165338	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202496
Clinvar_Rec_4586	rs876658866	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217851	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658866
Clinvar_Rec_4587	rs1555687615	Uncertain significance	Juvenile polyposis syndrome	RCV000662977	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0345893;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, single submitter	tagSNP	rs1555687615
Clinvar_Rec_4588	rs1555687622	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582646	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555687622
Clinvar_Rec_4589	rs1555687622	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776603	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555687622
Clinvar_Rec_4590	rs1555687625	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565422	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555687625
Clinvar_Rec_4591	rs374562658	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000566093;RCV000587852;RCV000437773	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs145805120
Clinvar_Rec_4592	rs111947783	Likely benign	Pitt-Hopkins syndrome	RCV000388095	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, single submitter	tagSNP	rs111947783
Clinvar_Rec_4593	rs587784460	Conflicting interpretations of pathogenicity	Pitt-Hopkins syndrome	RCV000147716	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, conflicting interpretations	tagSNP	rs587784460
Clinvar_Rec_4594	rs1568307111	Uncertain significance	Pitt-Hopkins syndrome	RCV000700487	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, single submitter	tagSNP	rs1568307111
Clinvar_Rec_4595	rs886054006	Uncertain significance	Progressive familial intrahepatic cholestasis	RCV000314305	MedGen;Orphanet;SNOMED CT	C0268312;ORPHA172;74162007	criteria provided, single submitter	tagSNP	rs886054006
Clinvar_Rec_4596	rs745786597	Uncertain significance	Progressive familial intrahepatic cholestasis	RCV000267185	MedGen;Orphanet;SNOMED CT	C0268312;ORPHA172;74162007	criteria provided, single submitter	tagSNP	rs745786597
Clinvar_Rec_4597	rs886054035	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000382184	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs886054035
Clinvar_Rec_4598	rs770166340	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000338942	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs770166340
Clinvar_Rec_4599	rs141778850	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584307	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	LD derived	rs55689095
Clinvar_Rec_4600	rs141778850	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113807;RCV000195380;RCV000130819;RCV000590609;RCV000045293	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs55689095
Clinvar_Rec_4601	rs141778850	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000662386;RCV000199590;RCV000579869;RCV000859069;RCV000160247	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs149769332
Clinvar_Rec_4602	rs141778850	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000773107;RCV000924771	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs81002838
Clinvar_Rec_4603	rs141778850	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031746;RCV000581089;RCV000195336;RCV000045537	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs81002838
Clinvar_Rec_4604	rs398122544	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000076950;RCV000690786;RCV000574036;RCV000758917	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398122544
Clinvar_Rec_4605	rs863224593	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000196253;RCV000509682	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224593
Clinvar_Rec_4606	rs80359792	Likely benign	Breast-ovarian cancer, familial 2	RCV000113775	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80359792
Clinvar_Rec_4607	rs749053313	Likely benign	Breast-ovarian cancer, familial 2	RCV000495061	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs749053313
Clinvar_Rec_4608	rs749053313	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000213207;RCV000236398	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749053313
Clinvar_Rec_4609	rs886040776	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000256975;RCV000586555	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040776
Clinvar_Rec_4610	rs890456700	Likely benign	Hereditary breast and ovarian cancer syndrome;not specified	RCV000637825;RCV000431309	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs890456700
Clinvar_Rec_4611	rs886040848	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256991	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040848
Clinvar_Rec_4612	rs397507435	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031844;RCV000457938;RCV000130515;RCV000985254	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507435
Clinvar_Rec_4613	rs397507435	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000409872;RCV000637477;RCV000129650;RCV000589361;RCV000216915	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397507435
Clinvar_Rec_4614	rs1381809570	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000581865;RCV000944658	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1381809570
Clinvar_Rec_4615	rs147797288	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000699217;RCV000130527	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs147797288
Clinvar_Rec_4616	rs1555281813	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579912	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555281813
Clinvar_Rec_4617	rs772430226	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509964	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs772430226
Clinvar_Rec_4618	rs547590567	Uncertain significance	Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Wilms tumor 1;not specified	RCV000765131;RCV000765131;RCV000765131;RCV000765131;RCV000816899;RCV000167165;RCV000765131;RCV000765131;RCV000765131;RCV000765131;RCV000508325	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;OMIM;OMIM	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen;605724;ORPHA319462;MedGen;613029;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0376358;176807;399068003;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen;613347;MedGen;194070;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs547590567
Clinvar_Rec_4619	rs547590567	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000227331;RCV000583967;RCV000985463	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs547590567
Clinvar_Rec_4620	rs548313038	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777016	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs548313038
Clinvar_Rec_4621	rs1555281910	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637335	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555281910
Clinvar_Rec_4622	rs1566223650	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000989000;RCV000709298;RCV001011762	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566223650
Clinvar_Rec_4623	rs397507268	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000031323;RCV000637774;RCV000566123;RCV000220125	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397507268
Clinvar_Rec_4624	rs886040370	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257789	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040370
Clinvar_Rec_4625	rs80359286	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000112929;RCV000043819;RCV000572571;RCV000657222	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359286
Clinvar_Rec_4626	rs1555281928	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566446	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555281928
Clinvar_Rec_4627	rs786203006	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000793608;RCV000564138	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203006
Clinvar_Rec_4628	rs786203006	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166120	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203006
Clinvar_Rec_4629	rs886037807	Uncertain significance	Neoplasm of the breast;not provided	RCV000240730;RCV000486878	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D001943;C1458155;ORPHA180250;126926005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886037807
Clinvar_Rec_4630	rs749469486	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000548268;RCV000166164	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs749469486
Clinvar_Rec_4631	rs786202142	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000164808;RCV000419181	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202142
Clinvar_Rec_4632	rs786202158	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000775000;RCV000831596;RCV001000339	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202158
Clinvar_Rec_4633	rs786202158	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495295;RCV000164834;RCV000526672;RCV000439165	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786202158
Clinvar_Rec_4634	rs886040374	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000256495;RCV000500120;RCV000563276	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs886040374
Clinvar_Rec_4635	rs80358441	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000112935;RCV001012153	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358441
Clinvar_Rec_4636	rs80358442	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031327;RCV000043829;RCV000165147;RCV000034431;RCV000200975	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358442
Clinvar_Rec_4637	rs80358443	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000112936;RCV000575869	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358443
Clinvar_Rec_4638	rs80358443	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Cancer of the pancreas;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000082887;RCV000677856;RCV000132044;RCV000240762;RCV000590104;RCV000160205	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358443
Clinvar_Rec_4639	rs1555281980	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000554344;RCV001012326	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555281980
Clinvar_Rec_4640	rs781763239	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000662361;RCV000804094;RCV000166855;RCV000586858	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs781763239
Clinvar_Rec_4641	rs80359294	Pathogenic	Breast-ovarian cancer, familial 2	RCV000112943	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80359294
Clinvar_Rec_4642	rs1131692142	Likely benign	Breast-ovarian cancer, familial 2	RCV000495578	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1131692142
Clinvar_Rec_4643	rs1555281990	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000637997	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555281990
Clinvar_Rec_4644	rs397507598	Pathogenic	Breast-ovarian cancer, familial 2;Familial cancer of breast	RCV000241220;RCV000043849	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397507598
Clinvar_Rec_4645	rs1555282001	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000509898;RCV000759579	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282001
Clinvar_Rec_4646	rs1060504633	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000637940	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060504633
Clinvar_Rec_4647	rs1555282036	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000570541	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555282036
Clinvar_Rec_4648	rs398122730	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509702	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs398122730
Clinvar_Rec_4649	rs398122730	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000077664;RCV000166334	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs398122730
Clinvar_Rec_4650	rs1555282038	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637957;RCV000773281	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282038
Clinvar_Rec_4651	rs1131692274	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000496052;RCV000637369;RCV000581310	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1131692274
Clinvar_Rec_4652	rs1555282059	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000560966	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555282059
Clinvar_Rec_4653	rs80358459	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077265;RCV000043879;RCV000130772;RCV000486075;RCV000780024	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358459
Clinvar_Rec_4654	rs28897710	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000768623;RCV000112970;RCV000074516;RCV000043885;RCV000128961;RCV000148412;RCV000034432;RCV000120304	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs28897710
Clinvar_Rec_4655	rs80358462	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000112971;RCV000509597;RCV000758865	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358462
Clinvar_Rec_4656	rs1159099773	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000546984;RCV000569367	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1159099773
Clinvar_Rec_4657	rs1555282105	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637468;RCV001013325	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282105
Clinvar_Rec_4658	rs1049486589	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000584398;RCV000443925	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1049486589
Clinvar_Rec_4659	rs879255438	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000239012;RCV001050117	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs879255438
Clinvar_Rec_4660	rs587780646	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000238635;RCV000122900;RCV000129425;RCV000985248;RCV000221850	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587780646
Clinvar_Rec_4661	rs1555282120	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000567871	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555282120
Clinvar_Rec_4662	rs777641881	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001065241;RCV000777064	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs777641881
Clinvar_Rec_4663	rs941500711	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000462345	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs941500711
Clinvar_Rec_4664	rs1566224496	Pathogenic/Likely pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000781106	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566224496
Clinvar_Rec_4665	rs397507278	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000031346;RCV000587137;RCV000510116	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs397507278
Clinvar_Rec_4666	rs397507278	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000031347;RCV000509896	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs397507278
Clinvar_Rec_4667	rs80358486	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495657;RCV001014419	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80358486
Clinvar_Rec_4668	rs80358486	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113013;RCV000563839;RCV000679158;RCV000236961	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358486
Clinvar_Rec_4669	rs431825293	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000082898;RCV000204537;RCV000776355	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs431825293
Clinvar_Rec_4670	rs1555282450	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000772694;RCV000616842	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282450
Clinvar_Rec_4671	rs1566226193	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000691258	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566226193
Clinvar_Rec_4672	rs1566226193	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774965	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566226193
Clinvar_Rec_4673	rs112566179	Benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495123;RCV000162803;RCV000759589;RCV000160214	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs112566179
Clinvar_Rec_4674	rs876658303	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000576121	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658303
Clinvar_Rec_4675	rs876658303	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000531556;RCV000213758	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658303
Clinvar_Rec_4676	rs1555282520	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000541683	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555282520
Clinvar_Rec_4677	rs1566226546	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000690022	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566226546
Clinvar_Rec_4678	rs768143929	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000696795;RCV000564881	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs768143929
Clinvar_Rec_4679	rs768143929	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000238666;RCV000559193;RCV000167274	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs768143929
Clinvar_Rec_4680	rs11571653	Benign	Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000113034;RCV000270154;RCV000195303;RCV000131146;RCV000412901;RCV000034435;RCV000120314	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs11571653
Clinvar_Rec_4681	rs1555282650	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573782	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282650
Clinvar_Rec_4682	rs587782737	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000806650;RCV000132239;RCV000779981	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782737
Clinvar_Rec_4683	rs587782737	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000168301;RCV000574060;RCV000985478;RCV000496950	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587782737
Clinvar_Rec_4684	rs1379713510	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564509	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1379713510
Clinvar_Rec_4685	rs587780549	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000119197;RCV000129897	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587780549
Clinvar_Rec_4686	rs587780549	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000494968;RCV000223632	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs587780549
Clinvar_Rec_4687	rs80358522	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113068;RCV000572035	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358522
Clinvar_Rec_4688	rs730881589	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495789;RCV000166047;RCV000471612;RCV000160216	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs730881589
Clinvar_Rec_4689	rs1566227029	Likely benign	Hereditary cancer-predisposing syndrome	RCV000777124	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566227029
Clinvar_Rec_4690	rs1555282757	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000661563;RCV000709305	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1555282757
Clinvar_Rec_4691	rs765618026	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000697478	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs765618026
Clinvar_Rec_4692	rs765618026	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not specified	RCV001064636;RCV000781117	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765618026
Clinvar_Rec_4693	rs80359340	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000113073;RCV000496659;RCV000162913;RCV000485965	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359340
Clinvar_Rec_4694	rs764019690	Pathogenic	Breast-ovarian cancer, familial 2	RCV000241383	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs764019690
Clinvar_Rec_4695	rs398122750	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000077689	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs398122750
Clinvar_Rec_4696	rs756951335	Uncertain significance	Cancer of the pancreas;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000677822;RCV000198310;RCV000575746	MedGen;MedGen;Orphanet;Orphanet;SNOMED CT	C0346647;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756951335
Clinvar_Rec_4697	rs786202254	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000792719;RCV000164972	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202254
Clinvar_Rec_4698	rs876660858	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000819764;RCV000777493	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660858
Clinvar_Rec_4699	rs876660858	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000221615	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660858
Clinvar_Rec_4700	rs276174828	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113086;RCV000221941	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs276174828
Clinvar_Rec_4701	rs276174829	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113087;RCV000162906;RCV000759591;RCV000438287	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs276174829
Clinvar_Rec_4702	rs786202795	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637429;RCV000509602	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202795
Clinvar_Rec_4703	rs786202795	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000476860;RCV000165784	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs786202795
Clinvar_Rec_4704	rs431825298	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001065203;RCV000510037	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs431825298
Clinvar_Rec_4705	rs431825298	Benign	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000082903;RCV000231119;RCV000571395;RCV000985487	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs431825298
Clinvar_Rec_4706	rs1555282834	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661444	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555282834
Clinvar_Rec_4707	rs397507293	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000031381;RCV000469857;RCV000776350	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507293
Clinvar_Rec_4708	rs397507293	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000077693;RCV000122904;RCV001016515	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507293
Clinvar_Rec_4709	rs886040448	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257541	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040448
Clinvar_Rec_4710	rs80359347	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000256522;RCV000496916	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80359347
Clinvar_Rec_4711	rs80359347	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000077694;RCV000496679;RCV000569923	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80359347
Clinvar_Rec_4712	rs80359351	Pathogenic	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 1;Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	RCV000735443;RCV000210161;RCV000009907;RCV000458791;RCV000044064;RCV000131102;RCV000240755;RCV000160273	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	CN221562;MedGen;604370;MedGen;612555;MedGen;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs80359351
Clinvar_Rec_4713	rs1482421242	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582339	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1482421242
Clinvar_Rec_4714	rs397507644	Pathogenic	Breast-ovarian cancer, familial 2;Neoplasm of the breast;not provided	RCV000257690;RCV000677820;RCV000479662	MedGen;OMIM;MeSH;MedGen;Orphanet;SNOMED CT	C2675520;612555;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs397507644
Clinvar_Rec_4715	rs1555282901	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637414;RCV001016754	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282901
Clinvar_Rec_4716	rs730881517	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000662673;RCV000542950;RCV000570238;RCV000781051	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881517
Clinvar_Rec_4717	rs775903570	Uncertain significance	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000769689;RCV000238624;RCV000472527;RCV000213594;RCV000478603	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775903570
Clinvar_Rec_4718	rs80358535	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113105;RCV000222954;RCV000587157;RCV000120346	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358535
Clinvar_Rec_4719	rs1060502435	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000476520	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060502435
Clinvar_Rec_4720	rs886038080	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772865	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs886038080
Clinvar_Rec_4721	rs886038080	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000240967;RCV000550373	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886038080
Clinvar_Rec_4722	rs1555282933	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581262	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555282933
Clinvar_Rec_4723	rs539613324	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000167943;RCV000132411;RCV000657012;RCV000485759	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs539613324
Clinvar_Rec_4724	rs929538989	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV001038891;RCV000560988;RCV000779991	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs929538989
Clinvar_Rec_4725	rs1566227476	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000692357	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566227476
Clinvar_Rec_4726	rs397507299	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000031394;RCV000574159	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs397507299
Clinvar_Rec_4727	rs80358545	Benign	Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113125;RCV000324539;RCV000167829;RCV000130463;RCV000679165;RCV000044098	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358545
Clinvar_Rec_4728	rs876658596	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495819;RCV000216104	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876658596
Clinvar_Rec_4729	rs886040481	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000256969;RCV001048573	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040481
Clinvar_Rec_4730	rs1566228743	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000773017	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566228743
Clinvar_Rec_4731	rs1057521890	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000561843;RCV000432690	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057521890
Clinvar_Rec_4732	rs41293481	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164836	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs41293481
Clinvar_Rec_4733	rs80358606	Benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077308;RCV000130786;RCV000755858;RCV000254642	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358606
Clinvar_Rec_4734	rs886040484	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000257084;RCV000496767	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040484
Clinvar_Rec_4735	rs1060502404	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not provided	RCV000476241;RCV000484479	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502404
Clinvar_Rec_4736	rs1060502404	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567282	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060502404
Clinvar_Rec_4737	rs192892005	Likely benign	Breast-ovarian cancer, familial 2	RCV000495674	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs192892005
Clinvar_Rec_4738	rs80358607	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774657	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358607
Clinvar_Rec_4739	rs80358607	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000113194	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs80358607
Clinvar_Rec_4740	rs1555283314	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563419	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555283314
Clinvar_Rec_4741	rs1555283317	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582222	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555283317
Clinvar_Rec_4742	rs80358649	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000113256;RCV000637386	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs80358649
Clinvar_Rec_4743	rs80358653	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000470587	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs80358653
Clinvar_Rec_4744	rs80358653	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000113264;RCV000570365;RCV000520753	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358653
Clinvar_Rec_4745	rs886037800	Pathogenic	Neoplasm of the breast	RCV000240802	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D001943;C1458155;ORPHA180250;126926005	criteria provided, single submitter	tagSNP	rs886037800
Clinvar_Rec_4746	rs886037800	Pathogenic	Breast-ovarian cancer, familial 2	RCV000241075	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886037800
Clinvar_Rec_4747	rs1555283532	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000582755;RCV000936875	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283532
Clinvar_Rec_4748	rs397507703	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257085	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397507703
Clinvar_Rec_4749	rs1555283548	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661601	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555283548
Clinvar_Rec_4750	rs80358657	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637712	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs80358657
Clinvar_Rec_4751	rs80358657	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000770725;RCV000031459;RCV000162841;RCV000044346;RCV000160222	MedGen;OMIM;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358657
Clinvar_Rec_4752	rs80358658	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113273;RCV000447449	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80358658
Clinvar_Rec_4753	rs1566229657	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000695644	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566229657
Clinvar_Rec_4754	rs786203593	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000494886;RCV000166973	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786203593
Clinvar_Rec_4755	rs886038101	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000637324	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs886038101
Clinvar_Rec_4756	rs886038101	Pathogenic	Breast-ovarian cancer, familial 2	RCV000241154	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886038101
Clinvar_Rec_4757	rs878853581	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000662562;RCV000228724	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853581
Clinvar_Rec_4758	rs886040517	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257429	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040517
Clinvar_Rec_4759	rs1555283691	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001022215;RCV000588421	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283691
Clinvar_Rec_4760	rs876659247	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000818006;RCV000213473	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659247
Clinvar_Rec_4761	rs876660370	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495188;RCV000221577	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876660370
Clinvar_Rec_4762	rs80358670	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113295;RCV000044395;RCV000510062;RCV000505839;RCV001002014	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358670
Clinvar_Rec_4763	rs80358670	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000077728;RCV000570068;RCV000160186	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358670
Clinvar_Rec_4764	rs528810278	Likely benign	Breast-ovarian cancer, familial 2;not provided	RCV000494991;RCV000924561	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs528810278
Clinvar_Rec_4765	rs774446640	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637488	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs774446640
Clinvar_Rec_4766	rs774446640	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000495050;RCV000220733;RCV000554340	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs774446640
Clinvar_Rec_4767	rs1555283752	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000661538;RCV001022382;RCV000506192	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs1555283752
Clinvar_Rec_4768	rs1060504627	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580464	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060504627
Clinvar_Rec_4769	rs117187202	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Invasive Lobular Breast Carcinoma;Neoplasm of the breast;Ovarian cancer;not provided	RCV000031479;RCV000044400;RCV000166927;RCV000677823;RCV000240790;RCV000677824;RCV000481899	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen;D001943;C1458155;ORPHA180250;126926005;MedGen;ORPHA213500;MedGen	criteria provided, conflicting interpretations	tagSNP	rs117187202
Clinvar_Rec_4770	rs80358673	Uncertain significance	Breast-ovarian cancer, familial 2;not provided;not specified	RCV000113299;RCV000481144;RCV000780026	MedGen;OMIM	C2675520;612555;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358673
Clinvar_Rec_4771	rs1555283754	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000533478;RCV000777191	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283754
Clinvar_Rec_4772	rs1064794337	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000661389;RCV000706796;RCV000775949;RCV000484635	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs1064794337
Clinvar_Rec_4773	rs745425169	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000220363	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs745425169
Clinvar_Rec_4774	rs1159807733	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000637705;RCV001022464;RCV000586178	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1159807733
Clinvar_Rec_4775	rs80358678	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113303;RCV000131309;RCV000586286;RCV000044414	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358678
Clinvar_Rec_4776	rs876660026	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000556970	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs876660026
Clinvar_Rec_4777	rs876660026	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000257151;RCV000637718;RCV000214586	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876660026
Clinvar_Rec_4778	rs397507720	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000661726;RCV001066100;RCV001022521;RCV000256156;RCV000506592	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs397507720
Clinvar_Rec_4779	rs786201350	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495136;RCV000163448;RCV000932537;RCV000611991	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786201350
Clinvar_Rec_4780	rs1555283795	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637316;RCV000576055	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283795
Clinvar_Rec_4781	rs80358680	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000113309;RCV000131290;RCV000212236	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358680
Clinvar_Rec_4782	rs863224307	Likely benign	Breast-ovarian cancer, familial 2;not provided	RCV000495238;RCV000196860	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs863224307
Clinvar_Rec_4783	rs863224307	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495710;RCV000217675	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs863224307
Clinvar_Rec_4784	rs80359457	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000077328;RCV000044437;RCV000131070;RCV000254643	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359457
Clinvar_Rec_4785	rs200185407	Likely benign	Breast-ovarian cancer, familial 2	RCV000495394	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs200185407
Clinvar_Rec_4786	rs200185407	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000768637;RCV000031716;RCV000045378;RCV000129068;RCV000590485;RCV000160248	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs28897745
Clinvar_Rec_4787	rs1555283843	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000817797;RCV000510110;RCV000985529	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283843
Clinvar_Rec_4788	rs587781534	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000637493;RCV000129536;RCV000508530	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781534
Clinvar_Rec_4789	rs587781418	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000554873;RCV001022709;RCV000779994	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781418
Clinvar_Rec_4790	rs587781418	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000129287;RCV000506395	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781418
Clinvar_Rec_4791	rs879255451	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	RCV000239353;RCV000690856;RCV000478902	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255451
Clinvar_Rec_4792	rs56386506	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735551;RCV000083108;RCV000163006;RCV000167796;RCV000044444	MedGen;OMIM;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs56386506
Clinvar_Rec_4793	rs1555283875	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000528944	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555283875
Clinvar_Rec_4794	rs587782753	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV001066722;RCV000132267;RCV000779985	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782753
Clinvar_Rec_4795	rs766855850	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000696621	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs766855850
Clinvar_Rec_4796	rs876659201	Uncertain significance	Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Wilms tumor 1	RCV000763889;RCV000763889;RCV000763889;RCV000763889;RCV000459523;RCV000220835;RCV000763889;RCV000763889;RCV000763889;RCV000763889	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;OMIM;OMIM	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen;605724;ORPHA319462;MedGen;613029;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0376358;176807;399068003;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen;613347;MedGen;194070	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659201
Clinvar_Rec_4797	rs397507356	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031559;RCV000456296;RCV001024316;RCV000657342	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs397507356
Clinvar_Rec_4798	rs773229361	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	RCV000241372;RCV000702521;RCV000508054	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs773229361
Clinvar_Rec_4799	rs80358781	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000692500;RCV000509970	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358781
Clinvar_Rec_4800	rs80358781	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113448;RCV000129963	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358781
Clinvar_Rec_4801	rs1401654517	Likely benign	Hereditary cancer-predisposing syndrome	RCV000774480	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1401654517
Clinvar_Rec_4802	rs876659256	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509694	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659256
Clinvar_Rec_4803	rs876659256	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218600	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659256
Clinvar_Rec_4804	rs1555284504	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000560979	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555284504
Clinvar_Rec_4805	rs80358839	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000077367;RCV000709322;RCV000129746;RCV000212246	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358839
Clinvar_Rec_4806	rs786201328	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776845	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201328
Clinvar_Rec_4807	rs786201328	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495346;RCV000163392;RCV000534486;RCV000444790	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786201328
Clinvar_Rec_4808	rs786201328	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not specified	RCV000495465;RCV000218381;RCV000588522	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786201328
Clinvar_Rec_4809	rs1566233813	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000706136	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566233813
Clinvar_Rec_4810	rs780621780	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000165232;RCV000588995	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780621780
Clinvar_Rec_4811	rs780621780	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000238902	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs780621780
Clinvar_Rec_4812	rs886040644	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257202	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040644
Clinvar_Rec_4813	rs886040645	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257738	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040645
Clinvar_Rec_4814	rs1555284614	Pathogenic	Breast-ovarian cancer, familial 2	RCV000625752	MedGen;OMIM	C2675520;612555	criteria provided, single submitter	tagSNP	rs1555284614
Clinvar_Rec_4815	rs1064794647	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000661557;RCV000702804;RCV000564556;RCV000478351	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs1064794647
Clinvar_Rec_4816	rs767567428	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000487865;RCV000464688;RCV000568895;RCV000415863;RCV000455182	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767567428
Clinvar_Rec_4817	rs80359583	Pathogenic	Breast-ovarian cancer, familial 2	RCV000113582	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80359583
Clinvar_Rec_4818	rs80358876	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000083127;RCV000044933;RCV000165986;RCV000160110	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358876
Clinvar_Rec_4819	rs876658814	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000685831	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs876658814
Clinvar_Rec_4820	rs876658814	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000555951;RCV000215239;RCV000780002	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658814
Clinvar_Rec_4821	rs1064793743	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000775947;RCV000766361;RCV000484418	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793743
Clinvar_Rec_4822	rs886040662	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256772	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040662
Clinvar_Rec_4823	rs1064794089	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not provided;not specified	RCV000538024;RCV000484681;RCV000781046	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794089
Clinvar_Rec_4824	rs206076	not provided	Breast-ovarian cancer, familial 2	RCV000113602	MedGen;OMIM	C2675520;612555	no assertion provided	tagSNP	rs206076
Clinvar_Rec_4825	rs206076	Benign	Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000119246;RCV000464673;RCV000261979;RCV000257903;RCV000162377;RCV000656614;RCV000152878	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs206076
Clinvar_Rec_4826	rs206076	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495019;RCV000163332;RCV000724515;RCV000168590	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs206076
Clinvar_Rec_4827	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191879	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206121
Clinvar_Rec_4828	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191882	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206123
Clinvar_Rec_4829	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191883	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206071
Clinvar_Rec_4830	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191884	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206073
Clinvar_Rec_4831	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191885	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206074
Clinvar_Rec_4832	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000113321	MedGen;OMIM	C2675520;612555	no assertion criteria provided	LD derived	rs206075
Clinvar_Rec_4833	rs206076	Benign	Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000119245;RCV000461053;RCV000340564;RCV000257902;RCV000132170;RCV000656604;RCV000152875	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs206075
Clinvar_Rec_4834	rs206076	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000412372;RCV000164515;RCV000198429;RCV000160224	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs206075
Clinvar_Rec_4835	rs206076	Benign	Breast-ovarian cancer, familial 2;not specified	RCV000191886;RCV000248008	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	LD derived	rs206078
Clinvar_Rec_4836	rs206076	Benign	Breast-ovarian cancer, familial 2;not specified	RCV000191887;RCV000585686	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	LD derived	rs206080
Clinvar_Rec_4837	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191888	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206069
Clinvar_Rec_4838	rs206076	Benign	Breast-ovarian cancer, familial 2;Familial cancer of breast;not provided;not specified	RCV000113751;RCV000476057;RCV000656618;RCV000168597	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen	reviewed by expert panel	LD derived	rs169547
Clinvar_Rec_4839	rs206076	Benign	Breast-ovarian cancer, familial 2;Ductal breast carcinoma;not provided;not specified	RCV000989064;RCV000207137;RCV000860180;RCV000120357	MedGen;OMIM	C2675520;612555;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs169547
Clinvar_Rec_4840	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191890	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206098
Clinvar_Rec_4841	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191893	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206067
Clinvar_Rec_4842	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191894	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206068
Clinvar_Rec_4843	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191898	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206145
Clinvar_Rec_4844	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191907	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206341
Clinvar_Rec_4845	rs206076	Benign	Breast-ovarian cancer, familial 2	RCV000191912	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs206344
Clinvar_Rec_4846	rs1222261194	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509811	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1222261194
Clinvar_Rec_4847	rs886040663	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257289	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040663
Clinvar_Rec_4848	rs397507872	Pathogenic	Breast-ovarian cancer, familial 2;Familial cancer of breast	RCV000661716;RCV000577414	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397507872
Clinvar_Rec_4849	rs1566235052	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566235052
Clinvar_Rec_4850	rs276174876	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573449	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs276174876
Clinvar_Rec_4851	rs276174876	Pathogenic	Breast-ovarian cancer, familial 2	RCV000113633	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs276174876
Clinvar_Rec_4852	rs276174876	Uncertain significance	Hereditary cancer-predisposing syndrome;Neoplasm of the breast	RCV000221713;RCV000677826	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	criteria provided, single submitter	tagSNP	rs276174876
Clinvar_Rec_4853	rs762191939	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001025569;RCV000586734	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762191939
Clinvar_Rec_4854	rs1555284825	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256822	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555284825
Clinvar_Rec_4855	rs276174877	Uncertain significance	Breast-ovarian cancer, familial 2;not provided	RCV000113634;RCV000507446	MedGen;OMIM	C2675520;612555;MedGen	criteria provided, single submitter	tagSNP	rs276174877
Clinvar_Rec_4856	rs1555284826	Likely benign	Hereditary cancer-predisposing syndrome	RCV000568781	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555284826
Clinvar_Rec_4857	rs879255461	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000239121	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs879255461
Clinvar_Rec_4858	rs876658421	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000219349	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658421
Clinvar_Rec_4859	rs80358935	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735599;RCV000113701;RCV000294899;RCV000203630;RCV000130876;RCV000590450;RCV000120356	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358935
Clinvar_Rec_4860	rs1555285987	Likely benign	Hereditary cancer-predisposing syndrome	RCV000562273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555285987
Clinvar_Rec_4861	rs1555286016	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509825	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286016
Clinvar_Rec_4862	rs1555286016	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000696784	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555286016
Clinvar_Rec_4863	rs730881593	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not specified	RCV000495264;RCV000216091;RCV000160239	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs730881593
Clinvar_Rec_4864	rs1566240857	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000704719	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566240857
Clinvar_Rec_4865	rs1555286018	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574963	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286018
Clinvar_Rec_4866	rs1555286018	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776916	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286018
Clinvar_Rec_4867	rs1566240981	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774475	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566240981
Clinvar_Rec_4868	rs886040693	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257608	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040693
Clinvar_Rec_4869	rs398122577	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561315	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs398122577
Clinvar_Rec_4870	rs398122577	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000076989;RCV000697809;RCV000214648	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs398122577
Clinvar_Rec_4871	rs80358950	Benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113734;RCV000163022;RCV000590755;RCV000223307	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358950
Clinvar_Rec_4872	rs397507906	Pathogenic	Breast-ovarian cancer, familial 2;not provided	RCV000241510;RCV000481646	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs397507906
Clinvar_Rec_4873	rs876659118	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000989062;RCV000800518;RCV000509739	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659118
Clinvar_Rec_4874	rs876659118	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000214221	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659118
Clinvar_Rec_4875	rs397507384	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000031670;RCV000772118	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs397507384
Clinvar_Rec_4876	rs483353118	Pathogenic	Breast-ovarian cancer, familial 2	RCV000113735	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs483353118
Clinvar_Rec_4877	rs1555286065	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000561500	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286065
Clinvar_Rec_4878	rs1555286073	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000571639;RCV000779961	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555286073
Clinvar_Rec_4879	rs1555286075	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661698	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555286075
Clinvar_Rec_4880	rs80358955	Benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113744;RCV000163011;RCV000045184;RCV000429461	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358955
Clinvar_Rec_4881	rs80358955	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000132510	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358955
Clinvar_Rec_4882	rs1555286076	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580311	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286076
Clinvar_Rec_4883	rs1555286076	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000698769	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555286076
Clinvar_Rec_4884	rs587780660	Likely benign	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495379;RCV000122927;RCV000163513;RCV000589434;RCV000160241	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs587780660
Clinvar_Rec_4885	rs1555286077	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000799628;RCV000509651	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555286077
Clinvar_Rec_4886	rs4986860	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000768607;RCV000113748;RCV000474872;RCV000305952;RCV000167852;RCV000162498;RCV000034458;RCV000120351	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs4986860
Clinvar_Rec_4887	rs4986860	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217934	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs4986860
Clinvar_Rec_4888	rs4986860	Benign	Breast-ovarian cancer, familial 2	RCV000191705	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571708
Clinvar_Rec_4889	rs4986860	Benign	Breast-ovarian cancer, familial 2	RCV000191706	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571710
Clinvar_Rec_4890	rs4986860	Benign	Breast-ovarian cancer, familial 2	RCV000191714	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs74047013
Clinvar_Rec_4891	rs4986860	Benign	Breast-ovarian cancer, familial 2	RCV000191715	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571712
Clinvar_Rec_4892	rs4986860	Benign	Breast-ovarian cancer, familial 2	RCV000191717	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571715
Clinvar_Rec_4893	rs886038165	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000241217;RCV001063008	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886038165
Clinvar_Rec_4894	rs767290713	Likely benign	Breast-ovarian cancer, familial 2	RCV000495343	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs767290713
Clinvar_Rec_4895	rs1064794968	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000535290	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1064794968
Clinvar_Rec_4896	rs398122580	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000076992;RCV000685760;RCV000213983;RCV000587585;RCV000417844	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398122580
Clinvar_Rec_4897	rs786202262	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000476898;RCV000164985	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202262
Clinvar_Rec_4898	rs80359648	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	RCV000031673;RCV000496844;RCV000985583	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs80359648
Clinvar_Rec_4899	rs1555286092	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564541	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555286092
Clinvar_Rec_4900	rs80359647	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000113749;RCV000685479;RCV000567456	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80359647
Clinvar_Rec_4901	rs1566241254	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774183	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566241254
Clinvar_Rec_4902	rs730881612	Pathogenic	Familial cancer of breast	RCV000160304	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs730881612
Clinvar_Rec_4903	rs1566241348	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000814272;RCV000776377;RCV000985584	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566241348
Clinvar_Rec_4904	rs879248686	Uncertain significance	Infiltrating duct carcinoma of breast	RCV000677845	MedGen;SNOMED CT	C1134719;408643008	no assertion criteria provided	tagSNP	rs879248686
Clinvar_Rec_4905	rs80358964	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113754;RCV000561349	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80358964
Clinvar_Rec_4906	rs80358964	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000531294;RCV000165122;RCV000656619	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358964
Clinvar_Rec_4907	rs1555286132	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000637881	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555286132
Clinvar_Rec_4908	rs1279226532	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000545901	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1279226532
Clinvar_Rec_4909	rs80358967	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000083134;RCV000129898;RCV000586632;RCV000045220	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358967
Clinvar_Rec_4910	rs1566241861	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000690621	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566241861
Clinvar_Rec_4911	rs397507946	Pathogenic	Breast-ovarian cancer, familial 2	RCV000258458	MedGen;OMIM	C2675520;612555	criteria provided, single submitter	tagSNP	rs397507946
Clinvar_Rec_4912	rs876659445	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000558779	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs876659445
Clinvar_Rec_4913	rs876659445	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215910	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659445
Clinvar_Rec_4914	rs786201180	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000537532;RCV000582257;RCV000985595	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786201180
Clinvar_Rec_4915	rs786201180	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000258212;RCV000637349;RCV000162937;RCV000586885;RCV000496302	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786201180
Clinvar_Rec_4916	rs80359044	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000539299;RCV001027120	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80359044
Clinvar_Rec_4917	rs80359044	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000113863;RCV000571107;RCV000212269	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80359044
Clinvar_Rec_4918	rs374625452	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213166	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs374625452
Clinvar_Rec_4919	rs80359061	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113878;RCV000223648	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs80359061
Clinvar_Rec_4920	rs80359061	not provided	Familial cancer of breast	RCV000577314	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs80359061
Clinvar_Rec_4921	rs11571743	Benign	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000113944;RCV000463336;RCV000206585;RCV000580360;RCV000857496;RCV000168608	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs11571743
Clinvar_Rec_4922	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191610	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs113496137
Clinvar_Rec_4923	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191613	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571628
Clinvar_Rec_4924	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191632	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571649
Clinvar_Rec_4925	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191730	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571723
Clinvar_Rec_4926	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191733	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571726
Clinvar_Rec_4927	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191757	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571738
Clinvar_Rec_4928	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191772	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs112870240
Clinvar_Rec_4929	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191794	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571767
Clinvar_Rec_4930	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191831	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs11571800
Clinvar_Rec_4931	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191849	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs7318434
Clinvar_Rec_4932	rs11571743	Benign	Breast-ovarian cancer, familial 2	RCV000191854	MedGen;OMIM	C2675520;612555	reviewed by expert panel	LD derived	rs7324145
Clinvar_Rec_4933	rs11571743	Benign	Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome	RCV000191871;RCV000297879;RCV000404048	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C2675520;612555;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145	reviewed by expert panel	LD derived	rs11571834
Clinvar_Rec_4934	rs1135401939	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000637949;RCV000776584;RCV000496828	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1135401939
Clinvar_Rec_4935	rs1566249453	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000697372;RCV000773820	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1566249453
Clinvar_Rec_4936	rs1555288470	Likely benign	Hereditary cancer-predisposing syndrome	RCV000570012	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555288470
Clinvar_Rec_4937	rs1566260287	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775865	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566260287
Clinvar_Rec_4938	rs876658460	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000494864;RCV000222182	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876658460
Clinvar_Rec_4939	rs1555289810	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637487	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555289810
Clinvar_Rec_4940	rs431825379	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000083008;RCV000468886;RCV000582783	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs431825379
Clinvar_Rec_4941	rs1555289926	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575147	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555289926
Clinvar_Rec_4942	rs779728869	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV001037673;RCV000165378;RCV000985630	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs779728869
Clinvar_Rec_4943	rs80359240	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000114156;RCV000045890;RCV000165570;RCV000587392;RCV000479353	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80359240
Clinvar_Rec_4944	rs1555289943	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000662591;RCV000637585;RCV000584682	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555289943
Clinvar_Rec_4945	rs886037805	Pathogenic	Breast-ovarian cancer, familial 2;Neoplasm of the breast	RCV000661790;RCV000240733	MedGen;OMIM;MeSH;MedGen;Orphanet;SNOMED CT	C2675520;612555;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	reviewed by expert panel	tagSNP	rs886037805
Clinvar_Rec_4946	rs730881576	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001019703;RCV000160179	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881576
Clinvar_Rec_4947	rs1566260970	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000696000	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566260970
Clinvar_Rec_4948	rs1060502467	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000467873	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060502467
Clinvar_Rec_4949	rs1060502467	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000693700	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060502467
Clinvar_Rec_4950	rs876658661	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000495633;RCV000217688;RCV000637883	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs876658661
Clinvar_Rec_4951	rs1566261010	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773848	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566261010
Clinvar_Rec_4952	rs1555289960	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637782	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555289960
Clinvar_Rec_4953	rs587781543	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580455	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781543
Clinvar_Rec_4954	rs587781543	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129557	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781543
Clinvar_Rec_4955	rs80359245	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000112815;RCV000564446	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80359245
Clinvar_Rec_4956	rs757664122	Likely benign	Breast-ovarian cancer, familial 2	RCV000494922	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs757664122
Clinvar_Rec_4957	rs587778127	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000817796;RCV000571496	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778127
Clinvar_Rec_4958	rs80359776	Pathogenic	Breast-ovarian cancer, familial 2	RCV000112818	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80359776
Clinvar_Rec_4959	rs886040854	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000256542;RCV000776118;RCV000755865	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs886040854
Clinvar_Rec_4960	rs1555290010	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000813529;RCV000579426	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555290010
Clinvar_Rec_4961	rs777488349	Likely benign	Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000494760;RCV000469115;RCV000163907;RCV000228048;RCV000501438	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs777488349
Clinvar_Rec_4962	rs1555290030	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582951	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555290030
Clinvar_Rec_4963	rs1555290031	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000558318	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555290031
Clinvar_Rec_4964	rs752218391	Likely benign	Breast-ovarian cancer, familial 2;not specified	RCV000495661;RCV000613575	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs752218391
Clinvar_Rec_4965	rs786201493	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495804;RCV000163747	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786201493
Clinvar_Rec_4966	rs80358393	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031301;RCV000167810;RCV000131701;RCV000034424;RCV000043714	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358393
Clinvar_Rec_4967	rs80358394	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000112842	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs80358394
Clinvar_Rec_4968	rs1060502452	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;not specified	RCV000461534;RCV000609346	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1060502452
Clinvar_Rec_4969	rs1555290049	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000775705;RCV000587368	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1555290049
Clinvar_Rec_4970	rs1566261458	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000695999;RCV001016960	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566261458
Clinvar_Rec_4971	rs747173903	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000637962;RCV000562630;RCV000438155	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747173903
Clinvar_Rec_4972	rs889208749	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000527103;RCV000563670;RCV000985458;RCV000612812	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs889208749
Clinvar_Rec_4973	rs776043746	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776666	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs776043746
Clinvar_Rec_4974	rs776043746	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495410;RCV000165363;RCV000198167;RCV000433251	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs776043746
Clinvar_Rec_4975	rs876660044	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000231576;RCV000220269	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660044
Clinvar_Rec_4976	rs80358404	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000112852;RCV000043730;RCV001017039;RCV000679152;RCV000500767	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358404
Clinvar_Rec_4977	rs1566189161	Pathogenic	CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME	RCV000785787	MedGen;OMIM	CN260096;618479	no assertion criteria provided	tagSNP	rs1566189161
Clinvar_Rec_4978	rs1060499524	Pathogenic	Troyer syndrome;not provided	RCV000003621;RCV001008821	MedGen;OMIM;Orphanet;SNOMED CT	C0393559;275900;ORPHA101000;230264003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060499524
Clinvar_Rec_4979	rs775736341	Pathogenic	Inborn genetic diseases;Troyer syndrome	RCV000624566;RCV000003622	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D030342;C0950123;MedGen;275900;ORPHA101000;230264003	criteria provided, single submitter	tagSNP	rs775736341
Clinvar_Rec_4980	rs146398746	Conflicting interpretations of pathogenicity	Troyer syndrome;not provided;not specified	RCV000198273;RCV000713449;RCV000592989	MedGen;OMIM;Orphanet;SNOMED CT	C0393559;275900;ORPHA101000;230264003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146398746
Clinvar_Rec_4981	rs754240018	Pathogenic	Bare lymphocyte syndrome 2	RCV000190356	MedGen;OMIM;Orphanet	C2931418;209920;ORPHA572	no assertion criteria provided	tagSNP	rs754240018
Clinvar_Rec_4982	rs147681674	Likely benign	Primary pulmonary hypertension	RCV000358927	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs147681674
Clinvar_Rec_4983	rs147681674	Likely benign	Primary pulmonary hypertension	RCV000393686	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs199957237
Clinvar_Rec_4984	rs886050165	Uncertain significance	Primary pulmonary hypertension	RCV000381652	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs886050165
Clinvar_Rec_4985	rs489646	Benign	Primary pulmonary hypertension	RCV000360797	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs489646
Clinvar_Rec_4986	rs489646	Benign	Primary pulmonary hypertension	RCV000348601	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs518086
Clinvar_Rec_4987	rs489646	Benign	Primary pulmonary hypertension	RCV000403691	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs517297
Clinvar_Rec_4988	rs489646	Benign	Primary pulmonary hypertension	RCV000270737	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs514501
Clinvar_Rec_4989	rs489646	Benign	Primary pulmonary hypertension	RCV000385079	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs671860
Clinvar_Rec_4990	rs489646	Benign	Primary pulmonary hypertension	RCV000391487	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs683296
Clinvar_Rec_4991	rs489646	Benign	Primary pulmonary hypertension	RCV000303581	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	LD derived	rs511674
Clinvar_Rec_4992	rs41292751	Likely benign	Fraser syndrome 1	RCV000344802	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs41292751
Clinvar_Rec_4993	rs41292751	Likely benign	Fraser syndrome 1	RCV000272988	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	LD derived	rs41292757
Clinvar_Rec_4994	rs886050189	Uncertain significance	Fraser syndrome 1	RCV000325670	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs886050189
Clinvar_Rec_4995	rs76419381	Uncertain significance	Fraser syndrome 1	RCV000363984	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs76419381
Clinvar_Rec_4996	rs746466859	Uncertain significance	Fraser syndrome 1	RCV000336003	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs746466859
Clinvar_Rec_4997	rs9577153	Likely benign	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	RCV000286144	MedGen;OMIM;Orphanet;SNOMED CT	C0268540;238970;ORPHA415;30287008	criteria provided, single submitter	tagSNP	rs9577153
Clinvar_Rec_4998	rs531113504	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000398790;RCV000360435	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs531113504
Clinvar_Rec_4999	rs587783431	Pathogenic	CHARGE association	RCV000145655	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs587783431
Clinvar_Rec_5000	rs554647169	Benign/Likely benign	CHARGE association;History of neurodevelopmental disorder;Hypogonadism with anosmia;not provided;not specified	RCV000258106;RCV000717586;RCV000297563;RCV000868776;RCV000194303	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs554647169
Clinvar_Rec_5001	rs886063033	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000367545;RCV000275238	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs886063033
Clinvar_Rec_5002	rs201653177	Conflicting interpretations of pathogenicity	CHARGE association;Hypogonadism with anosmia;not provided;not specified	RCV000282872;RCV000379877;RCV000858336;RCV000275596	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201653177
Clinvar_Rec_5003	rs539969845	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717088;RCV000588342;RCV000242796	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs111238892
Clinvar_Rec_5004	rs923306494	Uncertain significance	CHARGE association	RCV000768179	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs923306494
Clinvar_Rec_5005	rs756365280	Uncertain significance	History of neurodevelopmental disorder	RCV000717297	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs756365280
Clinvar_Rec_5006	rs41272437	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000715340;RCV000730848	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs41272437
Clinvar_Rec_5007	rs1060499560	Pathogenic	CHARGE association	RCV000474707	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1060499560
Clinvar_Rec_5008	rs587783452	Uncertain significance	CHARGE association	RCV000145685	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs587783452
Clinvar_Rec_5009	rs886063039	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000353074;RCV000298183	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs886063039
Clinvar_Rec_5010	rs1060503188	Pathogenic	CHARGE association	RCV000469838	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1060503188
Clinvar_Rec_5011	rs1060503188	Likely pathogenic	CHARGE association	RCV000770775	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1060503188
Clinvar_Rec_5012	rs754894988	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719439;RCV000867188;RCV000594650	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754894988
Clinvar_Rec_5013	rs769008751	Uncertain significance	History of neurodevelopmental disorder	RCV000719090	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs769008751
Clinvar_Rec_5014	rs748655442	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000371687;RCV000323991	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs748655442
Clinvar_Rec_5015	rs371417969	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000349484;RCV000387722	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs371417969
Clinvar_Rec_5016	rs1563580963	Pathogenic	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	RCV000761586	MedGen;OMIM;Orphanet	C1832167;601552;ORPHA412022	no assertion criteria provided	tagSNP	rs1563580963
Clinvar_Rec_5017	rs140573298	Likely pathogenic	Familial isolated deficiency of vitamin E	RCV000415204	MedGen;OMIM;Orphanet	C1848533;277460;ORPHA96	criteria provided, multiple submitters, no conflicts	LD derived	rs181109321
Clinvar_Rec_5018	rs140573298	Uncertain significance	Familial isolated deficiency of vitamin E	RCV000674001	MedGen;OMIM;Orphanet	C1848533;277460;ORPHA96	criteria provided, single submitter	LD derived	rs181109321
Clinvar_Rec_5019	rs1053079	Benign	Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;not provided;not specified	RCV000374042;RCV000677044;RCV000118641	MedGen	CN239153;MedGen	criteria provided, single submitter	tagSNP	rs1053079
Clinvar_Rec_5020	rs116019026	Uncertain significance	Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type	RCV000340880	MedGen	CN239153	criteria provided, single submitter	tagSNP	rs116019026
Clinvar_Rec_5021	rs532787830	Uncertain significance	Charcot-Marie-Tooth with Vocal Cord Paresis;Charcot-Marie-Tooth, Intermediate	RCV000386056;RCV000350163	MedGen	CN239254;MedGen	criteria provided, single submitter	tagSNP	rs532787830
Clinvar_Rec_5022	rs145245478	Uncertain significance	Charcot-Marie-Tooth with Vocal Cord Paresis;Charcot-Marie-Tooth, Intermediate	RCV000314066;RCV000277735	MedGen	CN239254;MedGen	criteria provided, single submitter	tagSNP	rs145245478
Clinvar_Rec_5023	rs146801654	Likely benign	Cleidocranial dysostosis	RCV000339000	MedGen;OMIM;Orphanet;SNOMED CT	C0008928;119600;ORPHA1452;65976001	criteria provided, single submitter	tagSNP	rs146801654
Clinvar_Rec_5024	rs78935067	Likely benign	Cleidocranial dysostosis	RCV000395104	MedGen;OMIM;Orphanet;SNOMED CT	C0008928;119600;ORPHA1452;65976001	criteria provided, single submitter	tagSNP	rs78935067
Clinvar_Rec_5025	rs886061550	Uncertain significance	Focal segmental glomerulosclerosis	RCV000382018	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs886061550
Clinvar_Rec_5026	rs9463478	Benign	Methylmalonic acidemia;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not specified	RCV000372712;RCV000612635;RCV000078444	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;OMIM;Orphanet	HP;C537358;C0268583;42393006;MedGen;251000;ORPHA27;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs8589
Clinvar_Rec_5027	rs9463478	Benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000203350	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	no assertion criteria provided	LD derived	rs8589
Clinvar_Rec_5028	rs9463478	Benign	Methylmalonic acidemia;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not specified	RCV000276310;RCV000612201;RCV000078447	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;OMIM;Orphanet	HP;C537358;C0268583;42393006;MedGen;251000;ORPHA27;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2229384
Clinvar_Rec_5029	rs9463478	Benign	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000203353	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	no assertion criteria provided	LD derived	rs2229384
Clinvar_Rec_5030	rs121918254	Likely pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000673187	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	criteria provided, single submitter	tagSNP	rs121918254
Clinvar_Rec_5031	rs121918254	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	RCV000001961;RCV000203390;RCV000427444	MedGen;OMIM;Orphanet	C1855115;MedGen;251000;ORPHA27;MedGen	criteria provided, single submitter	tagSNP	rs121918254
Clinvar_Rec_5032	rs190834116	Uncertain significance	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000415260	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	criteria provided, single submitter	tagSNP	rs190834116
Clinvar_Rec_5033	rs190834116	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000203360	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	no assertion criteria provided	tagSNP	rs190834116
Clinvar_Rec_5034	rs587777671	Pathogenic	Spinocerebellar ataxia 38	RCV000133588	MedGen;OMIM;Orphanet	C4518337;615957;ORPHA423296	no assertion criteria provided	tagSNP	rs587777671
Clinvar_Rec_5035	rs1444942164	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000625439	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1444942164
Clinvar_Rec_5036	rs4715631	Benign	Neuropathy, hereditary sensory and autonomic, type VI	RCV000608135	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	no assertion criteria provided	tagSNP	rs4715631
Clinvar_Rec_5037	rs13194995	Benign	Neuropathy, hereditary sensory and autonomic, type VI	RCV000389754	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	LD derived	rs3841165
Clinvar_Rec_5038	rs13194995	Benign	Neuropathy, hereditary sensory and autonomic, type VI	RCV000349231	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	LD derived	rs3841165
Clinvar_Rec_5039	rs373440035	Uncertain significance	Charcot-Marie-Tooth disease;Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV001027494;RCV000691413;RCV000691413	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs373440035
Clinvar_Rec_5040	rs199558360	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000289446	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs199558360
Clinvar_Rec_5041	rs79943354	Benign/Likely benign	Neuropathy, hereditary sensory and autonomic, type VI;not provided	RCV000286688;RCV000555313	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79943354
Clinvar_Rec_5042	rs79943354	Benign/Likely benign	Neuropathy, hereditary sensory and autonomic, type VI;not provided	RCV000376372;RCV000529156	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78701610
Clinvar_Rec_5043	rs1554504820	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000651723;RCV000651723	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1554504820
Clinvar_Rec_5044	rs80337136	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000363714	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs80337136
Clinvar_Rec_5045	rs571317621	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000284273	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs571317621
Clinvar_Rec_5046	rs770035646	Pathogenic	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000688797;RCV000688797	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs770035646
Clinvar_Rec_5047	rs886061648	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000324591	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs886061648
Clinvar_Rec_5048	rs1469921824	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000651722;RCV000651722	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1469921824
Clinvar_Rec_5049	rs886061650	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000393776	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs886061650
Clinvar_Rec_5050	rs121908171	Pathogenic	Carpenter syndrome;Carpenter syndrome 1;Inborn genetic diseases;not provided	RCV000791402;RCV000004853;RCV000622686;RCV000407501	MedGen;Orphanet;OMIM;MedGen	C1275078;ORPHA65759;MedGen;201000;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908171
Clinvar_Rec_5051	rs3916	Benign	Deficiency of butyryl-CoA dehydrogenase;not specified	RCV000304984;RCV000243252	MedGen;OMIM;Orphanet;SNOMED CT	C0342783;201470;ORPHA26792;124166007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3916
Clinvar_Rec_5052	rs868177605	Uncertain significance	Maturity onset diabetes mellitus in young	RCV000349638	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs868177605
Clinvar_Rec_5053	rs76653972	Benign	Maturity-onset diabetes of the young, type 3;not provided;not specified	RCV000030496;RCV000861382;RCV000121189	MedGen;OMIM	C1838100;600496;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78772552
Clinvar_Rec_5054	rs76653972	Likely benign	Maturity-onset diabetes of the young, type 3;Monogenic diabetes;not provided;not specified	RCV000988923;RCV000445458;RCV000835062;RCV000121197	MedGen;OMIM;Orphanet	C1838100;600496;MedGen;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115080759
Clinvar_Rec_5055	rs587777667	Pathogenic	Spastic paraplegia 55, autosomal recessive	RCV000133580	MedGen;OMIM;Orphanet	C3539506;615035;ORPHA320375	no assertion criteria provided	tagSNP	rs587777667
Clinvar_Rec_5056	rs398122365	Pathogenic	Spastic paraplegia 55, autosomal recessive	RCV000074452	MedGen;OMIM;Orphanet	C3539506;615035;ORPHA320375	no assertion criteria provided	tagSNP	rs398122365
Clinvar_Rec_5057	rs1533703	Benign	Combined oxidative phosphorylation deficiency	RCV000398841	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs1533703
Clinvar_Rec_5058	rs886049046	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000401882	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886049046
Clinvar_Rec_5059	rs1707722	Benign/Likely benign	Leukoencephalopathy with vanishing white matter;not provided	RCV000350072;RCV000947503	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73414297
Clinvar_Rec_5060	rs886049049	Uncertain significance	Leukoencephalopathy with vanishing white matter	RCV000366592	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	tagSNP	rs886049049
Clinvar_Rec_5061	rs1050449	Benign	Leukoencephalopathy with vanishing white matter	RCV000377491	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	tagSNP	rs1050449
Clinvar_Rec_5062	rs73416301	Benign/Likely benign	Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified	RCV000400592;RCV000359334;RCV000470944;RCV000114229	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73416301
Clinvar_Rec_5063	rs73416301	Benign/Likely benign	Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified	RCV000344506;RCV000289495;RCV000470063;RCV000114233	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73416299
Clinvar_Rec_5064	rs73416301	Benign/Likely benign	Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified	RCV000326549;RCV000378780;RCV000456415;RCV000114234	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73418153
Clinvar_Rec_5065	rs73416301	Likely benign	Cutis laxa, recessive;Joubert syndrome;Meckel-Gruber syndrome	RCV000346228;RCV000353110;RCV000300538	MedGen;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	C2931134;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005	criteria provided, single submitter	LD derived	rs112525270
Clinvar_Rec_5066	rs771335558	Uncertain significance	Joubert syndrome;Meckel-Gruber syndrome	RCV000531923;RCV000531923	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005	criteria provided, single submitter	tagSNP	rs771335558
Clinvar_Rec_5067	rs113415183	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000709206	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs113415183
Clinvar_Rec_5068	rs1565574166	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000709227	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565574166
Clinvar_Rec_5069	rs144739734	Uncertain significance	Lactate dehydrogenase B deficiency	RCV000303242	MedGen;OMIM	C1835592;614128	criteria provided, single submitter	tagSNP	rs144739734
Clinvar_Rec_5070	rs730880120	Uncertain significance	Brugada syndrome;Cardiac arrhythmia	RCV000692088;RCV000157274	MedGen;Orphanet;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;115000	criteria provided, single submitter	tagSNP	rs730880120
Clinvar_Rec_5071	rs143319002	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000619265;RCV000862875;RCV000601363	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143319002
Clinvar_Rec_5072	rs143319002	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000245470;RCV000726102;RCV000291228	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143319002
Clinvar_Rec_5073	rs121913240	Pathogenic/Likely pathogenic	Neoplasm of the large intestine;Neoplasm of the thyroid gland	RCV000429766;RCV000419507	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet	HP;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087	no assertion criteria provided	tagSNP	rs121913240
Clinvar_Rec_5074	rs121913240	Pathogenic	Neoplasm of the large intestine;Neoplasm of the thyroid gland;Non-small cell lung cancer;Noonan syndrome	RCV000420152;RCV000438012;RCV000431260;RCV000038257	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;SNOMED CT;MedGen;Orphanet;SNOMED CT	HP;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087;Human Phenotype Ontology;D002289;C0007131;254637007;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs121913240
Clinvar_Rec_5075	rs121913240	Pathogenic	Medullary thyroid carcinoma;Multiple myeloma;Neoplasm of the large intestine;Neoplasm of the thyroid gland;Non-small cell lung cancer	RCV000202407;RCV000984128;RCV000443593;RCV000437806;RCV000038258	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;SNOMED CT	HP;C536914;C0238462;ORPHA1332;255032005;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087;Human Phenotype Ontology;D002289;C0007131;254637007	criteria provided, single submitter	tagSNP	rs121913240
Clinvar_Rec_5076	rs121913238	Likely pathogenic	Neoplasm of the large intestine	RCV000422828	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;D015179;C0009404;126837005	no assertion criteria provided	tagSNP	rs121913238
Clinvar_Rec_5077	rs121913238	Pathogenic	Neoplasm of the large intestine;Neoplasm of the thyroid gland;Non-small cell lung cancer	RCV000440889;RCV000423236;RCV000154402	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;SNOMED CT	HP;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087;Human Phenotype Ontology;D002289;C0007131;254637007	criteria provided, single submitter	tagSNP	rs121913238
Clinvar_Rec_5078	rs727503108	Pathogenic	Cardio-facio-cutaneous syndrome;Non-small cell lung cancer;Noonan syndrome;not provided	RCV000157936;RCV000150889;RCV000157936;RCV000212500	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1275081;ORPHA1340;403770008;Human Phenotype Ontology;D002289;C0007131;254637007;MeSH;C0028326;ORPHA648;205824006;MedGen	criteria provided, single submitter	tagSNP	rs727503108
Clinvar_Rec_5079	rs104894359	Pathogenic	Cardio-facio-cutaneous syndrome;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 2;Noonan syndrome;Rasopathy;not provided	RCV000521390;RCV000844635;RCV000013416;RCV000844635;RCV000157935;RCV000254661	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT;Orphanet	C1275081;ORPHA1340;403770008;MedGen;ORPHA1340;403770008;MedGen;615278;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs104894359
Clinvar_Rec_5080	rs104894359	Pathogenic	Noonan syndrome 3;Rasopathy;not provided	RCV000013428;RCV000689097;RCV000157934	MedGen;OMIM;Orphanet	C1860991;609942;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104894359
Clinvar_Rec_5081	rs104894361	Pathogenic	Cardiofaciocutaneous syndrome 2;Inborn genetic diseases;Noonan syndrome;not provided	RCV000013425;RCV000623267;RCV000520745;RCV000153427	MedGen;OMIM;MedGen;MedGen;Orphanet;SNOMED CT	C3809005;615278;MeSH;C0950123;MeSH;C0028326;ORPHA648;205824006;MedGen	reviewed by expert panel	tagSNP	rs104894361
Clinvar_Rec_5082	rs1555124505	Likely pathogenic	Inborn genetic diseases	RCV000622612	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555124505
Clinvar_Rec_5083	rs534326950	Uncertain significance	Mitochondrial DNA depletion syndrome	RCV000306860	MedGen;Orphanet	C0342782;ORPHA35698	criteria provided, single submitter	LD derived	rs369868888
Clinvar_Rec_5084	rs139453193	Uncertain significance	Norum disease	RCV000338613	MedGen;OMIM;Orphanet	C0023195;245900;ORPHA650	criteria provided, single submitter	tagSNP	rs139453193
Clinvar_Rec_5085	rs73612692	Benign	Dyskeratosis congenita, autosomal dominant 6	RCV000556688	MedGen;OMIM	C4225284;616553	criteria provided, single submitter	LD derived	rs73597595
Clinvar_Rec_5086	rs1060501241	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000575896;RCV000468950	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501241
Clinvar_Rec_5087	rs115408226	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000160396;RCV000168234;RCV000212379	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115408226
Clinvar_Rec_5088	rs1555517099	Pathogenic	Blepharocheilodontic syndrome 1	RCV000505788	MedGen;OMIM	C4551988;119580	no assertion criteria provided	tagSNP	rs1555517099
Clinvar_Rec_5089	rs766222121	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566098	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs766222121
Clinvar_Rec_5090	rs876660086	Uncertain significance	Hereditary diffuse gastric cancer	RCV000472121	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs876660086
Clinvar_Rec_5091	rs876660086	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000213124;RCV000467419	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660086
Clinvar_Rec_5092	rs863224728	Uncertain significance	Hereditary diffuse gastric cancer	RCV000196588	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs863224728
Clinvar_Rec_5093	rs1247754103	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000568605;RCV000781208	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1247754103
Clinvar_Rec_5094	rs1247754103	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773015	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1247754103
Clinvar_Rec_5095	rs1485384861	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563765	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1485384861
Clinvar_Rec_5096	rs760315494	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000567602;RCV000420081	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760315494
Clinvar_Rec_5097	rs765978401	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV001015954;RCV000639259	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs765978401
Clinvar_Rec_5098	rs1567517789	Uncertain significance	Hereditary diffuse gastric cancer	RCV000704078	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1567517789
Clinvar_Rec_5099	rs587782025	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000130458;RCV000200282;RCV000483138	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782025
Clinvar_Rec_5100	rs1060501245	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000561082;RCV000462875	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501245
Clinvar_Rec_5101	rs1060501245	Uncertain significance	Hereditary diffuse gastric cancer	RCV000704728	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1060501245
Clinvar_Rec_5102	rs1555518283	Uncertain significance	Hereditary diffuse gastric cancer	RCV000542909	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555518283
Clinvar_Rec_5103	rs1555518285	Likely benign	Hereditary diffuse gastric cancer	RCV000639327	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555518285
Clinvar_Rec_5104	rs1555518287	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581138	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555518287
Clinvar_Rec_5105	rs753123245	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571884	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs753123245
Clinvar_Rec_5106	rs876658326	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000214927	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658326
Clinvar_Rec_5107	rs13689	Benign	Hereditary diffuse gastric cancer	RCV000375550	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs13689
Clinvar_Rec_5108	rs886052249	Uncertain significance	Congenital disorder of glycosylation	RCV000314237	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886052249
Clinvar_Rec_5109	rs886052250	Uncertain significance	Congenital disorder of glycosylation	RCV000356279	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886052250
Clinvar_Rec_5110	rs779989621	Likely benign	Immunodeficiency	RCV000631396	Human Phenotype Ontology;MedGen	HP;C0021051	criteria provided, single submitter	tagSNP	rs779989621
Clinvar_Rec_5111	rs61730073	Benign	Immunodeficiency	RCV000526473	Human Phenotype Ontology;MedGen	HP;C0021051	criteria provided, single submitter	tagSNP	rs61730073
Clinvar_Rec_5112	rs1555534920	Uncertain significance	Immunodeficiency	RCV000631387	Human Phenotype Ontology;MedGen	HP;C0021051	criteria provided, single submitter	tagSNP	rs1555534920
Clinvar_Rec_5113	rs4081753	Benign	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2N;not provided	RCV000364752;RCV000606519;RCV000860202	MedGen;Orphanet;OMIM;Orphanet	C0270914;ORPHA64746;MedGen;613287;ORPHA228174;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4081753
Clinvar_Rec_5114	rs1567601050	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000698678	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1567601050
Clinvar_Rec_5115	rs765977339	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000693568	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs765977339
Clinvar_Rec_5116	rs1555540045	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000654005	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1555540045
Clinvar_Rec_5117	rs61747639	Conflicting interpretations of pathogenicity	Miller syndrome;not provided;not specified	RCV000372598;RCV000906107;RCV000246224	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61747639
Clinvar_Rec_5118	rs750442401	Uncertain significance	Miller syndrome	RCV000302992	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001	criteria provided, single submitter	tagSNP	rs750442401
Clinvar_Rec_5119	rs147792232	Uncertain significance	Miller syndrome	RCV000357752	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001	criteria provided, single submitter	tagSNP	rs147792232
Clinvar_Rec_5120	rs864309690	Pathogenic/Likely pathogenic	Cataract 30;Congenital cataract	RCV000488584;RCV000203397	MedGen;OMIM;Orphanet;MedGen;SNOMED CT	C3805411;116300;ORPHA98984;Human Phenotype Ontology;C0009691;79410001	no assertion criteria provided	tagSNP	rs864309690
Clinvar_Rec_5121	rs1085307141	Uncertain significance	Cataract 30	RCV000488719	MedGen;OMIM;Orphanet	C3805411;116300;ORPHA98984	criteria provided, single submitter	tagSNP	rs1085307141
Clinvar_Rec_5122	rs34503140	Benign/Likely benign	Brugada syndrome;Cardiovascular phenotype;not provided	RCV000269229;RCV000620685;RCV000755890	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34503140
Clinvar_Rec_5123	rs58225473	Benign/Likely benign	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	RCV000293666;RCV000253056;RCV000860347;RCV000124111	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs58225473
Clinvar_Rec_5124	rs3824692	Likely benign	Thrombocytopenia	RCV000382004	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	tagSNP	rs3824692
Clinvar_Rec_5125	rs41282214	Uncertain significance	Thrombocytopenia	RCV000343410	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	tagSNP	rs41282214
Clinvar_Rec_5126	rs886046969	Uncertain significance	Warburg micro syndrome	RCV000327616	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs886046969
Clinvar_Rec_5127	rs76051289	Likely benign	Warburg micro syndrome	RCV000368286	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs76051289
Clinvar_Rec_5128	rs10508722	Likely benign	Warburg micro syndrome	RCV000273807	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs10508722
Clinvar_Rec_5129	rs770434733	Uncertain significance	Warburg micro syndrome	RCV000269855	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs770434733
Clinvar_Rec_5130	rs559210033	Uncertain significance	Fanconi anemia	RCV000457751	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs377309460
Clinvar_Rec_5131	rs115846873	Benign	Gnathodiaphyseal dysplasia;not provided;not specified	RCV000988502;RCV000551276;RCV000116355	MedGen;OMIM;Orphanet	C1833736;166260;ORPHA53697;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78266558
Clinvar_Rec_5132	rs201285915	Uncertain significance	Fanconi anemia, complementation group F;not provided	RCV000779056;RCV000482395	MedGen;OMIM	C3469526;603467;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201285915
Clinvar_Rec_5133	rs751274756	Likely benign	Fanconi anemia	RCV000630996	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs751274756
Clinvar_Rec_5134	rs1060501872	Uncertain significance	Fanconi anemia	RCV000472186	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1060501872
Clinvar_Rec_5135	rs730880277	Pathogenic	Fanconi anemia;Fanconi anemia, complementation group F	RCV000472440;RCV000006712	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;603467	criteria provided, single submitter	tagSNP	rs730880277
Clinvar_Rec_5136	rs1553802469	Uncertain significance	Severe congenital neutropenia 5, autosomal recessive	RCV000700076	MedGen;OMIM;Orphanet	C3809031;615285;ORPHA369852	criteria provided, single submitter	tagSNP	rs1553802469
Clinvar_Rec_5137	rs114181942	Uncertain significance	Ectopia lentis	RCV000319056	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs114181942
Clinvar_Rec_5138	rs114181942	Conflicting interpretations of pathogenicity	Ectopia lentis;not provided	RCV000297524;RCV000967919	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002;MedGen	criteria provided, conflicting interpretations	LD derived	rs115937511
Clinvar_Rec_5139	rs1186393634	Uncertain significance	Severe Myopia	RCV000785738	Human Phenotype Ontology;MedGen	HP;C0271183	no assertion criteria provided	tagSNP	rs1186393634
Clinvar_Rec_5140	rs145126650	Uncertain significance	Pyknodysostosis;not provided	RCV000369796;RCV000295068	MedGen;OMIM;Orphanet;SNOMED CT	C0238402;265800;ORPHA763;89647000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200480574
Clinvar_Rec_5141	rs146341254	Uncertain significance	Bare lymphocyte syndrome 2	RCV000552776	MedGen;OMIM;Orphanet	C2931418;209920;ORPHA572	criteria provided, single submitter	tagSNP	rs146341254
Clinvar_Rec_5142	rs370498156	association	Autism spectrum disorder	RCV000754505	MedGen;Orphanet	C1510586;ORPHA106	no assertion criteria provided	tagSNP	rs370498156
Clinvar_Rec_5143	rs35198305	Benign	History of neurodevelopmental disorder;not provided	RCV000715584;RCV000955777	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35198305
Clinvar_Rec_5144	rs556553243	Likely benign	History of neurodevelopmental disorder	RCV000717860	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs556553243
Clinvar_Rec_5145	rs1557863070	Uncertain significance	History of neurodevelopmental disorder	RCV000719848	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1557863070
Clinvar_Rec_5146	rs869312834	Pathogenic	White-sutton syndrome	RCV000210306	MedGen;OMIM;Orphanet	C4225351;616364;ORPHA468678	no assertion criteria provided	tagSNP	rs869312834
Clinvar_Rec_5147	rs1557867853	association	Autism spectrum disorder	RCV000754520	MedGen;Orphanet	C1510586;ORPHA106	no assertion criteria provided	tagSNP	rs1557867853
Clinvar_Rec_5148	rs1553213060	Pathogenic	White-sutton syndrome	RCV000677635	MedGen;OMIM;Orphanet	C4225351;616364;ORPHA468678	criteria provided, single submitter	tagSNP	rs1553213060
Clinvar_Rec_5149	rs864321673	Pathogenic	White-sutton syndrome	RCV000203582	MedGen;OMIM;Orphanet	C4225351;616364;ORPHA468678	no assertion criteria provided	tagSNP	rs864321673
Clinvar_Rec_5150	rs142434646	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717132;RCV000923213	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142434646
Clinvar_Rec_5151	rs558269137	Conflicting interpretations of pathogenicity	Dermatitis, atopic, 2;Dermatitis, atopic, 2;Dermatitis, atopic, 2, susceptibility to;FLG-Related Disorder;Ichthyosis vulgaris;Ichthyosis vulgaris;not provided	RCV000191085;RCV000678372;RCV000017715;RCV000709934;RCV000017714;RCV000191085;RCV000256057	MedGen;OMIM;OMIM;OMIM;OMIM	C1853965;605803;MedGen;605803;MedGen;146700;MedGen;146700;MedGen	criteria provided, conflicting interpretations	tagSNP	rs558269137
Clinvar_Rec_5152	rs1060499587	Likely pathogenic	Ichthyosis vulgaris	RCV000477947	MedGen;OMIM	C0079584;146700	no assertion criteria provided	tagSNP	rs1060499587
Clinvar_Rec_5153	rs1553248515	Pathogenic	Congenital myopathy with fiber type disproportion;Nemaline myopathy 1	RCV000524673;RCV000524673	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0546264;255310;ORPHA2020;240084007;MedGen;609284	criteria provided, single submitter	tagSNP	rs1553248515
Clinvar_Rec_5154	rs749792884	Uncertain significance	Congenital fiber-type disproportion;Nemaline myopathy	RCV000390605;RCV000342262	MedGen;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA607;75072002	criteria provided, single submitter	tagSNP	rs749792884
Clinvar_Rec_5155	rs367548433	Uncertain significance	Congenital fiber-type disproportion;Nemaline myopathy	RCV000297760;RCV000336326	MedGen;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA607;75072002	criteria provided, single submitter	tagSNP	rs367548433
Clinvar_Rec_5156	rs763746492	Uncertain significance	Severe congenital neutropenia 3, autosomal recessive	RCV000702882	MedGen;OMIM;Orphanet	CN032247;610738;ORPHA99749	criteria provided, single submitter	tagSNP	rs763746492
Clinvar_Rec_5157	rs12130403	drug response	nicotine response - Efficacy, Toxicity/ADR	RCV000417150	MedGen	CN240602	reviewed by expert panel	LD derived	rs2072661
Clinvar_Rec_5158	rs12130403	Benign	Symmetrical dyschromatosis of extremities	RCV000330411	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	LD derived	rs1127317
Clinvar_Rec_5159	rs12130403	Benign	Symmetrical dyschromatosis of extremities	RCV000274387	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	LD derived	rs16361
Clinvar_Rec_5160	rs12130403	Benign	Symmetrical dyschromatosis of extremities;not specified	RCV000321833;RCV000249653	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1127309
Clinvar_Rec_5161	rs886045327	Uncertain significance	Symmetrical dyschromatosis of extremities	RCV000295400	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs886045327
Clinvar_Rec_5162	rs749677748	Uncertain significance	Symmetrical dyschromatosis of extremities	RCV000316664	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs749677748
Clinvar_Rec_5163	rs780284489	Uncertain significance	Symmetrical dyschromatosis of extremities	RCV000267426	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs780284489
Clinvar_Rec_5164	rs1456341426	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities	RCV000703104;RCV000703104	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs1456341426
Clinvar_Rec_5165	rs763575197	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities;not provided	RCV001049975;RCV001049975;RCV000437387	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763575197
Clinvar_Rec_5166	rs1557887436	Uncertain significance	Aplasia cutis congenita (disease);Aplasia/Hypoplasia of the nails;Aplastic/hypoplastic toenail;Hypermelanotic macule;Hyperpigmented/hypopigmented macules;Hypoplastic toenails;Mild global developmental delay;Pterygium of nails;Punctate palmoplantar hyperkeratosis;Small nail	RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381;RCV000735381	Human Phenotype Ontology;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;Orphanet;MedGen	HP;C0282160;107600;ORPHA1114;Human Phenotype Ontology;C1859077;Human Phenotype Ontology;C1856749;Human Phenotype Ontology;C1842774;Human Phenotype Ontology;C4024877;Human Phenotype Ontology;C1837279;Human Phenotype Ontology;C4012968;Human Phenotype Ontology;C0406438;Human Phenotype Ontology;C4024851;ORPHA307967;Human Phenotype Ontology;C0263523	criteria provided, single submitter	tagSNP	rs1557887436
Clinvar_Rec_5167	rs1557887942	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities	RCV000686025;RCV000686025	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs1557887942
Clinvar_Rec_5168	rs886045345	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities;Symmetrical dyschromatosis of extremities;not provided	RCV001057285;RCV000404889;RCV001057285;RCV000994114	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000;MedGen;127400;ORPHA41;239085000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886045345
Clinvar_Rec_5169	rs876661311	Pathogenic	Glutaric aciduria, type 2;Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	RCV000223939;RCV000234842	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0268596;231680;ORPHA26791;22886006;MedGen;255100	criteria provided, single submitter	tagSNP	rs876661311
Clinvar_Rec_5170	rs1064644	Pathogenic	Acute neuronopathic Gaucher's disease;Gaucher disease;Gaucher disease type 3C;Gaucher disease, perinatal lethal;Gaucher's disease, type 1;Subacute neuronopathic Gaucher's disease	RCV001004129;RCV000020157;RCV001004129;RCV000625849;RCV001004129;RCV001004129	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268250;230900;ORPHA77260;12246008;MedGen;ORPHA355;MedGen;231005;ORPHA2072;MedGen;608013;ORPHA85212;MedGen;230800;ORPHA77259;62201009;MedGen;231000;ORPHA77261;5963005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064644
Clinvar_Rec_5171	rs371872906	Uncertain significance	Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency of red cells;not provided	RCV000764980;RCV000764980;RCV000522980	MedGen;OMIM;OMIM;Orphanet	C1863224;102900;MedGen;266200;ORPHA766;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201217064
Clinvar_Rec_5172	rs555757892	Uncertain significance	Pyruvate kinase deficiency of red cells;not specified	RCV000309349;RCV001002032	MedGen;OMIM;Orphanet	C0340968;266200;ORPHA766;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200133000
Clinvar_Rec_5173	rs1557962794	Pathogenic	Noonan syndrome 1;Noonan syndrome 8	RCV000856799;RCV000704832	MedGen;OMIM;OMIM	C4551602;163950;MedGen;615355	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557962794
Clinvar_Rec_5174	rs869312687	Conflicting interpretations of pathogenicity	Downslanted palpebral fissures;Edema of the lower limbs;Hypertelorism;Noonan syndrome 8;Short stature;not provided;not specified	RCV000626786;RCV000626786;RCV000626786;RCV000209835;RCV000626786;RCV000680368;RCV000521893	Human Phenotype Ontology;MedGen;MedGen;MedGen;OMIM;OMIM;MedGen	HP;C0423110;Human Phenotype Ontology;C0239340;Human Phenotype Ontology;C0020534;145400;MedGen;615355;Human Phenotype Ontology;C0349588;MedGen	criteria provided, conflicting interpretations	tagSNP	rs869312687
Clinvar_Rec_5175	rs552235785	Likely benign	Cardiovascular phenotype;not provided	RCV000621804;RCV000831068	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140800215
Clinvar_Rec_5176	rs57966821	Uncertain significance	Charcot-Marie-Tooth disease;not provided	RCV000790002;RCV000057498	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs57966821
Clinvar_Rec_5177	rs1057518971	Likely pathogenic	Congenital muscular dystrophy	RCV000415420	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0699743;ORPHA97242;240059009	criteria provided, single submitter	tagSNP	rs1057518971
Clinvar_Rec_5178	rs886038801	Likely benign	Cardiovascular phenotype	RCV000250582	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038801
Clinvar_Rec_5179	rs869025456	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000543428	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs869025456
Clinvar_Rec_5180	rs869025456	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000208154	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs869025456
Clinvar_Rec_5181	rs28933091	Pathogenic	Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided	RCV000794743;RCV000015572;RCV000211789;RCV000057425	MedGen;Orphanet;OMIM;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C0270914;ORPHA64746;MedGen;115200;ORPHA300751;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28933091
Clinvar_Rec_5182	rs28933092	Pathogenic	Dilated cardiomyopathy 1A;Primary dilated cardiomyopathy;not provided	RCV000015573;RCV000211791;RCV000057428	MedGen;OMIM;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C1449563;115200;ORPHA300751;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, single submitter	tagSNP	rs28933092
Clinvar_Rec_5183	rs1553265177	Uncertain significance	Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2	RCV000618027;RCV001067181	MedGen;Orphanet	CN230736;MedGen;ORPHA64746	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553265177
Clinvar_Rec_5184	rs1553265180	Likely pathogenic	Dilated cardiomyopathy 1A	RCV000623152	MedGen;OMIM;Orphanet	C1449563;115200;ORPHA300751	criteria provided, single submitter	tagSNP	rs1553265180
Clinvar_Rec_5185	rs1553265180	Uncertain significance	Familial dilated cardiomyopathy	RCV000627143	MedGen;Orphanet	C0340427;ORPHA217607	criteria provided, single submitter	tagSNP	rs1553265180
Clinvar_Rec_5186	rs1558129629	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000696655	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1558129629
Clinvar_Rec_5187	rs80356809	Benign/Likely benign	Cardiomyopathy;Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Dilated Cardiomyopathy, Dominant;Emery-Dreifuss muscular dystrophy;Familial partial lipodystrophy;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Limb-Girdle Muscular Dystrophy, Recessive;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Mandibuloacral dysplasia;not provided;not specified	RCV000771102;RCV000294723;RCV000335689;RCV000406731;RCV000361342;RCV000406740;RCV000300601;RCV000268196;RCV000325561;RCV000271656;RCV000301904;RCV000057470;RCV000041372	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA64746;MedGen;613205;ORPHA157973;MedGen;ORPHA261;111508004;MedGen;ORPHA98306;49292002;MedGen;176670;ORPHA740;238870004;MedGen;275210;ORPHA1662;400128006;MedGen;ORPHA2457;109419009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80356809
Clinvar_Rec_5188	rs876657649	Likely pathogenic	Laminopathy	RCV000223064	MedGen;Orphanet	CN236383;ORPHA98301	criteria provided, single submitter	tagSNP	rs876657649
Clinvar_Rec_5189	rs1270221130	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000703949	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1270221130
Clinvar_Rec_5190	rs1553265999	Likely pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	RCV000578339	MedGen;OMIM;Orphanet;SNOMED CT	C0410190;181350;ORPHA98853;240072005	criteria provided, single submitter	tagSNP	rs1553265999
Clinvar_Rec_5191	rs1553266024	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, type 2;not provided	RCV000525920;RCV000599572	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553266024
Clinvar_Rec_5192	rs267607582	Pathogenic	Heart-hand syndrome, Slovenian type;not provided	RCV000015618;RCV000057337	MedGen;OMIM;Orphanet	C1857829;610140;ORPHA168796;MedGen	no assertion criteria provided	tagSNP	rs267607582
Clinvar_Rec_5193	rs533587041	Likely benign	History of neurodevelopmental disorder	RCV000720264	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs533587041
Clinvar_Rec_5194	rs886045440	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000335590	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs886045440
Clinvar_Rec_5195	rs147588784	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 3;not provided	RCV000459835;RCV000561060;RCV000459835;RCV000759344	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;605373;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148566767
Clinvar_Rec_5196	rs377566366	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 3	RCV000465673;RCV000465673	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;605373	criteria provided, single submitter	tagSNP	rs377566366
Clinvar_Rec_5197	rs779727693	Uncertain significance	Pheochromocytoma	RCV000354127	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs779727693
Clinvar_Rec_5198	rs876659297	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000218349;RCV000552112	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659297
Clinvar_Rec_5199	rs754818119	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 3	RCV000707254;RCV000707254	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;605373	criteria provided, single submitter	tagSNP	rs754818119
Clinvar_Rec_5200	rs878854588	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 3	RCV000233108;RCV001018077;RCV000233108	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;605373	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854588
Clinvar_Rec_5201	rs36097930	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Pheochromocytoma;not provided;not specified	RCV000561133;RCV000259221;RCV000759342;RCV000248539	MedGen;Orphanet;SNOMED CT;MedGen;OMIM	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs36097930
Clinvar_Rec_5202	rs552822825	Likely benign	Adams-Oliver syndrome 5;not provided	RCV000534494;RCV000840854	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200630233
Clinvar_Rec_5203	rs373574599	Uncertain significance	Familial Candidiasis, Recessive	RCV000385916	MedGen	CN239217	criteria provided, single submitter	tagSNP	rs373574599
Clinvar_Rec_5204	rs373574599	Uncertain significance	Candidiasis, familial, 2;Familial Candidiasis, Recessive	RCV000644002;RCV000382977	MedGen;OMIM;Orphanet	C1859353;212050;ORPHA457088;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs373635926
Clinvar_Rec_5205	rs141310444	Uncertain significance	Candidiasis, familial, 2	RCV000644003	MedGen;OMIM;Orphanet	C1859353;212050;ORPHA457088	criteria provided, single submitter	tagSNP	rs141310444
Clinvar_Rec_5206	rs3088081	Benign	Familial Candidiasis, Recessive;not specified	RCV000408113;RCV000454561	MedGen	CN239217;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4077515
Clinvar_Rec_5207	rs3812561	Benign/Likely benign	Candidiasis, familial, 2;Familial Candidiasis, Recessive	RCV000559992;RCV000325258	MedGen;OMIM;Orphanet	C1859353;212050;ORPHA457088;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs59902911
Clinvar_Rec_5208	rs3812561	Likely benign	Familial Candidiasis, Recessive	RCV000298446	MedGen	CN239217	criteria provided, single submitter	LD derived	rs11145769
Clinvar_Rec_5209	rs576307325	Uncertain significance	Adams-Oliver syndrome 5	RCV000233763	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	LD derived	rs202235419
Clinvar_Rec_5210	rs559928872	Likely benign	Adams-Oliver syndrome 5;Cardiovascular phenotype	RCV000655288;RCV000621992	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs534623042
Clinvar_Rec_5211	rs1365732147	Uncertain significance	Adams-Oliver syndrome 5;Cardiovascular phenotype	RCV000535696;RCV000619232	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1365732147
Clinvar_Rec_5212	rs1564567924	Uncertain significance	Adams-Oliver syndrome 5	RCV000689599	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	tagSNP	rs1564567924
Clinvar_Rec_5213	rs1060502236	Uncertain significance	Adams-Oliver syndrome 5	RCV000472324	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	tagSNP	rs1060502236
Clinvar_Rec_5214	rs886063718	Uncertain significance	Congenital generalized lipodystrophy (disease)	RCV000306946	Human Phenotype Ontology;MedGen	HP;C0221032	criteria provided, single submitter	tagSNP	rs886063718
Clinvar_Rec_5215	rs567964604	Uncertain significance	Congenital generalized lipodystrophy (disease)	RCV000319061	Human Phenotype Ontology;MedGen	HP;C0221032	criteria provided, single submitter	tagSNP	rs567964604
Clinvar_Rec_5216	rs777619886	Uncertain significance	Congenital generalized lipodystrophy (disease)	RCV000375973	Human Phenotype Ontology;MedGen	HP;C0221032	criteria provided, single submitter	tagSNP	rs777619886
Clinvar_Rec_5217	rs886063721	Uncertain significance	Congenital generalized lipodystrophy (disease)	RCV000259829	Human Phenotype Ontology;MedGen	HP;C0221032	criteria provided, single submitter	tagSNP	rs886063721
Clinvar_Rec_5218	rs571693079	Uncertain significance	Adams-Oliver syndrome 5	RCV000477303	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	LD derived	rs371414501
Clinvar_Rec_5219	rs571693079	Likely benign	Adams-Oliver syndrome 5;Connective tissue disease	RCV000547192;RCV000680589	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs561404862
Clinvar_Rec_5220	rs554331280	Benign/Likely benign	Cardiovascular phenotype;not provided	RCV000243708;RCV000864589	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs531156367
Clinvar_Rec_5221	rs201558705	Benign/Likely benign	Connective tissue disease;not provided;not specified	RCV000680598;RCV000469297;RCV000605714	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs374320445
Clinvar_Rec_5222	rs114229673	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000717646;RCV000294927;RCV000956787	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs115889896
Clinvar_Rec_5223	rs114229673	Benign	History of neurodevelopmental disorder;not provided	RCV000717650;RCV000956788	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77684216
Clinvar_Rec_5224	rs114229673	Uncertain significance	Intellectual Disability, Recessive	RCV000310106	MedGen	CN239290	criteria provided, single submitter	LD derived	rs76740252
Clinvar_Rec_5225	rs114229673	Uncertain significance	Intellectual Disability, Recessive	RCV000346415	MedGen	CN239290	criteria provided, single submitter	LD derived	rs114484315
Clinvar_Rec_5226	rs114229673	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000717651;RCV000400032;RCV000956790	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs114484315
Clinvar_Rec_5227	rs114229673	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000717663;RCV000266306;RCV000956791	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs75234317
Clinvar_Rec_5228	rs968733	Benign	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided;not specified	RCV000715305;RCV000277681;RCV000827998;RCV000117582	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs968733
Clinvar_Rec_5229	rs886063728	Uncertain significance	Intellectual Disability, Recessive	RCV000284568	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs886063728
Clinvar_Rec_5230	rs112434939	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000716155;RCV000337759;RCV000907217	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs112434939
Clinvar_Rec_5231	rs777270726	Uncertain significance	Mental retardation, autosomal recessive 15	RCV000649529	MedGen;OMIM	C3280127;614202	criteria provided, single submitter	tagSNP	rs777270726
Clinvar_Rec_5232	rs141249927	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717053;RCV000554649;RCV000602220	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141249927
Clinvar_Rec_5233	rs141249927	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Mental retardation, autosomal recessive 15;not provided	RCV000717049;RCV000985090;RCV000117587	MedGen;OMIM	C2711754;MedGen;614202;MedGen	criteria provided, conflicting interpretations	LD derived	rs75442795
Clinvar_Rec_5234	rs141249927	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717045;RCV000232465;RCV000616760	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77812749
Clinvar_Rec_5235	rs11271514	Benign	Deafness, autosomal recessive 79;not provided;not specified	RCV000988308;RCV000947224;RCV000173227	MedGen;OMIM	C2750082;613307;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9411313
Clinvar_Rec_5236	rs373595474	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000716155;RCV000337759;RCV000907217	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs112434939
Clinvar_Rec_5237	rs542499782	Pathogenic	Autosomal recessive hypophosphatemic bone disease	RCV000001494	MedGen;OMIM;Orphanet;SNOMED CT	C1853271;241530;ORPHA157215;237891005	criteria provided, single submitter	LD derived	rs121918236
Clinvar_Rec_5238	rs535327187	Likely benign	Kleefstra syndrome 1	RCV000360653	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	LD derived	rs542383104
Clinvar_Rec_5239	rs529750103	Likely benign	History of neurodevelopmental disorder	RCV000719714	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs529750103
Clinvar_Rec_5240	rs202066668	Conflicting interpretations of pathogenicity	Kleefstra syndrome 1;not specified	RCV000367897;RCV000193456	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202066668
Clinvar_Rec_5241	rs757476606	Likely benign	Kleefstra syndrome 1	RCV000692965	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	tagSNP	rs757476606
Clinvar_Rec_5242	rs142271310	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716533;RCV000543474;RCV000082234	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142271310
Clinvar_Rec_5243	rs1554863573	Uncertain significance	Kleefstra syndrome 1	RCV000555771	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	tagSNP	rs1554863573
Clinvar_Rec_5244	rs758845539	Conflicting interpretations of pathogenicity	Kleefstra syndrome 1;not provided	RCV000259972;RCV000968949	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147;MedGen	criteria provided, conflicting interpretations	tagSNP	rs758845539
Clinvar_Rec_5245	rs573197356	Benign	Holoprosencephaly sequence;not provided	RCV000223908;RCV000970783	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001;MedGen	criteria provided, single submitter	tagSNP	rs573197356
Clinvar_Rec_5246	rs978572	Benign/Likely benign	Osteopetrosis;Paget disease of bone;not specified	RCV000312036;RCV000370833;RCV000249802	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT	HP;C0029454;ORPHA2781;MedGen;ORPHA280110;2089002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7238731
Clinvar_Rec_5247	rs978572	Benign/Likely benign	Osteopetrosis;Paget disease of bone;not specified	RCV000327121;RCV000276795;RCV000173310	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT	HP;C0029454;ORPHA2781;MedGen;ORPHA280110;2089002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1805033
Clinvar_Rec_5248	rs11540478	Benign/Likely benign	D-2-hydroxyglutaric aciduria 2;not provided;not specified	RCV000534348;RCV000676984;RCV000146092	MedGen;OMIM	C3150909;613657;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11540478
Clinvar_Rec_5249	rs538691167	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000543803;RCV001022081	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs557057587
Clinvar_Rec_5250	rs1555418242	Uncertain significance	Bloom syndrome;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000529582;RCV001030677;RCV001011003	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555418242
Clinvar_Rec_5251	rs991350762	Uncertain significance	Bloom syndrome	RCV000709354	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs991350762
Clinvar_Rec_5252	rs1555418261	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564482	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555418261
Clinvar_Rec_5253	rs769957028	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000628617;RCV001014393	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs769957028
Clinvar_Rec_5254	rs768843912	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000547942;RCV001014996	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs768843912
Clinvar_Rec_5255	rs768843912	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000628621;RCV000565575	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs768843912
Clinvar_Rec_5256	rs757984551	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000812053;RCV000572396	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs757984551
Clinvar_Rec_5257	rs745807085	Pathogenic/Likely pathogenic	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000411055;RCV001017760	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs745807085
Clinvar_Rec_5258	rs770825975	Uncertain significance	Bloom syndrome	RCV000628679	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs770825975
Clinvar_Rec_5259	rs1555418365	Uncertain significance	Bloom syndrome	RCV000628615	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1555418365
Clinvar_Rec_5260	rs1170049553	Likely pathogenic	Bloom syndrome	RCV000669465	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1170049553
Clinvar_Rec_5261	rs1060500633	Uncertain significance	Bloom syndrome	RCV000469358	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1060500633
Clinvar_Rec_5262	rs28903082	Uncertain significance	Bloom syndrome	RCV000709356	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, multiple submitters, no conflicts	tagSNP	rs28903082
Clinvar_Rec_5263	rs28903082	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573446;RCV000234095;RCV000123841	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28903082
Clinvar_Rec_5264	rs1057517229	Likely pathogenic	Bloom syndrome	RCV000411857	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1057517229
Clinvar_Rec_5265	rs770111029	Uncertain significance	Bloom syndrome	RCV000471562	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs770111029
Clinvar_Rec_5266	rs770111029	Uncertain significance	Bloom syndrome	RCV000229061	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs770111029
Clinvar_Rec_5267	rs730881428	Pathogenic	Bloom syndrome	RCV000544365	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs730881428
Clinvar_Rec_5268	rs1555419857	Uncertain significance	Bloom syndrome	RCV000628638	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1555419857
Clinvar_Rec_5269	rs1555419932	Uncertain significance	Bloom syndrome	RCV000674920	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1555419932
Clinvar_Rec_5270	rs758161226	Uncertain significance	Bloom syndrome	RCV000472965	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs758161226
Clinvar_Rec_5271	rs145029382	Uncertain significance	Bloom syndrome	RCV000477499	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs145029382
Clinvar_Rec_5272	rs1395403568	Uncertain significance	Bloom syndrome	RCV000688420	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1395403568
Clinvar_Rec_5273	rs146034155	Conflicting interpretations of pathogenicity	Bloom syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000229324;RCV000573786;RCV000858428;RCV000123852	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs56009845
Clinvar_Rec_5274	rs367543017	Uncertain significance	Bloom syndrome;not specified	RCV001069669;RCV000120229	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen	criteria provided, single submitter	tagSNP	rs367543017
Clinvar_Rec_5275	rs864309534	Pathogenic	Epileptic encephalopathy, childhood-onset	RCV000202625	MedGen;OMIM	C3809278;615369	no assertion criteria provided	tagSNP	rs864309534
Clinvar_Rec_5276	rs755510106	Conflicting interpretations of pathogenicity	Epileptic encephalopathy, childhood-onset;not specified	RCV000469397;RCV000607521	MedGen;OMIM	C3809278;615369;MedGen	criteria provided, conflicting interpretations	tagSNP	rs755510106
Clinvar_Rec_5277	rs373555806	Uncertain significance	Epileptic encephalopathy, childhood-onset;not provided	RCV000557924;RCV000494206	MedGen;OMIM	C3809278;615369;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373555806
Clinvar_Rec_5278	rs1359060187	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000720075;RCV000872266	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1359060187
Clinvar_Rec_5279	rs150268140	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716797;RCV000711184;RCV000245432	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150268140
Clinvar_Rec_5280	rs61756301	Benign	Epileptic encephalopathy, childhood-onset;History of neurodevelopmental disorder;not specified	RCV000228010;RCV000716515;RCV000420173	MedGen;OMIM	C3809278;615369;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61756301
Clinvar_Rec_5281	rs1567159959	Uncertain significance	Epileptic encephalopathy, childhood-onset	RCV000693150	MedGen;OMIM	C3809278;615369	criteria provided, single submitter	tagSNP	rs1567159959
Clinvar_Rec_5282	rs587777371	Pathogenic	Congenital heart defects, multiple types, 4;not provided	RCV000116199;RCV000494657	MedGen;OMIM	C4014310;615779;MedGen	criteria provided, single submitter	tagSNP	rs587777371
Clinvar_Rec_5283	rs745531890	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000392311	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs745531890
Clinvar_Rec_5284	rs558809166	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000384146	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs558809166
Clinvar_Rec_5285	rs375868122	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000407990	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs375868122
Clinvar_Rec_5286	rs567405313	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000306449	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs567405313
Clinvar_Rec_5287	rs143593034	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000322962	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs143593034
Clinvar_Rec_5288	rs886051601	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000385385	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs886051601
Clinvar_Rec_5289	rs2177031	Benign	Growth delay due to insulin-like growth factor I resistance	RCV000267853	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs2177031
Clinvar_Rec_5290	rs144178122	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000385309	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs144178122
Clinvar_Rec_5291	rs2573652	Benign	Weill-Marchesani syndrome 4	RCV000326224	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	tagSNP	rs2573652
Clinvar_Rec_5292	rs2573652	Benign	Weill-Marchesani syndrome 4	RCV000259358	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	LD derived	rs2573650
Clinvar_Rec_5293	rs146405261	Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719206;RCV000761923;RCV000503513	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146405261
Clinvar_Rec_5294	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715200	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs12592868
Clinvar_Rec_5295	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715255	MedGen	C2711754	criteria provided, single submitter	LD derived	rs8451
Clinvar_Rec_5296	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715288	MedGen	C2711754	criteria provided, single submitter	LD derived	rs12157
Clinvar_Rec_5297	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715257	MedGen	C2711754	criteria provided, single submitter	LD derived	rs6598356
Clinvar_Rec_5298	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715238	MedGen	C2711754	criteria provided, single submitter	LD derived	rs2411836
Clinvar_Rec_5299	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715233	MedGen	C2711754	criteria provided, single submitter	LD derived	rs8039437
Clinvar_Rec_5300	rs12592868	Benign	History of neurodevelopmental disorder	RCV000715208	MedGen	C2711754	criteria provided, single submitter	LD derived	rs11247226
Clinvar_Rec_5301	rs531879095	Uncertain significance	Meier-Gorlin syndrome	RCV000286808	MedGen;Orphanet	C1868684;ORPHA2554	criteria provided, single submitter	tagSNP	rs531879095
Clinvar_Rec_5302	rs1303617854	Uncertain significance	Glycogen storage disease IXb	RCV000779188	MedGen;OMIM;Orphanet	C0543514;261750;ORPHA79240	criteria provided, single submitter	tagSNP	rs1303617854
Clinvar_Rec_5303	rs555323561	Likely benign	Cylindromatosis, familial	RCV000360395	MedGen;OMIM;Orphanet	C1851526;132700;ORPHA211	criteria provided, single submitter	LD derived	rs141088048
Clinvar_Rec_5304	rs1361409611	Uncertain significance	Blau syndrome;Inflammatory bowel disease 1	RCV000685064;RCV000685064	MedGen;OMIM;Orphanet;OMIM	C1861303;186580;ORPHA90340;MedGen;266600	criteria provided, single submitter	tagSNP	rs1361409611
Clinvar_Rec_5305	rs4614723	Benign	Townes-Brocks syndrome 1;not specified	RCV000349793;RCV000242039	MedGen;OMIM	C4551481;107480;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4614723
Clinvar_Rec_5306	rs886052083	Uncertain significance	Townes-Brocks syndrome 1	RCV000347610	MedGen;OMIM	C4551481;107480	criteria provided, single submitter	tagSNP	rs886052083
Clinvar_Rec_5307	rs1085307143	Pathogenic	Townes-Brocks syndrome 1	RCV000489064	MedGen;OMIM	C4551481;107480	criteria provided, single submitter	tagSNP	rs1085307143
Clinvar_Rec_5308	rs886052107	Uncertain significance	Growth retardation, developmental delay, coarse facies, and early death	RCV000292139	MedGen;OMIM;Orphanet	C2752001;612938;ORPHA210144	criteria provided, single submitter	tagSNP	rs886052107
Clinvar_Rec_5309	rs117876365	Benign/Likely benign	Bardet-Biedl syndrome;not provided	RCV000310340;RCV000858058	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs150384293
Clinvar_Rec_5310	rs117876365	Likely benign	Bardet-Biedl syndrome	RCV000331692	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	LD derived	rs117744577
Clinvar_Rec_5311	rs223870	Benign	Coenzyme Q10 deficiency, primary	RCV000359269	MedGen;Orphanet	CN229570;ORPHA35656	criteria provided, single submitter	tagSNP	rs223870
Clinvar_Rec_5312	rs587776625	Pathogenic	Polymicrogyria, bilateral frontoparietal;not provided	RCV000006184;RCV000351326	MedGen;OMIM;Orphanet	C1847352;606854;ORPHA101070;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776625
Clinvar_Rec_5313	rs142684762	Likely pathogenic	Inborn genetic diseases	RCV000623764	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs142684762
Clinvar_Rec_5314	rs144307949	Likely benign	Retinitis Pigmentosa, Recessive	RCV000263579	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs144307949
Clinvar_Rec_5315	rs387906989	Pathogenic	Epilepsy, progressive myoclonic 5;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	RCV000023710;RCV000679893	MedGen;Orphanet;OMIM;Orphanet	CN226157;ORPHA402082;MedGen;607459;ORPHA70595	criteria provided, single submitter	tagSNP	rs387906989
Clinvar_Rec_5316	rs751445312	Uncertain significance	Epilepsy, progressive myoclonic 5	RCV000699104	MedGen;Orphanet	CN226157;ORPHA402082	criteria provided, single submitter	tagSNP	rs751445312
Clinvar_Rec_5317	rs876657699	Pathogenic	Rare genetic deafness	RCV000218716	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs876657699
Clinvar_Rec_5318	rs137904015	Conflicting interpretations of pathogenicity	Tietz syndrome;Waardenburg syndrome;not provided;not specified	RCV000394794;RCV000299354;RCV000762121;RCV000215990	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0391816;103500;ORPHA42665;MedGen;ORPHA3440;47434006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137904015
Clinvar_Rec_5319	rs112773801	Benign	Intellectual Disability with Language Impairment and Autistic Features	RCV000332049	MedGen	CN239203	criteria provided, single submitter	tagSNP	rs112773801
Clinvar_Rec_5320	rs45513597	Benign/Likely benign	Early-onset autosomal dominant Alzheimer disease;not provided	RCV000343472;RCV000627814	MedGen;Orphanet	CN043596;ORPHA1020;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45513597
Clinvar_Rec_5321	rs116650065	Benign/Likely benign	Early-onset autosomal dominant Alzheimer disease;not provided	RCV000377127;RCV000873866	MedGen;Orphanet	CN043596;ORPHA1020;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs116650065
Clinvar_Rec_5322	rs63750921	Pathogenic	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT;not provided	RCV000019731;RCV000084565	na;MedGen	CN517202	no assertion criteria provided	tagSNP	rs63750921
Clinvar_Rec_5323	rs886056996	Uncertain significance	Early-onset autosomal dominant Alzheimer disease	RCV000372116	MedGen;Orphanet	CN043596;ORPHA1020	criteria provided, single submitter	tagSNP	rs886056996
Clinvar_Rec_5324	rs745974049	Uncertain significance	Early-onset autosomal dominant Alzheimer disease	RCV000352145	MedGen;Orphanet	CN043596;ORPHA1020	criteria provided, single submitter	tagSNP	rs745974049
Clinvar_Rec_5325	rs886056997	Uncertain significance	Early-onset autosomal dominant Alzheimer disease	RCV000407575	MedGen;Orphanet	CN043596;ORPHA1020	criteria provided, single submitter	tagSNP	rs886056997
Clinvar_Rec_5326	rs142752986	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000296464	MedGen	CN239175	criteria provided, single submitter	tagSNP	rs142752986
Clinvar_Rec_5327	rs121912431	Pathogenic	Amyotrophic lateral sclerosis type 1	RCV000664220	MedGen;OMIM	C1862939;105400	no assertion criteria provided	tagSNP	rs121912431
Clinvar_Rec_5328	rs121912431	Pathogenic	Amyotrophic lateral sclerosis type 1;Motor neuron disease	RCV000015874;RCV000492487	MedGen;OMIM;Orphanet;SNOMED CT	C1862939;105400;MedGen;ORPHA98503;37340000	criteria provided, single submitter	tagSNP	rs121912431
Clinvar_Rec_5329	rs121912432	Likely pathogenic	Amyotrophic lateral sclerosis type 1;not provided	RCV000015875;RCV000997816	MedGen;OMIM	C1862939;105400;MedGen	criteria provided, single submitter	tagSNP	rs121912432
Clinvar_Rec_5330	rs80265967	Conflicting interpretations of pathogenicity	Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 1, autosomal recessive;Amyotrophic lateral sclerosis type 1;not provided	RCV000290605;RCV000015889;RCV000015888;RCV000713399	MedGen;OMIM	CN239175;MedGen;105400;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80265967
Clinvar_Rec_5331	rs77503870	Likely benign	Glucocorticoid Deficiency	RCV000301463	MedGen	C1955741	criteria provided, single submitter	LD derived	rs17855142
Clinvar_Rec_5332	rs77503870	Likely benign	Glucocorticoid Deficiency	RCV000327346	MedGen	C1955741	criteria provided, single submitter	LD derived	rs17855143
Clinvar_Rec_5333	rs769954720	Uncertain significance	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset	RCV000694869;RCV000694869	MedGen;OMIM;OMIM	C4479313;617389;MedGen;615530	criteria provided, single submitter	tagSNP	rs769954720
Clinvar_Rec_5334	rs1569014970	Uncertain significance	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset	RCV000692154;RCV000692154	MedGen;OMIM;OMIM	C4479313;617389;MedGen;615530	criteria provided, single submitter	tagSNP	rs1569014970
Clinvar_Rec_5335	rs886057003	Uncertain significance	Inflammatory bowel disease	RCV000314813	MedGen;Orphanet;SNOMED CT	C0021390;ORPHA104012;24526004	criteria provided, single submitter	tagSNP	rs886057003
Clinvar_Rec_5336	rs3171425	Benign	Inflammatory bowel disease	RCV000270142	MedGen;Orphanet;SNOMED CT	C0021390;ORPHA104012;24526004	criteria provided, single submitter	tagSNP	rs3171425
Clinvar_Rec_5337	rs1569036981	Uncertain significance	Familial platelet disorder with associated myeloid malignancy	RCV000689430	MedGen;OMIM;Orphanet	C1832388;601399;ORPHA71290	criteria provided, single submitter	tagSNP	rs1569036981
Clinvar_Rec_5338	rs1393866282	Pathogenic/Likely pathogenic	Holocarboxylase synthetase deficiency	RCV000587858	MedGen;OMIM;Orphanet	C0268581;253270;ORPHA79242	criteria provided, multiple submitters, no conflicts	tagSNP	rs1393866282
Clinvar_Rec_5339	rs1284747916	Likely pathogenic	Holocarboxylase synthetase deficiency	RCV000672511	MedGen;OMIM;Orphanet	C0268581;253270;ORPHA79242	criteria provided, single submitter	tagSNP	rs1284747916
Clinvar_Rec_5340	rs887440216	Uncertain significance	Mental retardation, autosomal dominant 7	RCV000543371	MedGen;OMIM;Orphanet	C3279839;614104;ORPHA464306	criteria provided, single submitter	tagSNP	rs887440216
Clinvar_Rec_5341	rs387906750	Pathogenic	46,XY sex reversal 8	RCV000022967	Gene;MedGen;OMIM;Orphanet	6994;C1839840;614279;ORPHA443087	no assertion criteria provided	tagSNP	rs387906750
Clinvar_Rec_5342	rs538679036	Uncertain significance	Interleukin 2 receptor, alpha, deficiency of	RCV000308904	MedGen;OMIM;Orphanet	C1853392;606367;ORPHA169100	criteria provided, single submitter	LD derived	rs147669116
Clinvar_Rec_5343	rs138679257	Likely benign	Hypoparathyroidism-deafness-renal disease syndrome;not provided	RCV000395824;RCV000876221	MedGen;OMIM;Orphanet	C1840333;146255;ORPHA2237;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138679257
Clinvar_Rec_5344	rs886046818	Uncertain significance	Amyotrophic Lateral Sclerosis, Recessive;Primary open angle glaucoma	RCV000399924;RCV000301345	MedGen;MedGen;OMIM;SNOMED CT	CN239196;Human Phenotype Ontology;C0339573;137760;77075001	criteria provided, single submitter	tagSNP	rs886046818
Clinvar_Rec_5345	rs113811959	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Recessive;Primary open angle glaucoma;not provided;not specified	RCV000365950;RCV000311095;RCV000635241;RCV000249241	MedGen;MedGen;OMIM;SNOMED CT	CN239196;Human Phenotype Ontology;C0339573;137760;77075001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113811959
Clinvar_Rec_5346	rs191042274	Likely benign	Histiocytic medullary reticulosis	RCV000314863	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006	criteria provided, single submitter	tagSNP	rs191042274
Clinvar_Rec_5347	rs550717857	Uncertain significance	Histiocytic medullary reticulosis	RCV000275083	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006	criteria provided, single submitter	tagSNP	rs550717857
Clinvar_Rec_5348	rs550717857	Uncertain significance	Histiocytic medullary reticulosis	RCV000288911	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006	criteria provided, single submitter	LD derived	rs41300694
Clinvar_Rec_5349	rs550717857	Uncertain significance	Histiocytic medullary reticulosis	RCV000269154	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006	criteria provided, single submitter	LD derived	rs566371862
Clinvar_Rec_5350	rs550717857	Uncertain significance	Histiocytic medullary reticulosis	RCV000279505	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006	criteria provided, single submitter	LD derived	rs557496672
Clinvar_Rec_5351	rs1033877372	Uncertain significance	Severe combined immunodeficiency due to DCLRE1C deficiency	RCV000687745	MedGen;OMIM;Orphanet	C1865370;602450;ORPHA275	criteria provided, single submitter	tagSNP	rs1033877372
Clinvar_Rec_5352	rs1554337956	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000654008	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1554337956
Clinvar_Rec_5353	rs773316961	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653945	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs773316961
Clinvar_Rec_5354	rs1554340999	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653942	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1554340999
Clinvar_Rec_5355	rs768342562	Pathogenic	Trichothiodystrophy 1, photosensitive	RCV000202381	MedGen;OMIM;Orphanet	C1866504;601675;ORPHA670	no assertion criteria provided	tagSNP	rs768342562
Clinvar_Rec_5356	rs587776532	Pathogenic	Trichothiodystrophy, nonphotosensitive 1	RCV000001921	MedGen;OMIM	C1961117;234050	no assertion criteria provided	tagSNP	rs587776532
Clinvar_Rec_5357	rs886062334	Uncertain significance	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly	RCV000309270;RCV000344020;RCV000408232	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006	criteria provided, single submitter	tagSNP	rs886062334
Clinvar_Rec_5358	rs886062335	Uncertain significance	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly	RCV000384316;RCV000326195;RCV000289868	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006	criteria provided, single submitter	tagSNP	rs886062335
Clinvar_Rec_5359	rs116840755	Pathogenic	Pallister-Hall syndrome	RCV000031870	MedGen;OMIM;Orphanet;SNOMED CT	C0265220;146510;ORPHA672;56677004	no assertion criteria provided	tagSNP	rs116840755
Clinvar_Rec_5360	rs886049089	Uncertain significance	Mitochondrial myopathy and sideroblastic anemia	RCV000271792	MedGen;Orphanet	C1838103;ORPHA2598	criteria provided, single submitter	tagSNP	rs886049089
Clinvar_Rec_5361	rs188546423	Uncertain significance	Mitochondrial myopathy and sideroblastic anemia	RCV000353284	MedGen;Orphanet	C1838103;ORPHA2598	criteria provided, single submitter	tagSNP	rs188546423
Clinvar_Rec_5362	rs556947936	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000541360	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	LD derived	rs556821288
Clinvar_Rec_5363	rs1060500804	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000469877	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1060500804
Clinvar_Rec_5364	rs1326812680	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000557533	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1326812680
Clinvar_Rec_5365	rs1555221197	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650795	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555221197
Clinvar_Rec_5366	rs753910068	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000459473	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs753910068
Clinvar_Rec_5367	rs762153693	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573652	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs762153693
Clinvar_Rec_5368	rs752873913	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000543778	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs752873913
Clinvar_Rec_5369	rs878854840	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome	RCV000229959;RCV000573934	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854840
Clinvar_Rec_5370	rs141424313	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000467897	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs141424313
Clinvar_Rec_5371	rs567653327	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000561051;RCV000465643;RCV000236504	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs145427269
Clinvar_Rec_5372	rs567653327	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000572026;RCV000228159;RCV000433768	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs368555884
Clinvar_Rec_5373	rs1114167357	Likely pathogenic	Tetralogy of Fallot	RCV000491976	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0039685;187500;ORPHA3303;86299006	no assertion criteria provided	tagSNP	rs1114167357
Clinvar_Rec_5374	rs1060501866	Uncertain significance	Hypertrophic cardiomyopathy	RCV000464388	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1060501866
Clinvar_Rec_5375	rs1060501866	Uncertain significance	Hypertrophic cardiomyopathy	RCV000530381	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1060501866
Clinvar_Rec_5376	rs199476304	Uncertain significance	Hypertrophic cardiomyopathy;not provided	RCV000456653;RCV000024571	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, single submitter	tagSNP	rs199476304
Clinvar_Rec_5377	rs1114167355	Likely pathogenic	Pulmonary atresia with intact ventricular septum	RCV000491526	MedGen;OMIM;Orphanet;SNOMED CT	C0344975;265150;ORPHA1208;253590009	no assertion criteria provided	tagSNP	rs1114167355
Clinvar_Rec_5378	rs886039024	Uncertain significance	Cardiovascular phenotype	RCV000243279	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039024
Clinvar_Rec_5379	rs1555410410	Likely benign	Hypertrophic cardiomyopathy	RCV000629106	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1555410410
Clinvar_Rec_5380	rs113626158	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000360020	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs113626158
Clinvar_Rec_5381	rs763342854	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000267538	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs763342854
Clinvar_Rec_5382	rs398122834	Pathogenic	Osteogenesis imperfecta type 9	RCV000034321	MedGen;OMIM	C1850169;259440	no assertion criteria provided	tagSNP	rs398122834
Clinvar_Rec_5383	rs527689470	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000383462	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs527689470
Clinvar_Rec_5384	rs570907289	Likely pathogenic	Spinal muscular atrophy with congenital bone fractures 1;not provided	RCV000989343;RCV000498698	MedGen;OMIM	C4225177;616866;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs147303485
Clinvar_Rec_5385	rs886051330	Uncertain significance	Spastic Paraplegia, Recessive	RCV000275774	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs886051330
Clinvar_Rec_5386	rs7179665	Benign/Likely benign	Congenital Stationary Night Blindness, Recessive;not specified	RCV000379969;RCV000246072	MedGen	CN239273;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35571449
Clinvar_Rec_5387	rs7179665	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000335250	MedGen	CN239273	criteria provided, single submitter	LD derived	rs62014379
Clinvar_Rec_5388	rs7179665	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000276006	MedGen	CN239273	criteria provided, single submitter	LD derived	rs62014380
Clinvar_Rec_5389	rs886051349	Uncertain significance	Congenital stationary night blindness, type 1D	RCV000263278	MedGen;OMIM	C3151193;613830	criteria provided, single submitter	tagSNP	rs886051349
Clinvar_Rec_5390	rs34363823	Benign/Likely benign	Congenital Stationary Night Blindness, Recessive;not specified	RCV000323036;RCV000175787	MedGen	CN239273;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34363823
Clinvar_Rec_5391	rs1409145798	Uncertain significance	Loeys-Dietz syndrome 3	RCV000525242	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs1409145798
Clinvar_Rec_5392	rs1567091382	Uncertain significance	Loeys-Dietz syndrome 3	RCV000701683	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs1567091382
Clinvar_Rec_5393	rs1397296874	Uncertain significance	Loeys-Dietz syndrome 3	RCV000648774	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs1397296874
Clinvar_Rec_5394	rs767379771	Likely benign	Loeys-Dietz syndrome 3	RCV000648782	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs767379771
Clinvar_Rec_5395	rs1567091749	Uncertain significance	Loeys-Dietz syndrome 3	RCV000687072	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs1567091749
Clinvar_Rec_5396	rs1470004	Benign	Cardiovascular phenotype;Loeys-Dietz syndrome;Loeys-Dietz syndrome 3;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000617020;RCV000295973;RCV000989348;RCV000247318;RCV000128169	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	CN230736;MedGen;ORPHA60030;446263001;MedGen;613795;ORPHA284984;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1065080
Clinvar_Rec_5397	rs1060500771	Likely pathogenic	Thoracic aortic aneurysm and aortic dissection	RCV000469786	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1060500771
Clinvar_Rec_5398	rs371614939	Likely benign	Thoracic aortic aneurysm and aortic dissection;not specified	RCV000771994;RCV000423938	MedGen;Orphanet	C4707243;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371614939
Clinvar_Rec_5399	rs1567005489	Uncertain significance	Loeys-Dietz syndrome 3	RCV000767867	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	tagSNP	rs1567005489
Clinvar_Rec_5400	rs863223748	Uncertain significance	Thoracic aortic aneurysm and aortic dissection;not provided	RCV000535404;RCV000200368	MedGen;Orphanet	C4707243;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863223748
Clinvar_Rec_5401	rs550707472	Likely benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000320926;RCV000263523	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs550707472
Clinvar_Rec_5402	rs564556206	Likely benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000267021;RCV000377918	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs564556206
Clinvar_Rec_5403	rs571689385	Likely benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000384686;RCV000292705	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs571689385
Clinvar_Rec_5404	rs571689385	Likely benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000358420;RCV000301316	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs191114875
Clinvar_Rec_5405	rs533635017	Uncertain significance	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000290600;RCV000382143	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs533635017
Clinvar_Rec_5406	rs886051408	Uncertain significance	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000384206;RCV000327179	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886051408
Clinvar_Rec_5407	rs12595334	Benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000285382;RCV000400652	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs12595334
Clinvar_Rec_5408	rs886051425	Uncertain significance	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000386894;RCV000292679	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886051425
Clinvar_Rec_5409	rs886051426	Uncertain significance	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000406931;RCV000347633	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886051426
Clinvar_Rec_5410	rs886051429	Benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000359077;RCV000264349	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886051429
Clinvar_Rec_5411	rs151295143	Benign/Likely benign	Seizures;not provided;not specified	RCV000717103;RCV000675961;RCV000124343	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs151295143
Clinvar_Rec_5412	rs143781303	Conflicting interpretations of pathogenicity	Neuronal ceroid lipofuscinosis;not provided	RCV001037728;RCV000187106	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143781303
Clinvar_Rec_5413	rs1555472602	Uncertain significance	Tay-Sachs disease	RCV000665394	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	criteria provided, single submitter	tagSNP	rs1555472602
Clinvar_Rec_5414	rs886051471	Uncertain significance	Syndromic Microphthalmia, Recessive	RCV000368439	MedGen	CN239456	criteria provided, single submitter	tagSNP	rs886051471
Clinvar_Rec_5415	rs139190144	Benign/Likely benign	Congenital disorder of glycosylation;MPI-CDG;not specified	RCV000329835;RCV000525121;RCV000153510	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;602579;ORPHA79319;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139190144
Clinvar_Rec_5416	rs587783802	Pathogenic	Severe X-linked myotubular myopathy	RCV000146426	MedGen;OMIM;Orphanet;SNOMED CT	C0410203;310400;ORPHA596;46804001	criteria provided, single submitter	tagSNP	rs587783802
Clinvar_Rec_5417	rs1060502808	Pathogenic	Creatine transporter deficiency	RCV000472365	MedGen;OMIM;Orphanet	C1845862;300352;ORPHA52503	criteria provided, single submitter	tagSNP	rs1060502808
Clinvar_Rec_5418	rs1569540703	Uncertain significance	Adrenoleukodystrophy	RCV000690849	MedGen;OMIM;Orphanet;SNOMED CT	C0162309;300100;ORPHA43;65389002	criteria provided, single submitter	tagSNP	rs1569540703
Clinvar_Rec_5419	rs76637913	Benign/Likely benign	Adrenoleukodystrophy;History of neurodevelopmental disorder;not provided;not specified	RCV000259599;RCV000715827;RCV000675198;RCV000152722	MedGen;OMIM;Orphanet;SNOMED CT	C0162309;300100;ORPHA43;65389002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76637913
Clinvar_Rec_5420	rs782327280	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000718313;RCV000633498	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782327280
Clinvar_Rec_5421	rs146350208	Likely benign	Nephrogenic diabetes insipidus;not provided	RCV000396689;RCV000895951	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146350208
Clinvar_Rec_5422	rs782022257	Likely benign	Nephrogenic diabetes insipidus	RCV000396692	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007	criteria provided, single submitter	tagSNP	rs782022257
Clinvar_Rec_5423	rs1557107528	Pathogenic	N-terminal acetyltransferase deficiency	RCV000623587	MedGen;OMIM;Orphanet	C3275447;300855;ORPHA276432	no assertion criteria provided	tagSNP	rs1557107528
Clinvar_Rec_5424	rs267608352	Uncertain significance	Autism, susceptibility to, X-linked 3	RCV000132779	MedGen;OMIM	C1845336;300496	no assertion criteria provided	tagSNP	rs267608352
Clinvar_Rec_5425	rs267608341	Likely benign	Rett syndrome;not specified	RCV000990996;RCV000168710	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	criteria provided, single submitter	tagSNP	rs267608341
Clinvar_Rec_5426	rs267608642	Uncertain significance	Rett syndrome	RCV000133020	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608642
Clinvar_Rec_5427	rs267608640	Pathogenic	Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly	RCV000168709;RCV001042819	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0035372;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370	criteria provided, single submitter	tagSNP	rs267608640
Clinvar_Rec_5428	rs1557135300	Pathogenic	Rett syndrome	RCV000170115	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs1557135300
Clinvar_Rec_5429	rs782741920	Likely benign	History of neurodevelopmental disorder;not specified	RCV000715049;RCV000612925	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782741920
Clinvar_Rec_5430	rs1557135426	Pathogenic	Rett syndrome	RCV000170114	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs1557135426
Clinvar_Rec_5431	rs1557135907	Pathogenic	Rett syndrome	RCV000170228	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs1557135907
Clinvar_Rec_5432	rs1557136013	Pathogenic	Rett syndrome	RCV000170227	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs1557136013
Clinvar_Rec_5433	rs786204313	Uncertain significance	Autism, susceptibility to, X-linked 3;Mental retardation, X-linked, syndromic 13;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;not specified	RCV000766082;RCV000766082;RCV000766082;RCV000766082;RCV000766082;RCV000168699	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C1845336;300496;MedGen;300055;ORPHA3077;MedGen;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370;MedGen;300260;ORPHA1762;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204313
Clinvar_Rec_5434	rs61748423	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715091;RCV000712287;RCV000081216	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61748423
Clinvar_Rec_5435	rs1326849768	Uncertain significance	Inborn genetic diseases	RCV000623456	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1326849768
Clinvar_Rec_5436	rs61751360	Uncertain significance	Rett syndrome	RCV000133263	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61751360
Clinvar_Rec_5437	rs267608519	Pathogenic	Rett syndrome	RCV000133213	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608519
Clinvar_Rec_5438	rs61749738	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715147;RCV000535349;RCV000146356	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61749738
Clinvar_Rec_5439	rs267608509	Uncertain significance	Rett syndrome	RCV000133185	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608509
Clinvar_Rec_5440	rs267608502	Conflicting interpretations of pathogenicity	Severe neonatal-onset encephalopathy with microcephaly;not specified	RCV000691182;RCV000610375	MedGen;OMIM;Orphanet	C1968556;300673;ORPHA209370;MedGen	criteria provided, conflicting interpretations	tagSNP	rs267608502
Clinvar_Rec_5441	rs267608502	Uncertain significance	Schizophrenia	RCV000133170	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0036341;181500;58214004	no assertion criteria provided	tagSNP	rs267608502
Clinvar_Rec_5442	rs61749717	Pathogenic	Rett syndrome	RCV000133169	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61749717
Clinvar_Rec_5443	rs61748426	Uncertain significance	Mental retardation, X-linked, syndromic 13	RCV000133146	MedGen;OMIM;Orphanet	C1968550;300055;ORPHA3077	no assertion criteria provided	tagSNP	rs61748426
Clinvar_Rec_5444	rs267608486	Pathogenic	Rett syndrome;not provided	RCV000133133;RCV000255199	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	criteria provided, single submitter	tagSNP	rs267608486
Clinvar_Rec_5445	rs61748415	Pathogenic	Rett syndrome	RCV000133134	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61748415
Clinvar_Rec_5446	rs61748414	Uncertain significance	Autism, susceptibility to, X-linked 3	RCV000133132	MedGen;OMIM	C1845336;300496	no assertion criteria provided	tagSNP	rs61748414
Clinvar_Rec_5447	rs61748408	Likely pathogenic	Rett syndrome	RCV000445574	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	criteria provided, single submitter	tagSNP	rs61748408
Clinvar_Rec_5448	rs61748408	Pathogenic	Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided	RCV000169946;RCV000815972;RCV000081204	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0035372;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61748408
Clinvar_Rec_5449	rs61748407	Uncertain significance	Rett syndrome	RCV000133120	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61748407
Clinvar_Rec_5450	rs61748407	Uncertain significance	Rett syndrome	RCV000133121	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61748407
Clinvar_Rec_5451	rs179363900	Conflicting interpretations of pathogenicity	Autism, susceptibility to, X-linked 3;Mental retardation, X-linked, syndromic 13;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome;Rett syndrome, zappella variant;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;not provided	RCV000763200;RCV000133115;RCV000763200;RCV000763200;RCV000991003;RCV000012618;RCV000763200;RCV000763200;RCV000492792	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C1845336;300496;MedGen;300055;ORPHA3077;MedGen;300055;ORPHA3077;MedGen;312750;ORPHA778;68618008;MedGen;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370;MedGen;300260;ORPHA1762;MedGen	criteria provided, conflicting interpretations	tagSNP	rs179363900
Clinvar_Rec_5452	rs61748403	Conflicting interpretations of pathogenicity	Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly	RCV000133114;RCV000801156	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0035372;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370	criteria provided, conflicting interpretations	tagSNP	rs61748403
Clinvar_Rec_5453	rs1557137042	Likely pathogenic	Rett syndrome;not provided	RCV000991004;RCV000512893	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557137042
Clinvar_Rec_5454	rs267608464	Pathogenic	Rett syndrome;not provided	RCV000170198;RCV000144112	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	no assertion criteria provided	tagSNP	rs267608464
Clinvar_Rec_5455	rs267608464	Pathogenic	Rett syndrome;not provided	RCV000170199;RCV000144113	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	no assertion criteria provided	tagSNP	rs267608464
Clinvar_Rec_5456	rs267608464	Pathogenic	Rett syndrome;not provided	RCV000170200;RCV000144114	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	no assertion criteria provided	tagSNP	rs267608464
Clinvar_Rec_5457	rs267608467	Uncertain significance	Rett syndrome;not provided	RCV000170272;RCV000144109	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008;MedGen	no assertion criteria provided	tagSNP	rs267608467
Clinvar_Rec_5458	rs61754436	Pathogenic	Rett syndrome	RCV000133028	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs61754436
Clinvar_Rec_5459	rs782168400	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000719897;RCV000977680	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782168400
Clinvar_Rec_5460	rs886039148	Likely benign	Cardiovascular phenotype	RCV000251076	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039148
Clinvar_Rec_5461	rs782166267	Likely benign	Cardiovascular phenotype	RCV000245941	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs782166267
Clinvar_Rec_5462	rs782376124	Benign/Likely benign	Cardiovascular phenotype;not specified	RCV000619586;RCV000613456	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782376124
Clinvar_Rec_5463	rs1569551502	Pathogenic	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000698081;RCV000698081;RCV000698081;RCV000698081	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1569551502
Clinvar_Rec_5464	rs2070827	Benign	Cardiovascular phenotype;History of neurodevelopmental disorder;not specified	RCV000622060;RCV000715549;RCV000079703	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2070825
Clinvar_Rec_5465	rs80338837	Pathogenic	Melnick-Needles syndrome	RCV000020424	MedGen;OMIM;Orphanet;SNOMED CT	C0025237;309350;ORPHA2484;13449007	no assertion criteria provided	tagSNP	rs80338837
Clinvar_Rec_5466	rs782361719	Uncertain significance	Cardiovascular phenotype;not specified	RCV000617508;RCV001002453	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782361719
Clinvar_Rec_5467	rs190437842	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000558872;RCV000558872;RCV000558872;RCV000558872	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs190437842
Clinvar_Rec_5468	rs1569551783	Pathogenic	FLNA related lung disease	RCV000761292	-	-	criteria provided, single submitter	tagSNP	rs1569551783
Clinvar_Rec_5469	rs1557178734	Likely benign	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1;not specified	RCV000640800;RCV000640800;RCV000640800;RCV000640800;RCV000614797	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557178734
Clinvar_Rec_5470	rs781879374	Conflicting interpretations of pathogenicity	Connective tissue disease;not provided	RCV000680543;RCV000199704	MedGen	C0009782;MedGen	criteria provided, conflicting interpretations	tagSNP	rs781879374
Clinvar_Rec_5471	rs782357419	Benign	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640788;RCV000640788;RCV000640788;RCV000640788	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs782357419
Clinvar_Rec_5472	rs137853318	Pathogenic	Oto-palato-digital syndrome, type II	RCV000012540	MedGen;OMIM;Orphanet;SNOMED CT	C1844696;304120;ORPHA90652;42432003	no assertion criteria provided	tagSNP	rs137853318
Clinvar_Rec_5473	rs137853314	Pathogenic	Oto-palato-digital syndrome, type I	RCV000012532	MedGen;OMIM;Orphanet;SNOMED CT	C0265251;311300;ORPHA90650;54036001	no assertion criteria provided	tagSNP	rs137853314
Clinvar_Rec_5474	rs1557194525	Likely pathogenic	3-Methylglutaconic aciduria type 2	RCV000503128	MedGen;OMIM;Orphanet;SNOMED CT	C0574083;302060;ORPHA111;297231002	no assertion criteria provided	tagSNP	rs1557194525
Clinvar_Rec_5475	rs137852346	Pathogenic, other	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD AVEIRO	RCV000011156;RCV000011155	MedGen;OMIM;Orphanet	C2720289;300908;ORPHA466026;na	no assertion criteria provided	tagSNP	rs137852346
Clinvar_Rec_5476	rs5030872	Pathogenic	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD MALAGA;G6PD SANTAMARIA;not provided	RCV000991016;RCV000030892;RCV000011109;RCV000507037	MedGen;OMIM;Orphanet	C2720289;300908;ORPHA466026;na;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5030872
Clinvar_Rec_5477	rs782491403	Uncertain significance	Dyskeratosis congenita	RCV000703624	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs782491403
Clinvar_Rec_5478	rs191271657	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1;not provided	RCV000525068;RCV000525068;RCV000525068;RCV000525068;RCV000197706	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200836471
Clinvar_Rec_5479	rs387906441	Pathogenic	Hereditary factor VIII deficiency disease	RCV000010920	MedGen;OMIM;Orphanet;SNOMED CT	C0019069;306700;ORPHA98878;28293008	no assertion criteria provided	tagSNP	rs387906441
Clinvar_Rec_5480	rs137852378	Pathogenic	Hereditary factor VIII deficiency disease	RCV000010867	MedGen;OMIM;Orphanet;SNOMED CT	C0019069;306700;ORPHA98878;28293008	no assertion criteria provided	tagSNP	rs137852378
Clinvar_Rec_5481	rs587777874	Pathogenic	Early-onset parkinsonism-intellectual disability syndrome;not provided	RCV000150034;RCV000144685	MedGen;OMIM;Orphanet	C0796195;311510;ORPHA2379;MedGen	criteria provided, single submitter	tagSNP	rs587777874
Clinvar_Rec_5482	rs1557332788	Uncertain significance	Autism, susceptibility to, X-linked 6;not provided	RCV000844987;RCV000523359	MedGen;OMIM	C3550875;300872;MedGen	criteria provided, single submitter	tagSNP	rs1557332788
Clinvar_Rec_5483	rs757511770	Likely pathogenic	Mental retardation, autosomal recessive 47;not provided	RCV000678303;RCV000493557	MedGen;OMIM	C4015444;616193;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757511770
Clinvar_Rec_5484	rs886041202	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary leiomyomatosis and renal cell cancer;not provided	RCV000494476;RCV000445599;RCV000354790	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C1708350;150800;ORPHA523;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041202
Clinvar_Rec_5485	rs369802820	Uncertain significance	Fumarase deficiency;Hereditary cancer-predisposing syndrome	RCV000635283;RCV001011509	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs369802820
Clinvar_Rec_5486	rs369802820	Conflicting interpretations of pathogenicity	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Hereditary leiomyomatosis and renal cell cancer;Multiple Cutaneous and Uterine Leiomyomas;not provided	RCV000332300;RCV001011508;RCV000381370;RCV000296074;RCV000034487	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C1708350;150800;ORPHA523;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369802820
Clinvar_Rec_5487	rs1558395525	Uncertain significance	Fumarase deficiency	RCV000693306	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs1558395525
Clinvar_Rec_5488	rs201388169	Uncertain significance	Fumarase deficiency	RCV000686337	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs201388169
Clinvar_Rec_5489	rs1558396381	Uncertain significance	Fumarase deficiency	RCV000705052	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs1558396381
Clinvar_Rec_5490	rs886039366	Uncertain significance	Fumarase deficiency;not provided	RCV000533307;RCV000255487	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039366
Clinvar_Rec_5491	rs760360724	Uncertain significance	Fumarase deficiency	RCV000698203	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs760360724
Clinvar_Rec_5492	rs1553341008	Likely benign	Fumarase deficiency	RCV000635330	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs1553341008
Clinvar_Rec_5493	rs121913119	Pathogenic	Fumarase deficiency	RCV000017618	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	no assertion criteria provided	tagSNP	rs121913119
Clinvar_Rec_5494	rs1060500896	Pathogenic	Fumarase deficiency	RCV000459166	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs1060500896
Clinvar_Rec_5495	rs1060500896	Pathogenic	Fumarase deficiency;Hereditary cancer-predisposing syndrome	RCV000694333;RCV000494465	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060500896
Clinvar_Rec_5496	rs372505976	Uncertain significance	Fumarase deficiency	RCV000537762	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs372505976
Clinvar_Rec_5497	rs372505976	Pathogenic/Likely pathogenic	Fumarase deficiency;Hereditary cancer-predisposing syndrome;not provided	RCV000548793;RCV000163828;RCV000195694	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372505976
Clinvar_Rec_5498	rs1060499633	Pathogenic	Hereditary leiomyomatosis and renal cell cancer;not provided	RCV000445601;RCV000657166	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1708350;150800;ORPHA523;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060499633
Clinvar_Rec_5499	rs863223983	Pathogenic	Fumarase deficiency	RCV000635287	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs863223983
Clinvar_Rec_5500	rs121913121	Pathogenic/Likely pathogenic	Fumarase deficiency;Hereditary cancer-predisposing syndrome;Hereditary leiomyomatosis and renal cell cancer;not provided	RCV000813168;RCV000493777;RCV000017620;RCV000078148	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C1708350;150800;ORPHA523;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913121
Clinvar_Rec_5501	rs878853692	Uncertain significance	Fumarase deficiency;Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer	RCV000229267;RCV000765098;RCV000765098	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0342770;606812;ORPHA24;237983002;MedGen;606812;ORPHA24;237983002;Human Phenotype Ontology;C1708350;150800;ORPHA523	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853692
Clinvar_Rec_5502	rs878855133	Conflicting interpretations of pathogenicity	Inborn genetic diseases;heterogeneous nuclear ribonucleoprotein G, human	RCV000624065;RCV000227748	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs878855133
Clinvar_Rec_5503	rs199740131	Uncertain significance	heterogeneous nuclear ribonucleoprotein G, human	RCV000461280	MedGen	C1723387	criteria provided, single submitter	tagSNP	rs199740131
Clinvar_Rec_5504	rs1135401732	Uncertain significance	History of neurodevelopmental disorder	RCV000716844	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1135401732
Clinvar_Rec_5505	rs1135401732	Pathogenic	Epileptic encephalopathy	RCV000496124	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1135401732
Clinvar_Rec_5506	rs180177461	Uncertain significance	Cryopyrin associated periodic syndrome;Familial cold urticaria	RCV001037381;RCV000084201	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2316212;ORPHA208650;430079001;MedGen;120100;ORPHA47045;238687000	criteria provided, single submitter	tagSNP	rs180177461
Clinvar_Rec_5507	rs180177467	not provided	Familial cold urticaria	RCV000084211	MedGen;OMIM;Orphanet;SNOMED CT	C4551895;120100;ORPHA47045;238687000	no assertion provided	tagSNP	rs180177467
Clinvar_Rec_5508	rs138061418	Uncertain significance	Cryopyrin associated periodic syndrome;not provided	RCV001040235;RCV000523103	MedGen;Orphanet;SNOMED CT	C2316212;ORPHA208650;430079001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138061418
Clinvar_Rec_5509	rs17650901	Benign	MAPT-Related Spectrum Disorders;not specified	RCV000359222;RCV000251203	MedGen	CN239327;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17650901
Clinvar_Rec_5510	rs193920968	Uncertain significance	Malignant tumor of prostate	RCV000149239	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920968
Clinvar_Rec_5511	rs886053044	Uncertain significance	MAPT-Related Spectrum Disorders	RCV000360463	MedGen	CN239327	criteria provided, single submitter	tagSNP	rs886053044
Clinvar_Rec_5512	rs886053048	Uncertain significance	MAPT-Related Spectrum Disorders	RCV000272039	MedGen	CN239327	criteria provided, single submitter	tagSNP	rs886053048
Clinvar_Rec_5513	rs886053066	Uncertain significance	Syndromic intellectual disability	RCV000394891	MedGen;Orphanet	CN225415;ORPHA183763	criteria provided, single submitter	tagSNP	rs886053066
Clinvar_Rec_5514	rs373668834	Likely benign	MAPT-Related Spectrum Disorders;Syndromic intellectual disability	RCV000274812;RCV000303994	MedGen;Orphanet	CN239327;MedGen;ORPHA183763	criteria provided, single submitter	tagSNP	rs373668834
Clinvar_Rec_5515	rs767896466	Uncertain significance	Syndromic intellectual disability	RCV000358799	MedGen;Orphanet	CN225415;ORPHA183763	criteria provided, single submitter	tagSNP	rs767896466
Clinvar_Rec_5516	rs777308407	Likely benign	Koolen-de Vries syndrome	RCV000536525	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	criteria provided, single submitter	tagSNP	rs777308407
Clinvar_Rec_5517	rs1555575405	Pathogenic	Koolen-de Vries syndrome	RCV000656400	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	criteria provided, single submitter	tagSNP	rs1555575405
Clinvar_Rec_5518	rs767021119	Uncertain significance	Koolen-de Vries syndrome	RCV000644664	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	criteria provided, single submitter	tagSNP	rs767021119
Clinvar_Rec_5519	rs1555575518	Likely benign	Koolen-de Vries syndrome	RCV000644697	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	criteria provided, single submitter	tagSNP	rs1555575518
Clinvar_Rec_5520	rs199948200	Conflicting interpretations of pathogenicity	Koolen-de Vries syndrome;Syndromic intellectual disability;not specified	RCV000694560;RCV000311777;RCV000420400	MedGen;OMIM;Orphanet;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169;MedGen;ORPHA183763;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199948200
Clinvar_Rec_5521	rs549416594	Conflicting interpretations of pathogenicity	Progressive myoclonic epilepsy;not provided;not specified	RCV000364005;RCV000858536;RCV000187614	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, conflicting interpretations	LD derived	rs143754727
Clinvar_Rec_5522	rs773543394	Uncertain significance	Progressive myoclonic epilepsy	RCV000475719	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs773543394
Clinvar_Rec_5523	rs150907052	Uncertain significance	Progressive myoclonic epilepsy;not provided	RCV000461893;RCV000187616	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150907052
Clinvar_Rec_5524	rs990159762	Uncertain significance	Progressive myoclonic epilepsy	RCV000551466	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs990159762
Clinvar_Rec_5525	rs758392	Benign	Progressive myoclonic epilepsy	RCV000379876	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs758392
Clinvar_Rec_5526	rs758392	Benign	Progressive myoclonic epilepsy	RCV000367699	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs758391
Clinvar_Rec_5527	rs886053082	Uncertain significance	Progressive myoclonic epilepsy	RCV000326463	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs886053082
Clinvar_Rec_5528	rs121918448	Benign	Mo ALLOANTIGEN POLYMORPHISM	RCV000014525	-	-	no assertion criteria provided	tagSNP	rs121918448
Clinvar_Rec_5529	rs886053099	Uncertain significance	Pyridoxal phosphate-responsive seizures	RCV000351384	MedGen;OMIM;Orphanet	C1864723;610090;ORPHA79096	criteria provided, single submitter	tagSNP	rs886053099
Clinvar_Rec_5530	rs757023013	Uncertain significance	Pyridoxal phosphate-responsive seizures	RCV000698165	MedGen;OMIM;Orphanet	C1864723;610090;ORPHA79096	criteria provided, single submitter	tagSNP	rs757023013
Clinvar_Rec_5531	rs1555558604	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000570244	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555558604
Clinvar_Rec_5532	rs1057519968	Likely pathogenic	Adenocarcinoma of prostate;Malignant neoplasm of body of uterus	RCV000440119;RCV000431201	MedGen;Orphanet	C0007112;MedGen;ORPHA213569	no assertion criteria provided	tagSNP	rs1057519968
Clinvar_Rec_5533	rs1057519968	Likely pathogenic	Adenocarcinoma of prostate;Malignant neoplasm of body of uterus	RCV000422129;RCV000439381	MedGen;Orphanet	C0007112;MedGen;ORPHA213569	no assertion criteria provided	tagSNP	rs1057519968
Clinvar_Rec_5534	rs886053146	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant	RCV000276244;RCV000353441;RCV000300899	MedGen;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen	criteria provided, single submitter	tagSNP	rs886053146
Clinvar_Rec_5535	rs564917505	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant	RCV000270815;RCV000315320;RCV000369990	MedGen;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen	criteria provided, single submitter	tagSNP	rs564917505
Clinvar_Rec_5536	rs1555572013	Likely pathogenic	Osteogenesis imperfecta type I	RCV000559468	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555572013
Clinvar_Rec_5537	rs72651657	Pathogenic	Osteogenesis imperfecta, recessive perinatal lethal	RCV000018879	MedGen;OMIM;Orphanet;SNOMED CT	C0268360;166210;ORPHA216804;86470003	no assertion criteria provided	tagSNP	rs72651657
Clinvar_Rec_5538	rs72651651	Pathogenic	Osteogenesis imperfecta, recessive perinatal lethal	RCV000018830	MedGen;OMIM;Orphanet;SNOMED CT	C0268360;166210;ORPHA216804;86470003	no assertion criteria provided	tagSNP	rs72651651
Clinvar_Rec_5539	rs1394634754	Uncertain significance	Osteogenesis imperfecta type I	RCV000559356	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1394634754
Clinvar_Rec_5540	rs72645328	Likely pathogenic	Osteogenesis imperfecta type I	RCV000631491	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs72645328
Clinvar_Rec_5541	rs72645328	Likely pathogenic	Osteogenesis imperfecta	RCV000029584	MeSH;MedGen;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001	criteria provided, single submitter	tagSNP	rs72645328
Clinvar_Rec_5542	rs1555575835	Uncertain significance	Osteogenesis imperfecta type I	RCV000549872	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555575835
Clinvar_Rec_5543	rs1555575889	Pathogenic	Osteogenesis imperfecta type I	RCV000631497	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555575889
Clinvar_Rec_5544	rs200689194	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant	RCV000392860;RCV000302289;RCV000365246	MedGen;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen	criteria provided, single submitter	tagSNP	rs200689194
Clinvar_Rec_5545	rs149856323	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000579526;RCV000127687	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs188613030
Clinvar_Rec_5546	rs876659585	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000214872	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659585
Clinvar_Rec_5547	rs1369125082	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776843	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1369125082
Clinvar_Rec_5548	rs1567818564	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome	RCV000776907	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1567818564
Clinvar_Rec_5549	rs142113543	Uncertain significance	Mulibrey nanism syndrome	RCV000401444	MedGen;OMIM;Orphanet;SNOMED CT	C0524582;253250;ORPHA2576;81604003	criteria provided, single submitter	tagSNP	rs142113543
Clinvar_Rec_5550	rs1568017495	Uncertain significance	Mulibrey nanism syndrome	RCV000714726	MedGen;OMIM;Orphanet;SNOMED CT	C0524582;253250;ORPHA2576;81604003	criteria provided, single submitter	tagSNP	rs1568017495
Clinvar_Rec_5551	rs75823514	Uncertain significance	Alport syndrome	RCV000336856	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	LD derived	rs77079951
Clinvar_Rec_5552	rs75823514	Uncertain significance	Alport syndrome	RCV000368066	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	LD derived	rs77268230
Clinvar_Rec_5553	rs374119389	Uncertain significance	Alport syndrome 3, autosomal dominant;not specified	RCV000735763;RCV000825906	MedGen;OMIM;Orphanet	C4746547;104200;ORPHA88918;MedGen	criteria provided, single submitter	tagSNP	rs374119389
Clinvar_Rec_5554	rs756864477	Uncertain significance	Biotin-thiamine-responsive basal ganglia disease	RCV000542921	MedGen;OMIM;Orphanet	C1843807;607483;ORPHA65284	criteria provided, single submitter	tagSNP	rs756864477
Clinvar_Rec_5555	rs1553591922	Pathogenic	Inborn genetic diseases	RCV000622295	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553591922
Clinvar_Rec_5556	rs181058279	Uncertain significance	Hepatic veno-occlusive disease-immunodeficiency syndrome	RCV000339429	MedGen;OMIM;Orphanet	C1856128;235550;ORPHA79124	criteria provided, multiple submitters, no conflicts	tagSNP	rs181058279
Clinvar_Rec_5557	rs181058279	Uncertain significance	Hepatic veno-occlusive disease-immunodeficiency syndrome	RCV000700531	MedGen;OMIM;Orphanet	C1856128;235550;ORPHA79124	criteria provided, single submitter	tagSNP	rs181058279
Clinvar_Rec_5558	rs557430836	Uncertain significance	Perlman syndrome	RCV000304333	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, multiple submitters, no conflicts	LD derived	rs201453807
Clinvar_Rec_5559	rs1553610371	Pathogenic	Perlman syndrome	RCV000559063	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs1553610371
Clinvar_Rec_5560	rs780127954	Uncertain significance	Perlman syndrome	RCV000541145	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs780127954
Clinvar_Rec_5561	rs373401005	Likely benign	Perlman syndrome	RCV000365304	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs373401005
Clinvar_Rec_5562	rs373401005	Benign/Likely benign	Perlman syndrome;not specified	RCV000325489;RCV000251804	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148474013
Clinvar_Rec_5563	rs140441798	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;not provided;not specified	RCV000324786;RCV000726174;RCV000358963	MedGen	CN117976;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140441798
Clinvar_Rec_5564	rs115757876	Benign/Likely benign	Collagen VI-related myopathy;not provided;not specified	RCV000350555;RCV000871918;RCV000428967	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115757876
Clinvar_Rec_5565	rs145581705	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;not provided;not specified	RCV000359862;RCV000727109;RCV000592983	MedGen	CN117976;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145581705
Clinvar_Rec_5566	rs201467603	Uncertain significance	Bethlem myopathy 1;not provided	RCV000690650;RCV000177882	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201467603
Clinvar_Rec_5567	rs35902696	Benign/Likely benign	Bethlem myopathy 1;Collagen VI-related myopathy;Ullrich congenital muscular dystrophy 1;not provided;not specified	RCV000576383;RCV000392872;RCV000576383;RCV000538533;RCV000080983	MedGen;OMIM;OMIM	CN029274;158810;MedGen;254090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35902696
Clinvar_Rec_5568	rs113961575	Benign/Likely benign	Collagen VI-related myopathy;not provided;not specified	RCV000308898;RCV000526326;RCV000080981	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113961575
Clinvar_Rec_5569	rs794729205	Likely pathogenic	Bethlem myopathy 1	RCV000987062	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs794729205
Clinvar_Rec_5570	rs3790993	Benign	Bethlem myopathy 1;Collagen VI-related myopathy;Ullrich congenital muscular dystrophy 1;not specified	RCV000576370;RCV000276863;RCV000576370;RCV000080973	MedGen;OMIM;OMIM	CN029274;158810;MedGen;254090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3790993
Clinvar_Rec_5571	rs773631759	Uncertain significance	Bethlem myopathy 1	RCV000551304	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs773631759
Clinvar_Rec_5572	rs2646260	Benign	Collagen VI-related myopathy;not specified	RCV000405778;RCV000080938	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2646260
Clinvar_Rec_5573	rs779028054	Uncertain significance	Bethlem myopathy 1;not provided	RCV000688426;RCV000522488	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs779028054
Clinvar_Rec_5574	rs114852262	Likely benign	Collagen VI-related myopathy	RCV000353967	MedGen	CN117976	criteria provided, single submitter	tagSNP	rs114852262
Clinvar_Rec_5575	rs369810455	Conflicting interpretations of pathogenicity	Bethlem myopathy 1;Collagen VI-related myopathy;not provided	RCV000686574;RCV000384051;RCV000731144	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369810455
Clinvar_Rec_5576	rs746265516	Uncertain significance	Bethlem myopathy 1	RCV000694795	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs746265516
Clinvar_Rec_5577	rs753557181	Uncertain significance	Bethlem myopathy 1;not provided	RCV000803847;RCV000733546	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753557181
Clinvar_Rec_5578	rs112010940	Benign/Likely benign	Collagen VI-related myopathy;not provided;not specified	RCV000358271;RCV000537530;RCV000080912	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112010940
Clinvar_Rec_5579	rs112010940	Benign/Likely benign	Collagen VI-related myopathy;not provided;not specified	RCV000303469;RCV000545188;RCV000080913	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113897824
Clinvar_Rec_5580	rs754618002	Uncertain significance	Bethlem myopathy 1;not provided	RCV001056025;RCV000367034	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754618002
Clinvar_Rec_5581	rs138673610	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;not provided;not specified	RCV000312400;RCV000726315;RCV000276562	MedGen	CN117976;MedGen	criteria provided, conflicting interpretations	LD derived	rs183247300
Clinvar_Rec_5582	rs372499275	Pathogenic	Short rib-polydactyly syndrome, Majewski type	RCV000515883	MedGen;OMIM;Orphanet;SNOMED CT	C0024507;263520;ORPHA93269;72922008	no assertion criteria provided	tagSNP	rs372499275
Clinvar_Rec_5583	rs886037897	Pathogenic	Senior-Loken syndrome 9	RCV000240622	MedGen;OMIM	C4225263;616629	no assertion criteria provided	tagSNP	rs886037897
Clinvar_Rec_5584	rs571713162	Uncertain significance	Immunodeficiency 51	RCV000548005	MedGen;OMIM	C4310803;613953	criteria provided, single submitter	LD derived	rs41510847
Clinvar_Rec_5585	rs767714232	Conflicting interpretations of pathogenicity	Familial Candidiasis, Recessive;not provided	RCV000280527;RCV000908527	MedGen	CN239217;MedGen	criteria provided, conflicting interpretations	tagSNP	rs767714232
Clinvar_Rec_5586	rs1281144372	Uncertain significance	Immunodeficiency 51	RCV000692392	MedGen;OMIM	C4310803;613953	criteria provided, single submitter	tagSNP	rs1281144372
Clinvar_Rec_5587	rs531802251	Likely pathogenic	Meier-gorlin syndrome 7	RCV000239541	MedGen;OMIM	C4310738;617063	criteria provided, single submitter	LD derived	rs540217942
Clinvar_Rec_5588	rs1553517274	Likely pathogenic	Early infantile epileptic encephalopathy 62;Inborn genetic diseases	RCV000625714;RCV000622981	MedGen;OMIM;MedGen	C4693699;617938;MeSH;C0950123	criteria provided, single submitter	tagSNP	rs1553517274
Clinvar_Rec_5589	rs148275498	Conflicting interpretations of pathogenicity	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not specified	RCV000808588;RCV000808588;RCV000189219	MedGen;OMIM;Orphanet;OMIM	C1843140;607745;ORPHA140927;MedGen;613721;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148275498
Clinvar_Rec_5590	rs796053124	Pathogenic/Likely pathogenic	Early infantile epileptic encephalopathy 11;Episodic ataxia;Seizures;Vertigo;not provided	RCV000195526;RCV000417104;RCV000417104;RCV000417104;RCV000189127	MedGen;OMIM;MedGen;Orphanet;MedGen;MedGen	C3150987;613721;Human Phenotype Ontology;C1720189;ORPHA211062;Human Phenotype Ontology;C0036572;Human Phenotype Ontology;C0042571;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053124
Clinvar_Rec_5591	rs769267899	Uncertain significance	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	RCV000531828;RCV000531828	MedGen;OMIM;Orphanet;OMIM	C1843140;607745;ORPHA140927;MedGen;613721	criteria provided, single submitter	tagSNP	rs769267899
Clinvar_Rec_5592	rs574867892	Likely benign	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000297100;RCV000404607	MedGen;OMIM;Orphanet	C1843140;607745;ORPHA140927;MedGen	criteria provided, single submitter	tagSNP	rs574867892
Clinvar_Rec_5593	rs145926679	Conflicting interpretations of pathogenicity	Jeune thoracic dystrophy;Joubert syndrome;not provided;not specified	RCV000355902;RCV000265946;RCV000537482;RCV000244055	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT	C0265275;ORPHA474;75049004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145926679
Clinvar_Rec_5594	rs121918751	Likely pathogenic	Seizures;Severe myoclonic epilepsy in infancy;not provided	RCV000193290;RCV000059542;RCV000478850	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0036572;MedGen;607208;ORPHA33069;230437002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918751
Clinvar_Rec_5595	rs1553472678	Likely benign	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000528956;RCV000528956	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1553472678
Clinvar_Rec_5596	rs371454107	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIA;Indifference to pain, congenital, autosomal recessive;Paroxysmal extreme pain disorder;Primary erythromelalgia;Severe myoclonic epilepsy in infancy	RCV000525486;RCV000765521;RCV000525486;RCV000765521;RCV000765521;RCV000765521;RCV000765521;RCV000765521	MedGen;OMIM;OMIM;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C2751777;613863;MedGen;613863;MedGen;201300;MedGen;201300;MedGen;243000;ORPHA88642;MedGen;167400;ORPHA46348;MedGen;133020;ORPHA90026;403390002;MedGen;607208;ORPHA33069;230437002	criteria provided, multiple submitters, no conflicts	tagSNP	rs371454107
Clinvar_Rec_5597	rs748702835	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000541499;RCV000541499	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs748702835
Clinvar_Rec_5598	rs201196474	Likely benign	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000647805;RCV000647805	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs201196474
Clinvar_Rec_5599	rs1553473075	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000552783;RCV000552783	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1553473075
Clinvar_Rec_5600	rs1303872643	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000695352;RCV000695352	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1303872643
Clinvar_Rec_5601	rs886055054	Uncertain significance	Congenital Indifference to Pain;Familial febrile seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy	RCV000377883;RCV000263194;RCV000259501;RCV000355704;RCV000320749;RCV000317312;RCV000370748	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0002768;MedGen;ORPHA36387;MedGen;167400;ORPHA46348;MedGen;607208;ORPHA33069;230437002;MedGen	criteria provided, single submitter	tagSNP	rs886055054
Clinvar_Rec_5602	rs200398202	Pathogenic	Small fiber neuropathy	RCV000023303	MedGen	C3276706	no assertion criteria provided	tagSNP	rs200398202
Clinvar_Rec_5603	rs201994523	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided	RCV000541246;RCV000541246;RCV000222473	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201994523
Clinvar_Rec_5604	rs141770128	Uncertain significance	Vertical talus, congenital	RCV000289648	MedGen;OMIM;Orphanet	C0240912;192950;ORPHA178382	criteria provided, single submitter	tagSNP	rs141770128
Clinvar_Rec_5605	rs144160937	Likely benign	Vertical talus, congenital	RCV000342309	MedGen;OMIM;Orphanet	C0240912;192950;ORPHA178382	criteria provided, single submitter	tagSNP	rs144160937
Clinvar_Rec_5606	rs375878040	Uncertain significance	Cardiovascular phenotype;not provided;not specified	RCV000619806;RCV000993421;RCV000184953	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs145940356
Clinvar_Rec_5607	rs281864929	Pathogenic	Tibial muscular dystrophy	RCV000031996	MedGen;OMIM;Orphanet	C1838244;600334;ORPHA609	no assertion criteria provided	tagSNP	rs281864929
Clinvar_Rec_5608	rs281864930	Pathogenic	Limb-girdle muscular dystrophy, type 2J;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV001004988;RCV000844994;RCV000031995;RCV000184369	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1837342;608807;ORPHA140922;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs281864930
Clinvar_Rec_5609	rs281864927	Pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Limb-girdle muscular dystrophy, type 2J;Tibial muscular dystrophy;not provided	RCV000700718;RCV000013488;RCV000700718;RCV000013487;RCV000406890	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen;608807;ORPHA140922;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs281864927
Clinvar_Rec_5610	rs55842557	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769842;RCV000253556;RCV000286567;RCV000382062;RCV000287599;RCV000395312;RCV000347285;RCV000341504;RCV000231148;RCV000040981	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs55842557
Clinvar_Rec_5611	rs55842557	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768825;RCV000245559;RCV000364115;RCV000269621;RCV000312358;RCV000328153;RCV000272409;RCV000366919;RCV000233825;RCV000040946	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56375087
Clinvar_Rec_5612	rs55842557	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769135;RCV000250117;RCV000385248;RCV000347004;RCV000380733;RCV000266423;RCV000288662;RCV000323811;RCV000225777;RCV000040288	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs36021856
Clinvar_Rec_5613	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621659;RCV000381369;RCV000291689;RCV000387195;RCV000293061;RCV000326652;RCV000346612;RCV000227205;RCV000040980	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs56324602
Clinvar_Rec_5614	rs56324602	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769836;RCV000618405;RCV000230372;RCV000040992	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55832587
Clinvar_Rec_5615	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000622061;RCV000852775;RCV000082470;RCV000040921	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs56347248
Clinvar_Rec_5616	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621955;RCV000852778;RCV000082468;RCV000040912	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs55669553
Clinvar_Rec_5617	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617994;RCV000356538;RCV000359808;RCV000390557;RCV000296950;RCV000404052;RCV000305106;RCV000226522;RCV000040907	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55802460
Clinvar_Rec_5618	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621363;RCV000358348;RCV000361710;RCV000259981;RCV000265994;RCV000304712;RCV000318302;RCV000230871;RCV000040892	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56026369
Clinvar_Rec_5619	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620463;RCV000300087;RCV000367607;RCV000352349;RCV000391894;RCV000312817;RCV000391901;RCV000228196;RCV000040872	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs138968178
Clinvar_Rec_5620	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620998;RCV000852787;RCV000082453;RCV000040824	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs191484894
Clinvar_Rec_5621	rs56324602	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618754;RCV000231826;RCV000040819	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140663434
Clinvar_Rec_5622	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621123;RCV000852791;RCV000082447;RCV000040783	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs148617456
Clinvar_Rec_5623	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000618823;RCV000278620;RCV000852794;RCV000342088;RCV000327591;RCV000373393;RCV000376846;RCV000286969;RCV000082445;RCV000040770	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs150430592
Clinvar_Rec_5624	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617583;RCV000310741;RCV000852796;RCV000266286;RCV000364179;RCV000269727;RCV000365525;RCV000320246;RCV000082444;RCV000040766	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149567378
Clinvar_Rec_5625	rs56324602	Benign	Cardiovascular phenotype;not provided;not specified	RCV000617446;RCV000226927;RCV000040763	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142891278
Clinvar_Rec_5626	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620318;RCV000277428;RCV000852805;RCV000331336;RCV000316062;RCV000280746;RCV000373068;RCV000369656;RCV000082434;RCV000040684	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56264840
Clinvar_Rec_5627	rs56324602	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769953;RCV000619087;RCV000326784;RCV000302121;RCV000381449;RCV000271701;RCV000366295;RCV000277214;RCV000228478;RCV000040586	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56293906
Clinvar_Rec_5628	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620024;RCV000852822;RCV000082419;RCV000040483	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs150661999
Clinvar_Rec_5629	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621779;RCV000297936;RCV000358464;RCV000267176;RCV000354983;RCV000265279;RCV000324817;RCV000234615;RCV000040397	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55956577
Clinvar_Rec_5630	rs56324602	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770020;RCV000618761;RCV000278424;RCV000852849;RCV000372977;RCV000321923;RCV000376541;RCV000282058;RCV000318292;RCV000082412;RCV000040306	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55663050
Clinvar_Rec_5631	rs56324602	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618718;RCV000234767;RCV000040298	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146163169
Clinvar_Rec_5632	rs56324602	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000619989;RCV000406274;RCV000852853;RCV000403243;RCV000349511;RCV000369133;RCV000314422;RCV000299345;RCV000082410;RCV000040283	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146181477
Clinvar_Rec_5633	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000399534;RCV000852870;RCV000261047;RCV000309400;RCV000315049;RCV000369677;RCV000350143;RCV000082392;RCV000040174	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs140640738
Clinvar_Rec_5634	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000394456;RCV000337940;RCV000287114;RCV000339794;RCV000404515;RCV000299397;RCV000230929;RCV000040103	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs188584219
Clinvar_Rec_5635	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000280234;RCV000852888;RCV000338683;RCV000374655;RCV000387544;RCV000293034;RCV000333108;RCV000082380;RCV000040029	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149855485
Clinvar_Rec_5636	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000351256;RCV000311931;RCV000393808;RCV000368985;RCV000308004;RCV000393824;RCV000226020;RCV000039995	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs185062935
Clinvar_Rec_5637	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000352590;RCV000852891;RCV000280089;RCV000390050;RCV000335014;RCV000406710;RCV000293069;RCV000082372;RCV000039991	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149523263
Clinvar_Rec_5638	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000264795;RCV000852896;RCV000374065;RCV000304724;RCV000319862;RCV000359492;RCV000260706;RCV000082367;RCV000039937	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146627500
Clinvar_Rec_5639	rs56324602	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000342596;RCV000852901;RCV000390436;RCV000355321;RCV000262868;RCV000302779;RCV000296922;RCV000082364;RCV000039916	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs184412722
Clinvar_Rec_5640	rs56324602	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620901;RCV000852921;RCV000172702;RCV000041110	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55857742
Clinvar_Rec_5641	rs56324602	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770156;RCV000308895;RCV000268886;RCV000267712;RCV000326312;RCV000365866;RCV000359959;RCV000227722;RCV000039981	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs190935632
Clinvar_Rec_5642	rs56324602	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769138;RCV000248787;RCV000226691;RCV000039867	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs55972547
Clinvar_Rec_5643	rs56324602	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769146;RCV000244934;RCV000386983;RCV000292753;RCV000371811;RCV000317186;RCV000318413;RCV000282036;RCV000234634;RCV000040314	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56137037
Clinvar_Rec_5644	rs56365812	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000245580;RCV000643340;RCV000643340;RCV000040929	MedGen;OMIM;OMIM;Orphanet	CN230736;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs33997263
Clinvar_Rec_5645	rs56365812	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000229261;RCV000229261	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	LD derived	rs33997263
Clinvar_Rec_5646	rs56365812	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Muscular dystrophy;Primary dilated cardiomyopathy;not provided	RCV000707086;RCV000707086;RCV000503453;RCV000039959;RCV000184208	MedGen;OMIM;OMIM;Orphanet;MeSH;MedGen;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C1858763;604145;MedGen;608807;ORPHA140922;Human Phenotype Ontology;D009136;C0026850;ORPHA98473;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, conflicting interpretations	LD derived	rs397517497
Clinvar_Rec_5647	rs764821435	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643218;RCV000643218	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs764821435
Clinvar_Rec_5648	rs1060500584	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000460037;RCV000460037	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500584
Clinvar_Rec_5649	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617994;RCV000356538;RCV000359808;RCV000390557;RCV000296950;RCV000404052;RCV000305106;RCV000226522;RCV000040907	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs55802460
Clinvar_Rec_5650	rs55802460	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769836;RCV000618405;RCV000230372;RCV000040992	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55832587
Clinvar_Rec_5651	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621659;RCV000381369;RCV000291689;RCV000387195;RCV000293061;RCV000326652;RCV000346612;RCV000227205;RCV000040980	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56324602
Clinvar_Rec_5652	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000622061;RCV000852775;RCV000082470;RCV000040921	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs56347248
Clinvar_Rec_5653	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621955;RCV000852778;RCV000082468;RCV000040912	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs55669553
Clinvar_Rec_5654	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621363;RCV000358348;RCV000361710;RCV000259981;RCV000265994;RCV000304712;RCV000318302;RCV000230871;RCV000040892	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56026369
Clinvar_Rec_5655	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620463;RCV000300087;RCV000367607;RCV000352349;RCV000391894;RCV000312817;RCV000391901;RCV000228196;RCV000040872	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs138968178
Clinvar_Rec_5656	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620998;RCV000852787;RCV000082453;RCV000040824	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs191484894
Clinvar_Rec_5657	rs55802460	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618754;RCV000231826;RCV000040819	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140663434
Clinvar_Rec_5658	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621123;RCV000852791;RCV000082447;RCV000040783	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs148617456
Clinvar_Rec_5659	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000618823;RCV000278620;RCV000852794;RCV000342088;RCV000327591;RCV000373393;RCV000376846;RCV000286969;RCV000082445;RCV000040770	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs150430592
Clinvar_Rec_5660	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617583;RCV000310741;RCV000852796;RCV000266286;RCV000364179;RCV000269727;RCV000365525;RCV000320246;RCV000082444;RCV000040766	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149567378
Clinvar_Rec_5661	rs55802460	Benign	Cardiovascular phenotype;not provided;not specified	RCV000617446;RCV000226927;RCV000040763	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142891278
Clinvar_Rec_5662	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620318;RCV000277428;RCV000852805;RCV000331336;RCV000316062;RCV000280746;RCV000373068;RCV000369656;RCV000082434;RCV000040684	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56264840
Clinvar_Rec_5663	rs55802460	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769953;RCV000619087;RCV000326784;RCV000302121;RCV000381449;RCV000271701;RCV000366295;RCV000277214;RCV000228478;RCV000040586	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56293906
Clinvar_Rec_5664	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620024;RCV000852822;RCV000082419;RCV000040483	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs150661999
Clinvar_Rec_5665	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621779;RCV000297936;RCV000358464;RCV000267176;RCV000354983;RCV000265279;RCV000324817;RCV000234615;RCV000040397	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55956577
Clinvar_Rec_5666	rs55802460	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770020;RCV000618761;RCV000278424;RCV000852849;RCV000372977;RCV000321923;RCV000376541;RCV000282058;RCV000318292;RCV000082412;RCV000040306	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55663050
Clinvar_Rec_5667	rs55802460	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618718;RCV000234767;RCV000040298	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146163169
Clinvar_Rec_5668	rs55802460	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000619989;RCV000406274;RCV000852853;RCV000403243;RCV000349511;RCV000369133;RCV000314422;RCV000299345;RCV000082410;RCV000040283	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146181477
Clinvar_Rec_5669	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000399534;RCV000852870;RCV000261047;RCV000309400;RCV000315049;RCV000369677;RCV000350143;RCV000082392;RCV000040174	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs140640738
Clinvar_Rec_5670	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000394456;RCV000337940;RCV000287114;RCV000339794;RCV000404515;RCV000299397;RCV000230929;RCV000040103	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs188584219
Clinvar_Rec_5671	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000280234;RCV000852888;RCV000338683;RCV000374655;RCV000387544;RCV000293034;RCV000333108;RCV000082380;RCV000040029	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149855485
Clinvar_Rec_5672	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000351256;RCV000311931;RCV000393808;RCV000368985;RCV000308004;RCV000393824;RCV000226020;RCV000039995	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs185062935
Clinvar_Rec_5673	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000352590;RCV000852891;RCV000280089;RCV000390050;RCV000335014;RCV000406710;RCV000293069;RCV000082372;RCV000039991	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149523263
Clinvar_Rec_5674	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000264795;RCV000852896;RCV000374065;RCV000304724;RCV000319862;RCV000359492;RCV000260706;RCV000082367;RCV000039937	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146627500
Clinvar_Rec_5675	rs55802460	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000342596;RCV000852901;RCV000390436;RCV000355321;RCV000262868;RCV000302779;RCV000296922;RCV000082364;RCV000039916	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs184412722
Clinvar_Rec_5676	rs55802460	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620901;RCV000852921;RCV000172702;RCV000041110	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55857742
Clinvar_Rec_5677	rs55802460	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770156;RCV000308895;RCV000268886;RCV000267712;RCV000326312;RCV000365866;RCV000359959;RCV000227722;RCV000039981	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs190935632
Clinvar_Rec_5678	rs55802460	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769138;RCV000248787;RCV000226691;RCV000039867	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs55972547
Clinvar_Rec_5679	rs55802460	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769146;RCV000244934;RCV000386983;RCV000292753;RCV000371811;RCV000317186;RCV000318413;RCV000282036;RCV000234634;RCV000040314	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56137037
Clinvar_Rec_5680	rs368168812	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618742;RCV000458005;RCV000040901	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368168812
Clinvar_Rec_5681	rs368168812	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000688066;RCV000688066	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	LD derived	rs116604145
Clinvar_Rec_5682	rs368168812	Benign	Cardiovascular phenotype;not provided;not specified	RCV000622252;RCV000469210;RCV000040984	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116604145
Clinvar_Rec_5683	rs368168812	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618903;RCV000465115;RCV000040832	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs372773283
Clinvar_Rec_5684	rs368168812	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000620713;RCV000458036;RCV000040398	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114711705
Clinvar_Rec_5685	rs748796464	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000546913;RCV000546913	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs748796464
Clinvar_Rec_5686	rs1445687820	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000691316;RCV000691316;RCV001008990	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1445687820
Clinvar_Rec_5687	rs1018386868	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643802;RCV000643802	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1018386868
Clinvar_Rec_5688	rs190967471	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000465659;RCV000465659;RCV000723663;RCV000259070	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs190967471
Clinvar_Rec_5689	rs190967471	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000244743;RCV000082454	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs183620684
Clinvar_Rec_5690	rs760917372	Uncertain significance	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000331733;RCV000540534;RCV000318571;RCV000373215;RCV000540534;RCV000386284;RCV000282308;RCV000276620;RCV000322337	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760917372
Clinvar_Rec_5691	rs368877793	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000622118;RCV000525675;RCV000525675;RCV000725120;RCV000040877	MedGen;OMIM;OMIM;Orphanet	CN230736;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368877793
Clinvar_Rec_5692	rs367979582	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000339727;RCV000527211;RCV000399380;RCV000278672;RCV000527211;RCV000343230;RCV000393696;RCV000284749;RCV000172178;RCV000213432	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367979582
Clinvar_Rec_5693	rs764039252	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000534247;RCV000534247	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs764039252
Clinvar_Rec_5694	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769870;RCV000248418;RCV000298233;RCV000407542;RCV000400220;RCV000352941;RCV000299281;RCV000351970;RCV000471009;RCV000040843	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56027402
Clinvar_Rec_5695	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769876;RCV000251771;RCV000308522;RCV000365444;RCV000305000;RCV000407843;RCV000362062;RCV000390397;RCV000473853;RCV000040827	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648260
Clinvar_Rec_5696	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768872;RCV000243704;RCV000350233;RCV000318588;RCV000292793;RCV000261084;RCV000371834;RCV000375496;RCV000458591;RCV000040736	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648229
Clinvar_Rec_5697	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769920;RCV000248670;RCV000344903;RCV000328118;RCV000376816;RCV000284840;RCV000384418;RCV000287691;RCV000456597;RCV000040702	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56057221
Clinvar_Rec_5698	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768899;RCV000253619;RCV000259436;RCV000373891;RCV000332195;RCV000284274;RCV000372601;RCV000319243;RCV000467367;RCV000040689	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56309296
Clinvar_Rec_5699	rs56027402	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768908;RCV000245640;RCV000391837;RCV000363340;RCV000284246;RCV000306356;RCV000341624;RCV000391841;RCV000456141;RCV000040675	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56365600
Clinvar_Rec_5700	rs776263585	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000552187;RCV000552187	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs776263585
Clinvar_Rec_5701	rs869312084	Likely pathogenic	Primary dilated cardiomyopathy	RCV000209411	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs869312084
Clinvar_Rec_5702	rs794729538	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000530105	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs794729538
Clinvar_Rec_5703	rs1559147244	Uncertain significance	Cardiomyopathy	RCV000768852	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1559147244
Clinvar_Rec_5704	rs1164809267	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643778;RCV000643778	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1164809267
Clinvar_Rec_5705	rs72648255	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621726;RCV000397865;RCV000286653;RCV000341684;RCV000290312;RCV000345101;RCV000402372;RCV000228324;RCV000040813	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72648255
Clinvar_Rec_5706	rs1553525592	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642799;RCV000642799	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553525592
Clinvar_Rec_5707	rs1321500671	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000532544;RCV000532544	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1321500671
Clinvar_Rec_5708	rs370894846	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000768856;RCV000727162;RCV000154891	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370894846
Clinvar_Rec_5709	rs371666313	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000475084;RCV000475084	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs371666313
Clinvar_Rec_5710	rs1379558944	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000643524;RCV000643524;RCV000591570	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1379558944
Clinvar_Rec_5711	rs1553532340	Uncertain significance	Cardiovascular phenotype	RCV000619066	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1553532340
Clinvar_Rec_5712	rs1553532356	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642695;RCV000642695	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553532356
Clinvar_Rec_5713	rs77968867	Benign/Likely benign	Cardiomyopathy;Dilated cardiomyopathy;not provided;not specified	RCV000768860;RCV000852788;RCV000714120;RCV000040794	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77968867
Clinvar_Rec_5714	rs77968867	Benign/Likely benign	Cardiomyopathy;Dilated cardiomyopathy;not provided;not specified	RCV000769853;RCV000852777;RCV000713952;RCV000040914	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs144963736
Clinvar_Rec_5715	rs762590394	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000279338;RCV000292331;RCV000371523;RCV000405703;RCV000350645;RCV000349657;RCV000871575	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs762590394
Clinvar_Rec_5716	rs1379791737	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000537793;RCV000537793	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1379791737
Clinvar_Rec_5717	rs373722546	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000642932;RCV000642932;RCV000726510;RCV000598462	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373722546
Clinvar_Rec_5718	rs773840992	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000642763;RCV000642763;RCV000400613	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773840992
Clinvar_Rec_5719	rs886039117	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000251890;RCV000642979;RCV000642979;RCV000827153	MedGen;OMIM;OMIM;Orphanet	CN230736;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886039117
Clinvar_Rec_5720	rs747181293	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000643405;RCV000643405;RCV000714112	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs747181293
Clinvar_Rec_5721	rs754679595	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000643179;RCV000643179;RCV000184914	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754679595
Clinvar_Rec_5722	rs727505234	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000642926;RCV000642926;RCV000156741	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727505234
Clinvar_Rec_5723	rs374022393	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000768882;RCV000477626;RCV000477626;RCV000733310;RCV000154906	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374022393
Clinvar_Rec_5724	rs374022393	Uncertain significance	Cardiovascular phenotype;Inborn genetic diseases;not specified	RCV000253568;RCV000624511;RCV000516316	MedGen;MedGen	CN230736;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374022393
Clinvar_Rec_5725	rs727505194	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000459342;RCV000459342;RCV000156684	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727505194
Clinvar_Rec_5726	rs1064795407	Likely pathogenic	Dilated cardiomyopathy 1G;not provided	RCV000558353;RCV000483440	MedGen;OMIM	C1858763;604145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064795407
Clinvar_Rec_5727	rs754325718	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000620567;RCV000532629;RCV000532629	MedGen;OMIM;OMIM;Orphanet	CN230736;MedGen;604145;MedGen;608807;ORPHA140922	criteria provided, multiple submitters, no conflicts	tagSNP	rs754325718
Clinvar_Rec_5728	rs200406978	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769929;RCV000310296;RCV000393917;RCV000349857;RCV000313729;RCV000400261;RCV000364729;RCV000172243;RCV000156898	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200406978
Clinvar_Rec_5729	rs200406978	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768909;RCV000366979;RCV000309776;RCV000260100;RCV000370450;RCV000274661;RCV000332173;RCV000643482;RCV000152203	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs199670463
Clinvar_Rec_5730	rs201069672	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769932;RCV000620038;RCV000473775;RCV000040661	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201069672
Clinvar_Rec_5731	rs775918922	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000459977;RCV000459977	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs775918922
Clinvar_Rec_5732	rs150682764	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000769938;RCV000172632;RCV000176834	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150682764
Clinvar_Rec_5733	rs576341346	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000552889;RCV000552889	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs576341346
Clinvar_Rec_5734	rs886038876	Uncertain significance	Cardiovascular phenotype	RCV000253832	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038876
Clinvar_Rec_5735	rs1559378965	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000689759;RCV000689759	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1559378965
Clinvar_Rec_5736	rs727504483	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Neuromuscular disease	RCV000700048;RCV000700048;RCV000155611	MedGen;OMIM;OMIM;Orphanet;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen;ORPHA68381	criteria provided, single submitter	tagSNP	rs727504483
Clinvar_Rec_5737	rs201776072	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000477603;RCV000477603;RCV000172255	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201776072
Clinvar_Rec_5738	rs919790172	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643810;RCV000643810	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs919790172
Clinvar_Rec_5739	rs767989384	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000245702;RCV000470054;RCV000396572	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767989384
Clinvar_Rec_5740	rs886055249	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy	RCV000331005;RCV000281759;RCV000334641;RCV000373930;RCV000372966;RCV000285511	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609	criteria provided, single submitter	tagSNP	rs886055249
Clinvar_Rec_5741	rs765861604	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000555610;RCV000555610	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs765861604
Clinvar_Rec_5742	rs781540455	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000554185;RCV000554185;RCV000184256;RCV001000060	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs781540455
Clinvar_Rec_5743	rs1553617378	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000541732	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs1553617378
Clinvar_Rec_5744	rs528503786	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000465375;RCV000465375;RCV000734426	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142791877
Clinvar_Rec_5745	rs727503574	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000643438;RCV000643438;RCV000152240	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503574
Clinvar_Rec_5746	rs1559493839	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000694318;RCV000694318	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1559493839
Clinvar_Rec_5747	rs761241302	Uncertain significance	Cardiovascular phenotype	RCV000242115	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs761241302
Clinvar_Rec_5748	rs372989710	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000643165;RCV000643165;RCV000729834	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372989710
Clinvar_Rec_5749	rs767001973	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000264793;RCV000304715;RCV000359505;RCV000363010;RCV000268362;RCV000308377;RCV000827619	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs767001973
Clinvar_Rec_5750	rs528707403	Uncertain significance	Cardiovascular phenotype;not provided;not specified	RCV000619601;RCV000733604;RCV000184723	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs528707403
Clinvar_Rec_5751	rs72646849	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000251314;RCV000727721;RCV000184692	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72646849
Clinvar_Rec_5752	rs72646849	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000246125;RCV000727722;RCV000184921	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs72648228
Clinvar_Rec_5753	rs72646849	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000251054;RCV000461153;RCV000425436	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648216
Clinvar_Rec_5754	rs1218971734	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000619841;RCV000560469;RCV000560469	MedGen;OMIM;OMIM;Orphanet	CN230736;MedGen;604145;MedGen;608807;ORPHA140922	criteria provided, multiple submitters, no conflicts	tagSNP	rs1218971734
Clinvar_Rec_5755	rs1553641246	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643863;RCV000643863	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553641246
Clinvar_Rec_5756	rs376455983	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000687436;RCV000687436;RCV000155829	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376455983
Clinvar_Rec_5757	rs554308191	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643396;RCV000643396	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	LD derived	rs571702144
Clinvar_Rec_5758	rs554308191	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000642944;RCV000642944;RCV000040235	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs397517572
Clinvar_Rec_5759	rs1559576730	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000706085;RCV000706085	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1559576730
Clinvar_Rec_5760	rs1114167324	Likely pathogenic	Dilated cardiomyopathy 1S	RCV000491832	MedGen;OMIM	C1834481;613426	no assertion criteria provided	tagSNP	rs1114167324
Clinvar_Rec_5761	rs377529060	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000358355;RCV000345526;RCV000265408;RCV000398857;RCV000310552;RCV000306892;RCV000557466	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377529060
Clinvar_Rec_5762	rs1060500415	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000463692;RCV000463692	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500415
Clinvar_Rec_5763	rs1459026538	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642978;RCV000642978	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1459026538
Clinvar_Rec_5764	rs397517632	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000643434;RCV000643434;RCV000040400	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517632
Clinvar_Rec_5765	rs1553655240	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642985;RCV000642985	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553655240
Clinvar_Rec_5766	rs370118111	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000552795;RCV000552795	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs370118111
Clinvar_Rec_5767	rs964263107	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000458117;RCV000458117;RCV000829220	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs964263107
Clinvar_Rec_5768	rs1044328956	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643647;RCV000643647	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1044328956
Clinvar_Rec_5769	rs201001270	Uncertain significance	Cardiovascular phenotype	RCV000619928	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs201001270
Clinvar_Rec_5770	rs766074604	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000852841;RCV000471303;RCV000216545	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs766074604
Clinvar_Rec_5771	rs374335905	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000643767;RCV000643767;RCV000727302;RCV000593379	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs374335905
Clinvar_Rec_5772	rs886038833	Uncertain significance	Cardiovascular phenotype	RCV000250927	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038833
Clinvar_Rec_5773	rs766025438	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000551502;RCV000551502	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs766025438
Clinvar_Rec_5774	rs760956511	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643760;RCV000643760	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs760956511
Clinvar_Rec_5775	rs748816848	Uncertain significance	Cardiomyopathy;not provided	RCV000769007;RCV000592056	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748816848
Clinvar_Rec_5776	rs878854312	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000231819;RCV000231819	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs878854312
Clinvar_Rec_5777	rs770419196	Uncertain significance	Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000765577;RCV000765577;RCV000765577;RCV000765577;RCV000765577;RCV000765577;RCV000500523	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1858763;604145;MedGen;613765;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs770419196
Clinvar_Rec_5778	rs202234172	Conflicting interpretations of pathogenicity	Primary dilated cardiomyopathy;not provided;not specified	RCV000209343;RCV000726093;RCV000040125	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202234172
Clinvar_Rec_5779	rs369094355	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000643366;RCV000643366;RCV000724537;RCV000154965	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369094355
Clinvar_Rec_5780	rs1060500451	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000471080;RCV000471080	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500451
Clinvar_Rec_5781	rs879046044	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000457857;RCV000457857;RCV000729956	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879046044
Clinvar_Rec_5782	rs764261158	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000541773;RCV000541773	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs764261158
Clinvar_Rec_5783	rs869312104	Likely pathogenic	Primary dilated cardiomyopathy	RCV000209552	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs869312104
Clinvar_Rec_5784	rs777055785	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000526017;RCV000526017	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs777055785
Clinvar_Rec_5785	rs1553939161	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000554544;RCV000554544;RCV000605220	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1553939161
Clinvar_Rec_5786	rs773862320	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy	RCV000327007;RCV000383969;RCV000282834;RCV000269589;RCV000371165;RCV000321505	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609	criteria provided, single submitter	tagSNP	rs773862320
Clinvar_Rec_5787	rs1002616301	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643896;RCV000643896	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1002616301
Clinvar_Rec_5788	rs397517693	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000539387;RCV000539387;RCV000727443;RCV000040585	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517693
Clinvar_Rec_5789	rs150725992	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000545067;RCV000545067;RCV000040436	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150725992
Clinvar_Rec_5790	rs786205676	Pathogenic	Kabuki syndrome 2	RCV000170468	MedGen;OMIM	C3275495;300867	no assertion criteria provided	tagSNP	rs786205676
Clinvar_Rec_5791	rs201330464	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000288551	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs201330464
Clinvar_Rec_5792	rs201169336	Likely benign	Spinal muscular atrophy, X-linked 2	RCV000640817	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145	criteria provided, single submitter	tagSNP	rs201169336
Clinvar_Rec_5793	rs600999	Benign	Non-syndromic X-linked intellectual disability	RCV000330809	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs600999
Clinvar_Rec_5794	rs600999	Benign	History of neurodevelopmental disorder;Non-syndromic X-linked intellectual disability;not specified	RCV000720933;RCV000302980;RCV000118974	MedGen;Orphanet	C2711754;MedGen;ORPHA777;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs537825
Clinvar_Rec_5795	rs600999	Benign	History of neurodevelopmental disorder;Non-syndromic X-linked intellectual disability;not specified	RCV000720946;RCV000275682;RCV000118970	MedGen;Orphanet	C2711754;MedGen;ORPHA777;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs663514
Clinvar_Rec_5796	rs600999	Benign	Non-syndromic X-linked intellectual disability	RCV000337496	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs482066
Clinvar_Rec_5797	rs600999	Benign	Non-syndromic X-linked intellectual disability	RCV000260579	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs603691
Clinvar_Rec_5798	rs781982171	Likely benign	Non-syndromic X-linked intellectual disability	RCV000385315	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs781982171
Clinvar_Rec_5799	rs1569493682	Uncertain significance	Wiskott-Aldrich syndrome;X-linked thrombocytopenia with normal platelets	RCV000686843;RCV000686843	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0043194;301000;ORPHA906;36070007;MedGen;313900;ORPHA852	criteria provided, single submitter	tagSNP	rs1569493682
Clinvar_Rec_5800	rs201489630	Uncertain significance	Renpenning syndrome 1	RCV000660228	MedGen;OMIM;Orphanet	C0796135;309500;ORPHA3242	criteria provided, single submitter	tagSNP	rs201489630
Clinvar_Rec_5801	rs797046100	Likely pathogenic	Neurodegeneration with brain iron accumulation 5	RCV000195088	MedGen;OMIM;Orphanet	C3550973;300894;ORPHA329284	criteria provided, single submitter	tagSNP	rs797046100
Clinvar_Rec_5802	rs1557194018	Pathogenic	Inborn genetic diseases	RCV000622711	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1557194018
Clinvar_Rec_5803	rs28362302	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000720967;RCV000224335;RCV000082028	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28362302
Clinvar_Rec_5804	rs1556834744	Uncertain significance	History of neurodevelopmental disorder	RCV000718701	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1556834744
Clinvar_Rec_5805	rs782062867	Likely benign	Mental retardation, X-linked 1	RCV000647980	Gene;MedGen;OMIM	170530;C2931498;309530	criteria provided, single submitter	tagSNP	rs782062867
Clinvar_Rec_5806	rs1556880144	Uncertain significance	Mental retardation, X-linked 1	RCV000527598	Gene;MedGen;OMIM	170530;C2931498;309530	criteria provided, single submitter	tagSNP	rs1556880144
Clinvar_Rec_5807	rs863225458	Pathogenic	Congenital muscular hypertrophy-cerebral syndrome;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS;not provided	RCV000202429;RCV001072124;RCV000394437	MedGen;OMIM;SNOMED CT;OMIM	C1802395;300590;55016009;MedGen;301044;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863225458
Clinvar_Rec_5808	rs797045992	Likely pathogenic	Congenital muscular hypertrophy-cerebral syndrome	RCV000193116	MedGen;OMIM;SNOMED CT	C1802395;300590;55016009	criteria provided, single submitter	tagSNP	rs797045992
Clinvar_Rec_5809	rs144354524	Conflicting interpretations of pathogenicity	Congenital muscular hypertrophy-cerebral syndrome;Cornelia de Lange Syndrome	RCV000147549;RCV000273708	MedGen;OMIM;SNOMED CT	C1802395;300590;55016009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144354524
Clinvar_Rec_5810	rs201752906	Likely benign	History of neurodevelopmental disorder	RCV000719429	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs201752906
Clinvar_Rec_5811	rs147035080	Benign	History of neurodevelopmental disorder;not specified	RCV000715560;RCV000081082	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147035080
Clinvar_Rec_5812	rs192883799	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000294537	MedGen	CN239175	criteria provided, single submitter	tagSNP	rs192883799
Clinvar_Rec_5813	rs77778467	Conflicting interpretations of pathogenicity	Joubert syndrome 1;Leber congenital amaurosis 10;not provided;not specified	RCV000988879;RCV000490488;RCV000132681;RCV000193732	MedGen;OMIM;OMIM	C4551568;213300;MedGen;611755;MedGen	criteria provided, conflicting interpretations	tagSNP	rs77778467
Clinvar_Rec_5814	rs727503853	Pathogenic	Joubert syndrome 5;not provided	RCV000201601;RCV000790777	MedGen;OMIM	C1857780;610188;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503853
Clinvar_Rec_5815	rs1226324483	Pathogenic	Leber congenital amaurosis 10	RCV000678536	MedGen;OMIM	C1857821;611755	no assertion criteria provided	tagSNP	rs1226324483
Clinvar_Rec_5816	rs886049887	Uncertain significance	Bardet-Biedl syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia	RCV000363682;RCV000402405;RCV000306707;RCV000314980;RCV000396729	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MeSH;C0339527;ORPHA65;193413001;MedGen;ORPHA564;29076005;MedGen;ORPHA3156;236531005	criteria provided, single submitter	tagSNP	rs886049887
Clinvar_Rec_5817	rs1057517697	Pathogenic	Lissencephaly 8	RCV000412534	MedGen;OMIM	C4310646;617255	no assertion criteria provided	tagSNP	rs1057517697
Clinvar_Rec_5818	rs139318648	risk factor	Hypogonadotropic hypogonadism 19 with or without anosmia	RCV000043595	MedGen;OMIM	C3808981;615269	no assertion criteria provided	tagSNP	rs139318648
Clinvar_Rec_5819	rs863223348	Likely pathogenic	Childhood-Onset Schizophrenia	RCV000202342	MedGen	C0036346	criteria provided, single submitter	tagSNP	rs863223348
Clinvar_Rec_5820	rs757121631	Likely benign	History of neurodevelopmental disorder	RCV000718332	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs757121631
Clinvar_Rec_5821	rs587776727	Pathogenic	Paroxysmal nocturnal hemoglobinuria 1	RCV000010641	MedGen;OMIM	C3806670;300818	no assertion criteria provided	tagSNP	rs587776727
Clinvar_Rec_5822	rs375401655	Uncertain significance	History of neurodevelopmental disorder;Multiple congenital anomalies-hypotonia-seizures syndrome 2;not provided	RCV000718278;RCV000694821;RCV000712539	MedGen;OMIM;Orphanet	C2711754;MedGen;300868;ORPHA300496;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375401655
Clinvar_Rec_5823	rs1323986389	Likely benign	Nance-Horan syndrome	RCV000526445	MedGen;OMIM;Orphanet;SNOMED CT	C0796085;302350;ORPHA627;445257004	criteria provided, single submitter	tagSNP	rs1323986389
Clinvar_Rec_5824	rs1481421967	Pathogenic	Nance-Horan syndrome;Syndromic intellectual disability, X-linked	RCV000498961;RCV000498961	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	C0796085;302350;ORPHA627;445257004;MedGen;ORPHA98464	criteria provided, single submitter	tagSNP	rs1481421967
Clinvar_Rec_5825	rs267608618	Likely pathogenic	West syndrome	RCV000659287	MedGen;Orphanet;SNOMED CT	C0037769;ORPHA3451;28055006	criteria provided, single submitter	tagSNP	rs267608618
Clinvar_Rec_5826	rs267608618	Pathogenic	Early infantile epileptic encephalopathy 2	RCV000133318	MedGen;OMIM;Orphanet	C4750718;300672;ORPHA505652	no assertion criteria provided	tagSNP	rs267608618
Clinvar_Rec_5827	rs762708691	Uncertain significance	Atypical Rett syndrome	RCV000170060	MedGen;Orphanet	C2748910;ORPHA3095	no assertion criteria provided	tagSNP	rs762708691
Clinvar_Rec_5828	rs587783400	Uncertain significance	Early infantile epileptic encephalopathy 2	RCV000145522	MedGen;OMIM;Orphanet	C4750718;300672;ORPHA505652	criteria provided, single submitter	tagSNP	rs587783400
Clinvar_Rec_5829	rs786204975	Pathogenic	Atypical Rett syndrome	RCV000170014	MedGen;Orphanet	C2748910;ORPHA3095	no assertion criteria provided	tagSNP	rs786204975
Clinvar_Rec_5830	rs1555955290	Pathogenic	Early infantile epileptic encephalopathy 2	RCV000578482	MedGen;OMIM;Orphanet	C4750718;300672;ORPHA505652	no assertion criteria provided	tagSNP	rs1555955290
Clinvar_Rec_5831	rs137852293	Likely pathogenic	Glycogen storage disease IXa2;Glycogen storage disease type IXa1	RCV000011279;RCV000548701	MedGen;OMIM	C2748941;MedGen;306000	criteria provided, single submitter	tagSNP	rs137852293
Clinvar_Rec_5832	rs1569190962	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	RCV000679874	MedGen;OMIM;Orphanet	C1839413;312170;ORPHA79243	criteria provided, single submitter	tagSNP	rs1569190962
Clinvar_Rec_5833	rs1555928716	Pathogenic	Delayed speech and language development;Dolichocephaly;Global developmental delay;Macrocephalus;Motor delay;Muscular hypotonia;Thick vermilion border	RCV000626867;RCV000626867;RCV000626867;RCV000626867;RCV000626867;RCV000626867;RCV000626867	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0454644;Human Phenotype Ontology;C0221358;Human Phenotype Ontology;C0557874;Human Phenotype Ontology;C2243051;Human Phenotype Ontology;C1854301;Human Phenotype Ontology;C0026827;Human Phenotype Ontology;C1836543	criteria provided, single submitter	tagSNP	rs1555928716
Clinvar_Rec_5834	rs114337467	Benign	History of neurodevelopmental disorder;not provided	RCV000716480;RCV000872617	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114337467
Clinvar_Rec_5835	rs1555912049	Pathogenic	Inborn genetic diseases	RCV000624369	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555912049
Clinvar_Rec_5836	rs762133513	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000719789;RCV000916130	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs762133513
Clinvar_Rec_5837	rs779869307	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000323102	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs779869307
Clinvar_Rec_5838	rs779869307	Benign	Non-syndromic X-linked intellectual disability	RCV000267990	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs779869307
Clinvar_Rec_5839	rs779869307	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000357791	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs779869307
Clinvar_Rec_5840	rs139798306	Likely benign	Hereditary cancer-predisposing syndrome	RCV000209064	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	no assertion criteria provided	LD derived	rs143487178
Clinvar_Rec_5841	rs548574836	Likely benign	Hereditary cancer-predisposing syndrome	RCV000209034	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	no assertion criteria provided	LD derived	rs188084183
Clinvar_Rec_5842	rs753516000	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000690085;RCV000690085;RCV000775404	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs753516000
Clinvar_Rec_5843	rs1060501771	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000477091;RCV000477091	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1060501771
Clinvar_Rec_5844	rs1060501734	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000468361;RCV000468361;RCV000574401	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501734
Clinvar_Rec_5845	rs781140410	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000230422;RCV000230422;RCV000773241	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs781140410
Clinvar_Rec_5846	rs748310432	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000214446;RCV000941438	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748310432
Clinvar_Rec_5847	rs778805688	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167303	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs778805688
Clinvar_Rec_5848	rs760589795	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000689972;RCV000689972;RCV000678993;RCV000487009	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760589795
Clinvar_Rec_5849	rs760589795	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000540096;RCV000540096	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs760589795
Clinvar_Rec_5850	rs372799558	Uncertain significance	Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group J;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not specified	RCV000525915;RCV000989975;RCV000525915;RCV000709524;RCV001020519;RCV000780067	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;114480;ORPHA227535;254843006;MedGen;609054;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372799558
Clinvar_Rec_5851	rs786202662	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000165581	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202662
Clinvar_Rec_5852	rs587782552	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000706879;RCV000706879;RCV001030463;RCV000131766	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782552
Clinvar_Rec_5853	rs375741316	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000205088;RCV000205088;RCV000216628;RCV000255184	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375741316
Clinvar_Rec_5854	rs587782029	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000473664;RCV000473664;RCV001030464;RCV000130477	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782029
Clinvar_Rec_5855	rs1259866317	Likely benign	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000549774;RCV000549774	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1259866317
Clinvar_Rec_5856	rs1555572626	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000636184;RCV000636184;RCV000579866	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555572626
Clinvar_Rec_5857	rs369340444	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581029	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs369340444
Clinvar_Rec_5858	rs754056526	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000811671;RCV000811671;RCV001020106;RCV000679784;RCV000478257	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754056526
Clinvar_Rec_5859	rs1419933310	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000530731;RCV000530731	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1419933310
Clinvar_Rec_5860	rs1419933310	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000636178;RCV000636178;RCV000562325	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1419933310
Clinvar_Rec_5861	rs1567728281	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000688353;RCV000688353	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1567728281
Clinvar_Rec_5862	rs1555572700	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636088;RCV000636088	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555572700
Clinvar_Rec_5863	rs748140041	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000554552;RCV000554552	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs748140041
Clinvar_Rec_5864	rs776129117	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000540633;RCV000540633	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs776129117
Clinvar_Rec_5865	rs1555572732	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580917	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555572732
Clinvar_Rec_5866	rs786204068	Uncertain significance	Familial cancer of breast;not provided	RCV000167953;RCV000587674	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204068
Clinvar_Rec_5867	rs756074244	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775408	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756074244
Clinvar_Rec_5868	rs1400975728	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564229	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1400975728
Clinvar_Rec_5869	rs1555572806	Likely benign	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636215;RCV000636215	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555572806
Clinvar_Rec_5870	rs1555572824	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000550332;RCV000550332;RCV000563297	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555572824
Clinvar_Rec_5871	rs876659119	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217140	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659119
Clinvar_Rec_5872	rs1187782159	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000688959;RCV000688959;RCV000570681	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1187782159
Clinvar_Rec_5873	rs763162379	Conflicting interpretations of pathogenicity	Familial cancer of breast;Fanconi anemia, complementation group J;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;Neoplasm of ovary;not provided	RCV000636160;RCV000412033;RCV000636160;RCV000164450;RCV000409520;RCV000520126	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;609054;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0919267;167000;123843001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763162379
Clinvar_Rec_5874	rs1060504319	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000571733;RCV000466184	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504319
Clinvar_Rec_5875	rs778500245	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001018467;RCV000976341;RCV000424870	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs778500245
Clinvar_Rec_5876	rs786201171	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162828;RCV000869632;RCV000441108	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201171
Clinvar_Rec_5877	rs751823379	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	RCV000196991;RCV000162641;RCV000418152	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751823379
Clinvar_Rec_5878	rs546083449	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215027	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs546083449
Clinvar_Rec_5879	rs1567731150	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV001054230;RCV001054230;RCV000773825	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567731150
Clinvar_Rec_5880	rs786203633	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000167030;RCV000427360	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203633
Clinvar_Rec_5881	rs863224802	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000195543;RCV000195543;RCV000775411	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224802
Clinvar_Rec_5882	rs1567731807	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773816	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567731807
Clinvar_Rec_5883	rs754224663	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571380	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs754224663
Clinvar_Rec_5884	rs1555573507	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636111;RCV000636111	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555573507
Clinvar_Rec_5885	rs774939280	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001015658;RCV000458540	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774939280
Clinvar_Rec_5886	rs760127237	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000541763;RCV000541763;RCV000582319;RCV000587241	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760127237
Clinvar_Rec_5887	rs1060501749	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000461047;RCV000461047	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1060501749
Clinvar_Rec_5888	rs876659321	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000560732;RCV000560732;RCV000217753	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659321
Clinvar_Rec_5889	rs786202415	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000165215	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202415
Clinvar_Rec_5890	rs1315040357	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000570082	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1315040357
Clinvar_Rec_5891	rs1555607173	Likely benign	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636212;RCV000636212	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555607173
Clinvar_Rec_5892	rs764711572	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000196847;RCV000196847;RCV000215891;RCV000219685	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764711572
Clinvar_Rec_5893	rs1567829526	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000686333;RCV000686333	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1567829526
Clinvar_Rec_5894	rs1304655615	Pathogenic	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000690639;RCV000690639	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1304655615
Clinvar_Rec_5895	rs770306753	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000636067;RCV000636067;RCV000575286	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs770306753
Clinvar_Rec_5896	rs139701369	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000166600;RCV000758983;RCV000506580	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139701369
Clinvar_Rec_5897	rs1567831649	Pathogenic	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000684898;RCV000684898	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1567831649
Clinvar_Rec_5898	rs761017296	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000162831;RCV000228755	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761017296
Clinvar_Rec_5899	rs755796609	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000462189;RCV000462189;RCV000563667	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs755796609
Clinvar_Rec_5900	rs746599076	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000636175;RCV000636175;RCV000573698;RCV000319358	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746599076
Clinvar_Rec_5901	rs62620988	Conflicting interpretations of pathogenicity	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided	RCV000527670;RCV000527670;RCV000130310;RCV000588437	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs62620988
Clinvar_Rec_5902	rs1057522393	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000564737;RCV000636220;RCV000437456	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522393
Clinvar_Rec_5903	rs1555609275	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000550168;RCV000550168;RCV000568986	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555609275
Clinvar_Rec_5904	rs1555609275	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777113	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555609275
Clinvar_Rec_5905	rs876660769	Pathogenic	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000804472;RCV000804472;RCV000217247	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660769
Clinvar_Rec_5906	rs1429063662	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572207	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1429063662
Clinvar_Rec_5907	rs1567866683	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777071	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567866683
Clinvar_Rec_5908	rs534248303	Uncertain significance	Mitochondrial complex IV deficiency	RCV000270979	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs534248303
Clinvar_Rec_5909	rs1567815577	Uncertain significance	Hyperkalemic Periodic Paralysis Type 1	RCV000687463	MedGen;OMIM	CN074266;170500	criteria provided, single submitter	tagSNP	rs1567815577
Clinvar_Rec_5910	rs2227906	Benign	Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome, acetazolamide-responsive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita of von Eulenburg;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;Potassium aggravated myotonia;not specified	RCV000284488;RCV000576495;RCV000341879;RCV000576495;RCV000329283;RCV000576495;RCV000376856;RCV000576495;RCV000290512;RCV000576495;RCV000118276	MedGen;OMIM;OMIM;Orphanet;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;614198;MedGen;170500;MedGen;ORPHA681;MedGen;613345;MedGen;168300;ORPHA684;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735;MedGen;608390;ORPHA99735;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2227906
Clinvar_Rec_5911	rs1064794243	Conflicting interpretations of pathogenicity	Hyperkalemic Periodic Paralysis Type 1;not provided	RCV000654650;RCV000484046	MedGen;OMIM	CN074266;170500;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1064794243
Clinvar_Rec_5912	rs1567816038	Uncertain significance	Hyperkalemic Periodic Paralysis Type 1	RCV000703442	MedGen;OMIM	CN074266;170500	criteria provided, single submitter	tagSNP	rs1567816038
Clinvar_Rec_5913	rs202106192	Conflicting interpretations of pathogenicity	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	RCV000331539;RCV000307084;RCV000356751;RCV000371033;RCV000276428;RCV000713115;RCV000192652	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202106192
Clinvar_Rec_5914	rs370683331	Uncertain significance	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	RCV000314651	MedGen	CN239267	criteria provided, single submitter	tagSNP	rs370683331
Clinvar_Rec_5915	rs1230715098	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000640179	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1230715098
Clinvar_Rec_5916	rs1060502147	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000456196	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1060502147
Clinvar_Rec_5917	rs1555583178	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000640166	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1555583178
Clinvar_Rec_5918	rs377293563	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000640176	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs377293563
Clinvar_Rec_5919	rs1060502149	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000476641	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502149
Clinvar_Rec_5920	rs1060502152	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000457030	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502152
Clinvar_Rec_5921	rs776333136	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000459854	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs776333136
Clinvar_Rec_5922	rs1555583319	Likely benign	Hereditary cancer-predisposing syndrome;Oligodontia-colorectal cancer syndrome	RCV001025255;RCV000557385	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608615;ORPHA300576	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555583319
Clinvar_Rec_5923	rs1419378216	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000706547	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1419378216
Clinvar_Rec_5924	rs762082964	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000543478	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs762082964
Clinvar_Rec_5925	rs878854731	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000230319	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs878854731
Clinvar_Rec_5926	rs1443332884	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000697669	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1443332884
Clinvar_Rec_5927	rs111470596	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001022350;RCV000473590;RCV000437295	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111470596
Clinvar_Rec_5928	rs2240307	Benign	Hereditary cancer-predisposing syndrome;Oligodontia-colorectal cancer syndrome;not provided;not specified	RCV001022306;RCV000322313;RCV000588336;RCV000242896	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608615;ORPHA300576;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2240307
Clinvar_Rec_5929	rs1176996295	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000548340	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1176996295
Clinvar_Rec_5930	rs1555583566	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000559537	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1555583566
Clinvar_Rec_5931	rs1064792955	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000468818	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1064792955
Clinvar_Rec_5932	rs373435521	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000541466	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs373435521
Clinvar_Rec_5933	rs1555583721	Uncertain significance	Oligodontia-colorectal cancer syndrome	RCV000640233	MedGen;OMIM;Orphanet	C1837750;608615;ORPHA300576	criteria provided, single submitter	tagSNP	rs1555583721
Clinvar_Rec_5934	rs782736894	Pathogenic/Likely pathogenic	Expressive language delay;Global developmental delay;NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES;Postnatal microcephaly	RCV000577896;RCV000577896;RCV000515238;RCV000577896	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;MedGen	HP;C0454641;Human Phenotype Ontology;C0557874;MedGen;617755;ORPHA528084;Human Phenotype Ontology;C0431352	no assertion criteria provided	tagSNP	rs782736894
Clinvar_Rec_5935	rs1568445893	Pathogenic	Usher syndrome	RCV001002872	MeSH;MedGen;Orphanet	D052245;C0271097;ORPHA886	no assertion criteria provided	tagSNP	rs1568445893
Clinvar_Rec_5936	rs759197325	Uncertain significance	Carney complex, type 1	RCV000556071	MedGen;OMIM	C2607929;160980	criteria provided, single submitter	tagSNP	rs759197325
Clinvar_Rec_5937	rs751501857	Conflicting interpretations of pathogenicity	Carney complex, type 1;not specified	RCV000645592;RCV000608026	MedGen;OMIM	C2607929;160980;MedGen	criteria provided, conflicting interpretations	tagSNP	rs751501857
Clinvar_Rec_5938	rs878884422	Likely benign	Carney complex, type 1	RCV000645608	MedGen;OMIM	C2607929;160980	criteria provided, single submitter	tagSNP	rs878884422
Clinvar_Rec_5939	rs1255519868	Uncertain significance	Carney complex, type 1	RCV000542202	MedGen;OMIM	C2607929;160980	criteria provided, single submitter	tagSNP	rs1255519868
Clinvar_Rec_5940	rs201146882	Likely benign	Acrodysostosis;Carney complex	RCV000325186;RCV000270191	MedGen;Orphanet;SNOMED CT;Orphanet	C0220659;ORPHA950;66758006;MedGen;ORPHA1359	criteria provided, single submitter	tagSNP	rs201146882
Clinvar_Rec_5941	rs146689929	Benign/Likely benign	Acrodysostosis;Carney complex;not provided	RCV000331981;RCV000370244;RCV000887096	MedGen;Orphanet;SNOMED CT;Orphanet	C0220659;ORPHA950;66758006;MedGen;ORPHA1359;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146689929
Clinvar_Rec_5942	rs146689929	Benign/Likely benign	Acrodysostosis;Carney complex;Hereditary cancer-predisposing syndrome;not provided	RCV000283920;RCV000376144;RCV000561785;RCV000466868	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT	C0220659;ORPHA950;66758006;MedGen;ORPHA1359;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74863634
Clinvar_Rec_5943	rs199473369	Likely pathogenic	Congenital long QT syndrome;not provided	RCV000058297;RCV000413768	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000;MedGen	criteria provided, single submitter	tagSNP	rs199473369
Clinvar_Rec_5944	rs199473369	Conflicting interpretations of pathogenicity	Andersen Tawil syndrome;Andersen Tawil syndrome;Short QT syndrome 3	RCV000208360;RCV001067168;RCV001067168	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	C1563715;170390;ORPHA37553;422348008;MedGen;170390;ORPHA37553;422348008;MedGen;609622	criteria provided, conflicting interpretations	tagSNP	rs199473369
Clinvar_Rec_5945	rs104894575	Pathogenic	Andersen Tawil syndrome;Congenital long QT syndrome	RCV000009473;RCV000058298	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1563715;170390;ORPHA37553;422348008;MedGen;ORPHA768;442917000	no assertion criteria provided	tagSNP	rs104894575
Clinvar_Rec_5946	rs150671256	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000248933;RCV000862112;RCV000426232	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150671256
Clinvar_Rec_5947	rs150671256	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000253689;RCV000862113;RCV000126418	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139564374
Clinvar_Rec_5948	rs199473372	not provided	Congenital long QT syndrome	RCV000058303	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473372
Clinvar_Rec_5949	rs199473371	Pathogenic	Andersen Tawil syndrome;Congenital long QT syndrome	RCV000157272;RCV000058304	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1563715;170390;ORPHA37553;422348008;MedGen;ORPHA768;442917000	no assertion criteria provided	tagSNP	rs199473371
Clinvar_Rec_5950	rs542690264	Likely benign	Camptomelic dysplasia	RCV000399447	MedGen;OMIM;Orphanet;SNOMED CT	C1861922;114290;ORPHA140;74928006	criteria provided, single submitter	tagSNP	rs542690264
Clinvar_Rec_5951	rs193920973	Uncertain significance	Malignant tumor of prostate	RCV000149259	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920973
Clinvar_Rec_5952	rs139440017	Uncertain significance	COG1 congenital disorder of glycosylation;not provided	RCV001046057;RCV000514967	MedGen;OMIM;Orphanet;SNOMED CT	C1970016;611209;ORPHA263508;718750004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139440017
Clinvar_Rec_5953	rs745143	Benign	Congenital disorder of glycosylation	RCV000310547	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs3764359
Clinvar_Rec_5954	rs745143	Benign	Congenital disorder of glycosylation;not provided;not specified	RCV000360182;RCV000835503;RCV000081960	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1026128
Clinvar_Rec_5955	rs745143	Benign	Congenital disorder of glycosylation;not specified	RCV000389631;RCV000081963	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1037256
Clinvar_Rec_5956	rs745142	Benign	Congenital disorder of glycosylation	RCV000310547	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs3764359
Clinvar_Rec_5957	rs745142	Benign	Congenital disorder of glycosylation;not provided;not specified	RCV000360182;RCV000835503;RCV000081960	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1026128
Clinvar_Rec_5958	rs745142	Benign	Congenital disorder of glycosylation;not specified	RCV000389631;RCV000081963	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1037256
Clinvar_Rec_5959	rs558387826	Conflicting interpretations of pathogenicity	Amish lethal microcephaly;not specified	RCV000299698;RCV000607404	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742;MedGen	criteria provided, conflicting interpretations	LD derived	rs535476833
Clinvar_Rec_5960	rs569032124	Conflicting interpretations of pathogenicity	Retinitis pigmentosa-deafness syndrome;not specified	RCV000309496;RCV000155744	MedGen;OMIM;SNOMED CT	CN033130;500004;57838006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs569032124
Clinvar_Rec_5961	rs766257867	Conflicting interpretations of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	RCV000679928	MedGen;OMIM;Orphanet	C1834569;159950;ORPHA2590	criteria provided, conflicting interpretations	tagSNP	rs766257867
Clinvar_Rec_5962	rs886062792	Uncertain significance	Hyperlipoproteinemia, type I	RCV000351257	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0023817;238600;ORPHA309015;238086005;275598004	criteria provided, single submitter	tagSNP	rs886062792
Clinvar_Rec_5963	rs3208305	Benign	Hyperlipoproteinemia, type I	RCV000300463	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0023817;238600;ORPHA309015;238086005;275598004	criteria provided, single submitter	tagSNP	rs3208305
Clinvar_Rec_5964	rs13702	Benign	High density lipoprotein cholesterol level quantitative trait locus 11;Hyperlipoproteinemia, type I	RCV000033176;RCV000353989	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C1969232;MedGen;238600;ORPHA309015;238086005;275598004	criteria provided, single submitter	tagSNP	rs13702
Clinvar_Rec_5965	rs151036296	Uncertain significance	Alopecia universalis;Atrichia with papular lesions	RCV000408135;RCV000349219	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0263505;ORPHA701;86166000;MedGen;209500;ORPHA86819	criteria provided, single submitter	tagSNP	rs151036296
Clinvar_Rec_5966	rs12675375	Benign	Alopecia universalis;Atrichia with papular lesions	RCV000268622;RCV000360940	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0263505;ORPHA701;86166000;MedGen;209500;ORPHA86819	criteria provided, single submitter	tagSNP	rs12675375
Clinvar_Rec_5967	rs750281602	Pathogenic	Hypermanganesemia with dystonia 2	RCV000234922	MedGen;OMIM;Orphanet	C4310765;617013;ORPHA521406	no assertion criteria provided	tagSNP	rs750281602
Clinvar_Rec_5968	rs886062830	Uncertain significance	Charcot-Marie-Tooth disease, type I	RCV000399540	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	tagSNP	rs886062830
Clinvar_Rec_5969	rs1045761358	Uncertain significance	Charcot-Marie-Tooth disease type 2E	RCV000640662	MedGen;OMIM;Orphanet	C1843225;607684;ORPHA99939	criteria provided, single submitter	tagSNP	rs1045761358
Clinvar_Rec_5970	rs368617865	Likely benign	Nocturnal frontal lobe epilepsy	RCV000266069	MedGen	C4313718	criteria provided, single submitter	LD derived	rs377169301
Clinvar_Rec_5971	rs80359851	Pathogenic	Roberts-SC phocomelia syndrome	RCV000020408	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C0392475;268300;269000;ORPHA3103;48718006	no assertion criteria provided	tagSNP	rs80359851
Clinvar_Rec_5972	rs121918245	Pathogenic	Senior-Loken syndrome 5	RCV000001908	MedGen;OMIM	C1836517;609254	no assertion criteria provided	tagSNP	rs121918245
Clinvar_Rec_5973	rs1474058708	Pathogenic	Nephronophthisis;Senior-Loken syndrome 5	RCV001050356;RCV000001907	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0687120;ORPHA655;204958008;MedGen;609254	criteria provided, single submitter	tagSNP	rs1474058708
Clinvar_Rec_5974	rs193922442	Likely pathogenic	Familial hypocalciuric hypercalcemia	RCV000029453	MedGen;Orphanet;SNOMED CT	C1809471;ORPHA405;190868007	criteria provided, single submitter	tagSNP	rs193922442
Clinvar_Rec_5975	rs104893689	Pathogenic	Familial hypocalciuric hypercalcemia;Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;Neonatal severe hyperparathyroidism;not provided	RCV000627760;RCV000627760;RCV000008813;RCV000008814;RCV000412784	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C1809471;ORPHA405;190868007;MedGen;601198;MedGen;145980;ORPHA93372;190868007;MedGen;239200;ORPHA417;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104893689
Clinvar_Rec_5976	rs137887894	Uncertain significance	Familial hypocalciuric hypercalcemia;Hypocalcemia, autosomal dominant 1	RCV000476640;RCV000476640	MedGen;Orphanet;SNOMED CT;OMIM	C1809471;ORPHA405;190868007;MedGen;601198	criteria provided, single submitter	LD derived	rs202179597
Clinvar_Rec_5977	rs557103643	Likely benign	Inborn genetic diseases;not provided	RCV001017375;RCV000639480	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs539867627
Clinvar_Rec_5978	rs863223384	Benign	Abnormality of neuronal migration	RCV000201347	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs863223384
Clinvar_Rec_5979	rs186733108	Likely benign	Familial hypocalciuric hypercalcemia;Familial isolated hypoparathyroidism;Hypocalcemia;Inborn genetic diseases;Neonatal severe hyperparathyroidism;not provided	RCV000259904;RCV000380231;RCV000317362;RCV001012964;RCV000323277;RCV000227311	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;MedGen;OMIM;Orphanet	C1809471;ORPHA405;190868007;MedGen;146200;ORPHA2238;Human Phenotype Ontology;C0020598;MeSH;C0950123;MedGen;239200;ORPHA417;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138638329
Clinvar_Rec_5980	rs35930843	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000342459	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs35930843
Clinvar_Rec_5981	rs879035240	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000303906	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs879035240
Clinvar_Rec_5982	rs200287208	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 7	RCV000692869	MedGen;OMIM	C3151077;613780	criteria provided, conflicting interpretations	LD derived	rs202218458
Clinvar_Rec_5983	rs1060502538	Uncertain significance	Aortic aneurysm, familial thoracic 7	RCV000468542	MedGen;OMIM	C3151077;613780	criteria provided, single submitter	tagSNP	rs1060502538
Clinvar_Rec_5984	rs4678047	Benign/Likely benign	Aortic aneurysm, familial thoracic 7;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000601909;RCV000619086;RCV000269693;RCV000215397	MedGen;OMIM;Orphanet	C3151077;613780;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4678047
Clinvar_Rec_5985	rs757891156	Uncertain significance	Aortic aneurysm, familial thoracic 7	RCV000648732	MedGen;OMIM	C3151077;613780	criteria provided, single submitter	tagSNP	rs757891156
Clinvar_Rec_5986	rs368095613	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000370204	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs368095613
Clinvar_Rec_5987	rs886057865	Uncertain significance	Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection	RCV001067042;RCV000273352	MedGen;OMIM;Orphanet	C3151077;613780;MedGen;ORPHA91387	criteria provided, multiple submitters, no conflicts	tagSNP	rs886057865
Clinvar_Rec_5988	rs1801019	drug response	Orotic aciduria;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;leucovorin response - Toxicity/ADR;not provided;not specified;tegafur response - Toxicity/ADR	RCV000306897;RCV000211228;RCV000211351;RCV000211405;RCV000086510;RCV000247148;RCV000211224	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009;MedGen	reviewed by expert panel	tagSNP	rs1801019
Clinvar_Rec_5989	rs1801019	Benign	Orotic aciduria;not specified	RCV000281908;RCV000242374	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs13146
Clinvar_Rec_5990	rs1801019	Benign	Orotic aciduria	RCV000344097	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs2242247
Clinvar_Rec_5991	rs1801019	Benign	Orotic aciduria	RCV000260820	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs2242248
Clinvar_Rec_5992	rs1801019	Benign	Orotic aciduria	RCV000295287	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs4677940
Clinvar_Rec_5993	rs1801019	Benign	Orotic aciduria	RCV000273851	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs10631393
Clinvar_Rec_5994	rs1801019	Benign	Orotic aciduria	RCV000331307	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979411
Clinvar_Rec_5995	rs1801019	Benign	Orotic aciduria	RCV000369408	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979412
Clinvar_Rec_5996	rs1801019	Benign	Orotic aciduria	RCV000320943	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979413
Clinvar_Rec_5997	rs1801019	Benign	Orotic aciduria	RCV000377788	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs11443775
Clinvar_Rec_5998	rs1801019	Benign	Orotic aciduria	RCV000322518	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs77082052
Clinvar_Rec_5999	rs2675	drug response	Orotic aciduria;capecitabine response - Toxicity/ADR;fluorouracil response - Toxicity/ADR;leucovorin response - Toxicity/ADR;not provided;not specified;tegafur response - Toxicity/ADR	RCV000306897;RCV000211228;RCV000211351;RCV000211405;RCV000086510;RCV000247148;RCV000211224	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009;MedGen	reviewed by expert panel	LD derived	rs1801019
Clinvar_Rec_6000	rs2675	Benign	Orotic aciduria;not specified	RCV000281908;RCV000242374	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs13146
Clinvar_Rec_6001	rs2675	Benign	Orotic aciduria	RCV000344097	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs2242247
Clinvar_Rec_6002	rs2675	Benign	Orotic aciduria	RCV000260820	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs2242248
Clinvar_Rec_6003	rs2675	Benign	Orotic aciduria	RCV000295287	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs4677940
Clinvar_Rec_6004	rs2675	Benign	Orotic aciduria	RCV000273851	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs10631393
Clinvar_Rec_6005	rs2675	Benign	Orotic aciduria	RCV000331307	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979411
Clinvar_Rec_6006	rs2675	Benign	Orotic aciduria	RCV000369408	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979412
Clinvar_Rec_6007	rs2675	Benign	Orotic aciduria	RCV000320943	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs1979413
Clinvar_Rec_6008	rs2675	Benign	Orotic aciduria	RCV000377788	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs11443775
Clinvar_Rec_6009	rs2675	Benign	Orotic aciduria	RCV000322518	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	LD derived	rs77082052
Clinvar_Rec_6010	rs753159607	Uncertain significance	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia	RCV000534788;RCV000534788	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280030;614172;ORPHA228423;MedGen;614038;ORPHA3226	criteria provided, single submitter	tagSNP	rs753159607
Clinvar_Rec_6011	rs1559986940	Uncertain significance	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia	RCV000686517;RCV000686517	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280030;614172;ORPHA228423;MedGen;614038;ORPHA3226	criteria provided, single submitter	tagSNP	rs1559986940
Clinvar_Rec_6012	rs375298899	Uncertain significance	Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia	RCV000463273;RCV000463273	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280030;614172;ORPHA228423;MedGen;614038;ORPHA3226	criteria provided, single submitter	tagSNP	rs375298899
Clinvar_Rec_6013	rs141622970	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000330009	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs141622970
Clinvar_Rec_6014	rs1559982055	Pathogenic	Familial benign pemphigus	RCV000005927	MedGen;OMIM;Orphanet;SNOMED CT	C0085106;169600;ORPHA2841;79468000	no assertion criteria provided	tagSNP	rs1559982055
Clinvar_Rec_6015	rs140058289	Likely benign	Familial benign pemphigus	RCV000396533	MedGen;OMIM;Orphanet;SNOMED CT	C0085106;169600;ORPHA2841;79468000	criteria provided, single submitter	LD derived	rs200037424
Clinvar_Rec_6016	rs1555358445	Uncertain significance	Fanconi anemia	RCV000630832	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1555358445
Clinvar_Rec_6017	rs1227473930	Uncertain significance	Fanconi anemia	RCV000535465	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1227473930
Clinvar_Rec_6018	rs61753893	Conflicting interpretations of pathogenicity	Fanconi anemia;not specified	RCV000227373;RCV000246701	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61753893
Clinvar_Rec_6019	rs1555364640	Uncertain significance	Fanconi anemia	RCV000531508	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1555364640
Clinvar_Rec_6020	rs61746943	Benign/Likely benign	Fanconi anemia;not specified	RCV000233839;RCV000203014	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61746943
Clinvar_Rec_6021	rs886050503	Uncertain significance	Fanconi anemia	RCV000310996	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs886050503
Clinvar_Rec_6022	rs141299381	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000304212;RCV000858240;RCV000249711	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140998495
Clinvar_Rec_6023	rs141299381	Benign/Likely benign	Fanconi anemia;not provided;not specified	RCV000358692;RCV000858241;RCV000252772	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148871932
Clinvar_Rec_6024	rs34947556	Benign/Likely benign	Primary ciliary dyskinesia;not provided;not specified	RCV000204122;RCV000858277;RCV000245254	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74050429
Clinvar_Rec_6025	rs34947556	Benign/Likely benign	Primary ciliary dyskinesia;not provided;not specified	RCV000206363;RCV000858278;RCV000253543	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7156297
Clinvar_Rec_6026	rs76888005	Likely benign	Primary ciliary dyskinesia	RCV000536014	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs116185352
Clinvar_Rec_6027	rs76888005	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000384118;RCV000857955;RCV000214391	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	LD derived	rs116185352
Clinvar_Rec_6028	rs1327830771	Uncertain significance	Congenital disorder of glycosylation, type IIa	RCV000785908	MedGen;OMIM;Orphanet	C2931008;212066;ORPHA79329	criteria provided, single submitter	tagSNP	rs1327830771
Clinvar_Rec_6029	rs1555327096	Uncertain significance	Congenital disorder of glycosylation, type IIa	RCV000636242	MedGen;OMIM;Orphanet	C2931008;212066;ORPHA79329	criteria provided, single submitter	tagSNP	rs1555327096
Clinvar_Rec_6030	rs1566505013	Pathogenic	Congenital disorder of glycosylation, type IIa	RCV000754824	MedGen;OMIM;Orphanet	C2931008;212066;ORPHA79329	no assertion criteria provided	tagSNP	rs1566505013
Clinvar_Rec_6031	rs1455410429	Uncertain significance	Congenital disorder of glycosylation, type IIa	RCV000689519	MedGen;OMIM;Orphanet	C2931008;212066;ORPHA79329	criteria provided, single submitter	tagSNP	rs1455410429
Clinvar_Rec_6032	rs78391102	Uncertain significance	Congenital disorder of glycosylation	RCV000343016	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs78391102
Clinvar_Rec_6033	rs563513161	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not specified	RCV000406511;RCV000607723	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs563513161
Clinvar_Rec_6034	rs547924178	Uncertain significance	Primary ciliary dyskinesia	RCV000551204	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs547924178
Clinvar_Rec_6035	rs2985687	Benign	Ciliary dyskinesia, primary, 10;Primary ciliary dyskinesia;not provided;not specified	RCV000610793;RCV000259730;RCV000860183;RCV000081940	MedGen;OMIM;MedGen;Orphanet	C2675867;612518;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2985687
Clinvar_Rec_6036	rs150737854	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000204061;RCV000857460;RCV000253232	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150737854
Clinvar_Rec_6037	rs371126037	Uncertain significance	Primary ciliary dyskinesia	RCV000379966	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs371126037
Clinvar_Rec_6038	rs1416652175	Uncertain significance	Primary ciliary dyskinesia	RCV000688429	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1416652175
Clinvar_Rec_6039	rs116185352	Likely benign	Primary ciliary dyskinesia	RCV000536014	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs116185352
Clinvar_Rec_6040	rs116185352	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000384118;RCV000857955;RCV000214391	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs116185352
Clinvar_Rec_6041	rs1566513874	Uncertain significance	Primary ciliary dyskinesia	RCV000704008	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1566513874
Clinvar_Rec_6042	rs572322476	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not specified	RCV000792505;RCV000253494	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs572322476
Clinvar_Rec_6043	rs72681869	Benign/Likely benign	Noonan syndrome 9;not provided;not specified	RCV000989216;RCV000513780;RCV000613515	MedGen;OMIM	C4225282;616559;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72681869
Clinvar_Rec_6044	rs187464517	Likely benign	Seckel syndrome 7;not provided	RCV000030829;RCV000887461	MedGen;OMIM;Orphanet	C3553870;614851;ORPHA319675;MedGen	criteria provided, single submitter	tagSNP	rs187464517
Clinvar_Rec_6045	rs12882191	Benign	Seckel syndrome 7;not specified	RCV000989222;RCV000315910	MedGen;OMIM;Orphanet	C3553870;614851;ORPHA319675;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12882191
Clinvar_Rec_6046	rs2075643	Benign	Glycogen storage disease, type VI;not provided;not specified	RCV000391914;RCV000675367;RCV000244397	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017925;232700;ORPHA369;237971004;29291001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2075643
Clinvar_Rec_6047	rs17123244	Benign/Likely benign	Glycogen storage disease, type VI;not provided;not specified	RCV000386035;RCV000675375;RCV000245225	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017925;232700;ORPHA369;237971004;29291001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17123244
Clinvar_Rec_6048	rs538311514	Uncertain significance	Glycogen storage disease, type VI	RCV000294119	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017925;232700;ORPHA369;237971004;29291001	criteria provided, single submitter	tagSNP	rs538311514
Clinvar_Rec_6049	rs1566579495	Uncertain significance	Low bone mineral density;Tooth agenesis	RCV000681619;RCV000681619	na;MedGen	CN169366	no assertion criteria provided	tagSNP	rs1566579495
Clinvar_Rec_6050	rs121912767	Likely benign	Orofacial cleft 11;not provided	RCV000019277;RCV000887444	MedGen;OMIM	C2677434;600625;MedGen	criteria provided, single submitter	tagSNP	rs121912767
Clinvar_Rec_6051	rs150982073	Conflicting interpretations of pathogenicity	Anophthalmia-microphthalmia syndrome;not provided	RCV000536545;RCV000338364	MedGen;Orphanet	CN120488;ORPHA98555;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150982073
Clinvar_Rec_6052	rs1280549921	Uncertain significance	Herpes simplex encephalitis 1;Herpes simplex encephalitis 2	RCV000691555;RCV000589410	MedGen;OMIM;OMIM	C2750180;610551;MedGen;613002	criteria provided, single submitter	tagSNP	rs1280549921
Clinvar_Rec_6053	rs192436436	Uncertain significance	Bietti crystalline corneoretinal dystrophy;Corneal Dystrophy, Recessive	RCV000319706;RCV000262151	MedGen;OMIM;Orphanet	C1859486;210370;ORPHA41751;MedGen	criteria provided, single submitter	LD derived	rs541778964
Clinvar_Rec_6054	rs886048026	Uncertain significance	Deficiency of isobutyryl-CoA dehydrogenase	RCV000389938	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	tagSNP	rs886048026
Clinvar_Rec_6055	rs886048028	Uncertain significance	Deficiency of isobutyryl-CoA dehydrogenase	RCV000357919	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	tagSNP	rs886048028
Clinvar_Rec_6056	rs139716145	Uncertain significance	Deficiency of isobutyryl-CoA dehydrogenase	RCV000361701	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	tagSNP	rs139716145
Clinvar_Rec_6057	rs7987664	Benign/Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Seizures;not provided;not specified	RCV000305280;RCV000715185;RCV000675515;RCV000081418	MedGen;MedGen	CN239251;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7987664
Clinvar_Rec_6058	rs7987664	Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000374238	MedGen	CN239251	criteria provided, single submitter	LD derived	rs9573974
Clinvar_Rec_6059	rs34481987	Benign/Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified	RCV000312256;RCV000476942;RCV000716089;RCV000675520;RCV000116756	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	CN239251;MedGen;214200;ORPHA216;42012007;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34481987
Clinvar_Rec_6060	rs34481987	Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000312250	MedGen	CN239251	criteria provided, single submitter	LD derived	rs80200123
Clinvar_Rec_6061	rs369100769	Uncertain significance	Neuronal ceroid lipofuscinosis;not provided	RCV000473641;RCV000187073	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369100769
Clinvar_Rec_6062	rs1555274325	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000632697	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs1555274325
Clinvar_Rec_6063	rs535755345	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000550237	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs535755345
Clinvar_Rec_6064	rs116531784	Benign/Likely benign	Seizures;not provided;not specified	RCV000716187;RCV000461034;RCV000178272	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs116531784
Clinvar_Rec_6065	rs386833967	Pathogenic	Neuronal ceroid lipofuscinosis	RCV000632714	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs386833967
Clinvar_Rec_6066	rs886050345	Uncertain significance	Tourette Syndrome	RCV000272959	MedGen;OMIM	C0040517;137580	criteria provided, single submitter	tagSNP	rs886050345
Clinvar_Rec_6067	rs587777070	Pathogenic	Deafness and myopia	RCV000074449	MedGen;OMIM;Orphanet	C3806275;221200;ORPHA363396	no assertion criteria provided	tagSNP	rs587777070
Clinvar_Rec_6068	rs140283079	Likely benign	Aural atresia, congenital	RCV000348010	MedGen;OMIM	C1842937;607842	criteria provided, single submitter	tagSNP	rs140283079
Clinvar_Rec_6069	rs730882070	Pathogenic	Aural atresia, congenital	RCV000024185	MedGen;OMIM	C1842937;607842	no assertion criteria provided	tagSNP	rs730882070
Clinvar_Rec_6070	rs3744910	Likely benign	Aural atresia, congenital	RCV000383434	MedGen;OMIM	C1842937;607842	criteria provided, single submitter	tagSNP	rs3744910
Clinvar_Rec_6071	rs536352264	Conflicting interpretations of pathogenicity	Amish lethal microcephaly;not provided	RCV000401790;RCV000897558	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742;MedGen	criteria provided, conflicting interpretations	LD derived	rs146573563
Clinvar_Rec_6072	rs1567950778	Pathogenic	Intellectual developmental disorder with cardiac defects and dysmorphic facies	RCV000754830	MedGen;OMIM	CN258197;618316	no assertion criteria provided	tagSNP	rs1567950778
Clinvar_Rec_6073	rs587784479	Pathogenic	Olivopontocerebellar hypoplasia	RCV000147787	Human Phenotype Ontology;MedGen	HP;C1859341	criteria provided, single submitter	tagSNP	rs587784479
Clinvar_Rec_6074	rs199682817	Conflicting interpretations of pathogenicity	Pontoneocerebellar hypoplasia;not provided	RCV000345618;RCV000897446	MedGen;SNOMED CT	C1261175;373666002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199682817
Clinvar_Rec_6075	rs1555748926	Uncertain significance	Deficiency of galactokinase	RCV000671906	MedGen;OMIM;Orphanet;SNOMED CT	C0268155;230200;ORPHA79237;124302001	criteria provided, single submitter	tagSNP	rs1555748926
Clinvar_Rec_6076	rs541360201	Uncertain significance	Epidermolysis bullosa junctionalis with pyloric atresia	RCV000402623	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403	criteria provided, single submitter	LD derived	rs138928712
Clinvar_Rec_6077	rs34587622	Benign	Hereditary Neuralgic Amyotrophy (HNA);not specified	RCV000406676;RCV000518341	MedGen	CN239156;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34587622
Clinvar_Rec_6078	rs573358961	Uncertain significance	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1	RCV000630751	MedGen;OMIM	C4722564;226400	criteria provided, single submitter	LD derived	rs537200296
Clinvar_Rec_6079	rs558210197	Uncertain significance	Desbuquois syndrome	RCV000308295	MedGen;Orphanet;SNOMED CT	C0432242;ORPHA1425;254099008	criteria provided, single submitter	LD derived	rs199516699
Clinvar_Rec_6080	rs78037898	Uncertain significance	Desbuquois syndrome	RCV000361463	MedGen;Orphanet;SNOMED CT	C0432242;ORPHA1425;254099008	criteria provided, single submitter	tagSNP	rs78037898
Clinvar_Rec_6081	rs587776898	Pathogenic	Desbuquois dysplasia 1	RCV000024009	MedGen;OMIM	C4012146;251450	no assertion criteria provided	tagSNP	rs587776898
Clinvar_Rec_6082	rs867691817	Uncertain significance	Desbuquois syndrome	RCV000337348	MedGen;Orphanet;SNOMED CT	C0432242;ORPHA1425;254099008	criteria provided, single submitter	tagSNP	rs867691817
Clinvar_Rec_6083	rs750628862	Uncertain significance	Primary ciliary dyskinesia	RCV000459946	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs750628862
Clinvar_Rec_6084	rs886053544	Uncertain significance	Glycogen storage disease, type II	RCV000314949	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002	criteria provided, single submitter	tagSNP	rs886053544
Clinvar_Rec_6085	rs1555601234	Pathogenic	Inborn genetic diseases	RCV000622656	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555601234
Clinvar_Rec_6086	rs886043997	Uncertain significance	Glycogen storage disease, type II;not provided	RCV000803211;RCV000393127	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886043997
Clinvar_Rec_6087	rs771259598	Uncertain significance	Glycogen storage disease, type II	RCV000704659	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002	criteria provided, single submitter	tagSNP	rs771259598
Clinvar_Rec_6088	rs17853996	Benign/Likely benign	Glycogen storage disease, type II;not provided;not specified	RCV001001793;RCV000588826;RCV000440644	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17853996
Clinvar_Rec_6089	rs1046832	Benign	Sanfilippo syndrome	RCV000275910	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs1046832
Clinvar_Rec_6090	rs141810727	Uncertain significance	Sanfilippo syndrome	RCV000321384	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	LD derived	rs139066649
Clinvar_Rec_6091	rs58786455	Benign/Likely benign	Sanfilippo syndrome;not provided;not specified	RCV000357704;RCV000676151;RCV000248430	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs58786455
Clinvar_Rec_6092	rs201620985	Benign	Moyamoya disease 2;not provided	RCV000509659;RCV000879899	MedGen;OMIM	C1846689;607151;MedGen	criteria provided, single submitter	tagSNP	rs201620985
Clinvar_Rec_6093	rs1555675612	Uncertain significance	Moyamoya disease 2	RCV000510103	MedGen;OMIM	C1846689;607151	no assertion criteria provided	tagSNP	rs1555675612
Clinvar_Rec_6094	rs281875325	Pathogenic	Baraitser-Winter Syndrome 2;not provided	RCV000022423;RCV000059723	MedGen;OMIM	C3281235;614583;MedGen	no assertion criteria provided	tagSNP	rs281875325
Clinvar_Rec_6095	rs1057518673	Likely pathogenic	Baraitser-Winter Syndrome 2	RCV000415380	MedGen;OMIM	C3281235;614583	no assertion criteria provided	tagSNP	rs1057518673
Clinvar_Rec_6096	rs376633374	Benign	Leber congenital amaurosis;Macular degeneration;Retinitis pigmentosa 30;not provided	RCV000144473;RCV000412604;RCV000003079;RCV000132615	MeSH;MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;OMIM	D057130;C0339527;ORPHA65;193413001;Human Phenotype Ontology;C0024437;422338006;MedGen;607921;MedGen	criteria provided, single submitter	tagSNP	rs376633374
Clinvar_Rec_6097	rs142046533	Likely benign	Epileptic encephalopathy	RCV000534105	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs199670165
Clinvar_Rec_6098	rs886053568	Uncertain significance	Cutis laxa, recessive	RCV000330795	MedGen	C2931134	criteria provided, single submitter	tagSNP	rs886053568
Clinvar_Rec_6099	rs886053570	Uncertain significance	Cutis laxa, recessive	RCV000278272	MedGen	C2931134	criteria provided, single submitter	tagSNP	rs886053570
Clinvar_Rec_6100	rs755581631	Likely benign	Epileptic encephalopathy	RCV000637197	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs755581631
Clinvar_Rec_6101	rs1451796502	Uncertain significance	Epileptic encephalopathy	RCV000696592	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1451796502
Clinvar_Rec_6102	rs552377609	Uncertain significance	Epileptic encephalopathy	RCV000531287	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs146811868
Clinvar_Rec_6103	rs104894561	Pathogenic	Advanced sleep phase syndrome, familial, 2	RCV000009280	MedGen;OMIM	C3808874;615224	no assertion criteria provided	tagSNP	rs104894561
Clinvar_Rec_6104	rs904582	Benign	Charcot-Marie-Tooth disease type 4;not provided;not specified	RCV000368855;RCV000860353;RCV000517248	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs904582
Clinvar_Rec_6105	rs904582	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease type 4;not provided;not specified	RCV000470504;RCV000857976;RCV000178387	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs904582
Clinvar_Rec_6106	rs770729087	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000654130	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs770729087
Clinvar_Rec_6107	rs10844318	Benign	Lethal Encephalopathy;not provided;not specified	RCV000350107;RCV000675859;RCV000249820	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs10844318
Clinvar_Rec_6108	rs10844318	Benign	Lethal Encephalopathy;not provided;not specified	RCV000374464;RCV000675856;RCV000250836	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844308
Clinvar_Rec_6109	rs10844318	Benign	Lethal Encephalopathy;not provided;not specified	RCV000280040;RCV000675857;RCV000246489	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272238
Clinvar_Rec_6110	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000300893;RCV000353033;RCV000367296	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1059422
Clinvar_Rec_6111	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000313747;RCV000332280;RCV000275050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs3200103
Clinvar_Rec_6112	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000370573;RCV000383827;RCV000268977	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1020670
Clinvar_Rec_6113	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000285137;RCV000405634;RCV000377247	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1971911
Clinvar_Rec_6114	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000391164;RCV000326126;RCV000293050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052213
Clinvar_Rec_6115	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000350379;RCV000286166;RCV000391184	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844336
Clinvar_Rec_6116	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000371457;RCV000406313;RCV000319068	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052214
Clinvar_Rec_6117	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000392192;RCV000322564;RCV000305932	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844337
Clinvar_Rec_6118	rs10844318	Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided	RCV000280875;RCV000377688;RCV000676970	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, single submitter	LD derived	rs11539445
Clinvar_Rec_6119	rs10844318	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2	RCV000088672	MedGen;OMIM	C3150802;613561	no assertion criteria provided	LD derived	rs11539445
Clinvar_Rec_6120	rs10844318	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided;not specified	RCV000362476;RCV000310151;RCV000676971;RCV000126351	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11539444
Clinvar_Rec_6121	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000300893;RCV000353033;RCV000367296	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	tagSNP	rs1059422
Clinvar_Rec_6122	rs1059422	Benign	Lethal Encephalopathy;not provided;not specified	RCV000374464;RCV000675856;RCV000250836	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844308
Clinvar_Rec_6123	rs1059422	Benign	Lethal Encephalopathy;not provided;not specified	RCV000280040;RCV000675857;RCV000246489	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272238
Clinvar_Rec_6124	rs1059422	Benign	Lethal Encephalopathy;not provided;not specified	RCV000350107;RCV000675859;RCV000249820	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844318
Clinvar_Rec_6125	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000313747;RCV000332280;RCV000275050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs3200103
Clinvar_Rec_6126	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000370573;RCV000383827;RCV000268977	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1020670
Clinvar_Rec_6127	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000285137;RCV000405634;RCV000377247	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1971911
Clinvar_Rec_6128	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000391164;RCV000326126;RCV000293050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052213
Clinvar_Rec_6129	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000350379;RCV000286166;RCV000391184	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844336
Clinvar_Rec_6130	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000371457;RCV000406313;RCV000319068	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052214
Clinvar_Rec_6131	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000392192;RCV000322564;RCV000305932	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844337
Clinvar_Rec_6132	rs1059422	Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided	RCV000280875;RCV000377688;RCV000676970	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, single submitter	LD derived	rs11539445
Clinvar_Rec_6133	rs1059422	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2	RCV000088672	MedGen;OMIM	C3150802;613561	no assertion criteria provided	LD derived	rs11539445
Clinvar_Rec_6134	rs1059422	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided;not specified	RCV000362476;RCV000310151;RCV000676971;RCV000126351	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11539444
Clinvar_Rec_6135	rs34421401	Uncertain significance	Lethal Encephalopathy;not provided	RCV000277306;RCV000675861	MedGen	CN239368;MedGen	criteria provided, single submitter	tagSNP	rs34421401
Clinvar_Rec_6136	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000313747;RCV000332280;RCV000275050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	tagSNP	rs3200103
Clinvar_Rec_6137	rs3200103	Benign	Lethal Encephalopathy;not provided;not specified	RCV000374464;RCV000675856;RCV000250836	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844308
Clinvar_Rec_6138	rs3200103	Benign	Lethal Encephalopathy;not provided;not specified	RCV000280040;RCV000675857;RCV000246489	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272238
Clinvar_Rec_6139	rs3200103	Benign	Lethal Encephalopathy;not provided;not specified	RCV000350107;RCV000675859;RCV000249820	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844318
Clinvar_Rec_6140	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000300893;RCV000353033;RCV000367296	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1059422
Clinvar_Rec_6141	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000370573;RCV000383827;RCV000268977	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1020670
Clinvar_Rec_6142	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000285137;RCV000405634;RCV000377247	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1971911
Clinvar_Rec_6143	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000391164;RCV000326126;RCV000293050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052213
Clinvar_Rec_6144	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000350379;RCV000286166;RCV000391184	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844336
Clinvar_Rec_6145	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000371457;RCV000406313;RCV000319068	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052214
Clinvar_Rec_6146	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000392192;RCV000322564;RCV000305932	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844337
Clinvar_Rec_6147	rs3200103	Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided	RCV000280875;RCV000377688;RCV000676970	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, single submitter	LD derived	rs11539445
Clinvar_Rec_6148	rs3200103	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2	RCV000088672	MedGen;OMIM	C3150802;613561	no assertion criteria provided	LD derived	rs11539445
Clinvar_Rec_6149	rs3200103	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided;not specified	RCV000362476;RCV000310151;RCV000676971;RCV000126351	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11539444
Clinvar_Rec_6150	rs587777215	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2	RCV000088674	MedGen;OMIM	C3150802;613561	no assertion criteria provided	tagSNP	rs587777215
Clinvar_Rec_6151	rs11539445	Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided	RCV000280875;RCV000377688;RCV000676970	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, single submitter	tagSNP	rs11539445
Clinvar_Rec_6152	rs11539445	Pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 2	RCV000088672	MedGen;OMIM	C3150802;613561	no assertion criteria provided	tagSNP	rs11539445
Clinvar_Rec_6153	rs11539445	Benign	Lethal Encephalopathy;not provided;not specified	RCV000374464;RCV000675856;RCV000250836	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844308
Clinvar_Rec_6154	rs11539445	Benign	Lethal Encephalopathy;not provided;not specified	RCV000280040;RCV000675857;RCV000246489	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272238
Clinvar_Rec_6155	rs11539445	Benign	Lethal Encephalopathy;not provided;not specified	RCV000350107;RCV000675859;RCV000249820	MedGen	CN239368;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10844318
Clinvar_Rec_6156	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000300893;RCV000353033;RCV000367296	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1059422
Clinvar_Rec_6157	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000313747;RCV000332280;RCV000275050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs3200103
Clinvar_Rec_6158	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000370573;RCV000383827;RCV000268977	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1020670
Clinvar_Rec_6159	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000285137;RCV000405634;RCV000377247	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs1971911
Clinvar_Rec_6160	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000391164;RCV000326126;RCV000293050	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052213
Clinvar_Rec_6161	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000350379;RCV000286166;RCV000391184	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844336
Clinvar_Rec_6162	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000371457;RCV000406313;RCV000319068	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs11052214
Clinvar_Rec_6163	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Lethal Encephalopathy;Mitochondrial myopathy and sideroblastic anemia	RCV000392192;RCV000322564;RCV000305932	MedGen;Orphanet	CN239187;MedGen;ORPHA2598	criteria provided, single submitter	LD derived	rs10844337
Clinvar_Rec_6164	rs11539445	Benign/Likely benign	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Mitochondrial myopathy and sideroblastic anemia;not provided;not specified	RCV000362476;RCV000310151;RCV000676971;RCV000126351	MedGen;Orphanet	CN239187;MedGen;ORPHA2598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11539444
Clinvar_Rec_6165	rs766792445	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000262591	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs766792445
Clinvar_Rec_6166	rs886049317	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000355228	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs886049317
Clinvar_Rec_6167	rs752195586	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 9	RCV000692916	MedGen;OMIM	C1836906;609040	criteria provided, single submitter	tagSNP	rs752195586
Clinvar_Rec_6168	rs1555141066	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 9	RCV000602826	MedGen;OMIM	C1836906;609040	no assertion criteria provided	tagSNP	rs1555141066
Clinvar_Rec_6169	rs199957846	Uncertain significance	Primary familial hypertrophic cardiomyopathy;not provided	RCV000157410;RCV000172091	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005;MedGen	criteria provided, single submitter	tagSNP	rs199957846
Clinvar_Rec_6170	rs762366326	Likely benign	Cardiomyopathy	RCV000775102	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs762366326
Clinvar_Rec_6171	rs727503373	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided;not specified	RCV000707016;RCV000756543;RCV000151661	MedGen;OMIM	C1836906;609040;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503373
Clinvar_Rec_6172	rs779688115	Uncertain significance	Congenital fibrosis of the extraocular muscles	RCV000386473	MedGen	CN043677	criteria provided, single submitter	tagSNP	rs779688115
Clinvar_Rec_6173	rs773442562	Pathogenic	Glomuvenous malformations;not specified	RCV000008250;RCV000508168	MedGen;OMIM;Orphanet	C1841984;138000;ORPHA83454;MedGen	criteria provided, single submitter	tagSNP	rs773442562
Clinvar_Rec_6174	rs376042061	Uncertain significance	Severe congenital neutropenia 2, autosomal dominant	RCV000685701	MedGen;OMIM	C2751288;613107	criteria provided, single submitter	tagSNP	rs376042061
Clinvar_Rec_6175	rs190504932	Likely benign	Severe congenital neutropenia	RCV000379137	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	LD derived	rs191572929
Clinvar_Rec_6176	rs145634330	Likely benign	Diamond-Blackfan anemia	RCV000294405	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs145634330
Clinvar_Rec_6177	rs1553285028	Uncertain significance	Diamond-Blackfan anemia	RCV000638827	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1553285028
Clinvar_Rec_6178	rs145058455	Likely benign	Diamond-Blackfan anemia	RCV000361575	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs145058455
Clinvar_Rec_6179	rs11540832	Benign/Likely benign	Diamond-Blackfan anemia;Diamond-Blackfan anemia 1;not provided;not specified	RCV000233634;RCV000986343;RCV000513699;RCV000503324	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C1260899;ORPHA124;88854002;MedGen;105650;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11540832
Clinvar_Rec_6180	rs587777118	Pathogenic	Diamond-Blackfan anemia 6	RCV000087039	MedGen;OMIM;SNOMED CT	C2931850;612561;71988008	no assertion criteria provided	tagSNP	rs587777118
Clinvar_Rec_6181	rs773839391	Conflicting interpretations of pathogenicity	Diamond-Blackfan anemia;not provided	RCV000365270;RCV000859284	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs773839391
Clinvar_Rec_6182	rs794727706	Pathogenic	Glycogen storage disease type III;not provided	RCV000984241;RCV000178792	MedGen;OMIM;Orphanet;SNOMED CT	C0017922;232400;ORPHA366;66937008;MedGen	criteria provided, single submitter	tagSNP	rs794727706
Clinvar_Rec_6183	rs75525811	Conflicting interpretations of pathogenicity	Maple syrup urine disease;not provided	RCV000280987;RCV000079935	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs75525811
Clinvar_Rec_6184	rs1553228626	Uncertain significance	Maple syrup urine disease	RCV000673281	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	tagSNP	rs1553228626
Clinvar_Rec_6185	rs1676486	Benign	Fibrochondrogenesis 1;Lumbar disc herniation, susceptibility to;Marshall syndrome;Stickler Syndrome, Dominant;not specified	RCV000332848;RCV000018675;RCV000387237;RCV000292881;RCV000252849	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3278138;228520;MedGen;154780;ORPHA560;33410002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1676486
Clinvar_Rec_6186	rs75321043	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified	RCV000129347;RCV000123155;RCV000034680;RCV000121606	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798;MedGen	criteria provided, conflicting interpretations	tagSNP	rs75321043
Clinvar_Rec_6187	rs75321043	Uncertain significance	MYH-associated polyposis	RCV000384567	MedGen;OMIM;Orphanet	C1837991;608456;ORPHA247798	criteria provided, single submitter	LD derived	rs373507005
Clinvar_Rec_6188	rs75321043	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified	RCV000129344;RCV000123151;RCV000034676;RCV000121605	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798;MedGen	criteria provided, conflicting interpretations	LD derived	rs79777494
Clinvar_Rec_6189	rs75321043	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000264172	MedGen	CN043592	criteria provided, single submitter	LD derived	rs79422588
Clinvar_Rec_6190	rs2275602	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584461	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs2275602
Clinvar_Rec_6191	rs2275602	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not specified	RCV000579941;RCV000126892	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2275602
Clinvar_Rec_6192	rs201746729	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000583042;RCV000545977	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201746729
Clinvar_Rec_6193	rs766584437	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000772838;RCV000937891	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766584437
Clinvar_Rec_6194	rs1257204721	Likely pathogenic	Methylmalonic acidemia with homocystinuria	RCV000668639	MedGen;OMIM;Orphanet	C1848561;277400;ORPHA26	criteria provided, single submitter	tagSNP	rs1257204721
Clinvar_Rec_6195	rs550837993	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000583042;RCV000545977	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201746729
Clinvar_Rec_6196	rs1225063106	Uncertain significance	Primary autosomal recessive microcephaly 7	RCV000778984	MedGen;OMIM	C2675187;612703	criteria provided, single submitter	tagSNP	rs1225063106
Clinvar_Rec_6197	rs886046390	Uncertain significance	Primary Microcephaly, Recessive	RCV000404279	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886046390
Clinvar_Rec_6198	rs587784448	Uncertain significance	Primary autosomal recessive microcephaly 7	RCV000147684	MedGen;OMIM	C2675187;612703	criteria provided, single submitter	tagSNP	rs587784448
Clinvar_Rec_6199	rs886046391	Uncertain significance	Primary Microcephaly, Recessive	RCV000365592	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886046391
Clinvar_Rec_6200	rs202095223	Uncertain significance	Meier-Gorlin syndrome 1;not specified	RCV000660447;RCV000500202	MedGen;OMIM	C4552001;224690;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs202095223
Clinvar_Rec_6201	rs753124340	Uncertain significance	Meier-Gorlin syndrome	RCV000341764	MedGen;Orphanet	C1868684;ORPHA2554	criteria provided, single submitter	tagSNP	rs753124340
Clinvar_Rec_6202	rs886046408	Uncertain significance	Carnitine palmitoyltransferase II deficiency	RCV000284790	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs886046408
Clinvar_Rec_6203	rs1238901632	Pathogenic	Carnitine palmitoyltransferase II deficiency	RCV000635361	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs1238901632
Clinvar_Rec_6204	rs750191719	Uncertain significance	Carnitine palmitoyltransferase II deficiency	RCV000539032	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs750191719
Clinvar_Rec_6205	rs761438840	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	RCV000411515;RCV000409099;RCV000409968	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1833511;600649;ORPHA228305;MedGen;608836;ORPHA228308;MedGen;255110;ORPHA228302	criteria provided, single submitter	tagSNP	rs761438840
Clinvar_Rec_6206	rs2229291	Benign/Likely benign	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Encephalopathy, acute, infection-induced, 4, susceptibility to;not provided;not specified	RCV000202443;RCV000578014;RCV000578014;RCV000023026;RCV000444353;RCV000078115	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM	C0342790;ORPHA157;238002005;MedGen;600649;ORPHA228305;MedGen;608836;ORPHA228308;MedGen;614212;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229291
Clinvar_Rec_6207	rs74315297	Conflicting interpretations of pathogenicity, other	Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;not provided;not specified	RCV000202478;RCV000202553;RCV000009520;RCV000178040;RCV000430397	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet	C0342790;ORPHA157;238002005;MedGen;ORPHA157;238002005;MedGen;255110;ORPHA228302;MedGen	criteria provided, conflicting interpretations	tagSNP	rs74315297
Clinvar_Rec_6208	rs1553170037	Uncertain significance	Carnitine palmitoyltransferase II deficiency	RCV000555526	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs1553170037
Clinvar_Rec_6209	rs1553170038	Uncertain significance	Carnitine palmitoyltransferase II deficiency, infantile	RCV000673484	MedGen;OMIM;Orphanet	C1833511;600649;ORPHA228305	criteria provided, single submitter	tagSNP	rs1553170038
Clinvar_Rec_6210	rs14829	Likely benign	Carnitine palmitoyltransferase II deficiency	RCV000299911	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs14829
Clinvar_Rec_6211	rs7374	Benign	Desmosterolosis	RCV000402425	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	criteria provided, single submitter	tagSNP	rs7374
Clinvar_Rec_6212	rs79299252	Uncertain significance	Desmosterolosis	RCV000271539	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	criteria provided, single submitter	tagSNP	rs79299252
Clinvar_Rec_6213	rs116289873	Uncertain significance	Desmosterolosis	RCV000332314	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	criteria provided, single submitter	tagSNP	rs116289873
Clinvar_Rec_6214	rs1060500658	Uncertain significance	Familial hypercholesterolemia 3	RCV000466490	MedGen;OMIM	C1863551;603776	criteria provided, single submitter	tagSNP	rs1060500658
Clinvar_Rec_6215	rs763903895	Uncertain significance	Familial hypercholesterolemia	RCV000775299	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs763903895
Clinvar_Rec_6216	rs886046448	Uncertain significance	Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia	RCV000342478;RCV000282767	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT	C0745103;143890;397915002;MedGen;ORPHA426;60193003	criteria provided, single submitter	tagSNP	rs886046448
Clinvar_Rec_6217	rs2296212	Benign	History of neurodevelopmental disorder;Nicolaides-Baraitser syndrome;not specified	RCV000715215;RCV000298011;RCV000114292	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;601358;ORPHA3051;401046009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2296212
Clinvar_Rec_6218	rs758742198	Uncertain significance	Nicolaides-Baraitser syndrome	RCV000290960	MedGen;OMIM;Orphanet;SNOMED CT	C1303073;601358;ORPHA3051;401046009	criteria provided, single submitter	tagSNP	rs758742198
Clinvar_Rec_6219	rs532544590	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000312816	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	LD derived	rs199506457
Clinvar_Rec_6220	rs2228098	Benign	Non-ketotic hyperglycinemia;not provided;not specified	RCV000286373;RCV000711812;RCV000251539	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2228098
Clinvar_Rec_6221	rs386833517	Pathogenic	Non-ketotic hyperglycinemia;not provided	RCV000049445;RCV000404397	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs386833517
Clinvar_Rec_6222	rs375737268	Uncertain significance	Oculotrichoanal syndrome	RCV000359786	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs375737268
Clinvar_Rec_6223	rs2678166	Benign	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;Thiamine-responsive megaloblastic anemia	RCV000384179;RCV000327336	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0342287;249270;ORPHA49827;237617006;Human Phenotype Ontology;C0271972	criteria provided, single submitter	tagSNP	rs2678166
Clinvar_Rec_6224	rs114334583	Conflicting interpretations of pathogenicity	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness;Monogenic diabetes;Thiamine-responsive megaloblastic anemia;not provided;not specified	RCV000272929;RCV000445536;RCV000325732;RCV000894413;RCV000440688	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;MedGen	C0342287;249270;ORPHA49827;237617006;MedGen;ORPHA183625;Human Phenotype Ontology;C0271972;MedGen	criteria provided, conflicting interpretations	LD derived	rs75099879
Clinvar_Rec_6225	rs373880789	Conflicting interpretations of pathogenicity	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not provided	RCV000402033;RCV000300358;RCV000299114;RCV000361040;RCV000901439	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373880789
Clinvar_Rec_6226	rs9332604	Conflicting interpretations of pathogenicity	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not provided	RCV000396759;RCV000380348;RCV000285967;RCV000345503;RCV000898212	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs9332604
Clinvar_Rec_6227	rs41272465	Uncertain significance	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis	RCV000261875;RCV000371790;RCV000295799;RCV000332031	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004	criteria provided, single submitter	tagSNP	rs41272465
Clinvar_Rec_6228	rs886045562	Uncertain significance	Glaucoma;Primary open angle glaucoma	RCV000382525;RCV000325978	Human Phenotype Ontology;MedGen;MedGen;OMIM;SNOMED CT	HP;C0017601;Human Phenotype Ontology;C0339573;137760;77075001	criteria provided, single submitter	tagSNP	rs886045562
Clinvar_Rec_6229	rs74315329	Likely pathogenic	Abnormality of T cell physiology;Abnormality of cellular immune system;Congenital combined immunodeficiency;Glaucoma 1, open angle, A;Immunodeficiency;Lymphopenia;Primary open angle glaucoma;Severe combined immunodeficiency disease	RCV000735309;RCV000735309;RCV000735309;RCV000008412;RCV000735309;RCV000735309;RCV000369379;RCV000735309	Human Phenotype Ontology;MedGen;MedGen;MedGen;OMIM;MedGen;MedGen;MedGen;OMIM;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	HP;C4023166;Human Phenotype Ontology;C4023612;Human Phenotype Ontology;C0494261;MedGen;137750;Human Phenotype Ontology;C0021051;Human Phenotype Ontology;C0024312;Human Phenotype Ontology;C0339573;137760;77075001;Human Phenotype Ontology;D016511;C0085110;ORPHA183660;31323000	criteria provided, multiple submitters, no conflicts	tagSNP	rs74315329
Clinvar_Rec_6230	rs1553200766	Pathogenic	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	RCV000626171	MedGen;OMIM;Orphanet	C1970180;611105;ORPHA137898	criteria provided, single submitter	tagSNP	rs1553200766
Clinvar_Rec_6231	rs886045591	Uncertain significance	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	RCV000320285	MedGen;OMIM;Orphanet	C1970180;611105;ORPHA137898	criteria provided, single submitter	tagSNP	rs886045591
Clinvar_Rec_6232	rs121918205	Pathogenic	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	RCV000001113	MedGen;OMIM;Orphanet	C1970180;611105;ORPHA137898	no assertion criteria provided	tagSNP	rs121918205
Clinvar_Rec_6233	rs775375281	Uncertain significance	Muscular dystrophy, limb-girdle, type 2y	RCV000560149	MedGen;OMIM;Orphanet	C4310731;617072;ORPHA424261	criteria provided, single submitter	tagSNP	rs775375281
Clinvar_Rec_6234	rs200812894	Uncertain significance	Muscular dystrophy, limb-girdle, type 2y	RCV000686670	MedGen;OMIM;Orphanet	C4310731;617072;ORPHA424261	criteria provided, single submitter	tagSNP	rs200812894
Clinvar_Rec_6235	rs1558045449	Uncertain significance	Muscular dystrophy, limb-girdle, type 2y	RCV000699251	MedGen;OMIM;Orphanet	C4310731;617072;ORPHA424261	criteria provided, single submitter	tagSNP	rs1558045449
Clinvar_Rec_6236	rs147111149	Likely benign	Thoracic aortic aneurysm and aortic dissection;not provided	RCV000241864;RCV000877402	MedGen;Orphanet	C4707243;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147111149
Clinvar_Rec_6237	rs869025536	Uncertain significance	Loeys-Dietz syndrome	RCV000208008	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	tagSNP	rs869025536
Clinvar_Rec_6238	rs886038847	Pathogenic	Cardiovascular phenotype	RCV000247764	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038847
Clinvar_Rec_6239	rs863223845	Likely pathogenic	Thoracic aortic aneurysm and aortic dissection	RCV000253663	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs863223845
Clinvar_Rec_6240	rs1060501983	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000464518	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1060501983
Clinvar_Rec_6241	rs876658120	Likely pathogenic	Marfan syndrome	RCV000217150	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs876658120
Clinvar_Rec_6242	rs886038768	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000473289	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs886038768
Clinvar_Rec_6243	rs886038768	Uncertain significance	Cardiovascular phenotype	RCV000249863	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038768
Clinvar_Rec_6244	rs1553662705	Uncertain significance	Cardiovascular phenotype	RCV000621100	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1553662705
Clinvar_Rec_6245	rs147700828	Likely benign	Brugada syndrome	RCV000369802	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs147700828
Clinvar_Rec_6246	rs78129605	Likely benign	Brugada syndrome	RCV000353748	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs78129605
Clinvar_Rec_6247	rs1553604656	Uncertain significance	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	RCV000666165;RCV000666165;RCV000666165	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004	criteria provided, single submitter	tagSNP	rs1553604656
Clinvar_Rec_6248	rs73826339	Benign/Likely benign	GM1 gangliosidosis;GM1 gangliosidosis;Morquio syndrome;Mucopolysaccharidosis, MPS-IV-B;not specified	RCV000355730;RCV000526685;RCV000260653;RCV000526685;RCV000078705	MedGen;Orphanet;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0085131;ORPHA354;MedGen;ORPHA354;MedGen;ORPHA582;378007;MedGen;253010;ORPHA309310;238044004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73826339
Clinvar_Rec_6249	rs968221254	Uncertain significance	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	RCV000668974;RCV000668974;RCV000668974	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004	criteria provided, single submitter	tagSNP	rs968221254
Clinvar_Rec_6250	rs1280400930	Uncertain significance	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	RCV000669124;RCV000669124;RCV000669124	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004	criteria provided, single submitter	tagSNP	rs1280400930
Clinvar_Rec_6251	rs1127898	Benign	Osteogenesis Imperfecta, Recessive	RCV000370650	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs1127898
Clinvar_Rec_6252	rs886058373	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000299573	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs886058373
Clinvar_Rec_6253	rs540853691	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000366141	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs540853691
Clinvar_Rec_6254	rs554101959	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000317175	MedGen	CN239451	criteria provided, single submitter	LD derived	rs553161393
Clinvar_Rec_6255	rs149759336	Pathogenic	Osteogenesis imperfecta type 7	RCV000005238	MedGen;OMIM	C1853162;610682	no assertion criteria provided	LD derived	rs72659361
Clinvar_Rec_6256	rs559329092	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001005036;RCV000167219;RCV000702569	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	LD derived	rs146777069
Clinvar_Rec_6257	rs559329092	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome II;not provided;not specified	RCV000162434;RCV000662528;RCV000473453;RCV000420662	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;609310;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146777069
Clinvar_Rec_6258	rs587779047	Pathogenic	Lynch syndrome	RCV000075894	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779047
Clinvar_Rec_6259	rs587779047	Pathogenic	Lynch syndrome	RCV000075895	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779047
Clinvar_Rec_6260	rs63750421	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000777184;RCV000527545	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750421
Clinvar_Rec_6261	rs1553650666	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561238	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553650666
Clinvar_Rec_6262	rs746800098	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000564502;RCV000630395;RCV000424856	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746800098
Clinvar_Rec_6263	rs587778894	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772775	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587778894
Clinvar_Rec_6264	rs587778894	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV001034673;RCV000075144	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs587778894
Clinvar_Rec_6265	rs587782884	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000132521;RCV000811189;RCV000759079;RCV000202075	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782884
Clinvar_Rec_6266	rs587778897	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000701541	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs587778897
Clinvar_Rec_6267	rs587778897	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000774704;RCV001067467	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs587778897
Clinvar_Rec_6268	rs1311368931	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629688	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1311368931
Clinvar_Rec_6269	rs587778899	Pathogenic	Lynch syndrome	RCV000075153	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778899
Clinvar_Rec_6270	rs41294980	Benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;not provided;not specified	RCV000130336;RCV000075152;RCV000987170;RCV000034539;RCV000121359	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;609310;MedGen	reviewed by expert panel	tagSNP	rs41294980
Clinvar_Rec_6271	rs587778900	Pathogenic	Lynch syndrome	RCV000075154	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778900
Clinvar_Rec_6272	rs1553651065	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630306	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553651065
Clinvar_Rec_6273	rs1553651447	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573747	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553651447
Clinvar_Rec_6274	rs1553651447	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581509	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553651447
Clinvar_Rec_6275	rs63750498	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000162406;RCV000541695;RCV000588918	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750498
Clinvar_Rec_6276	rs1553652889	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571757	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553652889
Clinvar_Rec_6277	rs924092154	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000775742;RCV000466029	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs924092154
Clinvar_Rec_6278	rs527630773	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000569865;RCV000919513;RCV000417703	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs567838745
Clinvar_Rec_6279	rs527630773	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome II;not provided;not specified	RCV000165449;RCV000662457;RCV000759810;RCV000420605	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;609310;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs567838745
Clinvar_Rec_6280	rs138284536	Uncertain significance	Myd88 deficiency	RCV000646122	MedGen;OMIM;Orphanet	C2677092;612260;ORPHA183713	criteria provided, single submitter	tagSNP	rs138284536
Clinvar_Rec_6281	rs559626026	Uncertain significance	Heterotaxia	RCV000301955	Human Phenotype Ontology;MedGen;Orphanet	HP;C3178805;ORPHA450	criteria provided, single submitter	tagSNP	rs559626026
Clinvar_Rec_6282	rs551014999	Uncertain significance	Brugada syndrome	RCV000529917	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	LD derived	rs536201762
Clinvar_Rec_6283	rs561475141	Uncertain significance	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000394013;RCV000291324;RCV000283377;RCV000377939;RCV000327663;RCV000280045;RCV000343041	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, single submitter	tagSNP	rs561475141
Clinvar_Rec_6284	rs561475141	Uncertain significance	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000335131;RCV000370122;RCV000368862;RCV000401083;RCV000394005;RCV000315344;RCV000300018	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, single submitter	LD derived	rs546849670
Clinvar_Rec_6285	rs558904601	Likely benign	Arrhythmia	RCV000772509	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006	criteria provided, single submitter	tagSNP	rs558904601
Clinvar_Rec_6286	rs199473313	not provided	Brugada syndrome	RCV000058769	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	no assertion provided	tagSNP	rs199473313
Clinvar_Rec_6287	rs199473633	not provided	Congenital long QT syndrome	RCV000058768	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473633
Clinvar_Rec_6288	rs142420345	Conflicting interpretations of pathogenicity	Anemia, sideroblastic, 1;Refractory anemia with ringed sideroblasts (clinical);not specified	RCV000266145;RCV000302431;RCV000612332	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C4551511;300751;ORPHA75563;Human Phenotype Ontology;C1264195;ORPHA75564;109998009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142420345
Clinvar_Rec_6289	rs2039847	Benign	Anemia, sideroblastic, 1;Refractory anemia with ringed sideroblasts (clinical)	RCV000273716;RCV000370946	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C4551511;300751;ORPHA75563;Human Phenotype Ontology;C1264195;ORPHA75564;109998009	criteria provided, single submitter	LD derived	rs12991
Clinvar_Rec_6290	rs2039847	Benign	Anemia, sideroblastic, 1;Refractory anemia with ringed sideroblasts (clinical)	RCV000392117;RCV000335834	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C4551511;300751;ORPHA75563;Human Phenotype Ontology;C1264195;ORPHA75564;109998009	criteria provided, single submitter	LD derived	rs34288981
Clinvar_Rec_6291	rs77064436	Likely pathogenic	Cutaneous melanoma	RCV000420898	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;C0025202	no assertion criteria provided	tagSNP	rs77064436
Clinvar_Rec_6292	rs121913417	Likely pathogenic	Cutaneous melanoma	RCV000431125	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;C0025202	no assertion criteria provided	tagSNP	rs121913417
Clinvar_Rec_6293	rs1553630102	other	Hepatoblastoma	RCV000505548	Human Phenotype Ontology;MedGen;Orphanet	HP;C0206624;ORPHA449	no assertion criteria provided	tagSNP	rs1553630102
Clinvar_Rec_6294	rs28931588	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Cutaneous melanoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000439366;RCV000437131;RCV000429774;RCV000430427;RCV000440025;RCV000419510;RCV000421744;RCV000429157;RCV000422380	MedGen;MeSH;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;D008545;C0025202;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs28931588
Clinvar_Rec_6295	rs28931588	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Endometrial neoplasm;Esophageal Squamous Cell Carcinoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000421306;RCV000432187;RCV000444118;RCV000441401;RCV000438971;RCV000432497;RCV000431551;RCV000425710;RCV000423696;RCV000444402	MedGen;MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;C0014170;MeSH;C0279626;ORPHA99977;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs28931588
Clinvar_Rec_6296	rs28931588	Pathogenic/Likely pathogenic, other	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Craniopharyngioma;Hepatoblastoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Pilomatrixoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000441036;RCV000418154;RCV000426162;RCV000019144;RCV000430774;RCV000426839;RCV000419388;RCV000437074;RCV000128842;RCV000438170;RCV000420526	MedGen;MeSH;MedGen;Orphanet;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;D003397;C0010276;ORPHA54595;Human Phenotype Ontology;C0206624;ORPHA449;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D018296;C0206711;132600;ORPHA91414;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs28931588
Clinvar_Rec_6297	rs121913396	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Cutaneous melanoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000439506;RCV000443906;RCV000421005;RCV000438648;RCV000428408;RCV000422917;RCV000433870;RCV000421851;RCV000429284	MedGen;MeSH;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;D008545;C0025202;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs121913396
Clinvar_Rec_6298	rs121913396	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Endometrial neoplasm;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000439390;RCV000436415;RCV000423474;RCV000418872;RCV000434746;RCV000429141;RCV000440497;RCV000422753;RCV000430242	MedGen;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;C0014170;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs121913396
Clinvar_Rec_6299	rs121913396	Pathogenic/Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Cutaneous melanoma;Hepatocellular carcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Pilomatrixoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	RCV000433199;RCV000443060;RCV000443883;RCV000437703;RCV000417687;RCV000435333;RCV000427896;RCV000019140;RCV000425010;RCV000427454;RCV000087199	MedGen;MeSH;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;D008545;C0025202;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D018296;C0206711;132600;ORPHA91414;Human Phenotype Ontology;C0279680;MeSH;CN236667;MedGen	no assertion criteria provided	tagSNP	rs121913396
Clinvar_Rec_6300	rs1057519886	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Neoplasm of the large intestine;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder	RCV000436119;RCV000433600;RCV000417825;RCV000435028;RCV000443305;RCV000426401;RCV000418863;RCV000434673;RCV000425263;RCV000442478;RCV000426101	MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MedGen;MedGen	C0007112;MedGen;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C0281361;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519886
Clinvar_Rec_6301	rs1057519886	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Neoplasm of the large intestine;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder	RCV000443586;RCV000439171;RCV000440476;RCV000441600;RCV000428518;RCV000433324;RCV000430905;RCV000424341;RCV000423241;RCV000433966;RCV000420132	MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MedGen;MedGen	C0007112;MedGen;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C0281361;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519886
Clinvar_Rec_6302	rs1057519886	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Neoplasm of the large intestine;Pancreatic adenocarcinoma;Transitional cell carcinoma of the bladder	RCV000424580;RCV000440157;RCV000431206;RCV000425706;RCV000437702;RCV000427045;RCV000432938;RCV000441880;RCV000420531;RCV000418116;RCV000435335	MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MedGen;MedGen	C0007112;MedGen;C0152018;ORPHA70482;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C0281361;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519886
Clinvar_Rec_6303	rs1553631848	other	Renal cell carcinoma, papillary, 1	RCV000505598	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	no assertion criteria provided	tagSNP	rs1553631848
Clinvar_Rec_6304	rs1553632352	Uncertain significance	Inborn genetic diseases	RCV000624574	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553632352
Clinvar_Rec_6305	rs139060322	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	RCV000527805	MedGen;OMIM	C3553813;614830	criteria provided, single submitter	tagSNP	rs139060322
Clinvar_Rec_6306	rs200535361	Conflicting interpretations of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8;not specified	RCV000549555;RCV000499560	MedGen;OMIM	C3553813;614830;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200535361
Clinvar_Rec_6307	rs886058480	Uncertain significance	Autosomal recessive cerebellar ataxia	RCV000291253	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	tagSNP	rs886058480
Clinvar_Rec_6308	rs377718797	Uncertain significance	Triglyceride storage disease with ichthyosis	RCV000299035	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	tagSNP	rs377718797
Clinvar_Rec_6309	rs752632573	Uncertain significance	Triglyceride storage disease with ichthyosis	RCV000267254	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	tagSNP	rs752632573
Clinvar_Rec_6310	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000343215	MedGen	CN239347	criteria provided, single submitter	LD derived	rs17635749
Clinvar_Rec_6311	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000354694	MedGen	CN239347	criteria provided, single submitter	LD derived	rs12508464
Clinvar_Rec_6312	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000328188	MedGen	CN239347	criteria provided, single submitter	LD derived	rs13150734
Clinvar_Rec_6313	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000281409	MedGen	CN239347	criteria provided, single submitter	LD derived	rs35683646
Clinvar_Rec_6314	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000393012	MedGen	CN239347	criteria provided, single submitter	LD derived	rs35610027
Clinvar_Rec_6315	rs66709509	Likely benign	Isolated GnRH Deficiency	RCV000351476	MedGen	CN239347	criteria provided, single submitter	LD derived	rs35845954
Clinvar_Rec_6316	rs6552111	Likely benign	Isolated GnRH Deficiency	RCV000386570	MedGen	CN239347	criteria provided, single submitter	LD derived	rs1038426
Clinvar_Rec_6317	rs6552111	Likely benign	Isolated GnRH Deficiency	RCV000290190	MedGen	CN239347	criteria provided, single submitter	LD derived	rs1038427
Clinvar_Rec_6318	rs6552111	Likely benign	Isolated GnRH Deficiency	RCV000381028	MedGen	CN239347	criteria provided, single submitter	LD derived	rs7666201
Clinvar_Rec_6319	rs6552111	Likely benign	Isolated GnRH Deficiency	RCV000338992	MedGen	CN239347	criteria provided, single submitter	LD derived	rs17635850
Clinvar_Rec_6320	rs150014419	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000376628;RCV000913261	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs140393165
Clinvar_Rec_6321	rs150014419	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000361180;RCV000913262	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs144100380
Clinvar_Rec_6322	rs562038139	Uncertain significance	Congenital hypothyroidism	RCV000366565	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	LD derived	rs556820857
Clinvar_Rec_6323	rs573919549	Uncertain significance	Cardiovascular phenotype;Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000618380;RCV000029789;RCV001034845;RCV000777718;RCV001034845;RCV000035286	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;Orphanet	CN230736;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs193922242
Clinvar_Rec_6324	rs397515866	Likely pathogenic	Marfan syndrome	RCV000035293	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs397515866
Clinvar_Rec_6325	rs1555393485	Uncertain significance	Cardiovascular phenotype	RCV000617627	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555393485
Clinvar_Rec_6326	rs748384979	Uncertain significance	Marfan syndrome	RCV000664026	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs748384979
Clinvar_Rec_6327	rs376119827	Benign/Likely benign	Connective tissue disease;not provided;not specified	RCV000659585;RCV000457337;RCV000428763	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376119827
Clinvar_Rec_6328	rs376119827	Uncertain significance	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2	RCV000765217;RCV000765217;RCV000765217;RCV000765217;RCV000765217;RCV000546431;RCV000765217;RCV000765217;RCV000546431;RCV000765217	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;OMIM;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;129600;MedGen;614185;MedGen;604308;ORPHA99715;MedGen;616914;ORPHA300382;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;608328;ORPHA2084	criteria provided, multiple submitters, no conflicts	tagSNP	rs376119827
Clinvar_Rec_6329	rs397515776	Likely pathogenic	Marfan syndrome	RCV000035146	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs397515776
Clinvar_Rec_6330	rs397515775	Pathogenic/Likely pathogenic	Marfan syndrome;not provided	RCV000035145;RCV000427032	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515775
Clinvar_Rec_6331	rs141600901	Benign/Likely benign	Seckel syndrome 5;not provided;not specified	RCV000024027;RCV000973527;RCV000368310	MedGen;OMIM	C3151187;613823;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141600901
Clinvar_Rec_6332	rs141600901	Conflicting interpretations of pathogenicity	Primary autosomal recessive microcephaly 9;not provided	RCV000145601;RCV000973528	MedGen;OMIM	C3553886;614852;MedGen	criteria provided, conflicting interpretations	LD derived	rs61737684
Clinvar_Rec_6333	rs587783423	Pathogenic	Primary autosomal recessive microcephaly 9	RCV000145622	MedGen;OMIM	C3553886;614852	criteria provided, single submitter	tagSNP	rs587783423
Clinvar_Rec_6334	rs587783420	Uncertain significance	Primary autosomal recessive microcephaly 9	RCV000145612	MedGen;OMIM	C3553886;614852	criteria provided, single submitter	tagSNP	rs587783420
Clinvar_Rec_6335	rs672601309	no interpretation for the single variant	Pituitary dependent hypercortisolism	RCV000149419	MedGen;OMIM;Orphanet;SNOMED CT	C0221406;219090;ORPHA96253;190502001	no interpretation for the single variant	tagSNP	rs672601309
Clinvar_Rec_6336	rs750256834	Uncertain significance	Amelogenesis Imperfecta, Recessive	RCV000369389	MedGen	CN239209	criteria provided, single submitter	tagSNP	rs750256834
Clinvar_Rec_6337	rs148668081	Uncertain significance	Neuronal ceroid lipofuscinosis;Seizures;not provided	RCV000823172;RCV000717283;RCV000187135	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0027877;214200;ORPHA216;42012007;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148668081
Clinvar_Rec_6338	rs1301388199	Uncertain significance	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	RCV000768187	MedGen;OMIM;Orphanet	C1864923;610003;ORPHA1947	criteria provided, single submitter	tagSNP	rs1301388199
Clinvar_Rec_6339	rs151334741	Uncertain significance	Neuronal ceroid lipofuscinosis;not provided	RCV000550094;RCV000519268	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs151334741
Clinvar_Rec_6340	rs1563114301	Uncertain significance	Seizures	RCV000720615	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1563114301
Clinvar_Rec_6341	rs587779411	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis	RCV000988030	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779411
Clinvar_Rec_6342	rs548329168	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;not provided;not specified	RCV000328196;RCV000930721;RCV000504368	MedGen	CN239428;MedGen	criteria provided, conflicting interpretations	tagSNP	rs548329168
Clinvar_Rec_6343	rs748011724	Pathogenic/Likely pathogenic	Primary autosomal recessive microcephaly 1;not provided	RCV000763602;RCV000712273	MedGen;OMIM;Orphanet	C1855081;251200;ORPHA52183;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748011724
Clinvar_Rec_6344	rs141218500	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 1;not provided	RCV000388768;RCV000146277;RCV000914780	MedGen;OMIM;Orphanet	CN239428;MedGen;251200;ORPHA52183;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141218500
Clinvar_Rec_6345	rs886063070	Uncertain significance	Primary Microcephaly, Recessive	RCV000365757	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886063070
Clinvar_Rec_6346	rs2433149	Likely benign	Primary Microcephaly, Recessive	RCV000271067	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs2433149
Clinvar_Rec_6347	rs56208331	Conflicting interpretations of pathogenicity	Atrial septal defect 2;Atrioventricular septal defect 4;Inborn genetic diseases;Pulmonary valve atresia;Pulmonic stenosis (disease);Tetralogy of Fallot;Tricuspid regurgitation;not provided	RCV000009600;RCV000988036;RCV000190715;RCV000626818;RCV000626818;RCV000009601;RCV000626818;RCV000431077	MedGen;OMIM;OMIM;MedGen;MedGen;MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C1842778;607941;MedGen;614430;MeSH;C0950123;Human Phenotype Ontology;C0242855;Human Phenotype Ontology;C1956257;265500;Human Phenotype Ontology;C0039685;187500;ORPHA3303;86299006;Human Phenotype Ontology;C0040961;MedGen	criteria provided, conflicting interpretations	tagSNP	rs56208331
Clinvar_Rec_6348	rs772619099	Uncertain significance	Cardiovascular phenotype	RCV000618473	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs772619099
Clinvar_Rec_6349	rs121908500	Pathogenic	Carcinoma of colon	RCV000006053	MedGen;OMIM;SNOMED CT	C0009402;114500;269533000	no assertion criteria provided	tagSNP	rs121908500
Clinvar_Rec_6350	rs886039236	Pathogenic	Cardiospondylocarpofacial syndrome	RCV000254567	MedGen;OMIM;Orphanet	C2931461;157800;ORPHA3238	no assertion criteria provided	tagSNP	rs886039236
Clinvar_Rec_6351	rs6684	Likely benign	Mitochondrial complex I deficiency;not provided;not specified	RCV000271558;RCV000676773;RCV000117707	MedGen	C2936907;MedGen	criteria provided, single submitter	tagSNP	rs6684
Clinvar_Rec_6352	rs886061830	Uncertain significance	Mitochondrial complex I deficiency	RCV000380202	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs886061830
Clinvar_Rec_6353	rs398123060	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000056329	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123060
Clinvar_Rec_6354	rs766278048	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000501674	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs766278048
Clinvar_Rec_6355	rs398123062	Likely pathogenic	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000056331	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs398123062
Clinvar_Rec_6356	rs143428179	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000503180	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs143428179
Clinvar_Rec_6357	rs1554215986	Pathogenic	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502558	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554215986
Clinvar_Rec_6358	rs748236641	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000503754	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs748236641
Clinvar_Rec_6359	rs764855095	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502708	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs764855095
Clinvar_Rec_6360	rs144468932	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000504094	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs144468932
Clinvar_Rec_6361	rs775383714	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500576	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs775383714
Clinvar_Rec_6362	rs776419278	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500156	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs776419278
Clinvar_Rec_6363	rs754001134	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502987	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs754001134
Clinvar_Rec_6364	rs750476761	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502484	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs750476761
Clinvar_Rec_6365	rs755971635	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500513	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs755971635
Clinvar_Rec_6366	rs775962308	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000499589	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs775962308
Clinvar_Rec_6367	rs199983343	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000501262	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs199983343
Clinvar_Rec_6368	rs757059942	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000504279	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs757059942
Clinvar_Rec_6369	rs778495863	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502208	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs778495863
Clinvar_Rec_6370	rs749635212	Conflicting interpretations of pathogenicity	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);not provided	RCV000502127;RCV000885031	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897;MedGen	criteria provided, conflicting interpretations	tagSNP	rs749635212
Clinvar_Rec_6371	rs771325698	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500643	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs771325698
Clinvar_Rec_6372	rs746000252	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502235	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs746000252
Clinvar_Rec_6373	rs772196265	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500154	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs772196265
Clinvar_Rec_6374	rs773041308	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);not provided	RCV000503341;RCV000676939	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897;MedGen	criteria provided, single submitter	tagSNP	rs773041308
Clinvar_Rec_6375	rs751232704	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000499759	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs751232704
Clinvar_Rec_6376	rs754532558	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502794	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs754532558
Clinvar_Rec_6377	rs1555057581	Pathogenic	Blepharocheilodontic syndrome 2	RCV000505753	MedGen;OMIM	C4540127;617681	no assertion criteria provided	tagSNP	rs1555057581
Clinvar_Rec_6378	rs587777014	Pathogenic/Likely pathogenic	Osteocraniostenosis	RCV000050213	MedGen;OMIM;Orphanet	C1865639;602361;ORPHA2763	no assertion criteria provided	tagSNP	rs587777014
Clinvar_Rec_6379	rs2832	Benign	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	RCV000399966;RCV000301645	MedGen;Orphanet;OMIM;Orphanet	C0342782;ORPHA35698;MedGen;245400;ORPHA17	criteria provided, single submitter	tagSNP	rs2832
Clinvar_Rec_6380	rs267607097	Pathogenic	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	RCV000001040	MedGen;OMIM;Orphanet	C3151476;245400;ORPHA17	no assertion criteria provided	tagSNP	rs267607097
Clinvar_Rec_6381	rs377381751	Uncertain significance	Vitamin K-Dependent Clotting Factors	RCV000278791	MedGen	CN239236	criteria provided, single submitter	tagSNP	rs377381751
Clinvar_Rec_6382	rs6751560	Likely benign	Vitamin K-Dependent Clotting Factors	RCV000288212	MedGen	CN239236	criteria provided, single submitter	tagSNP	rs6751560
Clinvar_Rec_6383	rs193077813	Uncertain significance	Salt and pepper developmental regression syndrome	RCV000386794	MedGen;OMIM;Orphanet;Orphanet	C1836824;609056;ORPHA171714;ORPHA370933	criteria provided, single submitter	tagSNP	rs193077813
Clinvar_Rec_6384	rs1558653854	Uncertain significance	Salt and pepper developmental regression syndrome	RCV000707302	MedGen;OMIM;Orphanet;Orphanet	C1836824;609056;ORPHA171714;ORPHA370933	criteria provided, single submitter	tagSNP	rs1558653854
Clinvar_Rec_6385	rs200270016	Uncertain significance	Wolcott-Rallison dysplasia	RCV000331627	MedGen;OMIM;Orphanet;SNOMED CT	C0432217;226980;ORPHA1667;254066006	criteria provided, single submitter	tagSNP	rs200270016
Clinvar_Rec_6386	rs398122883	Conflicting interpretations of pathogenicity	Holt-Oram syndrome;Loeys-Dietz syndrome 4	RCV000468724;RCV000030733	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0265264;142900;ORPHA392;19092004;MedGen;614816	criteria provided, conflicting interpretations	tagSNP	rs398122883
Clinvar_Rec_6387	rs991967	Benign	Loeys-Dietz syndrome	RCV000357212	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	tagSNP	rs991967
Clinvar_Rec_6388	rs991967	Benign	Loeys-Dietz syndrome	RCV000380602	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	LD derived	rs1418556
Clinvar_Rec_6389	rs991967	Benign	Loeys-Dietz syndrome	RCV000279927	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	LD derived	rs1046017
Clinvar_Rec_6390	rs991967	Benign	Loeys-Dietz syndrome	RCV000293683	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	LD derived	rs6704255
Clinvar_Rec_6391	rs991967	Benign	Loeys-Dietz syndrome	RCV000345179	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	LD derived	rs6683598
Clinvar_Rec_6392	rs886045983	Uncertain significance	Loeys-Dietz syndrome	RCV000312873	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	tagSNP	rs886045983
Clinvar_Rec_6393	rs1288116010	Pathogenic	LEUKODYSTROPHY, HYPOMYELINATING, 15	RCV000626406	MedGen;OMIM	C4693733;617951	no assertion criteria provided	tagSNP	rs1288116010
Clinvar_Rec_6394	rs200407685	Conflicting interpretations of pathogenicity	Cataract-intellectual disability-hypogonadism syndrome;Warburg micro syndrome;not specified	RCV000339952;RCV000390878;RCV000603055	MedGen;OMIM;Orphanet;Orphanet	C0796037;212720;ORPHA1387;MedGen;ORPHA2510;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200407685
Clinvar_Rec_6395	rs763764406	Uncertain significance	Cataract-intellectual disability-hypogonadism syndrome;Cataract-intellectual disability-hypogonadism syndrome;Warburg micro syndrome;Warburg micro syndrome 2	RCV000391809;RCV000999629;RCV000338576;RCV000999629	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet;OMIM	C0796037;212720;ORPHA1387;MedGen;212720;ORPHA1387;MedGen;ORPHA2510;MedGen;614225	criteria provided, single submitter	tagSNP	rs763764406
Clinvar_Rec_6396	rs876661336	Uncertain significance	Lobar holoprosencephaly	RCV000223857	Human Phenotype Ontology;MedGen;Orphanet	HP;C0431362;ORPHA93924	no assertion criteria provided	tagSNP	rs876661336
Clinvar_Rec_6397	rs749035153	Likely pathogenic	microform holoprosencephaly	RCV000223782	MedGen;Orphanet	CN236719;ORPHA280200	no assertion criteria provided	tagSNP	rs749035153
Clinvar_Rec_6398	rs149940427	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000647625;RCV000647625	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs149940427
Clinvar_Rec_6399	rs555355654	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000647629;RCV000647629	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	LD derived	rs373633207
Clinvar_Rec_6400	rs150266354	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000366132;RCV000308876	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs150266354
Clinvar_Rec_6401	rs4870097	Benign	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000393801;RCV000307999;RCV000993117;RCV000118437	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4645434
Clinvar_Rec_6402	rs4870097	Benign	Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified	RCV000987803;RCV000993114;RCV000243119	MedGen;OMIM;Orphanet	C1853116;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9478320
Clinvar_Rec_6403	rs1554237269	Pathogenic/Likely pathogenic	Coffin-Siris syndrome 1;not provided	RCV000501931;RCV000782033	MedGen;OMIM	C3281201;135900;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554237269
Clinvar_Rec_6404	rs1554237992	Pathogenic	Coffin-Siris syndrome 1	RCV000578385	MedGen;OMIM	C3281201;135900	criteria provided, single submitter	tagSNP	rs1554237992
Clinvar_Rec_6405	rs45484795	Benign	Ciliary dyskinesia, primary, 32	RCV000560508	MedGen;OMIM	C4225311;616481	criteria provided, single submitter	LD derived	rs12204826
Clinvar_Rec_6406	rs45484795	Benign	Ciliary dyskinesia, primary, 32	RCV000546633	MedGen;OMIM	C4225311;616481	criteria provided, single submitter	LD derived	rs10455840
Clinvar_Rec_6407	rs45484795	Benign	Ciliary dyskinesia, primary, 32	RCV000532917	MedGen;OMIM	C4225311;616481	criteria provided, single submitter	LD derived	rs34756688
Clinvar_Rec_6408	rs45484795	Benign	Ciliary dyskinesia, primary, 32	RCV000549057	MedGen;OMIM	C4225311;616481	criteria provided, single submitter	LD derived	rs41267757
Clinvar_Rec_6409	rs4880	drug response	Microvascular complications of diabetes 6;SUPEROXIDE DISMUTASE 2 POLYMORPHISM;cyclophosphamide response - Efficacy	RCV000015873;RCV000015872;RCV000211191	MedGen;OMIM	C2675128;612634;na;MedGen	reviewed by expert panel	tagSNP	rs4880
Clinvar_Rec_6410	rs68121389	Benign	Parkinson Disease, Juvenile	RCV000377590	MedGen	C0752105	criteria provided, single submitter	tagSNP	rs68121389
Clinvar_Rec_6411	rs1554846212	Likely pathogenic	Abnormal facial shape;Clubfoot;Cryptorchidism;Hypertelorism;Intellectual disability;Short distal phalanx of toe;Short nose;Spinal deformities;Tapered finger	RCV000626910;RCV000626910;RCV000626910;RCV000626910;RCV000626910;RCV000626910;RCV000626910;RCV000626910;RCV000626910	Human Phenotype Ontology;MedGen;MedGen;OMIM;MedGen;OMIM;MedGen;OMIM;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0424503;Human Phenotype Ontology;C0009081;119800;Human Phenotype Ontology;C0010417;219050;Human Phenotype Ontology;C0020534;145400;Human Phenotype Ontology;C1843367;Human Phenotype Ontology;C4021771;Human Phenotype Ontology;C1854114;Human Phenotype Ontology;C0575157;Human Phenotype Ontology;C0426886	criteria provided, single submitter	tagSNP	rs1554846212
Clinvar_Rec_6412	rs761825610	Uncertain significance	KAT6B-Related Spectrum Disorders	RCV000351404	MedGen	CN239406	criteria provided, single submitter	tagSNP	rs761825610
Clinvar_Rec_6413	rs745470061	Uncertain significance	Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome	RCV000767999;RCV000767999	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1863557;603736;ORPHA3047;MedGen;606170;ORPHA85201	criteria provided, single submitter	tagSNP	rs745470061
Clinvar_Rec_6414	rs1248039821	Likely pathogenic	Neonatal pseudo-hydrocephalic progeroid syndrome	RCV000754386	MedGen;OMIM;Orphanet;SNOMED CT	C0406586;264090;ORPHA3455;238874008	criteria provided, multiple submitters, no conflicts	tagSNP	rs1248039821
Clinvar_Rec_6415	rs1554841994	Pathogenic	Diamond-Blackfan anemia 3	RCV000664315	MedGen;OMIM	C1857719;610629	criteria provided, single submitter	tagSNP	rs1554841994
Clinvar_Rec_6416	rs886047335	Uncertain significance	Cone-Rod Dystrophy, Recessive	RCV000398647	MedGen	CN239309	criteria provided, single submitter	tagSNP	rs886047335
Clinvar_Rec_6417	rs886047338	Uncertain significance	Cone-Rod Dystrophy, Recessive	RCV000316715	MedGen	CN239309	criteria provided, single submitter	tagSNP	rs886047338
Clinvar_Rec_6418	rs794729058	Uncertain significance	Cardiovascular phenotype;not provided	RCV000617757;RCV000183519	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794729058
Clinvar_Rec_6419	rs1256130183	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575987	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1256130183
Clinvar_Rec_6420	rs1256130183	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564886	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1256130183
Clinvar_Rec_6421	rs1554891661	Uncertain significance	Juvenile polyposis syndrome	RCV000635487	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0345893;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, single submitter	tagSNP	rs1554891661
Clinvar_Rec_6422	rs531153431	Likely benign	Juvenile Polyposis	RCV000276012	MedGen	CN239474	criteria provided, single submitter	tagSNP	rs531153431
Clinvar_Rec_6423	rs551070922	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;not provided	RCV000213771;RCV000199134;RCV000589484	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen	criteria provided, conflicting interpretations	LD derived	rs576247658
Clinvar_Rec_6424	rs587780001	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV001019726;RCV000484836	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780001
Clinvar_Rec_6425	rs587780001	Likely benign	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;Seizures;not provided;not specified	RCV000115580;RCV000790889;RCV000781947;RCV000589059;RCV000252011	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;Human Phenotype Ontology;C0036572;MedGen	reviewed by expert panel	tagSNP	rs587780001
Clinvar_Rec_6426	rs1554890324	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	RCV000572416;RCV000706088	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498	criteria provided, conflicting interpretations	tagSNP	rs1554890324
Clinvar_Rec_6427	rs786204882	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000169823	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786204882
Clinvar_Rec_6428	rs1085308044	Pathogenic	PTEN hamartoma tumor syndrome	RCV000490596	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1085308044
Clinvar_Rec_6429	rs587781957	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000130333	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781957
Clinvar_Rec_6430	rs786201995	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000164570	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201995
Clinvar_Rec_6431	rs786201995	Pathogenic	Hereditary cancer-predisposing syndrome;Ovarian Neoplasms;not specified	RCV000165524;RCV000785578;RCV000678734	MedGen;Orphanet;SNOMED CT;MedGen	C0027672;ORPHA140162;699346009;MeSH;CN236629;MedGen	criteria provided, single submitter	tagSNP	rs786201995
Clinvar_Rec_6432	rs797044910	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	RCV000190739;RCV000234212	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498	criteria provided, multiple submitters, no conflicts	tagSNP	rs797044910
Clinvar_Rec_6433	rs1320222638	Likely benign	PTEN hamartoma tumor syndrome	RCV000548422	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1320222638
Clinvar_Rec_6434	rs1320222638	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575329	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1320222638
Clinvar_Rec_6435	rs786201506	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580950	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201506
Clinvar_Rec_6436	rs786201506	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000163772;RCV000553143;RCV000859605	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs786201506
Clinvar_Rec_6437	rs786204853	Uncertain significance	PTEN hamartoma tumor syndrome	RCV001065725	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs786204853
Clinvar_Rec_6438	rs768354874	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583794	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768354874
Clinvar_Rec_6439	rs1564814427	Pathogenic	PTEN hamartoma tumor syndrome	RCV000688461	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1564814427
Clinvar_Rec_6440	rs1170214930	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000549844	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1170214930
Clinvar_Rec_6441	rs1170214930	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000571617;RCV000605046	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1170214930
Clinvar_Rec_6442	rs1554893806	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563735	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554893806
Clinvar_Rec_6443	rs786204877	Likely benign	Cowden syndrome 1;Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided;not specified	RCV000409424;RCV000169818;RCV000710297;RCV000587583;RCV000244062	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	CN072330;158350;MedGen;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs786204877
Clinvar_Rec_6444	rs1554897240	Likely pathogenic	PTEN hamartoma tumor syndrome	RCV000527800	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1554897240
Clinvar_Rec_6445	rs898943632	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000584334;RCV000441690	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs898943632
Clinvar_Rec_6446	rs572375431	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000579739;RCV000476308;RCV000606674	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs572375431
Clinvar_Rec_6447	rs1554897249	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000571186	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554897249
Clinvar_Rec_6448	rs786203847	Pathogenic	Cowden syndrome 1	RCV000516009	MedGen;OMIM	CN072330;158350	no assertion criteria provided	tagSNP	rs786203847
Clinvar_Rec_6449	rs786203847	Likely pathogenic	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000167333;RCV000710306;RCV000212879	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs786203847
Clinvar_Rec_6450	rs1564826791	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000691048	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1564826791
Clinvar_Rec_6451	rs1060503841	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000580574;RCV000464638;RCV000482827	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503841
Clinvar_Rec_6452	rs766570103	Likely benign	Cowden syndrome 1;not provided	RCV000663280;RCV000827092	MedGen;OMIM	CN072330;158350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766570103
Clinvar_Rec_6453	rs781542973	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000568164;RCV000532574;RCV000423305	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs781542973
Clinvar_Rec_6454	rs1554897867	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574338	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554897867
Clinvar_Rec_6455	rs755953294	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575354	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs755953294
Clinvar_Rec_6456	rs755953294	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575630;RCV000645089	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs755953294
Clinvar_Rec_6457	rs1057520819	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000775894;RCV000426745	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520819
Clinvar_Rec_6458	rs1554898067	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000560404	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1554898067
Clinvar_Rec_6459	rs1114167623	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000491753	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167623
Clinvar_Rec_6460	rs1114167623	Likely pathogenic	PTEN hamartoma tumor syndrome	RCV000685656	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1114167623
Clinvar_Rec_6461	rs786204927	Likely pathogenic	Large for gestational age;Loss of consciousness;Macrocephalus	RCV000626659;RCV000626659;RCV000626659	Human Phenotype Ontology;MedGen;MedGen;MedGen	HP;C1848395;Human Phenotype Ontology;C0041657;Human Phenotype Ontology;C2243051	criteria provided, single submitter	tagSNP	rs786204927
Clinvar_Rec_6462	rs587782641	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000583240	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782641
Clinvar_Rec_6463	rs587782641	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000132034;RCV000710296;RCV000178757	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs587782641
Clinvar_Rec_6464	rs786202944	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000166019;RCV000790899;RCV000178756	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs786202944
Clinvar_Rec_6465	rs1060500111	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000472967	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1060500111
Clinvar_Rec_6466	rs1114167629	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491661	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167629
Clinvar_Rec_6467	rs1114167629	Pathogenic	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	RCV000491715;RCV000537933	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167629
Clinvar_Rec_6468	rs1564830054	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775322	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1564830054
Clinvar_Rec_6469	rs1114167651	Likely benign	Hereditary cancer-predisposing syndrome	RCV000491941	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167651
Clinvar_Rec_6470	rs121913292	Pathogenic	Cowden syndrome 1	RCV000172822	MedGen;OMIM	CN072330;158350	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913292
Clinvar_Rec_6471	rs121909229	Pathogenic/Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Glioblastoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of the breast;Neoplasm of the large intestine;Renal cell carcinoma, papillary, 1;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Uterine Carcinosarcoma;Uterine cervical neoplasms;not provided	RCV000434449;RCV000443701;RCV000443776;RCV000490825;RCV000440004;RCV000427024;RCV000439348;RCV000419474;RCV000421727;RCV000424192;RCV000429105;RCV000422329;RCV000429740;RCV000431964;RCV000482735	MedGen;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;Orphanet;MedGen	C0007112;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA140162;699346009;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;MedGen;ORPHA213610;MeSH;CN236667;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121909229
Clinvar_Rec_6472	rs121909229	Pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Cowden syndrome 1;Glioblastoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;PTEN hamartoma tumor syndrome;Renal cell carcinoma, papillary, 1;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Uterine Carcinosarcoma;Uterine cervical neoplasms;not provided	RCV000420647;RCV000422627;RCV000008275;RCV000435236;RCV000131067;RCV000421074;RCV000432862;RCV000419778;RCV000429175;RCV000420485;RCV000427853;RCV000178761;RCV000438720;RCV000439397;RCV000440076;RCV000437651;RCV000432211;RCV000429864;RCV000212880	MedGen;OMIM;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;Orphanet;MedGen	C0007112;MedGen;158350;MeSH;C0017636;ORPHA360;63634009;MedGen;ORPHA140162;699346009;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009369;C0027651;108369006;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;601728;ORPHA306498;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;MedGen;ORPHA213610;MeSH;CN236667;MedGen	reviewed by expert panel	tagSNP	rs121909229
Clinvar_Rec_6473	rs121909229	Conflicting interpretations of pathogenicity	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Glioblastoma;Hereditary cancer-predisposing syndrome;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of the breast;Neoplasm of the large intestine;PTEN hamartoma tumor syndrome;Renal cell carcinoma, papillary, 1;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Uterine Carcinosarcoma;Uterine cervical neoplasms	RCV000418980;RCV000443617;RCV000438856;RCV000130803;RCV000418382;RCV000437255;RCV000428635;RCV000436686;RCV000532163;RCV000435997;RCV000427982;RCV000426378;RCV000441753;RCV000421218;RCV000429247	MedGen;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;Orphanet;MedGen	C0007112;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA140162;699346009;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;601728;ORPHA306498;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;MedGen;ORPHA213610;MeSH;CN236667	criteria provided, conflicting interpretations	tagSNP	rs121909229
Clinvar_Rec_6474	rs397514560	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000570629	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs397514560
Clinvar_Rec_6475	rs397514560	Pathogenic	Macrocephaly/autism syndrome;PTEN hamartoma tumor syndrome	RCV000032873;RCV000758224	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1854416;605309;ORPHA210548;MedGen;601728;ORPHA306498	reviewed by expert panel	tagSNP	rs397514560
Clinvar_Rec_6476	rs1057519724	Likely pathogenic	Neoplasm of the breast;Neoplasm of the large intestine;PTEN hamartoma tumor syndrome	RCV000444191;RCV000427363;RCV000790886	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;OMIM;Orphanet	HP;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;601728;ORPHA306498	reviewed by expert panel	tagSNP	rs1057519724
Clinvar_Rec_6477	rs1060500128	Uncertain significance	PTEN hamartoma tumor syndrome;not specified	RCV000469145;RCV000505947	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060500128
Clinvar_Rec_6478	rs869312777	Likely pathogenic	Cowden syndrome	RCV000210132	MedGen;Orphanet;SNOMED CT	C0018553;ORPHA201;58037000	criteria provided, single submitter	tagSNP	rs869312777
Clinvar_Rec_6479	rs1564566726	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000716162	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1564566726
Clinvar_Rec_6480	rs1554825249	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000572870	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554825249
Clinvar_Rec_6481	rs763784377	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583202	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763784377
Clinvar_Rec_6482	rs863224667	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000564655;RCV000196129;RCV000587165	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224667
Clinvar_Rec_6483	rs1114167638	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491907	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167638
Clinvar_Rec_6484	rs1564570409	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000698513	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1564570409
Clinvar_Rec_6485	rs35979531	Likely benign	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided;not specified	RCV000162364;RCV000232250;RCV000759324;RCV000153792	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs35979531
Clinvar_Rec_6486	rs35979531	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000164693;RCV000180491	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35979531
Clinvar_Rec_6487	rs587782224	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV000130915;RCV000556721;RCV000486316	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782224
Clinvar_Rec_6488	rs1554826049	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome	RCV000562349;RCV001042817	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554826049
Clinvar_Rec_6489	rs786203911	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided;not specified	RCV000167422;RCV000538790;RCV000585009;RCV000212888	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	reviewed by expert panel	tagSNP	rs786203911
Clinvar_Rec_6490	rs1064796017	Uncertain significance	Hereditary cancer-predisposing syndrome;PTEN hamartoma tumor syndrome;not provided	RCV001010303;RCV000701845;RCV000480141	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;601728;ORPHA306498;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064796017
Clinvar_Rec_6491	rs754986111	Uncertain significance	Autoimmune lymphoproliferative syndrome	RCV000407837	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	tagSNP	rs754986111
Clinvar_Rec_6492	rs369028997	Uncertain significance	Wolman disease	RCV000262247	MedGen;Orphanet	CN438428;ORPHA75233	criteria provided, single submitter	LD derived	rs115320174
Clinvar_Rec_6493	rs369028997	Conflicting interpretations of pathogenicity	Wolman disease;not provided;not specified	RCV000369048;RCV000675913;RCV000173660	MedGen;Orphanet	CN438428;ORPHA75233;MedGen	criteria provided, conflicting interpretations	LD derived	rs116827211
Clinvar_Rec_6494	rs146148229	Uncertain significance	Wolman disease	RCV000262247	MedGen;Orphanet	CN438428;ORPHA75233	criteria provided, single submitter	LD derived	rs115320174
Clinvar_Rec_6495	rs146148229	Conflicting interpretations of pathogenicity	Wolman disease;not provided;not specified	RCV000369048;RCV000675913;RCV000173660	MedGen;Orphanet	CN438428;ORPHA75233;MedGen	criteria provided, conflicting interpretations	LD derived	rs116827211
Clinvar_Rec_6496	rs147707348	Conflicting interpretations of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000287588;RCV000882202;RCV000594107	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147707348
Clinvar_Rec_6497	rs146980377	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000342902	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs146980377
Clinvar_Rec_6498	rs182433686	Conflicting interpretations of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger);not provided	RCV000291250;RCV000592320	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, conflicting interpretations	LD derived	rs201699810
Clinvar_Rec_6499	rs377666612	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000357742	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs377666612
Clinvar_Rec_6500	rs76328738	Benign/Likely benign	Methylmalonic acidemia;Methylmalonyl-CoA epimerase deficiency;not specified	RCV000328756;RCV000526779;RCV000440015	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;OMIM;Orphanet	HP;C537358;C0268583;42393006;MedGen;251120;ORPHA308425;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115175255
Clinvar_Rec_6501	rs755878397	Uncertain significance	Dystonia, dopa-responsive	RCV000354627	MedGen	CN221588	criteria provided, single submitter	tagSNP	rs755878397
Clinvar_Rec_6502	rs587776777	Pathogenic	Dopa-responsive dystonia due to sepiapterin reductase deficiency	RCV000013803	MedGen;OMIM;Orphanet;SNOMED CT	C0268468;612716;ORPHA70594;45116002	no assertion criteria provided	tagSNP	rs587776777
Clinvar_Rec_6503	rs375830111	Uncertain significance	Alstrom syndrome	RCV000668690	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs375830111
Clinvar_Rec_6504	rs376750978	Uncertain significance	Alstrom syndrome	RCV000557770	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs376750978
Clinvar_Rec_6505	rs376750978	Uncertain significance	Alstrom syndrome	RCV000705088	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs376750978
Clinvar_Rec_6506	rs372610345	Likely benign	Alstrom syndrome;not provided	RCV000672533;RCV000940104	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372610345
Clinvar_Rec_6507	rs374151754	Likely benign	Alstrom syndrome	RCV000665557	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs374151754
Clinvar_Rec_6508	rs201804994	Uncertain significance	Alstrom syndrome;not specified	RCV000234517;RCV000435375	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201804994
Clinvar_Rec_6509	rs200535382	Likely benign	Alstrom syndrome	RCV000462378	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs200535382
Clinvar_Rec_6510	rs200535382	Likely benign	Alstrom syndrome;not provided	RCV000228356;RCV000840859	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200535382
Clinvar_Rec_6511	rs886056301	Uncertain significance	Alstrom syndrome	RCV000371767	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs886056301
Clinvar_Rec_6512	rs878854997	Uncertain significance	Alstrom syndrome	RCV000232193	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs878854997
Clinvar_Rec_6513	rs754758293	Likely benign	Alstrom syndrome;not specified	RCV000664696;RCV000615399	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754758293
Clinvar_Rec_6514	rs773630367	Uncertain significance	Alstrom syndrome	RCV000691798	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs773630367
Clinvar_Rec_6515	rs886038612	Benign	Alstrom syndrome;not specified	RCV000386702;RCV000250910	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886038612
Clinvar_Rec_6516	rs1553403851	Likely pathogenic	Alstrom syndrome	RCV000666481	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553403851
Clinvar_Rec_6517	rs1558649606	Uncertain significance	Alstrom syndrome	RCV000687854	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1558649606
Clinvar_Rec_6518	rs371708421	Likely benign	Alstrom syndrome	RCV000670076	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs371708421
Clinvar_Rec_6519	rs1553403951	Likely benign	Alstrom syndrome	RCV000524629	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553403951
Clinvar_Rec_6520	rs28730853	Benign	Monogenic diabetes;not provided;not specified	RCV000445426;RCV000710532;RCV000443791	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28730853
Clinvar_Rec_6521	rs370735089	Uncertain significance	Alstrom syndrome	RCV000669942	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs370735089
Clinvar_Rec_6522	rs369656698	Uncertain significance	Alstrom syndrome	RCV000672358	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs369656698
Clinvar_Rec_6523	rs373489525	Uncertain significance	Alstrom syndrome	RCV000666114	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs373489525
Clinvar_Rec_6524	rs545488125	Uncertain significance	Alstrom syndrome	RCV000664702	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs545488125
Clinvar_Rec_6525	rs376161519	Uncertain significance	Alstrom syndrome	RCV000672086	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs376161519
Clinvar_Rec_6526	rs886056305	Uncertain significance	Alstrom syndrome	RCV000343648	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs886056305
Clinvar_Rec_6527	rs369011755	Uncertain significance	Alstrom syndrome	RCV000666924	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs369011755
Clinvar_Rec_6528	rs886056308	Uncertain significance	Alstrom syndrome	RCV000358463	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs886056308
Clinvar_Rec_6529	rs200368564	Conflicting interpretations of pathogenicity	Monogenic diabetes;not provided	RCV000445488;RCV000421757	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200368564
Clinvar_Rec_6530	rs771800459	Uncertain significance	Alstrom syndrome;not specified	RCV000689998;RCV000735888	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771800459
Clinvar_Rec_6531	rs377360750	Uncertain significance	Alstrom syndrome;not provided	RCV000546991;RCV000480373	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377360750
Clinvar_Rec_6532	rs1553404252	Likely pathogenic	Alstrom syndrome	RCV000673178	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553404252
Clinvar_Rec_6533	rs371544118	Uncertain significance	Alstrom syndrome	RCV000672517	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs371544118
Clinvar_Rec_6534	rs367656336	Uncertain significance	Alstrom syndrome	RCV000557119	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, multiple submitters, no conflicts	tagSNP	rs367656336
Clinvar_Rec_6535	rs200724860	Uncertain significance	Alstrom syndrome	RCV000664517	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs200724860
Clinvar_Rec_6536	rs1553404377	Likely pathogenic	Alstrom syndrome	RCV000666693	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553404377
Clinvar_Rec_6537	rs1553404408	Uncertain significance	Alstrom syndrome	RCV000560316	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553404408
Clinvar_Rec_6538	rs368310126	Uncertain significance	Alstrom syndrome	RCV000671047	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs368310126
Clinvar_Rec_6539	rs200470452	Uncertain significance	Alstrom syndrome	RCV000672885	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs200470452
Clinvar_Rec_6540	rs1553404423	Likely pathogenic	Alstrom syndrome	RCV000674469	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553404423
Clinvar_Rec_6541	rs866357733	Uncertain significance	Alstrom syndrome	RCV000664940	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs866357733
Clinvar_Rec_6542	rs994637726	Uncertain significance	Alstrom syndrome	RCV000672635	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs994637726
Clinvar_Rec_6543	rs886056311	Uncertain significance	Alstrom syndrome	RCV000260235	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs886056311
Clinvar_Rec_6544	rs1400122858	Uncertain significance	Alstrom syndrome	RCV000666164	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1400122858
Clinvar_Rec_6545	rs894421376	Uncertain significance	Alstrom syndrome	RCV000634807	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs894421376
Clinvar_Rec_6546	rs572076002	Likely benign	Alstrom syndrome	RCV000669482	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	LD derived	rs201471551
Clinvar_Rec_6547	rs572076002	Likely benign	Alstrom syndrome	RCV000674748	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	LD derived	rs201471551
Clinvar_Rec_6548	rs572076002	Likely benign	Alstrom syndrome	RCV000668277	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	LD derived	rs201316401
Clinvar_Rec_6549	rs572076002	Uncertain significance	Alstrom syndrome	RCV000669480	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	LD derived	rs187132771
Clinvar_Rec_6550	rs572076002	Uncertain significance	Alstrom syndrome	RCV000668361	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	LD derived	rs146669152
Clinvar_Rec_6551	rs572076002	Uncertain significance	Alstrom syndrome	RCV000669481	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, multiple submitters, no conflicts	LD derived	rs200378498
Clinvar_Rec_6552	rs754078506	Uncertain significance	Alstrom syndrome	RCV000665141	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs754078506
Clinvar_Rec_6553	rs756042345	Uncertain significance	Alstrom syndrome	RCV000542497	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs756042345
Clinvar_Rec_6554	rs565373304	Conflicting interpretations of pathogenicity	Mitochondrial DNA depletion syndrome;not provided;not specified	RCV000311088;RCV000726891;RCV000199079	MedGen;Orphanet	C0342782;ORPHA35698;MedGen	criteria provided, conflicting interpretations	LD derived	rs370071744
Clinvar_Rec_6555	rs35062203	Benign/Likely benign	Monogenic diabetes;not provided;not specified	RCV000445518;RCV000224531;RCV000434271	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35062203
Clinvar_Rec_6556	rs759559244	Likely benign	Alstrom syndrome	RCV000671295	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs759559244
Clinvar_Rec_6557	rs34398445	Benign/Likely benign	Monogenic diabetes;not provided;not specified	RCV000445397;RCV000434583;RCV000438106	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34398445
Clinvar_Rec_6558	rs750128969	Uncertain significance	Alstrom syndrome	RCV000665171	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs750128969
Clinvar_Rec_6559	rs1553418457	Likely pathogenic	Alstrom syndrome	RCV000672208	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1553418457
Clinvar_Rec_6560	rs387906312	Pathogenic	Alstrom syndrome;Retinal dystrophy;not provided	RCV000004177;RCV001075440;RCV000726756	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906312
Clinvar_Rec_6561	rs368957150	Uncertain significance	Alstrom syndrome;Monogenic diabetes	RCV000670980;RCV000445416	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	C0268425;203800;ORPHA64;63702009;MedGen;ORPHA183625	criteria provided, multiple submitters, no conflicts	tagSNP	rs368957150
Clinvar_Rec_6562	rs886070472	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000644461;RCV000644461;RCV000644461	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs886070472
Clinvar_Rec_6563	rs1558935430	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000706004;RCV000706004;RCV000706004	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs1558935430
Clinvar_Rec_6564	rs1553464927	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000536925;RCV000536925;RCV000536925	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs1553464927
Clinvar_Rec_6565	rs13429423	Benign	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy;Distal hereditary motor neuronopathy type 7B;Perry syndrome;Perry syndrome;not specified	RCV000529041;RCV000302441;RCV000529041;RCV000359635;RCV000529041;RCV000242537	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509;MedGen;168605;ORPHA178509;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs13429423
Clinvar_Rec_6566	rs886056330	Uncertain significance	Distal hereditary motor neuronopathy;Perry syndrome	RCV000371599;RCV000260414	MedGen;OMIM;Orphanet	CN169884;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs886056330
Clinvar_Rec_6567	rs886056331	Uncertain significance	Distal hereditary motor neuronopathy;Perry syndrome	RCV000375142;RCV000317956	MedGen;OMIM;Orphanet	CN169884;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs886056331
Clinvar_Rec_6568	rs1558941192	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000698375;RCV000698375;RCV000698375	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs1558941192
Clinvar_Rec_6569	rs72466486	Pathogenic	Perry syndrome	RCV000020578	MedGen;OMIM;Orphanet	C1868594;168605;ORPHA178509	no assertion criteria provided	tagSNP	rs72466486
Clinvar_Rec_6570	rs67586389	Pathogenic	Perry syndrome	RCV000020576	MedGen;OMIM;Orphanet	C1868594;168605;ORPHA178509	no assertion criteria provided	tagSNP	rs67586389
Clinvar_Rec_6571	rs67586389	Pathogenic	Perry syndrome	RCV000020577	MedGen;OMIM;Orphanet	C1868594;168605;ORPHA178509	no assertion criteria provided	tagSNP	rs67586389
Clinvar_Rec_6572	rs1558564232	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000694853	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, single submitter	tagSNP	rs1558564232
Clinvar_Rec_6573	rs368859958	Uncertain significance	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2B;not provided	RCV000325998;RCV000793120;RCV000178268	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;606056;ORPHA79330;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368859958
Clinvar_Rec_6574	rs200508287	Likely benign	Congenital disorder of glycosylation type 2B;not provided	RCV001001880;RCV000534518	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200508287
Clinvar_Rec_6575	rs781096789	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000641713	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, single submitter	tagSNP	rs781096789
Clinvar_Rec_6576	rs200888878	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000641718	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, multiple submitters, no conflicts	tagSNP	rs200888878
Clinvar_Rec_6577	rs371692461	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000695612	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, single submitter	tagSNP	rs371692461
Clinvar_Rec_6578	rs368536824	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000641720	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, single submitter	tagSNP	rs368536824
Clinvar_Rec_6579	rs1558565949	Uncertain significance	Congenital disorder of glycosylation type 2B	RCV000695292	MedGen;OMIM;Orphanet	C1853736;606056;ORPHA79330	criteria provided, single submitter	tagSNP	rs1558565949
Clinvar_Rec_6580	rs17009955	Benign/Likely benign	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2B;not provided;not specified	RCV000364379;RCV000552283;RCV000422691;RCV000440738	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;606056;ORPHA79330;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35533773
Clinvar_Rec_6581	rs79220020	Likely benign	Parkinson Disease, Dominant	RCV000382529	MedGen	CN239359	criteria provided, single submitter	tagSNP	rs79220020
Clinvar_Rec_6582	rs114661282	Likely benign	Parkinson Disease, Dominant	RCV000376027	MedGen	CN239359	criteria provided, single submitter	tagSNP	rs114661282
Clinvar_Rec_6583	rs201562844	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000260497	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs201562844
Clinvar_Rec_6584	rs121434482	Pathogenic	Lissencephaly due to LIS1 mutation	RCV000008540	MedGen;OMIM;Orphanet	C0431375;607432;ORPHA95232	no assertion criteria provided	tagSNP	rs121434482
Clinvar_Rec_6585	rs16952324	Benign	Lissencephaly/Subcortical Band Heterotopia	RCV000339204	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs16952324
Clinvar_Rec_6586	rs767681103	Uncertain significance	Lissencephaly/Subcortical Band Heterotopia	RCV000369512	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs767681103
Clinvar_Rec_6587	rs746353611	Uncertain significance	Lissencephaly/Subcortical Band Heterotopia	RCV000321965	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs746353611
Clinvar_Rec_6588	rs886052735	Uncertain significance	Lissencephaly/Subcortical Band Heterotopia	RCV000387543	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs886052735
Clinvar_Rec_6589	rs879255615	Likely pathogenic	Cystinosis;Nephropathic cystinosis	RCV000239704;RCV000672038	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	tagSNP	rs879255615
Clinvar_Rec_6590	rs550254092	Pathogenic/Likely pathogenic	Cystinosis;Nephropathic cystinosis	RCV000258034;RCV000989680	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, multiple submitters, no conflicts	tagSNP	rs550254092
Clinvar_Rec_6591	rs745365232	Pathogenic	Nephropathic cystinosis	RCV000409104	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs745365232
Clinvar_Rec_6592	rs1555563446	Uncertain significance	Nephropathic cystinosis	RCV000674853	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs1555563446
Clinvar_Rec_6593	rs161400	Benign	Cystinosis;Nephropathic cystinosis;not provided;not specified	RCV000380229;RCV000339531;RCV000675697;RCV000248355	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs161400
Clinvar_Rec_6594	rs762561354	Uncertain significance	Cystinosis;Nephropathic cystinosis	RCV000370675;RCV000311462	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	tagSNP	rs762561354
Clinvar_Rec_6595	rs560868487	Uncertain significance	Juvenile nephropathic cystinosis;Nephropathic cystinosis;Ocular cystinosis	RCV000696407;RCV000696407;RCV000696407	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	C0268626;219900;ORPHA411634;22830006;MedGen;219800;MedGen;219750;ORPHA411641	criteria provided, single submitter	tagSNP	rs560868487
Clinvar_Rec_6596	rs74629411	Likely benign	Cystinosis;Nephropathic cystinosis	RCV000300170;RCV000261257	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	LD derived	rs77196744
Clinvar_Rec_6597	rs564290828	Uncertain significance	Cystinosis;Nephropathic cystinosis	RCV000273768;RCV000331508	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	LD derived	rs548531950
Clinvar_Rec_6598	rs116802199	Likely benign	Congenital Myasthenic Syndrome, Dominant/Recessive	RCV000286732	MedGen	CN239246	criteria provided, single submitter	tagSNP	rs116802199
Clinvar_Rec_6599	rs372592554	Conflicting interpretations of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency;not specified	RCV000398787;RCV000434907	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372592554
Clinvar_Rec_6600	rs786204713	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency;not provided	RCV000169528;RCV000724267	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204713
Clinvar_Rec_6601	rs1555528796	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000531461	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555528796
Clinvar_Rec_6602	rs1555528957	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000545827	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555528957
Clinvar_Rec_6603	rs369847025	Uncertain significance	Myasthenic syndrome, congenital, 2a, slow-channel	RCV000696820	MedGen;OMIM	C4225374;616313	criteria provided, single submitter	tagSNP	rs369847025
Clinvar_Rec_6604	rs79747991	Conflicting interpretations of pathogenicity	Congenital Myasthenic Syndrome, Dominant/Recessive;not specified	RCV000332994;RCV000245684	MedGen	CN239246;MedGen	criteria provided, conflicting interpretations	tagSNP	rs79747991
Clinvar_Rec_6605	rs886053500	Uncertain significance	Li-Fraumeni syndrome	RCV000295383	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs886053500
Clinvar_Rec_6606	rs1555524074	Uncertain significance	Li-Fraumeni syndrome	RCV000551312	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1555524074
Clinvar_Rec_6607	rs1555524079	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573419	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555524079
Clinvar_Rec_6608	rs1555524083	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	RCV001010143;RCV000536567	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555524083
Clinvar_Rec_6609	rs1192921623	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584379	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1192921623
Clinvar_Rec_6610	rs1567540133	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773751	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567540133
Clinvar_Rec_6611	rs1555524094	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561658	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555524094
Clinvar_Rec_6612	rs1060501196	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;not provided	RCV000566404;RCV000462881;RCV000662831;RCV000986047	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501196
Clinvar_Rec_6613	rs1060501196	Uncertain significance	Li-Fraumeni syndrome	RCV000548129	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1060501196
Clinvar_Rec_6614	rs150842067	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001017468;RCV000759368	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150842067
Clinvar_Rec_6615	rs1567540280	Uncertain significance	Li-Fraumeni syndrome	RCV000690251	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1567540280
Clinvar_Rec_6616	rs1567540533	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773665	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567540533
Clinvar_Rec_6617	rs768046010	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562474	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768046010
Clinvar_Rec_6618	rs1131691027	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492443	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131691027
Clinvar_Rec_6619	rs28934574	Pathogenic/Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Astrocytoma, anaplastic;Carcinoma of esophagus;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Li-Fraumeni-like syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Pleomorphic xanthoastrocytoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;not provided	RCV000426680;RCV000435581;RCV000722016;RCV000436175;RCV000422920;RCV000431084;RCV000210145;RCV000148905;RCV000144670;RCV000013161;RCV000437607;RCV000420798;RCV000444687;RCV000444544;RCV000433225;RCV000430759;RCV000417906;RCV000785546;RCV000425909;RCV000434706;RCV000722016;RCV000442231;RCV000441472;RCV000424430;RCV000423580;RCV000432561;RCV000236400	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen	C0007112;MedGen;ORPHA251589;55353007;Human Phenotype Ontology;C0152018;ORPHA70482;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MedGen;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;CN236629;MedGen;C0281361;MedGen;ORPHA251607;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934574
Clinvar_Rec_6620	rs28934574	Pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder	RCV000430047;RCV000431764;RCV000422747;RCV000425179;RCV000427647;RCV000129010;RCV000422134;RCV000440446;RCV000430393;RCV000419993;RCV000437219;RCV000445294;RCV000419333;RCV000785299;RCV000442627;RCV000422367;RCV000440653;RCV000442540;RCV000435503;RCV000432433;RCV000437895	MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen	C0007112;MedGen;C0152018;ORPHA70482;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;CN236629;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680	criteria provided, single submitter	tagSNP	rs28934574
Clinvar_Rec_6621	rs1555525226	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000570263	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555525226
Clinvar_Rec_6622	rs1567547661	Pathogenic	Li-Fraumeni syndrome	RCV000691758	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1567547661
Clinvar_Rec_6623	rs1057519984	Uncertain significance	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000443254;RCV000430695;RCV000431703;RCV000438151;RCV000633352;RCV000424389;RCV000422083;RCV000432958;RCV000440974;RCV000420516;RCV000430093;RCV000785286;RCV000417671;RCV000440370;RCV000432322;RCV000443165;RCV000422714;RCV000439711;RCV000419836;RCV000424902	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MeSH;CN236629;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs1057519984
Clinvar_Rec_6624	rs1057519984	Uncertain significance	Carcinoma of colon;Li-Fraumeni syndrome;Ovarian Neoplasms;not provided	RCV000499361;RCV000470818;RCV000785325;RCV000658764	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT;MedGen	C0009402;114500;269533000;MedGen;ORPHA524;428850001;MeSH;CN236629;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057519984
Clinvar_Rec_6625	rs587781525	Likely pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000419849;RCV000435611;RCV000440602;RCV000424893;RCV000425979;RCV000440361;RCV000438210;RCV000429708;RCV000420104;RCV000433406;RCV000443934;RCV000430790;RCV000435784;RCV000422679;RCV000427537;RCV000442214;RCV000442965;RCV000417517	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	no assertion criteria provided	tagSNP	rs587781525
Clinvar_Rec_6626	rs587781525	Pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000418257;RCV000441016;RCV000434395;RCV000442813;RCV000129516;RCV000633367;RCV000433596;RCV000429146;RCV000418481;RCV000423959;RCV000436592;RCV000425885;RCV000436807;RCV000438583;RCV000431187;RCV000426980;RCV000435472;RCV000423760;RCV000428043;RCV000442068	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781525
Clinvar_Rec_6627	rs587781525	Pathogenic/Likely pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	RCV000438736;RCV000417569;RCV000423894;RCV000443096;RCV000215048;RCV000799325;RCV000431328;RCV000433464;RCV000440916;RCV000432892;RCV000435739;RCV000441595;RCV000423186;RCV000426125;RCV000434194;RCV000435682;RCV000428503;RCV000442104;RCV000425401;RCV000418100;RCV000161072	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781525
Clinvar_Rec_6628	rs764146326	Pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000431847;RCV000419187;RCV000438115;RCV000437480;RCV000792342;RCV000429763;RCV000440017;RCV000442319;RCV000427237;RCV000422382;RCV000442636;RCV000432647;RCV000424398;RCV000430133;RCV000422971;RCV000436876;RCV000419880;RCV000421597;RCV000443331	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs764146326
Clinvar_Rec_6629	rs764146326	Pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000426180;RCV000424002;RCV000426863;RCV000421233;RCV000824609;RCV000443405;RCV000428968;RCV000442054;RCV000418705;RCV000429505;RCV000422096;RCV000785452;RCV000434267;RCV000436424;RCV000439749;RCV000443489;RCV000428837;RCV000438896;RCV000431489;RCV000437075	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MeSH;CN236629;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs764146326
Clinvar_Rec_6630	rs764146326	Likely pathogenic	Adenocarcinoma of stomach;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of the breast;Neuroblastoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000429459;RCV000428355;RCV000443566;RCV000439212;RCV000434610;RCV000420094;RCV000437082;RCV000422034;RCV000438193;RCV000421295;RCV000427507;RCV000439019;RCV000427301;RCV000429671;RCV000419869;RCV000418744;RCV000436837;RCV000423682	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	C0278701;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;MedGen;C0281361;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	no assertion criteria provided	tagSNP	rs764146326
Clinvar_Rec_6631	rs1567547687	Likely pathogenic	Ovarian Neoplasms	RCV000785449	MeSH;MedGen	D010051;CN236629	no assertion criteria provided	tagSNP	rs1567547687
Clinvar_Rec_6632	rs876659802	Uncertain significance	Carcinoma of esophagus;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;not provided	RCV000423863;RCV000572417;RCV000797363;RCV000431945;RCV000441126;RCV000431661;RCV000444083;RCV000432244;RCV000443990;RCV000420956;RCV000785498;RCV000425930;RCV000431305;RCV000443337;RCV000426582;RCV000424036;RCV000681956	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659802
Clinvar_Rec_6633	rs876659802	Uncertain significance	Carcinoma of esophagus;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma	RCV000426301;RCV001017582;RCV000633329;RCV000435517;RCV000422133;RCV000444453;RCV000427682;RCV000417607;RCV000437485;RCV000428293;RCV000433513;RCV000420265;RCV000443564;RCV000433712;RCV000424797	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659802
Clinvar_Rec_6634	rs876659802	Conflicting interpretations of pathogenicity	Carcinoma of esophagus;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma	RCV000428205;RCV000214784;RCV001042706;RCV000433311;RCV000440687;RCV000419043;RCV000443824;RCV000421915;RCV000423023;RCV000417969;RCV000785311;RCV000439555;RCV000430442;RCV000434963;RCV000424153;RCV000429345	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782	criteria provided, conflicting interpretations	tagSNP	rs876659802
Clinvar_Rec_6635	rs17849781	Conflicting interpretations of pathogenicity	Carcinoma of esophagus;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;not provided	RCV000432977;RCV000562528;RCV000633344;RCV000427714;RCV000427094;RCV000433428;RCV000443572;RCV000432228;RCV000435645;RCV000444293;RCV000785527;RCV000437941;RCV000439725;RCV000426679;RCV000421997;RCV000442821;RCV000522600	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;MedGen	criteria provided, conflicting interpretations	tagSNP	rs17849781
Clinvar_Rec_6636	rs17849781	Likely pathogenic, drug response	Carcinoma of esophagus;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;PARP Inhibitor response;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma	RCV000437214;RCV000419944;RCV000433992;RCV000418460;RCV000429755;RCV000436548;RCV000425201;RCV000435065;RCV000785511;RCV000425878;RCV000626445;RCV000442861;RCV000440415;RCV000442983;RCV000429149	Human Phenotype Ontology;MedGen;Orphanet;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782	no assertion criteria provided	tagSNP	rs17849781
Clinvar_Rec_6637	rs17849781	Conflicting interpretations of pathogenicity	Carcinoma of esophagus;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma	RCV000426460;RCV000567850;RCV000688854;RCV000437992;RCV000430547;RCV000438674;RCV000437350;RCV000420739;RCV000441270;RCV000439356;RCV000785477;RCV000433017;RCV000417926;RCV000427997;RCV000419216;RCV000422309	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	HP;C0152018;ORPHA70482;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782	criteria provided, conflicting interpretations	tagSNP	rs17849781
Clinvar_Rec_6638	rs1057523347	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001017546;RCV000438574	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523347
Clinvar_Rec_6639	rs1057523347	Pathogenic	Li-Fraumeni syndrome;not provided	RCV000793572;RCV000582104	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001;MedGen	criteria provided, single submitter	tagSNP	rs1057523347
Clinvar_Rec_6640	rs763098116	Uncertain significance	Li-Fraumeni syndrome	RCV000532028	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs763098116
Clinvar_Rec_6641	rs763098116	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided	RCV000165199;RCV000456858;RCV000254809	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763098116
Clinvar_Rec_6642	rs1064795369	Conflicting interpretations of pathogenicity	Li-Fraumeni syndrome;not provided	RCV000819627;RCV000480494	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1064795369
Clinvar_Rec_6643	rs28934573	Pathogenic	Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Glioblastoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000440216;RCV000418625;RCV000441261;RCV000419713;RCV001053974;RCV000430987;RCV000425344;RCV000421131;RCV000430014;RCV000436296;RCV000438864;RCV000431755;RCV000785454;RCV000432092;RCV000426095;RCV000437363;RCV000441902;RCV000423572;RCV000424972;RCV000441922;RCV000420813	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;Orphanet	HP;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;CN236629;MedGen;C0281361;MeSH;C1336078;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs28934573
Clinvar_Rec_6644	rs28934573	Likely pathogenic	Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Glioblastoma;Hepatoblastoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Osteosarcoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000421750;RCV000422867;RCV000441622;RCV000434173;RCV000013153;RCV000130168;RCV000559355;RCV000428255;RCV000429321;RCV000435867;RCV000433125;RCV000423921;RCV000436959;RCV000418653;RCV000013154;RCV000785290;RCV000441398;RCV000438965;RCV000430665;RCV000444801;RCV000426268;RCV000417576;RCV000436527;RCV000426907	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;Orphanet	HP;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;MedGen;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C0206624;ORPHA449;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;Human Phenotype Ontology;D012516;C0029463;259500;ORPHA668;21708004;MeSH;CN236629;MedGen;C0281361;MeSH;C1336078;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934573
Clinvar_Rec_6645	rs28934573	Likely pathogenic	Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Glioblastoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;not provided	RCV000430604;RCV000437089;RCV000422573;RCV000417965;RCV000492778;RCV000154419;RCV000425780;RCV000442642;RCV000431373;RCV000420364;RCV000439590;RCV000429339;RCV000438488;RCV000785321;RCV000419417;RCV000439098;RCV000426900;RCV000426195;RCV000442616;RCV000432564;RCV000428236;RCV000438178;RCV000236210	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;Orphanet	HP;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;CN236629;MedGen;C0281361;MeSH;C1336078;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934573
Clinvar_Rec_6646	rs1057520002	Uncertain significance	Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Glioblastoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000422882;RCV000430183;RCV000437871;RCV000433946;RCV001057485;RCV000421946;RCV000436563;RCV000442103;RCV000425213;RCV000435497;RCV000443312;RCV000417799;RCV000785263;RCV000427437;RCV000439326;RCV000423390;RCV000418899;RCV000442139;RCV000429092;RCV000428035;RCV000433139	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;Orphanet	HP;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;CN236629;MedGen;C0281361;MeSH;C1336078;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs1057520002
Clinvar_Rec_6647	rs1057520002	Uncertain significance	Brainstem glioma;Carcinoma of esophagus;Carcinoma of gallbladder;Glioblastoma;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Non-Hodgkin lymphoma;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Renal cell carcinoma, papillary, 1;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000426866;RCV000418366;RCV000423557;RCV000434790;RCV001045859;RCV000441931;RCV000424609;RCV000429686;RCV000422775;RCV000432077;RCV000419457;RCV000425684;RCV000435947;RCV000440449;RCV000441961;RCV000434877;RCV000437125;RCV000441702;RCV000443160;RCV000420564	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;Orphanet	HP;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;MedGen;C0017636;ORPHA360;63634009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C4721532;605027;1929004;MedGen;C0281361;MeSH;C1336078;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, single submitter	tagSNP	rs1057520002
Clinvar_Rec_6648	rs764342812	Uncertain significance	Li-Fraumeni syndrome	RCV000544531	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs764342812
Clinvar_Rec_6649	rs1060501198	Uncertain significance	Li-Fraumeni syndrome	RCV000469438	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1060501198
Clinvar_Rec_6650	rs1060501198	Uncertain significance	Li-Fraumeni syndrome	RCV000633327	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1060501198
Clinvar_Rec_6651	rs587776768	Pathogenic	Li-Fraumeni syndrome 1	RCV000013156	Gene;MedGen;OMIM	553989;C1835398;151623	no assertion criteria provided	tagSNP	rs587776768
Clinvar_Rec_6652	rs1555525791	Likely benign	Hereditary cancer-predisposing syndrome	RCV000563182	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555525791
Clinvar_Rec_6653	rs1060501200	Uncertain significance	Li-Fraumeni syndrome	RCV000466733	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1060501200
Clinvar_Rec_6654	rs1800369	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;not provided;not specified	RCV000163241;RCV000196365;RCV000590622;RCV000430891	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1800369
Clinvar_Rec_6655	rs876659984	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000221116;RCV000559126	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659984
Clinvar_Rec_6656	rs876658627	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000213243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658627
Clinvar_Rec_6657	rs1555526997	Pathogenic	Li-Fraumeni syndrome	RCV000633337	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1555526997
Clinvar_Rec_6658	rs766765429	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567857;RCV000679369	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766765429
Clinvar_Rec_6659	rs377598768	Likely benign	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Squamous cell carcinoma of the head and neck;not provided;not specified	RCV000115717;RCV000203717;RCV000662410;RCV000989729;RCV000235217;RCV000781916	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;MeSH;C1168401;275355;ORPHA67037;MedGen	reviewed by expert panel	LD derived	rs535274413
Clinvar_Rec_6660	rs377598768	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	RCV000220427;RCV000791760	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001	criteria provided, multiple submitters, no conflicts	LD derived	rs535274413
Clinvar_Rec_6661	rs114389756	Benign/Likely benign	Dyskeratosis Congenita, Recessive;not provided;not specified	RCV000312919;RCV000475889;RCV000508478	MedGen	CN239315;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3027242
Clinvar_Rec_6662	rs114389756	Benign/Likely benign	Dyskeratosis Congenita, Recessive;not provided	RCV000396188;RCV000461111	MedGen	CN239315;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78390421
Clinvar_Rec_6663	rs114389756	Benign/Likely benign	Dyskeratosis Congenita, Recessive;not provided	RCV000334110;RCV000471528	MedGen	CN239315;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116271319
Clinvar_Rec_6664	rs149513613	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000330914	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs149513613
Clinvar_Rec_6665	rs533538191	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000274456	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs533538191
Clinvar_Rec_6666	rs774013108	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000285171	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs774013108
Clinvar_Rec_6667	rs3027245	Likely benign	Dyskeratosis Congenita, Recessive	RCV000282536	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs3027245
Clinvar_Rec_6668	rs1356825841	Uncertain significance	Early infantile epileptic encephalopathy	RCV000707036	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1356825841
Clinvar_Rec_6669	rs4791419	Benign	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000398310;RCV000304976	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs7512
Clinvar_Rec_6670	rs886052591	Uncertain significance	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000299179;RCV000361948	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs886052591
Clinvar_Rec_6671	rs2040570	Benign	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000283552;RCV000384875	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs2040570
Clinvar_Rec_6672	rs779082082	Uncertain significance	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000306745;RCV000277363	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs779082082
Clinvar_Rec_6673	rs61753148	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex IV deficiency;not provided;not specified	RCV000330754;RCV000273401;RCV000224328;RCV000128008	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61753148
Clinvar_Rec_6674	rs780334801	Uncertain significance	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000325345;RCV000276979	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs780334801
Clinvar_Rec_6675	rs886052597	Uncertain significance	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000278677;RCV000396008	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs886052597
Clinvar_Rec_6676	rs376921957	Uncertain significance	Leigh syndrome;Mitochondrial complex IV deficiency	RCV000332179;RCV000368067	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs376921957
Clinvar_Rec_6677	rs16948978	Benign/Likely benign	Leigh syndrome;Mitochondrial complex IV deficiency;not provided;not specified	RCV000290887;RCV000385025;RCV000676604;RCV000124569	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs16948978
Clinvar_Rec_6678	rs16948978	Benign/Likely benign	Leigh syndrome;Mitochondrial complex IV deficiency;not provided;not specified	RCV000298992;RCV000353817;RCV000676606;RCV000124572	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs16948986
Clinvar_Rec_6679	rs104894557	Pathogenic	Leigh syndrome due to mitochondrial complex IV deficiency;Mitochondrial complex IV deficiency	RCV000007960;RCV000995747	MedGen;OMIM;Orphanet;SNOMED CT	C1850599;MedGen;220110;ORPHA254905;67434000	criteria provided, single submitter	tagSNP	rs104894557
Clinvar_Rec_6680	rs104894557	Pathogenic	Leigh syndrome due to mitochondrial complex IV deficiency	RCV000007961	MedGen	C1850599	no assertion criteria provided	tagSNP	rs104894557
Clinvar_Rec_6681	rs2234594	Likely benign	Diffuse mesangial sclerosis;Meacham syndrome;Wilms Tumor;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000298164;RCV000406111;RCV000341428;RCV000397156	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C3151568;256370;111406002;236383002;MedGen;608978;ORPHA3097;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs2234594
Clinvar_Rec_6682	rs1060501257	Uncertain significance	Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000465831;RCV000465831;RCV000465831;RCV000465831	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0950121;194080;ORPHA220;236385009;MedGen;136680;ORPHA347;445431000;MedGen;194070;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs1060501257
Clinvar_Rec_6683	rs11539202	Benign	Pyruvate dehydrogenase complex deficiency;not provided	RCV000361091;RCV000676191	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007;MedGen	criteria provided, single submitter	tagSNP	rs11539202
Clinvar_Rec_6684	rs16926653	Likely benign	Pyruvate dehydrogenase complex deficiency	RCV000368861	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs16926653
Clinvar_Rec_6685	rs267608188	Likely pathogenic	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5a (zellweger)	RCV000409075;RCV000411582	MedGen;OMIM;OMIM	C3542026;614867;MedGen;614866	criteria provided, single submitter	tagSNP	rs267608188
Clinvar_Rec_6686	rs1554584505	Likely pathogenic	Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5a (zellweger)	RCV000670666;RCV000670666	MedGen;OMIM;OMIM	C3542026;614867;MedGen;614866	criteria provided, single submitter	tagSNP	rs1554584505
Clinvar_Rec_6687	rs12678847	Benign	Achromatopsia;Achromatopsia 3;Stargardt Disease, Recessive;not specified	RCV000337843;RCV000988077;RCV000373837;RCV000081979	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0152200;ORPHA49382;56852002;MedGen;262300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4961206
Clinvar_Rec_6688	rs138913151	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000562305;RCV000636746	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs138913151
Clinvar_Rec_6689	rs587780091	Conflicting interpretations of pathogenicity	Acute lymphoid leukemia;Aplastic anemia;Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;Microcephaly, normal intelligence and immunodeficiency;not provided	RCV000515337;RCV000515337;RCV000115786;RCV000230585;RCV000515337;RCV000212753	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0023449;613065;ORPHA513;91857003;Human Phenotype Ontology;C0002874;609135;ORPHA182040;306058006;MedGen;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587780091
Clinvar_Rec_6690	rs775848374	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000215909;RCV000534730	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs775848374
Clinvar_Rec_6691	rs878854507	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000229725	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs878854507
Clinvar_Rec_6692	rs1554558251	Likely benign	Hereditary cancer-predisposing syndrome	RCV000566788	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554558251
Clinvar_Rec_6693	rs1554558253	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569822;RCV000938014	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554558253
Clinvar_Rec_6694	rs864622143	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000217030;RCV000206506	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622143
Clinvar_Rec_6695	rs1337679118	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574278	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1337679118
Clinvar_Rec_6696	rs878854506	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000232061	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs878854506
Clinvar_Rec_6697	rs142334798	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided;not specified	RCV000115784;RCV000123208;RCV000587365;RCV000121614	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142334798
Clinvar_Rec_6698	rs142334798	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216186	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs142334798
Clinvar_Rec_6699	rs749918573	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000636724	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs749918573
Clinvar_Rec_6700	rs730881854	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided	RCV000576135;RCV000531700;RCV000160792	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881854
Clinvar_Rec_6701	rs557356152	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567667;RCV000944336	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs557356152
Clinvar_Rec_6702	rs1292640945	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000561811;RCV000549479	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1292640945
Clinvar_Rec_6703	rs765959451	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000567912;RCV000613394	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765959451
Clinvar_Rec_6704	rs944499155	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000573249;RCV000536553	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs944499155
Clinvar_Rec_6705	rs587782344	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000131283	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782344
Clinvar_Rec_6706	rs876658744	Likely benign	Hereditary cancer-predisposing syndrome	RCV000220718	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658744
Clinvar_Rec_6707	rs1382919150	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571802	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1382919150
Clinvar_Rec_6708	rs1180796619	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000636763	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs1180796619
Clinvar_Rec_6709	rs1180796619	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000772316;RCV001042170	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1180796619
Clinvar_Rec_6710	rs876659312	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided;not specified	RCV000222178;RCV000636705;RCV000590244;RCV000479010	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659312
Clinvar_Rec_6711	rs1554559036	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581562	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554559036
Clinvar_Rec_6712	rs1554559036	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000771446	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554559036
Clinvar_Rec_6713	rs768886664	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000583638;RCV000796652	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs768886664
Clinvar_Rec_6714	rs876659969	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided	RCV000213476;RCV000685781;RCV000213401	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659969
Clinvar_Rec_6715	rs763363235	Likely benign	Microcephaly, normal intelligence and immunodeficiency	RCV000636789	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs763363235
Clinvar_Rec_6716	rs1713422	Benign	NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM;Purine-nucleoside phosphorylase deficiency;not specified	RCV000015029;RCV000299797;RCV000127500	na;MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1049564
Clinvar_Rec_6717	rs1713422	Benign/Likely benign	Purine-nucleoside phosphorylase deficiency;not specified	RCV000259695;RCV000127501	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1130650
Clinvar_Rec_6718	rs151283499	Uncertain significance	Purine-nucleoside phosphorylase deficiency	RCV000380963	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005	criteria provided, single submitter	tagSNP	rs151283499
Clinvar_Rec_6719	rs121909536	Conflicting interpretations of pathogenicity	Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 9;not provided	RCV000374265;RCV000019700;RCV000517735	MedGen;OMIM	CN239175;MedGen;611895;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121909536
Clinvar_Rec_6720	rs17560	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 9;not provided;not specified	RCV000259774;RCV000986163;RCV000877109;RCV000516549	MedGen;OMIM	CN239175;MedGen;611895;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17560
Clinvar_Rec_6721	rs376559942	Benign	History of neurodevelopmental disorder;not provided	RCV000719793;RCV000864315	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61741241
Clinvar_Rec_6722	rs967570036	Uncertain significance	History of neurodevelopmental disorder	RCV000719195	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs967570036
Clinvar_Rec_6723	rs1566410587	Uncertain significance	History of neurodevelopmental disorder	RCV000718906	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1566410587
Clinvar_Rec_6724	rs148494847	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715868;RCV000871732;RCV000177526	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148494847
Clinvar_Rec_6725	rs61752836	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000719644;RCV000871092	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61752836
Clinvar_Rec_6726	rs779470673	Uncertain significance	History of neurodevelopmental disorder	RCV000718871	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs779470673
Clinvar_Rec_6727	rs61744173	Benign	History of neurodevelopmental disorder;not provided	RCV000717770;RCV000864272	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61744173
Clinvar_Rec_6728	rs1555318633	Pathogenic	Inborn genetic diseases	RCV000622972	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555318633
Clinvar_Rec_6729	rs150081280	Likely benign	Cardiovascular phenotype	RCV000622240	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs150081280
Clinvar_Rec_6730	rs150081280	Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000030307;RCV000249957;RCV000475333;RCV000037506	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150081280
Clinvar_Rec_6731	rs150081280	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000254205;RCV000475099;RCV000154631	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140800076
Clinvar_Rec_6732	rs397516225	Uncertain significance	Cardiomyopathy;Cardiovascular phenotype;Hypertrophic cardiomyopathy;MYH7-Related Disorders;not specified	RCV000758057;RCV000244791;RCV000628928;RCV000785049;RCV000035923	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen	reviewed by expert panel	tagSNP	rs397516225
Clinvar_Rec_6733	rs1555336651	Uncertain significance	Cardiovascular phenotype;Hypertrophic cardiomyopathy	RCV000618124;RCV000805383	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555336651
Clinvar_Rec_6734	rs753484341	Uncertain significance	Hypertrophic cardiomyopathy;not provided	RCV000814172;RCV000498742	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753484341
Clinvar_Rec_6735	rs200746981	Uncertain significance	Hypertrophic cardiomyopathy;not provided	RCV000819613;RCV000172046	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200746981
Clinvar_Rec_6736	rs1566535491	Uncertain significance	Hypertrophic cardiomyopathy	RCV000697662	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1566535491
Clinvar_Rec_6737	rs878853836	Uncertain significance	Hypertrophic cardiomyopathy	RCV000226286	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs878853836
Clinvar_Rec_6738	rs397516104	Uncertain significance	Cardiomyopathy;not specified	RCV000770505;RCV000035721	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516104
Clinvar_Rec_6739	rs397516102	Uncertain significance	Cardiovascular phenotype	RCV000617464	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs397516102
Clinvar_Rec_6740	rs180755658	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;not specified	RCV000466410;RCV000035855	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	LD derived	rs149439730
Clinvar_Rec_6741	rs532096263	Uncertain significance	Dyskeratosis congenita	RCV000634480	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs532096263
Clinvar_Rec_6742	rs773286175	Uncertain significance	Dyskeratosis congenita	RCV000552311	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs773286175
Clinvar_Rec_6743	rs199422317	Pathogenic	Aplastic anemia	RCV000032176	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002874;609135;ORPHA182040;306058006	no assertion criteria provided	tagSNP	rs199422317
Clinvar_Rec_6744	rs786205012	Uncertain significance	Rett syndrome, congenital variant	RCV000170086	MedGen;OMIM	C3150705;613454	no assertion criteria provided	tagSNP	rs786205012
Clinvar_Rec_6745	rs786205008	Pathogenic	Rett syndrome, congenital variant	RCV000170081	MedGen;OMIM	C3150705;613454	no assertion criteria provided	tagSNP	rs786205008
Clinvar_Rec_6746	rs371279404	Benign/Likely benign	Rett syndrome, congenital variant;not specified	RCV000648319;RCV000187448	MedGen;OMIM	C3150705;613454;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371279404
Clinvar_Rec_6747	rs1465989734	Uncertain significance	Thrombophilia due to protein S deficiency, autosomal recessive	RCV000704946	MedGen;OMIM	C3281092;614514	criteria provided, single submitter	tagSNP	rs1465989734
Clinvar_Rec_6748	rs745579260	Uncertain significance	Thrombophilia due to protein S deficiency, autosomal recessive	RCV000461718	MedGen;OMIM	C3281092;614514	criteria provided, single submitter	tagSNP	rs745579260
Clinvar_Rec_6749	rs139997243	Conflicting interpretations of pathogenicity	Joubert syndrome;not provided;not specified	RCV000398611;RCV000726050;RCV000294601	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139997243
Clinvar_Rec_6750	rs33944211	Benign/Likely benign	Joubert syndrome;Joubert syndrome 8;not provided;not specified	RCV000274655;RCV000616146;RCV000860462;RCV000116417	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;612291;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs33944211
Clinvar_Rec_6751	rs112062713	Uncertain significance	Joubert syndrome 8	RCV000469693	MedGen;OMIM	C2676771;612291	criteria provided, single submitter	tagSNP	rs112062713
Clinvar_Rec_6752	rs377420487	Uncertain significance	Joubert syndrome	RCV000325817	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs377420487
Clinvar_Rec_6753	rs17855824	Benign/Likely benign	Joubert syndrome;Joubert syndrome 8;not provided;not specified	RCV000274655;RCV000616146;RCV000860462;RCV000116417	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;612291;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs33944211
Clinvar_Rec_6754	rs886058942	Uncertain significance	Hereditary coproporphyria	RCV000300133	MedGen;OMIM;Orphanet;SNOMED CT	C0162531;121300;ORPHA79273;7425008	criteria provided, single submitter	tagSNP	rs886058942
Clinvar_Rec_6755	rs513154	Likely benign	Retinitis Pigmentosa, Recessive	RCV000384342	MedGen	CN239466	criteria provided, single submitter	LD derived	rs813449
Clinvar_Rec_6756	rs513154	Benign	Retinitis Pigmentosa, Recessive;not specified	RCV000271863;RCV000081790	MedGen	CN239466;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs571391
Clinvar_Rec_6757	rs875989831	Pathogenic	Combined oxidative phosphorylation deficiency 30;Mitochondrial diseases	RCV000225275;RCV000754101	MedGen;OMIM;Orphanet;Orphanet	C4310773;616974;ORPHA478042;MedGen;ORPHA68380	no assertion criteria provided	tagSNP	rs875989831
Clinvar_Rec_6758	rs553114356	Uncertain significance	Pyridoxine-dependent epilepsy;not provided	RCV000690729;RCV000186738	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs553114356
Clinvar_Rec_6759	rs561989552	Likely benign	Leukodystrophy, Adult-Onset	RCV000263750	MedGen	CN239186	criteria provided, single submitter	tagSNP	rs561989552
Clinvar_Rec_6760	rs886059858	Likely benign	Leukodystrophy, Adult-Onset	RCV000395495	MedGen	CN239186	criteria provided, single submitter	tagSNP	rs886059858
Clinvar_Rec_6761	rs142781428	Conflicting interpretations of pathogenicity	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified	RCV000341969;RCV000246780	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212;MedGen	criteria provided, conflicting interpretations	LD derived	rs35591368
Clinvar_Rec_6762	rs142781428	Benign	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not specified	RCV000560682;RCV000243344	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs17164938
Clinvar_Rec_6763	rs74794590	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Congenital contractural arachnodactyly;Congenital contractural arachnodactyly;Macular degeneration, early-onset;not provided;not specified	RCV000242451;RCV000363479;RCV000768219;RCV000768219;RCV000589750;RCV000179087	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	CN230736;MedGen;121050;ORPHA115;205821003;MedGen;121050;ORPHA115;205821003;MedGen;616118;MedGen	criteria provided, conflicting interpretations	LD derived	rs200608284
Clinvar_Rec_6764	rs886059890	Uncertain significance	Congenital contractural arachnodactyly	RCV000265193	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003	criteria provided, single submitter	tagSNP	rs886059890
Clinvar_Rec_6765	rs863223615	Uncertain significance	Congenital contractural arachnodactyly;not provided	RCV000796322;RCV000198778	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863223615
Clinvar_Rec_6766	rs794727560	Conflicting interpretations of pathogenicity	Congenital contractural arachnodactyly;not provided	RCV000659618;RCV000177645	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs794727560
Clinvar_Rec_6767	rs794726987	Uncertain significance	Congenital contractural arachnodactyly;not provided	RCV000464412;RCV000173752	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794726987
Clinvar_Rec_6768	rs149679907	Uncertain significance	Renal carnitine transport defect	RCV000381602	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	LD derived	rs538643468
Clinvar_Rec_6769	rs536654304	Conflicting interpretations of pathogenicity	Renal carnitine transport defect;not provided	RCV000022325;RCV000859507	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004;MedGen	criteria provided, conflicting interpretations	LD derived	rs150705788
Clinvar_Rec_6770	rs1554085861	Likely pathogenic	Renal carnitine transport defect	RCV000022287	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	tagSNP	rs1554085861
Clinvar_Rec_6771	rs886059910	Uncertain significance	Renal carnitine transport defect	RCV000335765	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	tagSNP	rs886059910
Clinvar_Rec_6772	rs1554096651	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000542455	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554096651
Clinvar_Rec_6773	rs937875134	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564636	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs937875134
Clinvar_Rec_6774	rs1561634387	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000699796	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561634387
Clinvar_Rec_6775	rs587780155	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000115954;RCV000497298	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780155
Clinvar_Rec_6776	rs786201913	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000164440;RCV000859543	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201913
Clinvar_Rec_6777	rs876658219	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000219674	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658219
Clinvar_Rec_6778	rs759379314	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000206875;RCV000859400	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759379314
Clinvar_Rec_6779	rs1441242803	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000632230	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1441242803
Clinvar_Rec_6780	rs764892600	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000231758;RCV000858807	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764892600
Clinvar_Rec_6781	rs863224744	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000197191	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224744
Clinvar_Rec_6782	rs1379211444	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000548676	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1379211444
Clinvar_Rec_6783	rs876660690	Likely benign	Hereditary cancer-predisposing syndrome	RCV000222112	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660690
Clinvar_Rec_6784	rs786202243	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164960	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202243
Clinvar_Rec_6785	rs1561639245	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000692948	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561639245
Clinvar_Rec_6786	rs200943808	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567457;RCV000976268	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200943808
Clinvar_Rec_6787	rs200017020	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder;not provided	RCV001030502;RCV000115928;RCV000409378;RCV000212908	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen;613078;ORPHA240760;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200017020
Clinvar_Rec_6788	rs1554098298	Likely benign	Hereditary cancer-predisposing syndrome	RCV000561222	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098298
Clinvar_Rec_6789	rs745374544	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000219801;RCV000859798	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745374544
Clinvar_Rec_6790	rs769385714	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000527089;RCV000859042	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769385714
Clinvar_Rec_6791	rs145428112	Uncertain significance	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder;not provided	RCV000115929;RCV000515382;RCV000212909	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;613078;ORPHA240760;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145428112
Clinvar_Rec_6792	rs786202706	Likely benign	Hereditary cancer-predisposing syndrome	RCV000575322	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202706
Clinvar_Rec_6793	rs786202706	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000165651;RCV000859091	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202706
Clinvar_Rec_6794	rs1554098317	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567761;RCV000951038	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554098317
Clinvar_Rec_6795	rs1554098318	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000559606	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098318
Clinvar_Rec_6796	rs876658417	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217211	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658417
Clinvar_Rec_6797	rs1554098415	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565862	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098415
Clinvar_Rec_6798	rs863224737	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000196285	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224737
Clinvar_Rec_6799	rs756853700	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000229564	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs756853700
Clinvar_Rec_6800	rs876660850	Likely benign	Hereditary cancer-predisposing syndrome	RCV000213714	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660850
Clinvar_Rec_6801	rs745384449	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000457332;RCV000859264	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745384449
Clinvar_Rec_6802	rs769143998	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561394	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs769143998
Clinvar_Rec_6803	rs769143998	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215304	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs769143998
Clinvar_Rec_6804	rs1554098719	Likely benign	Hereditary cancer-predisposing syndrome	RCV000567363	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098719
Clinvar_Rec_6805	rs756003599	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000165062	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756003599
Clinvar_Rec_6806	rs762093973	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000476503	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs762093973
Clinvar_Rec_6807	rs876659121	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218116	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659121
Clinvar_Rec_6808	rs572533256	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000700204	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs572533256
Clinvar_Rec_6809	rs572533256	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not specified	RCV000196757;RCV000781778	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs572533256
Clinvar_Rec_6810	rs1358470664	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000632269;RCV000781779	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1358470664
Clinvar_Rec_6811	rs1338301563	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000697823	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1338301563
Clinvar_Rec_6812	rs776395588	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000164879	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs776395588
Clinvar_Rec_6813	rs28903093	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000115941;RCV000212917	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs28903093
Clinvar_Rec_6814	rs1554099200	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000543707	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554099200
Clinvar_Rec_6815	rs934845753	Likely benign	Hereditary cancer-predisposing syndrome	RCV000560790	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs934845753
Clinvar_Rec_6816	rs876659612	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000230454	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659612
Clinvar_Rec_6817	rs562172843	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000115947;RCV000212921	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs562172843
Clinvar_Rec_6818	rs876660348	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000214799	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660348
Clinvar_Rec_6819	rs1554099366	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574859	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554099366
Clinvar_Rec_6820	rs552846176	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561312	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs552846176
Clinvar_Rec_6821	rs876660257	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218148	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660257
Clinvar_Rec_6822	rs786201980	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000164541;RCV000858931	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201980
Clinvar_Rec_6823	rs756860186	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164600	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756860186
Clinvar_Rec_6824	rs1300783013	Likely benign	Hereditary cancer-predisposing syndrome	RCV000531182	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1300783013
Clinvar_Rec_6825	rs762702502	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000221020	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs762702502
Clinvar_Rec_6826	rs548876214	Benign/Likely benign	Nijmegen breakage syndrome-like disorder;not provided	RCV000663153;RCV000196572	MedGen;OMIM;Orphanet	C2751318;613078;ORPHA240760;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs369581851
Clinvar_Rec_6827	rs1561737008	Likely pathogenic	NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES	RCV000760303	MedGen;OMIM	CN258245;618354	criteria provided, single submitter	tagSNP	rs1561737008
Clinvar_Rec_6828	rs137853126	Pathogenic	Chylomicron retention disease	RCV000003063	MedGen;OMIM;Orphanet	C0795956;246700;ORPHA71	no assertion criteria provided	tagSNP	rs137853126
Clinvar_Rec_6829	rs1057515683	Uncertain significance	Brachydactyly;Robinow syndrome, autosomal dominant 1	RCV000295759;RCV000385667	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0221357;43476002;MedGen;180700;ORPHA97360	criteria provided, single submitter	tagSNP	rs1057515683
Clinvar_Rec_6830	rs552433019	Likely benign	Neuropathy hereditary sensory and autonomic type 1	RCV000289325	MedGen;OMIM;Orphanet	C0020071;162400;ORPHA36386	criteria provided, single submitter	tagSNP	rs552433019
Clinvar_Rec_6831	rs749175480	Uncertain significance	Neuropathy hereditary sensory and autonomic type 1	RCV000686409	MedGen;OMIM;Orphanet	C0020071;162400;ORPHA36386	criteria provided, single submitter	tagSNP	rs749175480
Clinvar_Rec_6832	rs562364258	Likely benign	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	RCV000529428	MedGen;OMIM;Orphanet	C3809049;615290;ORPHA363454	criteria provided, single submitter	LD derived	rs552216061
Clinvar_Rec_6833	rs149465891	Likely benign	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	RCV000533297	MedGen;OMIM;Orphanet	C3809049;615290;ORPHA363454	criteria provided, single submitter	LD derived	rs201343832
Clinvar_Rec_6834	rs998616675	Uncertain significance	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant;not specified	RCV001066018;RCV000517205	MedGen;OMIM;Orphanet	C3809049;615290;ORPHA363454;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs998616675
Clinvar_Rec_6835	rs199519253	Uncertain significance	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	RCV000701506	MedGen;OMIM;Orphanet	C3809049;615290;ORPHA363454	criteria provided, single submitter	tagSNP	rs199519253
Clinvar_Rec_6836	rs55658812	Conflicting interpretations of pathogenicity	Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant;not specified	RCV000651521;RCV000432388	MedGen;OMIM;Orphanet	C3809049;615290;ORPHA363454;MedGen	criteria provided, conflicting interpretations	tagSNP	rs55658812
Clinvar_Rec_6837	rs56161090	Uncertain significance	Fanconi anemia	RCV000346754	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs56161090
Clinvar_Rec_6838	rs56161090	Uncertain significance	Fanconi anemia	RCV000394622	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs56161090
Clinvar_Rec_6839	rs758866109	Uncertain significance	Fanconi anemia	RCV000684927	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs758866109
Clinvar_Rec_6840	rs369636116	Uncertain significance	Fanconi anemia;not provided	RCV001050994;RCV000523634	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369636116
Clinvar_Rec_6841	rs1064793496	Uncertain significance	Fanconi anemia;not provided	RCV001042878;RCV000478964	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793496
Clinvar_Rec_6842	rs3780562	Benign	Fanconi anemia	RCV000334241	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs4647554
Clinvar_Rec_6843	rs1554833192	Uncertain significance	Fanconi anemia	RCV000555718	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1554833192
Clinvar_Rec_6844	rs139086753	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000568808;RCV000469813	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139086753
Clinvar_Rec_6845	rs201873008	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001022065;RCV000458089	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201873008
Clinvar_Rec_6846	rs1564005341	Uncertain significance	Gorlin syndrome	RCV000686744	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1564005341
Clinvar_Rec_6847	rs536440590	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000469995;RCV001021512	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs536440590
Clinvar_Rec_6848	rs536440590	Conflicting interpretations of pathogenicity	Gorlin syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000201244;RCV001021513;RCV000869634	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs536440590
Clinvar_Rec_6849	rs786204201	Uncertain significance	Gorlin syndrome	RCV000168289	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs786204201
Clinvar_Rec_6850	rs368528885	Uncertain significance	Gorlin syndrome	RCV000200607	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs368528885
Clinvar_Rec_6851	rs368528885	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001021424;RCV000229142	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368528885
Clinvar_Rec_6852	rs587780704	Likely benign	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000123032;RCV001021318	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587780704
Clinvar_Rec_6853	rs182045135	Benign/Likely benign	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly sequence;not provided;not specified	RCV000123030;RCV000573233;RCV000355490;RCV000859010;RCV000604409	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0079541;ORPHA2162;30915001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs182045135
Clinvar_Rec_6854	rs908085179	Likely benign	Gorlin syndrome	RCV000556264	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs908085179
Clinvar_Rec_6855	rs1362991131	Likely benign	Gorlin syndrome	RCV000538848	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1362991131
Clinvar_Rec_6856	rs1369922802	Uncertain significance	Gorlin syndrome	RCV000526268	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1369922802
Clinvar_Rec_6857	rs544963328	Uncertain significance	BCC1;Gorlin syndrome;Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 7	RCV000764846;RCV000628339;RCV000764846;RCV001015070;RCV000764846	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM	C2751544;605462;MedGen;109400;ORPHA377;69408002;MedGen;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;MedGen;610828	criteria provided, multiple submitters, no conflicts	tagSNP	rs544963328
Clinvar_Rec_6858	rs774362306	Uncertain significance	Gorlin syndrome	RCV000703655	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs774362306
Clinvar_Rec_6859	rs776424978	Uncertain significance	Gorlin syndrome	RCV000532806	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs776424978
Clinvar_Rec_6860	rs1554708751	Pathogenic	Gorlin syndrome	RCV000578352	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1554708751
Clinvar_Rec_6861	rs1564088256	Uncertain significance	Gorlin syndrome	RCV000692295	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1564088256
Clinvar_Rec_6862	rs1554708771	Pathogenic	Gorlin syndrome	RCV000628352	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1554708771
Clinvar_Rec_6863	rs1263611523	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000628417;RCV001015642	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1263611523
Clinvar_Rec_6864	rs779791579	Conflicting interpretations of pathogenicity	BCC1;Gorlin syndrome;Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly 7;Holoprosencephaly sequence;not provided	RCV000764853;RCV000168136;RCV000764853;RCV000567817;RCV000764853;RCV000388546;RCV000512831	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	C2751544;605462;MedGen;109400;ORPHA377;69408002;MedGen;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;MedGen;610828;Human Phenotype Ontology;C0079541;ORPHA2162;30915001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs779791579
Clinvar_Rec_6865	rs201216195	Uncertain significance	Congenital cataract	RCV000403718	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	criteria provided, single submitter	tagSNP	rs201216195
Clinvar_Rec_6866	rs141108592	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000339759;RCV000301181;RCV000405391	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs189032587
Clinvar_Rec_6867	rs373576679	Likely benign	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000303984;RCV000343689;RCV000392889	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs373576679
Clinvar_Rec_6868	rs142659531	Likely benign	Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000617814;RCV000462278;RCV000858981	MedGen;Orphanet	CN230736;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs147388628
Clinvar_Rec_6869	rs755705607	Uncertain significance	ALG2-CDG;Myasthenic syndrome, congenital, 14	RCV000527713;RCV000527713	MedGen;OMIM;Orphanet;OMIM	C1842836;607906;ORPHA79326;MedGen;616228	criteria provided, single submitter	tagSNP	rs755705607
Clinvar_Rec_6870	rs7023652	Benign/Likely benign	Congenital disorder of glycosylation;not provided;not specified	RCV000386367;RCV000224585;RCV000392183	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7023652
Clinvar_Rec_6871	rs1047968	Likely benign	Hereditary fructosuria	RCV000393044	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	LD derived	rs17772839
Clinvar_Rec_6872	rs1047968	Likely benign	Hereditary fructosuria	RCV000358465	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	LD derived	rs41296049
Clinvar_Rec_6873	rs1047968	Likely benign	Hereditary fructosuria	RCV000323875	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	LD derived	rs41308902
Clinvar_Rec_6874	rs1047968	Likely benign	Hereditary fructosuria	RCV000371488	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	LD derived	rs17772845
Clinvar_Rec_6875	rs41310087	Likely benign	Hereditary fructosuria	RCV000395004	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	tagSNP	rs41310087
Clinvar_Rec_6876	rs606231283	Pathogenic	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	RCV000144939	MedGen;OMIM;Orphanet	C4015146;616079;ORPHA397758	no assertion criteria provided	tagSNP	rs606231283
Clinvar_Rec_6877	rs1555286700	Uncertain significance	Retinoblastoma	RCV000552483	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	criteria provided, single submitter	tagSNP	rs1555286700
Clinvar_Rec_6878	rs879255262	Pathogenic	Hypotrichosis 8	RCV000239380	MedGen;OMIM	C3279470;278150	no assertion criteria provided	tagSNP	rs879255262
Clinvar_Rec_6879	rs367668687	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001013560;RCV000465473	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367668687
Clinvar_Rec_6880	rs1801249	Benign	Wilson disease;not specified	RCV000029369;RCV000078051	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801249
Clinvar_Rec_6881	rs1801249	Benign	Wilson disease	RCV000336343	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	LD derived	rs928169
Clinvar_Rec_6882	rs1801249	Benign/Likely benign	Wilson disease;not provided;not specified	RCV000029376;RCV000999513;RCV000078054	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2282057
Clinvar_Rec_6883	rs1801249	Benign	Wilson disease;not specified	RCV000029357;RCV000078044	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs732774
Clinvar_Rec_6884	rs1801249	Benign	Wilson disease;not specified	RCV000029356;RCV000078043	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1061472
Clinvar_Rec_6885	rs1555291801	Pathogenic/Likely pathogenic	Wilson disease	RCV000671031	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555291801
Clinvar_Rec_6886	rs756718353	Uncertain significance	Wilson disease	RCV000670652	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756718353
Clinvar_Rec_6887	rs749363958	Conflicting interpretations of pathogenicity	Wilson disease;not provided	RCV000576360;RCV000478984	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs749363958
Clinvar_Rec_6888	rs879253813	Conflicting interpretations of pathogenicity	Propionic acidemia	RCV000236355	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, conflicting interpretations	tagSNP	rs879253813
Clinvar_Rec_6889	rs1039491317	Likely benign	Propionic acidemia	RCV000532148	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, single submitter	tagSNP	rs1039491317
Clinvar_Rec_6890	rs76148008	Conflicting interpretations of pathogenicity	Combined oxidative phosphorylation deficiency;not provided	RCV000374368;RCV000677064	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, conflicting interpretations	tagSNP	rs76148008
Clinvar_Rec_6891	rs772578397	Uncertain significance	Combined oxidative phosphorylation deficiency 5	RCV000778679	MedGen;OMIM;Orphanet	C2673642;611719;ORPHA137908	criteria provided, single submitter	tagSNP	rs772578397
Clinvar_Rec_6892	rs10935464	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000321936;RCV000586392;RCV000145330	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2229032
Clinvar_Rec_6893	rs28897764	Benign/Likely benign	Seckel syndrome;not specified	RCV000361827;RCV000145334	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28897764
Clinvar_Rec_6894	rs28897764	Benign/Likely benign	Seckel syndrome;not specified	RCV000298637;RCV000145323	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112018640
Clinvar_Rec_6895	rs28897764	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000327853;RCV000589121;RCV000145301	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910272
Clinvar_Rec_6896	rs28897764	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000377847;RCV000590603;RCV000145300	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910271
Clinvar_Rec_6897	rs28897764	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000398572;RCV000588919;RCV000145294	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910270
Clinvar_Rec_6898	rs28897764	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000365738;RCV000588029;RCV000145288	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28897765
Clinvar_Rec_6899	rs1799870	Likely benign	Renal dysplasia	RCV000261670	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001	criteria provided, single submitter	tagSNP	rs1799870
Clinvar_Rec_6900	rs5188	Likely benign	Renal dysplasia	RCV000385487	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001	criteria provided, single submitter	tagSNP	rs5188
Clinvar_Rec_6901	rs779612018	Uncertain significance	Hermansky-Pudlak syndrome	RCV000299530	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs779612018
Clinvar_Rec_6902	rs775762509	Uncertain significance	Hermansky-Pudlak syndrome	RCV000311721	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs775762509
Clinvar_Rec_6903	rs13098532	Uncertain significance	Deficiency of ferroxidase;Hermansky-Pudlak syndrome	RCV000269434;RCV000326802	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0878682;604290;ORPHA48818;124224004;MedGen;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs13098532
Clinvar_Rec_6904	rs756853882	Likely benign	Charcot-Marie-Tooth Neuropathy X	RCV000654855	MedGen	CN118851	criteria provided, single submitter	tagSNP	rs756853882
Clinvar_Rec_6905	rs1360698598	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000714405	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs1360698598
Clinvar_Rec_6906	rs765853112	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000365005	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs765853112
Clinvar_Rec_6907	rs104894884	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12	RCV000012414	MedGen;OMIM	C4746984;301020	no assertion criteria provided	tagSNP	rs104894884
Clinvar_Rec_6908	rs771282640	Benign	Lethal osteosclerotic bone dysplasia;not provided;not specified	RCV000987813;RCV000948320;RCV000454641	MedGen;OMIM;Orphanet	C1850106;259775;ORPHA1832;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771282640
Clinvar_Rec_6909	rs1437350828	Uncertain significance	Primary ciliary dyskinesia	RCV000696205	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1437350828
Clinvar_Rec_6910	rs556808514	Pathogenic	Joubert syndrome 1	RCV000416431	MedGen;OMIM	C4551568;213300	no assertion criteria provided	tagSNP	rs556808514
Clinvar_Rec_6911	rs762276921	Uncertain significance	Rigidity and multifocal seizure syndrome, lethal neonatal	RCV000650116	MedGen;OMIM;Orphanet	C3281029;614498;ORPHA435845	criteria provided, single submitter	tagSNP	rs762276921
Clinvar_Rec_6912	rs201045158	Uncertain significance	Rigidity and multifocal seizure syndrome, lethal neonatal	RCV000687672	MedGen;OMIM;Orphanet	C3281029;614498;ORPHA435845	criteria provided, single submitter	tagSNP	rs201045158
Clinvar_Rec_6913	rs763527391	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Rigidity and multifocal seizure syndrome, lethal neonatal;not provided	RCV000624671;RCV000528948;RCV000414532	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;614498;ORPHA435845;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763527391
Clinvar_Rec_6914	rs751770538	Uncertain significance	Rigidity and multifocal seizure syndrome, lethal neonatal	RCV000528161	MedGen;OMIM;Orphanet	C3281029;614498;ORPHA435845	criteria provided, single submitter	tagSNP	rs751770538
Clinvar_Rec_6915	rs1562568958	Uncertain significance	Rigidity and multifocal seizure syndrome, lethal neonatal	RCV000702814	MedGen;OMIM;Orphanet	C3281029;614498;ORPHA435845	criteria provided, single submitter	tagSNP	rs1562568958
Clinvar_Rec_6916	rs869312931	Pathogenic	Inborn genetic diseases;NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	RCV000210559;RCV000677130	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;618056	criteria provided, single submitter	tagSNP	rs869312931
Clinvar_Rec_6917	rs764991282	Uncertain significance	Spastic paraplegia 48, autosomal recessive	RCV000698944	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511	criteria provided, single submitter	tagSNP	rs764991282
Clinvar_Rec_6918	rs77393809	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000474993;RCV000116376	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	tagSNP	rs77393809
Clinvar_Rec_6919	rs77393809	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000467041;RCV000116377	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549839
Clinvar_Rec_6920	rs77393809	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000463367;RCV000116378	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549840
Clinvar_Rec_6921	rs77393809	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified	RCV000308741;RCV000234025;RCV000116374	MedGen;OMIM;Orphanet	CN239433;MedGen;613647;ORPHA306511;MedGen	criteria provided, conflicting interpretations	LD derived	rs117666541
Clinvar_Rec_6922	rs77393809	Benign/Likely benign	Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified	RCV000261000;RCV000234465;RCV000455474	MedGen;OMIM;Orphanet	CN239433;MedGen;613647;ORPHA306511;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77890266
Clinvar_Rec_6923	rs886062362	Uncertain significance	Spastic Paraplegia, Recessive	RCV000323555	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs886062362
Clinvar_Rec_6924	rs797044950	Pathogenic	Inborn genetic diseases	RCV000190802	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs797044950
Clinvar_Rec_6925	rs587779774	Pathogenic	Baraitser-Winter syndrome 1	RCV000133571	MedGen;OMIM	C1855722;243310	no assertion criteria provided	tagSNP	rs587779774
Clinvar_Rec_6926	rs587779773	Pathogenic	Baraitser-Winter syndrome 1	RCV000133570	MedGen;OMIM	C1855722;243310	no assertion criteria provided	tagSNP	rs587779773
Clinvar_Rec_6927	rs373785974	Pathogenic	Gordon Holmes syndrome	RCV000180794	MedGen;OMIM;Orphanet	C1859305;212840;ORPHA1173	no assertion criteria provided	tagSNP	rs373785974
Clinvar_Rec_6928	rs387907370	Pathogenic	Gordon Holmes syndrome	RCV000043629	MedGen;OMIM;Orphanet	C1859305;212840;ORPHA1173	no assertion criteria provided	tagSNP	rs387907370
Clinvar_Rec_6929	rs267608145	Benign	Lynch syndrome	RCV000076783	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267608145
Clinvar_Rec_6930	rs764124442	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000167363;RCV000507661	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764124442
Clinvar_Rec_6931	rs1554292688	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629806	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554292688
Clinvar_Rec_6932	rs1060503124	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001016024;RCV000466147	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503124
Clinvar_Rec_6933	rs1554292691	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568346	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554292691
Clinvar_Rec_6934	rs754350493	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000571991;RCV000553752	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs754350493
Clinvar_Rec_6935	rs878854048	Likely benign	Lynch syndrome	RCV000225950	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs878854048
Clinvar_Rec_6936	rs10000	Benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided;not specified	RCV000162401;RCV000030369;RCV000627740;RCV000174851	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs10000
Clinvar_Rec_6937	rs1562598658	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000702872	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1562598658
Clinvar_Rec_6938	rs576055272	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;not provided;not specified	RCV000131526;RCV000662644;RCV000656951;RCV000218670	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen	criteria provided, conflicting interpretations	tagSNP	rs576055272
Clinvar_Rec_6939	rs1554293959	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000630130	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554293959
Clinvar_Rec_6940	rs17420802	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566590	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs17420802
Clinvar_Rec_6941	rs17420802	Benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Lynch syndrome I;Turcot syndrome;not provided;not specified	RCV000130364;RCV000615735;RCV000755648;RCV000030368;RCV000144644;RCV000755648;RCV000755368;RCV000079108	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen;614337;MedGen;ORPHA144;MedGen;120435;MedGen;276300;ORPHA252202;61665008;MedGen	reviewed by expert panel	tagSNP	rs17420802
Clinvar_Rec_6942	rs779587825	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000706410	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs779587825
Clinvar_Rec_6943	rs1554297082	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000629987	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554297082
Clinvar_Rec_6944	rs760629688	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Turcot syndrome	RCV000573574;RCV000463007;RCV000765955;RCV000765955	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen;276300;ORPHA252202;61665008	criteria provided, conflicting interpretations	tagSNP	rs760629688
Clinvar_Rec_6945	rs63751422	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Pulmonary arterial hypertension;Pulmonary insufficiency;Respiratory insufficiency;Turcot syndrome;not provided	RCV000164116;RCV000524452;RCV000076835;RCV000735282;RCV000735282;RCV000735282;RCV000148733;RCV000223612	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;MedGen;Orphanet;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;Human Phenotype Ontology;C2973725;ORPHA182090;Human Phenotype Ontology;C0034088;Human Phenotype Ontology;C0035229;MedGen;276300;ORPHA252202;61665008;MedGen	reviewed by expert panel	tagSNP	rs63751422
Clinvar_Rec_6946	rs765262682	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000221258;RCV000560487	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs765262682
Clinvar_Rec_6947	rs876661271	Uncertain significance	Hereditary nonpolyposis colon cancer;not provided	RCV001069181;RCV000215622	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661271
Clinvar_Rec_6948	rs1179605136	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629701	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1179605136
Clinvar_Rec_6949	rs876660784	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218410	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660784
Clinvar_Rec_6950	rs1304634005	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000526924	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1304634005
Clinvar_Rec_6951	rs1304634005	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4	RCV001030721;RCV000772030;RCV001061729;RCV000662640	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;OMIM	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337	criteria provided, conflicting interpretations	tagSNP	rs1304634005
Clinvar_Rec_6952	rs878854039	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000563124;RCV000629896	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854039
Clinvar_Rec_6953	rs878854039	Uncertain significance	Lynch syndrome	RCV000232833	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs878854039
Clinvar_Rec_6954	rs764252217	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000772031;RCV000693132	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs764252217
Clinvar_Rec_6955	rs1424781748	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000564104;RCV000550390	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1424781748
Clinvar_Rec_6956	rs786202870	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;not provided	RCV000165917;RCV000531904;RCV000415672;RCV000480451	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202870
Clinvar_Rec_6957	rs1554297399	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567368	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554297399
Clinvar_Rec_6958	rs1554297497	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000575764;RCV001050031	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs1554297497
Clinvar_Rec_6959	rs1554297505	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000572720;RCV000630016	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554297505
Clinvar_Rec_6960	rs878854037	Pathogenic	Lynch syndrome	RCV000234464	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs878854037
Clinvar_Rec_6961	rs1064793234	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000566950;RCV000699239;RCV000482204	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793234
Clinvar_Rec_6962	rs1554297523	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000527294	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554297523
Clinvar_Rec_6963	rs63750236	Likely benign	Hereditary nonpolyposis colon cancer	RCV000551160	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs63750236
Clinvar_Rec_6964	rs63750236	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000582571;RCV000199308	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750236
Clinvar_Rec_6965	rs143235330	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000166743;RCV000462922;RCV000483914;RCV000780624	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143235330
Clinvar_Rec_6966	rs63750686	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629744	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs63750686
Clinvar_Rec_6967	rs63750686	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000165677;RCV000227646;RCV000679352	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750686
Clinvar_Rec_6968	rs63750686	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Turcot syndrome;not provided	RCV000217885;RCV000630090;RCV000765956;RCV000765956;RCV000480867	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750686
Clinvar_Rec_6969	rs878854036	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000582193;RCV000545956	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854036
Clinvar_Rec_6970	rs878854036	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000565173;RCV000230656	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854036
Clinvar_Rec_6971	rs786202950	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000166027;RCV000232851;RCV000442873	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202950
Clinvar_Rec_6972	rs1562631126	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000699561	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1562631126
Clinvar_Rec_6973	rs2228007	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000777230;RCV000552910	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs2228007
Clinvar_Rec_6974	rs2228007	Benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified	RCV000130845;RCV000625104;RCV000076814;RCV000034617;RCV000121839	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs2228007
Clinvar_Rec_6975	rs587782500	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000575214;RCV000467052	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782500
Clinvar_Rec_6976	rs587782500	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000131633	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782500
Clinvar_Rec_6977	rs148642064	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000583059;RCV000123080;RCV000115658	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148642064
Clinvar_Rec_6978	rs1554297734	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630334	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554297734
Clinvar_Rec_6979	rs899935666	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000563585;RCV000798691;RCV000486658	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs899935666
Clinvar_Rec_6980	rs752665758	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000165577;RCV000629767	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs752665758
Clinvar_Rec_6981	rs373917897	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000214480;RCV000233535;RCV000485778	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373917897
Clinvar_Rec_6982	rs146848345	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Tumor susceptibility linked to germline BAP1 mutations;not provided	RCV000129313;RCV000629794;RCV000216564;RCV000589892	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614327;ORPHA289539;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146848345
Clinvar_Rec_6983	rs146848345	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000219384;RCV000205844;RCV000215100;RCV000780614	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146848345
Clinvar_Rec_6984	rs376344586	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001011562;RCV000695382	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs376344586
Clinvar_Rec_6985	rs376344586	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000216807;RCV000197213;RCV000487350	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376344586
Clinvar_Rec_6986	rs1554297760	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000536775	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554297760
Clinvar_Rec_6987	rs1562632936	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000772264;RCV000929344	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1562632936
Clinvar_Rec_6988	rs1805321	Benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Lynch syndrome I;not provided;not specified	RCV000130721;RCV000515612;RCV000030364;RCV000144645;RCV000034614;RCV000079103	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen;ORPHA144;MedGen;120435;MedGen	reviewed by expert panel	tagSNP	rs1805321
Clinvar_Rec_6989	rs876661256	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000566101	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876661256
Clinvar_Rec_6990	rs876661256	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000575480;RCV000469559;RCV000222807	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661256
Clinvar_Rec_6991	rs759192470	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000164596;RCV000229726;RCV000998766;RCV000442013	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, conflicting interpretations	tagSNP	rs759192470
Clinvar_Rec_6992	rs759192470	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4	RCV000220397;RCV000662658	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614337	criteria provided, multiple submitters, no conflicts	tagSNP	rs759192470
Clinvar_Rec_6993	rs786203757	Likely benign	Hereditary cancer-predisposing syndrome	RCV000167203	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203757
Clinvar_Rec_6994	rs1305178511	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579699	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1305178511
Clinvar_Rec_6995	rs1562651786	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000687263	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1562651786
Clinvar_Rec_6996	rs372172981	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001019128;RCV000630078	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs372172981
Clinvar_Rec_6997	rs876658970	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000214138;RCV000371194	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658970
Clinvar_Rec_6998	rs786204206	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630171	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs786204206
Clinvar_Rec_6999	rs786204206	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;not provided	RCV001022873;RCV000168296;RCV000662566;RCV000485878	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204206
Clinvar_Rec_7000	rs786202835	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000165852;RCV000698379	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202835
Clinvar_Rec_7001	rs74446866	Benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified	RCV000128937;RCV000625503;RCV000076812;RCV000756560;RCV000174012	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614337;MedGen;ORPHA144;MedGen	reviewed by expert panel	LD derived	rs1805320
Clinvar_Rec_7002	rs74446866	Likely benign	Lynch syndrome	RCV000319974	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	LD derived	rs6976537
Clinvar_Rec_7003	rs74446866	Benign	Lynch syndrome	RCV000076791	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	LD derived	rs6976537
Clinvar_Rec_7004	rs551209067	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;not provided	RCV000115660;RCV000227751;RCV000987828;RCV000588840	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen	criteria provided, conflicting interpretations	LD derived	rs540287433
Clinvar_Rec_7005	rs199951557	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided;not specified	RCV000223117;RCV000758631;RCV000229543;RCV000613399	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs186577215
Clinvar_Rec_7006	rs1114167297	Likely pathogenic	Attention deficit hyperactivity disorder;Brain atrophy;Global developmental delay;Hypoplasia of the corpus callosum;Seizures	RCV000492046;RCV000492046;RCV000492046;RCV000492046;RCV000492046	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;MedGen;MedGen;MedGen;MedGen	HP;C1263846;143465;406506008;Human Phenotype Ontology;C4551584;Human Phenotype Ontology;C0557874;Human Phenotype Ontology;C0344482;Human Phenotype Ontology;C0036572	no assertion criteria provided	tagSNP	rs1114167297
Clinvar_Rec_7007	rs556540837	Conflicting interpretations of pathogenicity	Familial cancer of breast;Familial medullary thyroid carcinoma;Hereditary cancer-predisposing syndrome;Hirschsprung Disease, Dominant;Hirschsprung disease;Medullary thyroid carcinoma;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;Pheochromocytoma;Renal hypodysplasia/aplasia 1;not provided;not specified;not specified	RCV000754613;RCV000014962;RCV000130367;RCV000312825;RCV000148769;RCV000419149;RCV000370653;RCV000441584;RCV000664360;RCV000436831;RCV000664350;RCV000664354;RCV000431156;RCV000664395;RCV000426589;RCV000014963;RCV000400976;RCV000034771;RCV000235206;RCV000664371	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;MedGen;OMIM;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;155240;ORPHA99361;MedGen;ORPHA140162;699346009;MedGen;C0019569;ORPHA388;204739008;Human Phenotype Ontology;C536914;C0238462;ORPHA1332;255032005;MedGen;ORPHA276161;46724008;MeSH;C0025267;131100;ORPHA652;30664006;MedGen;ORPHA653;61808009;MeSH;C0025268;171400;ORPHA247698;61808009;MeSH;C0025268;171400;ORPHA247698;61808009;MeSH;C0025268;171400;ORPHA247698;61808009;MeSH;C0025269;162300;ORPHA247709;6153000;61530001;MeSH;C0025269;162300;ORPHA247709;6153000;61530001;MedGen;610755;ORPHA276152;Human Phenotype Ontology;C0031511;171300;MedGen;191830;MedGen	criteria provided, conflicting interpretations	LD derived	rs77724903
Clinvar_Rec_7008	rs1801591	Benign/Likely benign	Glutaric aciduria, type 2;not provided;not specified	RCV000377415;RCV000676979;RCV000078134	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801591
Clinvar_Rec_7009	rs62027051	Benign	Glutaric aciduria, type 2;not specified	RCV000371483;RCV000078133	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs62027051
Clinvar_Rec_7010	rs727503918	Conflicting interpretations of pathogenicity	Glutaric aciduria, type 2;not provided	RCV000324694;RCV000153198	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs727503918
Clinvar_Rec_7011	rs116149551	Uncertain significance	Glutaric aciduria, type 2	RCV000292449	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006	criteria provided, single submitter	tagSNP	rs116149551
Clinvar_Rec_7012	rs279995	Benign	Glutaric aciduria, type 2	RCV000313076	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006	criteria provided, single submitter	LD derived	rs1803550
Clinvar_Rec_7013	rs279993	Benign	Glutaric aciduria, type 2	RCV000313076	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006	criteria provided, single submitter	LD derived	rs1803550
Clinvar_Rec_7014	rs767272289	Conflicting interpretations of pathogenicity	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome;not provided	RCV001002445;RCV000236191	MedGen;OMIM;Orphanet	C1858361;604416;ORPHA69126;MedGen	criteria provided, conflicting interpretations	tagSNP	rs767272289
Clinvar_Rec_7015	rs541057235	Uncertain significance	Hypertyrosinemia	RCV000278501	Human Phenotype Ontology;MedGen	HP;C1879362	criteria provided, single submitter	LD derived	rs200127538
Clinvar_Rec_7016	rs6991	Pathogenic	Diamond-Blackfan anemia 4	RCV000087020	MedGen;OMIM	C2675860;612527	no assertion criteria provided	tagSNP	rs6991
Clinvar_Rec_7017	rs146916445	Likely benign	Fanconi anemia	RCV000544746	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs146916445
Clinvar_Rec_7018	rs772846275	Uncertain significance	Fanconi anemia	RCV000305871	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs772846275
Clinvar_Rec_7019	rs1363536852	Uncertain significance	Fanconi anemia	RCV000630957	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1363536852
Clinvar_Rec_7020	rs138461165	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000540824;RCV000658723	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138461165
Clinvar_Rec_7021	rs1024234712	Uncertain significance	Progressive sclerosing poliodystrophy	RCV000699336	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs1024234712
Clinvar_Rec_7022	rs766196697	Conflicting interpretations of pathogenicity	Progressive sclerosing poliodystrophy;not provided	RCV000758328;RCV000188626	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs766196697
Clinvar_Rec_7023	rs1057523186	Uncertain significance	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome;not provided	RCV000765237;RCV000765237;RCV000765237;RCV000765237;RCV000758323;RCV000765237;RCV000717428;RCV000765237;RCV000423533	MedGen;OMIM;OMIM;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C1834846;157640;MedGen;258450;MedGen;603041;MedGen;613662;MedGen;203700;ORPHA726;20415001;MedGen;203700;ORPHA726;20415001;Human Phenotype Ontology;C0036572;MedGen;607459;ORPHA70595;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523186
Clinvar_Rec_7024	rs145289229	Conflicting interpretations of pathogenicity	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome;not provided;not specified	RCV000515415;RCV000515415;RCV000515415;RCV000515415;RCV000475753;RCV000515415;RCV000720206;RCV000515415;RCV000710181;RCV000188651	MedGen;OMIM;OMIM;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C1834846;157640;MedGen;258450;MedGen;603041;MedGen;613662;MedGen;203700;ORPHA726;20415001;MedGen;203700;ORPHA726;20415001;Human Phenotype Ontology;C0036572;MedGen;607459;ORPHA70595;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145289229
Clinvar_Rec_7025	rs116165908	Benign/Likely benign	Progressive sclerosing poliodystrophy;Seizures;not provided;not specified	RCV000473863;RCV000720326;RCV000858315;RCV000127558	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0205710;203700;ORPHA726;20415001;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs116165908
Clinvar_Rec_7026	rs750928338	Uncertain significance	Progressive sclerosing poliodystrophy	RCV000549492	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs750928338
Clinvar_Rec_7027	rs115109291	Conflicting interpretations of pathogenicity	Progressive sclerosing poliodystrophy;not provided	RCV000758561;RCV000514076	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs115109291
Clinvar_Rec_7028	rs540905618	Uncertain significance	Progressive sclerosing poliodystrophy	RCV000524560	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs540905618
Clinvar_Rec_7029	rs780942335	Uncertain significance	Joubert syndrome;not provided	RCV000023889;RCV000514978	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, single submitter	tagSNP	rs780942335
Clinvar_Rec_7030	rs374880057	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000324708	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs374880057
Clinvar_Rec_7031	rs886059438	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive;Qualitative or quantitative defects of beta-sarcoglycan	RCV000259645;RCV000361479	MedGen;Orphanet	CN239352;MedGen;ORPHA207063	criteria provided, single submitter	tagSNP	rs886059438
Clinvar_Rec_7032	rs183431225	Likely benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000406521;RCV000310593	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	tagSNP	rs183431225
Clinvar_Rec_7033	rs569343676	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome	RCV000458821;RCV001015758	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs569343676
Clinvar_Rec_7034	rs1560483194	Uncertain significance	Gastrointestinal stromal tumor	RCV000695358	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1560483194
Clinvar_Rec_7035	rs370128852	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome	RCV000228693;RCV001016848	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs370128852
Clinvar_Rec_7036	rs200676118	Uncertain significance	Gastrointestinal stromal tumor	RCV000470965	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs200676118
Clinvar_Rec_7037	rs200676118	Uncertain significance	Gastrointestinal stromal tumor;not provided	RCV000696315;RCV000034721	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen	criteria provided, single submitter	tagSNP	rs200676118
Clinvar_Rec_7038	rs1418641601	Uncertain significance	Gastrointestinal stromal tumor	RCV000542345	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1418641601
Clinvar_Rec_7039	rs1060501518	Uncertain significance	Gastrointestinal stromal tumor	RCV000459312	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1060501518
Clinvar_Rec_7040	rs7687358	Benign	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Idiopathic hypereosinophilic syndrome;not specified	RCV000344752;RCV001019308;RCV000403157;RCV000243112	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;607685;ORPHA3260;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7685117
Clinvar_Rec_7041	rs7687358	Benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000383574;RCV000291645	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	LD derived	rs7680422
Clinvar_Rec_7042	rs7687358	Benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000275685;RCV000363331	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	LD derived	rs1565664
Clinvar_Rec_7043	rs372098007	Uncertain significance	Gastrointestinal stromal tumor	RCV000471912	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs372098007
Clinvar_Rec_7044	rs372098007	Uncertain significance	Gastrointestinal stromal tumor	RCV000686845	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs372098007
Clinvar_Rec_7045	rs7685117	Benign	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Idiopathic hypereosinophilic syndrome;not specified	RCV000344752;RCV001019308;RCV000403157;RCV000243112	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;607685;ORPHA3260;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7685117
Clinvar_Rec_7046	rs7685117	Benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000383574;RCV000291645	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	LD derived	rs7680422
Clinvar_Rec_7047	rs7685117	Benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000275685;RCV000363331	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	LD derived	rs1565664
Clinvar_Rec_7048	rs750465940	Uncertain significance	Gastrointestinal stromal tumor	RCV000468793	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs750465940
Clinvar_Rec_7049	rs1560496172	Uncertain significance	Gastrointestinal stromal tumor	RCV000695341	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1560496172
Clinvar_Rec_7050	rs756955630	Likely benign	Gastrointestinal stromal tumor	RCV000531437	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs756955630
Clinvar_Rec_7051	rs756955630	Uncertain significance	Gastrointestinal stromal tumor	RCV000633783	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs756955630
Clinvar_Rec_7052	rs1205738556	Likely benign	Gastrointestinal stromal tumor	RCV000633922	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1205738556
Clinvar_Rec_7053	rs144933028	Conflicting interpretations of pathogenicity	Acute myeloid leukemia;Gastrointestinal stromal tumor;Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Malignant tumor of testis;Mastocytosis;Mastocytosis;Partial albinism;Partial albinism;not specified	RCV000764541;RCV000234428;RCV000764541;RCV001014023;RCV000764541;RCV000282556;RCV000764541;RCV000332028;RCV000764541;RCV000503289	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007;Human Phenotype Ontology;D046152;C0238198;606764;ORPHA44890;Human Phenotype Ontology;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;273300;363449006;Human Phenotype Ontology;C0024899;154800;ORPHA98292;Human Phenotype Ontology;C0024899;154800;ORPHA98292;Human Phenotype Ontology;C0080024;172800;ORPHA2884;6479008;Human Phenotype Ontology;C0080024;172800;ORPHA2884;6479008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144933028
Clinvar_Rec_7054	rs1553893587	Uncertain significance	Gastrointestinal stromal tumor	RCV000633827	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1553893587
Clinvar_Rec_7055	rs112950419	Benign/Likely benign	Bone marrow failure syndrome 1;not provided	RCV000321084;RCV000908697	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112496764
Clinvar_Rec_7056	rs112950419	Benign/Likely benign	Bone marrow failure syndrome 1;not provided;not specified	RCV000310610;RCV000908698;RCV000194579	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs192401229
Clinvar_Rec_7057	rs145347209	Likely benign	Bone marrow failure syndrome 1;not specified	RCV000361991;RCV000504137	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145347209
Clinvar_Rec_7058	rs144710632	Likely benign	Bone marrow failure syndrome 1	RCV000262862	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399	criteria provided, single submitter	tagSNP	rs144710632
Clinvar_Rec_7059	rs35909061	Benign/Likely benign	Primary autosomal recessive microcephaly 3;not provided;not specified	RCV000020842;RCV000890779;RCV000442166	MedGen;OMIM	C1858108;604804;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35909061
Clinvar_Rec_7060	rs143341041	Conflicting interpretations of pathogenicity	Primary autosomal recessive microcephaly 3;not provided	RCV000145483;RCV000658288	MedGen;OMIM	C1858108;604804;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143341041
Clinvar_Rec_7061	rs587783384	Uncertain significance	Primary autosomal recessive microcephaly 3	RCV000145472	MedGen;OMIM	C1858108;604804	criteria provided, single submitter	tagSNP	rs587783384
Clinvar_Rec_7062	rs747385746	Benign/Likely benign	Amyloidosis;not provided	RCV000292978;RCV000924267	Human Phenotype Ontology;MedGen;Orphanet	HP;C0002726;ORPHA69;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747385746
Clinvar_Rec_7063	rs886063409	Uncertain significance	Amyloidosis	RCV000264032	Human Phenotype Ontology;MedGen;Orphanet	HP;C0002726;ORPHA69	criteria provided, single submitter	tagSNP	rs886063409
Clinvar_Rec_7064	rs886041668	Conflicting interpretations of pathogenicity	Early infantile epileptic encephalopathy;not provided	RCV000792098;RCV000334893	MedGen;Orphanet	C4552072;ORPHA1934;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886041668
Clinvar_Rec_7065	rs1554778810	Uncertain significance	Inborn genetic diseases	RCV000623946	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554778810
Clinvar_Rec_7066	rs1346726468	Uncertain significance	Inborn genetic diseases	RCV000624232	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1346726468
Clinvar_Rec_7067	rs41514846	Likely benign	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis	RCV000263182;RCV000316110	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, single submitter	tagSNP	rs41514846
Clinvar_Rec_7068	rs138178682	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis	RCV000354561;RCV000276273	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, single submitter	tagSNP	rs138178682
Clinvar_Rec_7069	rs886063474	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis	RCV000290203;RCV000328877	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, single submitter	tagSNP	rs886063474
Clinvar_Rec_7070	rs1085307436	Pathogenic	Primary pulmonary hypertension	RCV000488791	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307436
Clinvar_Rec_7071	rs1564452667	Pathogenic	Hereditary hemorrhagic telangiectasia type 1	RCV000700413	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs1564452667
Clinvar_Rec_7072	rs886063485	Uncertain significance	Congenital disorder of glycosylation	RCV000317929	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886063485
Clinvar_Rec_7073	rs3758327	Benign	Congenital disorder of glycosylation;not provided	RCV000309328;RCV000839550	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3758327
Clinvar_Rec_7074	rs557541868	Uncertain significance	Coenzyme Q10 deficiency, primary, 7	RCV000544574	MedGen;OMIM;Orphanet	C4225392;616276;ORPHA457185	criteria provided, single submitter	LD derived	rs147142262
Clinvar_Rec_7075	rs557541868	Uncertain significance	Coenzyme Q10 deficiency, primary, 7	RCV000653264	MedGen;OMIM;Orphanet	C4225392;616276;ORPHA457185	criteria provided, single submitter	LD derived	rs147142262
Clinvar_Rec_7076	rs372008961	Uncertain significance	Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome	RCV000331867;RCV000367631	MedGen;OMIM;Orphanet;Orphanet	C2678471;611890;ORPHA53696;MedGen;ORPHA294965	criteria provided, single submitter	tagSNP	rs372008961
Clinvar_Rec_7077	rs886063494	Uncertain significance	Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome	RCV000317456;RCV000259788	MedGen;OMIM;Orphanet;Orphanet	C2678471;611890;ORPHA53696;MedGen;ORPHA294965	criteria provided, single submitter	tagSNP	rs886063494
Clinvar_Rec_7078	rs11792065	Uncertain significance	Early infantile epileptic encephalopathy	RCV000525064	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs11792065
Clinvar_Rec_7079	rs1060503492	Uncertain significance	Early infantile epileptic encephalopathy	RCV000470233	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1060503492
Clinvar_Rec_7080	rs199902257	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000264742	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs199902257
Clinvar_Rec_7081	rs1129924	Uncertain significance	Early infantile epileptic encephalopathy 5	RCV000147633	MedGen;OMIM	C3150731;613477	criteria provided, single submitter	tagSNP	rs1129924
Clinvar_Rec_7082	rs1482545101	Likely benign	Early infantile epileptic encephalopathy	RCV000636561	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1482545101
Clinvar_Rec_7083	rs13581	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000261279	MedGen	CN239232	criteria provided, single submitter	LD derived	rs113357847
Clinvar_Rec_7084	rs13581	Benign/Likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;not specified	RCV000300090;RCV000147603	MedGen	CN239232;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113357847
Clinvar_Rec_7085	rs13581	Benign/Likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Seizures;not provided;not specified	RCV000367930;RCV000715674;RCV000464944;RCV000147623	MedGen;MedGen	CN239232;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2227865
Clinvar_Rec_7086	rs1554776342	Pathogenic	Inborn genetic diseases;MENTAL RETARDATION, AUTOSOMAL DOMINANT 58;not provided	RCV000622364;RCV000678248;RCV001008142	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;618106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554776342
Clinvar_Rec_7087	rs41275930	Benign	Agammaglobulinemia 5, autosomal dominant	RCV000506087	MedGen;OMIM	C3150753;613506	criteria provided, single submitter	tagSNP	rs41275930
Clinvar_Rec_7088	rs1554826810	Uncertain significance	Congenital disorder of glycosylation type 1M	RCV000555387	MedGen;OMIM;Orphanet	C1835849;610768;ORPHA91131	criteria provided, single submitter	tagSNP	rs1554826810
Clinvar_Rec_7089	rs761385789	Uncertain significance	Congenital disorder of glycosylation	RCV000364228	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs761385789
Clinvar_Rec_7090	rs147949345	Likely benign	Dystonia 1	RCV000347963	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	LD derived	rs144267898
Clinvar_Rec_7091	rs60745320	Likely benign	Dystonia 1	RCV000324211	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs60745320
Clinvar_Rec_7092	rs186581792	Likely benign	Dystonia 1	RCV000360107	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs186581792
Clinvar_Rec_7093	rs35153737	Likely benign	Dystonia 1	RCV000265511	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs35153737
Clinvar_Rec_7094	rs199964594	Likely benign	Dystonia 1	RCV000320753	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs199964594
Clinvar_Rec_7095	rs886063521	Uncertain significance	Dystonia 1	RCV000384578	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs886063521
Clinvar_Rec_7096	rs1183	Likely benign	Dystonia 1	RCV000326607	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs1183
Clinvar_Rec_7097	rs1183	Likely benign	Dystonia 1	RCV000355909	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	LD derived	rs1045441
Clinvar_Rec_7098	rs886063524	Uncertain significance	Dystonia 1	RCV000351047	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs886063524
Clinvar_Rec_7099	rs75881350	Uncertain significance	Dystonia 1	RCV000407024	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	tagSNP	rs75881350
Clinvar_Rec_7100	rs80358235	Uncertain significance	Dystonia 1;Dystonia, early-onset atypical, with myoclonic features	RCV000020124;RCV000005489	MedGen;OMIM	C1851945;128100;na	no assertion criteria provided	tagSNP	rs80358235
Clinvar_Rec_7101	rs529094238	Uncertain significance	Dystonia 1	RCV000258916	MedGen;OMIM	C1851945;128100	no assertion criteria provided	tagSNP	rs529094238
Clinvar_Rec_7102	rs3818553	Benign/Likely benign	Dystonia 1;not specified	RCV000298379;RCV000242539	MedGen;OMIM	C1851945;128100;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2296793
Clinvar_Rec_7103	rs1057516960	Likely pathogenic	Citrullinemia type I	RCV000411464	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs1057516960
Clinvar_Rec_7104	rs556297791	Uncertain significance	Citrullinemia type I	RCV000669936	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs556297791
Clinvar_Rec_7105	rs1554982824	Uncertain significance	Citrullinemia type I	RCV000666531	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs1554982824
Clinvar_Rec_7106	rs1186517778	Uncertain significance	Cortical malformations, occipital	RCV000680029	MedGen;OMIM;Orphanet	C3279875;614115;ORPHA280640	criteria provided, single submitter	tagSNP	rs1186517778
Clinvar_Rec_7107	rs11243406	Benign/Likely benign	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Walker-Warburg congenital muscular dystrophy;not specified	RCV000560291;RCV000576701;RCV000391550;RCV000560291;RCV000576701;RCV000576701;RCV000560291;RCV000081480	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C3150415;613155;MedGen;613155;MedGen;609308;ORPHA86812;MedGen;609308;ORPHA86812;MedGen;236670;MedGen;ORPHA899;111504002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11243406
Clinvar_Rec_7108	rs7857419	Benign	Limb-Girdle Muscular Dystrophy, Recessive	RCV000262116	MedGen	CN239352	criteria provided, single submitter	tagSNP	rs7857419
Clinvar_Rec_7109	rs1554820196	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000538383;RCV000538383	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs1554820196
Clinvar_Rec_7110	rs558075773	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000693224;RCV000693224	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs558075773
Clinvar_Rec_7111	rs374149839	Likely benign	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000542139;RCV000542139	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs374149839
Clinvar_Rec_7112	rs373375060	Conflicting interpretations of pathogenicity	Amyotrophic lateral sclerosis type 4;Amyotrophic lateral sclerosis type 4;Charcot-Marie-Tooth disease;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;not provided;not specified	RCV000988270;RCV001041860;RCV000790204;RCV001041860;RCV000143816;RCV001002069	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;602433;ORPHA357043;MedGen;ORPHA166;50548001;MedGen;606002;ORPHA64753;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373375060
Clinvar_Rec_7113	rs150421712	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia	RCV000313278;RCV000370263	MedGen	CN239175;MedGen	criteria provided, single submitter	tagSNP	rs150421712
Clinvar_Rec_7114	rs150421712	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia	RCV000273166;RCV000330552	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs117229601
Clinvar_Rec_7115	rs150421712	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia	RCV000337733;RCV000375508	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs141163823
Clinvar_Rec_7116	rs543573	Benign	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia;not provided;not specified	RCV000391406;RCV000298134;RCV000713212;RCV000081696	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs543573
Clinvar_Rec_7117	rs1564541841	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000703662;RCV000703662	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs1564541841
Clinvar_Rec_7118	rs113831637	Conflicting interpretations of pathogenicity	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia;not provided	RCV000339216;RCV000300578;RCV000518711	MedGen	CN239175;MedGen	criteria provided, conflicting interpretations	tagSNP	rs113831637
Clinvar_Rec_7119	rs374091487	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia	RCV000393561;RCV000304137	MedGen	CN239175;MedGen	criteria provided, single submitter	tagSNP	rs374091487
Clinvar_Rec_7120	rs1375463032	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000533100;RCV000533100	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs1375463032
Clinvar_Rec_7121	rs376022544	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2;not provided	RCV001042487;RCV001042487;RCV000713201	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376022544
Clinvar_Rec_7122	rs121434377	Pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000002375	MedGen;OMIM;Orphanet	C1853761;606002;ORPHA64753	no assertion criteria provided	tagSNP	rs121434377
Clinvar_Rec_7123	rs369470593	Uncertain significance	Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	RCV000527749;RCV000527749	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1865409;602433;ORPHA357043;MedGen;606002;ORPHA64753	criteria provided, single submitter	tagSNP	rs369470593
Clinvar_Rec_7124	rs397514821	not provided	Tuberous sclerosis syndrome	RCV000054952	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514821
Clinvar_Rec_7125	rs886063578	Uncertain significance	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000308713;RCV000398714	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs886063578
Clinvar_Rec_7126	rs397514782	not provided	Tuberous sclerosis syndrome	RCV000054887	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514782
Clinvar_Rec_7127	rs886063586	Uncertain significance	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000390223;RCV000338959	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs886063586
Clinvar_Rec_7128	rs886063587	Uncertain significance	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000299441;RCV000356534	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs886063587
Clinvar_Rec_7129	rs749746550	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV000574109;RCV000689229	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs749746550
Clinvar_Rec_7130	rs1216169846	Uncertain significance	Tuberous sclerosis 1	RCV000641993	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1216169846
Clinvar_Rec_7131	rs768624733	Uncertain significance	Acute myeloid leukemia	RCV000761141	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	no assertion criteria provided	tagSNP	rs768624733
Clinvar_Rec_7132	rs397514806	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	RCV001020306;RCV000054927;RCV000831184	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397514806
Clinvar_Rec_7133	rs1554812610	Uncertain significance	Tuberous sclerosis 1	RCV000556565	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554812610
Clinvar_Rec_7134	rs769478982	Likely benign	Tuberous sclerosis 1	RCV000642070	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs769478982
Clinvar_Rec_7135	rs1060503214	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV000572644;RCV000467181	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060503214
Clinvar_Rec_7136	rs200908079	Benign/Likely benign	Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000318765;RCV000163800;RCV000375592;RCV000234154;RCV000176365	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140352085
Clinvar_Rec_7137	rs1564477496	Uncertain significance	Tuberous sclerosis 1	RCV000693923	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1564477496
Clinvar_Rec_7138	rs786203007	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV000166123;RCV000543698	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203007
Clinvar_Rec_7139	rs1554815274	Likely benign	Tuberous sclerosis 1	RCV000530354	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554815274
Clinvar_Rec_7140	rs1379334013	Uncertain significance	Tuberous sclerosis 1	RCV000689742	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1379334013
Clinvar_Rec_7141	rs747452647	Likely benign	Tuberous sclerosis 1	RCV000642090	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs747452647
Clinvar_Rec_7142	rs939275328	Uncertain significance	Tuberous sclerosis 1	RCV000552146	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs939275328
Clinvar_Rec_7143	rs397514796	not provided	Tuberous sclerosis syndrome	RCV000054908	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514796
Clinvar_Rec_7144	rs1554815756	Uncertain significance	Tuberous sclerosis 1	RCV000525430	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554815756
Clinvar_Rec_7145	rs1038140620	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001013533;RCV000542404	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1038140620
Clinvar_Rec_7146	rs118203592	not provided	Tuberous sclerosis syndrome	RCV000042096	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203592
Clinvar_Rec_7147	rs118203592	not provided	Tuberous sclerosis syndrome	RCV000042097	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203592
Clinvar_Rec_7148	rs375534013	Conflicting interpretations of pathogenicity	Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	RCV000393416;RCV000563693;RCV000054947;RCV000642084	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375534013
Clinvar_Rec_7149	rs754401816	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV001013415;RCV000536952	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs754401816
Clinvar_Rec_7150	rs754401816	Uncertain significance	Tuberous sclerosis 1	RCV000701703	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs754401816
Clinvar_Rec_7151	rs786203799	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167260	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203799
Clinvar_Rec_7152	rs118203571	not provided	Tuberous sclerosis syndrome	RCV000042073	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203571
Clinvar_Rec_7153	rs548002938	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000574453;RCV000189813	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs548002938
Clinvar_Rec_7154	rs118203564	Pathogenic	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome	RCV000491128;RCV000042066	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs118203564
Clinvar_Rec_7155	rs765149885	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV001012341;RCV000475896	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs765149885
Clinvar_Rec_7156	rs118203546	not provided	Tuberous sclerosis syndrome	RCV000042048	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203546
Clinvar_Rec_7157	rs1564482313	Uncertain significance	Tuberous sclerosis 1	RCV000700189	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1564482313
Clinvar_Rec_7158	rs118203545	not provided	Tuberous sclerosis syndrome	RCV000042046	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203545
Clinvar_Rec_7159	rs118203544	Pathogenic	Tuberous sclerosis 1;Tuberous sclerosis syndrome	RCV000227889;RCV000042045	MedGen;OMIM;Orphanet;SNOMED CT	C1854465;191100;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs118203544
Clinvar_Rec_7160	rs529941136	Likely benign	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000327208;RCV000271593	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	LD derived	rs572231078
Clinvar_Rec_7161	rs565526877	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV001025559;RCV000641970	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	LD derived	rs535397245
Clinvar_Rec_7162	rs8176747	Benign	ABO blood group system;Three Vessel Coronary Disease	RCV000019312;RCV001003444	MedGen;OMIM;SNOMED CT	C0000778;616093;63915006;MedGen	no assertion criteria provided	tagSNP	rs8176747
Clinvar_Rec_7163	rs1564349176	Pathogenic	Leigh syndrome	RCV000754104	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	no assertion criteria provided	tagSNP	rs1564349176
Clinvar_Rec_7164	rs202135735	Benign	Charcot-Marie-Tooth disease, type 4k;not provided;not specified	RCV001001690;RCV000427963;RCV000128343	MedGen;OMIM;Orphanet	C4225246;616684;ORPHA391351;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs41296099
Clinvar_Rec_7165	rs202135735	Benign	Charcot-Marie-Tooth disease, type 4k;not provided;not specified	RCV001001691;RCV000424363;RCV000128339	MedGen;OMIM;Orphanet	C4225246;616684;ORPHA391351;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116779216
Clinvar_Rec_7166	rs555826102	Likely benign	Ehlers-Danlos syndrome, type 7A	RCV000292470	MedGen	C3508773	criteria provided, single submitter	tagSNP	rs555826102
Clinvar_Rec_7167	rs774095835	Uncertain significance	Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type	RCV000246721;RCV000472394	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	CN230736;MedGen;130000;ORPHA287;20766005;83470009	criteria provided, multiple submitters, no conflicts	tagSNP	rs774095835
Clinvar_Rec_7168	rs61737708	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 7A;not provided;not specified	RCV000618882;RCV000369207;RCV000461997;RCV000124485	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61737708
Clinvar_Rec_7169	rs1564446117	Pathogenic	Ehlers-Danlos syndrome, classic type	RCV000704329	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1564446117
Clinvar_Rec_7170	rs140486644	Uncertain significance	Ehlers-Danlos syndrome, classic type;not provided	RCV001038080;RCV000198537	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140486644
Clinvar_Rec_7171	rs1554799402	Likely pathogenic	Thoracic aortic aneurysm and aortic dissection	RCV000600683	MedGen;Orphanet	C4707243;ORPHA91387	no assertion criteria provided	tagSNP	rs1554799402
Clinvar_Rec_7172	rs144985214	Uncertain significance	Ehlers-Danlos syndrome, classic type;not specified	RCV001047916;RCV000414656	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144985214
Clinvar_Rec_7173	rs1244102860	Likely benign	Connective tissue disease	RCV000659449	MedGen	C0009782	criteria provided, single submitter	tagSNP	rs1244102860
Clinvar_Rec_7174	rs1554803568	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000634631	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1554803568
Clinvar_Rec_7175	rs187584029	Benign/Likely benign	Connective tissue disease;not provided;not specified	RCV000659454;RCV000474185;RCV000200238	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs187584029
Clinvar_Rec_7176	rs373448943	Uncertain significance	Ehlers-Danlos syndrome, classic type;not provided	RCV000203954;RCV000482273	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373448943
Clinvar_Rec_7177	rs13946	Benign	Ehlers-Danlos syndrome, type 7A	RCV000323531	MedGen	C3508773	criteria provided, single submitter	tagSNP	rs13946
Clinvar_Rec_7178	rs886063680	Uncertain significance	Ehlers-Danlos syndrome, type 7A	RCV000269646	MedGen	C3508773	criteria provided, single submitter	tagSNP	rs886063680
Clinvar_Rec_7179	rs1134170	Benign	Ehlers-Danlos syndrome, type 7A	RCV000292278	MedGen	C3508773	criteria provided, single submitter	tagSNP	rs1134170
Clinvar_Rec_7180	rs189283960	Likely benign	Posterior Polymorphous Corneal Dystrophy	RCV000397714	MedGen	CN239252	criteria provided, single submitter	LD derived	rs201807082
Clinvar_Rec_7181	rs58058232	Likely benign	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	RCV000382988	MedGen;OMIM;Orphanet	C2675204;612674;ORPHA171848	criteria provided, single submitter	tagSNP	rs58058232
Clinvar_Rec_7182	rs62206868	Benign	Bohring-Opitz syndrome	RCV000269874	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	LD derived	rs62206933
Clinvar_Rec_7183	rs145699348	Conflicting interpretations of pathogenicity	Bohring-Opitz syndrome;not provided	RCV000353113;RCV000974488	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145699348
Clinvar_Rec_7184	rs376229687	Uncertain significance	Bohring-Opitz syndrome	RCV000313477	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs376229687
Clinvar_Rec_7185	rs373486603	Uncertain significance	Bohring-Opitz syndrome	RCV000273509	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs373486603
Clinvar_Rec_7186	rs886056601	Uncertain significance	Bohring-Opitz syndrome	RCV000309886	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs886056601
Clinvar_Rec_7187	rs587778062	Likely benign	Bohring-Opitz syndrome;not provided;not specified	RCV000315916;RCV000903990;RCV000120109	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778062
Clinvar_Rec_7188	rs1555912709	Pathogenic	Bohring-Opitz syndrome	RCV000578410	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	no assertion criteria provided	tagSNP	rs1555912709
Clinvar_Rec_7189	rs2295764	Benign	Bohring-Opitz syndrome	RCV000386449	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs2295764
Clinvar_Rec_7190	rs886056609	Uncertain significance	Bohring-Opitz syndrome	RCV000312016	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs886056609
Clinvar_Rec_7191	rs199791897	Uncertain significance	Hypermethioninemia	RCV000341284	Human Phenotype Ontology;MedGen	HP;C4048705	criteria provided, single submitter	tagSNP	rs199791897
Clinvar_Rec_7192	rs886056642	Conflicting interpretations of pathogenicity	Gluthathione synthetase deficiency;not specified	RCV000402933;RCV000420233	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0398746;266130;ORPHA32;234589002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886056642
Clinvar_Rec_7193	rs886056645	Uncertain significance	Aicardi Goutieres syndrome;Chilblain Lupus	RCV000405283;RCV000303345	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006;MedGen	criteria provided, single submitter	tagSNP	rs886056645
Clinvar_Rec_7194	rs192004528	Uncertain significance	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2	RCV000703053;RCV000703053	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470	criteria provided, single submitter	LD derived	rs200828190
Clinvar_Rec_7195	rs199523839	Uncertain significance	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2	RCV000537883;RCV000537883	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470	criteria provided, single submitter	LD derived	rs201408175
Clinvar_Rec_7196	rs183011135	Conflicting interpretations of pathogenicity	Leber congenital amaurosis;not provided	RCV000260046;RCV000945780	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs183011135
Clinvar_Rec_7197	rs114426854	Conflicting interpretations of pathogenicity	Leber congenital amaurosis;not provided	RCV000303267;RCV000878193	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114426854
Clinvar_Rec_7198	rs2803195	Benign	Leber congenital amaurosis	RCV000328053	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	criteria provided, single submitter	tagSNP	rs2803195
Clinvar_Rec_7199	rs2803195	Benign	Leber congenital amaurosis;Leber congenital amaurosis 1;not specified	RCV000367055;RCV000987744;RCV000153451	MeSH;MedGen;Orphanet;SNOMED CT;OMIM	D057130;C0339527;ORPHA65;193413001;MedGen;204000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2655655
Clinvar_Rec_7200	rs185190995	Uncertain significance	Stargardt Disease, Dominant	RCV000359040	MedGen	CN239307	criteria provided, single submitter	tagSNP	rs185190995
Clinvar_Rec_7201	rs1131690770	Pathogenic	Retinal dystrophy;Stargardt Disease 3;not provided	RCV001074586;RCV000005226;RCV001070892	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;600110;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1131690770
Clinvar_Rec_7202	rs9352818	Benign	Maple syrup urine disease	RCV000338517	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs926733
Clinvar_Rec_7203	rs9352818	Benign	Maple syrup urine disease	RCV000312717	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs926732
Clinvar_Rec_7204	rs9352818	Benign	Maple syrup urine disease	RCV000348834	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs926731
Clinvar_Rec_7205	rs9352818	Benign	Maple syrup urine disease	RCV000324200	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs4706838
Clinvar_Rec_7206	rs9352818	Benign	Maple syrup urine disease	RCV000280897	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs4706118
Clinvar_Rec_7207	rs9352818	Benign	Maple syrup urine disease	RCV000349945	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs4706839
Clinvar_Rec_7208	rs9352818	Benign	Maple syrup urine disease	RCV000306621	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs4502885
Clinvar_Rec_7209	rs9352818	Benign	Maple syrup urine disease	RCV000397289	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs1042367
Clinvar_Rec_7210	rs9352818	Benign	Maple syrup urine disease	RCV000304701	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs1042368
Clinvar_Rec_7211	rs9352818	Benign	Maple syrup urine disease	RCV000260047	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs3805848
Clinvar_Rec_7212	rs9352818	Benign	Maple syrup urine disease	RCV000374633	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs7758761
Clinvar_Rec_7213	rs9352818	Benign	Maple syrup urine disease	RCV000330559	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs7740932
Clinvar_Rec_7214	rs9352818	Benign	Maple syrup urine disease	RCV000389776	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs7759304
Clinvar_Rec_7215	rs9352818	Benign	Maple syrup urine disease	RCV000295762	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs7740958
Clinvar_Rec_7216	rs9352818	Benign	Maple syrup urine disease	RCV000381873	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs15062
Clinvar_Rec_7217	rs9352818	Benign	Maple syrup urine disease	RCV000289821	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	LD derived	rs10864
Clinvar_Rec_7218	rs587777565	Pathogenic	Immunodeficiency 23	RCV000128847	MedGen;OMIM;Orphanet	C4014371;615816;ORPHA443811	criteria provided, single submitter	tagSNP	rs587777565
Clinvar_Rec_7219	rs886061816	Uncertain significance	Congenital disorder of glycosylation	RCV000356125	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886061816
Clinvar_Rec_7220	rs539612966	Uncertain significance	Congenital disorder of glycosylation	RCV000362919	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs539612966
Clinvar_Rec_7221	rs922257267	Uncertain significance	Neurofibromatosis, type 1	RCV000551965	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs922257267
Clinvar_Rec_7222	rs922257267	Uncertain significance	Neurofibromatosis, type 1	RCV000632294	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs922257267
Clinvar_Rec_7223	rs1555611610	Likely pathogenic	Neurofibromatosis, type 1	RCV000557922	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555611610
Clinvar_Rec_7224	rs1555533290	Pathogenic	Neurofibromatosis, type 1	RCV000533524	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555533290
Clinvar_Rec_7225	rs1131691123	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000492361	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131691123
Clinvar_Rec_7226	rs1131691123	Uncertain significance	Neurofibromatosis, type 1	RCV000632328	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1131691123
Clinvar_Rec_7227	rs1555533304	Likely benign	Neurofibromatosis, type 1	RCV000632603	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555533304
Clinvar_Rec_7228	rs1135402867	Pathogenic	Neurofibromatosis, type 1	RCV000497219	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	no assertion criteria provided	tagSNP	rs1135402867
Clinvar_Rec_7229	rs1135402867	Pathogenic/Likely pathogenic	Cafe-au-lait spot;Neurofibromatosis, type 1	RCV000626646;RCV000660070	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0221263;MedGen;162200;ORPHA636;92824003	criteria provided, multiple submitters, no conflicts	tagSNP	rs1135402867
Clinvar_Rec_7230	rs1060500384	Uncertain significance	Neurofibromatosis, type 1	RCV000462713	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1060500384
Clinvar_Rec_7231	rs1555533351	Likely benign	Neurofibromatosis, type 1	RCV000632585	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555533351
Clinvar_Rec_7232	rs372169109	Uncertain significance	Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1	RCV000222301;RCV000534588	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;162200;ORPHA636;92824003	criteria provided, multiple submitters, no conflicts	tagSNP	rs372169109
Clinvar_Rec_7233	rs28363292	Likely benign	Breast and Ovarian Cancer Susceptibility	RCV000356588	MedGen	CN239207	criteria provided, single submitter	tagSNP	rs28363292
Clinvar_Rec_7234	rs138969595	Conflicting interpretations of pathogenicity	Breast and Ovarian Cancer Susceptibility;Breast-ovarian cancer, familial 4;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000331029;RCV000411668;RCV000709425;RCV000129828;RCV000859034;RCV000254688	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN239207;MedGen;614291;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138969595
Clinvar_Rec_7235	rs374318553	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776661	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs374318553
Clinvar_Rec_7236	rs755265519	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000708750	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs755265519
Clinvar_Rec_7237	rs886052818	Uncertain significance	Breast and Ovarian Cancer Susceptibility;Hereditary cancer-predisposing syndrome	RCV000295654;RCV000775245	MedGen;Orphanet;SNOMED CT	CN239207;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs886052818
Clinvar_Rec_7238	rs886052818	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564262	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs886052818
Clinvar_Rec_7239	rs200615280	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776978	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs200615280
Clinvar_Rec_7240	rs200615280	Uncertain significance	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	RCV000226954;RCV000130324;RCV000589378	MedGen;OMIM;Orphanet;SNOMED CT	C3280345;614291;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200615280
Clinvar_Rec_7241	rs764657253	Uncertain significance	Infantile Refsum's disease;Peroxisome biogenesis disorder 3A	RCV000674189;RCV000674189	MedGen;OMIM;SNOMED CT;OMIM	C3550693;266510;238062008;MedGen;614859	criteria provided, single submitter	tagSNP	rs764657253
Clinvar_Rec_7242	rs1366848752	Uncertain significance	Infantile Refsum's disease;Peroxisome biogenesis disorder 3A	RCV000667630;RCV000667630	MedGen;OMIM;SNOMED CT;OMIM	C3550693;266510;238062008;MedGen;614859	criteria provided, single submitter	tagSNP	rs1366848752
Clinvar_Rec_7243	rs879075660	Uncertain significance	Infantile Refsum's disease;Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 3A	RCV000672165;RCV000371870;RCV000672165	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM	C3550693;266510;238062008;MedGen;214100;ORPHA912;MedGen;614859	criteria provided, multiple submitters, no conflicts	tagSNP	rs879075660
Clinvar_Rec_7244	rs745967175	Uncertain significance	Hyperphosphatasia with mental retardation syndrome 5	RCV000699266	MedGen;OMIM	C4014958;616025	criteria provided, single submitter	tagSNP	rs745967175
Clinvar_Rec_7245	rs10962	Benign	Familial hypoplastic, glomerulocystic kidney	RCV000398593	MedGen;OMIM;SNOMED CT	C0431693;137920;253864004	criteria provided, single submitter	tagSNP	rs10962
Clinvar_Rec_7246	rs751817675	Uncertain significance	Familial hypoplastic, glomerulocystic kidney	RCV000356378	MedGen;OMIM;SNOMED CT	C0431693;137920;253864004	criteria provided, single submitter	tagSNP	rs751817675
Clinvar_Rec_7247	rs1555833051	Uncertain significance	Monogenic diabetes	RCV000664147	MedGen;Orphanet	C3888631;ORPHA183625	criteria provided, single submitter	tagSNP	rs1555833051
Clinvar_Rec_7248	rs147816724	Conflicting interpretations of pathogenicity	Monogenic diabetes;Renal cysts and diabetes syndrome;not specified	RCV000664148;RCV000787251;RCV000440404	MedGen;Orphanet;Orphanet	C3888631;ORPHA183625;MedGen;ORPHA93111;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147816724
Clinvar_Rec_7249	rs1555574254	drug response	all trans retinoic acid (ATRA) response	RCV000171543	MedGen	CN230750	no assertion criteria provided	tagSNP	rs1555574254
Clinvar_Rec_7250	rs1555605081	Likely benign	Hereditary cancer-predisposing syndrome;Meningioma, familial	RCV001017424;RCV000544350	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;607174;ORPHA263662	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555605081
Clinvar_Rec_7251	rs773859296	Uncertain significance	Hereditary cancer-predisposing syndrome;Meningioma, familial	RCV001017267;RCV000457140	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;607174;ORPHA263662	criteria provided, multiple submitters, no conflicts	tagSNP	rs773859296
Clinvar_Rec_7252	rs367908836	Uncertain significance	Meningioma, familial	RCV000554024	MedGen;OMIM;Orphanet	C3551915;607174;ORPHA263662	criteria provided, single submitter	tagSNP	rs367908836
Clinvar_Rec_7253	rs1555605748	Uncertain significance	Hereditary cancer-predisposing syndrome;Meningioma, familial	RCV000561525;RCV000537940	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;607174;ORPHA263662	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555605748
Clinvar_Rec_7254	rs140670556	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769485;RCV000253125;RCV000233472;RCV000154628	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140670556
Clinvar_Rec_7255	rs782145797	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Naxos disease;not specified	RCV000795191;RCV000795191;RCV000183494	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs782145797
Clinvar_Rec_7256	rs570878629	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiovascular phenotype;Naxos disease;Naxos disease;not provided;not specified	RCV000393399;RCV000692565;RCV000253975;RCV000315534;RCV000692565;RCV000656851;RCV000156554	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1969081;611528;MedGen;611528;MedGen;601214;ORPHA34217;MedGen;601214;ORPHA34217;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs570878629
Clinvar_Rec_7257	rs372896892	Pathogenic	Osteogenesis imperfecta type 12	RCV000033069	MedGen;OMIM	C3151433;613849	no assertion criteria provided	tagSNP	rs372896892
Clinvar_Rec_7258	rs145786768	Likely benign	Hyper-IgE syndrome	RCV000299414	MedGen;Orphanet	CN236381;ORPHA331223	criteria provided, single submitter	tagSNP	rs145786768
Clinvar_Rec_7259	rs144298843	Uncertain significance	Familial partial lipodystrophy	RCV000263356	MedGen;Orphanet;SNOMED CT	C0271694;ORPHA98306;49292002	criteria provided, single submitter	LD derived	rs143895719
Clinvar_Rec_7260	rs148241491	Uncertain significance	Familial partial lipodystrophy	RCV000373231	MedGen;Orphanet;SNOMED CT	C0271694;ORPHA98306;49292002	criteria provided, single submitter	tagSNP	rs148241491
Clinvar_Rec_7261	rs1250949842	Likely pathogenic	Mucopolysaccharidosis, MPS-III-B	RCV000665801	MedGen;OMIM;Orphanet;SNOMED CT	C0086648;252920;ORPHA79270;59990008	criteria provided, single submitter	tagSNP	rs1250949842
Clinvar_Rec_7262	rs540874574	Uncertain significance	Sanfilippo syndrome	RCV000317108	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	LD derived	rs538885425
Clinvar_Rec_7263	rs543600234	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257699	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs562553169
Clinvar_Rec_7264	rs61754325	Likely benign	Pseudohypoaldosteronism type 2A	RCV000338395	MedGen;OMIM;Orphanet;SNOMED CT	C1840389;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs61754325
Clinvar_Rec_7265	rs532485841	Uncertain significance	Glycogen storage disease, type I	RCV000344308	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs532485841
Clinvar_Rec_7266	rs200866570	Benign/Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000411645;RCV000130822;RCV000119141;RCV000123931	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs376836050
Clinvar_Rec_7267	rs1555574370	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001078068;RCV000509674	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555574370
Clinvar_Rec_7268	rs80357326	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001077603;RCV000777020	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357326
Clinvar_Rec_7269	rs80357326	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000112701;RCV001024267	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357326
Clinvar_Rec_7270	rs786201502	Likely benign	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000467023;RCV000528581	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs786201502
Clinvar_Rec_7271	rs786201502	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000495434;RCV000163767;RCV000470941	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786201502
Clinvar_Rec_7272	rs80357721	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000112693;RCV000049034;RCV000564883	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357721
Clinvar_Rec_7273	rs730881500	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV001078008;RCV000467034;RCV000218401;RCV000160012	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881500
Clinvar_Rec_7274	rs587782340	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001077524;RCV000131269	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782340
Clinvar_Rec_7275	rs730881498	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001077481;RCV000697764;RCV001024149	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881498
Clinvar_Rec_7276	rs80356890	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000112475;RCV000048749;RCV000163024;RCV000212192	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80356890
Clinvar_Rec_7277	rs879255283	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000239167;RCV000539566;RCV000565393	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs879255283
Clinvar_Rec_7278	rs1135401881	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661175;RCV000496810	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1135401881
Clinvar_Rec_7279	rs760922019	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495447;RCV000774934;RCV000472156;RCV000436073	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs760922019
Clinvar_Rec_7280	rs760922019	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001077972;RCV000777121	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs760922019
Clinvar_Rec_7281	rs879255491	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001077967;RCV000573217	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs879255491
Clinvar_Rec_7282	rs879255491	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000238607	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs879255491
Clinvar_Rec_7283	rs876659314	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV001077958;RCV000706562;RCV000222202;RCV000588966	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659314
Clinvar_Rec_7284	rs8176170	Benign	Breast-ovarian cancer, familial 1	RCV000191370	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs8176170
Clinvar_Rec_7285	rs1567788391	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001065370;RCV000772417	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567788391
Clinvar_Rec_7286	rs80356886	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112225	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80356886
Clinvar_Rec_7287	rs886041144	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000637752;RCV001021647;RCV000259337	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041144
Clinvar_Rec_7288	rs786202068	Likely benign	Breast-ovarian cancer, familial 1	RCV000495028	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs786202068
Clinvar_Rec_7289	rs786202068	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164698	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202068
Clinvar_Rec_7290	rs80357560	Pathogenic	Breast-ovarian cancer, familial 1	RCV000112205	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357560
Clinvar_Rec_7291	rs786202569	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000165434;RCV000924812	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202569
Clinvar_Rec_7292	rs786202569	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166592	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202569
Clinvar_Rec_7293	rs140588714	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000411118;RCV000162630;RCV000586109;RCV000508688	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs140588714
Clinvar_Rec_7294	rs140588714	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166161	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs140588714
Clinvar_Rec_7295	rs140588714	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112619	MedGen;OMIM	C2676676;604370	no assertion criteria provided	LD derived	rs273901763
Clinvar_Rec_7296	rs1060505051	Pathogenic	Breast-ovarian cancer, familial 1;Neoplasm of the breast;not provided	RCV000477785;RCV000504599;RCV000985405	MedGen;OMIM;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs1060505051
Clinvar_Rec_7297	rs758329415	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000495550;RCV001020789;RCV000930200	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs758329415
Clinvar_Rec_7298	rs786203310	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166562	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203310
Clinvar_Rec_7299	rs398122675	Likely benign	Breast-ovarian cancer, familial 1	RCV000495442	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs398122675
Clinvar_Rec_7300	rs398122675	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not provided	RCV000802342;RCV000587458	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398122675
Clinvar_Rec_7301	rs398122675	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000077127	MedGen;OMIM	C2676676;604370	criteria provided, single submitter	tagSNP	rs398122675
Clinvar_Rec_7302	rs80357827	Pathogenic	Breast-ovarian cancer, familial 1	RCV000112079	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357827
Clinvar_Rec_7303	rs397509059	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256763	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs397509059
Clinvar_Rec_7304	rs863224759	Uncertain significance	Breast cancer, susceptibility to;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000656462;RCV000198369;RCV001020072	MedGen;MedGen;Orphanet;Orphanet;SNOMED CT	C3469522;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224759
Clinvar_Rec_7305	rs80356949	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000112078;RCV000048162;RCV000129260;RCV000235634	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80356949
Clinvar_Rec_7306	rs80357334	Likely benign	Hereditary cancer-predisposing syndrome	RCV000774516	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357334
Clinvar_Rec_7307	rs80357334	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031106;RCV000048160;RCV000164761;RCV000586936	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357334
Clinvar_Rec_7308	rs80357923	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000112030;RCV000048101	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80357923
Clinvar_Rec_7309	rs528254652	Likely benign	Breast-ovarian cancer, familial 1;not provided;not specified	RCV000495677;RCV000465547;RCV000432640	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	tagSNP	rs528254652
Clinvar_Rec_7310	rs1555588214	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637610;RCV001019158	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555588214
Clinvar_Rec_7311	rs80357311	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031085;RCV000048061;RCV000132486;RCV000589797;RCV000420120	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80357311
Clinvar_Rec_7312	rs80357547	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000111994;RCV000496435	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80357547
Clinvar_Rec_7313	rs1429701835	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000584464;RCV000606014	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1429701835
Clinvar_Rec_7314	rs1567793093	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773889	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567793093
Clinvar_Rec_7315	rs1135401855	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661333;RCV000496417	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1135401855
Clinvar_Rec_7316	rs886038008	Pathogenic	Breast-ovarian cancer, familial 1	RCV000240981	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886038008
Clinvar_Rec_7317	rs886040092	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257694	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040092
Clinvar_Rec_7318	rs80357601	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000019238;RCV000048039;RCV000163096;RCV000159912	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357601
Clinvar_Rec_7319	rs1555588553	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000532861	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555588553
Clinvar_Rec_7320	rs886040089	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257495	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040089
Clinvar_Rec_7321	rs760588785	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216079	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs760588785
Clinvar_Rec_7322	rs397509029	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164583	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs397509029
Clinvar_Rec_7323	rs876659270	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000238878;RCV000813770;RCV000217575;RCV000480997	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659270
Clinvar_Rec_7324	rs886038006	Pathogenic	Breast-ovarian cancer, familial 1	RCV000241193	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886038006
Clinvar_Rec_7325	rs730881487	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000409417;RCV000205367	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881487
Clinvar_Rec_7326	rs886040086	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257727	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040086
Clinvar_Rec_7327	rs80357080	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000700169	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs80357080
Clinvar_Rec_7328	rs80357080	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000083191;RCV000509848	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357080
Clinvar_Rec_7329	rs878854940	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	RCV000661054;RCV000233519;RCV000481177	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs878854940
Clinvar_Rec_7330	rs1567793641	Benign	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001003376;RCV000817352;RCV000772921	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs1567793641
Clinvar_Rec_7331	rs80357893	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111961	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357893
Clinvar_Rec_7332	rs80357478	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000700278;RCV000566526;RCV000496848	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357478
Clinvar_Rec_7333	rs80357478	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111962	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80357478
Clinvar_Rec_7334	rs431825394	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000083031;RCV000130827;RCV000656787;RCV000159973	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs431825394
Clinvar_Rec_7335	rs431825394	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000638005;RCV000214055;RCV000587620	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs431825394
Clinvar_Rec_7336	rs756559408	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000468440;RCV000580777	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756559408
Clinvar_Rec_7337	rs876660682	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000221647	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660682
Clinvar_Rec_7338	rs1060502344	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000469264;RCV001016835	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502344
Clinvar_Rec_7339	rs1060504553	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001016891;RCV000471884;RCV000616448	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504553
Clinvar_Rec_7340	rs80357890	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000111958;RCV000496267;RCV001016861	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357890
Clinvar_Rec_7341	rs80357559	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111957;RCV000129427	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357559
Clinvar_Rec_7342	rs730881443	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000637682;RCV000213875;RCV000159847	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881443
Clinvar_Rec_7343	rs397509021	Pathogenic	Breast-ovarian cancer, familial 1;Familial cancer of breast	RCV000660915;RCV000576923	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397509021
Clinvar_Rec_7344	rs1555588803	Pathogenic	Breast-ovarian cancer, familial 1	RCV000661127	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555588803
Clinvar_Rec_7345	rs80357693	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111954	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357693
Clinvar_Rec_7346	rs80356878	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111955	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80356878
Clinvar_Rec_7347	rs80356878	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637436;RCV000166226	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80356878
Clinvar_Rec_7348	rs1567793946	Uncertain significance	Breast and/or ovarian cancer	RCV000770746	MedGen	CN221562	criteria provided, single submitter	tagSNP	rs1567793946
Clinvar_Rec_7349	rs397509019	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	RCV000256568;RCV001053715;RCV000657209	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs397509019
Clinvar_Rec_7350	rs1555588840	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561826	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555588840
Clinvar_Rec_7351	rs80357822	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000111935;RCV000575066;RCV000657210	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357822
Clinvar_Rec_7352	rs80357812	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000083189;RCV000047965;RCV000213211;RCV000236621	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357812
Clinvar_Rec_7353	rs80357460	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111936;RCV000130481	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357460
Clinvar_Rec_7354	rs80357460	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167154	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357460
Clinvar_Rec_7355	rs1555588988	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509936	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555588988
Clinvar_Rec_7356	rs397507203	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000031066;RCV000637760;RCV001016383	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507203
Clinvar_Rec_7357	rs397509002	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided;not specified	RCV000225470;RCV000047941;RCV000484764;RCV000506839	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs397509002
Clinvar_Rec_7358	rs1057522242	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575802;RCV000944969;RCV000443328	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522242
Clinvar_Rec_7359	rs80357035	Pathogenic	Breast-ovarian cancer, familial 1	RCV000031065	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357035
Clinvar_Rec_7360	rs80357035	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000229677;RCV000130465	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357035
Clinvar_Rec_7361	rs886040046	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257294	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040046
Clinvar_Rec_7362	rs1085308034	Pathogenic	Breast-ovarian cancer, familial 1	RCV000490545	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1085308034
Clinvar_Rec_7363	rs1555589466	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000555456;RCV000565654	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555589466
Clinvar_Rec_7364	rs80357435	Uncertain significance	Breast-ovarian cancer, familial 1;not provided	RCV000111884;RCV000480963	MedGen;OMIM	C2676676;604370;MedGen	criteria provided, single submitter	tagSNP	rs80357435
Clinvar_Rec_7365	rs751656678	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000792748;RCV000509855;RCV000759507	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751656678
Clinvar_Rec_7366	rs757383244	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000537494;RCV000582678;RCV000585609	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757383244
Clinvar_Rec_7367	rs757383244	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001070978;RCV000575873	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs757383244
Clinvar_Rec_7368	rs786202215	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000695556;RCV000164931;RCV000590464	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786202215
Clinvar_Rec_7369	rs786202054	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000495751;RCV000164674	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786202054
Clinvar_Rec_7370	rs397508967	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000257456;RCV000496752	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs397508967
Clinvar_Rec_7371	rs397508967	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000257821;RCV000525232	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs397508967
Clinvar_Rec_7372	rs28897682	Benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077518;RCV000162593;RCV000167805;RCV000047836	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs28897682
Clinvar_Rec_7373	rs886040035	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257338	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040035
Clinvar_Rec_7374	rs770460699	Pathogenic	Breast-ovarian cancer, familial 1	RCV000241119	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs770460699
Clinvar_Rec_7375	rs80356982	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000077516;RCV000496431	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80356982
Clinvar_Rec_7376	rs80356982	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166373	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80356982
Clinvar_Rec_7377	rs1555589731	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581356	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555589731
Clinvar_Rec_7378	rs876660005	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000691468	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs876660005
Clinvar_Rec_7379	rs876660005	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000616046;RCV000462014;RCV000217281	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660005
Clinvar_Rec_7380	rs80357546	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111840	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357546
Clinvar_Rec_7381	rs398122658	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568515	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs398122658
Clinvar_Rec_7382	rs398122658	Uncertain significance	Breast and/or ovarian cancer	RCV000735504	MedGen	CN221562	no assertion criteria provided	tagSNP	rs398122658
Clinvar_Rec_7383	rs398122658	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000077104;RCV000696457	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs398122658
Clinvar_Rec_7384	rs398122657	Pathogenic	Breast-ovarian cancer, familial 1	RCV000077102	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs398122657
Clinvar_Rec_7385	rs80357364	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	RCV000111839;RCV000047818;RCV000167276;RCV000240714;RCV000588791	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357364
Clinvar_Rec_7386	rs886040019	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256727	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040019
Clinvar_Rec_7387	rs1555590136	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257327	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555590136
Clinvar_Rec_7388	rs80357051	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000111801;RCV000214807;RCV000767205;RCV000486164	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357051
Clinvar_Rec_7389	rs80357051	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000111802;RCV000216743;RCV000047767;RCV000439548	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80357051
Clinvar_Rec_7390	rs80357936	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111792	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357936
Clinvar_Rec_7391	rs80357982	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111791	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357982
Clinvar_Rec_7392	rs80357982	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257677	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357982
Clinvar_Rec_7393	rs587781781	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000526532	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs587781781
Clinvar_Rec_7394	rs587781781	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637351;RCV000130031	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781781
Clinvar_Rec_7395	rs748550848	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001057152;RCV000570542	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs748550848
Clinvar_Rec_7396	rs80357233	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031032;RCV000047730;RCV000162851;RCV000074571	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357233
Clinvar_Rec_7397	rs80357233	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000241146;RCV000573407	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357233
Clinvar_Rec_7398	rs886040001	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000257560;RCV000496405	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040001
Clinvar_Rec_7399	rs1555590395	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000696958;RCV000570229	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555590395
Clinvar_Rec_7400	rs786202015	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164607	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202015
Clinvar_Rec_7401	rs876659959	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000800757;RCV000220616	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659959
Clinvar_Rec_7402	rs80357182	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568237	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357182
Clinvar_Rec_7403	rs80357182	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031028;RCV000709482;RCV000129531;RCV000314335	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80357182
Clinvar_Rec_7404	rs80357182	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077093;RCV000205141;RCV000131616;RCV000767161;RCV000478406	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80357182
Clinvar_Rec_7405	rs786201649	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000494827;RCV000164039	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786201649
Clinvar_Rec_7406	rs80357192	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111774;RCV000213201	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357192
Clinvar_Rec_7407	rs587781420	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129290	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781420
Clinvar_Rec_7408	rs4986844	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735514;RCV000111772;RCV000476210;RCV000162519;RCV000047711;RCV000173831	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	CN221562;MedGen;604370;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs4986844
Clinvar_Rec_7409	rs1302055573	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509698	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1302055573
Clinvar_Rec_7410	rs397508935	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257753	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs397508935
Clinvar_Rec_7411	rs1131692077	Likely benign	Breast-ovarian cancer, familial 1	RCV000495599	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1131692077
Clinvar_Rec_7412	rs28897680	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031024;RCV000047696;RCV000129968;RCV000587889	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs28897680
Clinvar_Rec_7413	rs1555590709	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574020	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555590709
Clinvar_Rec_7414	rs80357238	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111746	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80357238
Clinvar_Rec_7415	rs1555590714	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661212;RCV000502040	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1555590714
Clinvar_Rec_7416	rs1555590724	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000540469;RCV001013944	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555590724
Clinvar_Rec_7417	rs886039988	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000257100;RCV000496498	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886039988
Clinvar_Rec_7418	rs1567797385	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000695052;RCV001013939	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567797385
Clinvar_Rec_7419	rs876660889	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001040287;RCV000214150	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660889
Clinvar_Rec_7420	rs769044421	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000580623;RCV000206888;RCV000444243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769044421
Clinvar_Rec_7421	rs886039973	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257703	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886039973
Clinvar_Rec_7422	rs767595162	Pathogenic	Breast-ovarian cancer, familial 1	RCV000241272	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs767595162
Clinvar_Rec_7423	rs398122645	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000077083;RCV001065293	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs398122645
Clinvar_Rec_7424	rs760109939	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495436;RCV000163850;RCV000206679;RCV000508081	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs760109939
Clinvar_Rec_7425	rs760109939	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000637399;RCV000572707;RCV000486968	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760109939
Clinvar_Rec_7426	rs1567798263	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000694564	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1567798263
Clinvar_Rec_7427	rs80357371	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111683;RCV001013178	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357371
Clinvar_Rec_7428	rs80357371	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000775174;RCV000159958	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357371
Clinvar_Rec_7429	rs398122641	Pathogenic	Breast-ovarian cancer, familial 1	RCV000077078	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs398122641
Clinvar_Rec_7430	rs397508906	not provided	Familial cancer of breast	RCV000577440	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs397508906
Clinvar_Rec_7431	rs876659110	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000495307;RCV000218303	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876659110
Clinvar_Rec_7432	rs1060502329	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000471509	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060502329
Clinvar_Rec_7433	rs587780795	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000408996;RCV000163987;RCV000123267;RCV000506729	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs587780795
Clinvar_Rec_7434	rs587780795	Likely benign	Breast-ovarian cancer, familial 1;not provided	RCV000494756;RCV000230607	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	tagSNP	rs587780795
Clinvar_Rec_7435	rs1555591390	Pathogenic	Breast-ovarian cancer, familial 1	RCV000661247	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555591390
Clinvar_Rec_7436	rs886039962	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257575	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886039962
Clinvar_Rec_7437	rs1567798771	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001063252;RCV000777127	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567798771
Clinvar_Rec_7438	rs397508895	not provided	Familial cancer of breast	RCV000577066	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs397508895
Clinvar_Rec_7439	rs1555591482	Likely benign	Hereditary cancer-predisposing syndrome	RCV000562421	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555591482
Clinvar_Rec_7440	rs398122638	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569796	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs398122638
Clinvar_Rec_7441	rs398122638	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000077074;RCV000216485	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs398122638
Clinvar_Rec_7442	rs80357613	Pathogenic	Breast-ovarian cancer, familial 1	RCV000111651	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357613
Clinvar_Rec_7443	rs80357493	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111650;RCV000132496	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs80357493
Clinvar_Rec_7444	rs80357273	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077491;RCV000047530;RCV000214482;RCV000985370;RCV000417626	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80357273
Clinvar_Rec_7445	rs1555591596	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000661358;RCV000773635	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs1555591596
Clinvar_Rec_7446	rs1555591622	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571897	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555591622
Clinvar_Rec_7447	rs80357224	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111640	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80357224
Clinvar_Rec_7448	rs748812609	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568521	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs748812609
Clinvar_Rec_7449	rs748812609	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000239177	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs748812609
Clinvar_Rec_7450	rs369588942	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000030995;RCV000459454;RCV000130777;RCV000586346;RCV000159870	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369588942
Clinvar_Rec_7451	rs431825386	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000083021;RCV001011560	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs431825386
Clinvar_Rec_7452	rs876658280	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000214068;RCV000233237	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658280
Clinvar_Rec_7453	rs80357057	Benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000111612;RCV000584571;RCV000047470;RCV000435379	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357057
Clinvar_Rec_7454	rs80357057	Benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000111613;RCV000215347;RCV000235125;RCV000779907	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357057
Clinvar_Rec_7455	rs1135401845	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661012;RCV000496689	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1135401845
Clinvar_Rec_7456	rs533802049	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574027	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs533802049
Clinvar_Rec_7457	rs533802049	Benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000495607;RCV000163142;RCV000240797;RCV000758786;RCV000123893	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs533802049
Clinvar_Rec_7458	rs62625301	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111605;RCV000164838	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs62625301
Clinvar_Rec_7459	rs397508867	Pathogenic	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000496409;RCV000776207	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs397508867
Clinvar_Rec_7460	rs869320787	Likely benign	Breast-ovarian cancer, familial 1	RCV000210988	MedGen;OMIM	C2676676;604370	criteria provided, single submitter	tagSNP	rs869320787
Clinvar_Rec_7461	rs397508862	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000257244;RCV001071649;RCV001011250	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs397508862
Clinvar_Rec_7462	rs879253999	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000495460;RCV000570368;RCV000758785	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs879253999
Clinvar_Rec_7463	rs730881458	Pathogenic	Breast-ovarian cancer, familial 1;not provided	RCV000241342;RCV000159900	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	tagSNP	rs730881458
Clinvar_Rec_7464	rs1555591909	Pathogenic	Breast-ovarian cancer, familial 1	RCV000661283	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555591909
Clinvar_Rec_7465	rs80357597	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000111592;RCV000697117	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80357597
Clinvar_Rec_7466	rs587782784	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000471324;RCV000132330	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782784
Clinvar_Rec_7467	rs1555591993	Pathogenic	Breast-ovarian cancer, familial 1	RCV000660949	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555591993
Clinvar_Rec_7468	rs1555592003	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000496622	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	no assertion criteria provided	tagSNP	rs1555592003
Clinvar_Rec_7469	rs763051683	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000690584;RCV000561054;RCV000482955	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763051683
Clinvar_Rec_7470	rs763051683	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775180	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763051683
Clinvar_Rec_7471	rs397507183	Pathogenic	Breast-ovarian cancer, familial 1	RCV000030978	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs397507183
Clinvar_Rec_7472	rs1555592295	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566668	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555592295
Clinvar_Rec_7473	rs886039930	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256808	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886039930
Clinvar_Rec_7474	rs1131692097	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000494957;RCV000569443;RCV000938370	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs1131692097
Clinvar_Rec_7475	rs562553169	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257699	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs562553169
Clinvar_Rec_7476	rs876660558	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000241412;RCV000807369;RCV000215799	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876660558
Clinvar_Rec_7477	rs876660558	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000239246;RCV000226202;RCV000509631;RCV000781000	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660558
Clinvar_Rec_7478	rs80357612	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000030972;RCV000496290;RCV000563231	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357612
Clinvar_Rec_7479	rs80357235	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111554;RCV000575806	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80357235
Clinvar_Rec_7480	rs1567800850	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773010	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567800850
Clinvar_Rec_7481	rs80357836	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000111541;RCV000496785;RCV000510049	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357836
Clinvar_Rec_7482	rs377310179	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000495132;RCV000220240;RCV000827071	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs377310179
Clinvar_Rec_7483	rs786202159	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000495239;RCV000164835	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786202159
Clinvar_Rec_7484	rs1555592676	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000563239	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555592676
Clinvar_Rec_7485	rs431825420	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773926	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs431825420
Clinvar_Rec_7486	rs431825420	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000083078;RCV000215602	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs431825420
Clinvar_Rec_7487	rs786201634	Benign	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV001003379;RCV000701903;RCV000164011;RCV000985454	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs786201634
Clinvar_Rec_7488	rs80356836	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000111526;RCV000575991;RCV000587592;RCV000421881	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80356836
Clinvar_Rec_7489	rs886040334	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257038	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040334
Clinvar_Rec_7490	rs1057524333	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000776555;RCV000438009	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057524333
Clinvar_Rec_7491	rs397507258	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000031292;RCV001019486	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs397507258
Clinvar_Rec_7492	rs1555592770	Pathogenic	Breast-ovarian cancer, familial 1	RCV000661366	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1555592770
Clinvar_Rec_7493	rs80357844	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031289;RCV000496711;RCV000131986;RCV000235314	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357844
Clinvar_Rec_7494	rs397509337	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256934	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs397509337
Clinvar_Rec_7495	rs397509338	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	RCV000257439;RCV000416963;RCV000657623	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs397509338
Clinvar_Rec_7496	rs757936216	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495352;RCV000163236;RCV000476527;RCV000420106	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs757936216
Clinvar_Rec_7497	rs80356877	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111512	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80356877
Clinvar_Rec_7498	rs1060502359	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661231;RCV000456772	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1060502359
Clinvar_Rec_7499	rs786204261	Pathogenic	Breast-ovarian cancer, familial 1	RCV000168487	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs786204261
Clinvar_Rec_7500	rs869320786	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000210977;RCV000496715;RCV000570759	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs869320786
Clinvar_Rec_7501	rs748675395	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000821194;RCV000574826;RCV000496938	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs748675395
Clinvar_Rec_7502	rs748675395	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661318;RCV000496403	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs748675395
Clinvar_Rec_7503	rs772684048	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000537146;RCV000217932;RCV000501807	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772684048
Clinvar_Rec_7504	rs886039501	Pathogenic	Breast-ovarian cancer, familial 1;not provided	RCV000661092;RCV000255669	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	tagSNP	rs886039501
Clinvar_Rec_7505	rs730881468	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000410713;RCV001039562	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881468
Clinvar_Rec_7506	rs730881468	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000693440	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs730881468
Clinvar_Rec_7507	rs730881468	Pathogenic	Breast-ovarian cancer, familial 1;not provided	RCV000241503;RCV000159946	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	tagSNP	rs730881468
Clinvar_Rec_7508	rs776999497	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509692	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs776999497
Clinvar_Rec_7509	rs886040327	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000256674;RCV000524803	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040327
Clinvar_Rec_7510	rs771076131	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567273;RCV000466906;RCV000607407	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771076131
Clinvar_Rec_7511	rs771076131	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000510083;RCV000985447	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771076131
Clinvar_Rec_7512	rs1064793054	Pathogenic	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000779894;RCV000561776;RCV000485955	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793054
Clinvar_Rec_7513	rs56055578	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000112438;RCV000510086;RCV000152869;RCV000781013	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs56055578
Clinvar_Rec_7514	rs56055578	Uncertain significance	Breast-ovarian cancer, familial 1;not provided	RCV000083040;RCV000589873	MedGen;OMIM	C2676676;604370;MedGen	criteria provided, single submitter	tagSNP	rs56055578
Clinvar_Rec_7515	rs587779367	Likely benign	Breast-ovarian cancer, familial 1	RCV000495387	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs587779367
Clinvar_Rec_7516	rs587779367	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV001043000;RCV000564284;RCV000074580	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779367
Clinvar_Rec_7517	rs587780800	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000662699;RCV000123272	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs587780800
Clinvar_Rec_7518	rs1555601059	Uncertain significance	Breast-ovarian cancer, familial 1;not specified	RCV001076401;RCV000501500	MedGen;OMIM	C2676676;604370;MedGen	criteria provided, single submitter	tagSNP	rs1555601059
Clinvar_Rec_7519	rs748057929	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not specified	RCV001076397;RCV000775201;RCV000604283	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs748057929
Clinvar_Rec_7520	rs273897654	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000111520	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs273897654
Clinvar_Rec_7521	rs151133874	Benign	Breast-ovarian cancer, familial 1	RCV000191204	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs143338062
Clinvar_Rec_7522	rs151133874	Benign	Breast-ovarian cancer, familial 1	RCV000191216	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs149958317
Clinvar_Rec_7523	rs151133874	Benign	Breast-ovarian cancer, familial 1	RCV000191292	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs142117419
Clinvar_Rec_7524	rs151133874	Benign	Breast-ovarian cancer, familial 1	RCV000191348	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs143578208
Clinvar_Rec_7525	rs34982101	Benign	Breast-ovarian cancer, familial 1	RCV000191380	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs34293035
Clinvar_Rec_7526	rs34982101	Benign	Breast-ovarian cancer, familial 1	RCV000255302	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs146934045
Clinvar_Rec_7527	rs34982101	Benign	Breast-ovarian cancer, familial 1	RCV000191462	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176117
Clinvar_Rec_7528	rs139560078	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112619	MedGen;OMIM	C2676676;604370	no assertion criteria provided	LD derived	rs273901763
Clinvar_Rec_7529	rs139560078	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000411118;RCV000162630;RCV000586109;RCV000508688	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs140588714
Clinvar_Rec_7530	rs139560078	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166161	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	LD derived	rs140588714
Clinvar_Rec_7531	rs228758	Benign	Severe congenital neutropenia	RCV000312411	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	tagSNP	rs228758
Clinvar_Rec_7532	rs375162061	Uncertain significance	Severe congenital neutropenia 4, autosomal recessive	RCV000699257	MedGen;OMIM;Orphanet	C2675526;612541;ORPHA331176	criteria provided, single submitter	tagSNP	rs375162061
Clinvar_Rec_7533	rs375682522	Likely benign	Seizures	RCV000720215	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs375682522
Clinvar_Rec_7534	rs138704529	Uncertain significance	Frontotemporal dementia	RCV000349606	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338451;600274;ORPHA282;230270009	criteria provided, single submitter	LD derived	rs149180605
Clinvar_Rec_7535	rs138704529	Conflicting interpretations of pathogenicity	Seizures;not provided	RCV000718673;RCV000873800	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, conflicting interpretations	LD derived	rs149180605
Clinvar_Rec_7536	rs2277617	Likely benign	Primary ciliary dyskinesia	RCV000270653	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs2277617
Clinvar_Rec_7537	rs3826425	Benign	Mandibulofacial dysostosis-microcephaly syndrome;not specified	RCV000604968;RCV000116956	MedGen;OMIM;Orphanet	C1864652;610536;ORPHA79113;MedGen	criteria provided, single submitter	LD derived	rs11654183
Clinvar_Rec_7538	rs3826425	Benign/Likely benign	Primary ciliary dyskinesia;not specified	RCV000343734;RCV000243391	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs8079308
Clinvar_Rec_7539	rs3826425	Benign/Likely benign	Alexander Disease;Primary ciliary dyskinesia	RCV000331184;RCV000331524	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0270726;203450;ORPHA58;81854007;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs17027
Clinvar_Rec_7540	rs3826425	Benign/Likely benign	Alexander Disease;Primary ciliary dyskinesia;not provided	RCV000305452;RCV000401615;RCV000056816	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0270726;203450;ORPHA58;81854007;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, single submitter	LD derived	rs11558961
Clinvar_Rec_7541	rs369467067	Uncertain significance	Omodysplasia	RCV000361177	MedGen;Orphanet	C4510897;ORPHA2733	criteria provided, single submitter	tagSNP	rs369467067
Clinvar_Rec_7542	rs1566309270	Uncertain significance	Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	RCV000687019	MedGen	CN231723	criteria provided, single submitter	tagSNP	rs1566309270
Clinvar_Rec_7543	rs4150317	Conflicting interpretations of pathogenicity	Xeroderma pigmentosum;not provided	RCV000361539;RCV000968915	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs4150317
Clinvar_Rec_7544	rs148782406	Uncertain significance	Xeroderma pigmentosum	RCV000377553	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs148782406
Clinvar_Rec_7545	rs551728387	Uncertain significance	Pyruvate dehydrogenase phosphatase deficiency	RCV000306423	MedGen;OMIM;Orphanet	C1837429;608782;ORPHA79246	criteria provided, single submitter	tagSNP	rs551728387
Clinvar_Rec_7546	rs568829851	Uncertain significance	Pyruvate dehydrogenase phosphatase deficiency	RCV000323242	MedGen;OMIM;Orphanet	C1837429;608782;ORPHA79246	criteria provided, single submitter	tagSNP	rs568829851
Clinvar_Rec_7547	rs558897089	Uncertain significance	Pyruvate dehydrogenase phosphatase deficiency	RCV000403873	MedGen;OMIM;Orphanet	C1837429;608782;ORPHA79246	criteria provided, single submitter	tagSNP	rs558897089
Clinvar_Rec_7548	rs143748636	Conflicting interpretations of pathogenicity	Cone-Rod Dystrophy, Recessive;Cone-rod dystrophy 16;Retinitis Pigmentosa, Recessive;not provided	RCV000266407;RCV000625262;RCV000323905;RCV000954269	MedGen;OMIM	CN239309;MedGen;614500;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143748636
Clinvar_Rec_7549	rs769743278	Uncertain significance	Cohen syndrome;not specified	RCV000634110;RCV000518389	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769743278
Clinvar_Rec_7550	rs147342579	Uncertain significance	Cohen syndrome;not provided	RCV000555581;RCV000711298	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147342579
Clinvar_Rec_7551	rs547179338	Uncertain significance	Inborn genetic diseases	RCV000622697	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs547179338
Clinvar_Rec_7552	rs1057516633	Pathogenic/Likely pathogenic	Cohen syndrome	RCV000412236	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057516633
Clinvar_Rec_7553	rs138127778	Conflicting interpretations of pathogenicity	Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified	RCV000385723;RCV000716072;RCV000428325;RCV000118831	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138127778
Clinvar_Rec_7554	rs1057516437	Likely pathogenic	Cohen syndrome	RCV000411447	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1057516437
Clinvar_Rec_7555	rs886062549	Uncertain significance	Cohen syndrome	RCV000345287	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, multiple submitters, no conflicts	tagSNP	rs886062549
Clinvar_Rec_7556	rs1563510051	Uncertain significance	History of neurodevelopmental disorder	RCV000717508	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1563510051
Clinvar_Rec_7557	rs199727770	Uncertain significance	Ciliary dyskinesia, primary, 28	RCV000690577	MedGen;OMIM	C3809706;615505	criteria provided, single submitter	tagSNP	rs199727770
Clinvar_Rec_7558	rs754522887	Uncertain significance	Reclassified - variant of unknown significance	RCV000778075	-	-	no assertion criteria provided	tagSNP	rs754522887
Clinvar_Rec_7559	rs750848838	Uncertain significance	Familial erythrocytosis	RCV000405884	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs750848838
Clinvar_Rec_7560	rs886056080	Uncertain significance	Familial erythrocytosis	RCV000314273	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs886056080
Clinvar_Rec_7561	rs183095352	Uncertain significance	Familial erythrocytosis	RCV000321366	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs183095352
Clinvar_Rec_7562	rs115137793	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000313751	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs115137793
Clinvar_Rec_7563	rs115137793	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000371583	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs144118640
Clinvar_Rec_7564	rs115137793	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000291156	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs114662283
Clinvar_Rec_7565	rs75416242	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000364345	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs75416242
Clinvar_Rec_7566	rs137852913	Pathogenic	Factor v and factor viii, combined deficiency of, 2	RCV000003004	MedGen;OMIM	C3150889;613625	no assertion criteria provided	tagSNP	rs137852913
Clinvar_Rec_7567	rs557981380	Uncertain significance	Multiple gastrointestinal atresias	RCV000768357	MedGen;OMIM;Orphanet;SNOMED CT	C0220744;243150;ORPHA436252;95472001	criteria provided, single submitter	tagSNP	rs557981380
Clinvar_Rec_7568	rs1553431702	Pathogenic	Long QT syndrome 15	RCV000578313	MedGen;OMIM	C4015695;616249	criteria provided, single submitter	tagSNP	rs1553431702
Clinvar_Rec_7569	rs546507069	Likely benign	Long QT syndrome 1;not specified	RCV000554409;RCV000603499	MedGen;OMIM	C4551647;192500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs546507069
Clinvar_Rec_7570	rs1553431791	Uncertain significance	Romano-Ward syndrome;not provided	RCV000529499;RCV000786283	MedGen;Orphanet;SNOMED CT	C0035828;ORPHA101016;20852007;MedGen	criteria provided, single submitter	tagSNP	rs1553431791
Clinvar_Rec_7571	rs543584983	Uncertain significance	Hereditary nonpolyposis colorectal cancer type 8;Lynch syndrome	RCV000415661;RCV000232171	MedGen;OMIM;Orphanet	C2750471;613244;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs543584983
Clinvar_Rec_7572	rs587780763	Uncertain significance	Hereditary nonpolyposis colon cancer;not provided	RCV000123184;RCV000679437	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780763
Clinvar_Rec_7573	rs146480420	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided;not specified	RCV000664266;RCV000123185;RCV000589651;RCV000115770	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146480420
Clinvar_Rec_7574	rs587780764	Uncertain significance	Lynch syndrome	RCV000123186	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs587780764
Clinvar_Rec_7575	rs147958220	Uncertain significance	Lynch syndrome	RCV000204076	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs147958220
Clinvar_Rec_7576	rs769154205	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000564892;RCV000205275;RCV000237000	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769154205
Clinvar_Rec_7577	rs786202921	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000165991;RCV000478310;RCV000780455	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202921
Clinvar_Rec_7578	rs63751426	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV000547313;RCV000076606	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63751426
Clinvar_Rec_7579	rs1553350796	Likely benign	Hereditary nonpolyposis colon cancer;not specified	RCV000543368;RCV000508045	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553350796
Clinvar_Rec_7580	rs63750070	Conflicting interpretations of pathogenicity	Lynch syndrome	RCV000076625	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, conflicting interpretations	tagSNP	rs63750070
Clinvar_Rec_7581	rs63750070	Pathogenic	Lynch syndrome;Lynch syndrome I	RCV000778170;RCV000076626	MedGen;Orphanet;OMIM	C1333990;ORPHA144;MedGen;120435	reviewed by expert panel	tagSNP	rs63750070
Clinvar_Rec_7582	rs587782804	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000132363;RCV000629706	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782804
Clinvar_Rec_7583	rs1558459684	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000694159	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558459684
Clinvar_Rec_7584	rs587779167	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome I	RCV000811653;RCV000076652	MedGen;Orphanet;OMIM	C0009405;ORPHA443090;MedGen;120435	reviewed by expert panel	tagSNP	rs587779167
Clinvar_Rec_7585	rs786202651	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000571775;RCV000805974	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs786202651
Clinvar_Rec_7586	rs786202651	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000165563;RCV000630339;RCV000438502	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202651
Clinvar_Rec_7587	rs1558459826	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001025085;RCV000705112	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1558459826
Clinvar_Rec_7588	rs63751695	Pathogenic	Lynch syndrome	RCV000076657	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751695
Clinvar_Rec_7589	rs763298811	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572655	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763298811
Clinvar_Rec_7590	rs763298811	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000565649;RCV000204214	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs763298811
Clinvar_Rec_7591	rs768931909	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000213519;RCV000205308	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768931909
Clinvar_Rec_7592	rs1558459882	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000697395	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558459882
Clinvar_Rec_7593	rs63751274	Pathogenic	Lynch syndrome;not provided	RCV000076658;RCV000657646	MedGen;Orphanet	C1333990;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs63751274
Clinvar_Rec_7594	rs587779174	Pathogenic	Lynch syndrome	RCV000076683	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779174
Clinvar_Rec_7595	rs1553351595	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582237	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553351595
Clinvar_Rec_7596	rs1384841612	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000557656	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1384841612
Clinvar_Rec_7597	rs1384841612	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564448	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1384841612
Clinvar_Rec_7598	rs541325199	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000222698;RCV000476944;RCV000606897	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs541325199
Clinvar_Rec_7599	rs541325199	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000219106;RCV000475338	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	LD derived	rs55653533
Clinvar_Rec_7600	rs1212577306	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000777452;RCV000629704	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1212577306
Clinvar_Rec_7601	rs1064793655	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000579435;RCV000486985	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793655
Clinvar_Rec_7602	rs876660490	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215228	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660490
Clinvar_Rec_7603	rs1553351613	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000535190	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553351613
Clinvar_Rec_7604	rs63751307	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000567353;RCV000543104;RCV000115540	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751307
Clinvar_Rec_7605	rs587779189	Pathogenic	Lynch syndrome	RCV000076739	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779189
Clinvar_Rec_7606	rs1060502003	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000457528	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1060502003
Clinvar_Rec_7607	rs104895022	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000535003	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs104895022
Clinvar_Rec_7608	rs104895022	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000689407	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs104895022
Clinvar_Rec_7609	rs104895022	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000115546;RCV000699802;RCV000114837	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895022
Clinvar_Rec_7610	rs1296650088	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000565509;RCV000697645	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1296650088
Clinvar_Rec_7611	rs201334592	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000570441;RCV000547420;RCV000432489	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201334592
Clinvar_Rec_7612	rs201334592	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;not provided	RCV000220130;RCV000469366;RCV000411007;RCV000589679	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201334592
Clinvar_Rec_7613	rs63751004	Uncertain significance	Lynch syndrome;not specified	RCV000075998;RCV000500876	MedGen;Orphanet	C1333990;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751004
Clinvar_Rec_7614	rs63751004	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000218258;RCV000255930	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63751004
Clinvar_Rec_7615	rs587779065	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000689433	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs587779065
Clinvar_Rec_7616	rs587779065	Pathogenic	Lynch syndrome	RCV000075999	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779065
Clinvar_Rec_7617	rs587779065	Uncertain significance	Lynch syndrome;Lynch syndrome I	RCV000205553;RCV000663023	MedGen;Orphanet;OMIM	C1333990;ORPHA144;MedGen;120435	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779065
Clinvar_Rec_7618	rs774083607	Likely benign	Hereditary cancer-predisposing syndrome	RCV000570269	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs774083607
Clinvar_Rec_7619	rs774083607	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000163386;RCV000195788;RCV000605224	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774083607
Clinvar_Rec_7620	rs1558466577	Likely pathogenic	Lynch syndrome I	RCV000755026	MedGen;OMIM	C2936783;120435	criteria provided, single submitter	tagSNP	rs1558466577
Clinvar_Rec_7621	rs748115066	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571086	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs748115066
Clinvar_Rec_7622	rs748115066	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;not provided	RCV000220354;RCV000232111;RCV000662429;RCV000236110	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748115066
Clinvar_Rec_7623	rs63751147	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000583630;RCV000803709	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751147
Clinvar_Rec_7624	rs63751147	Likely pathogenic	Lynch syndrome	RCV000076002	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751147
Clinvar_Rec_7625	rs753277524	Likely benign	Lynch syndrome I;not provided;not specified	RCV000663074;RCV000679282;RCV000615942	MedGen;OMIM	C2936783;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753277524
Clinvar_Rec_7626	rs370378607	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000580948;RCV000122979;RCV000115493	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370378607
Clinvar_Rec_7627	rs774539871	Uncertain significance	Lynch syndrome	RCV000364511	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs774539871
Clinvar_Rec_7628	rs774539871	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000216074;RCV000206649	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs774539871
Clinvar_Rec_7629	rs1553356579	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564378	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553356579
Clinvar_Rec_7630	rs63750611	Pathogenic	Lynch syndrome	RCV000076055	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750611
Clinvar_Rec_7631	rs63750611	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000491315;RCV000233011;RCV000160634	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750611
Clinvar_Rec_7632	rs1553356658	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583415	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553356658
Clinvar_Rec_7633	rs1301023135	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000574450;RCV000819870	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1301023135
Clinvar_Rec_7634	rs730881781	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome I;not provided;not specified	RCV000774566;RCV000412435;RCV000547785;RCV000160645	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881781
Clinvar_Rec_7635	rs1553361185	Uncertain significance	Lynch syndrome I	RCV000662883	MedGen;OMIM	C2936783;120435	criteria provided, single submitter	tagSNP	rs1553361185
Clinvar_Rec_7636	rs267607955	Pathogenic	Lynch syndrome	RCV000076129	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267607955
Clinvar_Rec_7637	rs587781331	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided;not specified	RCV000129078;RCV000524342;RCV000210120;RCV000662718;RCV000482497;RCV000781551	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781331
Clinvar_Rec_7638	rs1553361261	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000566928	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553361261
Clinvar_Rec_7639	rs1445965781	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583346	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1445965781
Clinvar_Rec_7640	rs35107951	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	RCV000131869;RCV000524343;RCV000076170;RCV000411837;RCV000590052	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435;MedGen	criteria provided, conflicting interpretations	tagSNP	rs35107951
Clinvar_Rec_7641	rs587781314	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;not provided;not specified	RCV000129044;RCV000199801;RCV000662760;RCV000656877;RCV000485646	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587781314
Clinvar_Rec_7642	rs1212558633	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630418	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1212558633
Clinvar_Rec_7643	rs587779097	Pathogenic	Lynch syndrome	RCV000076189	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779097
Clinvar_Rec_7644	rs1553366533	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573031	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553366533
Clinvar_Rec_7645	rs763323368	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581095	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763323368
Clinvar_Rec_7646	rs1553366554	Pathogenic	Lynch syndrome	RCV000503989	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1553366554
Clinvar_Rec_7647	rs587779098	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000470390	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs587779098
Clinvar_Rec_7648	rs587779098	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000220296;RCV000630365	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779098
Clinvar_Rec_7649	rs371776176	Pathogenic	Lynch syndrome	RCV000500134	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs371776176
Clinvar_Rec_7650	rs371776176	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001013515;RCV000629911	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs371776176
Clinvar_Rec_7651	rs879254044	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573176	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs879254044
Clinvar_Rec_7652	rs786202663	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630352	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs786202663
Clinvar_Rec_7653	rs786202663	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I	RCV000165584;RCV000798282;RCV000411550	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435	criteria provided, conflicting interpretations	tagSNP	rs786202663
Clinvar_Rec_7654	rs63750203	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV001013537;RCV001071237;RCV000076313	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63750203
Clinvar_Rec_7655	rs61756468	Benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I;not provided;not specified	RCV000129036;RCV000076314;RCV000490519;RCV000587872;RCV000121562	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;120435;MedGen	reviewed by expert panel	tagSNP	rs61756468
Clinvar_Rec_7656	rs1553369013	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579590	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553369013
Clinvar_Rec_7657	rs267608009	Pathogenic	Lynch syndrome	RCV000076446	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267608009
Clinvar_Rec_7658	rs757268664	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000560982;RCV000196465;RCV000589091	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757268664
Clinvar_Rec_7659	rs757268664	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000221755;RCV000464199;RCV000780438	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757268664
Clinvar_Rec_7660	rs1553369680	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629984	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553369680
Clinvar_Rec_7661	rs780448421	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001015003;RCV000690793	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs780448421
Clinvar_Rec_7662	rs41295292	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000572885;RCV000629729;RCV000160610	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41295292
Clinvar_Rec_7663	rs1553369737	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582143	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553369737
Clinvar_Rec_7664	rs1558521925	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777487	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558521925
Clinvar_Rec_7665	rs1558521929	Uncertain significance	Lynch syndrome	RCV000758593	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1558521929
Clinvar_Rec_7666	rs774440277	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000569234;RCV000456146;RCV000585967	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774440277
Clinvar_Rec_7667	rs63750797	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;not provided;not specified	RCV000164439;RCV000541354;RCV000663223;RCV000656884;RCV000484878	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750797
Clinvar_Rec_7668	rs63750797	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000583069;RCV000524394;RCV000160622	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750797
Clinvar_Rec_7669	rs1057522891	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000580518;RCV000444214	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522891
Clinvar_Rec_7670	rs1114167836	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491221	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167836
Clinvar_Rec_7671	rs41294988	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000771457;RCV000458284;RCV000679240	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, conflicting interpretations	tagSNP	rs41294988
Clinvar_Rec_7672	rs41294988	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000567533;RCV000525094	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs41294988
Clinvar_Rec_7673	rs41294988	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	RCV000569787;RCV000627725;RCV000662751;RCV000030274;RCV000160705	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41294988
Clinvar_Rec_7674	rs876660417	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000214023;RCV001058725	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660417
Clinvar_Rec_7675	rs746060136	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571824	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs746060136
Clinvar_Rec_7676	rs558590898	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575136;RCV000756350;RCV000455691	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs558590898
Clinvar_Rec_7677	rs864622216	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000491965;RCV000204445	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622216
Clinvar_Rec_7678	rs1558656651	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000706803	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558656651
Clinvar_Rec_7679	rs1212607928	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000573478;RCV000690065	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1212607928
Clinvar_Rec_7680	rs1212607928	Uncertain significance	Lynch syndrome	RCV000758601	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1212607928
Clinvar_Rec_7681	rs587779943	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000774588;RCV000697475;RCV000115433	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779943
Clinvar_Rec_7682	rs267608038	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166348	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs267608038
Clinvar_Rec_7683	rs1553411480	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580057	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553411480
Clinvar_Rec_7684	rs1553412048	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000531010	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553412048
Clinvar_Rec_7685	rs765195534	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000216919;RCV000204219;RCV000588780	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765195534
Clinvar_Rec_7686	rs1558658986	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772462	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558658986
Clinvar_Rec_7687	rs1553412129	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000581631;RCV000629675	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553412129
Clinvar_Rec_7688	rs1553412133	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584251	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553412133
Clinvar_Rec_7689	rs587781275	Uncertain significance	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1);Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000761137;RCV000128926;RCV000168003;RCV000410809;RCV000656890;RCV000202238	MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;OMIM	C2698314;450952005;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781275
Clinvar_Rec_7690	rs554884560	Uncertain significance	Lynch syndrome	RCV000476117	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs554884560
Clinvar_Rec_7691	rs554884560	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000215096;RCV000630227;RCV000662409;RCV000220612	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs554884560
Clinvar_Rec_7692	rs786202565	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000165428	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202565
Clinvar_Rec_7693	rs786202565	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218231	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202565
Clinvar_Rec_7694	rs1453889992	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583411	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1453889992
Clinvar_Rec_7695	rs1553412217	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630161	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553412217
Clinvar_Rec_7696	rs1060502888	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000473969	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1060502888
Clinvar_Rec_7697	rs876660529	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000222183;RCV000537881	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660529
Clinvar_Rec_7698	rs1553412313	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630026	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553412313
Clinvar_Rec_7699	rs1482153450	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000550227	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1482153450
Clinvar_Rec_7700	rs1482153450	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001018376;RCV000703816	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1482153450
Clinvar_Rec_7701	rs373958499	Uncertain significance	Hereditary nonpolyposis colon cancer;not provided	RCV000814413;RCV000486950	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373958499
Clinvar_Rec_7702	rs1481054050	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574611	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1481054050
Clinvar_Rec_7703	rs1481054050	Likely benign	Lynch syndrome	RCV000758603	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1481054050
Clinvar_Rec_7704	rs1413266657	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000529561	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1413266657
Clinvar_Rec_7705	rs876658610	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583279	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658610
Clinvar_Rec_7706	rs876658610	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000216324;RCV000229706;RCV000663012;RCV000483787	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658610
Clinvar_Rec_7707	rs1553412397	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000546692	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553412397
Clinvar_Rec_7708	rs375974046	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000582598;RCV000550186	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs375974046
Clinvar_Rec_7709	rs375974046	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Lynch syndrome I;not provided	RCV000115368;RCV000528613;RCV000662663;RCV000210148;RCV000415687;RCV000212645	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen;120435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375974046
Clinvar_Rec_7710	rs1558660701	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000697706	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558660701
Clinvar_Rec_7711	rs1553412594	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000579921;RCV000629996	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553412594
Clinvar_Rec_7712	rs1553412687	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575508	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553412687
Clinvar_Rec_7713	rs1251033858	Likely pathogenic	Lynch syndrome	RCV000781998	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs1251033858
Clinvar_Rec_7714	rs576815110	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001010570;RCV000218454	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs576815110
Clinvar_Rec_7715	rs1114167752	Likely benign	Hereditary cancer-predisposing syndrome	RCV000491556	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167752
Clinvar_Rec_7716	rs1114167752	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574258	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167752
Clinvar_Rec_7717	rs768299607	Uncertain significance	Endometrial carcinoma;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Turcot syndrome	RCV000765682;RCV000765682;RCV000463389;RCV000765682	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0476089;608089;254878006;MedGen;614350;MedGen;ORPHA144;MedGen;276300;ORPHA252202;61665008	criteria provided, multiple submitters, no conflicts	tagSNP	rs768299607
Clinvar_Rec_7718	rs768299607	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583401	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768299607
Clinvar_Rec_7719	rs63751452	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001010680;RCV000459096;RCV000610092	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751452
Clinvar_Rec_7720	rs63751452	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000565821;RCV000630282	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751452
Clinvar_Rec_7721	rs63751452	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001010678;RCV000630383	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751452
Clinvar_Rec_7722	rs63749971	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000570856;RCV001063935	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63749971
Clinvar_Rec_7723	rs587779209	Pathogenic	Lynch syndrome	RCV000074646	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779209
Clinvar_Rec_7724	rs587779211	Uncertain significance	Lynch syndrome	RCV000074650	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs587779211
Clinvar_Rec_7725	rs369709529	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000563646;RCV000630343;RCV000426868	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369709529
Clinvar_Rec_7726	rs587782706	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491319	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782706
Clinvar_Rec_7727	rs587782706	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000132161;RCV000203804;RCV000480825	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782706
Clinvar_Rec_7728	rs587782706	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV001011654;RCV000199811	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782706
Clinvar_Rec_7729	rs776633437	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000164255;RCV000541776;RCV000425142	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776633437
Clinvar_Rec_7730	rs1114167803	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000491767;RCV001060245	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167803
Clinvar_Rec_7731	rs1553412866	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000554233	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553412866
Clinvar_Rec_7732	rs577713548	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000131940;RCV000819294	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs577713548
Clinvar_Rec_7733	rs1453645523	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000565828;RCV000530253	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1453645523
Clinvar_Rec_7734	rs1453645523	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000568919;RCV000818492	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1453645523
Clinvar_Rec_7735	rs759857124	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000703822	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs759857124
Clinvar_Rec_7736	rs1553412959	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561161	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553412959
Clinvar_Rec_7737	rs587779214	Likely benign	Hereditary cancer-predisposing syndrome	RCV000774597	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587779214
Clinvar_Rec_7738	rs373726731	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;not specified	RCV000219239;RCV000524115;RCV000411179;RCV000122952;RCV000218729;RCV000780476	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373726731
Clinvar_Rec_7739	rs63751234	Pathogenic	Hereditary nonpolyposis colorectal cancer type 5	RCV000009488	MedGen;OMIM	C1833477;614350	no assertion criteria provided	tagSNP	rs63751234
Clinvar_Rec_7740	rs763712971	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged;not provided	RCV000575962;RCV000533328;RCV000761146;RCV000679216	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763712971
Clinvar_Rec_7741	rs587783056	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I	RCV000216742;RCV000542464;RCV000780461;RCV000144627	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435	criteria provided, multiple submitters, no conflicts	tagSNP	rs587783056
Clinvar_Rec_7742	rs752435825	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000525457	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs752435825
Clinvar_Rec_7743	rs1421598686	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777570	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1421598686
Clinvar_Rec_7744	rs1114167777	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000491160;RCV000630373	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167777
Clinvar_Rec_7745	rs267608050	Pathogenic	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000564199;RCV000074686	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs267608050
Clinvar_Rec_7746	rs587781616	Uncertain significance	Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Turcot syndrome;not provided	RCV000765684;RCV000129705;RCV000200701;RCV000765684;RCV000708871;RCV000765684;RCV000587763	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0476089;608089;254878006;MedGen;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781616
Clinvar_Rec_7747	rs1114167770	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000490905	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167770
Clinvar_Rec_7748	rs786201676	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5	RCV000164078;RCV000814908;RCV000409963	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201676
Clinvar_Rec_7749	rs1553413217	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580753	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553413217
Clinvar_Rec_7750	rs1553413220	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000564549;RCV000811647	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553413220
Clinvar_Rec_7751	rs63750564	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000629964	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs63750564
Clinvar_Rec_7752	rs63750564	Pathogenic	Lynch syndrome	RCV000074690	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750564
Clinvar_Rec_7753	rs730881793	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	RCV000160673;RCV000524120;RCV000410091;RCV000304378;RCV000212653	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881793
Clinvar_Rec_7754	rs730881793	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000165560;RCV000168072;RCV000479956	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881793
Clinvar_Rec_7755	rs772363120	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000570791;RCV000535515	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs772363120
Clinvar_Rec_7756	rs772363120	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome	RCV000575424;RCV000524121;RCV000410099;RCV000210205	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144	criteria provided, conflicting interpretations	tagSNP	rs772363120
Clinvar_Rec_7757	rs767285340	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573743	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs767285340
Clinvar_Rec_7758	rs767285340	Uncertain significance	Lynch syndrome	RCV000226833	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs767285340
Clinvar_Rec_7759	rs750800736	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583603	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs750800736
Clinvar_Rec_7760	rs876658604	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000221157	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658604
Clinvar_Rec_7761	rs1553413271	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000664276;RCV000629742	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553413271
Clinvar_Rec_7762	rs1553413281	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000555274	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553413281
Clinvar_Rec_7763	rs1553413281	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572194	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553413281
Clinvar_Rec_7764	rs1553413281	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000562869;RCV000702891	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553413281
Clinvar_Rec_7765	rs761433489	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581390	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs761433489
Clinvar_Rec_7766	rs786203468	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166785	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203468
Clinvar_Rec_7767	rs1553413349	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564675	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553413349
Clinvar_Rec_7768	rs1558663789	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000774323;RCV001042028	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1558663789
Clinvar_Rec_7769	rs1057520324	Likely benign	Hereditary nonpolyposis colon cancer;not specified	RCV000630240;RCV000439714	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520324
Clinvar_Rec_7770	rs1057520324	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001013927;RCV000418439	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520324
Clinvar_Rec_7771	rs587778532	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not specified	RCV000774599;RCV000199087;RCV000663104;RCV000121580	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778532
Clinvar_Rec_7772	rs760494271	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs760494271
Clinvar_Rec_7773	rs765289515	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000491045;RCV000471664;RCV000600881	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765289515
Clinvar_Rec_7774	rs765289515	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000533430	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs765289515
Clinvar_Rec_7775	rs1460598011	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000572638;RCV000798635	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1460598011
Clinvar_Rec_7776	rs786201606	Likely benign	Hereditary cancer-predisposing syndrome	RCV000772390	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201606
Clinvar_Rec_7777	rs786201606	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000163959;RCV000233698;RCV000437754	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201606
Clinvar_Rec_7778	rs786204048	Pathogenic	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000491742;RCV000167893	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs786204048
Clinvar_Rec_7779	rs1221484522	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV001014567;RCV000812831;RCV000679223	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1221484522
Clinvar_Rec_7780	rs749711246	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000572538;RCV000550483	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs749711246
Clinvar_Rec_7781	rs1553413559	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629771	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553413559
Clinvar_Rec_7782	rs876658848	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000219217	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658848
Clinvar_Rec_7783	rs1553413582	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566625	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553413582
Clinvar_Rec_7784	rs1553413583	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564325	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553413583
Clinvar_Rec_7785	rs876658887	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000222330;RCV000981402;RCV000438943	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658887
Clinvar_Rec_7786	rs769668640	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562620;RCV000557875	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769668640
Clinvar_Rec_7787	rs730881817	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000491170;RCV000205769;RCV000663327;RCV000587383	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881817
Clinvar_Rec_7788	rs786202129	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164788	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202129
Clinvar_Rec_7789	rs876660934	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629993	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs876660934
Clinvar_Rec_7790	rs876660934	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000219984;RCV000473229;RCV000985831	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660934
Clinvar_Rec_7791	rs876661025	Pathogenic	Hereditary nonpolyposis colon cancer;not provided	RCV000688578;RCV000216101	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661025
Clinvar_Rec_7792	rs142246608	Likely benign	Hereditary cancer-predisposing syndrome	RCV000568778	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs142246608
Clinvar_Rec_7793	rs142246608	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000491890;RCV000205571	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142246608
Clinvar_Rec_7794	rs1553413648	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567400	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553413648
Clinvar_Rec_7795	rs142172006	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000491104;RCV000630296	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142172006
Clinvar_Rec_7796	rs142172006	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162764;RCV000589413;RCV000421153	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142172006
Clinvar_Rec_7797	rs754870044	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000490895;RCV000228212;RCV000418244	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754870044
Clinvar_Rec_7798	rs587779238	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000572114;RCV000629860	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779238
Clinvar_Rec_7799	rs1275700361	Likely benign	Hereditary nonpolyposis colon cancer	RCV000554107	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1275700361
Clinvar_Rec_7800	rs1553413868	Uncertain significance	Endometrial carcinoma;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Turcot syndrome	RCV000765688;RCV000554932;RCV000765688;RCV000765688	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	HP;C0476089;608089;254878006;MedGen;ORPHA443090;MedGen;614350;MedGen;276300;ORPHA252202;61665008	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553413868
Clinvar_Rec_7801	rs1553413868	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001015748;RCV000629854	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553413868
Clinvar_Rec_7802	rs902748383	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000579453;RCV000461814	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs902748383
Clinvar_Rec_7803	rs1553413887	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000543433	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553413887
Clinvar_Rec_7804	rs764816440	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV001016203;RCV000553546;RCV000484043	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764816440
Clinvar_Rec_7805	rs561217424	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491716	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs561217424
Clinvar_Rec_7806	rs561217424	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000218914;RCV000694383	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs561217424
Clinvar_Rec_7807	rs786202628	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000165532	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202628
Clinvar_Rec_7808	rs786202628	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000222312;RCV000818639;RCV000507745	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202628
Clinvar_Rec_7809	rs1114167741	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000491594;RCV000629880	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167741
Clinvar_Rec_7810	rs863224625	Uncertain significance	Lynch syndrome	RCV000196152	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs863224625
Clinvar_Rec_7811	rs1114167799	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000490914	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167799
Clinvar_Rec_7812	rs749539614	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582964	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs749539614
Clinvar_Rec_7813	rs749539614	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562706;RCV000197309	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749539614
Clinvar_Rec_7814	rs1436232875	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000580164;RCV000695435	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1436232875
Clinvar_Rec_7815	rs1553414065	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580775	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553414065
Clinvar_Rec_7816	rs773837927	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000774603;RCV000630374	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773837927
Clinvar_Rec_7817	rs773837927	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001016422;RCV000629915	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs773837927
Clinvar_Rec_7818	rs753967199	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000215893;RCV000423814	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753967199
Clinvar_Rec_7819	rs758873844	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000218606;RCV000629928;RCV000486781	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758873844
Clinvar_Rec_7820	rs1553414130	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562102	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414130
Clinvar_Rec_7821	rs1553414131	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000542367	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553414131
Clinvar_Rec_7822	rs587779248	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564303	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587779248
Clinvar_Rec_7823	rs587779248	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000216149;RCV000759853;RCV000429794	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779248
Clinvar_Rec_7824	rs587781318	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000129055;RCV000205831;RCV000212670	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781318
Clinvar_Rec_7825	rs1057519255	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I	RCV000562226;RCV001048708;RCV000415629	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057519255
Clinvar_Rec_7826	rs1114167757	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491193	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167757
Clinvar_Rec_7827	rs1553414175	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630002	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553414175
Clinvar_Rec_7828	rs143520357	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000131640;RCV000205918;RCV000412088;RCV000212672	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143520357
Clinvar_Rec_7829	rs878853723	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000571874;RCV000231932;RCV000581651	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853723
Clinvar_Rec_7830	rs1558666921	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000692805	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558666921
Clinvar_Rec_7831	rs878853724	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000566894;RCV000234719	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs878853724
Clinvar_Rec_7832	rs778079788	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630371	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs778079788
Clinvar_Rec_7833	rs1553414236	Uncertain significance	Hereditary nonpolyposis colon cancer;not specified	RCV000697683;RCV000583331	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, single submitter	tagSNP	rs1553414236
Clinvar_Rec_7834	rs876660185	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215234	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660185
Clinvar_Rec_7835	rs1553414252	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000532698	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553414252
Clinvar_Rec_7836	rs1558667093	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772875	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1558667093
Clinvar_Rec_7837	rs772786755	Likely benign	Hereditary nonpolyposis colon cancer;not specified	RCV000544878;RCV000613357	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772786755
Clinvar_Rec_7838	rs863224330	Likely benign	Lynch syndrome	RCV000198857	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs863224330
Clinvar_Rec_7839	rs150683226	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000163540;RCV000411849;RCV000759854;RCV000440970	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150683226
Clinvar_Rec_7840	rs1553414294	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000565907;RCV001044004	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414294
Clinvar_Rec_7841	rs139026662	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000221101;RCV000410698;RCV000232387;RCV000160723	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139026662
Clinvar_Rec_7842	rs1558667779	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001018123;RCV000689536	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1558667779
Clinvar_Rec_7843	rs587780675	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162464;RCV000122960;RCV000507567	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780675
Clinvar_Rec_7844	rs587780675	Likely benign	Lynch syndrome	RCV000200409	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs587780675
Clinvar_Rec_7845	rs587781593	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000688027	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs587781593
Clinvar_Rec_7846	rs587781593	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000129648;RCV000459156;RCV000480608	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781593
Clinvar_Rec_7847	rs1553414407	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573950	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414407
Clinvar_Rec_7848	rs768925694	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565431	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs768925694
Clinvar_Rec_7849	rs768925694	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000570481;RCV000758675	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, conflicting interpretations	tagSNP	rs768925694
Clinvar_Rec_7850	rs876658356	Likely benign	Hereditary cancer-predisposing syndrome	RCV000214588	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658356
Clinvar_Rec_7851	rs1114167707	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491165	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167707
Clinvar_Rec_7852	rs1553414519	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	RCV001018672;RCV000630021;RCV000781601;RCV000656573	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414519
Clinvar_Rec_7853	rs1399581663	Likely benign	Hereditary nonpolyposis colon cancer	RCV000555204	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1399581663
Clinvar_Rec_7854	rs1399581663	Likely benign	Hereditary cancer-predisposing syndrome	RCV000774378	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1399581663
Clinvar_Rec_7855	rs587781673	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574082;RCV000929341	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781673
Clinvar_Rec_7856	rs587781673	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000129832;RCV000410297;RCV000221076	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781673
Clinvar_Rec_7857	rs587781673	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000564450;RCV000691133;RCV000160689	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781673
Clinvar_Rec_7858	rs1553414532	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561631	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553414532
Clinvar_Rec_7859	rs1553414533	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000566542;RCV000700890	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414533
Clinvar_Rec_7860	rs1553414533	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574831;RCV000943772	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553414533
Clinvar_Rec_7861	rs1558668258	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000689670	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558668258
Clinvar_Rec_7862	rs587779931	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000216957;RCV000630122;RCV000115400	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779931
Clinvar_Rec_7863	rs1244049824	Likely benign	Hereditary nonpolyposis colon cancer	RCV000556064	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1244049824
Clinvar_Rec_7864	rs1244049824	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001018783;RCV000629822	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1244049824
Clinvar_Rec_7865	rs1114167753	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491653	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167753
Clinvar_Rec_7866	rs1114167753	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000565247;RCV000758677	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs1114167753
Clinvar_Rec_7867	rs1173733811	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575895;RCV000920556	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1173733811
Clinvar_Rec_7868	rs876659857	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000218237;RCV000629719	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659857
Clinvar_Rec_7869	rs587780676	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000579750;RCV000122962	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780676
Clinvar_Rec_7870	rs984296149	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581499	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs984296149
Clinvar_Rec_7871	rs762990595	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000583642;RCV000600613	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762990595
Clinvar_Rec_7872	rs911338946	Likely benign	Hereditary cancer-predisposing syndrome	RCV000777592	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs911338946
Clinvar_Rec_7873	rs3136335	Benign	Hereditary cancer-predisposing syndrome;not specified	RCV000580890;RCV000126830	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3136335
Clinvar_Rec_7874	rs1553331228	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629907	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553331228
Clinvar_Rec_7875	rs1437555847	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000570771;RCV000926322	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1437555847
Clinvar_Rec_7876	rs1060502944	Uncertain significance	Lynch syndrome;not specified	RCV000460492;RCV000503759	MedGen;Orphanet	C1333990;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502944
Clinvar_Rec_7877	rs759260316	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000230740	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs759260316
Clinvar_Rec_7878	rs370353868	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001019819;RCV000553191	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs370353868
Clinvar_Rec_7879	rs758782048	Uncertain significance	Hereditary nonpolyposis colon cancer;not provided	RCV000818061;RCV000478262	MedGen;Orphanet	C0009405;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758782048
Clinvar_Rec_7880	rs1553331510	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630062	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553331510
Clinvar_Rec_7881	rs1165839059	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000693676	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1165839059
Clinvar_Rec_7882	rs876658315	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000217989;RCV000811918	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658315
Clinvar_Rec_7883	rs781676597	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000579610;RCV000525940	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs781676597
Clinvar_Rec_7884	rs1114167711	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491771	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167711
Clinvar_Rec_7885	rs1026907245	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000773087;RCV000538370;RCV000582165	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1026907245
Clinvar_Rec_7886	rs786203968	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000167501;RCV000937681	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203968
Clinvar_Rec_7887	rs786203968	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000564868;RCV000204275	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203968
Clinvar_Rec_7888	rs748398941	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000568727;RCV000469909;RCV000663017;RCV000521217	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748398941
Clinvar_Rec_7889	rs1298129961	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580875	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1298129961
Clinvar_Rec_7890	rs182871847	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000580466;RCV000408958;RCV000471309;RCV000781605	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs182871847
Clinvar_Rec_7891	rs182871847	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided;not specified	RCV000579665;RCV000662552;RCV000587059;RCV000115418	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182871847
Clinvar_Rec_7892	rs1464965737	Likely benign	Hereditary nonpolyposis colon cancer	RCV000559786	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1464965737
Clinvar_Rec_7893	rs1553332959	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000573671;RCV001049439	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553332959
Clinvar_Rec_7894	rs864622384	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000773068;RCV000205009;RCV000780468	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622384
Clinvar_Rec_7895	rs864622384	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000217278;RCV000874582;RCV000422813	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622384
Clinvar_Rec_7896	rs764507968	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000472968	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs764507968
Clinvar_Rec_7897	rs764507968	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000167974	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs764507968
Clinvar_Rec_7898	rs876660361	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided;not specified	RCV000218648;RCV000462482;RCV000589207;RCV000487307	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660361
Clinvar_Rec_7899	rs267608140	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000129223;RCV000204246	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs267608140
Clinvar_Rec_7900	rs863224335	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000561257;RCV000198669;RCV000614588	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224335
Clinvar_Rec_7901	rs863224335	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000219894;RCV000409551;RCV000630392	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224335
Clinvar_Rec_7902	rs267608141	Uncertain significance	Lynch syndrome	RCV000074985	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267608141
Clinvar_Rec_7903	rs863224627	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV001021786;RCV000200387;RCV000482736	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224627
Clinvar_Rec_7904	rs766073664	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773387	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs766073664
Clinvar_Rec_7905	rs1553334125	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629685	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553334125
Clinvar_Rec_7906	rs587781604	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 5;not provided	RCV000129679;RCV000659885;RCV000679211	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;614350;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781604
Clinvar_Rec_7907	rs752809310	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773084	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs752809310
Clinvar_Rec_7908	rs786203308	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166555	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203308
Clinvar_Rec_7909	rs1451012329	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000579702;RCV000478772	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1451012329
Clinvar_Rec_7910	rs886056172	Uncertain significance	Pitt-Hopkins-like syndrome	RCV000348696	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	tagSNP	rs886056172
Clinvar_Rec_7911	rs35228545	Benign	Pitt-Hopkins-like syndrome;not provided	RCV000398128;RCV000829843	MedGen;Orphanet	C4751168;ORPHA221150;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35228545
Clinvar_Rec_7912	rs35228545	Benign	Pitt-Hopkins-like syndrome	RCV000339081	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	LD derived	rs67661616
Clinvar_Rec_7913	rs886056173	Uncertain significance	Pitt-Hopkins-like syndrome	RCV000284000	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	tagSNP	rs886056173
Clinvar_Rec_7914	rs35447389	Benign	Doyne honeycomb retinal dystrophy;not provided	RCV000326473;RCV000946613	MedGen;OMIM;Orphanet	C1832174;126600;ORPHA75376;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35447389
Clinvar_Rec_7915	rs35447389	Benign	Doyne honeycomb retinal dystrophy	RCV000271190	MedGen;OMIM;Orphanet	C1832174;126600;ORPHA75376	criteria provided, single submitter	LD derived	rs111619737
Clinvar_Rec_7916	rs373984033	Uncertain significance	Corneal Dystrophy, Dominant	RCV000289486	MedGen	CN239349	criteria provided, single submitter	tagSNP	rs373984033
Clinvar_Rec_7917	rs886059929	Uncertain significance	Corneal Dystrophy, Dominant	RCV000290792	MedGen	CN239349	criteria provided, single submitter	tagSNP	rs886059929
Clinvar_Rec_7918	rs772570880	Pathogenic	Even-plus syndrome	RCV000209995	MedGen;OMIM;Orphanet	C4225180;616854;ORPHA496751	no assertion criteria provided	tagSNP	rs772570880
Clinvar_Rec_7919	rs763817505	Pathogenic	Anemia, sideroblastic, 4	RCV000209839	MedGen;OMIM	C4225428;182170	no assertion criteria provided	tagSNP	rs763817505
Clinvar_Rec_7920	rs869312766	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000210185	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs869312766
Clinvar_Rec_7921	rs375381025	Uncertain significance	Distal myopathy	RCV000318698	MedGen;Orphanet	C0751336;ORPHA599	criteria provided, single submitter	tagSNP	rs375381025
Clinvar_Rec_7922	rs121434591	Pathogenic	Amyotrophic lateral sclerosis 21;not provided	RCV000015039;RCV000517083	MedGen;OMIM	C3807521;606070;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121434591
Clinvar_Rec_7923	rs761842979	Uncertain significance	Distal myopathy	RCV000386669	MedGen;Orphanet	C0751336;ORPHA599	criteria provided, single submitter	tagSNP	rs761842979
Clinvar_Rec_7924	rs772231433	Uncertain significance	Distal myopathy	RCV000260341	MedGen;Orphanet	C0751336;ORPHA599	criteria provided, single submitter	tagSNP	rs772231433
Clinvar_Rec_7925	rs1554148872	Uncertain significance	Amyotrophic lateral sclerosis 21	RCV000532514	MedGen;OMIM	C3807521;606070	criteria provided, single submitter	tagSNP	rs1554148872
Clinvar_Rec_7926	rs368308621	Likely benign	Distal myopathy	RCV000401192	MedGen;Orphanet	C0751336;ORPHA599	criteria provided, single submitter	tagSNP	rs368308621
Clinvar_Rec_7927	rs1554128999	Pathogenic	Inborn genetic diseases	RCV000623804	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554128999
Clinvar_Rec_7928	rs786204833	Pathogenic	Mental retardation, autosomal dominant 31	RCV000169737	MedGen;OMIM;Orphanet	C4015357;616158;ORPHA438213	no assertion criteria provided	tagSNP	rs786204833
Clinvar_Rec_7929	rs778593	Likely benign	Mitochondrial complex I deficiency	RCV000355665	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs778593
Clinvar_Rec_7930	rs778593	Likely benign	Mitochondrial complex I deficiency	RCV000333463	MedGen	C2936907	criteria provided, single submitter	LD derived	rs778594
Clinvar_Rec_7931	rs1562005331	Uncertain significance	Usher syndrome, type 3B	RCV000707325	MedGen;OMIM	C3281066;614504	criteria provided, single submitter	tagSNP	rs1562005331
Clinvar_Rec_7932	rs1554106881	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2w	RCV000515533	MedGen;OMIM;Orphanet	C4225265;616625;ORPHA488333	no assertion criteria provided	tagSNP	rs1554106881
Clinvar_Rec_7933	rs201422426	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not provided;not specified	RCV000271037;RCV000437504;RCV000612807	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	LD derived	rs193036129
Clinvar_Rec_7934	rs139792503	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000336785	MedGen	CN239440	criteria provided, single submitter	LD derived	rs539203577
Clinvar_Rec_7935	rs139792503	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not specified	RCV000279906;RCV000150408	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	LD derived	rs555848272
Clinvar_Rec_7936	rs531768148	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000349699	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs531768148
Clinvar_Rec_7937	rs531768148	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000324347	MedGen	CN239440	criteria provided, single submitter	LD derived	rs530260919
Clinvar_Rec_7938	rs202086273	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000358374	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs202086273
Clinvar_Rec_7939	rs766731479	Uncertain significance	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000699939;RCV000699939	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	tagSNP	rs766731479
Clinvar_Rec_7940	rs746419756	Likely benign	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000652777;RCV000652777	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	tagSNP	rs746419756
Clinvar_Rec_7941	rs373413837	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not specified	RCV000365633;RCV000150404	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373413837
Clinvar_Rec_7942	rs367981585	Uncertain significance	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000526185;RCV000526185	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, multiple submitters, no conflicts	tagSNP	rs367981585
Clinvar_Rec_7943	rs202061556	Likely benign	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000652785;RCV000652785	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	tagSNP	rs202061556
Clinvar_Rec_7944	rs145251918	Benign/Likely benign	Nonsyndromic Hearing Loss, Mixed;not provided;not specified	RCV000382860;RCV000560299;RCV000219055	MedGen	CN239440;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs143763573
Clinvar_Rec_7945	rs104893912	Pathogenic	Glucocorticoid resistance, generalized	RCV000017538	MedGen;OMIM;Orphanet	C1841972;615962;ORPHA786	no assertion criteria provided	tagSNP	rs104893912
Clinvar_Rec_7946	rs193921137	Uncertain significance	Malignant tumor of prostate	RCV000149029	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193921137
Clinvar_Rec_7947	rs76579569	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease type 4;Mononeuropathy of the Median Nerve;not provided;not specified	RCV000229675;RCV000370361;RCV000857816;RCV000420321	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, conflicting interpretations	LD derived	rs17795193
Clinvar_Rec_7948	rs375034766	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000529185	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs375034766
Clinvar_Rec_7949	rs1561765311	Pathogenic	Charcot-Marie-Tooth disease type 4	RCV000691298	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1561765311
Clinvar_Rec_7950	rs1554121791	Likely benign	Charcot-Marie-Tooth disease;not provided	RCV000857155;RCV000529572	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs1554121791
Clinvar_Rec_7951	rs1432793	Benign/Likely benign	Charcot-Marie-Tooth disease type 4;Mononeuropathy of the Median Nerve;not provided;not specified	RCV000333654;RCV000294956;RCV000860090;RCV000118334	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1432793
Clinvar_Rec_7952	rs1057517462	Likely pathogenic	Achondrogenesis, type IB;Diastrophic dysplasia	RCV000409102;RCV000409375	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0265274;600972;ORPHA93298;14870002;MedGen;222600;ORPHA628;58561002	criteria provided, single submitter	tagSNP	rs1057517462
Clinvar_Rec_7953	rs1057517524	Likely pathogenic	Achondrogenesis, type IB;Diastrophic dysplasia	RCV000411764;RCV000411172	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0265274;600972;ORPHA93298;14870002;MedGen;222600;ORPHA628;58561002	criteria provided, single submitter	tagSNP	rs1057517524
Clinvar_Rec_7954	rs1057517474	Likely pathogenic	Achondrogenesis, type IB;Diastrophic dysplasia	RCV000412444;RCV000411814	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0265274;600972;ORPHA93298;14870002;MedGen;222600;ORPHA628;58561002	criteria provided, single submitter	tagSNP	rs1057517474
Clinvar_Rec_7955	rs886060228	Uncertain significance	Achondrogenesis;Atelosteogenesis;Diastrophic dysplasia;Osteochondrodysplasia	RCV000310982;RCV000392662;RCV000392667;RCV000356491	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0001079;ORPHA932;MedGen;43814000;MedGen;222600;ORPHA628;58561002;MedGen	criteria provided, single submitter	tagSNP	rs886060228
Clinvar_Rec_7956	rs79521091	Uncertain significance	Achondrogenesis;Atelosteogenesis;Diastrophic dysplasia;Osteochondrodysplasia	RCV000395422;RCV000311342;RCV000368386;RCV000346456	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0001079;ORPHA932;MedGen;43814000;MedGen;222600;ORPHA628;58561002;MedGen	criteria provided, single submitter	tagSNP	rs79521091
Clinvar_Rec_7957	rs200311467	Uncertain significance	46,XY sex reversal 9;Tetralogy of Fallot	RCV000705620;RCV000678773	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C4015129;616067;Human Phenotype Ontology;C0039685;187500;ORPHA3303;86299006	criteria provided, single submitter	tagSNP	rs200311467
Clinvar_Rec_7958	rs1563574497	Uncertain significance	46,XY sex reversal 9	RCV000701895	MedGen;OMIM	C4015129;616067	criteria provided, single submitter	tagSNP	rs1563574497
Clinvar_Rec_7959	rs35998713	Benign	46,XY sex reversal 9;not specified	RCV000470649;RCV000244154	MedGen;OMIM	C4015129;616067;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35998713
Clinvar_Rec_7960	rs148023627	Conflicting interpretations of pathogenicity	Trichorhinophalangeal Syndrome;not provided	RCV000366709;RCV000364263	MedGen;Orphanet	C0265255;ORPHA324764;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148023627
Clinvar_Rec_7961	rs190186284	Likely benign	Trichorhinophalangeal Syndrome;not provided	RCV000269532;RCV000981661	MedGen;Orphanet	C0265255;ORPHA324764;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs190186284
Clinvar_Rec_7962	rs1554596393	Pathogenic	Trichorhinophalangeal dysplasia type I	RCV000505386	MedGen;OMIM;SNOMED CT	C0432233;190350;254091006	no assertion criteria provided	tagSNP	rs1554596393
Clinvar_Rec_7963	rs753137261	Likely benign	Trichorhinophalangeal Syndrome	RCV000292690	MedGen;Orphanet	C0265255;ORPHA324764	criteria provided, single submitter	tagSNP	rs753137261
Clinvar_Rec_7964	rs780662536	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000397351	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs780662536
Clinvar_Rec_7965	rs1060500055	Uncertain significance	Werner syndrome	RCV000465809	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1060500055
Clinvar_Rec_7966	rs1002222882	Uncertain significance	Werner syndrome	RCV000544632	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1002222882
Clinvar_Rec_7967	rs774075901	Uncertain significance	Werner syndrome	RCV000699590	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs774075901
Clinvar_Rec_7968	rs1554520892	Uncertain significance	Werner syndrome	RCV000633222	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1554520892
Clinvar_Rec_7969	rs757065467	Uncertain significance	Werner syndrome	RCV000457881	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs757065467
Clinvar_Rec_7970	rs1060500068	Uncertain significance	Werner syndrome	RCV000460173	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1060500068
Clinvar_Rec_7971	rs1060500080	Uncertain significance	Werner syndrome	RCV000463264	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1060500080
Clinvar_Rec_7972	rs1554539890	Uncertain significance	Werner syndrome	RCV000525485	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1554539890
Clinvar_Rec_7973	rs763958615	Likely pathogenic	Hereditary spastic paraplegia;Spastic paraplegia	RCV000515830;RCV001070378	MedGen;Orphanet;SNOMED CT;MedGen	C0037773;ORPHA685;39912006;Human Phenotype Ontology;C0037772	criteria provided, multiple submitters, no conflicts	tagSNP	rs763958615
Clinvar_Rec_7974	rs761096092	Uncertain significance	Craniosynostosis;Hypogonadism with anosmia;Nonsyndromic Trigonocephaly;Osteoglophonic dysplasia;Pfeiffer syndrome	RCV000269089;RCV000361474;RCV000304467;RCV000395295;RCV000339472	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet	HP;C1849943;MedGen;ORPHA478;93559003;MedGen;166250;ORPHA2645;254144002;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259	criteria provided, single submitter	tagSNP	rs761096092
Clinvar_Rec_7975	rs750625	Benign/Likely benign	Spherocytosis type 1;Spherocytosis, Dominant;not specified	RCV000611925;RCV000379658;RCV000243612	MedGen;OMIM	C2674218;182900;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs750625
Clinvar_Rec_7976	rs750625	Benign/Likely benign	Spherocytosis type 1;Spherocytosis, Dominant;not specified	RCV000605964;RCV000357712;RCV000248795	MedGen;OMIM	C2674218;182900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs515071
Clinvar_Rec_7977	rs140266175	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000718248;RCV000890735	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140266175
Clinvar_Rec_7978	rs112277492	Uncertain significance	History of neurodevelopmental disorder	RCV000718384	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs112277492
Clinvar_Rec_7979	rs185590768	Likely benign	Idiopathic basal ganglia calcification 1	RCV000297040	MedGen;OMIM;SNOMED CT	C4551624;213600;110997000	criteria provided, single submitter	tagSNP	rs185590768
Clinvar_Rec_7980	rs73675437	Benign	Dystonia	RCV000365385	Human Phenotype Ontology;MedGen	HP;C0013421	criteria provided, single submitter	tagSNP	rs73675437
Clinvar_Rec_7981	rs73675437	Benign	Dystonia	RCV000303601	Human Phenotype Ontology;MedGen	HP;C0013421	criteria provided, single submitter	LD derived	rs73675436
Clinvar_Rec_7982	rs143321089	Likely benign	Dystonia	RCV000304945	Human Phenotype Ontology;MedGen	HP;C0013421	criteria provided, single submitter	LD derived	rs114447974
Clinvar_Rec_7983	rs200742772	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	RCV000534186;RCV000534186	MedGen;OMIM;OMIM;Orphanet	C3808964;615249;MedGen;616094;ORPHA445110	criteria provided, single submitter	tagSNP	rs200742772
Clinvar_Rec_7984	rs397509386	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	RCV000043556;RCV001068653;RCV001068653	MedGen;OMIM;OMIM;OMIM;Orphanet	C3808964;615249;MedGen;615249;MedGen;616094;ORPHA445110	criteria provided, single submitter	tagSNP	rs397509386
Clinvar_Rec_7985	rs191719106	Uncertain significance	Sanfilippo syndrome	RCV000357005	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs191719106
Clinvar_Rec_7986	rs886062955	Uncertain significance	Sanfilippo syndrome	RCV000259828	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs886062955
Clinvar_Rec_7987	rs886062956	Uncertain significance	Sanfilippo syndrome	RCV000299141	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs886062956
Clinvar_Rec_7988	rs17290755	Likely benign	Lung cancer	RCV000350473	MedGen;OMIM;SNOMED CT	C0684249;211980;187875007	criteria provided, single submitter	tagSNP	rs17290755
Clinvar_Rec_7989	rs751311059	Uncertain significance	Lung cancer	RCV000363111	MedGen;OMIM;SNOMED CT	C0684249;211980;187875007	criteria provided, single submitter	tagSNP	rs751311059
Clinvar_Rec_7990	rs886062393	Uncertain significance	Deficiency of phosphoserine phosphatase	RCV000323684	MedGen;OMIM;Orphanet;SNOMED CT	C1291463;614023;ORPHA79350;124432005	criteria provided, single submitter	tagSNP	rs886062393
Clinvar_Rec_7991	rs782246853	Pathogenic	Oocyte maturation defect 2	RCV000428882	MedGen;OMIM	C4225210;616780	no assertion criteria provided	tagSNP	rs782246853
Clinvar_Rec_7992	rs1057520307	Pathogenic	Oocyte maturation defect 2	RCV000419031	MedGen;OMIM	C4225210;616780	no assertion criteria provided	tagSNP	rs1057520307
Clinvar_Rec_7993	rs558480338	Likely benign	Hypoparathyroidism-deafness-renal disease syndrome	RCV000342415	MedGen;OMIM;Orphanet	C1840333;146255;ORPHA2237	criteria provided, single submitter	LD derived	rs138512915
Clinvar_Rec_7994	rs558480338	Likely benign	Hypoparathyroidism-deafness-renal disease syndrome;not provided	RCV000306873;RCV000832617	MedGen;OMIM;Orphanet	C1840333;146255;ORPHA2237;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs554517990
Clinvar_Rec_7995	rs202168967	Likely benign	Hypoparathyroidism-deafness-renal disease syndrome	RCV000271681	MedGen;OMIM;Orphanet	C1840333;146255;ORPHA2237	criteria provided, single submitter	tagSNP	rs202168967
Clinvar_Rec_7996	rs104894162	Pathogenic	Hypoparathyroidism-deafness-renal disease syndrome	RCV000018102	MedGen;OMIM;Orphanet	C1840333;146255;ORPHA2237	no assertion criteria provided	tagSNP	rs104894162
Clinvar_Rec_7997	rs1554898759	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1DD	RCV000621829;RCV001065773	MedGen;OMIM	CN230736;MedGen;613172	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554898759
Clinvar_Rec_7998	rs886046699	Uncertain significance	Dilated Cardiomyopathy, Dominant	RCV000357051	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs886046699
Clinvar_Rec_7999	rs1554898774	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000647179	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs1554898774
Clinvar_Rec_8000	rs569709951	Likely benign	Cardiomyopathy;Dilated cardiomyopathy 1DD;not provided;not specified	RCV000770271;RCV000473221;RCV000842176;RCV000614300	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;613172;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs569709951
Clinvar_Rec_8001	rs878854253	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000226710	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs878854253
Clinvar_Rec_8002	rs754805893	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy 1DD	RCV000622931;RCV001065342	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	C0349788;ORPHA247;253528005;281170005;MedGen;613172	criteria provided, multiple submitters, no conflicts	tagSNP	rs754805893
Clinvar_Rec_8003	rs541330074	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1DD	RCV000769262;RCV000547939	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;613172	criteria provided, multiple submitters, no conflicts	tagSNP	rs541330074
Clinvar_Rec_8004	rs397516598	Uncertain significance	Dilated cardiomyopathy 1DD;Familial dilated cardiomyopathy;not specified	RCV000691864;RCV000845397;RCV000036957	MedGen;OMIM;Orphanet	C2750995;613172;MedGen;ORPHA217607;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516598
Clinvar_Rec_8005	rs537723089	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1DD;not provided;not specified	RCV000769267;RCV000253168;RCV000363095;RCV000232829;RCV000857911;RCV000156392	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;613172;MedGen	criteria provided, conflicting interpretations	tagSNP	rs537723089
Clinvar_Rec_8006	rs41292592	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1DD;not provided;not specified	RCV000769268;RCV000621531;RCV000277895;RCV000475115;RCV000857981;RCV000036958	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;613172;MedGen	criteria provided, conflicting interpretations	tagSNP	rs41292592
Clinvar_Rec_8007	rs730880182	Uncertain significance	Dilated cardiomyopathy 1DD;Primary familial hypertrophic cardiomyopathy;not provided	RCV000477856;RCV000157431;RCV000183868	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C2750995;613172;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730880182
Clinvar_Rec_8008	rs138926584	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1DD;not provided	RCV000227865;RCV000859967	MedGen;OMIM	C2750995;613172;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138926584
Clinvar_Rec_8009	rs376380567	Likely benign	Dilated cardiomyopathy 1DD	RCV000553839	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs376380567
Clinvar_Rec_8010	rs1060503416	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000473426	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs1060503416
Clinvar_Rec_8011	rs757389650	Uncertain significance	Familial dilated cardiomyopathy;not provided	RCV000622264;RCV000484750	MedGen;Orphanet	C0340427;ORPHA217607;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757389650
Clinvar_Rec_8012	rs397516618	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1DD;not specified	RCV000803243;RCV000036990	MedGen;OMIM	C2750995;613172;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397516618
Clinvar_Rec_8013	rs1235947843	Likely benign	Dilated cardiomyopathy 1DD	RCV000647183	MedGen;OMIM	C2750995;613172	criteria provided, single submitter	tagSNP	rs1235947843
Clinvar_Rec_8014	rs74156303	Likely benign	Dilated Cardiomyopathy, Dominant	RCV000314935	MedGen	CN239310	criteria provided, single submitter	tagSNP	rs74156303
Clinvar_Rec_8015	rs753237615	Uncertain significance	Noonan syndrome-like disorder with loose anagen hair 1	RCV000318357	MedGen;OMIM	C4478716;607721	criteria provided, single submitter	tagSNP	rs753237615
Clinvar_Rec_8016	rs886046736	Uncertain significance	Noonan syndrome-like disorder with loose anagen hair 1	RCV000334915	MedGen;OMIM	C4478716;607721	criteria provided, single submitter	tagSNP	rs886046736
Clinvar_Rec_8017	rs10885478	Likely benign	Factor VII Marburg I Variant Thrombophilia	RCV000355829	MedGen	CN068943	criteria provided, single submitter	tagSNP	rs10885478
Clinvar_Rec_8018	rs549218777	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related;not specified	RCV000477421;RCV000477421;RCV000418380	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340;MedGen	criteria provided, conflicting interpretations	LD derived	rs376198104
Clinvar_Rec_8019	rs543720798	Uncertain significance	Cardiovascular phenotype	RCV000617770	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs543720798
Clinvar_Rec_8020	rs35337478	Benign	Acrocephalosyndactyly type I;Craniosynostosis;Crouzon syndrome;Isolated coronal synostosis;Jackson-Weiss syndrome;Levy-Hollister syndrome;Pfeiffer syndrome;Saethre-Chotzen syndrome;not provided;not specified	RCV000274420;RCV000387725;RCV000263901;RCV000334154;RCV000343567;RCV000384208;RCV000318785;RCV000387358;RCV000526022;RCV000254345	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;OMIM;Orphanet;SNOMED CT	C0001193;101200;ORPHA87;205258009;Human Phenotype Ontology;C1849943;Human Phenotype Ontology;D003394;C2931196;123500;ORPHA207;28861008;MedGen;123150;ORPHA1540;MedGen;149730;ORPHA2363;23817003;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259;MedGen;101400;ORPHA794;83015004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35337478
Clinvar_Rec_8021	rs1057519047	Pathogenic/Likely pathogenic	Pfeiffer syndrome;not provided	RCV000415480;RCV000731782	MedGen;OMIM;Orphanet;Orphanet;Orphanet	C0220658;101600;ORPHA710;ORPHA93258;ORPHA93259;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057519047
Clinvar_Rec_8022	rs79134213	Uncertain significance	Macular degeneration	RCV000288564	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0024437;422338006	criteria provided, single submitter	tagSNP	rs79134213
Clinvar_Rec_8023	rs121965043	Pathogenic	Ornithine aminotransferase deficiency	RCV000000179	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0599035;258870;276426004	no assertion criteria provided	tagSNP	rs121965043
Clinvar_Rec_8024	rs121965055	Pathogenic	Ornithine aminotransferase deficiency	RCV000000196	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0599035;258870;276426004	no assertion criteria provided	tagSNP	rs121965055
Clinvar_Rec_8025	rs267606925	Pathogenic	Ornithine aminotransferase deficiency	RCV000000206	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0599035;258870;276426004	no assertion criteria provided	tagSNP	rs267606925
Clinvar_Rec_8026	rs121965039	Pathogenic	Ornithine aminotransferase deficiency	RCV000000175	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0599035;258870;276426004	no assertion criteria provided	tagSNP	rs121965039
Clinvar_Rec_8027	rs886046814	Uncertain significance	Congenital erythropoietic porphyria	RCV000272394	MedGen;OMIM;Orphanet	C0162530;263700;ORPHA79277	criteria provided, single submitter	tagSNP	rs886046814
Clinvar_Rec_8028	rs1554904330	Pathogenic	Hypotonia, ataxia, and delayed development syndrome	RCV000656407	MedGen;OMIM	C4310618;617330	criteria provided, single submitter	tagSNP	rs1554904330
Clinvar_Rec_8029	rs754609693	Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	RCV000578160	MedGen;OMIM	C4225391;616277	criteria provided, single submitter	tagSNP	rs754609693
Clinvar_Rec_8030	rs150321966	Pathogenic/Likely pathogenic	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;not provided	RCV000578195;RCV000421257	MedGen;OMIM	C4225391;616277;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150321966
Clinvar_Rec_8031	rs886046865	Uncertain significance	Megaloblastic anemia	RCV000363291	Human Phenotype Ontology;MedGen	HP;C0002888	criteria provided, single submitter	tagSNP	rs886046865
Clinvar_Rec_8032	rs150014503	Uncertain significance	Megaloblastic anemia	RCV000318867	Human Phenotype Ontology;MedGen	HP;C0002888	criteria provided, single submitter	tagSNP	rs150014503
Clinvar_Rec_8033	rs775896337	Conflicting interpretations of pathogenicity	Brugada syndrome;not provided	RCV000260327;RCV000908819	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs775896337
Clinvar_Rec_8034	rs200367454	Conflicting interpretations of pathogenicity	Brugada syndrome 4;Cardiovascular phenotype;Sudden unexplained death;Ventricular fibrillation, idiopathic;not provided;not specified	RCV000693237;RCV000245027;RCV000999569;RCV000148447;RCV000766681;RCV000437912	MedGen;OMIM	C2678477;611876;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200367454
Clinvar_Rec_8035	rs769682775	Uncertain significance	Cardiovascular phenotype	RCV000617222	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs769682775
Clinvar_Rec_8036	rs111250176	Uncertain significance	Brugada syndrome;Brugada syndrome 4	RCV000297236;RCV000557766	MedGen;Orphanet;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;611876	criteria provided, multiple submitters, no conflicts	tagSNP	rs111250176
Clinvar_Rec_8037	rs759958799	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000620970;RCV000170870	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs759958799
Clinvar_Rec_8038	rs774654438	Uncertain significance	Brugada syndrome 4;not provided	RCV000646201;RCV000786282	MedGen;OMIM	C2678477;611876;MedGen	criteria provided, single submitter	tagSNP	rs774654438
Clinvar_Rec_8039	rs730880059	Conflicting interpretations of pathogenicity	Brugada syndrome 4;Cardiac arrest;not provided	RCV000810801;RCV000157131;RCV000170873	MedGen;OMIM;MedGen	C2678477;611876;Human Phenotype Ontology;C0018790;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730880059
Clinvar_Rec_8040	rs878855311	Uncertain significance	Brugada syndrome 4	RCV000228679	MedGen;OMIM	C2678477;611876	criteria provided, single submitter	tagSNP	rs878855311
Clinvar_Rec_8041	rs886046893	Uncertain significance	Brugada syndrome	RCV000333221	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs886046893
Clinvar_Rec_8042	rs148079637	Uncertain significance	Primary dilated cardiomyopathy	RCV000530611	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs148079637
Clinvar_Rec_8043	rs370153729	Uncertain significance	Aborted sudden cardiac death;Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy	RCV000999605;RCV000999605;RCV000689746	Human Phenotype Ontology;MedGen;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0007194;ORPHA217569;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, multiple submitters, no conflicts	tagSNP	rs370153729
Clinvar_Rec_8044	rs878854902	Uncertain significance	Primary dilated cardiomyopathy	RCV000232665	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs878854902
Clinvar_Rec_8045	rs886046924	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000332268	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886046924
Clinvar_Rec_8046	rs149300287	Uncertain significance	Thrombocytopenia	RCV000315772	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	tagSNP	rs149300287
Clinvar_Rec_8047	rs11015480	Benign/Likely benign	Thrombocytopenia;not specified	RCV000361095;RCV000245765	Human Phenotype Ontology;MedGen	HP;C0040034;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs41282228
Clinvar_Rec_8048	rs142143518	Conflicting interpretations of pathogenicity	Thrombocytopenia;not provided	RCV000341474;RCV000884457	Human Phenotype Ontology;MedGen	HP;C0040034;MedGen	criteria provided, conflicting interpretations	LD derived	rs114367485
Clinvar_Rec_8049	rs142143518	Uncertain significance	Thrombocytopenia	RCV000350832	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs566954562
Clinvar_Rec_8050	rs142143518	Uncertain significance	Thrombocytopenia	RCV000296987	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs554557381
Clinvar_Rec_8051	rs142143518	Uncertain significance	Thrombocytopenia	RCV000354245	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs574340842
Clinvar_Rec_8052	rs142143518	Uncertain significance	Thrombocytopenia	RCV000349549	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs139695329
Clinvar_Rec_8053	rs142143518	Uncertain significance	Thrombocytopenia	RCV000357279	Human Phenotype Ontology;MedGen	HP;C0040034	criteria provided, single submitter	LD derived	rs115175971
Clinvar_Rec_8054	rs1564578483	Uncertain significance	Cone-rod dystrophy	RCV000678519	MedGen;Orphanet	C4085590;ORPHA1872	no assertion criteria provided	tagSNP	rs1564578483
Clinvar_Rec_8055	rs886046977	Uncertain significance	Warburg micro syndrome	RCV000385543	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs886046977
Clinvar_Rec_8056	rs886046978	Uncertain significance	Warburg micro syndrome	RCV000346198	MedGen;Orphanet	CN158709;ORPHA2510	criteria provided, single submitter	tagSNP	rs886046978
Clinvar_Rec_8057	rs536396179	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000561271;RCV000205614	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs34288963
Clinvar_Rec_8058	rs76449634	risk factor	Hirschsprung disease 1	RCV000014950	MedGen;OMIM	C3888239;142623	no assertion criteria provided	tagSNP	rs76449634
Clinvar_Rec_8059	rs1484566321	Uncertain significance	Multiple endocrine neoplasia, type 2	RCV000654596	MedGen;Orphanet;SNOMED CT	C4048306;ORPHA653;61808009	criteria provided, single submitter	tagSNP	rs1484566321
Clinvar_Rec_8060	rs377767388	Uncertain significance	Hereditary cancer-predisposing syndrome;Medullary thyroid carcinoma;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;not provided;not specified	RCV000567555;RCV000148776;RCV000231209;RCV000709104;RCV000679758;RCV000021762	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C536914;C0238462;ORPHA1332;255032005;MedGen;ORPHA653;61808009;MeSH;C0025268;171400;ORPHA247698;61808009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377767388
Clinvar_Rec_8061	rs1453202992	Likely benign	Multiple endocrine neoplasia, type 2	RCV000654604	MedGen;Orphanet;SNOMED CT	C4048306;ORPHA653;61808009	criteria provided, single submitter	tagSNP	rs1453202992
Clinvar_Rec_8062	rs142338976	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000564599;RCV000591528	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142338976
Clinvar_Rec_8063	rs139813765	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;not specified	RCV000573705;RCV000202914;RCV000462996;RCV000411486;RCV000410377;RCV000121979	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA276161;46724008;MedGen;ORPHA653;61808009;MeSH;C0025268;171400;ORPHA247698;61808009;MeSH;C0025269;162300;ORPHA247709;6153000;61530001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs181856591
Clinvar_Rec_8064	rs906695652	Uncertain significance	Multiple endocrine neoplasia, type 2	RCV000654591	MedGen;Orphanet;SNOMED CT	C4048306;ORPHA653;61808009	criteria provided, single submitter	tagSNP	rs906695652
Clinvar_Rec_8065	rs761815073	Likely benign	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 2	RCV001012620;RCV000654631	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA653;61808009	criteria provided, multiple submitters, no conflicts	tagSNP	rs761815073
Clinvar_Rec_8066	rs141771814	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000568831;RCV000654609;RCV000247325	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141771814
Clinvar_Rec_8067	rs527726480	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a	RCV000562548;RCV000123307;RCV000709119	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA653;61808009;MeSH;C0025268;171400;ORPHA247698;61808009	criteria provided, multiple submitters, no conflicts	tagSNP	rs527726480
Clinvar_Rec_8068	rs587780809	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 2	RCV001014747;RCV000123308	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA653;61808009	criteria provided, conflicting interpretations	tagSNP	rs587780809
Clinvar_Rec_8069	rs377767428	Uncertain significance	Multiple endocrine neoplasia, type 2;not specified	RCV000664393;RCV000021872	MedGen;Orphanet;SNOMED CT	C4048306;ORPHA653;61808009;MedGen	criteria provided, single submitter	tagSNP	rs377767428
Clinvar_Rec_8070	rs376487144	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001017866;RCV000123316	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376487144
Clinvar_Rec_8071	rs766330880	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a	RCV001018329;RCV000654577;RCV000709125	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA653;61808009;MeSH;C0025268;171400;ORPHA247698;61808009	criteria provided, multiple submitters, no conflicts	tagSNP	rs766330880
Clinvar_Rec_8072	rs201945709	Likely benign	Hirschsprung Disease, Dominant;Multiple endocrine neoplasia;Pheochromocytoma;Renal hypodysplasia/aplasia 1	RCV000295662;RCV000344726;RCV000397284;RCV000350514	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;OMIM	CN239304;MedGen;ORPHA276161;46724008;Human Phenotype Ontology;C0031511;171300;MedGen;191830	criteria provided, single submitter	tagSNP	rs201945709
Clinvar_Rec_8073	rs35129734	Likely benign	Telangiectasia, hereditary hemorrhagic, type 5;not provided	RCV000074346;RCV000861312	MedGen;OMIM	C3809710;615506;MedGen	criteria provided, single submitter	tagSNP	rs35129734
Clinvar_Rec_8074	rs183587343	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000394902	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs183587343
Clinvar_Rec_8075	rs576781515	Conflicting interpretations of pathogenicity	Retinitis pigmentosa 66;not provided	RCV000206994;RCV000175739	MedGen;OMIM	C3715216;615233;MedGen	criteria provided, conflicting interpretations	LD derived	rs148591757
Clinvar_Rec_8076	rs1564725764	Pathogenic	Cockayne syndrome B	RCV000735200	MedGen;OMIM;Orphanet	C0751038;133540;ORPHA90322	no assertion criteria provided	tagSNP	rs1564725764
Clinvar_Rec_8077	rs772545860	Uncertain significance	Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME	RCV000674239;RCV000674239;RCV000674239	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0220722;214150;41283003;MedGen;133540;ORPHA90322;MedGen;278800;ORPHA1569;414673004	criteria provided, single submitter	tagSNP	rs772545860
Clinvar_Rec_8078	rs577021605	Likely pathogenic	Cerebrooculofacioskeletal syndrome 1;Cockayne syndrome B;DE SANCTIS-CACCHIONE SYNDROME	RCV000666618;RCV000666618;RCV000666618	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0220722;214150;41283003;MedGen;133540;ORPHA90322;MedGen;278800;ORPHA1569;414673004	criteria provided, single submitter	tagSNP	rs577021605
Clinvar_Rec_8079	rs1564475567	Uncertain significance	Familial infantile myasthenia	RCV000706987	MedGen;OMIM;SNOMED CT	C0393929;254210;230670003	criteria provided, single submitter	tagSNP	rs1564475567
Clinvar_Rec_8080	rs202017913	Likely benign	Thoracic aortic aneurysm and aortic dissection	RCV000157424	MedGen;Orphanet	C4707243;ORPHA91387	no assertion criteria provided	tagSNP	rs202017913
Clinvar_Rec_8081	rs751916382	Uncertain significance	Aortic aneurysm, familial thoracic 8	RCV000535981	MedGen;OMIM	C3809513;615436	criteria provided, single submitter	tagSNP	rs751916382
Clinvar_Rec_8082	rs140871298	Uncertain significance	Aortic aneurysm, familial thoracic 8;Cardiovascular phenotype;not provided	RCV000550867;RCV000620857;RCV000521086	MedGen;OMIM	C3809513;615436;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140871298
Clinvar_Rec_8083	rs1157867791	Uncertain significance	Aortic aneurysm, familial thoracic 8	RCV000699362	MedGen;OMIM	C3809513;615436	criteria provided, single submitter	tagSNP	rs1157867791
Clinvar_Rec_8084	rs761759814	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000620356;RCV000524770	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs761759814
Clinvar_Rec_8085	rs775427696	Uncertain significance	Aortic aneurysm, familial thoracic 8	RCV000655073	MedGen;OMIM	C3809513;615436	criteria provided, single submitter	tagSNP	rs775427696
Clinvar_Rec_8086	rs201720423	Uncertain significance	Cardiovascular phenotype	RCV000618234	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs201720423
Clinvar_Rec_8087	rs74754826	Conflicting interpretations of pathogenicity	Mannose-binding protein deficiency;not provided	RCV000778285;RCV000883897	MedGen;OMIM	C3280586;614372;MedGen	criteria provided, conflicting interpretations	tagSNP	rs74754826
Clinvar_Rec_8088	rs483352837	Conflicting interpretations of pathogenicity	Deafness, autosomal recessive 23;not specified	RCV000114410;RCV000220485	MedGen;OMIM	C1836027;609533;MedGen	criteria provided, conflicting interpretations	tagSNP	rs483352837
Clinvar_Rec_8089	rs1554853456	Likely benign	Charcot-Marie-Tooth disease, type I	RCV000638193	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	tagSNP	rs1554853456
Clinvar_Rec_8090	rs535186925	Uncertain significance	Charcot-Marie-Tooth disease, type I	RCV000529248	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	tagSNP	rs535186925
Clinvar_Rec_8091	rs886047096	Uncertain significance	Charcot-Marie-Tooth disease, type I	RCV000282163	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	tagSNP	rs886047096
Clinvar_Rec_8092	rs587777135	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 13	RCV000487676;RCV000087057	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	C0349788;ORPHA247;253528005;281170005;MedGen;615616	no assertion criteria provided	tagSNP	rs587777135
Clinvar_Rec_8093	rs760532002	Uncertain significance	Arrhythmogenic right ventricular dysplasia, familial, 13	RCV000694573	MedGen;OMIM	C3810138;615616	criteria provided, single submitter	tagSNP	rs760532002
Clinvar_Rec_8094	rs41274090	Benign	Arrhythmogenic right ventricular dysplasia, familial, 13	RCV000228871	MedGen;OMIM	C3810138;615616	criteria provided, single submitter	tagSNP	rs41274090
Clinvar_Rec_8095	rs2673793	Benign	Cardiovascular phenotype;not provided;not specified	RCV000247879;RCV000024489;RCV000181000	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2673793
Clinvar_Rec_8096	rs145440469	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy 1KK;not provided;not specified	RCV000618785;RCV000460814;RCV000858507;RCV000222107	MedGen;OMIM	CN230736;MedGen;615248;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145440469
Clinvar_Rec_8097	rs147500426	Likely benign	Dilated cardiomyopathy 1KK;not provided	RCV000625360;RCV000874881	MedGen;OMIM	C3714995;615248;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147500426
Clinvar_Rec_8098	rs148407539	Likely benign	Cardiovascular phenotype;not provided	RCV000618653;RCV000655054	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148407539
Clinvar_Rec_8099	rs786205348	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000208046	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs786205348
Clinvar_Rec_8100	rs864622711	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1KK;not provided	RCV000252853;RCV000205431;RCV000786380	MedGen;OMIM	CN230736;MedGen;615248;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622711
Clinvar_Rec_8101	rs762310456	Uncertain significance	Cardiovascular phenotype;not specified	RCV000252977;RCV000223844	MedGen	CN230736;MedGen	criteria provided, single submitter	tagSNP	rs762310456
Clinvar_Rec_8102	rs1564704607	Uncertain significance	Dilated cardiomyopathy 1KK	RCV000703631	MedGen;OMIM	C3714995;615248	criteria provided, single submitter	tagSNP	rs1564704607
Clinvar_Rec_8103	rs200034765	Likely pathogenic	Short stature	RCV000736154	Human Phenotype Ontology;MedGen	HP;C0349588	no assertion criteria provided	tagSNP	rs200034765
Clinvar_Rec_8104	rs1564667208	Uncertain significance	Visceral heterotaxy 5, autosomal	RCV000687327	MedGen;OMIM	C3495537;270100	criteria provided, single submitter	tagSNP	rs1564667208
Clinvar_Rec_8105	rs121913015	Pathogenic	Hyperphenylalaninemia, BH4-deficient, D	RCV000018290	MedGen;OMIM;Orphanet	C1849700;264070;ORPHA1578	no assertion criteria provided	tagSNP	rs121913015
Clinvar_Rec_8106	rs104894172	Likely pathogenic	Hyperphenylalaninemia, BH4-deficient, D	RCV000018286	MedGen;OMIM;Orphanet	C1849700;264070;ORPHA1578	criteria provided, single submitter	tagSNP	rs104894172
Clinvar_Rec_8107	rs796051861	Pathogenic	USHER SYNDROME, TYPE ID/F, DIGENIC;not provided	RCV000005208;RCV000254862	MedGen	C3276419;MedGen	criteria provided, single submitter	tagSNP	rs796051861
Clinvar_Rec_8108	rs397517305	Likely pathogenic	Rare genetic deafness	RCV000150273	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs397517305
Clinvar_Rec_8109	rs397517327	Pathogenic	Rare genetic deafness;not provided	RCV000039163;RCV000482326	MedGen;Orphanet	CN826980;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517327
Clinvar_Rec_8110	rs886047139	Uncertain significance	CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000314121;RCV000364252;RCV000405794	MedGen;OMIM;SNOMED CT	CN239227;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs886047139
Clinvar_Rec_8111	rs142131750	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000298083;RCV000403406;RCV000839604;RCV000039221	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142131750
Clinvar_Rec_8112	rs121908348	Pathogenic	Deafness, autosomal recessive 12	RCV000005201	MedGen;OMIM	C1832394;601386	no assertion criteria provided	tagSNP	rs121908348
Clinvar_Rec_8113	rs55964031	Conflicting interpretations of pathogenicity	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not specified	RCV000396275;RCV000337881;RCV000402429;RCV000301614;RCV000604131	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, conflicting interpretations	LD derived	rs149704197
Clinvar_Rec_8114	rs758727384	Uncertain significance	CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000332923;RCV000275592;RCV000389906	MedGen;OMIM;SNOMED CT	CN239227;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs758727384
Clinvar_Rec_8115	rs727504761	Pathogenic	Rare genetic deafness	RCV000156071	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs727504761
Clinvar_Rec_8116	rs876657758	Uncertain significance	Retinal dystrophy;not specified	RCV001074479;RCV000220041	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876657758
Clinvar_Rec_8117	rs376497158	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000380915;RCV000288750;RCV000879426;RCV000039301	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376497158
Clinvar_Rec_8118	rs562268606	Conflicting interpretations of pathogenicity	Atypical Gaucher Disease;CDH23-Related Disorders;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000380533;RCV000277041;RCV000283671;RCV000322706;RCV000340975;RCV000362197;RCV000307445	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen;500004;57838006	criteria provided, conflicting interpretations	tagSNP	rs562268606
Clinvar_Rec_8119	rs1054635	Benign/Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000320461;RCV000377475;RCV000261813;RCV000267207;RCV000274238;RCV000320011	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs1054635
Clinvar_Rec_8120	rs370977178	Benign/Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not provided	RCV000357299;RCV000322338;RCV000358497;RCV000262523;RCV000967680	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370977178
Clinvar_Rec_8121	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000405775;RCV000310709;RCV000346802;RCV000397805	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	tagSNP	rs79559408
Clinvar_Rec_8122	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000312993;RCV000352703;RCV000399744;RCV000349168	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs77359818
Clinvar_Rec_8123	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000330718;RCV000320125;RCV000294380;RCV000374735	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs116289781
Clinvar_Rec_8124	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000268788;RCV000328493;RCV000381955;RCV000332005	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs150678709
Clinvar_Rec_8125	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000337280;RCV000370895;RCV000311615;RCV000395801	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114563668
Clinvar_Rec_8126	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000296566;RCV000350467;RCV000390597;RCV000293174	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs116391584
Clinvar_Rec_8127	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000344754;RCV000287484;RCV000291076;RCV000405434	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs115489836
Clinvar_Rec_8128	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000339376;RCV000394342;RCV000304251;RCV000361262	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114457501
Clinvar_Rec_8129	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000403597;RCV000348363;RCV000335472;RCV000300466	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs76750860
Clinvar_Rec_8130	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000403865;RCV000334855;RCV000286195;RCV000341071	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs77908871
Clinvar_Rec_8131	rs79559408	Likely benign	Larsen syndrome;Skeletal dysplasia;Spondyloepiphyseal dysplasia congenita;Spondyloepiphyseal dysplasia with congenital joint dislocations	RCV000313744;RCV000349883;RCV000395543;RCV000390824	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet	C0175778;ORPHA503;63387002;Human Phenotype Ontology;C0410528;105986008;Human Phenotype Ontology;C2745959;183900;ORPHA94068;MedGen;143095;ORPHA263463	criteria provided, single submitter	LD derived	rs114800040
Clinvar_Rec_8132	rs565576288	Likely benign	Quebec platelet disorder	RCV000356504	MedGen;OMIM;Orphanet	C1866423;601709;ORPHA220436	criteria provided, single submitter	tagSNP	rs565576288
Clinvar_Rec_8133	rs146395020	Likely benign	KAT6B-Related Spectrum Disorders	RCV000312073	MedGen	CN239406	criteria provided, single submitter	tagSNP	rs146395020
Clinvar_Rec_8134	rs199470478	Pathogenic	Genitopatellar syndrome;not provided	RCV000023486;RCV000128653	MedGen;OMIM;Orphanet	C1853566;606170;ORPHA85201;MedGen	no assertion criteria provided	tagSNP	rs199470478
Clinvar_Rec_8135	rs113146077	Likely benign	KAT6B-Related Spectrum Disorders	RCV000398370	MedGen	CN239406	criteria provided, single submitter	tagSNP	rs113146077
Clinvar_Rec_8136	rs200045097	Uncertain significance	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	RCV000295052	MedGen;OMIM;Orphanet	C1836173;609446;ORPHA79137	criteria provided, single submitter	tagSNP	rs200045097
Clinvar_Rec_8137	rs7089707	Likely benign	Pol III-related leukodystrophy	RCV000272496	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	LD derived	rs11002351
Clinvar_Rec_8138	rs756926484	Uncertain significance	Pol III-related leukodystrophy	RCV000283050	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs756926484
Clinvar_Rec_8139	rs45570840	Benign	Pol III-related leukodystrophy	RCV000401499	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs45570840
Clinvar_Rec_8140	rs267608682	Pathogenic	Hypomyelinating leukodystrophy 7	RCV000024145	MedGen;OMIM;Orphanet	C2676243;607694;ORPHA88637	no assertion criteria provided	tagSNP	rs267608682
Clinvar_Rec_8141	rs774007232	Pathogenic	Neonatal pseudo-hydrocephalic progeroid syndrome;not provided	RCV000755668;RCV000760689	MedGen;OMIM;Orphanet;SNOMED CT	C0406586;264090;ORPHA3455;238874008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774007232
Clinvar_Rec_8142	rs2271786	Benign	Pulmonary fibrosis, idiopathic, susceptibility to;not specified	RCV000014093;RCV000155577	MedGen	C4016689;MedGen	criteria provided, single submitter	LD derived	rs4253527
Clinvar_Rec_8143	rs761462996	Uncertain significance	Hepatic methionine adenosyltransferase deficiency	RCV000526085	MedGen;OMIM;Orphanet;SNOMED CT	C0268621;250850;ORPHA168598;57835009	criteria provided, single submitter	tagSNP	rs761462996
Clinvar_Rec_8144	rs572003673	Uncertain significance	Hepatic methionine adenosyltransferase deficiency	RCV000655940	MedGen;OMIM;Orphanet;SNOMED CT	C0268621;250850;ORPHA168598;57835009	criteria provided, single submitter	LD derived	rs199600641
Clinvar_Rec_8145	rs749657135	Uncertain significance	Cone-Rod Dystrophy, Recessive	RCV000322834	MedGen	CN239309	criteria provided, single submitter	tagSNP	rs749657135
Clinvar_Rec_8146	rs149954991	Conflicting interpretations of pathogenicity	Cone-Rod Dystrophy, Recessive;not provided	RCV000390412;RCV000880854	MedGen	CN239309;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149954991
Clinvar_Rec_8147	rs1042454	Benign	Retinitis Pigmentosa, Recessive;not specified	RCV000270122;RCV000178138	MedGen	CN239466;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1042454
Clinvar_Rec_8148	rs149516779	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000367669	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs149516779
Clinvar_Rec_8149	rs764175932	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000287296	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs764175932
Clinvar_Rec_8150	rs563714303	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000617313;RCV000938606	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs563714303
Clinvar_Rec_8151	rs201968826	Uncertain significance	Myofibrillar myopathy, ZASP-related	RCV000639876	MedGen;OMIM;Orphanet	C4721886;609452;ORPHA98912	criteria provided, single submitter	tagSNP	rs201968826
Clinvar_Rec_8152	rs45581435	Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000770297;RCV000619334;RCV000463163;RCV000038740	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45581435
Clinvar_Rec_8153	rs372583830	Uncertain significance	Myofibrillar myopathy, ZASP-related;not provided	RCV000473699;RCV000440929	MedGen;OMIM;Orphanet	C4721886;609452;ORPHA98912;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372583830
Clinvar_Rec_8154	rs372331627	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Myofibrillar myopathy, ZASP-related;not provided;not specified	RCV000852622;RCV000988404;RCV000171998;RCV000038741	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;609452;ORPHA98912;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372331627
Clinvar_Rec_8155	rs1064793333	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000580728;RCV000478543	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793333
Clinvar_Rec_8156	rs1064793333	Uncertain significance	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	RCV000567266;RCV000694497	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064793333
Clinvar_Rec_8157	rs186843872	Likely benign	Juvenile Polyposis	RCV000353717	MedGen	CN239474	criteria provided, single submitter	tagSNP	rs186843872
Clinvar_Rec_8158	rs565608847	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;not provided	RCV000213771;RCV000199134;RCV000589484	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen	criteria provided, conflicting interpretations	LD derived	rs576247658
Clinvar_Rec_8159	rs606231242	Pathogenic	Spondyloepimetaphyseal dysplasia, pakistani type	RCV000032843	MedGen;OMIM;Orphanet	C2748515;612847;ORPHA93282	no assertion criteria provided	tagSNP	rs606231242
Clinvar_Rec_8160	rs786204919	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV001017273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786204919
Clinvar_Rec_8161	rs786203072	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000169828;RCV000588635	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203072
Clinvar_Rec_8162	rs1554825190	Uncertain significance	PTEN hamartoma tumor syndrome	RCV000645059	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1554825190
Clinvar_Rec_8163	rs886047452	Uncertain significance	Moyamoya disease;Multisystemic smooth muscle dysfunction syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000302474;RCV000262639;RCV000357370	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C0026654;ORPHA2573;69116000;MedGen;613834;ORPHA404463;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886047452
Clinvar_Rec_8164	rs869025352	Likely pathogenic	Cardiovascular phenotype	RCV000619545	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs869025352
Clinvar_Rec_8165	rs869025352	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000208083	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs869025352
Clinvar_Rec_8166	rs606231361	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	RCV000017961	MedGen	C1866119	no assertion criteria provided	tagSNP	rs606231361
Clinvar_Rec_8167	rs121913086	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	RCV000017980	MedGen	C1866119	no assertion criteria provided	tagSNP	rs121913086
Clinvar_Rec_8168	rs28929498	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	RCV000017968	MedGen	C1866119	no assertion criteria provided	tagSNP	rs28929498
Clinvar_Rec_8169	rs121913081	Pathogenic	Autoimmune lymphoproliferative syndrome, type 1a	RCV000017970	MedGen	C1866119	no assertion criteria provided	tagSNP	rs121913081
Clinvar_Rec_8170	rs121913077	Pathogenic	Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome, type 1a	RCV001071386;RCV000017965	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261;MedGen	criteria provided, single submitter	tagSNP	rs121913077
Clinvar_Rec_8171	rs188706671	Uncertain significance	ANKRD1-related dilated cardiomyopathy;Dilated Cardiomyopathy, Dominant	RCV000559555;RCV000280912	MedGen	CN119551;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs188706671
Clinvar_Rec_8172	rs540915530	Uncertain significance	Achromatopsia;Cone-Rod Dystrophy, Recessive	RCV000328907;RCV000364970	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0152200;ORPHA49382;56852002;MedGen	criteria provided, single submitter	tagSNP	rs540915530
Clinvar_Rec_8173	rs201793869	Benign/Likely benign	Nephrotic syndrome;not provided	RCV000281063;RCV000712690	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0027726;52254009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201793869
Clinvar_Rec_8174	rs61751499	Benign/Likely benign	Nephrotic syndrome;not provided;not specified	RCV000318155;RCV000959883;RCV000244796	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0027726;52254009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61751499
Clinvar_Rec_8175	rs747614650	Uncertain significance	Nephrotic syndrome	RCV000312625	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0027726;52254009	criteria provided, single submitter	tagSNP	rs747614650
Clinvar_Rec_8176	rs184484950	Uncertain significance	Nephrotic syndrome	RCV000334988	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0027726;52254009	criteria provided, single submitter	tagSNP	rs184484950
Clinvar_Rec_8177	rs1799853	drug response	Flurbiprofen response;Lesinurad response;Piroxicam response;Warfarin response;Warfarin response;not provided;not specified;warfarin response - Dosage;warfarin response - Efficacy, Toxicity/ADR	RCV000787929;RCV000788093;RCV000788099;RCV000008920;RCV000154312;RCV000723560;RCV000309101;RCV000211223;RCV000660780	MedGen;OMIM;OMIM	CN258139;MedGen;122700;MedGen;122700;MedGen	reviewed by expert panel	tagSNP	rs1799853
Clinvar_Rec_8178	rs1799853	no interpretation for the single variant	Warfarin response;Warfarin response	RCV000150377;RCV000150378	MedGen;OMIM;OMIM	C0750384;122700;MedGen;122700	no interpretation for the single variant	tagSNP	rs1799853
Clinvar_Rec_8179	rs1799853	drug response	CYP2C8 HAPLOTYPE POLYMORPHISM;rosiglitazone response - Metabolism/PK	RCV000656544;RCV000660764			reviewed by expert panel	LD derived	rs10509681
Clinvar_Rec_8180	rs1799853	no interpretation for the single variant	CYP2C8 HAPLOTYPE POLYMORPHISM	RCV000656544	-	-	no interpretation for the single variant	LD derived	rs11572080
Clinvar_Rec_8181	rs766264810	Pathogenic	Hereditary spastic paraplegia 9A	RCV000200958	MedGen;OMIM;Orphanet	C1832669;601162;ORPHA447753	no assertion criteria provided	tagSNP	rs766264810
Clinvar_Rec_8182	rs1804934	Benign/Likely benign	Cutis laxa, autosomal dominant 3;Cutis laxa, recessive;Cutis laxa-corneal clouding-oligophrenia syndrome;Hereditary spastic paraplegia 9A;not specified	RCV000529418;RCV000366152;RCV000529418;RCV000529418;RCV000428767	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	C4225268;616603;MedGen;219150;ORPHA2962;238826008;59252009;MedGen;601162;ORPHA447753;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1804934
Clinvar_Rec_8183	rs757876226	Uncertain significance	Cutis laxa, autosomal dominant 3;Cutis laxa-corneal clouding-oligophrenia syndrome;Hereditary spastic paraplegia 9A	RCV000703000;RCV000703000;RCV000703000	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	C4225268;616603;MedGen;219150;ORPHA2962;238826008;59252009;MedGen;601162;ORPHA447753	criteria provided, single submitter	tagSNP	rs757876226
Clinvar_Rec_8184	rs550508587	Pathogenic/Likely pathogenic	Primary hyperoxaluria, type III;not provided	RCV000000047;RCV000798240	MedGen;OMIM;Orphanet	C3150878;613616;ORPHA93600;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138207257
Clinvar_Rec_8185	rs796052091	Pathogenic	Primary hyperoxaluria, type III	RCV000186494	MedGen;OMIM;Orphanet	C3150878;613616;ORPHA93600	no assertion criteria provided	tagSNP	rs796052091
Clinvar_Rec_8186	rs2297448	Benign	Mitochondrial complex IV deficiency	RCV000289074	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs2300983
Clinvar_Rec_8187	rs2297448	Benign	Mitochondrial complex IV deficiency;not provided;not specified	RCV000259999;RCV000676871;RCV000116814	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2231687
Clinvar_Rec_8188	rs116235501	Uncertain significance	Mitochondrial complex IV deficiency	RCV000397123	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs11190252
Clinvar_Rec_8189	rs116235501	Uncertain significance	Mitochondrial complex IV deficiency	RCV000382425	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs145731044
Clinvar_Rec_8190	rs77534854	Uncertain significance	Mitochondrial complex IV deficiency	RCV000397123	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs11190252
Clinvar_Rec_8191	rs77534854	Uncertain significance	Mitochondrial complex IV deficiency	RCV000382425	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	criteria provided, single submitter	LD derived	rs145731044
Clinvar_Rec_8192	rs374311166	Uncertain significance	Dubin-Johnson syndrome	RCV000275779	MedGen;OMIM;Orphanet;SNOMED CT	C0022350;237500;ORPHA234;44553005	criteria provided, single submitter	tagSNP	rs374311166
Clinvar_Rec_8193	rs116046810	Conflicting interpretations of pathogenicity	Ataxia Neuropathy Spectrum Disorders;Autosomal recessive cerebellar ataxia;Mitochondrial DNA depletion syndrome;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;not provided;not specified	RCV000284653;RCV000402465;RCV000300073;RCV000339690;RCV000909034;RCV000199218	MedGen;Orphanet;Orphanet	CN239223;MedGen;ORPHA1172;MedGen;ORPHA35698;MedGen	criteria provided, conflicting interpretations	tagSNP	rs116046810
Clinvar_Rec_8194	rs35166585	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Medulloblastoma;not provided;not specified	RCV000569216;RCV000301743;RCV000233220;RCV000781898	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen	criteria provided, conflicting interpretations	tagSNP	rs35166585
Clinvar_Rec_8195	rs35166585	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Medulloblastoma;not provided;not specified	RCV000563973;RCV000307678;RCV000225937;RCV000781897	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen	criteria provided, conflicting interpretations	LD derived	rs189234140
Clinvar_Rec_8196	rs35166585	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Medulloblastoma;not provided;not specified	RCV000574379;RCV000332387;RCV000232168;RCV000781896	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen	criteria provided, conflicting interpretations	LD derived	rs141950577
Clinvar_Rec_8197	rs35166585	Uncertain significance	Medulloblastoma	RCV000341841	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	criteria provided, single submitter	LD derived	rs181690906
Clinvar_Rec_8198	rs199673680	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Medulloblastoma	RCV000548813;RCV001025573;RCV000548813	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616	criteria provided, multiple submitters, no conflicts	tagSNP	rs199673680
Clinvar_Rec_8199	rs1363458155	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Medulloblastoma	RCV000628513;RCV001017966;RCV000628513	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616	criteria provided, multiple submitters, no conflicts	tagSNP	rs1363458155
Clinvar_Rec_8200	rs200206997	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001018000;RCV000557352	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200206997
Clinvar_Rec_8201	rs587778698	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Medulloblastoma;not specified	RCV000821028;RCV001018257;RCV000821028;RCV000122095	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778698
Clinvar_Rec_8202	rs2298277	Likely benign	Medulloblastoma	RCV000351120	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	criteria provided, single submitter	tagSNP	rs2298277
Clinvar_Rec_8203	rs886046654	Uncertain significance	Medulloblastoma	RCV000382352	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	criteria provided, single submitter	tagSNP	rs886046654
Clinvar_Rec_8204	rs577028604	Conflicting interpretations of pathogenicity	Gorlin syndrome;Medulloblastoma;not specified	RCV001041817;RCV001041817;RCV000604414	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0004779;109400;ORPHA377;69408002;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen	criteria provided, conflicting interpretations	LD derived	rs535323089
Clinvar_Rec_8205	rs104894149	Pathogenic	Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency	RCV000001867	MedGen	C3277851	no assertion criteria provided	tagSNP	rs104894149
Clinvar_Rec_8206	rs7074395	Benign	Renal Hypomagnesemia, Dominant	RCV000402798	MedGen	CN239436	criteria provided, single submitter	LD derived	rs1046411
Clinvar_Rec_8207	rs551362990	Uncertain significance	Neutral lipid storage myopathy	RCV000536455	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908	criteria provided, single submitter	LD derived	rs557790601
Clinvar_Rec_8208	rs182229874	Uncertain significance	Immunodeficiency 39	RCV000695643	MedGen;OMIM	C4225358;616345	criteria provided, single submitter	LD derived	rs201036875
Clinvar_Rec_8209	rs187568569	Uncertain significance	Immunodeficiency 39	RCV000695643	MedGen;OMIM	C4225358;616345	criteria provided, single submitter	LD derived	rs201036875
Clinvar_Rec_8210	rs183141328	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	RCV000393735	MedGen	CN239237	criteria provided, single submitter	LD derived	rs191455128
Clinvar_Rec_8211	rs776888712	Uncertain significance	Costello syndrome	RCV000637303	MedGen;OMIM;Orphanet;SNOMED CT	C0587248;218040;ORPHA3071;309776008	criteria provided, single submitter	tagSNP	rs776888712
Clinvar_Rec_8212	rs587777239	Pathogenic	Costello syndrome	RCV000106320	MedGen;OMIM;Orphanet;SNOMED CT	C0587248;218040;ORPHA3071;309776008	no assertion criteria provided	tagSNP	rs587777239
Clinvar_Rec_8213	rs1554884966	Uncertain significance	Costello syndrome	RCV000546898	MedGen;OMIM;Orphanet;SNOMED CT	C0587248;218040;ORPHA3071;309776008	criteria provided, single submitter	tagSNP	rs1554884966
Clinvar_Rec_8214	rs543573752	Conflicting interpretations of pathogenicity	Neutral lipid storage myopathy;not provided	RCV000286119;RCV000859377	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908;MedGen	criteria provided, conflicting interpretations	LD derived	rs202081894
Clinvar_Rec_8215	rs1057524157	Likely pathogenic	Mental retardation, autosomal dominant 24	RCV000515517	MedGen;OMIM	C4014414;615828	criteria provided, single submitter	tagSNP	rs1057524157
Clinvar_Rec_8216	rs142263629	Conflicting interpretations of pathogenicity	Deficiency of transaldolase;not provided	RCV000311153;RCV000959895	MedGen;OMIM;Orphanet;SNOMED CT	C1291329;606003;ORPHA101028;124252008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142263629
Clinvar_Rec_8217	rs573028192	Uncertain significance	Neutral lipid storage myopathy	RCV000641661	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908	criteria provided, single submitter	LD derived	rs530863669
Clinvar_Rec_8218	rs886048709	Uncertain significance	Neutral lipid storage myopathy	RCV000353802	MedGen;OMIM;Orphanet	C1853136;610717;ORPHA98908	criteria provided, single submitter	tagSNP	rs886048709
Clinvar_Rec_8219	rs200875086	Likely benign	Neuronal ceroid lipofuscinosis	RCV000477425	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs200875086
Clinvar_Rec_8220	rs747274524	Uncertain significance	Neuronal ceroid lipofuscinosis;not provided	RCV001060632;RCV000522018	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747274524
Clinvar_Rec_8221	rs80356672	Pathogenic	Permanent neonatal diabetes mellitus	RCV000020210	MedGen;OMIM;Orphanet	C1833104;606176;ORPHA99885	no assertion criteria provided	tagSNP	rs80356672
Clinvar_Rec_8222	rs3842724	Benign/Likely benign	Maturity onset diabetes mellitus in young;Segawa syndrome, autosomal recessive;Transient Neonatal Diabetes, Dominant/Recessive;not provided	RCV000274394;RCV000307379;RCV000387514;RCV000713848	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM	HP;C0342276;606391;ORPHA552;28453007;MedGen;605407;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3842724
Clinvar_Rec_8223	rs45471299	Conflicting interpretations of pathogenicity	Dystonia;Inborn genetic diseases;Segawa syndrome, autosomal recessive	RCV000457250;RCV000622283;RCV000013119	Human Phenotype Ontology;MedGen;MedGen;OMIM	HP;C0013421;MeSH;C0950123;MedGen;605407	criteria provided, conflicting interpretations	tagSNP	rs45471299
Clinvar_Rec_8224	rs767635052	Uncertain significance	Segawa syndrome, autosomal recessive	RCV000673839	MedGen;OMIM	C1854299;605407	criteria provided, single submitter	tagSNP	rs767635052
Clinvar_Rec_8225	rs1554922725	Uncertain significance	Segawa syndrome, autosomal recessive	RCV000668836	MedGen;OMIM	C1854299;605407	criteria provided, single submitter	tagSNP	rs1554922725
Clinvar_Rec_8226	rs200948792	Benign/Likely benign	Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome;not provided;not specified;short QT syndrome	RCV000352173;RCV000385740;RCV000228840;RCV000295203;RCV000859103;RCV000182071;RCV000293658	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet	C3468561;ORPHA334;MedGen;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen;ORPHA51083	criteria provided, multiple submitters, no conflicts	LD derived	rs1805118
Clinvar_Rec_8227	rs1064795333	Pathogenic/Likely pathogenic	Long QT syndrome;not provided	RCV000631616;RCV000484720	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064795333
Clinvar_Rec_8228	rs199472751	Pathogenic	Cardiovascular phenotype;Congenital long QT syndrome;not provided	RCV000586037;RCV000057822;RCV000182310	MedGen;Orphanet;SNOMED CT	CN230736;MedGen;ORPHA768;442917000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199472751
Clinvar_Rec_8229	rs199472751	not provided	Congenital long QT syndrome	RCV000057823	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472751
Clinvar_Rec_8230	rs199472750	not provided	Congenital long QT syndrome	RCV000057824	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199472750
Clinvar_Rec_8231	rs763197403	Likely benign	Arrhythmia;not provided	RCV000774197;RCV000827143	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763197403
Clinvar_Rec_8232	rs794728537	Pathogenic	Long QT syndrome;Long QT syndrome 1;not provided	RCV000815960;RCV000770826;RCV000182227	MeSH;MedGen;SNOMED CT;OMIM	D008133;C0023976;9651007;MedGen;192500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728537
Clinvar_Rec_8233	rs141960532	Likely benign	Familial atrial fibrillation;Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome;short QT syndrome	RCV000323690;RCV000266189;RCV000328448;RCV000380600;RCV000377131	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet	C3468561;ORPHA334;MedGen;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen;ORPHA51083	criteria provided, single submitter	tagSNP	rs141960532
Clinvar_Rec_8234	rs1312652368	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000688516	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1312652368
Clinvar_Rec_8235	rs750526402	Uncertain significance	Beckwith-Wiedemann syndrome	RCV000628559	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs750526402
Clinvar_Rec_8236	rs1554972161	Uncertain significance	Combined immunodeficiency due to STIM1 deficiency;Myopathy, tubular aggregate, 1;Stormorken syndrome	RCV000557041;RCV000557041;RCV000557041	MedGen;OMIM;Orphanet;OMIM;OMIM;Orphanet	C2748557;612783;ORPHA317430;MedGen;160565;MedGen;185070;ORPHA3204	criteria provided, single submitter	tagSNP	rs1554972161
Clinvar_Rec_8237	rs184542325	other	HEMOGLOBIN A(2) BABINGA	RCV000016189	-	-	no assertion criteria provided	LD derived	rs35849348
Clinvar_Rec_8238	rs35890380	other	HEMOGLOBIN G (SZUHU);HEMOGLOBIN GIFU	RCV000016354;RCV000016355			no assertion criteria provided	tagSNP	rs35890380
Clinvar_Rec_8239	rs112372029	Uncertain significance	Fetal hemoglobin quantitative trait locus 1	RCV000321973	MedGen;OMIM	C1841621;141749	criteria provided, single submitter	tagSNP	rs112372029
Clinvar_Rec_8240	rs144322869	Uncertain significance	Fetal hemoglobin quantitative trait locus 1	RCV000374041	MedGen;OMIM	C1841621;141749	criteria provided, single submitter	tagSNP	rs144322869
Clinvar_Rec_8241	rs33974602	other	HEMOGLOBIN F (WOODSTOCK)	RCV000016181	-	-	no assertion criteria provided	tagSNP	rs33974602
Clinvar_Rec_8242	rs33924825	other	HEMOGLOBIN F (PORDENONE)	RCV000016161	-	-	no assertion criteria provided	tagSNP	rs33924825
Clinvar_Rec_8243	rs34427034	other	HEMOGLOBIN F (TEXAS I)	RCV000016165	-	-	no assertion criteria provided	tagSNP	rs34427034
Clinvar_Rec_8244	rs35103459	Pathogenic	Cyanosis, transient neonatal	RCV000016129	MedGen;OMIM	C3151421;613977	no assertion criteria provided	tagSNP	rs35103459
Clinvar_Rec_8245	rs281864892	other	HEMOGLOBIN F (AUSTELL)	RCV000016126	-	-	no assertion criteria provided	tagSNP	rs281864892
Clinvar_Rec_8246	rs34501593	other	HEMOGLOBIN F (AUCKLAND)	RCV000016098	-	-	no assertion criteria provided	tagSNP	rs34501593
Clinvar_Rec_8247	rs79282481	Likely benign	Sphingomyelin/cholesterol lipidosis	RCV000395997	MedGen;SNOMED CT	C0028064;58459009	criteria provided, single submitter	tagSNP	rs79282481
Clinvar_Rec_8248	rs1554933751	Likely pathogenic	Niemann-Pick disease, type A	RCV000670505	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	criteria provided, single submitter	tagSNP	rs1554933751
Clinvar_Rec_8249	rs886048444	Uncertain significance	Sphingomyelin/cholesterol lipidosis	RCV000290689	MedGen;SNOMED CT	C0028064;58459009	criteria provided, single submitter	tagSNP	rs886048444
Clinvar_Rec_8250	rs1128396	Benign	Ceroid lipofuscinosis neuronal 2;Neuronal Ceroid-Lipofuscinosis, Recessive;Seizures;not provided;not specified	RCV000601152;RCV000395501;RCV000715174;RCV000587812;RCV000118652	MedGen;OMIM;Orphanet;MedGen	C1876161;204500;ORPHA228349;MedGen;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1128396
Clinvar_Rec_8251	rs746085696	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis;not provided	RCV000796045;RCV000189799	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746085696
Clinvar_Rec_8252	rs186255064	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000359276	MedGen	CN239323	criteria provided, single submitter	LD derived	rs188544089
Clinvar_Rec_8253	rs199875933	Conflicting interpretations of pathogenicity	Sphingomyelin/cholesterol lipidosis;not provided	RCV000382375;RCV000735167	MedGen;SNOMED CT	C0028064;58459009;MedGen	criteria provided, conflicting interpretations	LD derived	rs202244080
Clinvar_Rec_8254	rs3751000	Benign	Charcot-Marie-Tooth disease type 4	RCV000299034	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs3751000
Clinvar_Rec_8255	rs765970008	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000700853	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs765970008
Clinvar_Rec_8256	rs140730386	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease type 4;not provided;not specified	RCV000226533;RCV000858056;RCV000421171	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140730386
Clinvar_Rec_8257	rs1321841784	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000705798	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1321841784
Clinvar_Rec_8258	rs767478911	Uncertain significance	Intellectual disability, autosomal dominant 56	RCV000678269	MedGen;OMIM	C4693389;617854	criteria provided, single submitter	tagSNP	rs767478911
Clinvar_Rec_8259	rs547159267	Uncertain significance	Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome	RCV000358772;RCV000263954	MedGen;Orphanet;SNOMED CT;Orphanet	C0265275;ORPHA474;75049004;MedGen;ORPHA1505	criteria provided, single submitter	tagSNP	rs547159267
Clinvar_Rec_8260	rs1223907858	Pathogenic	Jeune thoracic dystrophy	RCV000559551	MedGen;Orphanet;SNOMED CT	C0265275;ORPHA474;75049004	criteria provided, single submitter	tagSNP	rs1223907858
Clinvar_Rec_8261	rs1555066796	Pathogenic	Short-rib polydactyly syndrome type III	RCV000516143	MedGen;Orphanet	C0432197;ORPHA93271	no assertion criteria provided	tagSNP	rs1555066796
Clinvar_Rec_8262	rs372204188	Uncertain significance	Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome	RCV000405572;RCV000313906	MedGen;Orphanet;SNOMED CT;Orphanet	C0265275;ORPHA474;75049004;MedGen;ORPHA1505	criteria provided, single submitter	tagSNP	rs372204188
Clinvar_Rec_8263	rs769976508	Uncertain significance	Premature ovarian insufficiency	RCV000766143	Human Phenotype Ontology;MedGen	HP;C0025322	no assertion criteria provided	tagSNP	rs769976508
Clinvar_Rec_8264	rs36011340	Benign/Likely benign	Deficiency of acetyl-CoA acetyltransferase;not provided	RCV000330121;RCV000872840	MedGen;OMIM;Orphanet;SNOMED CT	C1536500;203750;ORPHA134;124258007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73559264
Clinvar_Rec_8265	rs36011340	Likely benign	Deficiency of acetyl-CoA acetyltransferase	RCV000318533	MedGen;OMIM;Orphanet;SNOMED CT	C1536500;203750;ORPHA134;124258007	criteria provided, single submitter	LD derived	rs73559273
Clinvar_Rec_8266	rs4987880	Conflicting interpretations of pathogenicity	Ataxia-telangiectasia syndrome	RCV000407810	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, conflicting interpretations	tagSNP	rs4987880
Clinvar_Rec_8267	rs4987880	Conflicting interpretations of pathogenicity	Deficiency of acetyl-CoA acetyltransferase;not provided	RCV000319570;RCV000872511	MedGen;OMIM;Orphanet;SNOMED CT	C1536500;203750;ORPHA134;124258007;MedGen	criteria provided, conflicting interpretations	LD derived	rs139657823
Clinvar_Rec_8268	rs777759909	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565668	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs777759909
Clinvar_Rec_8269	rs1060501678	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000458755;RCV000575846	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501678
Clinvar_Rec_8270	rs1555059048	Likely benign	Hereditary cancer-predisposing syndrome	RCV000565932	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555059048
Clinvar_Rec_8271	rs1555059070	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000627856	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555059070
Clinvar_Rec_8272	rs1555059081	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580759	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555059081
Clinvar_Rec_8273	rs587782178	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000463681;RCV000130797;RCV000235623	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782178
Clinvar_Rec_8274	rs1060501596	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000471017;RCV001020818	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501596
Clinvar_Rec_8275	rs773495195	Likely benign	Ataxia-telangiectasia syndrome	RCV000550025	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs773495195
Clinvar_Rec_8276	rs773495195	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000165346;RCV000203984	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773495195
Clinvar_Rec_8277	rs761137313	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000707639;RCV000165412	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs761137313
Clinvar_Rec_8278	rs587781741	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000532542;RCV000129945	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781741
Clinvar_Rec_8279	rs587781741	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000462735;RCV000165713	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781741
Clinvar_Rec_8280	rs587781831	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000627887;RCV000130118;RCV000478446	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781831
Clinvar_Rec_8281	rs745642834	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000580692;RCV000255124	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745642834
Clinvar_Rec_8282	rs766034066	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000457000;RCV000572205	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs766034066
Clinvar_Rec_8283	rs1555059372	Likely benign	Ataxia-telangiectasia syndrome	RCV000628236	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555059372
Clinvar_Rec_8284	rs1555059380	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000575590	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555059380
Clinvar_Rec_8285	rs1565357194	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000696883;RCV001022509	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1565357194
Clinvar_Rec_8286	rs1565357194	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773997	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565357194
Clinvar_Rec_8287	rs1565369739	Conflicting interpretations of pathogenicity	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000685490;RCV001025120	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1565369739
Clinvar_Rec_8288	rs1387925127	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773196	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1387925127
Clinvar_Rec_8289	rs876659912	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000220838	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659912
Clinvar_Rec_8290	rs557012154	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000169336;RCV000222842;RCV000519059	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs557012154
Clinvar_Rec_8291	rs1057519364	Likely pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000416923	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	no assertion criteria provided	tagSNP	rs1057519364
Clinvar_Rec_8292	rs786201469	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563663	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201469
Clinvar_Rec_8293	rs786201469	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000163704;RCV000908546;RCV000612384	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201469
Clinvar_Rec_8294	rs730881283	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000159605;RCV000587703;RCV000211970	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881283
Clinvar_Rec_8295	rs1565390124	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000691874	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565390124
Clinvar_Rec_8296	rs786202977	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000196727;RCV000166072	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202977
Clinvar_Rec_8297	rs1060504260	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567194;RCV000463142	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504260
Clinvar_Rec_8298	rs1555085217	Pathogenic	Ataxia-telangiectasia syndrome	RCV000628029	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555085217
Clinvar_Rec_8299	rs587778070	Uncertain significance	Ataxia-telangiectasia syndrome;not specified	RCV000815027;RCV000120129	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen	criteria provided, single submitter	tagSNP	rs587778070
Clinvar_Rec_8300	rs1565425832	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000707554	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565425832
Clinvar_Rec_8301	rs786203820	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000167293;RCV000469672	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203820
Clinvar_Rec_8302	rs186626274	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000685567	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs186626274
Clinvar_Rec_8303	rs186626274	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000204390;RCV000220730;RCV000587502	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs186626274
Clinvar_Rec_8304	rs370282831	Conflicting interpretations of pathogenicity	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary cancer-predisposing syndrome;Inborn genetic diseases;not provided;not specified	RCV000465718;RCV000515253;RCV000515253;RCV000115172;RCV000190775;RCV000211995;RCV000779787	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen	C0004135;208900;ORPHA100;68504005;MedGen;208900;ORPHA100;68504005;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MeSH;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370282831
Clinvar_Rec_8305	rs761590782	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000704863;RCV000217486	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs761590782
Clinvar_Rec_8306	rs1555086041	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV001054716;RCV000561731	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555086041
Clinvar_Rec_8307	rs1555086059	Likely benign	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000551950;RCV000568433	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555086059
Clinvar_Rec_8308	rs1060501687	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;Ovarian Neoplasms;not provided	RCV000459347;RCV001019287;RCV000785194;RCV000478659	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MeSH;CN236629;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501687
Clinvar_Rec_8309	rs587781787	Conflicting interpretations of pathogenicity	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000700863;RCV000130042;RCV000442870	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587781787
Clinvar_Rec_8310	rs587781787	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000164129;RCV000428304	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781787
Clinvar_Rec_8311	rs730881365	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000234345;RCV000566259;RCV000159718	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881365
Clinvar_Rec_8312	rs587779836	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000115181;RCV000212003	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779836
Clinvar_Rec_8313	rs876660748	Likely benign	Hereditary cancer-predisposing syndrome	RCV000570867	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660748
Clinvar_Rec_8314	rs876660748	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218649	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660748
Clinvar_Rec_8315	rs1357021067	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773379	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1357021067
Clinvar_Rec_8316	rs878853519	Likely benign	Ataxia-telangiectasia syndrome	RCV000233826	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs878853519
Clinvar_Rec_8317	rs587782532	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000628108;RCV000131734	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782532
Clinvar_Rec_8318	rs1060501571	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000465365;RCV000566161	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501571
Clinvar_Rec_8319	rs587779845	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000697278;RCV000583574	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779845
Clinvar_Rec_8320	rs587779845	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000627853;RCV000218694;RCV000115209	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779845
Clinvar_Rec_8321	rs748900588	Uncertain significance	Ataxia-telangiectasia syndrome;Ataxia-telangiectasia syndrome;Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000230500;RCV000763705;RCV000763705;RCV000572138;RCV000482295	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;208900;ORPHA100;68504005;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748900588
Clinvar_Rec_8322	rs773546064	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000232405;RCV000166025	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs773546064
Clinvar_Rec_8323	rs1555106493	Likely pathogenic	Ataxia-telangiectasia syndrome	RCV000674312	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555106493
Clinvar_Rec_8324	rs1555106531	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000531799	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555106531
Clinvar_Rec_8325	rs1565479465	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000707052	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565479465
Clinvar_Rec_8326	rs1555106563	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000699554	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555106563
Clinvar_Rec_8327	rs1565486174	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000777518	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565486174
Clinvar_Rec_8328	rs876659524	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213872	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659524
Clinvar_Rec_8329	rs1555109177	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000582810	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555109177
Clinvar_Rec_8330	rs1565486341	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000774119	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565486341
Clinvar_Rec_8331	rs752478345	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569768;RCV000940872	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752478345
Clinvar_Rec_8332	rs587779854	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000556775;RCV000115228;RCV000212042	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779854
Clinvar_Rec_8333	rs1555114623	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000582638	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555114623
Clinvar_Rec_8334	rs878853529	Pathogenic	Ataxia-telangiectasia syndrome	RCV000228891	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs878853529
Clinvar_Rec_8335	rs730881379	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000772132;RCV000159744	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881379
Clinvar_Rec_8336	rs1555114670	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000628173	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555114670
Clinvar_Rec_8337	rs915524411	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000794929;RCV000564078	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs915524411
Clinvar_Rec_8338	rs1555114696	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000627983	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555114696
Clinvar_Rec_8339	rs1555114702	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000561521	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555114702
Clinvar_Rec_8340	rs1060501712	Pathogenic	Ataxia-telangiectasia syndrome	RCV000467316	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1060501712
Clinvar_Rec_8341	rs1565503206	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000708656	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1565503206
Clinvar_Rec_8342	rs1565503182	Likely pathogenic	Ataxia-telangiectasia syndrome	RCV000779786	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565503182
Clinvar_Rec_8343	rs1565503246	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000703747;RCV000774979	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1565503246
Clinvar_Rec_8344	rs1555114737	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000563760	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555114737
Clinvar_Rec_8345	rs1555114739	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573527	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555114739
Clinvar_Rec_8346	rs587780631	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000706311;RCV001025095	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780631
Clinvar_Rec_8347	rs587780631	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000122870;RCV000165084;RCV000235401	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780631
Clinvar_Rec_8348	rs587780633	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000122872;RCV000574910	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780633
Clinvar_Rec_8349	rs864622326	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000206192;RCV000218379	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622326
Clinvar_Rec_8350	rs1555119092	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000674064	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1555119092
Clinvar_Rec_8351	rs1555119232	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000689678;RCV000561016	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555119232
Clinvar_Rec_8352	rs1555119235	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582914	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555119235
Clinvar_Rec_8353	rs1057520450	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000564273;RCV000422200	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057520450
Clinvar_Rec_8354	rs1565519112	Uncertain significance	Ataxia-telangiectasia syndrome	RCV000685627	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs1565519112
Clinvar_Rec_8355	rs1555119347	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583234	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555119347
Clinvar_Rec_8356	rs1179172483	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000628175;RCV000777410	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1179172483
Clinvar_Rec_8357	rs876659872	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000538433;RCV000214803	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659872
Clinvar_Rec_8358	rs786202318	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000627855;RCV000165065;RCV000484455	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202318
Clinvar_Rec_8359	rs771781881	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001017535;RCV000586326	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771781881
Clinvar_Rec_8360	rs1555135563	Likely benign	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000988736;RCV000571875	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555135563
Clinvar_Rec_8361	rs775293524	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572687	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs775293524
Clinvar_Rec_8362	rs775293524	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV001051232;RCV000579864	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs775293524
Clinvar_Rec_8363	rs1555135596	Pathogenic	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000474586;RCV001017539	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555135596
Clinvar_Rec_8364	rs1293051732	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000708659	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1293051732
Clinvar_Rec_8365	rs999357615	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564436	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs999357615
Clinvar_Rec_8366	rs1565582460	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777007	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1565582460
Clinvar_Rec_8367	rs876659127	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000219861;RCV000980031	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659127
Clinvar_Rec_8368	rs1555151979	Uncertain significance	Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome	RCV000627933;RCV001018827	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555151979
Clinvar_Rec_8369	rs4585	Benign	Ataxia-telangiectasia syndrome	RCV000274160	MedGen;OMIM;Orphanet;SNOMED CT	C0004135;208900;ORPHA100;68504005	criteria provided, single submitter	tagSNP	rs4585
Clinvar_Rec_8370	rs752754496	Uncertain significance	Erythrocyte AMP deaminase deficiency	RCV000295743	MedGen;OMIM	C2752073;612874	criteria provided, single submitter	tagSNP	rs752754496
Clinvar_Rec_8371	rs551737295	Uncertain significance	Erythrocyte AMP deaminase deficiency	RCV000350698	MedGen;OMIM	C2752073;612874	criteria provided, single submitter	tagSNP	rs551737295
Clinvar_Rec_8372	rs11567847	Pathogenic	Sveinsson chorioretinal atrophy	RCV000013465	MedGen;OMIM;Orphanet	C1862382;108985;ORPHA86813	no assertion criteria provided	tagSNP	rs11567847
Clinvar_Rec_8373	rs587783675	Pathogenic	Diabetes mellitus	RCV000146123	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0011849;73211009	criteria provided, single submitter	tagSNP	rs587783675
Clinvar_Rec_8374	rs73419228	Benign/Likely benign	Hyperinsulinism, Dominant/Recessive;Maturity onset diabetes mellitus in young;Permanent neonatal diabetes mellitus;Transient Neonatal Diabetes, Dominant;not provided;not specified	RCV000374176;RCV000259716;RCV000346983;RCV000307362;RCV000872367;RCV000145004	MedGen;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	CN239464;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007;MedGen;606176;ORPHA99885;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73419228
Clinvar_Rec_8375	rs73419228	Likely benign	Hyperinsulinism, Dominant/Recessive;Maturity onset diabetes mellitus in young;Transient Neonatal Diabetes, Dominant	RCV000260466;RCV000296889;RCV000360968	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239464;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007;MedGen	criteria provided, single submitter	LD derived	rs5208
Clinvar_Rec_8376	rs28936371	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1;not provided	RCV000009664;RCV000710390	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28936371
Clinvar_Rec_8377	rs1057516655	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000409758	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs1057516655
Clinvar_Rec_8378	rs1554904088	Uncertain significance	Hyperinsulinemic hypoglycemia, familial, 1	RCV000666558	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs1554904088
Clinvar_Rec_8379	rs193922405	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000502822	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs193922405
Clinvar_Rec_8380	rs193922405	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000029267	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs193922405
Clinvar_Rec_8381	rs1554904102	Pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000501743	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs1554904102
Clinvar_Rec_8382	rs145673861	Conflicting interpretations of pathogenicity	Hyperinsulinemic hypoglycemia, familial, 1;Hyperinsulinism, Dominant/Recessive;Permanent neonatal diabetes mellitus;Transient Neonatal Diabetes, Dominant;not provided	RCV000145001;RCV000351820;RCV000294704;RCV000394786;RCV000907727	MedGen;OMIM;SNOMED CT;OMIM;Orphanet	C2931832;256450;360339005;MedGen;606176;ORPHA99885;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145673861
Clinvar_Rec_8383	rs1554905805	Uncertain significance	Hyperinsulinemic hypoglycemia, familial, 1	RCV000674122	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs1554905805
Clinvar_Rec_8384	rs886041392	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1;not provided	RCV000673057;RCV000393635	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041392
Clinvar_Rec_8385	rs570388861	Pathogenic/Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1;not provided	RCV000169216;RCV000201910	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs570388861
Clinvar_Rec_8386	rs774574576	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000667835	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs774574576
Clinvar_Rec_8387	rs1057517019	Likely pathogenic	Hyperinsulinemic hypoglycemia, familial, 1	RCV000410254	MedGen;OMIM;SNOMED CT	C2931832;256450;360339005	criteria provided, single submitter	tagSNP	rs1057517019
Clinvar_Rec_8388	rs1565017125	Pathogenic	Deafness, autosomal recessive 18	RCV000770884	MedGen;OMIM	C1865870;602092	no assertion criteria provided	tagSNP	rs1565017125
Clinvar_Rec_8389	rs1554960390	Likely pathogenic	Deafness, autosomal recessive 18;Usher syndrome, type 1C	RCV000669236;RCV000669236	MedGen;OMIM;OMIM	C1865870;602092;MedGen;276904	criteria provided, single submitter	tagSNP	rs1554960390
Clinvar_Rec_8390	rs876657624	Pathogenic	Usher syndrome, type 1C	RCV000240666	MedGen;OMIM	C1848604;276904	no assertion criteria provided	tagSNP	rs876657624
Clinvar_Rec_8391	rs886048069	Uncertain significance	Hermansky-Pudlak syndrome	RCV000276293	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs886048069
Clinvar_Rec_8392	rs886048070	Uncertain significance	Hermansky-Pudlak syndrome	RCV000333820	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs886048070
Clinvar_Rec_8393	rs764296457	Pathogenic	Hermansky-Pudlak syndrome 5	RCV000495446	MedGen;OMIM	C3888004;614074	no assertion criteria provided	tagSNP	rs764296457
Clinvar_Rec_8394	rs751851558	Uncertain significance	Glycogen storage disease XI	RCV000779053	MedGen;OMIM;Orphanet	C2752022;612933;ORPHA284426	criteria provided, single submitter	tagSNP	rs751851558
Clinvar_Rec_8395	rs150863373	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000281752	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs150863373
Clinvar_Rec_8396	rs1311317470	Uncertain significance	ALG9 congenital disorder of glycosylation	RCV000647913	MedGen;OMIM;Orphanet;SNOMED CT	C2931006;608776;ORPHA79328;720978005	criteria provided, single submitter	tagSNP	rs1311317470
Clinvar_Rec_8397	rs121918382	Pathogenic	Hyperalphalipoproteinemia 2	RCV000019492	MedGen;OMIM	C3151467;614028	no assertion criteria provided	tagSNP	rs121918382
Clinvar_Rec_8398	rs121912725	Pathogenic	Apolipoprotein A-I deficiency	RCV000019519	MedGen	C0342898	no assertion criteria provided	tagSNP	rs121912725
Clinvar_Rec_8399	rs192749274	Uncertain significance	Inflammatory bowel disease	RCV000305533	MedGen;Orphanet;SNOMED CT	C0021390;ORPHA104012;24526004	criteria provided, single submitter	tagSNP	rs192749274
Clinvar_Rec_8400	rs148808529	Conflicting interpretations of pathogenicity	Inflammatory bowel disease;not provided	RCV000328548;RCV000281135	MedGen;Orphanet;SNOMED CT	C0021390;ORPHA104012;24526004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148808529
Clinvar_Rec_8401	rs570654511	Likely benign	Long QT syndrome;Romano-Ward syndrome	RCV000383232;RCV000284162	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs570654511
Clinvar_Rec_8402	rs117263855	Likely benign	Long QT syndrome;Romano-Ward syndrome	RCV000331465;RCV000388204	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs117263855
Clinvar_Rec_8403	rs117263855	Likely benign	Long QT syndrome;Romano-Ward syndrome	RCV000322751;RCV000379744	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	LD derived	rs66491110
Clinvar_Rec_8404	rs587777559	Pathogenic	Atrial fibrillation, familial, 17	RCV000128816	MedGen	C4013560	no assertion criteria provided	tagSNP	rs587777559
Clinvar_Rec_8405	rs180855313	Uncertain significance	Rasopathy	RCV000551449	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	LD derived	rs202095002
Clinvar_Rec_8406	rs369243698	Uncertain significance	Glucose-6-phosphate transport defect	RCV000666106	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs369243698
Clinvar_Rec_8407	rs782195068	Uncertain significance	Glucose-6-phosphate transport defect	RCV000668509	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs782195068
Clinvar_Rec_8408	rs373050741	Uncertain significance	Glycogen storage disease, type I	RCV000385794	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs373050741
Clinvar_Rec_8409	rs373050741	Uncertain significance	Glucose-6-phosphate transport defect	RCV000673139	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs373050741
Clinvar_Rec_8410	rs373050741	Uncertain significance	Glucose-6-phosphate transport defect	RCV000670495	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs373050741
Clinvar_Rec_8411	rs782603352	Likely benign	Glucose-6-phosphate transport defect	RCV000667841	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs782603352
Clinvar_Rec_8412	rs1265857875	Uncertain significance	Glucose-6-phosphate transport defect	RCV000673702	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1265857875
Clinvar_Rec_8413	rs1283553362	Likely benign	Glucose-6-phosphate transport defect	RCV000667873	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1283553362
Clinvar_Rec_8414	rs1351380633	Likely benign	Glucose-6-phosphate transport defect	RCV000673810	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1351380633
Clinvar_Rec_8415	rs369358436	Conflicting interpretations of pathogenicity	Glucose-6-phosphate transport defect;not provided;not specified	RCV000634551;RCV000859758;RCV000444523	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369358436
Clinvar_Rec_8416	rs1474282972	Likely pathogenic	Glucose-6-phosphate transport defect	RCV000668254	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1474282972
Clinvar_Rec_8417	rs1555191237	Uncertain significance	Glucose-6-phosphate transport defect	RCV000674442	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1555191237
Clinvar_Rec_8418	rs781846380	Uncertain significance	Glucose-6-phosphate transport defect	RCV000670668	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs781846380
Clinvar_Rec_8419	rs1290401578	Uncertain significance	Glucose-6-phosphate transport defect	RCV000668663	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006	criteria provided, single submitter	tagSNP	rs1290401578
Clinvar_Rec_8420	rs370081222	Uncertain significance	Acute intermittent porphyria	RCV000308478	MedGen;OMIM;Orphanet;SNOMED CT	C0162565;176000;ORPHA79276;234422006	criteria provided, single submitter	tagSNP	rs370081222
Clinvar_Rec_8421	rs201656540	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided;not specified	RCV000266803;RCV000650503;RCV000440104	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201656540
Clinvar_Rec_8422	rs886047790	Uncertain significance	Noonan-Like Syndrome Disorder	RCV000288749	MedGen	CN239316	criteria provided, single submitter	tagSNP	rs886047790
Clinvar_Rec_8423	rs775450592	Uncertain significance	Noonan-Like Syndrome Disorder	RCV000284728	MedGen	CN239316	criteria provided, single submitter	tagSNP	rs775450592
Clinvar_Rec_8424	rs376134331	Benign	Noonan-Like Syndrome Disorder	RCV000327907	MedGen	CN239316	criteria provided, single submitter	tagSNP	rs376134331
Clinvar_Rec_8425	rs377666251	Conflicting interpretations of pathogenicity	Microphthalmia, isolated 6;Retinal degeneration	RCV000378383;RCV000321456	MedGen;OMIM;MedGen	C3150757;613517;Human Phenotype Ontology;C0035304	criteria provided, conflicting interpretations	tagSNP	rs377666251
Clinvar_Rec_8426	rs883247	Likely benign	Microphthalmia, isolated 6;Retinal degeneration	RCV000400633;RCV000347276	MedGen;OMIM;MedGen	C3150757;613517;Human Phenotype Ontology;C0035304	criteria provided, single submitter	tagSNP	rs883247
Clinvar_Rec_8427	rs536069	Benign	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified	RCV000373917;RCV000321553;RCV000038480	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs536069
Clinvar_Rec_8428	rs121909059	Pathogenic	Deafness, autosomal dominant 12	RCV000007431	MedGen;OMIM	C1832187;601543	no assertion criteria provided	tagSNP	rs121909059
Clinvar_Rec_8429	rs121909063	Likely pathogenic	Deafness, autosomal dominant 12;not provided	RCV000007437;RCV000756762	MedGen;OMIM	C1832187;601543;MedGen	criteria provided, single submitter	tagSNP	rs121909063
Clinvar_Rec_8430	rs760625340	Uncertain significance	Lathosterolosis	RCV000311343	MedGen;OMIM;Orphanet	C1846421;607330;ORPHA46059	criteria provided, single submitter	tagSNP	rs760625340
Clinvar_Rec_8431	rs72552157	Likely benign	Brugada syndrome	RCV000356900	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs72552157
Clinvar_Rec_8432	rs370826688	Uncertain significance	Brugada syndrome	RCV000298482	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs370826688
Clinvar_Rec_8433	rs577244366	Uncertain significance	Brugada syndrome	RCV000353285	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs577244366
Clinvar_Rec_8434	rs536588537	Uncertain significance	Gaze palsy, familial horizontal, with progressive scoliosis 1	RCV000288099	MedGen;OMIM	C4551964;607313	criteria provided, single submitter	tagSNP	rs536588537
Clinvar_Rec_8435	rs150700978	Likely pathogenic	Bicuspid aortic valve;Dilatation of ascending aorta	RCV000754494;RCV000754494	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen	HP;C0149630;ORPHA402075;72352009;Human Phenotype Ontology;C0856747	criteria provided, single submitter	tagSNP	rs150700978
Clinvar_Rec_8436	rs138370967	Likely pathogenic	Bicuspid aortic valve;Dilatation of ascending aorta	RCV000754493;RCV000754493	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen	HP;C0149630;ORPHA402075;72352009;Human Phenotype Ontology;C0856747	criteria provided, single submitter	tagSNP	rs138370967
Clinvar_Rec_8437	rs1565374246	Pathogenic	Ovarian Neoplasms	RCV000785427	MeSH;MedGen	D010051;CN236629	no assertion criteria provided	tagSNP	rs1565374246
Clinvar_Rec_8438	rs13424	Benign	Holoprosencephaly sequence	RCV000300393	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs13424
Clinvar_Rec_8439	rs13424	Likely benign	Holoprosencephaly sequence	RCV000405135	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	LD derived	rs3039
Clinvar_Rec_8440	rs73019373	Likely benign	Holoprosencephaly sequence	RCV000386523	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs73019373
Clinvar_Rec_8441	rs73019373	Likely benign	Holoprosencephaly sequence	RCV000300691	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	LD derived	rs73019370
Clinvar_Rec_8442	rs538899316	Uncertain significance	Hydrolethalus syndrome	RCV000278802	MedGen;Orphanet	C2931104;ORPHA2189	criteria provided, single submitter	LD derived	rs536727852
Clinvar_Rec_8443	rs751634994	Uncertain significance	Mitochondrial complex I deficiency	RCV000320572	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs751634994
Clinvar_Rec_8444	rs119462980	Uncertain significance	Mental retardation, autosomal dominant 4;not provided	RCV000003022;RCV000782039	MedGen;OMIM	C2675487;612581;MedGen	criteria provided, single submitter	tagSNP	rs119462980
Clinvar_Rec_8445	rs113761140	Uncertain significance	Familial hyperaldosteronism;Romano-Ward syndrome	RCV000286831;RCV000341775	MedGen;Orphanet;Orphanet;SNOMED CT	C3713420;ORPHA235936;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs113761140
Clinvar_Rec_8446	rs186315097	Likely benign	Familial hyperaldosteronism;Romano-Ward syndrome	RCV000319616;RCV000385811	MedGen;Orphanet;Orphanet;SNOMED CT	C3713420;ORPHA235936;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs186315097
Clinvar_Rec_8447	rs181648220	Likely benign	Familial hyperaldosteronism;Romano-Ward syndrome	RCV000287902;RCV000388891	MedGen;Orphanet;Orphanet;SNOMED CT	C3713420;ORPHA235936;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs181648220
Clinvar_Rec_8448	rs886048017	Uncertain significance	Familial hyperaldosteronism;Romano-Ward syndrome	RCV000399459;RCV000345161	MedGen;Orphanet;Orphanet;SNOMED CT	C3713420;ORPHA235936;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886048017
Clinvar_Rec_8449	rs533296754	Uncertain significance	Deficiency of isobutyryl-CoA dehydrogenase	RCV000399923	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	LD derived	rs561907589
Clinvar_Rec_8450	rs7943666	Likely benign	Deficiency of isobutyryl-CoA dehydrogenase	RCV000321109	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	LD derived	rs112372624
Clinvar_Rec_8451	rs143912522	Uncertain significance	Deficiency of isobutyryl-CoA dehydrogenase	RCV000304280	MedGen;OMIM;Orphanet;SNOMED CT	C1969809;611283;ORPHA79159;445274004	criteria provided, single submitter	tagSNP	rs143912522
Clinvar_Rec_8452	rs147121216	Conflicting interpretations of pathogenicity	Limb-Girdle Muscular Dystrophy, Recessive;Miyoshi myopathy;not provided;not specified	RCV000276909;RCV000329671;RCV000710077;RCV000332053	MedGen;Orphanet	CN239352;MedGen;ORPHA45448;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147121216
Clinvar_Rec_8453	rs767479331	Conflicting interpretations of pathogenicity	Limb-Girdle Muscular Dystrophy, Recessive;Miyoshi myopathy;not specified	RCV000319328;RCV000259365;RCV000606822	MedGen;Orphanet	CN239352;MedGen;ORPHA45448;MedGen	criteria provided, conflicting interpretations	tagSNP	rs767479331
Clinvar_Rec_8454	rs79739975	Likely benign	Aniridia, Cerebellar Ataxia, And Intellectual Disability;Anophthalmia;Congenital aniridia;Foveal hypoplasia and presenile cataract syndrome;Irido-corneo-trabecular dysgenesis;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000265732;RCV000407121;RCV000364054;RCV000309419;RCV000407135;RCV000305849;RCV000360468	MedGen;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	CN239197;Human Phenotype Ontology;C0003119;Human Phenotype Ontology;C0003076;ORPHA250923;69278003;MedGen;136520;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;148190;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs79739975
Clinvar_Rec_8455	rs79739975	Likely benign	Aniridia, Cerebellar Ataxia, And Intellectual Disability;Anophthalmia;Congenital aniridia;Foveal hypoplasia and presenile cataract syndrome;Irido-corneo-trabecular dysgenesis;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000395638;RCV000291955;RCV000344580;RCV000401249;RCV000343181;RCV000384032;RCV000304850	MedGen;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	CN239197;Human Phenotype Ontology;C0003119;Human Phenotype Ontology;C0003076;ORPHA250923;69278003;MedGen;136520;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;148190;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	LD derived	rs55756603
Clinvar_Rec_8456	rs79739975	Likely benign	Aniridia, Cerebellar Ataxia, And Intellectual Disability;Anophthalmia;Congenital aniridia;Foveal hypoplasia and presenile cataract syndrome;Irido-corneo-trabecular dysgenesis;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000342124;RCV000329407;RCV000377154;RCV000380395;RCV000380717;RCV000285056;RCV000272084	MedGen;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	CN239197;Human Phenotype Ontology;C0003119;Human Phenotype Ontology;C0003076;ORPHA250923;69278003;MedGen;136520;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;148190;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	LD derived	rs75563367
Clinvar_Rec_8457	rs886048194	Uncertain significance	Aniridia, Cerebellar Ataxia, And Intellectual Disability;Anophthalmia;Congenital aniridia;Foveal hypoplasia and presenile cataract syndrome;Irido-corneo-trabecular dysgenesis;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000333867;RCV000300661;RCV000304054;RCV000358876;RCV000260069;RCV000391332;RCV000354896	MedGen;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	CN239197;Human Phenotype Ontology;C0003119;Human Phenotype Ontology;C0003076;ORPHA250923;69278003;MedGen;136520;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;148190;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs886048194
Clinvar_Rec_8458	rs143477661	Conflicting interpretations of pathogenicity	Aniridia, Cerebellar Ataxia, And Intellectual Disability;Anophthalmia;Congenital aniridia;Foveal hypoplasia and presenile cataract syndrome;Irido-corneo-trabecular dysgenesis;Keratitis, hereditary;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome;not provided	RCV000301599;RCV000381110;RCV000400886;RCV000395656;RCV000291396;RCV000346346;RCV000342402;RCV000297452	MedGen;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	CN239197;Human Phenotype Ontology;C0003119;Human Phenotype Ontology;C0003076;ORPHA250923;69278003;MedGen;136520;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen;148190;MedGen;194072;ORPHA893;4135001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143477661
Clinvar_Rec_8459	rs121907927	Pathogenic	Aniridia 1	RCV000003649	MedGen;OMIM	C0344542;106210	no assertion criteria provided	tagSNP	rs121907927
Clinvar_Rec_8460	rs121907917	Pathogenic	Aniridia 1;Aniridia 1;Irido-corneo-trabecular dysgenesis;not provided	RCV000003632;RCV000536976;RCV000536976;RCV000312176	MedGen;OMIM;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0344542;106210;MedGen;106210;Human Phenotype Ontology;C4310809;604229;ORPHA708;204153003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121907917
Clinvar_Rec_8461	rs121907921	Pathogenic	ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES;Foveal hypoplasia 1 with or without anterior segment anomalies	RCV000003638;RCV000128793	MedGen	CN258953;MedGen	no assertion criteria provided	tagSNP	rs121907921
Clinvar_Rec_8462	rs771770230	Uncertain significance	Diffuse mesangial sclerosis;Meacham syndrome;Wilms Tumor;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000357021;RCV000300238;RCV000354013;RCV000400006	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C3151568;256370;111406002;236383002;MedGen;608978;ORPHA3097;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs771770230
Clinvar_Rec_8463	rs1554946600	Pathogenic	Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000557914;RCV000557914;RCV000557914;RCV000557914	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0950121;194080;ORPHA220;236385009;MedGen;136680;ORPHA347;445431000;MedGen;194070;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs1554946600
Clinvar_Rec_8464	rs926668379	Uncertain significance	Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000553840;RCV000553840;RCV000553840;RCV000553840	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0950121;194080;ORPHA220;236385009;MedGen;136680;ORPHA347;445431000;MedGen;194070;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs926668379
Clinvar_Rec_8465	rs926668379	Uncertain significance	Drash syndrome;Frasier syndrome;Wilms tumor 1;Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	RCV000698991;RCV000698991;RCV000698991;RCV000698991	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C0950121;194080;ORPHA220;236385009;MedGen;136680;ORPHA347;445431000;MedGen;194070;MedGen;194072;ORPHA893;4135001	criteria provided, single submitter	tagSNP	rs926668379
Clinvar_Rec_8466	rs774565620	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000313390	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs774565620
Clinvar_Rec_8467	rs201033364	Benign/Likely benign	Pyruvate dehydrogenase complex deficiency;not specified	RCV000293664;RCV000196329	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201033364
Clinvar_Rec_8468	rs1554944775	Uncertain significance	Combined cellular and humoral immune defects with granulomas	RCV000556779	MedGen;OMIM	C2673536;233650	criteria provided, single submitter	tagSNP	rs1554944775
Clinvar_Rec_8469	rs1317842420	Uncertain significance	Combined cellular and humoral immune defects with granulomas	RCV000645683	MedGen;OMIM	C2673536;233650	criteria provided, single submitter	tagSNP	rs1317842420
Clinvar_Rec_8470	rs104894282	Pathogenic	Severe combined immunodeficiency, B cell-negative	RCV000014022	MedGen	C1867362	no assertion criteria provided	tagSNP	rs104894282
Clinvar_Rec_8471	rs58344758	Benign/Likely benign	Histiocytic medullary reticulosis;Severe Combined Immune Deficiency;not specified	RCV000370544;RCV000297247;RCV000250266	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1980131
Clinvar_Rec_8472	rs58344758	Likely benign	Histiocytic medullary reticulosis;Severe Combined Immune Deficiency	RCV000378291;RCV000323545	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006;MedGen	criteria provided, single submitter	LD derived	rs4151040
Clinvar_Rec_8473	rs58344758	Likely benign	Histiocytic medullary reticulosis;Severe Combined Immune Deficiency	RCV000355976;RCV000263496	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006;MedGen	criteria provided, single submitter	LD derived	rs4151045
Clinvar_Rec_8474	rs58344758	Likely benign	Histiocytic medullary reticulosis;Severe Combined Immune Deficiency	RCV000286691;RCV000400804	MedGen;OMIM;Orphanet;SNOMED CT	C2700553;603554;ORPHA39041;307650006;MedGen	criteria provided, single submitter	LD derived	rs4151048
Clinvar_Rec_8475	rs121918280	Pathogenic	Multiple exostoses type 2;Seizures, scoliosis, and macrocephaly syndrome	RCV000002578;RCV000791300	MedGen;OMIM;OMIM;Orphanet	C1851413;133701;MedGen;616682;ORPHA466926	criteria provided, single submitter	tagSNP	rs121918280
Clinvar_Rec_8476	rs773486418	Uncertain significance	Hereditary Multiple Osteochondromatosis	RCV000281117	MedGen	CN239374	criteria provided, single submitter	tagSNP	rs773486418
Clinvar_Rec_8477	rs145507609	Uncertain significance	Multiple exostoses type 2	RCV000551058	MedGen;OMIM	C1851413;133701	criteria provided, single submitter	tagSNP	rs145507609
Clinvar_Rec_8478	rs766525768	Likely benign	Enlarged parietal foramina	RCV000387154	Human Phenotype Ontology;MedGen;Orphanet	HP;C1868598;ORPHA60015	criteria provided, single submitter	tagSNP	rs766525768
Clinvar_Rec_8479	rs55758172	Benign	Congenital disorder of glycosylation	RCV000368795	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs55758172
Clinvar_Rec_8480	rs886048335	Uncertain significance	Hereditary factor II deficiency disease;Venous thrombosis	RCV000321688;RCV000264279	MedGen;SNOMED CT;MedGen;OMIM;SNOMED CT	C0272317;33297000;Human Phenotype Ontology;C3160733;188050;234467004	criteria provided, single submitter	tagSNP	rs886048335
Clinvar_Rec_8481	rs121918478	Pathogenic	Hereditary factor II deficiency disease	RCV000014231	MedGen;SNOMED CT	C0272317;33297000	no assertion criteria provided	tagSNP	rs121918478
Clinvar_Rec_8482	rs387906883	Conflicting interpretations of pathogenicity	Myasthenic syndrome, congenital, 17;Sclerosteosis 2;Sclerosteosis 2;not provided	RCV000800068;RCV000023363;RCV000800068;RCV000490108	MedGen;OMIM;OMIM;OMIM	C4225377;616304;MedGen;614305;MedGen;614305;MedGen	criteria provided, conflicting interpretations	tagSNP	rs387906883
Clinvar_Rec_8483	rs528293600	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000777956;RCV000205702;RCV000035605	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs368221517
Clinvar_Rec_8484	rs1351250957	Uncertain significance	Hypertrophic cardiomyopathy	RCV000685678	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1351250957
Clinvar_Rec_8485	rs755160084	Uncertain significance	Hypertrophic cardiomyopathy	RCV000548875	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs755160084
Clinvar_Rec_8486	rs367980215	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769313;RCV000621573;RCV000527686;RCV000035527	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs367980215
Clinvar_Rec_8487	rs397515966	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	RCV000232323;RCV000157328;RCV000158365	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	HP;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515966
Clinvar_Rec_8488	rs730880652	Pathogenic	Cardiovascular phenotype;Hypertrophic cardiomyopathy;not provided	RCV000620524;RCV000551352;RCV000158364	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730880652
Clinvar_Rec_8489	rs775404728	Conflicting interpretations of pathogenicity	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;not provided	RCV000604898;RCV000458652;RCV000176522	MedGen;OMIM;MedGen;Orphanet	C1861862;115197;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs775404728
Clinvar_Rec_8490	rs397515964	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;not provided;not specified	RCV000459809;RCV000766352;RCV000035489	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397515964
Clinvar_Rec_8491	rs727504252	Pathogenic	Hypertrophic cardiomyopathy	RCV000154225	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	no assertion criteria provided	tagSNP	rs727504252
Clinvar_Rec_8492	rs1565625795	Likely pathogenic	Hypertrophic cardiomyopathy	RCV000768472	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1565625795
Clinvar_Rec_8493	rs397515956	Uncertain significance	Familial hypertrophic cardiomyopathy 4;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;not provided;not specified	RCV000515397;RCV000677325;RCV000227952;RCV000515397;RCV000766347;RCV000035475	MedGen;OMIM;OMIM;MedGen;Orphanet;OMIM	C1861862;115197;MedGen;115197;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;615396;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515956
Clinvar_Rec_8494	rs1565626205	Uncertain significance	Hypertrophic cardiomyopathy	RCV000700713	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1565626205
Clinvar_Rec_8495	rs397515929	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;not provided;not specified	RCV000771259;RCV000618801;RCV000299218;RCV000356394;RCV000264440;RCV000858924;RCV000035438	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397515929
Clinvar_Rec_8496	rs397515926	Pathogenic	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;not provided	RCV000620475;RCV000585656;RCV000628851;RCV000158353	MedGen;OMIM;MedGen;Orphanet	CN230736;MedGen;115197;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515926
Clinvar_Rec_8497	rs869025465	Pathogenic/Likely pathogenic	Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy	RCV000699273;RCV000208490	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	HP;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025465
Clinvar_Rec_8498	rs397515888	Pathogenic	Hypertrophic cardiomyopathy	RCV000035372	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs397515888
Clinvar_Rec_8499	rs886037902	Likely pathogenic	Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy	RCV000240632;RCV000768467	MedGen;OMIM;MedGen;Orphanet	C1861862;115197;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, multiple submitters, no conflicts	tagSNP	rs886037902
Clinvar_Rec_8500	rs876661369	Uncertain significance	Cardiovascular phenotype;not specified	RCV000250770;RCV000223813	MedGen	CN230736;MedGen	criteria provided, single submitter	tagSNP	rs876661369
Clinvar_Rec_8501	rs577328816	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;Wolff-Parkinson-White syndrome;not provided;not specified	RCV000999623;RCV000999623;RCV000505710;RCV000035416	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C0007194;ORPHA217569;Human Phenotype Ontology;C1963282;MedGen	criteria provided, conflicting interpretations	LD derived	rs397515912
Clinvar_Rec_8502	rs577328816	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Hypertrophic cardiomyopathy;not provided;not specified	RCV000249319;RCV000628923;RCV000497291;RCV000151124	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	LD derived	rs397515912
Clinvar_Rec_8503	rs529117281	Uncertain significance	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	RCV000653216;RCV000653216	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225367;616326;MedGen;208150;ORPHA994;401138005	criteria provided, single submitter	tagSNP	rs529117281
Clinvar_Rec_8504	rs757902272	Uncertain significance	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	RCV000653214;RCV000653214	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225367;616326;MedGen;208150;ORPHA994;401138005	criteria provided, single submitter	tagSNP	rs757902272
Clinvar_Rec_8505	rs747627949	Uncertain significance	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	RCV000706416;RCV000706416	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225367;616326;MedGen;208150;ORPHA994;401138005	criteria provided, single submitter	tagSNP	rs747627949
Clinvar_Rec_8506	rs189252183	Likely benign	Cardiomyopathy;Cardiovascular phenotype;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000770332;RCV000245670;RCV000030287;RCV000466462;RCV000035542	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs193922382
Clinvar_Rec_8507	rs104894270	Likely pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8	RCV000006391	MedGen;OMIM	C4748766;618230	criteria provided, single submitter	tagSNP	rs104894270
Clinvar_Rec_8508	rs28362952	Uncertain significance	Hereditary Angioedema	RCV000386360	MedGen	CN239191	criteria provided, single submitter	tagSNP	rs28362952
Clinvar_Rec_8509	rs1565117343	Pathogenic	Short stature	RCV000736214	Human Phenotype Ontology;MedGen	HP;C0349588	no assertion criteria provided	tagSNP	rs1565117343
Clinvar_Rec_8510	rs770530971	Likely benign	Intrinsic factor deficiency;not provided	RCV000190388;RCV000859940	MedGen;OMIM	C1394891;261000;MedGen	criteria provided, single submitter	tagSNP	rs770530971
Clinvar_Rec_8511	rs368945911	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	RCV000639338	MedGen;Orphanet	C1708353;ORPHA29072	criteria provided, single submitter	tagSNP	rs368945911
Clinvar_Rec_8512	rs753711279	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	RCV000639342	MedGen;Orphanet	C1708353;ORPHA29072	criteria provided, single submitter	tagSNP	rs753711279
Clinvar_Rec_8513	rs1245083102	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes	RCV000543373	MedGen;Orphanet	C1708353;ORPHA29072	criteria provided, single submitter	tagSNP	rs1245083102
Clinvar_Rec_8514	rs140920079	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	RCV000477172;RCV000574855	MedGen;Orphanet;Orphanet;SNOMED CT	C1708353;ORPHA29072;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs140920079
Clinvar_Rec_8515	rs972353	Benign	Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy	RCV000355356;RCV000298197;RCV000392227	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	CN239466;MedGen;153700;ORPHA1243;90036004;MedGen;193220;ORPHA3086	criteria provided, single submitter	tagSNP	rs972353
Clinvar_Rec_8516	rs121918287	Pathogenic	Bestrophinopathy, autosomal recessive	RCV000002865	MedGen;OMIM;Orphanet	C3888198;611809;ORPHA139455	no assertion criteria provided	tagSNP	rs121918287
Clinvar_Rec_8517	rs565138844	Likely benign	Iron Overload;Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy	RCV000389731;RCV000384131;RCV000344702;RCV000289773	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0282193;MedGen;153700;ORPHA1243;90036004;MedGen;193220;ORPHA3086	criteria provided, single submitter	tagSNP	rs565138844
Clinvar_Rec_8518	rs186448909	Likely benign	Iron Overload;Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy	RCV000385949;RCV000282008;RCV000392462;RCV000348713	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0282193;MedGen;153700;ORPHA1243;90036004;MedGen;193220;ORPHA3086	criteria provided, single submitter	tagSNP	rs186448909
Clinvar_Rec_8519	rs535206047	Pathogenic	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	RCV000700742	MedGen;OMIM;Orphanet	C3278404;245600;ORPHA284139	criteria provided, single submitter	tagSNP	rs535206047
Clinvar_Rec_8520	rs139468692	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000464780	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	LD derived	rs149907021
Clinvar_Rec_8521	rs778455259	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000699605	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs778455259
Clinvar_Rec_8522	rs1565143263	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000691320	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1565143263
Clinvar_Rec_8523	rs137852975	Pathogenic	Charcot-Marie-Tooth disease, type 2;Congenital generalized lipodystrophy type 2	RCV000196081;RCV000004805	MedGen;Orphanet;OMIM	C0270914;ORPHA64746;MedGen;269700	criteria provided, single submitter	tagSNP	rs137852975
Clinvar_Rec_8524	rs10776	Uncertain significance	Congenital generalized lipodystrophy (disease);Neurologic Disorders/Seipinopathy	RCV000265700;RCV000309083	Human Phenotype Ontology;MedGen	HP;C0221032;na	criteria provided, single submitter	tagSNP	rs10776
Clinvar_Rec_8525	rs10776	Conflicting interpretations of pathogenicity	Congenital generalized lipodystrophy (disease);Neurologic Disorders/Seipinopathy;not provided	RCV000269156;RCV000366070;RCV000236915	Human Phenotype Ontology;MedGen	HP;C0221032;na;MedGen	criteria provided, conflicting interpretations	tagSNP	rs10776
Clinvar_Rec_8526	rs747297291	Likely pathogenic	Congenital generalized lipodystrophy type 2	RCV000754918	MedGen;OMIM	C1720863;269700	no assertion criteria provided	tagSNP	rs747297291
Clinvar_Rec_8527	rs878855171	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000228112	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs878855171
Clinvar_Rec_8528	rs121918296	Pathogenic	Leukocyte adhesion deficiency, type III	RCV000002828	MedGen;OMIM;Orphanet	C2748536;612840;ORPHA99844	no assertion criteria provided	tagSNP	rs121918296
Clinvar_Rec_8529	rs150500299	Uncertain significance	Leukocyte adhesion deficiency, type III	RCV000704580	MedGen;OMIM;Orphanet	C2748536;612840;ORPHA99844	criteria provided, single submitter	tagSNP	rs150500299
Clinvar_Rec_8530	rs373315115	Uncertain significance	Leukocyte adhesion deficiency, type III	RCV000646730	MedGen;OMIM;Orphanet	C2748536;612840;ORPHA99844	criteria provided, single submitter	tagSNP	rs373315115
Clinvar_Rec_8531	rs755213790	Uncertain significance	Familial renal hypouricemia	RCV000381478	MedGen;OMIM;SNOMED CT	C0473219;220150;236478009	criteria provided, single submitter	tagSNP	rs755213790
Clinvar_Rec_8532	rs143177272	Uncertain significance	Glycogen storage disease, type V;not provided	RCV000763759;RCV000321977	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143177272
Clinvar_Rec_8533	rs141959242	Conflicting interpretations of pathogenicity	Glycogen storage disease, type V;not provided;not specified	RCV000310215;RCV000725611;RCV000407094	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141959242
Clinvar_Rec_8534	rs767739769	Pathogenic/Likely pathogenic	Glycogen storage disease, type V;not provided	RCV000169167;RCV000627209	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767739769
Clinvar_Rec_8535	rs551666681	Uncertain significance	Glycogen storage disease, type V	RCV000377529	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009	criteria provided, single submitter	tagSNP	rs551666681
Clinvar_Rec_8536	rs1555136459	Likely pathogenic	Glycogen storage disease, type V	RCV000668184	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009	criteria provided, single submitter	tagSNP	rs1555136459
Clinvar_Rec_8537	rs886048478	Uncertain significance	Hyperparathyroidism;Multiple endocrine neoplasia	RCV000308171;RCV000365188	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT	HP;C0020502;ORPHA181408;MedGen;ORPHA276161;46724008	criteria provided, single submitter	tagSNP	rs886048478
Clinvar_Rec_8538	rs1060499985	Uncertain significance	Multiple endocrine neoplasia, type 1	RCV000457365	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D018761;C0025267;131100;ORPHA652;30664006	criteria provided, single submitter	tagSNP	rs1060499985
Clinvar_Rec_8539	rs181808867	Pathogenic	Glycogen storage disease, type V;not provided	RCV000002389;RCV000414632	MedGen;OMIM;Orphanet;SNOMED CT	C0017924;232600;ORPHA368;55912009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs119103251
Clinvar_Rec_8540	rs145041278	Uncertain significance	Dental anomalies and short stature	RCV000684855	MedGen;OMIM;Orphanet	C1832594;601216;ORPHA2899	criteria provided, single submitter	tagSNP	rs145041278
Clinvar_Rec_8541	rs559704168	Pathogenic	Aicardi Goutieres syndrome 3	RCV000001323	MedGen;OMIM	C1835916;610329	no assertion criteria provided	LD derived	rs75146158
Clinvar_Rec_8542	rs28403592	Conflicting interpretations of pathogenicity	GELEOPHYSIC DYSPLASIA 3;not provided	RCV000662060;RCV000877794	MedGen;OMIM	C4540511;617809;MedGen	criteria provided, conflicting interpretations	tagSNP	rs28403592
Clinvar_Rec_8543	rs200373867	Likely benign	History of neurodevelopmental disorder	RCV000719528	MedGen	C2711754	criteria provided, single submitter	LD derived	rs201326960
Clinvar_Rec_8544	rs2234461	Conflicting interpretations of pathogenicity	Cutis laxa, recessive;not provided	RCV000336053;RCV000840857	MedGen	C2931134;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2234461
Clinvar_Rec_8545	rs368646160	Conflicting interpretations of pathogenicity	Cutis laxa, recessive;not provided	RCV000296417;RCV000873647	MedGen	C2931134;MedGen	criteria provided, conflicting interpretations	LD derived	rs140946753
Clinvar_Rec_8546	rs144320036	Conflicting interpretations of pathogenicity	Autosomal recessive cutis laxa type 1B;not provided;not specified	RCV001000039;RCV000761780;RCV000444545	MedGen;OMIM	C3280798;614437;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144320036
Clinvar_Rec_8547	rs886037928	Pathogenic	Thauvin-Robinet-Faivre syndrome	RCV000240848	MedGen;OMIM;Orphanet	C4310715;617107;ORPHA500095	no assertion criteria provided	tagSNP	rs886037928
Clinvar_Rec_8548	rs373009756	Uncertain significance	Male infertility	RCV000297060	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0021364;ORPHA98048;2904007	criteria provided, single submitter	tagSNP	rs373009756
Clinvar_Rec_8549	rs510398	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715985;RCV000525028;RCV000117885	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75352646
Clinvar_Rec_8550	rs510398	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715988;RCV000554209;RCV000117887	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs572697
Clinvar_Rec_8551	rs143313688	Conflicting interpretations of pathogenicity	Seizures;not provided	RCV000716394;RCV000968779	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143313688
Clinvar_Rec_8552	rs368125962	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000308925	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs368125962
Clinvar_Rec_8553	rs145249947	Conflicting interpretations of pathogenicity	Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided	RCV000330285;RCV000709683;RCV000857429	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;209900;MedGen	criteria provided, conflicting interpretations	LD derived	rs150553044
Clinvar_Rec_8554	rs74909073	Conflicting interpretations of pathogenicity	Spinocerebellar Ataxia, Dominant;not provided	RCV000404927;RCV000954640	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, conflicting interpretations	tagSNP	rs74909073
Clinvar_Rec_8555	rs148175230	Likely benign	Spinocerebellar Ataxia, Dominant	RCV000312246	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	LD derived	rs11828658
Clinvar_Rec_8556	rs148175230	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000404085;RCV000963944	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116078747
Clinvar_Rec_8557	rs148175230	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000335838;RCV000713026	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116078747
Clinvar_Rec_8558	rs148175230	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000313826;RCV000713024	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34275473
Clinvar_Rec_8559	rs148175230	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000366078;RCV000713061	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114331192
Clinvar_Rec_8560	rs148175230	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not provided	RCV000280440;RCV000713032	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78309877
Clinvar_Rec_8561	rs201796252	Conflicting interpretations of pathogenicity	Pyruvate carboxylase deficiency;not provided	RCV000356215;RCV000979560	MedGen;OMIM;Orphanet;SNOMED CT	C0034341;266150;ORPHA3008;87694001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201796252
Clinvar_Rec_8562	rs113994142	Likely pathogenic	Pyruvate carboxylase deficiency;not provided	RCV000675077;RCV000431389	MedGen;OMIM;Orphanet;SNOMED CT	C0034341;266150;ORPHA3008;87694001;MedGen	criteria provided, single submitter	tagSNP	rs113994142
Clinvar_Rec_8563	rs113994142	Pathogenic	Pyruvate carboxylase deficiency	RCV000020392	MedGen;OMIM;Orphanet;SNOMED CT	C0034341;266150;ORPHA3008;87694001	no assertion criteria provided	tagSNP	rs113994142
Clinvar_Rec_8564	rs121917828	Uncertain significance	Congenital stationary night blindness, type 2B;not provided	RCV000002030;RCV001049798	MedGen;OMIM	C4041558;610427;MedGen	criteria provided, single submitter	tagSNP	rs121917828
Clinvar_Rec_8565	rs641081	Benign	Familial Isolated Pituitary Adenomas;Hereditary cancer-predisposing syndrome;not specified	RCV000385512;RCV000562183;RCV000253961	MedGen;Orphanet;SNOMED CT	CN239192;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs641081
Clinvar_Rec_8566	rs1384518387	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571549	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1384518387
Clinvar_Rec_8567	rs1390104426	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567508	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1390104426
Clinvar_Rec_8568	rs142499054	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex I deficiency;not provided	RCV000265767;RCV000327949;RCV000761787	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142499054
Clinvar_Rec_8569	rs200270653	Benign/Likely benign	Familial Isolated Pituitary Adenomas;Hereditary cancer-predisposing syndrome;not provided	RCV000353410;RCV000571152;RCV000919747	MedGen;Orphanet;SNOMED CT	CN239192;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79662690
Clinvar_Rec_8570	rs28939679	Likely pathogenic	Leigh syndrome;MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2;not provided	RCV000762861;RCV000007941;RCV000442702	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0023264;256000;ORPHA506;29570005;MedGen;618222;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28939679
Clinvar_Rec_8571	rs1555028154	Pathogenic	Intellectual disability, autosomal dominant 51	RCV000515806	MedGen;OMIM	C4540474;617788	no assertion criteria provided	tagSNP	rs1555028154
Clinvar_Rec_8572	rs1555034768	Pathogenic	Intellectual disability, autosomal dominant 51	RCV000677412	MedGen;OMIM	C4540474;617788	no assertion criteria provided	tagSNP	rs1555034768
Clinvar_Rec_8573	rs397515543	Pathogenic	Carnitine palmitoyltransferase I deficiency	RCV000055854	MedGen;OMIM;SNOMED CT	C0342789;255120;238001003	no assertion criteria provided	tagSNP	rs397515543
Clinvar_Rec_8574	rs144866081	Uncertain significance	Carnitine palmitoyl transferase 1A deficiency;not provided	RCV000697594;RCV000732851	MedGen;Orphanet	C1829703;ORPHA156;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144866081
Clinvar_Rec_8575	rs76707931	Conflicting interpretations of pathogenicity	Spinal muscular atrophy;not provided;not specified	RCV000292195;RCV000547375;RCV000179403	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs76707931
Clinvar_Rec_8576	rs76707931	Conflicting interpretations of pathogenicity	Spinal muscular atrophy;not provided;not specified	RCV000303117;RCV000557136;RCV000180227	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007;MedGen	criteria provided, conflicting interpretations	LD derived	rs148157556
Clinvar_Rec_8577	rs76707931	Uncertain significance	Spinal muscular atrophy	RCV000386099	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007	criteria provided, single submitter	LD derived	rs139118510
Clinvar_Rec_8578	rs76707931	Uncertain significance	Spinal muscular atrophy	RCV000329037	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007	criteria provided, single submitter	LD derived	rs139118510
Clinvar_Rec_8579	rs1565526121	Likely pathogenic	Autism 17;not provided	RCV001028010;RCV000760886	MedGen;OMIM	C3150693;613436;MedGen	criteria provided, single submitter	tagSNP	rs1565526121
Clinvar_Rec_8580	rs1565527302	Pathogenic	Autism spectrum disorder	RCV000754680	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs1565527302
Clinvar_Rec_8581	rs775735710	Uncertain significance	Smith-Lemli-Opitz syndrome;not provided	RCV000277230;RCV000730759	MedGen;OMIM;Orphanet;SNOMED CT	C0175694;270400;ORPHA818;43929004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775735710
Clinvar_Rec_8582	rs4316537	Benign/Likely benign	History of neurodevelopmental disorder;Smith-Lemli-Opitz syndrome;not specified	RCV000715281;RCV000329907;RCV000079650	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;270400;ORPHA818;43929004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4316537
Clinvar_Rec_8583	rs370748173	Uncertain significance	Smith-Lemli-Opitz syndrome;not provided	RCV000706474;RCV000178161	MedGen;OMIM;Orphanet;SNOMED CT	C0175694;270400;ORPHA818;43929004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370748173
Clinvar_Rec_8584	rs1418528138	Likely benign	History of neurodevelopmental disorder	RCV000719492	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1418528138
Clinvar_Rec_8585	rs1790334	Benign	History of neurodevelopmental disorder;Smith-Lemli-Opitz syndrome;not specified	RCV000715209;RCV000368185;RCV000079649	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;270400;ORPHA818;43929004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1790334
Clinvar_Rec_8586	rs530544263	Uncertain significance	Deafness, autosomal recessive 63	RCV000714890	MedGen;OMIM	C1969621;611451	criteria provided, single submitter	LD derived	rs529549122
Clinvar_Rec_8587	rs73543612	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000353831	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs73543612
Clinvar_Rec_8588	rs73543612	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000343916;RCV000712230;RCV000037017	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12272086
Clinvar_Rec_8589	rs150291837	Conflicting interpretations of pathogenicity	Jeune thoracic dystrophy;Joubert syndrome	RCV000754955;RCV000201697	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT	C0265275;ORPHA474;75049004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004	criteria provided, conflicting interpretations	tagSNP	rs150291837
Clinvar_Rec_8590	rs569354316	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000330024;RCV000369577;RCV000277269	MedGen;OMIM;SNOMED CT	CN239435;MedGen;500004;57838006	criteria provided, single submitter	LD derived	rs111534474
Clinvar_Rec_8591	rs569354316	Uncertain significance	Deafness, autosomal recessive 2	RCV000666902	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	LD derived	rs111534474
Clinvar_Rec_8592	rs1555054736	Uncertain significance	Deafness, autosomal recessive 2	RCV000671346	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	tagSNP	rs1555054736
Clinvar_Rec_8593	rs372344870	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000331580;RCV000295336;RCV000380951	MedGen;OMIM;SNOMED CT	CN239435;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs372344870
Clinvar_Rec_8594	rs41298135	Likely benign	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome;Usher syndrome, type 1B;not provided;not specified	RCV000282374;RCV000337254;RCV000386045;RCV000758141;RCV000012626;RCV000835045;RCV000036251	MedGen;OMIM;SNOMED CT;MedGen;Orphanet	CN239435;MedGen;500004;57838006;MeSH;C0271097;ORPHA886;MedGen	reviewed by expert panel	tagSNP	rs41298135
Clinvar_Rec_8595	rs187165412	Conflicting interpretations of pathogenicity	Deafness, autosomal recessive 2;not provided;not specified	RCV000666745;RCV001033976;RCV000151488	MedGen;OMIM	C1838701;600060;MedGen	criteria provided, conflicting interpretations	tagSNP	rs187165412
Clinvar_Rec_8596	rs1555082145	Likely pathogenic	Deafness, autosomal recessive 2	RCV000670160	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	tagSNP	rs1555082145
Clinvar_Rec_8597	rs727504631	Likely benign	Deafness, autosomal recessive 2;not specified	RCV000666779;RCV000155891	MedGen;OMIM	C1838701;600060;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727504631
Clinvar_Rec_8598	rs397516303	Pathogenic	Rare genetic deafness	RCV000036121	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs397516303
Clinvar_Rec_8599	rs1057517857	Pathogenic/Likely pathogenic	Deafness, autosomal dominant 11;Deafness, autosomal recessive 2;Deafness, autosomal recessive 2;not provided	RCV000763280;RCV000670142;RCV000763280;RCV000413055	MedGen;OMIM;OMIM;OMIM	C1832475;601317;MedGen;600060;MedGen;600060;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057517857
Clinvar_Rec_8600	rs397516304	Pathogenic	Rare genetic deafness	RCV000036123	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs397516304
Clinvar_Rec_8601	rs750358148	Likely pathogenic	Usher syndrome;not provided	RCV000504890;RCV000482515	MeSH;MedGen;Orphanet	D052245;C0271097;ORPHA886;MedGen	criteria provided, single submitter	tagSNP	rs750358148
Clinvar_Rec_8602	rs750358148	Pathogenic	Deafness, autosomal recessive 2	RCV000681546	MedGen;OMIM	C1838701;600060	no assertion criteria provided	tagSNP	rs750358148
Clinvar_Rec_8603	rs1555091636	Likely pathogenic	Deafness, autosomal recessive 2	RCV000674688	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	tagSNP	rs1555091636
Clinvar_Rec_8604	rs1555100273	Likely pathogenic	Deafness, autosomal recessive 2	RCV000670858	MedGen;OMIM	C1838701;600060	criteria provided, single submitter	tagSNP	rs1555100273
Clinvar_Rec_8605	rs7927472	Benign	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified	RCV000351371;RCV000296516;RCV000403200;RCV000036162	MedGen;OMIM;SNOMED CT	CN239435;MedGen;500004;57838006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7927472
Clinvar_Rec_8606	rs111033287	Conflicting interpretations of pathogenicity	Deafness, autosomal recessive 2;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified	RCV000988615;RCV000391447;RCV000345630;RCV000286019;RCV000723623;RCV000036183	MedGen;OMIM;OMIM;SNOMED CT	C1838701;600060;MedGen;500004;57838006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs111033287
Clinvar_Rec_8607	rs797046082	Likely pathogenic	Tyrosinase-negative oculocutaneous albinism	RCV000195203	MedGen;OMIM;Orphanet;SNOMED CT	C4551504;203100;ORPHA79431;6483008	criteria provided, single submitter	tagSNP	rs797046082
Clinvar_Rec_8608	rs377209424	Likely pathogenic	Tyrosinase-negative oculocutaneous albinism	RCV000501190	MedGen;OMIM;Orphanet;SNOMED CT	C4551504;203100;ORPHA79431;6483008	criteria provided, single submitter	tagSNP	rs377209424
Clinvar_Rec_8609	rs876660562	Likely benign	Hereditary cancer-predisposing syndrome	RCV000221307	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660562
Clinvar_Rec_8610	rs1028566396	Uncertain significance	Ataxia-telangiectasia-like disorder;Hereditary cancer-predisposing syndrome	RCV000627769;RCV000463914	MedGen;Orphanet;SNOMED CT	C1858391;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1028566396
Clinvar_Rec_8611	rs1060501786	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000467644	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060501786
Clinvar_Rec_8612	rs1376550081	Pathogenic	Ataxia-telangiectasia-like disorder;Hereditary cancer-predisposing syndrome	RCV001052429;RCV000575912	MedGen;Orphanet;SNOMED CT	C1858391;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1376550081
Clinvar_Rec_8613	rs560102780	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000219037;RCV000876987	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs560102780
Clinvar_Rec_8614	rs1555009360	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571233	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555009360
Clinvar_Rec_8615	rs1805367	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217682	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1805367
Clinvar_Rec_8616	rs876660343	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000219374	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660343
Clinvar_Rec_8617	rs1555009398	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563508	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555009398
Clinvar_Rec_8618	rs876660947	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000215972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660947
Clinvar_Rec_8619	rs777751367	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000197102	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs777751367
Clinvar_Rec_8620	rs886048761	Uncertain significance	Ataxia-telangiectasia-like disorder 1	RCV000273871	MedGen;OMIM;Orphanet	C4012790;604391;ORPHA251347	criteria provided, single submitter	tagSNP	rs886048761
Clinvar_Rec_8621	rs1555052278	Pathogenic	Mosaic variegated aneuploidy syndrome	RCV000498788	MedGen;Orphanet	C1850343;ORPHA1052	no assertion criteria provided	tagSNP	rs1555052278
Clinvar_Rec_8622	rs149293164	Uncertain significance	Mosaic variegated aneuploidy syndrome 2	RCV000538321	MedGen;OMIM	C3279843;614114	criteria provided, single submitter	tagSNP	rs149293164
Clinvar_Rec_8623	rs1565334264	Uncertain significance	Mosaic variegated aneuploidy syndrome 2	RCV000696209	MedGen;OMIM	C3279843;614114	criteria provided, single submitter	tagSNP	rs1565334264
Clinvar_Rec_8624	rs930693151	Uncertain significance	Mosaic variegated aneuploidy syndrome 2	RCV000703940	MedGen;OMIM	C3279843;614114	criteria provided, single submitter	tagSNP	rs930693151
Clinvar_Rec_8625	rs137852735	Pathogenic	Hereditary sensory and autonomic neuropathy type IIA;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C	RCV000020432;RCV000647840;RCV000647840	MedGen;OMIM;OMIM;OMIM;Orphanet	C2752089;201300;MedGen;201300;MedGen;614492;ORPHA88940	criteria provided, single submitter	tagSNP	rs137852735
Clinvar_Rec_8626	rs886049905	Uncertain significance	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A	RCV000300809;RCV000262069	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs886049905
Clinvar_Rec_8627	rs115201917	Benign/Likely benign	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A;not provided;not specified	RCV000405458;RCV000346687;RCV000872734;RCV000592867	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72650758
Clinvar_Rec_8628	rs200977656	Uncertain significance	Cone dystrophy 3	RCV000373242	MedGen;OMIM	C1865869;602093	criteria provided, single submitter	tagSNP	rs200977656
Clinvar_Rec_8629	rs377756881	Conflicting interpretations of pathogenicity	Cone dystrophy 3;not provided	RCV000285700;RCV000982150	MedGen;OMIM	C1865869;602093;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377756881
Clinvar_Rec_8630	rs186411400	Benign/Likely benign	Brugada syndrome;Cardiovascular phenotype;History of neurodevelopmental disorder;Timothy syndrome;not provided;not specified	RCV000355697;RCV000619661;RCV000715633;RCV000300845;RCV000588907;RCV000124095	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1142166;ORPHA130;418818005;MedGen;601005;ORPHA65283;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs192749597
Clinvar_Rec_8631	rs752694570	Uncertain significance	Long QT syndrome;not provided	RCV000631605;RCV000994774	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752694570
Clinvar_Rec_8632	rs114210134	Likely benign	Brugada syndrome;Timothy syndrome	RCV000406187;RCV000295492	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1142166;ORPHA130;418818005;MedGen;601005;ORPHA65283	criteria provided, single submitter	tagSNP	rs114210134
Clinvar_Rec_8633	rs13312798	Likely benign	Hypophosphatemic Rickets, Dominant;Tumoral calcinosis, hyperphosphatemic, familial	RCV000363507;RCV000304136	MedGen;Orphanet	CN239437;MedGen;ORPHA306661	criteria provided, single submitter	tagSNP	rs13312798
Clinvar_Rec_8634	rs13312797	Uncertain significance	Hypophosphatemic Rickets, Dominant;Tumoral calcinosis, hyperphosphatemic, familial	RCV000328628;RCV000268932	MedGen;Orphanet	CN239437;MedGen;ORPHA306661	criteria provided, single submitter	tagSNP	rs13312797
Clinvar_Rec_8635	rs1220533001	Pathogenic	Hyperphosphatemic familial tumoral calcinosis 1	RCV000513584	MedGen;OMIM	C4692564;211900	criteria provided, single submitter	tagSNP	rs1220533001
Clinvar_Rec_8636	rs749969789	Pathogenic	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	RCV000723367	MedGen;OMIM	C4748732;618221	no assertion criteria provided	tagSNP	rs749969789
Clinvar_Rec_8637	rs886049509	Uncertain significance	Episodic ataxia;Myokymia	RCV000278942;RCV000373544	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C1720189;ORPHA211062;Human Phenotype Ontology;C0684219	criteria provided, single submitter	tagSNP	rs886049509
Clinvar_Rec_8638	rs121918067	Pathogenic	Myokymia 1 with hypomagnesemia	RCV000014438	MedGen	C4016334	no assertion criteria provided	tagSNP	rs121918067
Clinvar_Rec_8639	rs7974559	Benign	Episodic ataxia;Myokymia	RCV000322618;RCV000260392	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C1720189;ORPHA211062;Human Phenotype Ontology;C0684219	criteria provided, single submitter	tagSNP	rs7974559
Clinvar_Rec_8640	rs7974559	Benign	Episodic ataxia;Myokymia;not provided;not specified	RCV000288623;RCV000390363;RCV000712105;RCV000117315	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C1720189;ORPHA211062;Human Phenotype Ontology;C0684219;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1048500
Clinvar_Rec_8641	rs7974559	Benign	Episodic ataxia;Myokymia;not provided;not specified	RCV000271582;RCV000377766;RCV000712098;RCV000175556	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C1720189;ORPHA211062;Human Phenotype Ontology;C0684219;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4766310
Clinvar_Rec_8642	rs7974559	Benign	Episodic ataxia;Myokymia	RCV000391844;RCV000304169	Human Phenotype Ontology;MedGen;Orphanet;MedGen	HP;C1720189;ORPHA211062;Human Phenotype Ontology;C0684219	criteria provided, single submitter	LD derived	rs4766311
Clinvar_Rec_8643	rs376660949	Conflicting interpretations of pathogenicity	Atrial fibrillation, familial, 7;Familial atrial fibrillation	RCV000533761;RCV000333072	MedGen;OMIM;Orphanet	C2677106;612240;MedGen;ORPHA334	criteria provided, conflicting interpretations	tagSNP	rs376660949
Clinvar_Rec_8644	rs121908590	Pathogenic	Atrial fibrillation, familial, 7	RCV000014411	MedGen;OMIM	C2677106;612240	no assertion criteria provided	tagSNP	rs121908590
Clinvar_Rec_8645	rs201342234	Uncertain significance	Atrial fibrillation, familial, 7	RCV000646128	MedGen;OMIM	C2677106;612240	criteria provided, single submitter	tagSNP	rs201342234
Clinvar_Rec_8646	rs200209213	Uncertain significance	von Willebrand disorder	RCV000337134	MedGen;Orphanet;SNOMED CT	C0042974;ORPHA903;128105004	criteria provided, single submitter	tagSNP	rs200209213
Clinvar_Rec_8647	rs61749398	Pathogenic	not provided;von Willebrand disease type 2M	RCV000086716;RCV000000327	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA166090;359729006	no assertion criteria provided	tagSNP	rs61749398
Clinvar_Rec_8648	rs16933969	Benign/Likely benign	not provided;not specified;von Willebrand disorder	RCV000755444;RCV000245740;RCV000366164	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA903;128105004	criteria provided, multiple submitters, no conflicts	tagSNP	rs16933969
Clinvar_Rec_8649	rs61748478	Pathogenic	not provided;von Willebrand disease type 2N	RCV000086607;RCV000000340	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA166093;359732009	no assertion criteria provided	tagSNP	rs61748478
Clinvar_Rec_8650	rs776206258	Conflicting interpretations of pathogenicity	not provided;von Willebrand disorder	RCV000994823;RCV000277342	MedGen;Orphanet;SNOMED CT	CN517202;MedGen;ORPHA903;128105004	criteria provided, conflicting interpretations	tagSNP	rs776206258
Clinvar_Rec_8651	rs7980045	Benign/Likely benign	not specified;von Willebrand disorder	RCV000244961;RCV000332497	MedGen;Orphanet;SNOMED CT	CN169374;MedGen;ORPHA903;128105004	criteria provided, multiple submitters, no conflicts	tagSNP	rs7980045
Clinvar_Rec_8652	rs104895276	Likely pathogenic	TNF receptor-associated periodic fever syndrome (TRAPS)	RCV000083947	MedGen;OMIM;Orphanet;SNOMED CT	C1275126;142680;ORPHA32960;403833009	criteria provided, single submitter	tagSNP	rs104895276
Clinvar_Rec_8653	rs104895232	Likely pathogenic	TNF receptor-associated periodic fever syndrome (TRAPS)	RCV000083921	MedGen;OMIM;Orphanet;SNOMED CT	C1275126;142680;ORPHA32960;403833009	criteria provided, single submitter	tagSNP	rs104895232
Clinvar_Rec_8654	rs104895238	not provided	TNF receptor-associated periodic fever syndrome (TRAPS)	RCV000083916	MedGen;OMIM;Orphanet;SNOMED CT	C1275126;142680;ORPHA32960;403833009	no assertion provided	tagSNP	rs104895238
Clinvar_Rec_8655	rs104895246	not provided	TNF receptor-associated periodic fever syndrome (TRAPS)	RCV000083915	MedGen;OMIM;Orphanet;SNOMED CT	C1275126;142680;ORPHA32960;403833009	no assertion provided	tagSNP	rs104895246
Clinvar_Rec_8656	rs149484264	Uncertain significance	Cystic Fibrosis-Like Syndrome;not specified	RCV000280531;RCV000215836	MedGen	CN239358;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149484264
Clinvar_Rec_8657	rs370863694	Uncertain significance	Triosephosphate isomerase deficiency	RCV000383817	MedGen;OMIM;Orphanet	C1860808;615512;ORPHA868	criteria provided, single submitter	tagSNP	rs370863694
Clinvar_Rec_8658	rs146875386	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000369906	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs146875386
Clinvar_Rec_8659	rs61752137	Pathogenic	Peroxisome biogenesis disorder 2A (Zellweger);not provided	RCV000009715;RCV000483391	MedGen;OMIM	C3550273;214110;MedGen	criteria provided, single submitter	tagSNP	rs61752137
Clinvar_Rec_8660	rs760431477	Uncertain significance	Nonsyndromic Hearing Loss, Dominant	RCV000396555	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs760431477
Clinvar_Rec_8661	rs12229901	Likely benign	Mucolipidosis, Type III Alpha/Beta	RCV000371749	MedGen	CN239170	criteria provided, single submitter	LD derived	rs59855215
Clinvar_Rec_8662	rs12229901	Benign/Likely benign	Mucolipidosis, Type III Alpha/Beta;not provided;not specified	RCV000365527;RCV000588036;RCV000082188	MedGen	CN239170;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs4764655
Clinvar_Rec_8663	rs58690284	Uncertain significance	Growth delay due to insulin-like growth factor type 1 deficiency	RCV000367449	MedGen;OMIM;Orphanet	C1837475;608747;ORPHA73272	criteria provided, single submitter	tagSNP	rs58690284
Clinvar_Rec_8664	rs55650342	Uncertain significance	Growth delay due to insulin-like growth factor type 1 deficiency	RCV000311101	MedGen;OMIM;Orphanet	C1837475;608747;ORPHA73272	criteria provided, single submitter	tagSNP	rs55650342
Clinvar_Rec_8665	rs1555203363	Likely pathogenic	Phenylketonuria	RCV000666334	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006	criteria provided, single submitter	tagSNP	rs1555203363
Clinvar_Rec_8666	rs59326968	Benign	Phenylketonuria;not provided;not specified	RCV000400696;RCV000088823;RCV000078509	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	reviewed by expert panel	tagSNP	rs59326968
Clinvar_Rec_8667	rs62644473	Pathogenic	Phenylketonuria;not provided	RCV000000667;RCV000088804	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	no assertion criteria provided	tagSNP	rs62644473
Clinvar_Rec_8668	rs5030857	Pathogenic	Inborn genetic diseases;Phenylketonuria;not provided	RCV000622360;RCV000150075;RCV000078506	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D030342;C0950123;MedGen;261600;ORPHA716;154735006;MedGen	reviewed by expert panel	tagSNP	rs5030857
Clinvar_Rec_8669	rs62642919	Likely pathogenic	Phenylketonuria	RCV000106371	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006	no assertion criteria provided	tagSNP	rs62642919
Clinvar_Rec_8670	rs5030851	Likely pathogenic	Phenylketonuria;not provided	RCV000000620;RCV000078534	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	reviewed by expert panel	tagSNP	rs5030851
Clinvar_Rec_8671	rs199475688	Uncertain significance	Phenylketonuria;not provided	RCV000993618;RCV000089006	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	reviewed by expert panel	tagSNP	rs199475688
Clinvar_Rec_8672	rs1801145	Uncertain significance	Phenylketonuria;not provided	RCV000779088;RCV000088895	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	criteria provided, single submitter	tagSNP	rs1801145
Clinvar_Rec_8673	rs62517177	Likely benign	Phenylketonuria;not provided	RCV000329273;RCV000088690	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006;MedGen	criteria provided, single submitter	tagSNP	rs62517177
Clinvar_Rec_8674	rs62517177	Likely benign	Phenylketonuria	RCV000271902	MedGen;OMIM;Orphanet;SNOMED CT	C0751434;261600;ORPHA716;154735006	criteria provided, single submitter	LD derived	rs7954004
Clinvar_Rec_8675	rs560914710	Likely benign	Pol III-related leukodystrophy	RCV000336147	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs560914710
Clinvar_Rec_8676	rs17219334	Uncertain significance	Pol III-related leukodystrophy	RCV000400888	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs17219334
Clinvar_Rec_8677	rs75217257	Uncertain significance	Pol III-related leukodystrophy	RCV000400106	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs75217257
Clinvar_Rec_8678	rs200602841	Likely benign	Immunodeficiency with Hyper-IgM	RCV000379287	MedGen	CN239447	criteria provided, single submitter	tagSNP	rs200602841
Clinvar_Rec_8679	rs200602841	Likely benign	Immunodeficiency with Hyper-IgM	RCV000281414	MedGen	CN239447	criteria provided, single submitter	LD derived	rs3219275
Clinvar_Rec_8680	rs546885397	Uncertain significance	Methylmalonic acidemia	RCV000287864	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	tagSNP	rs546885397
Clinvar_Rec_8681	rs104895308	not provided	Hyperimmunoglobulin D with periodic fever	RCV000083892	MedGen;OMIM;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002	no assertion provided	tagSNP	rs104895308
Clinvar_Rec_8682	rs104895340	not provided	Hyperimmunoglobulin D with periodic fever	RCV000083819	MedGen;OMIM;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002	no assertion provided	tagSNP	rs104895340
Clinvar_Rec_8683	rs104895383	not provided	Hyperimmunoglobulin D with periodic fever	RCV000083822	MedGen;OMIM;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002	no assertion provided	tagSNP	rs104895383
Clinvar_Rec_8684	rs104895380	Benign/Likely benign	Hyperimmunoglobulin D with periodic fever;not provided;not specified	RCV000083823;RCV000887171;RCV000443187	MedGen;OMIM;Orphanet;SNOMED CT	C0398691;260920;ORPHA343;234538002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895380
Clinvar_Rec_8685	rs515726166	Pathogenic	Neuromuscular disease;Skeletal dysplasia	RCV000202488;RCV000202488	MedGen;Orphanet;MedGen;SNOMED CT	C0027868;ORPHA68381;Human Phenotype Ontology;C0410528;105986008	no assertion criteria provided	tagSNP	rs515726166
Clinvar_Rec_8686	rs267607147	Pathogenic	Metatrophic dysplasia	RCV000005298	MedGen;OMIM;Orphanet;SNOMED CT	C0265281;156530;ORPHA2635;22764001	no assertion criteria provided	tagSNP	rs267607147
Clinvar_Rec_8687	rs267607147	Pathogenic	Metatrophic dysplasia;Skeletal dysplasia	RCV000005299;RCV000202484	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;SNOMED CT	C0265281;156530;ORPHA2635;22764001;Human Phenotype Ontology;C0410528;105986008	no assertion criteria provided	tagSNP	rs267607147
Clinvar_Rec_8688	rs141295418	Benign/Likely benign	Brachyolmia;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia;not provided;not specified	RCV000304809;RCV000335500;RCV000394464;RCV000394470;RCV000281750;RCV000339927;RCV000553583;RCV000235436	MedGen;Orphanet;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0432228;ORPHA1293;MedGen;ORPHA64746;MedGen;600175;ORPHA1216;MedGen;156530;ORPHA2635;22764001;MedGen;181405;ORPHA431255;230248006;Human Phenotype Ontology;C0700635;184250;ORPHA93346;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141295418
Clinvar_Rec_8689	rs1565868973	Pathogenic	Metatrophic dysplasia	RCV000735909	MedGen;OMIM;Orphanet;SNOMED CT	C0265281;156530;ORPHA2635;22764001	no assertion criteria provided	tagSNP	rs1565868973
Clinvar_Rec_8690	rs202084699	Likely benign	Brachyolmia;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia	RCV000395060;RCV000361170;RCV000306435;RCV000395071;RCV000346866;RCV000302954	MedGen;Orphanet;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0432228;ORPHA1293;MedGen;ORPHA64746;MedGen;600175;ORPHA1216;MedGen;156530;ORPHA2635;22764001;MedGen;181405;ORPHA431255;230248006;Human Phenotype Ontology;C0700635;184250;ORPHA93346	criteria provided, single submitter	tagSNP	rs202084699
Clinvar_Rec_8691	rs56217500	Benign/Likely benign	Brachyolmia;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia;not provided;not specified	RCV000281019;RCV000284913;RCV000336022;RCV000402631;RCV000339943;RCV000375941;RCV000200197;RCV000430273	MedGen;Orphanet;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0432228;ORPHA1293;MedGen;ORPHA64746;MedGen;600175;ORPHA1216;MedGen;156530;ORPHA2635;22764001;MedGen;181405;ORPHA431255;230248006;Human Phenotype Ontology;C0700635;184250;ORPHA93346;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56217500
Clinvar_Rec_8692	rs1555144911	Pathogenic	Thrombocytopenia 5	RCV000502350	MedGen;OMIM	C4015537;616216	criteria provided, single submitter	tagSNP	rs1555144911
Clinvar_Rec_8693	rs724159947	Pathogenic/Likely pathogenic	Hematologic neoplasm;Thrombocytopenia;Thrombocytopenia 5	RCV000149804;RCV000149804;RCV000157611	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;MedGen;OMIM	HP;D019337;C0376545;129154003;Human Phenotype Ontology;C0040034;MedGen;616216	no assertion criteria provided	tagSNP	rs724159947
Clinvar_Rec_8694	rs764525	Benign/Likely benign	Epileptic encephalopathy, early infantile, 27;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Mental retardation, autosomal dominant 6;not provided;not specified	RCV000471775;RCV000716015;RCV000328018;RCV000471775;RCV000084722;RCV000117201	MedGen;OMIM;OMIM	C4015316;616139;MedGen;613970;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1805246
Clinvar_Rec_8695	rs374746622	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Inborn genetic diseases;not provided	RCV000719790;RCV000622762;RCV000412734	MedGen;MedGen	C2711754;MeSH;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs374746622
Clinvar_Rec_8696	rs138771137	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000717115;RCV000467185;RCV000187707	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138771137
Clinvar_Rec_8697	rs200609066	Likely benign	History of neurodevelopmental disorder	RCV000716006	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs200609066
Clinvar_Rec_8698	rs886049101	Uncertain significance	Intellectual Disability, Dominant	RCV000307473	MedGen	CN239282	criteria provided, single submitter	tagSNP	rs886049101
Clinvar_Rec_8699	rs547507161	Likely benign	History of neurodevelopmental disorder	RCV000718395	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs547507161
Clinvar_Rec_8700	rs771565713	Likely benign	Epileptic encephalopathy, early infantile, 27;History of neurodevelopmental disorder;Mental retardation, autosomal dominant 6	RCV000472747;RCV000718898;RCV000472747	MedGen;OMIM;OMIM	C4015316;616139;MedGen;613970	criteria provided, multiple submitters, no conflicts	tagSNP	rs771565713
Clinvar_Rec_8701	rs1806201	Benign/Likely benign	History of neurodevelopmental disorder;Intellectual Disability, Dominant;not provided;not specified	RCV000715260;RCV000377659;RCV000084728;RCV000117194	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1806201
Clinvar_Rec_8702	rs1060503161	Uncertain significance	Epileptic encephalopathy, early infantile, 27;Mental retardation, autosomal dominant 6	RCV000464545;RCV000464545	MedGen;OMIM;OMIM	C4015316;616139;MedGen;613970	criteria provided, single submitter	tagSNP	rs1060503161
Clinvar_Rec_8703	rs148550709	Benign/Likely benign	Keratosis follicularis;not provided	RCV000357731;RCV000902604	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148550709
Clinvar_Rec_8704	rs755494363	Uncertain significance	Keratosis follicularis	RCV000318715	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009	criteria provided, single submitter	tagSNP	rs755494363
Clinvar_Rec_8705	rs77458452	Benign/Likely benign	Keratosis follicularis;not specified	RCV000279704;RCV000434109	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201929640
Clinvar_Rec_8706	rs77458452	Benign/Likely benign	Keratosis follicularis;not provided;not specified	RCV000369188;RCV000891749;RCV000424919	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55984131
Clinvar_Rec_8707	rs77458452	Likely benign	Keratosis follicularis	RCV000330937	MedGen;OMIM;Orphanet;SNOMED CT	C0022595;124200;ORPHA218;48611009	criteria provided, single submitter	LD derived	rs75547854
Clinvar_Rec_8708	rs77458452	Benign/Likely benign	Joubert syndrome;not provided;not specified	RCV000334707;RCV000513867;RCV000147734	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs76843552
Clinvar_Rec_8709	rs77458452	Conflicting interpretations of pathogenicity	Joubert syndrome;not provided;not specified	RCV000271091;RCV000515106;RCV000079449	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	LD derived	rs75714509
Clinvar_Rec_8710	rs121913658	Pathogenic	Familial hypertrophic cardiomyopathy 10	RCV000015110	MedGen;OMIM	C1834460;608758	no assertion criteria provided	tagSNP	rs121913658
Clinvar_Rec_8711	rs377496292	Uncertain significance	Metachondromatosis;Noonan syndrome;Noonan syndrome with multiple lentigines	RCV000266082;RCV000365349;RCV000310699	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet	C0410530;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA500	criteria provided, single submitter	tagSNP	rs377496292
Clinvar_Rec_8712	rs886048967	Conflicting interpretations of pathogenicity	Metachondromatosis;Noonan syndrome;Noonan syndrome with multiple lentigines;not specified	RCV000276544;RCV000315032;RCV000362740;RCV000486749	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet	C0410530;156250;ORPHA2499;205481009;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA500;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886048967
Clinvar_Rec_8713	rs377649723	Pathogenic	Holt-Oram syndrome	RCV000782314	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	no assertion criteria provided	tagSNP	rs377649723
Clinvar_Rec_8714	rs759766836	Uncertain significance	Aortic valve disease 2;Cardiovascular phenotype	RCV001041529;RCV000621173	MedGen;OMIM	C3542024;614823;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759766836
Clinvar_Rec_8715	rs139371720	Uncertain significance	Aortic valve disease 2	RCV000457110	MedGen;OMIM	C3542024;614823	criteria provided, single submitter	tagSNP	rs139371720
Clinvar_Rec_8716	rs79465718	Benign	Holt-Oram syndrome	RCV000406465	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs79465718
Clinvar_Rec_8717	rs1565929080	Likely pathogenic	Distal hereditary motor neuronopathy type 2A	RCV000678500	MedGen;OMIM	C1834692;158590	criteria provided, single submitter	tagSNP	rs1565929080
Clinvar_Rec_8718	rs9204	Benign	Deficiency of butyryl-CoA dehydrogenase	RCV000280186	MedGen;OMIM;Orphanet;SNOMED CT	C0342783;201470;ORPHA26792;124166007	criteria provided, single submitter	tagSNP	rs9204
Clinvar_Rec_8719	rs544409022	Conflicting interpretations of pathogenicity	Deficiency of butyryl-CoA dehydrogenase;not provided	RCV000635334;RCV000443456	MedGen;OMIM;Orphanet;SNOMED CT	C0342783;201470;ORPHA26792;124166007;MedGen	criteria provided, conflicting interpretations	LD derived	rs539219309
Clinvar_Rec_8720	rs193922583	Likely benign	Maturity-onset diabetes of the young, type 3	RCV000030484	MedGen;OMIM	C1838100;600496	criteria provided, single submitter	tagSNP	rs193922583
Clinvar_Rec_8721	rs776710848	Uncertain significance	Monogenic diabetes	RCV000664140	MedGen;Orphanet	C3888631;ORPHA183625	criteria provided, single submitter	tagSNP	rs776710848
Clinvar_Rec_8722	rs193922600	Likely pathogenic	Maturity-onset diabetes of the young, type 3	RCV000030507	MedGen;OMIM	C1838100;600496	criteria provided, single submitter	tagSNP	rs193922600
Clinvar_Rec_8723	rs1565885935	Pathogenic	Maturity-onset diabetes of the young, type 3	RCV000709725	MedGen;OMIM	C1838100;600496	criteria provided, single submitter	tagSNP	rs1565885935
Clinvar_Rec_8724	rs140491072	Conflicting interpretations of pathogenicity	Maturity-onset diabetes of the young, type 3;Monogenic diabetes;not provided;not specified	RCV000030516;RCV000445387;RCV000993275;RCV000121196	MedGen;OMIM;Orphanet	C1838100;600496;MedGen;ORPHA183625;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140491072
Clinvar_Rec_8725	rs568653423	Uncertain significance	Maturity onset diabetes mellitus in young	RCV000357347	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs568653423
Clinvar_Rec_8726	rs76753792	Benign	Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2;not specified	RCV000553470;RCV000553470;RCV000439937	MedGen;OMIM;Orphanet;OMIM	C2748568;612782;ORPHA317428;MedGen;615883;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3741596
Clinvar_Rec_8727	rs76753792	Benign	Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2;not specified	RCV000541904;RCV000541904;RCV000422728	MedGen;OMIM;Orphanet;OMIM	C2748568;612782;ORPHA317428;MedGen;615883;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3741597
Clinvar_Rec_8728	rs76753792	Benign	Combined immunodeficiency due to ORAI1 deficiency;Myopathy, tubular aggregate, 2;not specified	RCV000553802;RCV000553802;RCV000433427	MedGen;OMIM;Orphanet;OMIM	C2748568;612782;ORPHA317428;MedGen;615883;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3825174
Clinvar_Rec_8729	rs137852866	Pathogenic	Tyrosinemia type 3	RCV000001640	MedGen;OMIM;Orphanet;SNOMED CT	C0268623;276710;ORPHA69723;413356003	no assertion criteria provided	tagSNP	rs137852866
Clinvar_Rec_8730	rs143802431	Conflicting interpretations of pathogenicity	Cutis laxa with osteodystrophy;Cutis laxa, recessive;Wrinkly skin syndrome;not provided;not specified	RCV000763803;RCV000310903;RCV000763803;RCV000872211;RCV000493630	MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268355;219200;73856006;MedGen;278250;ORPHA2834;238875009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143802431
Clinvar_Rec_8731	rs747772644	Uncertain significance	Cutis laxa, recessive	RCV000262548	MedGen	C2931134	criteria provided, single submitter	tagSNP	rs747772644
Clinvar_Rec_8732	rs145700433	Benign/Likely benign	Colorectal cancer, susceptibility to, 12;not specified	RCV000411975;RCV000426963	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs150195182
Clinvar_Rec_8733	rs145700433	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000572802;RCV000759273;RCV000444253	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs5744801
Clinvar_Rec_8734	rs1555301175	Likely benign	Hereditary cancer-predisposing syndrome	RCV000568812	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555301175
Clinvar_Rec_8735	rs1555301177	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000532145	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555301177
Clinvar_Rec_8736	rs774417192	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided	RCV000469022;RCV000570450;RCV000679665	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774417192
Clinvar_Rec_8737	rs375256819	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000650965	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs375256819
Clinvar_Rec_8738	rs375256819	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573878;RCV000228835;RCV000616740	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375256819
Clinvar_Rec_8739	rs114778730	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000575910;RCV000679664;RCV000441976	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114778730
Clinvar_Rec_8740	rs369549727	Uncertain significance	Colorectal cancer, susceptibility to, 12;not specified	RCV000227104;RCV000826022	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369549727
Clinvar_Rec_8741	rs1057517583	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000412098	MedGen;OMIM	C3554460;615083	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057517583
Clinvar_Rec_8742	rs1057517583	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000698329	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1057517583
Clinvar_Rec_8743	rs1449742140	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000528420	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1449742140
Clinvar_Rec_8744	rs1365206650	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000556161	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1365206650
Clinvar_Rec_8745	rs774425403	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000568706;RCV000487049	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs774425403
Clinvar_Rec_8746	rs774425403	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000227240	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs774425403
Clinvar_Rec_8747	rs1329248039	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000541165	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1329248039
Clinvar_Rec_8748	rs1555222702	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000526443	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555222702
Clinvar_Rec_8749	rs768741587	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000547891	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs768741587
Clinvar_Rec_8750	rs767021717	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574245;RCV000650956	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767021717
Clinvar_Rec_8751	rs1318993810	Likely benign	Hereditary cancer-predisposing syndrome	RCV000563103	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1318993810
Clinvar_Rec_8752	rs1555222708	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome	RCV000650830;RCV001022848	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555222708
Clinvar_Rec_8753	rs750079093	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000696332	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs750079093
Clinvar_Rec_8754	rs1004972253	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000542248	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1004972253
Clinvar_Rec_8755	rs1004972253	Likely benign	Hereditary cancer-predisposing syndrome	RCV000567554	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1004972253
Clinvar_Rec_8756	rs577952179	Uncertain significance	Colorectal cancer, susceptibility to, 12;not provided	RCV000527228;RCV000985982	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs577952179
Clinvar_Rec_8757	rs577952179	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650910	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs577952179
Clinvar_Rec_8758	rs147500308	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000466401	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs147500308
Clinvar_Rec_8759	rs147500308	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000548984	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs147500308
Clinvar_Rec_8760	rs147500308	Benign/Likely benign	Colorectal cancer, susceptibility to, 12;not provided;not specified	RCV000988933;RCV000760015;RCV000507787	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147500308
Clinvar_Rec_8761	rs1555222721	Likely benign	Colorectal cancer, susceptibility to, 12;not specified	RCV000651005;RCV000606418	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555222721
Clinvar_Rec_8762	rs1555222988	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000559619	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555222988
Clinvar_Rec_8763	rs1555223081	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000546512	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555223081
Clinvar_Rec_8764	rs1233033042	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650943	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1233033042
Clinvar_Rec_8765	rs1060500845	Uncertain significance	Colorectal cancer, susceptibility to, 12;not provided	RCV000469130;RCV000788987	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060500845
Clinvar_Rec_8766	rs1452685600	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000698384	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1452685600
Clinvar_Rec_8767	rs761011442	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000474885	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs761011442
Clinvar_Rec_8768	rs1555223097	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000554025	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555223097
Clinvar_Rec_8769	rs1323151304	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650938	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1323151304
Clinvar_Rec_8770	rs5744935	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000528043	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs5744935
Clinvar_Rec_8771	rs5744935	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000692883	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs5744935
Clinvar_Rec_8772	rs878854868	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000229876	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs878854868
Clinvar_Rec_8773	rs1555223871	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650732	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555223871
Clinvar_Rec_8774	rs1431438300	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000702889	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1431438300
Clinvar_Rec_8775	rs1555225201	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided	RCV000650741;RCV000566594;RCV000657838	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555225201
Clinvar_Rec_8776	rs762838377	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000574892;RCV000459941;RCV000424042	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762838377
Clinvar_Rec_8777	rs531475854	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000462771	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs531475854
Clinvar_Rec_8778	rs371357642	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000568045;RCV000826932	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371357642
Clinvar_Rec_8779	rs948001596	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000465338	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs948001596
Clinvar_Rec_8780	rs142196181	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000700434	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs142196181
Clinvar_Rec_8781	rs1555228601	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome	RCV000702053;RCV000565800	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555228601
Clinvar_Rec_8782	rs745411507	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569056;RCV000870912	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745411507
Clinvar_Rec_8783	rs749415346	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564478	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs749415346
Clinvar_Rec_8784	rs1555229220	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV000569570;RCV000613178	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555229220
Clinvar_Rec_8785	rs1060500784	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000474655	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1060500784
Clinvar_Rec_8786	rs376923206	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000562950;RCV000231047;RCV000430205	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376923206
Clinvar_Rec_8787	rs1555229694	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000461076	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555229694
Clinvar_Rec_8788	rs767503360	Conflicting interpretations of pathogenicity	Colorectal cancer, susceptibility to, 12	RCV000706790	MedGen;OMIM	C3554460;615083	criteria provided, conflicting interpretations	tagSNP	rs767503360
Clinvar_Rec_8789	rs755607944	Uncertain significance	Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome	RCV000456741;RCV000561884	MedGen;OMIM;Orphanet;SNOMED CT	C3554460;615083;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs755607944
Clinvar_Rec_8790	rs1060500824	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000460843	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1060500824
Clinvar_Rec_8791	rs1555229709	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000570648;RCV000936217	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555229709
Clinvar_Rec_8792	rs1064796126	Uncertain significance	Colorectal cancer, susceptibility to, 12;not provided	RCV000540872;RCV000486947	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064796126
Clinvar_Rec_8793	rs1328407908	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000679004;RCV000679624	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1328407908
Clinvar_Rec_8794	rs60571683	Benign/Likely benign	Rotor syndrome;not specified	RCV000300209;RCV000506713	MedGen;OMIM;Orphanet;SNOMED CT	C0220991;237450;ORPHA3111;32891000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs60571683
Clinvar_Rec_8795	rs767441371	Uncertain significance	Glycogen storage disease due to hepatic glycogen synthase deficiency	RCV000370418	MedGen;OMIM;Orphanet	C1855861;240600;ORPHA2089	criteria provided, single submitter	tagSNP	rs767441371
Clinvar_Rec_8796	rs539369206	Uncertain significance	Inborn genetic diseases	RCV000622813	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs539369206
Clinvar_Rec_8797	rs749697322	Uncertain significance	Cardiovascular phenotype	RCV000620006	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs749697322
Clinvar_Rec_8798	rs1060504811	Likely benign	Dilated cardiomyopathy 1O	RCV000461598	MedGen;OMIM	C1837839;608569	criteria provided, single submitter	tagSNP	rs1060504811
Clinvar_Rec_8799	rs1565687632	Uncertain significance	Dilated cardiomyopathy 1O	RCV000689738	MedGen;OMIM	C1837839;608569	criteria provided, single submitter	tagSNP	rs1565687632
Clinvar_Rec_8800	rs387907229	Pathogenic	Hypertrichotic osteochondrodysplasia Cantu type	RCV000029190	MedGen;OMIM;Orphanet	C0795905;239850;ORPHA1517	no assertion criteria provided	tagSNP	rs387907229
Clinvar_Rec_8801	rs1290109600	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided	RCV000769378;RCV000868317	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1290109600
Clinvar_Rec_8802	rs150255709	Uncertain significance	Dilated cardiomyopathy 1O	RCV000539425	MedGen;OMIM	C1837839;608569	criteria provided, single submitter	tagSNP	rs150255709
Clinvar_Rec_8803	rs397517184	Uncertain significance	Dilated cardiomyopathy 1O;not provided;not specified	RCV000792599;RCV000766938;RCV000038586	MedGen;OMIM	C1837839;608569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517184
Clinvar_Rec_8804	rs61764366	Likely benign	Cardio-facio-cutaneous syndrome;Noonan syndrome	RCV000296182;RCV000351046	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1275081;ORPHA1340;403770008;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs61764366
Clinvar_Rec_8805	rs61764366	Likely benign	Cardio-facio-cutaneous syndrome;Noonan syndrome	RCV000264327;RCV000359373	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1275081;ORPHA1340;403770008;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	LD derived	rs535478558
Clinvar_Rec_8806	rs144980336	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000276768	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs144980336
Clinvar_Rec_8807	rs144980336	Uncertain significance	Charcot-Marie-Tooth disease type 4;not provided	RCV000654106;RCV000236923	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144980336
Clinvar_Rec_8808	rs145071617	Uncertain significance	Charcot-Marie-Tooth disease type 4;not provided	RCV000236221;RCV000235513	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145071617
Clinvar_Rec_8809	rs751035912	Pathogenic	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 4;not provided	RCV000789112;RCV001047299;RCV000484688	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751035912
Clinvar_Rec_8810	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000405789	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs73083501
Clinvar_Rec_8811	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000402828	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs56110646
Clinvar_Rec_8812	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000272086	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs4931030
Clinvar_Rec_8813	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000386428	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs4931031
Clinvar_Rec_8814	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000354721	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs73087441
Clinvar_Rec_8815	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000259808	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs73087441
Clinvar_Rec_8816	rs4575368	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000356483	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs144034303
Clinvar_Rec_8817	rs886049269	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000384661	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs886049269
Clinvar_Rec_8818	rs1353074803	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 9;not provided	RCV000541578;RCV000786186	MedGen;OMIM	C1836906;609040;MedGen	criteria provided, single submitter	tagSNP	rs1353074803
Clinvar_Rec_8819	rs377504106	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified	RCV000527316;RCV000219770	MedGen;OMIM	C1836906;609040;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377504106
Clinvar_Rec_8820	rs1565581687	Uncertain significance	Cardiomyopathy	RCV000770411	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1565581687
Clinvar_Rec_8821	rs866789949	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 9;not specified	RCV000466047;RCV000214919	MedGen;OMIM	C1836906;609040;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs866789949
Clinvar_Rec_8822	rs1439169005	Likely benign	Cardiovascular phenotype;not provided	RCV000618298;RCV000869884	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1439169005
Clinvar_Rec_8823	rs763492084	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000309420	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs763492084
Clinvar_Rec_8824	rs143004808	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Hypertrophic cardiomyopathy;not provided;not specified	RCV000148725;RCV000472012;RCV000776026;RCV000852680;RCV000246635;RCV000852680;RCV000428217;RCV000038225	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;609040;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143004808
Clinvar_Rec_8825	rs759214983	Likely benign	Cardiomyopathy;not provided	RCV000771861;RCV000556504	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759214983
Clinvar_Rec_8826	rs759214983	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 9	RCV000640001	MedGen;OMIM	C1836906;609040	criteria provided, single submitter	tagSNP	rs759214983
Clinvar_Rec_8827	rs565997897	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000329635	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs565997897
Clinvar_Rec_8828	rs78806233	Benign/Likely benign	Congenital fibrosis of the extraocular muscles;not provided	RCV000275294;RCV000885359	MedGen	CN043677;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs78806233
Clinvar_Rec_8829	rs79996249	Uncertain significance	Parkinson disease 8, autosomal dominant	RCV000032412	MedGen;OMIM	C1846862;607060	no assertion criteria provided	tagSNP	rs79996249
Clinvar_Rec_8830	rs1060499538	Uncertain significance	Parkinson disease 8, autosomal dominant	RCV000225672	MedGen;OMIM	C1846862;607060	no assertion criteria provided	tagSNP	rs1060499538
Clinvar_Rec_8831	rs145879945	Benign/Likely benign	Parkinson disease 8, autosomal dominant;not provided	RCV000032477;RCV000873709	MedGen;OMIM	C1846862;607060;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79909111
Clinvar_Rec_8832	rs145879945	Likely benign	Parkinson disease 8, autosomal dominant	RCV000381790	MedGen;OMIM	C1846862;607060	criteria provided, single submitter	LD derived	rs147956597
Clinvar_Rec_8833	rs561077363	Benign/Likely benign	Parkinson disease 8, autosomal dominant;not provided	RCV000032477;RCV000873709	MedGen;OMIM	C1846862;607060;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79909111
Clinvar_Rec_8834	rs561077363	Likely benign	Parkinson disease 8, autosomal dominant	RCV000381790	MedGen;OMIM	C1846862;607060	criteria provided, single submitter	LD derived	rs147956597
Clinvar_Rec_8835	rs138524511	Likely benign	Progressive myoclonus epilepsy with ataxia;not provided	RCV000471128;RCV000828448	MedGen;OMIM	C2676254;612437;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138524511
Clinvar_Rec_8836	rs1361958779	Uncertain significance	Seizures	RCV000720524	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1361958779
Clinvar_Rec_8837	rs1566087431	Uncertain significance	Progressive myoclonus epilepsy with ataxia	RCV000694485	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs1566087431
Clinvar_Rec_8838	rs548377394	Uncertain significance	Progressive myoclonus epilepsy with ataxia	RCV000328207	MedGen;OMIM	C2676254;612437	criteria provided, single submitter	tagSNP	rs548377394
Clinvar_Rec_8839	rs755772831	Uncertain significance	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	RCV000692741	MedGen;OMIM;Orphanet	C1843256;607676;ORPHA70592	criteria provided, single submitter	tagSNP	rs755772831
Clinvar_Rec_8840	rs1555155263	Pathogenic	Inborn genetic diseases	RCV000622277	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555155263
Clinvar_Rec_8841	rs1565618291	Uncertain significance	Vitamin D-dependent rickets, type 2	RCV000785886	MedGen;OMIM;SNOMED CT	C0342646;277440;72831007	criteria provided, single submitter	tagSNP	rs1565618291
Clinvar_Rec_8842	rs138718965	Conflicting interpretations of pathogenicity	Glycogen storage disease, type VII;not specified	RCV000306016;RCV000436777	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008;MedGen	criteria provided, conflicting interpretations	LD derived	rs202008060
Clinvar_Rec_8843	rs41291981	Benign	Ciliary dyskinesia, primary, 27;not specified	RCV000465395;RCV000243714	MedGen;OMIM	C3809701;615504;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79716342
Clinvar_Rec_8844	rs41291981	Benign	Ciliary dyskinesia, primary, 27;not specified	RCV000456820;RCV000248454	MedGen;OMIM	C3809701;615504;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78877829
Clinvar_Rec_8845	rs387907355	Pathogenic	Osteogenesis imperfecta, type xv	RCV000043494	MedGen;OMIM	C3808844;615220	no assertion criteria provided	tagSNP	rs387907355
Clinvar_Rec_8846	rs2293447	Conflicting interpretations of pathogenicity	Kabuki syndrome;Kabuki syndrome 1	RCV000354724;RCV000146229	MedGen;Orphanet;SNOMED CT;OMIM	C0796004;ORPHA2322;313426007;MedGen;147920	criteria provided, conflicting interpretations	LD derived	rs3741625
Clinvar_Rec_8847	rs7975791	Likely benign	Kabuki syndrome	RCV000302791	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs7975791
Clinvar_Rec_8848	rs886049462	Uncertain significance	Kabuki syndrome	RCV000274833	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs886049462
Clinvar_Rec_8849	rs751383638	Uncertain significance	Kabuki syndrome	RCV000362947	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, single submitter	tagSNP	rs751383638
Clinvar_Rec_8850	rs398123747	Conflicting interpretations of pathogenicity	Kabuki syndrome;not provided	RCV000539363;RCV000080183	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398123747
Clinvar_Rec_8851	rs1057519422	Pathogenic	Kabuki syndrome 1	RCV000417038	MedGen;OMIM	CN030661;147920	no assertion criteria provided	tagSNP	rs1057519422
Clinvar_Rec_8852	rs145466782	Uncertain significance	46,XY DSD/46,XY CGD	RCV000341807	MedGen	CN239172	criteria provided, single submitter	tagSNP	rs145466782
Clinvar_Rec_8853	rs144058282	Benign/Likely benign	Kabuki syndrome;not provided;not specified	RCV000369004;RCV000859429;RCV000176933	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs186577948
Clinvar_Rec_8854	rs543476065	Likely pathogenic	Nephronophthisis	RCV000662275	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008	no assertion criteria provided	LD derived	rs549662742
Clinvar_Rec_8855	rs139064235	Uncertain significance	Nephrogenic diabetes insipidus	RCV000287207	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007	criteria provided, single submitter	tagSNP	rs139064235
Clinvar_Rec_8856	rs296768	Benign	Nephrogenic diabetes insipidus	RCV000400331	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007	criteria provided, single submitter	tagSNP	rs296768
Clinvar_Rec_8857	rs767728184	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10;not provided	RCV000685299;RCV000713827	MedGen;OMIM	C3554381;615041;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767728184
Clinvar_Rec_8858	rs1565825132	Likely pathogenic	Corticobasal syndrome;Primary progressive non fluent aphasia	RCV000768401;RCV000768401	MedGen;Orphanet;Orphanet	CN237765;ORPHA454887;MedGen;ORPHA100070	no assertion criteria provided	tagSNP	rs1565825132
Clinvar_Rec_8859	rs483352899	Pathogenic	Mucopolysaccharidosis, MPS-III-D	RCV000003069	MedGen;OMIM;Orphanet;SNOMED CT	C0086650;252940;ORPHA79272;15892005	no assertion criteria provided	tagSNP	rs483352899
Clinvar_Rec_8860	rs372970620	Uncertain significance	Fraser syndrome 1	RCV000263545	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs372970620
Clinvar_Rec_8861	rs397514486	Pathogenic	FRASER SYNDROME 3	RCV000030649	MedGen;OMIM	C4540040;617667	no assertion criteria provided	tagSNP	rs397514486
Clinvar_Rec_8862	rs540692954	Uncertain significance	Tryptophan 5-monooxygenase deficiency	RCV000283194	MedGen	CN120491	criteria provided, single submitter	tagSNP	rs540692954
Clinvar_Rec_8863	rs578239628	Uncertain significance	Centronuclear Myopathy, Dominant	RCV000316649	MedGen	CN239281	criteria provided, single submitter	tagSNP	rs578239628
Clinvar_Rec_8864	rs548916530	Uncertain significance	Bardet-Biedl syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia	RCV000279985;RCV000346206;RCV000396741;RCV000342001;RCV000303135	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MeSH;C0339527;ORPHA65;193413001;MedGen;ORPHA564;29076005;MedGen;ORPHA3156;236531005	criteria provided, single submitter	LD derived	rs528270888
Clinvar_Rec_8865	rs794727762	Uncertain significance	Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided	RCV000804418;RCV000804418;RCV000804418;RCV000179154	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;Human Phenotype Ontology;C0687120;ORPHA655;204958008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727762
Clinvar_Rec_8866	rs181121175	Conflicting interpretations of pathogenicity	Bardet-Biedl syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;not provided	RCV000291084;RCV000288370;RCV000400374;RCV000345714;RCV000389733;RCV000548918	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MeSH;C0339527;ORPHA65;193413001;MedGen;ORPHA564;29076005;MedGen;ORPHA3156;236531005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs181121175
Clinvar_Rec_8867	rs1057518822	Pathogenic	Blindness;Central hypotonia;Molar tooth sign on MRI;Nystagmus	RCV000415004;RCV000414899;RCV000414899;RCV000414899	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen	HP;C0456909;Human Phenotype Ontology;C1842364;Human Phenotype Ontology;C1865060;Human Phenotype Ontology;C0028738	criteria provided, single submitter	tagSNP	rs1057518822
Clinvar_Rec_8868	rs62635288	Pathogenic	Joubert syndrome 5;Leber congenital amaurosis;not provided	RCV000001398;RCV000505111;RCV000086283	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C1857780;610188;MeSH;C0339527;ORPHA65;193413001;MedGen	criteria provided, single submitter	tagSNP	rs62635288
Clinvar_Rec_8869	rs121917860	Pathogenic	Cornea plana 2	RCV000006893	MedGen;OMIM	C1857574;217300	no assertion criteria provided	tagSNP	rs121917860
Clinvar_Rec_8870	rs199864506	Uncertain significance	Histidinemia	RCV000282499	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0220992;235800;ORPHA2157;124628005;410058007	criteria provided, single submitter	LD derived	rs537728013
Clinvar_Rec_8871	rs117991621	Conflicting interpretations of pathogenicity	Histidinemia;not provided	RCV000295732;RCV000954736	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0220992;235800;ORPHA2157;124628005;410058007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs117991621
Clinvar_Rec_8872	rs200786329	Conflicting interpretations of pathogenicity	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Hemorrhage, intracerebral, susceptibility to;not provided	RCV000989165;RCV000033090;RCV000710795	MedGen;OMIM;Orphanet;OMIM	C2673195;611773;ORPHA73229;MedGen;614519;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200786329
Clinvar_Rec_8873	rs74124319	Benign	Acquired porencephaly;not provided	RCV000340405;RCV000947546	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs74124319
Clinvar_Rec_8874	rs1555330577	Uncertain significance	Vasculitis	RCV000626812	Human Phenotype Ontology;MedGen;Orphanet	HP;C0042384;ORPHA52759	criteria provided, single submitter	tagSNP	rs1555330577
Clinvar_Rec_8875	rs886049975	Uncertain significance	Acquired porencephaly	RCV000331873	Human Phenotype Ontology;MedGen;Orphanet	HP;C4082172;ORPHA314697	criteria provided, single submitter	tagSNP	rs886049975
Clinvar_Rec_8876	rs773231493	Uncertain significance	Combined oxidative phosphorylation deficiency 27	RCV000530744	MedGen;OMIM;Orphanet	C4225251;616672;ORPHA477774	criteria provided, single submitter	tagSNP	rs773231493
Clinvar_Rec_8877	rs3093257	Likely benign	Factor VII deficiency;Factor X deficiency	RCV000320294;RCV000268240	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0015503;227500;ORPHA327;37193007;MedGen;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs3093257
Clinvar_Rec_8878	rs3212994	Likely benign	Factor VII deficiency;Factor X deficiency	RCV000377919;RCV000279453	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0015503;227500;ORPHA327;37193007;MedGen;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs3212994
Clinvar_Rec_8879	rs149972574	Uncertain significance	Factor X deficiency	RCV000351469	MedGen;OMIM;Orphanet;SNOMED CT	C0015519;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs149972574
Clinvar_Rec_8880	rs5962	Benign/Likely benign	Factor X deficiency;not provided	RCV000270472;RCV000968270	MedGen;OMIM;Orphanet;SNOMED CT	C0015519;227600;ORPHA328;76642003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5962
Clinvar_Rec_8881	rs140852978	Uncertain significance	Factor X deficiency	RCV000265096	MedGen;OMIM;Orphanet;SNOMED CT	C0015519;227600;ORPHA328;76642003	criteria provided, single submitter	tagSNP	rs140852978
Clinvar_Rec_8882	rs777094000	Pathogenic	Oguchi disease 2	RCV000013884	MedGen;OMIM	C3150678;613411	no assertion criteria provided	tagSNP	rs777094000
Clinvar_Rec_8883	rs570621429	Pathogenic	Oguchi disease 2	RCV000013886	MedGen;OMIM	C3150678;613411	no assertion criteria provided	tagSNP	rs570621429
Clinvar_Rec_8884	rs144410256	Benign	Zonular Pulverulent Cataract	RCV000289816	MedGen	CN239280	criteria provided, single submitter	tagSNP	rs144410256
Clinvar_Rec_8885	rs34748315	Benign/Likely benign	Symphalangism-brachydactyly syndrome;not provided	RCV000302615;RCV000888303	MedGen;OMIM;SNOMED CT	C0342282;186500;129580008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34748315
Clinvar_Rec_8886	rs61729909	Benign/Likely benign	Primary Microcephaly, Recessive;Seckel syndrome;not specified	RCV000318515;RCV000375516;RCV000145564	MedGen;Orphanet;SNOMED CT	CN239428;MedGen;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61729909
Clinvar_Rec_8887	rs1057519768	Likely pathogenic	Acute myeloid leukemia	RCV000426662	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007	no assertion criteria provided	tagSNP	rs1057519768
Clinvar_Rec_8888	rs1555256794	drug response	sunitinib response - Toxicity/ADR	RCV000660791	-	-	reviewed by expert panel	tagSNP	rs1555256794
Clinvar_Rec_8889	rs80359637	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113090;RCV000509918	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80359637
Clinvar_Rec_8890	rs1566215661	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000757995	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	no assertion criteria provided	tagSNP	rs1566215661
Clinvar_Rec_8891	rs1566215664	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773851	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566215664
Clinvar_Rec_8892	rs397507909	not provided	Familial cancer of breast	RCV000577171	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs397507909
Clinvar_Rec_8893	rs80358961	Uncertain significance	Breast-ovarian cancer, familial 2;not provided	RCV000113091;RCV000482909	MedGen;OMIM	C2675520;612555;MedGen	criteria provided, single submitter	tagSNP	rs80358961
Clinvar_Rec_8894	rs80358961	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257648	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80358961
Clinvar_Rec_8895	rs1566215668	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001026823;RCV000758951	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1566215668
Clinvar_Rec_8896	rs1566215674	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000691360	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566215674
Clinvar_Rec_8897	rs80359722	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000113114;RCV000496650	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80359722
Clinvar_Rec_8898	rs1424422846	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575119	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1424422846
Clinvar_Rec_8899	rs876658407	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000814580;RCV000222478	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658407
Clinvar_Rec_8900	rs1566215685	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000688308	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566215685
Clinvar_Rec_8901	rs397508045	Pathogenic	Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Wilms tumor 1	RCV000241373;RCV000762913;RCV000762913;RCV000762913;RCV000762913;RCV000045785;RCV000762913;RCV000762913;RCV000762913;RCV000762913	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;MedGen;Orphanet;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;OMIM;OMIM	C2675520;612555;MedGen;612555;MedGen;114480;ORPHA227535;254843006;MedGen;605724;ORPHA319462;MedGen;613029;MeSH;C0677776;ORPHA145;Human Phenotype Ontology;C0376358;176807;399068003;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen;613347;MedGen;194070	reviewed by expert panel	tagSNP	rs397508045
Clinvar_Rec_8902	rs397508045	Uncertain significance	Cancer of the pancreas;Hereditary cancer-predisposing syndrome;Neoplasm of the breast	RCV000677825;RCV000573741;RCV000240757	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C0346647;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	criteria provided, multiple submitters, no conflicts	tagSNP	rs397508045
Clinvar_Rec_8903	rs80359214	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000256653;RCV000045810	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80359214
Clinvar_Rec_8904	rs80359214	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000113126;RCV000045811;RCV000565952	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs80359214
Clinvar_Rec_8905	rs80359214	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000529455;RCV000164584	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80359214
Clinvar_Rec_8906	rs1555280339	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581478	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555280339
Clinvar_Rec_8907	rs397508065	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256555	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397508065
Clinvar_Rec_8908	rs80358391	Pathogenic	Breast-ovarian cancer, familial 2;Breast-ovarian cancer, familial 2;Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group D1;Glioma susceptibility 3;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Medulloblastoma;Pancreatic cancer 2;Wilms tumor 1;not provided	RCV000113128;RCV000762914;RCV000043711;RCV000762914;RCV000762914;RCV000762914;RCV000496610;RCV000222288;RCV000762914;RCV000762914;RCV000762914;RCV000762914;RCV000657625	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;OMIM;OMIM	C2675520;612555;MedGen;612555;MedGen;114480;ORPHA227535;254843006;MedGen;114480;ORPHA227535;254843006;MedGen;605724;ORPHA319462;MedGen;613029;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0376358;176807;399068003;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;MedGen;613347;MedGen;194070;MedGen	reviewed by expert panel	tagSNP	rs80358391
Clinvar_Rec_8909	rs762819719	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495546;RCV000222084;RCV000969717;RCV000429037	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs762819719
Clinvar_Rec_8910	rs886040340	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257664	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040340
Clinvar_Rec_8911	rs886040341	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256771	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040341
Clinvar_Rec_8912	rs1555280340	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000661892;RCV000774831	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs1555280340
Clinvar_Rec_8913	rs1555280345	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000572535;RCV000608385	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555280345
Clinvar_Rec_8914	rs398122724	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000077656;RCV000545014;RCV000130510;RCV000160132	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398122724
Clinvar_Rec_8915	rs80358415	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000536237	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs80358415
Clinvar_Rec_8916	rs80358415	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000113156;RCV000043760;RCV000167471	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358415
Clinvar_Rec_8917	rs483353112	Pathogenic	Breast-ovarian cancer, familial 2;not provided	RCV000661431;RCV000478452	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs483353112
Clinvar_Rec_8918	rs786201716	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000988983;RCV000164148;RCV000464038;RCV000600060	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786201716
Clinvar_Rec_8919	rs786201783	Likely benign	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000539875;RCV000564039	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201783
Clinvar_Rec_8920	rs786201783	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000495690;RCV000164251	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786201783
Clinvar_Rec_8921	rs397507581	Pathogenic	Breast-ovarian cancer, familial 2;Familial cancer of breast	RCV000661718;RCV000577322	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397507581
Clinvar_Rec_8922	rs1216148236	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000637767	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1216148236
Clinvar_Rec_8923	rs886040701	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257735	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040701
Clinvar_Rec_8924	rs886040719	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256663	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040719
Clinvar_Rec_8925	rs1555281474	Likely pathogenic	Breast-ovarian cancer, familial 2	RCV000576595	MedGen;OMIM	C2675520;612555	criteria provided, single submitter	tagSNP	rs1555281474
Clinvar_Rec_8926	rs28897706	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000559728	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs28897706
Clinvar_Rec_8927	rs28897706	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000637859	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs28897706
Clinvar_Rec_8928	rs28897706	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000768586;RCV000077475;RCV000354967;RCV000045896;RCV000162581;RCV000148427;RCV000444014;RCV000120308	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	CN221562;MedGen;612555;MedGen;ORPHA84;30575002;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs28897706
Clinvar_Rec_8929	rs28897712	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735527;RCV000113003;RCV000043931;RCV000162572;RCV000034434;RCV000168555	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs28897712
Clinvar_Rec_8930	rs775060172	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000463284	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs775060172
Clinvar_Rec_8931	rs886040399	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256597	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040399
Clinvar_Rec_8932	rs552526845	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637410;RCV000165107	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs552526845
Clinvar_Rec_8933	rs552526845	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077352;RCV000044658;RCV000214539;RCV000589093;RCV000219100	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs80358766
Clinvar_Rec_8934	rs1555282391	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575118	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555282391
Clinvar_Rec_8935	rs144192844	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000239179;RCV000466395;RCV000130109;RCV000586597	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144192844
Clinvar_Rec_8936	rs760593257	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000495566;RCV000562583;RCV000476754	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs760593257
Clinvar_Rec_8937	rs397507635	Pathogenic	Breast-ovarian cancer, familial 2;Familial cancer of breast	RCV000661630;RCV000577712	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397507635
Clinvar_Rec_8938	rs397507290	Pathogenic	Breast-ovarian cancer, familial 2	RCV000031376	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397507290
Clinvar_Rec_8939	rs398122749	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000077688;RCV000546856;RCV001016115	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs398122749
Clinvar_Rec_8940	rs886038076	Pathogenic	Breast-ovarian cancer, familial 2	RCV000241477	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886038076
Clinvar_Rec_8941	rs765618026	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000697478	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs765618026
Clinvar_Rec_8942	rs765618026	Uncertain significance	Hereditary breast and ovarian cancer syndrome;not specified	RCV001064636;RCV000781117	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765618026
Clinvar_Rec_8943	rs876658648	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000256675;RCV000213781	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs876658648
Clinvar_Rec_8944	rs1555282764	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000585662	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555282764
Clinvar_Rec_8945	rs886038221	Likely benign	Breast-ovarian cancer, familial 2;not specified	RCV000495234;RCV000248883	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs886038221
Clinvar_Rec_8946	rs398122750	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000077689	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs398122750
Clinvar_Rec_8947	rs756951335	Uncertain significance	Cancer of the pancreas;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000677822;RCV000198310;RCV000575746	MedGen;MedGen;Orphanet;Orphanet;SNOMED CT	C0346647;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756951335
Clinvar_Rec_8948	rs879255446	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000238915	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs879255446
Clinvar_Rec_8949	rs886040452	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257319	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040452
Clinvar_Rec_8950	rs80358539	Likely benign	Breast-ovarian cancer, familial 2	RCV000495010	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80358539
Clinvar_Rec_8951	rs80358539	Uncertain significance	Breast-ovarian cancer, familial 2	RCV000113111	MedGen;OMIM	C2675520;612555	no assertion criteria provided	tagSNP	rs80358539
Clinvar_Rec_8952	rs886040471	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257475	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040471
Clinvar_Rec_8953	rs1555283184	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661618	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555283184
Clinvar_Rec_8954	rs1204868565	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001038261;RCV000567148	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1204868565
Clinvar_Rec_8955	rs730882134	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000161943	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	no assertion criteria provided	tagSNP	rs730882134
Clinvar_Rec_8956	rs397507664	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257058	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397507664
Clinvar_Rec_8957	rs1555283197	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV001020098;RCV000657429	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555283197
Clinvar_Rec_8958	rs397507665	Pathogenic	Breast-ovarian cancer, familial 2;Familial cancer of breast	RCV000661608;RCV000576983	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397507665
Clinvar_Rec_8959	rs765444423	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661697	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs765444423
Clinvar_Rec_8960	rs863224827	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000240973;RCV000199893;RCV000575412	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs863224827
Clinvar_Rec_8961	rs876661035	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000562611;RCV000220979	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661035
Clinvar_Rec_8962	rs876658560	Likely benign	Hereditary cancer-predisposing syndrome	RCV000568235	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658560
Clinvar_Rec_8963	rs876658560	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495700;RCV000221483;RCV000938838;RCV000602064	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs876658560
Clinvar_Rec_8964	rs750813972	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000410378;RCV000166260;RCV000586732;RCV000417761	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs750813972
Clinvar_Rec_8965	rs1555283963	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564765	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555283963
Clinvar_Rec_8966	rs146917776	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495498;RCV000165169;RCV000458013;RCV000443852	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs146917776
Clinvar_Rec_8967	rs1555284205	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001024015;RCV000979782;RCV000608482	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555284205
Clinvar_Rec_8968	rs80358764	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided	RCV000083117;RCV000575899;RCV000478720	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80358764
Clinvar_Rec_8969	rs139302211	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000165152;RCV000766624	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139302211
Clinvar_Rec_8970	rs80359512	Pathogenic	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000735564;RCV000031544;RCV000044655;RCV000131109;RCV000219181	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359512
Clinvar_Rec_8971	rs370252983	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000624983;RCV000685972;RCV000129811;RCV000766625;RCV000120347	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370252983
Clinvar_Rec_8972	rs1555284212	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661454	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555284212
Clinvar_Rec_8973	rs587781585	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000241292;RCV000129625	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs587781585
Clinvar_Rec_8974	rs397507350	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031545;RCV000697860;RCV000217283;RCV000587412;RCV000432442	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397507350
Clinvar_Rec_8975	rs1555284218	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569899	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555284218
Clinvar_Rec_8976	rs80358766	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000077352;RCV000044658;RCV000214539;RCV000589093;RCV000219100	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs80358766
Clinvar_Rec_8977	rs80358766	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000637410;RCV000165107	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs552526845
Clinvar_Rec_8978	rs1060504596	Likely benign	Hereditary breast and ovarian cancer syndrome	RCV000472943	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1060504596
Clinvar_Rec_8979	rs397507351	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000031546;RCV000686534	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs397507351
Clinvar_Rec_8980	rs80358767	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000113430;RCV000509828	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80358767
Clinvar_Rec_8981	rs397507785	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000241279;RCV000198909	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs397507785
Clinvar_Rec_8982	rs398122532	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000076931;RCV000810148;RCV001024101;RCV000160090	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398122532
Clinvar_Rec_8983	rs886040591	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257666	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040591
Clinvar_Rec_8984	rs878853589	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495429;RCV001024116;RCV000229221;RCV000426126	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs878853589
Clinvar_Rec_8985	rs1566232467	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773574	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566232467
Clinvar_Rec_8986	rs876658566	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV001059265;RCV000216871	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658566
Clinvar_Rec_8987	rs80359513	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000113431;RCV000496675;RCV000132083	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80359513
Clinvar_Rec_8988	rs886040592	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256779	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040592
Clinvar_Rec_8989	rs1555284237	Pathogenic	Breast-ovarian cancer, familial 2;not provided	RCV000661644;RCV000487395	MedGen;OMIM	C2675520;612555;MedGen	reviewed by expert panel	tagSNP	rs1555284237
Clinvar_Rec_8990	rs1555284237	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000704783	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555284237
Clinvar_Rec_8991	rs1566232503	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566232503
Clinvar_Rec_8992	rs587781580	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000199798;RCV000129617;RCV000588979;RCV000500810	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781580
Clinvar_Rec_8993	rs76469517	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582626	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs76469517
Clinvar_Rec_8994	rs80358997	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000077408;RCV000416519;RCV001026755;RCV000657751	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80358997
Clinvar_Rec_8995	rs1060502433	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000661664;RCV000472083;RCV000563168	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs1060502433
Clinvar_Rec_8996	rs1060502433	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773898	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060502433
Clinvar_Rec_8997	rs80359717	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;not provided	RCV000113960;RCV000045556;RCV000657323	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs80359717
Clinvar_Rec_8998	rs886040782	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome	RCV000257876;RCV000637754	MedGen;OMIM;MedGen;Orphanet	C2675520;612555;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040782
Clinvar_Rec_8999	rs786201333	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000637354	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs786201333
Clinvar_Rec_9000	rs786201333	Pathogenic/Likely pathogenic	Hereditary breast and ovarian cancer syndrome;not provided	RCV001051589;RCV000759674	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201333
Clinvar_Rec_9001	rs786201333	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000494779;RCV000163397	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786201333
Clinvar_Rec_9002	rs886040783	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256824	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040783
Clinvar_Rec_9003	rs869320798	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000210990;RCV001018006	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs869320798
Clinvar_Rec_9004	rs886040784	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257845	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs886040784
Clinvar_Rec_9005	rs80359720	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000031753;RCV000045566;RCV000218001;RCV000258966	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359720
Clinvar_Rec_9006	rs1555287778	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582873	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555287778
Clinvar_Rec_9007	rs1555287781	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661894	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555287781
Clinvar_Rec_9008	rs80359117	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000031754;RCV000574991	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs80359117
Clinvar_Rec_9009	rs80359118	Pathogenic	Breast-ovarian cancer, familial 2	RCV000113968	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs80359118
Clinvar_Rec_9010	rs1566249367	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000776776	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1566249367
Clinvar_Rec_9011	rs1060502471	Pathogenic	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000661820;RCV000470808;RCV000579735	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs1060502471
Clinvar_Rec_9012	rs1566249383	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000691491	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1566249383
Clinvar_Rec_9013	rs786201453	Likely benign	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome	RCV000494951;RCV000163677	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs786201453
Clinvar_Rec_9014	rs1131692139	Likely benign	Breast-ovarian cancer, familial 2	RCV000494794	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1131692139
Clinvar_Rec_9015	rs397508053	Pathogenic	Breast-ovarian cancer, familial 2	RCV000256748	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397508053
Clinvar_Rec_9016	rs1555289602	Likely pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000590521	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1555289602
Clinvar_Rec_9017	rs1555289604	Pathogenic	Breast-ovarian cancer, familial 2	RCV000661566	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs1555289604
Clinvar_Rec_9018	rs397508054	Pathogenic	Breast-ovarian cancer, familial 2	RCV000257243	MedGen;OMIM	C2675520;612555	reviewed by expert panel	tagSNP	rs397508054
Clinvar_Rec_9019	rs1060504608	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562039;RCV000637820	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504608
Clinvar_Rec_9020	rs1566260198	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV001019519;RCV000681959	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, single submitter	tagSNP	rs1566260198
Clinvar_Rec_9021	rs80359229	Benign	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000031835;RCV000045863;RCV000163019;RCV000587762;RCV000421898	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80359229
Clinvar_Rec_9022	rs566050392	Uncertain significance	Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000031550;RCV000470070;RCV000129225;RCV000120329	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2675520;612555;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138489917
Clinvar_Rec_9023	rs566050392	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 2;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000076932;RCV000132060;RCV000588125;RCV000160229	MedGen;OMIM;Orphanet;SNOMED CT	C2675520;612555;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs138489917
Clinvar_Rec_9024	rs147992424	Uncertain significance	Tumoral calcinosis, hyperphosphatemic, familial	RCV000405196	MedGen;Orphanet	C1876187;ORPHA306661	criteria provided, single submitter	tagSNP	rs147992424
Clinvar_Rec_9025	rs757603569	Uncertain significance	Tumoral calcinosis, hyperphosphatemic, familial	RCV000298266	MedGen;Orphanet	C1876187;ORPHA306661	criteria provided, single submitter	tagSNP	rs757603569
Clinvar_Rec_9026	rs886050125	Uncertain significance	Tumoral calcinosis, hyperphosphatemic, familial	RCV000403550	MedGen;Orphanet	C1876187;ORPHA306661	criteria provided, single submitter	tagSNP	rs886050125
Clinvar_Rec_9027	rs752874017	Uncertain significance	Primary pulmonary hypertension	RCV000279565	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs752874017
Clinvar_Rec_9028	rs1221939030	Uncertain significance	Pontocerebellar hypoplasia, type 1c	RCV000662025	MedGen;OMIM	C4015160;616081	criteria provided, single submitter	tagSNP	rs1221939030
Clinvar_Rec_9029	rs939534674	Pathogenic	Cryptophthalmos, unilateral or bilateral, isolated	RCV000767223	MedGen;OMIM;Orphanet	C1852453;123570;ORPHA98949	no assertion criteria provided	tagSNP	rs939534674
Clinvar_Rec_9030	rs533231784	Uncertain significance	Fraser syndrome 1	RCV000302444	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs533231784
Clinvar_Rec_9031	rs2496423	Benign	Fraser syndrome 1;not specified	RCV000357309;RCV000173610	MedGen;OMIM	C4551480;219000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2496423
Clinvar_Rec_9032	rs776269575	Pathogenic	FRASER SYNDROME 2	RCV000625675	MedGen;OMIM	C4540036;617666	no assertion criteria provided	tagSNP	rs776269575
Clinvar_Rec_9033	rs9548507	Benign	Fraser syndrome 1	RCV000300256	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs9548507
Clinvar_Rec_9034	rs537558193	Uncertain significance	Fraser syndrome 1	RCV000280504	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	LD derived	rs530142447
Clinvar_Rec_9035	rs7337135	Benign	Fraser syndrome 1	RCV000283966	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs7337135
Clinvar_Rec_9036	rs1259563970	Pathogenic	Congenital disorder of glycosylation type 2L	RCV000677237	MedGen;OMIM;Orphanet	C3553230;614576;ORPHA464443	criteria provided, single submitter	tagSNP	rs1259563970
Clinvar_Rec_9037	rs1480581747	Uncertain significance	Hereditary cancer-predisposing syndrome;Retinoblastoma	RCV001017125;RCV000699680	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790	criteria provided, multiple submitters, no conflicts	tagSNP	rs1480581747
Clinvar_Rec_9038	rs896487590	Uncertain significance	Retinoblastoma	RCV000632929	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	criteria provided, single submitter	tagSNP	rs896487590
Clinvar_Rec_9039	rs896487590	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001017289;RCV000632948	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs896487590
Clinvar_Rec_9040	rs766529534	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided	RCV000567067;RCV000989106;RCV000472888	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766529534
Clinvar_Rec_9041	rs554727080	Conflicting interpretations of pathogenicity	Bladder cancer, somatic;Osteosarcoma;Retinoblastoma;Small cell lung cancer;not provided	RCV000763897;RCV000763897;RCV000763897;RCV000763897;RCV000559096	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet	C0005684;109800;ORPHA157980;399326009;Human Phenotype Ontology;D012516;C0029463;259500;ORPHA668;21708004;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MedGen	criteria provided, conflicting interpretations	tagSNP	rs554727080
Clinvar_Rec_9042	rs1131690915	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492378	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690915
Clinvar_Rec_9043	rs1555282775	Pathogenic	Retinoblastoma	RCV000632934	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	criteria provided, single submitter	tagSNP	rs1555282775
Clinvar_Rec_9044	rs886050268	Uncertain significance	Retinoblastoma	RCV000302815	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	criteria provided, single submitter	tagSNP	rs886050268
Clinvar_Rec_9045	rs1555282783	Uncertain significance	Hereditary cancer-predisposing syndrome;Retinoblastoma	RCV001018070;RCV000632951	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555282783
Clinvar_Rec_9046	rs587778825	Pathogenic	Retinoblastoma	RCV000114701	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	no assertion criteria provided	tagSNP	rs587778825
Clinvar_Rec_9047	rs200844292	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided;not specified	RCV000563177;RCV000232627;RCV000730555;RCV000456021	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200844292
Clinvar_Rec_9048	rs1566194400	Uncertain significance	Retinoblastoma	RCV000709346	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D012175;C0035335;180200;ORPHA790	criteria provided, single submitter	tagSNP	rs1566194400
Clinvar_Rec_9049	rs121913305	Pathogenic	Hereditary cancer-predisposing syndrome;Retinoblastoma;not provided	RCV000492238;RCV000114677;RCV000521112	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913305
Clinvar_Rec_9050	rs775195256	Uncertain significance	Hereditary cancer-predisposing syndrome;Retinoblastoma	RCV001014347;RCV000686681	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790	criteria provided, multiple submitters, no conflicts	tagSNP	rs775195256
Clinvar_Rec_9051	rs1131690865	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492425	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690865
Clinvar_Rec_9052	rs78705382	Conflicting interpretations of pathogenicity	Aicardi Goutieres syndrome 2;not provided	RCV000697138;RCV000412805	MedGen;OMIM	C3489724;610181;MedGen	criteria provided, conflicting interpretations	tagSNP	rs78705382
Clinvar_Rec_9053	rs567043686	Uncertain significance	Wilson disease	RCV000397436	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs567043686
Clinvar_Rec_9054	rs886050299	Uncertain significance	Wilson disease	RCV000308103	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs886050299
Clinvar_Rec_9055	rs886050305	Uncertain significance	Wilson disease	RCV000356894	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs886050305
Clinvar_Rec_9056	rs1057516228	Likely pathogenic	Wilson disease	RCV000412369	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs1057516228
Clinvar_Rec_9057	rs748924063	Likely pathogenic	Wilson disease	RCV000169520	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs748924063
Clinvar_Rec_9058	rs587783315	Conflicting interpretations of pathogenicity	Wilson disease;not specified	RCV000667056;RCV000145277	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587783315
Clinvar_Rec_9059	rs137853279	no interpretation for the single variant	Wilson disease	RCV000004067	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	no interpretation for the single variant	tagSNP	rs137853279
Clinvar_Rec_9060	rs756029120	Pathogenic/Likely pathogenic	Wilson disease	RCV000169445	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, multiple submitters, no conflicts	tagSNP	rs756029120
Clinvar_Rec_9061	rs749085322	Likely pathogenic	Wilson disease	RCV000193725	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs749085322
Clinvar_Rec_9062	rs777879359	Uncertain significance	Wilson disease	RCV000667772	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs777879359
Clinvar_Rec_9063	rs1555285911	Uncertain significance	Wilson disease	RCV000669922	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs1555285911
Clinvar_Rec_9064	rs764131178	Pathogenic	Wilson disease;not specified	RCV000395391;RCV000506750	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764131178
Clinvar_Rec_9065	rs770020484	Likely pathogenic	Wilson disease	RCV000670601	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, multiple submitters, no conflicts	tagSNP	rs770020484
Clinvar_Rec_9066	rs752569	Benign	Wilson disease	RCV000336343	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	LD derived	rs928169
Clinvar_Rec_9067	rs752569	Benign/Likely benign	Wilson disease;not provided;not specified	RCV000029376;RCV000999513;RCV000078054	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2282057
Clinvar_Rec_9068	rs752569	Benign	Wilson disease;not specified	RCV000029369;RCV000078051	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1801249
Clinvar_Rec_9069	rs752569	Benign	Wilson disease;not specified	RCV000029357;RCV000078044	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs732774
Clinvar_Rec_9070	rs752569	Benign	Wilson disease;not specified	RCV000029356;RCV000078043	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1061472
Clinvar_Rec_9071	rs191267920	Likely benign	Auditory neuropathy, autosomal dominant, 1;not provided;not specified	RCV000989144;RCV000969283;RCV000606425	MedGen;OMIM	C1836743;609129;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs191267920
Clinvar_Rec_9072	rs75549092	Likely benign	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	RCV000340633	MedGen	CN239251	criteria provided, single submitter	LD derived	rs111327761
Clinvar_Rec_9073	rs374431043	Pathogenic	Mental retardation, short stature, facial anomalies, and joint dislocations	RCV000767371	MedGen;OMIM	C1853507;606220	no assertion criteria provided	tagSNP	rs374431043
Clinvar_Rec_9074	rs193302861	Pathogenic	Tourette Syndrome;Trichotillomania	RCV000001644;RCV000001645	MedGen;OMIM;MedGen;OMIM	C0040517;137580;Human Phenotype Ontology;C0040953;613229	no assertion criteria provided	tagSNP	rs193302861
Clinvar_Rec_9075	rs140196319	Uncertain significance	Omodysplasia	RCV000349287	MedGen;Orphanet	C4510897;ORPHA2733	criteria provided, single submitter	tagSNP	rs140196319
Clinvar_Rec_9076	rs1443858896	Likely pathogenic	Propionic acidemia	RCV000669921	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, multiple submitters, no conflicts	tagSNP	rs1443858896
Clinvar_Rec_9077	rs151325645	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000272190	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs151325645
Clinvar_Rec_9078	rs199928228	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis 5	RCV000703550;RCV000703550	MedGen;OMIM;Orphanet;OMIM	C3280845;614455;ORPHA93114;MedGen;613237	criteria provided, single submitter	LD derived	rs189559257
Clinvar_Rec_9079	rs376788669	Uncertain significance	Purine-nucleoside phosphorylase deficiency;not provided	RCV000797839;RCV000522561	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376788669
Clinvar_Rec_9080	rs563086985	Conflicting interpretations of pathogenicity	Purine-nucleoside phosphorylase deficiency;not provided	RCV000289959;RCV000923385	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs563086985
Clinvar_Rec_9081	rs104894451	Pathogenic/Likely pathogenic	Purine-nucleoside phosphorylase deficiency;not provided	RCV000015028;RCV000419921	MedGen;OMIM;Orphanet;SNOMED CT	C0268125;613179;ORPHA760;60743005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104894451
Clinvar_Rec_9082	rs577745864	Uncertain significance	Inborn genetic diseases	RCV000622768	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	LD derived	rs200858701
Clinvar_Rec_9083	rs777877901	Uncertain significance	Cone-Rod Dystrophy, Recessive;Leber congenital amaurosis	RCV000362312;RCV000326212	MedGen;MedGen;Orphanet;SNOMED CT	CN239309;MeSH;C0339527;ORPHA65;193413001	criteria provided, single submitter	tagSNP	rs777877901
Clinvar_Rec_9084	rs78959918	Benign	History of neurodevelopmental disorder;not provided	RCV000716421;RCV000871459	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61756312
Clinvar_Rec_9085	rs370827611	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000719938;RCV000877381	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370827611
Clinvar_Rec_9086	rs58334761	Benign/Likely benign	Cone-Rod Dystrophy, Recessive;Cone-rod dystrophy 13;Leber congenital amaurosis;Leber congenital amaurosis 6;not specified	RCV000369993;RCV000559934;RCV000315506;RCV000559934;RCV000756603	MedGen;OMIM;MedGen;Orphanet;SNOMED CT;OMIM	CN239309;MedGen;608194;MeSH;C0339527;ORPHA65;193413001;MedGen;613826;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34725281
Clinvar_Rec_9087	rs1057519411	Likely benign	Autism, susceptibility to, 18	RCV000417102	MedGen;OMIM	C3554373;615032	no assertion criteria provided	tagSNP	rs1057519411
Clinvar_Rec_9088	rs1566446604	Pathogenic	Autism, susceptibility to, 18	RCV000678371	MedGen;OMIM	C3554373;615032	criteria provided, single submitter	tagSNP	rs1566446604
Clinvar_Rec_9089	rs11568438	Benign	Lysinuric protein intolerance;not specified	RCV000553552;RCV000424204	MedGen;OMIM;Orphanet;SNOMED CT	C0268647;222700;ORPHA470;303852004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11568438
Clinvar_Rec_9090	rs144001616	Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Myopathy, distal, 1;Myosin storage myopathy;Scapuloperoneal myopathy;not provided;not specified	RCV000777768;RCV000621588;RCV000399496;RCV000280479;RCV000341444;RCV000376055;RCV000340222;RCV000286338;RCV000857793;RCV000035745	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;OMIM;Orphanet;OMIM;SNOMED CT;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen;160500;ORPHA59135;MedGen;608358;699267007;Human Phenotype Ontology;C2931268;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201860580
Clinvar_Rec_9091	rs144001616	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided;not specified	RCV000770497;RCV000724135;RCV000174837	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs201860580
Clinvar_Rec_9092	rs142767538	Uncertain significance	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000394343;RCV000346061;RCV000288803	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet	HP;C0018817;ORPHA1478;MedGen;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs142767538
Clinvar_Rec_9093	rs753335327	Conflicting interpretations of pathogenicity	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided	RCV000397958;RCV000351857;RCV000298113;RCV000647089	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet	HP;C0018817;ORPHA1478;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs753335327
Clinvar_Rec_9094	rs745473249	Uncertain significance	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 14;Primary familial hypertrophic cardiomyopathy	RCV000244484;RCV000534166;RCV000624009	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;613251;MeSH;C0949658;ORPHA155;83978005	criteria provided, multiple submitters, no conflicts	tagSNP	rs745473249
Clinvar_Rec_9095	rs1555333457	Likely benign	Cardiovascular phenotype	RCV000620367	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555333457
Clinvar_Rec_9096	rs755434984	Uncertain significance	Cardiovascular phenotype	RCV000620842	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs755434984
Clinvar_Rec_9097	rs756392451	Uncertain significance	Cardiovascular phenotype	RCV000618949	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs756392451
Clinvar_Rec_9098	rs141062252	Likely benign	Cardiovascular phenotype;not provided	RCV000245170;RCV000841612	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141062252
Clinvar_Rec_9099	rs757043117	Uncertain significance	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000290256;RCV000347508;RCV000386479	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet	HP;C0018817;ORPHA1478;MedGen;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs757043117
Clinvar_Rec_9100	rs777320756	Uncertain significance	Cardiovascular phenotype	RCV000617526	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs777320756
Clinvar_Rec_9101	rs540893860	Conflicting interpretations of pathogenicity	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided	RCV000275475;RCV000328267;RCV000385009;RCV000647086	Human Phenotype Ontology;MedGen;Orphanet;MedGen;Orphanet	HP;C0018817;ORPHA1478;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs540893860
Clinvar_Rec_9102	rs148915045	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769419;RCV000619683;RCV000457574;RCV000151220	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148915045
Clinvar_Rec_9103	rs142992009	Conflicting interpretations of pathogenicity	Familial hypertrophic cardiomyopathy 14;Inborn genetic diseases;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000989183;RCV000249428;RCV000143919;RCV000172566;RCV000151221	MedGen;OMIM;MedGen;MedGen;Orphanet;SNOMED CT	C2750467;613251;MeSH;C0950123;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142992009
Clinvar_Rec_9104	rs202196487	Pathogenic	Left ventricular noncompaction 5	RCV000056317	MedGen	C3150690	no assertion criteria provided	LD derived	rs138110910
Clinvar_Rec_9105	rs1263987728	Pathogenic	Familial dilated cardiomyopathy	RCV000624469	MedGen;Orphanet	C0340427;ORPHA217607	criteria provided, single submitter	tagSNP	rs1263987728
Clinvar_Rec_9106	rs756369181	Uncertain significance	Familial hypertrophic cardiomyopathy 14	RCV000696586	MedGen;OMIM	C2750467;613251	criteria provided, single submitter	tagSNP	rs756369181
Clinvar_Rec_9107	rs397516256	Uncertain significance	Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified	RCV000619475;RCV000456646;RCV000035985	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516256
Clinvar_Rec_9108	rs397516256	Uncertain significance	Hypertrophic cardiomyopathy;not specified	RCV000684861;RCV000218106	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516256
Clinvar_Rec_9109	rs539290591	Uncertain significance	Hypertrophic cardiomyopathy	RCV000457339	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs539290591
Clinvar_Rec_9110	rs539290591	Likely benign	Hypertrophic cardiomyopathy;not specified	RCV000629041;RCV000599641	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs539290591
Clinvar_Rec_9111	rs539290591	Uncertain significance	Hypertrophic cardiomyopathy;not provided	RCV000704962;RCV000158717	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs539290591
Clinvar_Rec_9112	rs138110910	Pathogenic	Left ventricular noncompaction 5	RCV000056317	MedGen	C3150690	no assertion criteria provided	tagSNP	rs138110910
Clinvar_Rec_9113	rs397516255	Uncertain significance	Cardiovascular phenotype;not specified	RCV000242074;RCV000035984	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516255
Clinvar_Rec_9114	rs1555335933	Uncertain significance	Muscular hypotonia;Primary dilated cardiomyopathy	RCV000626635;RCV000626635	Human Phenotype Ontology;MedGen;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0026827;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs1555335933
Clinvar_Rec_9115	rs397516252	Likely pathogenic	Primary dilated cardiomyopathy	RCV000035978	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs397516252
Clinvar_Rec_9116	rs121913649	Pathogenic	Myosin storage myopathy	RCV000015174	MedGen;OMIM;SNOMED CT	C1842160;608358;699267007	no assertion criteria provided	tagSNP	rs121913649
Clinvar_Rec_9117	rs797044598	Pathogenic	Myopathy, distal, 1	RCV000192204	MedGen;OMIM;Orphanet	C4552004;160500;ORPHA59135	no assertion criteria provided	tagSNP	rs797044598
Clinvar_Rec_9118	rs748598020	Uncertain significance	Cardiomyopathy	RCV000770469	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs748598020
Clinvar_Rec_9119	rs121913654	Pathogenic	Familial hypertrophic cardiomyopathy 1;Left ventricular noncompaction 5;Myosin storage myopathy;not provided	RCV000015182;RCV000015183;RCV000015181;RCV000158696	MedGen;OMIM;OMIM;SNOMED CT	C3495498;192600;MedGen;608358;699267007;MedGen	criteria provided, single submitter	tagSNP	rs121913654
Clinvar_Rec_9120	rs201171029	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000777860;RCV000712362;RCV000035960	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201171029
Clinvar_Rec_9121	rs730880935	Conflicting interpretations of pathogenicity	Cardiomyopathy;Hypertrophic cardiomyopathy	RCV000158896;RCV001045070	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, conflicting interpretations	tagSNP	rs730880935
Clinvar_Rec_9122	rs1566522632	Uncertain significance	Hypertrophic cardiomyopathy	RCV000699949	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1566522632
Clinvar_Rec_9123	rs397516245	Uncertain significance	Hypertrophic cardiomyopathy;not provided;not specified	RCV000471209;RCV000766754;RCV000035958	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516245
Clinvar_Rec_9124	rs369437262	Uncertain significance	Cardiovascular phenotype;Congenital myopathy with fiber type disproportion;Dilated cardiomyopathy 1S;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;MYH7-related late-onset scapuloperoneal muscular dystrophy;Myopathy, distal, 1;Myopathy, myosin storage, autosomal recessive;Myosin storage myopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000620185;RCV000765157;RCV000765157;RCV000765157;RCV000462813;RCV000765157;RCV000765157;RCV000765157;RCV000765157;RCV000168915;RCV000514376;RCV000154209	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;OMIM;SNOMED CT;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;255310;ORPHA2020;240084007;MedGen;613426;MedGen;192600;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;181430;ORPHA437572;MedGen;160500;ORPHA59135;MedGen;255160;MedGen;608358;699267007;MeSH;C0949658;ORPHA155;83978005;MedGen	reviewed by expert panel	tagSNP	rs369437262
Clinvar_Rec_9125	rs730880814	Uncertain significance	Hypertrophic cardiomyopathy;not provided	RCV000803340;RCV000158690	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730880814
Clinvar_Rec_9126	rs2754155	Benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Myopathy, distal, 1;Myosin storage myopathy;Scapuloperoneal myopathy;not provided;not specified	RCV000758044;RCV000253223;RCV000310680;RCV000306450;RCV000370506;RCV000192198;RCV000365328;RCV000275965;RCV000857569;RCV000035921	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;OMIM;Orphanet;OMIM;SNOMED CT;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen;160500;ORPHA59135;MedGen;608358;699267007;Human Phenotype Ontology;C2931268;MedGen	reviewed by expert panel	tagSNP	rs2754155
Clinvar_Rec_9127	rs727504325	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Hypertrophic cardiomyopathy;not provided	RCV000620123;RCV000560763;RCV000766456	MedGen;MedGen;Orphanet	CN230736;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs727504325
Clinvar_Rec_9128	rs1199930760	Likely benign	Cardiomyopathy	RCV000773719	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1199930760
Clinvar_Rec_9129	rs1238061743	Uncertain significance	Hypertrophic cardiomyopathy	RCV000691125	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1238061743
Clinvar_Rec_9130	rs200288088	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000771905;RCV000863815;RCV000168899	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200288088
Clinvar_Rec_9131	rs201195256	Uncertain significance	Cardiomyopathy;Hypertrophic cardiomyopathy;not specified	RCV000776202;RCV001057776;RCV000222375	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0878544;ORPHA167848;85898001;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201195256
Clinvar_Rec_9132	rs1566529310	Uncertain significance	Cardiomyopathy	RCV000770483	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1566529310
Clinvar_Rec_9133	rs730880901	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;not provided;not specified	RCV000226190;RCV000158855;RCV000223789	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730880901
Clinvar_Rec_9134	rs1391622163	Uncertain significance	Hypertrophic cardiomyopathy	RCV000700152	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1391622163
Clinvar_Rec_9135	rs397516161	Pathogenic	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000242919;RCV000162341;RCV000198644;RCV000257928;RCV000223927;RCV001000982	MedGen;OMIM;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;192600;Human Phenotype Ontology;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005;MedGen	reviewed by expert panel	tagSNP	rs397516161
Clinvar_Rec_9136	rs863225097	Likely pathogenic	Familial hypertrophic cardiomyopathy 1	RCV000201480	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	tagSNP	rs863225097
Clinvar_Rec_9137	rs727504241	Pathogenic	Hypertrophic cardiomyopathy	RCV000154207	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs727504241
Clinvar_Rec_9138	rs1057524857	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;not provided	RCV000460699;RCV000429496	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057524857
Clinvar_Rec_9139	rs121913627	Uncertain significance	Hypertrophic cardiomyopathy	RCV000628983	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs121913627
Clinvar_Rec_9140	rs121913627	Pathogenic/Likely pathogenic	Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	RCV000252267;RCV000015147;RCV000015167;RCV000473084;RCV000035750;RCV000223823	MedGen;OMIM;OMIM;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;192600;MedGen;192600;Human Phenotype Ontology;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913627
Clinvar_Rec_9141	rs672601321	Uncertain significance	Familial cardiomyopathy	RCV000149449	MedGen;SNOMED CT	C0264789;35728003	no assertion criteria provided	tagSNP	rs672601321
Clinvar_Rec_9142	rs606231325	Uncertain significance	Hypertrophic cardiomyopathy	RCV000702802	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs606231325
Clinvar_Rec_9143	rs606231325	Uncertain significance	Familial cardiomyopathy	RCV000148973	MedGen;SNOMED CT	C0264789;35728003	no assertion criteria provided	tagSNP	rs606231325
Clinvar_Rec_9144	rs727504237	Likely pathogenic	Familial dilated cardiomyopathy;Hypertrophic cardiomyopathy	RCV000845442;RCV000154203	MedGen;Orphanet;MedGen;Orphanet	C0340427;ORPHA217607;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, multiple submitters, no conflicts	tagSNP	rs727504237
Clinvar_Rec_9145	rs1566534664	Uncertain significance	Hypertrophic cardiomyopathy	RCV000701623	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1566534664
Clinvar_Rec_9146	rs878853840	Uncertain significance	Hypertrophic cardiomyopathy	RCV000234529	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs878853840
Clinvar_Rec_9147	rs397516259	Conflicting interpretations of pathogenicity	Hypertrophic cardiomyopathy;not provided	RCV000628868;RCV000158748	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397516259
Clinvar_Rec_9148	rs140245862	Benign	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Myopathy, distal, 1;Myosin storage myopathy;Scapuloperoneal myopathy;not provided;not specified	RCV000758041;RCV000286205;RCV000231766;RCV000379561;RCV000282609;RCV000395505;RCV000341111;RCV000858301;RCV000035837	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;OMIM;Orphanet;OMIM;SNOMED CT;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen;160500;ORPHA59135;MedGen;608358;699267007;Human Phenotype Ontology;C2931268;MedGen	reviewed by expert panel	tagSNP	rs140245862
Clinvar_Rec_9149	rs200493975	Uncertain significance	Cardiovascular phenotype	RCV000617460	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs200493975
Clinvar_Rec_9150	rs200493975	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000769468;RCV000232772;RCV000154777	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200493975
Clinvar_Rec_9151	rs774429242	Likely benign	Cardiomyopathy;not provided;not specified	RCV000770502;RCV000863281;RCV000442148	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774429242
Clinvar_Rec_9152	rs769170035	Uncertain significance	Dyskeratosis Congenita, Dominant;Revesz syndrome	RCV000263846;RCV000316536	MedGen;OMIM;Orphanet	CN239266;MedGen;268130;ORPHA3088	criteria provided, single submitter	tagSNP	rs769170035
Clinvar_Rec_9153	rs201853046	Likely pathogenic	Autosomal recessive congenital ichthyosis 1	RCV000667917	MedGen;OMIM	C4551630;242300	criteria provided, single submitter	tagSNP	rs201853046
Clinvar_Rec_9154	rs1555305725	Likely pathogenic	Autosomal recessive congenital ichthyosis 1	RCV000674415	MedGen;OMIM	C4551630;242300	criteria provided, single submitter	tagSNP	rs1555305725
Clinvar_Rec_9155	rs1044429462	Uncertain significance	Autosomal recessive congenital ichthyosis 1	RCV000664924	MedGen;OMIM	C4551630;242300	criteria provided, single submitter	tagSNP	rs1044429462
Clinvar_Rec_9156	rs121918731	Pathogenic	Autosomal recessive congenital ichthyosis 1;Lamellar ichthyosis;not provided	RCV000762928;RCV000599792;RCV000413014	MedGen;OMIM;Orphanet	C4551630;242300;MedGen;ORPHA313;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918731
Clinvar_Rec_9157	rs121918731	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1;not provided	RCV000013322;RCV000795243	MedGen;OMIM	C4551630;242300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918731
Clinvar_Rec_9158	rs397514524	Uncertain significance	Autosomal recessive congenital ichthyosis 1	RCV000032726	MedGen;OMIM	C4551630;242300	criteria provided, single submitter	tagSNP	rs397514524
Clinvar_Rec_9159	rs147260129	Uncertain significance	Congenital ichthyosiform erythroderma	RCV000353237	Human Phenotype Ontology;MedGen	HP;C0079583	criteria provided, single submitter	tagSNP	rs147260129
Clinvar_Rec_9160	rs8003142	Uncertain significance	Congenital ichthyosiform erythroderma	RCV000262942	Human Phenotype Ontology;MedGen	HP;C0079583	criteria provided, single submitter	tagSNP	rs8003142
Clinvar_Rec_9161	rs267606828	Pathogenic	Rett syndrome, congenital variant	RCV000014884	MedGen;OMIM	C3150705;613454	no assertion criteria provided	tagSNP	rs267606828
Clinvar_Rec_9162	rs199501211	Pathogenic	Deafness, autosomal dominant 9	RCV000006987	MedGen;OMIM	C1832425;601369	no assertion criteria provided	LD derived	rs121908927
Clinvar_Rec_9163	rs200401432	Uncertain significance	Inborn genetic diseases;MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21;Mitochondrial complex I deficiency;not provided	RCV000622708;RCV000735415;RCV000000017;RCV000196589	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;618242;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200401432
Clinvar_Rec_9164	rs886050481	Uncertain significance	Benign hereditary chorea;Choreoathetosis, hypothyroidism, and neonatal respiratory distress	RCV000282908;RCV000347223	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0393584;118700;ORPHA1429;230306001;MedGen;610978;ORPHA209905	criteria provided, single submitter	tagSNP	rs886050481
Clinvar_Rec_9165	rs139536545	Uncertain significance	Fanconi anemia	RCV000347988	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, multiple submitters, no conflicts	tagSNP	rs139536545
Clinvar_Rec_9166	rs3007037	Uncertain significance	Congenital disorder of glycosylation	RCV000267925	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs3007037
Clinvar_Rec_9167	rs3007037	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000354512;RCV000858402;RCV000241963	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	LD derived	rs2985688
Clinvar_Rec_9168	rs776531113	Pathogenic	Congenital disorder of glycosylation, type IIa	RCV000754821	MedGen;OMIM;Orphanet	C2931008;212066;ORPHA79329	no assertion criteria provided	tagSNP	rs776531113
Clinvar_Rec_9169	rs1227265660	Uncertain significance	Primary ciliary dyskinesia	RCV000545088	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1227265660
Clinvar_Rec_9170	rs797045167	Likely pathogenic	Noonan syndrome 9	RCV000699741	MedGen;OMIM	C4225282;616559	criteria provided, single submitter	tagSNP	rs797045167
Clinvar_Rec_9171	rs797045167	Pathogenic	Noonan syndrome 9	RCV000191031	MedGen;OMIM	C4225282;616559	criteria provided, single submitter	tagSNP	rs797045167
Clinvar_Rec_9172	rs904259357	Uncertain significance	Spastic paraplegia 28, autosomal recessive	RCV000698106	MedGen;OMIM;Orphanet	C1836295;609340;ORPHA101008	criteria provided, single submitter	tagSNP	rs904259357
Clinvar_Rec_9173	rs41298442	Conflicting interpretations of pathogenicity	Dystonia 5;Dystonia 5;Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive;GTP cyclohydrolase I deficiency;GTP cyclohydrolase I deficiency;not provided	RCV000009865;RCV000525589;RCV000009866;RCV000525589;RCV000989227;RCV000517539	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1851920;128230;ORPHA98808;MedGen;128230;ORPHA98808;MedGen;ORPHA101150;MedGen;233910;ORPHA2102;23447005;MedGen;233910;ORPHA2102;23447005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs41298442
Clinvar_Rec_9174	rs886050559	Uncertain significance	Combined Pituitary Hormone Deficiency, Dominant;OTX2-Related Syndromic Microphthalmia;Retinal dystrophy;Syndromic Microphthalmia, Dominant	RCV000362848;RCV000310510;RCV000270674;RCV000323416	MedGen;MedGen;Orphanet;SNOMED CT	CN239342;MedGen;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs886050559
Clinvar_Rec_9175	rs867342730	Likely pathogenic	Joubert syndrome 23	RCV000499394	MedGen;OMIM	C4084822;616490	criteria provided, single submitter	tagSNP	rs867342730
Clinvar_Rec_9176	rs34449017	Likely benign	Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000285603;RCV000545568;RCV000365497	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34449017
Clinvar_Rec_9177	rs886050581	Uncertain significance	Emery-Dreifuss muscular dystrophy	RCV000376202	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs886050581
Clinvar_Rec_9178	rs200143024	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided	RCV000812641;RCV000340242	MedGen;OMIM	C2751805;612999;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200143024
Clinvar_Rec_9179	rs8010699	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided	RCV000532586;RCV000393944	MedGen;OMIM	C2751805;612999;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8010699
Clinvar_Rec_9180	rs8010699	Benign	Emery-Dreifuss muscular dystrophy;not specified	RCV000344125;RCV000118561	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8010699
Clinvar_Rec_9181	rs779367486	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000647541	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	tagSNP	rs779367486
Clinvar_Rec_9182	rs35920722	Benign/Likely benign	Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000396439;RCV000529459;RCV000518017	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35920722
Clinvar_Rec_9183	rs138323662	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided	RCV000647529;RCV000593729	MedGen;OMIM	C2751805;612999;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138323662
Clinvar_Rec_9184	rs566886977	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided	RCV001064084;RCV000713710	MedGen;OMIM	C2751805;612999;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs566886977
Clinvar_Rec_9185	rs886050596	Uncertain significance	Emery-Dreifuss muscular dystrophy	RCV000308142	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs886050596
Clinvar_Rec_9186	rs766731181	Uncertain significance	Emery-Dreifuss muscular dystrophy	RCV000279555	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs766731181
Clinvar_Rec_9187	rs377305355	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000647535	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	tagSNP	rs377305355
Clinvar_Rec_9188	rs36215895	Conflicting interpretations of pathogenicity	Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided;not specified	RCV000403391;RCV000002414;RCV000713713;RCV000173937	MedGen;Orphanet;SNOMED CT;OMIM	C0410189;ORPHA261;111508004;MedGen;612999;MedGen	criteria provided, conflicting interpretations	tagSNP	rs36215895
Clinvar_Rec_9189	rs141741640	Likely benign	Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000365749;RCV000548971;RCV000173944	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141741640
Clinvar_Rec_9190	rs150629598	Uncertain significance	Emery-Dreifuss muscular dystrophy;not specified	RCV000271387;RCV000518669	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150629598
Clinvar_Rec_9191	rs372546949	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided	RCV000700866;RCV000405262	MedGen;OMIM	C2751805;612999;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372546949
Clinvar_Rec_9192	rs35648226	Benign	Emery-Dreifuss muscular dystrophy;not specified	RCV000289541;RCV000118530	MedGen;Orphanet;SNOMED CT	C0410189;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35648226
Clinvar_Rec_9193	rs570041579	Uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	RCV000542640	MedGen;OMIM	C2751805;612999	criteria provided, single submitter	LD derived	rs559503999
Clinvar_Rec_9194	rs200908449	Uncertain significance	Elliptocytosis;Spherocytosis, Dominant	RCV000377001;RCV000282630	Human Phenotype Ontology;MedGen	HP;C0427480;MedGen	criteria provided, single submitter	tagSNP	rs200908449
Clinvar_Rec_9195	rs145675502	Uncertain significance	Elliptocytosis;Spherocytosis, Dominant;not specified	RCV000303487;RCV000358248;RCV001000390	Human Phenotype Ontology;MedGen	HP;C0427480;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145675502
Clinvar_Rec_9196	rs886050627	Uncertain significance	Elliptocytosis;Spherocytosis, Dominant	RCV000321491;RCV000373860	Human Phenotype Ontology;MedGen	HP;C0427480;MedGen	criteria provided, single submitter	tagSNP	rs886050627
Clinvar_Rec_9197	rs2277503	Benign/Likely benign	Elliptocytosis;Spherocytosis, Dominant;not specified	RCV000304940;RCV000343468;RCV000246783	Human Phenotype Ontology;MedGen	HP;C0427480;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2277503
Clinvar_Rec_9198	rs1485899939	Likely benign	Hereditary Paraganglioma-Pheochromocytoma Syndromes	RCV000557225	MedGen;Orphanet	C1708353;ORPHA29072	criteria provided, single submitter	tagSNP	rs1485899939
Clinvar_Rec_9199	rs886050639	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000330710	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs886050639
Clinvar_Rec_9200	rs752388667	Uncertain significance	Spastic paraplegia;not provided	RCV000705422;RCV000591871	Human Phenotype Ontology;MedGen	HP;C0037772;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752388667
Clinvar_Rec_9201	rs768366199	Pathogenic	Spastic paraplegia	RCV000555443	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs768366199
Clinvar_Rec_9202	rs267604033	Uncertain significance	Hereditary spastic paraplegia 15	RCV000665181	MedGen;OMIM;Orphanet	C1849128;270700;ORPHA100996	criteria provided, single submitter	tagSNP	rs267604033
Clinvar_Rec_9203	rs17192170	Benign/Likely benign	Spastic Paraplegia, Recessive;not provided;not specified	RCV000392341;RCV000461035;RCV000434229	MedGen	CN239433;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17192170
Clinvar_Rec_9204	rs1555398241	Likely pathogenic	Hereditary spastic paraplegia 15	RCV000669461	MedGen;OMIM;Orphanet	C1849128;270700;ORPHA100996	criteria provided, single submitter	tagSNP	rs1555398241
Clinvar_Rec_9205	rs362396	Likely benign	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease	RCV000277191;RCV000330145	MedGen;Orphanet	CN239310;MedGen;ORPHA1020	criteria provided, single submitter	tagSNP	rs362396
Clinvar_Rec_9206	rs764120281	Uncertain significance	Primary congenital glaucoma;Weill-Marchesani syndrome	RCV000290250;RCV000347515	Human Phenotype Ontology;MedGen;Orphanet	HP;C1533041;MedGen;ORPHA3449	criteria provided, single submitter	tagSNP	rs764120281
Clinvar_Rec_9207	rs759632617	Uncertain significance	Primary congenital glaucoma;Weill-Marchesani syndrome	RCV000366921;RCV000312279	Human Phenotype Ontology;MedGen;Orphanet	HP;C1533041;MedGen;ORPHA3449	criteria provided, single submitter	tagSNP	rs759632617
Clinvar_Rec_9208	rs2304707	Benign/Likely benign	Primary congenital glaucoma;Weill-Marchesani syndrome;not provided;not specified	RCV000381852;RCV000268888;RCV000837526;RCV000246651	Human Phenotype Ontology;MedGen;Orphanet	HP;C1533041;MedGen;ORPHA3449;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2304707
Clinvar_Rec_9209	rs769936231	Uncertain significance	Primary congenital glaucoma;Weill-Marchesani syndrome	RCV000267683;RCV000357706	Human Phenotype Ontology;MedGen;Orphanet	HP;C1533041;MedGen;ORPHA3449	criteria provided, single submitter	tagSNP	rs769936231
Clinvar_Rec_9210	rs886050763	Uncertain significance	Primary congenital glaucoma;Weill-Marchesani syndrome	RCV000322823;RCV000372821	Human Phenotype Ontology;MedGen;Orphanet	HP;C1533041;MedGen;ORPHA3449	criteria provided, single submitter	tagSNP	rs886050763
Clinvar_Rec_9211	rs77514025	Likely benign	Leukoencephalopathy with vanishing white matter;Lynch syndrome	RCV000259710;RCV000347337	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen;ORPHA144	criteria provided, single submitter	tagSNP	rs77514025
Clinvar_Rec_9212	rs77514025	Likely benign	Lynch syndrome	RCV000407550	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	LD derived	rs145920461
Clinvar_Rec_9213	rs34012003	Benign/Likely benign	Lynch syndrome;not provided;not specified	RCV000331433;RCV000204364;RCV000584205	MedGen;Orphanet	C1333990;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11556091
Clinvar_Rec_9214	rs1322268460	Benign	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	RCV000274666	MedGen;OMIM;Orphanet	C1856972;225790;ORPHA221126	criteria provided, single submitter	tagSNP	rs1322268460
Clinvar_Rec_9215	rs4252347	Likely benign	Arrhythmogenic right ventricular cardiomyopathy	RCV000366760	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs4252347
Clinvar_Rec_9216	rs1555360362	Likely pathogenic	Loeys-Dietz syndrome 4	RCV000654896	MedGen;OMIM	C3553762;614816	criteria provided, single submitter	tagSNP	rs1555360362
Clinvar_Rec_9217	rs1299759608	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000622564	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs1299759608
Clinvar_Rec_9218	rs749768136	Benign/Likely benign	Cardiovascular phenotype;not provided	RCV000617820;RCV000868249	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749768136
Clinvar_Rec_9219	rs748598952	Likely benign	Loeys-Dietz syndrome 4;not provided	RCV000232295;RCV000869295	MedGen;OMIM	C3553762;614816;MedGen	criteria provided, single submitter	tagSNP	rs748598952
Clinvar_Rec_9220	rs145051522	Likely benign	Cardiovascular phenotype;not provided	RCV000620142;RCV000456464	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145051522
Clinvar_Rec_9221	rs568225670	Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000621423;RCV000541925;RCV000426809	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs375232060
Clinvar_Rec_9222	rs2361293	Benign	Nonsyndromic Hearing Loss, Recessive;not specified	RCV000351899;RCV000038141	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2361293
Clinvar_Rec_9223	rs3813545	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000383484	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs3813545
Clinvar_Rec_9224	rs886050809	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000281620	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886050809
Clinvar_Rec_9225	rs536842737	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	RCV000372300	MedGen	CN239352	criteria provided, single submitter	LD derived	rs543216671
Clinvar_Rec_9226	rs369489033	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;not provided	RCV000648177;RCV000648177;RCV000648177;RCV000597224	MedGen;OMIM;OMIM;OMIM;Orphanet	C3150411;613150;MedGen;613156;MedGen;613158;ORPHA206559;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369489033
Clinvar_Rec_9227	rs578110330	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	RCV000372300	MedGen	CN239352	criteria provided, single submitter	LD derived	rs543216671
Clinvar_Rec_9228	rs577090752	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	RCV000695110;RCV000695110;RCV000695110	MedGen;OMIM;OMIM;OMIM;Orphanet	C3150411;613150;MedGen;613156;MedGen;613158;ORPHA206559	criteria provided, single submitter	LD derived	rs555289061
Clinvar_Rec_9229	rs115191009	Benign/Likely benign	Hereditary sensory and autonomic neuropathy type IC;not provided;not specified	RCV000398828;RCV000756720;RCV000425069	MedGen;OMIM	C3150896;613640;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115191009
Clinvar_Rec_9230	rs61747482	Benign/Likely benign	Congenital hypothyroidism;Hyperthyroidism, nonautoimmune;THYROTROPIN RECEPTOR POLYMORPHISM;not provided;not specified	RCV000373195;RCV000259846;RCV000006799;RCV000870612;RCV000122245	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0010308;ORPHA442;190268003;MedGen;609152;ORPHA424;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61747482
Clinvar_Rec_9231	rs121908871	Pathogenic	Hypothyroidism, congenital, nongoitrous, 1	RCV000006814	MedGen;OMIM;Orphanet	C3493776;275200;ORPHA90673	no assertion criteria provided	tagSNP	rs121908871
Clinvar_Rec_9232	rs781406064	Uncertain significance	Congenital hypothyroidism;Hyperthyroidism, nonautoimmune	RCV000324461;RCV000267339	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0010308;ORPHA442;190268003;MedGen;609152;ORPHA424	criteria provided, single submitter	tagSNP	rs781406064
Clinvar_Rec_9233	rs61266735	Likely benign	Congenital hypothyroidism;Hyperthyroidism, nonautoimmune	RCV000369106;RCV000330876	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0010308;ORPHA442;190268003;MedGen;609152;ORPHA424	criteria provided, single submitter	tagSNP	rs61266735
Clinvar_Rec_9234	rs78187751	Benign/Likely benign, other	Galactosylceramide beta-galactosidase deficiency;not provided;not specified	RCV000340530;RCV000675262;RCV000078206	MedGen;OMIM;Orphanet;SNOMED CT	C0023521;245200;ORPHA487;192782005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34362748
Clinvar_Rec_9235	rs78187751	Benign/Likely benign	Galactosylceramide beta-galactosidase deficiency;not provided;not specified	RCV000286631;RCV000675268;RCV000078207	MedGen;OMIM;Orphanet;SNOMED CT	C0023521;245200;ORPHA487;192782005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs111976362
Clinvar_Rec_9236	rs78187751	Benign/Likely benign	Galactosylceramide beta-galactosidase deficiency;not provided;not specified	RCV000322914;RCV000675270;RCV000078205	MedGen;OMIM;Orphanet;SNOMED CT	C0023521;245200;ORPHA487;192782005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs111887056
Clinvar_Rec_9237	rs78187751	Benign/Likely benign	Galactosylceramide beta-galactosidase deficiency;not provided;not specified	RCV000282939;RCV000675273;RCV000078202	MedGen;OMIM;Orphanet;SNOMED CT	C0023521;245200;ORPHA487;192782005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112992946
Clinvar_Rec_9238	rs3736860	Likely benign	Autosomal recessive cerebellar ataxia	RCV000399882	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	LD derived	rs35439694
Clinvar_Rec_9239	rs3736860	Likely benign	Autosomal recessive cerebellar ataxia	RCV000339822	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	LD derived	rs34004710
Clinvar_Rec_9240	rs3736860	Likely benign	Autosomal recessive cerebellar ataxia	RCV000394018	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	LD derived	rs34923595
Clinvar_Rec_9241	rs3736860	Likely benign	Autosomal recessive cerebellar ataxia	RCV000304913	MedGen;Orphanet	CN226644;ORPHA1172	criteria provided, single submitter	LD derived	rs35944390
Clinvar_Rec_9242	rs748645116	Conflicting interpretations of pathogenicity	Achondrogenesis;not provided	RCV000344408;RCV000916119	MedGen;Orphanet	C0001079;ORPHA932;MedGen	criteria provided, conflicting interpretations	tagSNP	rs748645116
Clinvar_Rec_9243	rs1053206465	Pathogenic	Achondrogenesis, type IA	RCV000707638	MedGen;OMIM;Orphanet;SNOMED CT	C0265273;200600;ORPHA93299;42725006	criteria provided, single submitter	tagSNP	rs1053206465
Clinvar_Rec_9244	rs745959376	Uncertain significance	Achondrogenesis;Achondrogenesis, type IA	RCV000279246;RCV000793388	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0001079;ORPHA932;MedGen;200600;ORPHA93299;42725006	criteria provided, multiple submitters, no conflicts	tagSNP	rs745959376
Clinvar_Rec_9245	rs12895357	Benign/Likely benign	Azorean disease;not specified	RCV000191937;RCV000116485	MedGen;OMIM;Orphanet;SNOMED CT	C0024408;109150;ORPHA98757;91952008;MedGen	no assertion criteria provided	tagSNP	rs12895357
Clinvar_Rec_9246	rs139136785	Uncertain significance	Alpha-1-antitrypsin deficiency	RCV000393891	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, single submitter	tagSNP	rs139136785
Clinvar_Rec_9247	rs886050922	Uncertain significance	Alpha-1-antitrypsin deficiency	RCV000279804	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, single submitter	tagSNP	rs886050922
Clinvar_Rec_9248	rs141095970	Likely benign	Alpha-1-antitrypsin deficiency	RCV000205552	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, single submitter	tagSNP	rs141095970
Clinvar_Rec_9249	rs1049800	Benign/Likely benign	Alpha-1-antitrypsin deficiency;not specified	RCV000290083;RCV000151831	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1049800
Clinvar_Rec_9250	rs749295615	Likely benign	Alpha-1-antitrypsin deficiency	RCV000508868	MedGen;OMIM;Orphanet;SNOMED CT	C0221757;613490;ORPHA60;30188007	criteria provided, single submitter	tagSNP	rs749295615
Clinvar_Rec_9251	rs367886003	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001022994;RCV000538985	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs555975437
Clinvar_Rec_9252	rs188609628	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573625;RCV000229393	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs188609628
Clinvar_Rec_9253	rs1555369332	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571322	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555369332
Clinvar_Rec_9254	rs1566767059	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome	RCV000699923	MedGen;OMIM	CN072455;601200	criteria provided, single submitter	tagSNP	rs1566767059
Clinvar_Rec_9255	rs758829946	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000654469;RCV001011743	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs758829946
Clinvar_Rec_9256	rs748703376	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001027076;RCV000557859	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748703376
Clinvar_Rec_9257	rs1555375347	Likely benign	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000547705;RCV000568356	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555375347
Clinvar_Rec_9258	rs566464225	Uncertain significance	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome	RCV000558887;RCV000576081	MedGen;OMIM;Orphanet;SNOMED CT	CN072455;601200;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs566464225
Clinvar_Rec_9259	rs1555376553	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001018349;RCV000551209	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555376553
Clinvar_Rec_9260	rs147895636	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001023481;RCV000226152	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs145027662
Clinvar_Rec_9261	rs713993043	Pathogenic	Spinal muscular atrophy	RCV000149554	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0026847;5262007	criteria provided, single submitter	tagSNP	rs713993043
Clinvar_Rec_9262	rs713993043	Uncertain significance	Autosomal dominant distal hereditary motor neuropathy;not provided;not specified	RCV000789731;RCV000726892;RCV000193618	MedGen;Orphanet	CN263134;ORPHA140465;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs713993043
Clinvar_Rec_9263	rs1002689170	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000703636	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs1002689170
Clinvar_Rec_9264	rs149902566	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified	RCV000392853;RCV000719825;RCV000349257;RCV000294357;RCV000649643;RCV000601948	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149902566
Clinvar_Rec_9265	rs1567006266	Uncertain significance	History of neurodevelopmental disorder	RCV000717788	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1567006266
Clinvar_Rec_9266	rs8010870	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified	RCV000321955;RCV000715428;RCV000384199;RCV000263981;RCV000116924	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8010870
Clinvar_Rec_9267	rs8010870	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified	RCV000406875;RCV000715439;RCV000289125;RCV000344132;RCV000116915	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12893215
Clinvar_Rec_9268	rs1555412242	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000555198	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs1555412242
Clinvar_Rec_9269	rs13749	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified	RCV000347200;RCV000715440;RCV000282815;RCV000377353;RCV000116909	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs13749
Clinvar_Rec_9270	rs781130520	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000534318	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs781130520
Clinvar_Rec_9271	rs750353606	Likely benign	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000649557	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs750353606
Clinvar_Rec_9272	rs1060499740	Likely pathogenic	Intellectual disability;Microcephaly;Seizures	RCV000454213;RCV000454213;RCV000454213	Human Phenotype Ontology;MedGen;MedGen;MedGen	HP;C1843367;Human Phenotype Ontology;C4551563;Human Phenotype Ontology;C0036572	criteria provided, single submitter	tagSNP	rs1060499740
Clinvar_Rec_9273	rs772475317	Uncertain significance	Cobalamin deficiency;Megaloblastic anemia	RCV000626969;RCV000626969	Human Phenotype Ontology;MedGen;SNOMED CT;MedGen	HP;C0042847;190634004;Human Phenotype Ontology;C0002888	criteria provided, single submitter	tagSNP	rs772475317
Clinvar_Rec_9274	rs376942822	Uncertain significance	Focal segmental glomerulosclerosis	RCV000393663	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs376942822
Clinvar_Rec_9275	rs754128624	Uncertain significance	Focal segmental glomerulosclerosis	RCV000337305	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs754128624
Clinvar_Rec_9276	rs750104452	Likely benign	Cowden syndrome 6	RCV000651063	MedGen;OMIM	C3554519;615109	criteria provided, single submitter	tagSNP	rs750104452
Clinvar_Rec_9277	rs80135925	Likely benign	Autism spectrum disorder	RCV000335499	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs80135925
Clinvar_Rec_9278	rs1555389575	Likely benign	Angelman syndrome	RCV000633508	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	criteria provided, single submitter	tagSNP	rs1555389575
Clinvar_Rec_9279	rs587781223	Pathogenic	Angelman syndrome	RCV000144297	MedGen;OMIM;Orphanet;SNOMED CT	C0162635;105830;ORPHA72;76880004	no assertion criteria provided	tagSNP	rs587781223
Clinvar_Rec_9280	rs775988401	Uncertain significance	Epilepsy, childhood absence 1;Epilepsy, childhood absence 5	RCV000646105;RCV000646105	MedGen;OMIM;OMIM	C1838604;600131;MedGen;612269	criteria provided, single submitter	tagSNP	rs775988401
Clinvar_Rec_9281	rs61738394	Conflicting interpretations of pathogenicity	Tyrosinase-positive oculocutaneous albinism;not provided	RCV000501419;RCV000727245	MedGen;OMIM;Orphanet;SNOMED CT	C0268495;203200;ORPHA79432;26336006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61738394
Clinvar_Rec_9282	rs1555444543	Pathogenic	Neoplasm of the breast	RCV000437067	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D001943;C1458155;ORPHA180250;126926005	no assertion criteria provided	tagSNP	rs1555444543
Clinvar_Rec_9283	rs200626726	Uncertain significance	Congenital Stationary Night Blindness, Recessive	RCV000351454	MedGen	CN239273	criteria provided, single submitter	tagSNP	rs200626726
Clinvar_Rec_9284	rs182972491	Conflicting interpretations of pathogenicity	Inborn genetic diseases;not provided	RCV000623446;RCV000529288	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182972491
Clinvar_Rec_9285	rs1441405400	Uncertain significance	Epileptic encephalopathy	RCV000702755	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1441405400
Clinvar_Rec_9286	rs369246005	Uncertain significance	Epileptic encephalopathy	RCV000694153	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs369246005
Clinvar_Rec_9287	rs750201337	Uncertain significance	Epileptic encephalopathy	RCV000692697	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs750201337
Clinvar_Rec_9288	rs768358263	Uncertain significance	Epileptic encephalopathy	RCV000546573	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs768358263
Clinvar_Rec_9289	rs117474814	Benign	Epileptic encephalopathy	RCV000547748	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs75286462
Clinvar_Rec_9290	rs117474814	Benign	Epileptic encephalopathy	RCV000542162	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs79305633
Clinvar_Rec_9291	rs201908377	Benign	Epileptic encephalopathy	RCV000547748	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs75286462
Clinvar_Rec_9292	rs201908377	Benign	Epileptic encephalopathy	RCV000542162	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs79305633
Clinvar_Rec_9293	rs186888172	Conflicting interpretations of pathogenicity	Agenesis of the corpus callosum with peripheral neuropathy;not provided	RCV000387096;RCV000948244	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496;MedGen	criteria provided, conflicting interpretations	tagSNP	rs186888172
Clinvar_Rec_9294	rs1057517109	Likely pathogenic	Agenesis of the corpus callosum with peripheral neuropathy	RCV000411830	MedGen;OMIM;Orphanet	C0795950;218000;ORPHA1496	criteria provided, single submitter	tagSNP	rs1057517109
Clinvar_Rec_9295	rs886051087	Uncertain significance	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000266940;RCV000302676;RCV000359293;RCV000324455;RCV000263874	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0018817;ORPHA1478;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	tagSNP	rs886051087
Clinvar_Rec_9296	rs886051088	Uncertain significance	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000330984;RCV000295915;RCV000334492;RCV000387883;RCV000406943	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0018817;ORPHA1478;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	tagSNP	rs886051088
Clinvar_Rec_9297	rs1555418919	Uncertain significance	Cardiovascular phenotype	RCV000617708	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555418919
Clinvar_Rec_9298	rs541463413	Uncertain significance	Atrial septal defect;Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy	RCV000360169;RCV000337845;RCV000280418;RCV000405824;RCV000303112	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0018817;ORPHA1478;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133	criteria provided, single submitter	LD derived	rs551820554
Clinvar_Rec_9299	rs1401171363	Pathogenic	Mosaic variegated aneuploidy syndrome	RCV000705022	MedGen;Orphanet	C1850343;ORPHA1052	criteria provided, single submitter	tagSNP	rs1401171363
Clinvar_Rec_9300	rs1407997977	Uncertain significance	Keratoconus	RCV000678673	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0022578;65636009	no assertion criteria provided	tagSNP	rs1407997977
Clinvar_Rec_9301	rs1555405428	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	RCV000666290	MedGen;OMIM;Orphanet;SNOMED CT	C0268575;243500;ORPHA33;87827003	criteria provided, single submitter	tagSNP	rs1555405428
Clinvar_Rec_9302	rs548855488	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;not provided;not specified	RCV000282863;RCV000908421;RCV000483967	MedGen	CN239428;MedGen	criteria provided, conflicting interpretations	LD derived	rs201037775
Clinvar_Rec_9303	rs6493032	Conflicting interpretations of pathogenicity	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided;not specified	RCV000314855;RCV000362522;RCV000711022;RCV000078101	MedGen;OMIM;Orphanet	CN239352;MedGen;253600;ORPHA267;MedGen	criteria provided, conflicting interpretations	LD derived	rs28364364
Clinvar_Rec_9304	rs7497367	Benign/Likely benign	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided;not specified	RCV000365906;RCV000265929;RCV000710096;RCV000078104	MedGen;OMIM;Orphanet	CN239352;MedGen;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1801496
Clinvar_Rec_9305	rs764247865	Uncertain significance	Limb-girdle muscular dystrophy, type 2A	RCV000696317	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267	criteria provided, single submitter	tagSNP	rs764247865
Clinvar_Rec_9306	rs797045427	Pathogenic	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000192648;RCV000790660	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797045427
Clinvar_Rec_9307	rs747026964	Conflicting interpretations of pathogenicity	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000675143;RCV000440617	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, conflicting interpretations	tagSNP	rs747026964
Clinvar_Rec_9308	rs746935735	Pathogenic/Likely pathogenic	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000310267;RCV000725864	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746935735
Clinvar_Rec_9309	rs1555420629	Uncertain significance	Limb-girdle muscular dystrophy, type 2A	RCV000671789	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267	criteria provided, single submitter	tagSNP	rs1555420629
Clinvar_Rec_9310	rs776059672	Pathogenic/Likely pathogenic	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000365092;RCV000725535	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776059672
Clinvar_Rec_9311	rs752483058	Uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided;not specified	RCV000302680;RCV000358682;RCV000725159;RCV000406817	MedGen;OMIM;Orphanet	CN239352;MedGen;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752483058
Clinvar_Rec_9312	rs863224957	Pathogenic	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000201199;RCV000516176	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224957
Clinvar_Rec_9313	rs557164942	Uncertain significance	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000669446;RCV000267747	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs557164942
Clinvar_Rec_9314	rs557164942	Pathogenic/Likely pathogenic	Limb-girdle muscular dystrophy, type 2A;not provided	RCV000201107;RCV000173976	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs557164942
Clinvar_Rec_9315	rs1555422829	Uncertain significance	Limb-girdle muscular dystrophy, type 2A	RCV000673836	MedGen;OMIM;Orphanet	C1869123;253600;ORPHA267	criteria provided, single submitter	tagSNP	rs1555422829
Clinvar_Rec_9316	rs3742988	Benign	Congenital dyserythropoietic anemia	RCV000354833	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs3742988
Clinvar_Rec_9317	rs537770681	Conflicting interpretations of pathogenicity	Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided	RCV000311434;RCV000408139;RCV000339965	MedGen;OMIM;Orphanet	CN239352;MedGen;253600;ORPHA267;MedGen	criteria provided, conflicting interpretations	LD derived	rs201607149
Clinvar_Rec_9318	rs148074362	Uncertain significance	Congenital dyserythropoietic anemia	RCV000399435	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs148074362
Clinvar_Rec_9319	rs200125366	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000400925	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs200125366
Clinvar_Rec_9320	rs114395814	Uncertain significance	Spherocytosis type 5;Spherocytosis, Recessive	RCV000756092;RCV000327977	MedGen;OMIM	C2675192;612690;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114354377
Clinvar_Rec_9321	rs775832353	Uncertain significance	Spherocytosis type 5	RCV000778430	MedGen;OMIM	C2675192;612690	criteria provided, single submitter	tagSNP	rs775832353
Clinvar_Rec_9322	rs45594632	Conflicting interpretations of pathogenicity	Spherocytosis, Recessive;not provided;not specified	RCV000296485;RCV000899320;RCV000249237	MedGen	CN239472;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45594632
Clinvar_Rec_9323	rs794726855	Pathogenic	Microcephaly and chorioretinopathy, autosomal recessive, 3	RCV000170358	MedGen;OMIM	C4225362;616335	criteria provided, single submitter	tagSNP	rs794726855
Clinvar_Rec_9324	rs727503442	Pathogenic	Rare genetic deafness	RCV000151941	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs727503442
Clinvar_Rec_9325	rs312262778	Pathogenic	Spastic paraplegia 11, autosomal recessive	RCV000034243	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	no assertion criteria provided	tagSNP	rs312262778
Clinvar_Rec_9326	rs771057519	Likely pathogenic	Spastic paraplegia 11, autosomal recessive	RCV000656403	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs771057519
Clinvar_Rec_9327	rs145195036	Uncertain significance	Spastic paraplegia 11, autosomal recessive	RCV000642557	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822	criteria provided, single submitter	tagSNP	rs145195036
Clinvar_Rec_9328	rs312262737	Pathogenic/Likely pathogenic	Spastic paraplegia 11, autosomal recessive;not provided	RCV000034186;RCV000414282	MedGen;OMIM;Orphanet	C1858479;604360;ORPHA2822;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs312262737
Clinvar_Rec_9329	rs201875705	Uncertain significance	Amyotrophic lateral sclerosis type 5;Charcot-Marie-Tooth disease, axonal type 2X;Spastic Paraplegia, Recessive;Spastic paraplegia 11, autosomal recessive;Spastic paraplegia 11, autosomal recessive	RCV000765213;RCV000765213;RCV000293471;RCV000642528;RCV000765213	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1865864;602099;MedGen;616668;ORPHA466775;MedGen;604360;ORPHA2822;MedGen;604360;ORPHA2822	criteria provided, multiple submitters, no conflicts	tagSNP	rs201875705
Clinvar_Rec_9330	rs111613241	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000310693;RCV000957271	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs79480907
Clinvar_Rec_9331	rs111613241	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000283314;RCV000957273	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs76681174
Clinvar_Rec_9332	rs2576092	Benign	Thyroglobulin synthesis defect;not specified	RCV000615032;RCV000252536	MedGen;OMIM;SNOMED CT	C0342196;274900;63127008;MedGen	criteria provided, single submitter	tagSNP	rs2576092
Clinvar_Rec_9333	rs150014419	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000376628;RCV000913261	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs140393165
Clinvar_Rec_9334	rs150014419	Conflicting interpretations of pathogenicity	Congenital hypothyroidism;not provided	RCV000361180;RCV000913262	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen	criteria provided, conflicting interpretations	LD derived	rs144100380
Clinvar_Rec_9335	rs1057519608	Pathogenic	Bartter syndrome, type 1, antenatal	RCV000009299	MedGen;OMIM	C1866495;601678	no assertion criteria provided	tagSNP	rs1057519608
Clinvar_Rec_9336	rs768048553	Uncertain significance	Antenatal Bartter Syndrome	RCV000338977	MedGen;Orphanet	CN239220;ORPHA93604	criteria provided, single submitter	tagSNP	rs768048553
Clinvar_Rec_9337	rs1057520303	Pathogenic	Bartter syndrome, type 1, antenatal	RCV000438920	MedGen;OMIM	C1866495;601678	no assertion criteria provided	tagSNP	rs1057520303
Clinvar_Rec_9338	rs1060501033	Likely pathogenic	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000474560;RCV000474560	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1060501033
Clinvar_Rec_9339	rs1566893398	Uncertain significance	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000689037;RCV000689037	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1566893398
Clinvar_Rec_9340	rs1555394776	Likely pathogenic	Marfan syndrome	RCV000663901	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555394776
Clinvar_Rec_9341	rs1555394777	Likely pathogenic	Marfan syndrome	RCV000663900	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555394777
Clinvar_Rec_9342	rs886039047	Likely pathogenic	Cardiovascular phenotype	RCV000253122	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039047
Clinvar_Rec_9343	rs1057520617	Pathogenic	Marfan syndrome;not provided	RCV000663899;RCV000443127	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen	criteria provided, single submitter	tagSNP	rs1057520617
Clinvar_Rec_9344	rs1555394779	Likely pathogenic	Marfan syndrome	RCV000663898	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555394779
Clinvar_Rec_9345	rs794728250	Uncertain significance	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000796054;RCV000796054;RCV000181568	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728250
Clinvar_Rec_9346	rs76702162	Uncertain significance	Cardiovascular phenotype;not provided	RCV000246337;RCV000589021	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76702162
Clinvar_Rec_9347	rs113080385	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000774383	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs113080385
Clinvar_Rec_9348	rs113080385	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000618707;RCV000631937;RCV000995545;RCV000631937;RCV000035244	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs113080385
Clinvar_Rec_9349	rs1566896070	Likely pathogenic	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000692287;RCV000692287	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1566896070
Clinvar_Rec_9350	rs137854461	Pathogenic	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000017893;RCV000524502;RCV000524502	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, multiple submitters, no conflicts	tagSNP	rs137854461
Clinvar_Rec_9351	rs1555395203	Likely pathogenic	Marfan syndrome	RCV000663869	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555395203
Clinvar_Rec_9352	rs794728249	Pathogenic/Likely pathogenic	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000820661;RCV000820661;RCV000181566	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728249
Clinvar_Rec_9353	rs61730051	Benign/Likely benign	Acromicric dysplasia;Cardiovascular phenotype;Ectopia lentis;Geleophysic dysplasia;MASS syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome;not provided;not specified	RCV000316466;RCV000617081;RCV000319265;RCV000264091;RCV000373958;RCV000267504;RCV000260675;RCV000244099;RCV000304002;RCV000755531;RCV000154528	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;C0013581;ORPHA1885;74969002;MedGen;ORPHA2623;MedGen;604308;ORPHA99715;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;ORPHA3449;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61730051
Clinvar_Rec_9354	rs886038964	Uncertain significance	Cardiovascular phenotype	RCV000247656	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038964
Clinvar_Rec_9355	rs886039167	Pathogenic	Cardiovascular phenotype	RCV000250779	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039167
Clinvar_Rec_9356	rs1566900492	Likely pathogenic	Thoracic aortic aneurysm and aortic dissection	RCV000769637	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1566900492
Clinvar_Rec_9357	rs111929350	Likely pathogenic	Marfan syndrome	RCV000663792	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs111929350
Clinvar_Rec_9358	rs111929350	Pathogenic/Likely pathogenic	Marfan syndrome;not provided	RCV000035227;RCV000181545	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111929350
Clinvar_Rec_9359	rs111929350	Likely pathogenic	Marfan syndrome	RCV000233105	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs111929350
Clinvar_Rec_9360	rs1555396198	Likely pathogenic	Marfan syndrome	RCV000663791	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555396198
Clinvar_Rec_9361	rs1555396198	Pathogenic	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000663790;RCV000690179;RCV000690179	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1555396198
Clinvar_Rec_9362	rs137854459	Pathogenic	Marfan syndrome	RCV000017888	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs137854459
Clinvar_Rec_9363	rs794728225	Uncertain significance	Cardiovascular phenotype	RCV000620218	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs794728225
Clinvar_Rec_9364	rs1555397210	Pathogenic	Marfan syndrome	RCV000663734	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555397210
Clinvar_Rec_9365	rs397515810	Pathogenic/Likely pathogenic	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000035203;RCV000538495;RCV000538495	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515810
Clinvar_Rec_9366	rs111978932	Likely pathogenic	Marfan syndrome	RCV000663727	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs111978932
Clinvar_Rec_9367	rs111978932	Likely pathogenic	Marfan syndrome	RCV000232283	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs111978932
Clinvar_Rec_9368	rs730880101	Pathogenic	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000157228;RCV000705056;RCV000705056	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs730880101
Clinvar_Rec_9369	rs145040593	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000619080;RCV000726078;RCV000297607	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145040593
Clinvar_Rec_9370	rs145040593	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000617244;RCV000726081;RCV000277311	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs377036485
Clinvar_Rec_9371	rs61730054	Conflicting interpretations of pathogenicity	Acromicric dysplasia;Cardiovascular phenotype;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2;not provided;not specified	RCV000515317;RCV000617953;RCV000515317;RCV000515317;RCV000515317;RCV000515317;RCV000029736;RCV000515317;RCV000515317;RCV000515317;RCV000724063;RCV000035201	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;129600;MedGen;614185;MedGen;604308;ORPHA99715;MedGen;616914;ORPHA300382;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;608328;ORPHA2084;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61730054
Clinvar_Rec_9372	rs869025407	Uncertain significance	Marfan syndrome	RCV000208479	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs869025407
Clinvar_Rec_9373	rs767462642	Likely benign	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000632042;RCV000632042;RCV000508134	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767462642
Clinvar_Rec_9374	rs397515808	Likely pathogenic	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000035200;RCV000610340	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs397515808
Clinvar_Rec_9375	rs587782946	Likely pathogenic	Marfan syndrome	RCV000143893	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs587782946
Clinvar_Rec_9376	rs397515788	Pathogenic	Marfan syndrome	RCV000035165	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs397515788
Clinvar_Rec_9377	rs140583	Pathogenic	Acromicric dysplasia;Cardiovascular phenotype;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan lipodystrophy syndrome;Marfan syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome 2;not provided;not specified	RCV000767971;RCV000620881;RCV000767971;RCV000767971;RCV000767971;RCV000590228;RCV000767971;RCV000663557;RCV000767971;RCV000810561;RCV000767971;RCV000614836;RCV000810561;RCV000767971;RCV000254863;RCV000507994	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;OMIM;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;129600;MedGen;614185;MedGen;604308;ORPHA99715;MedGen;616914;ORPHA300382;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;ORPHA91387;MedGen;608328;ORPHA2084;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140583
Clinvar_Rec_9378	rs886039058	Uncertain significance	Cardiovascular phenotype	RCV000242266	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039058
Clinvar_Rec_9379	rs1566913974	Pathogenic	Marfan syndrome	RCV000678260	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1566913974
Clinvar_Rec_9380	rs193922182	Likely pathogenic	Marfan syndrome	RCV000029698	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs193922182
Clinvar_Rec_9381	rs193922183	Likely pathogenic	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000697350;RCV000697350	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs193922183
Clinvar_Rec_9382	rs193922183	Likely pathogenic	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome	RCV000589677;RCV000029699	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	CN229799;MedGen;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs193922183
Clinvar_Rec_9383	rs1555400049	Pathogenic	Marfan syndrome	RCV000663483	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555400049
Clinvar_Rec_9384	rs141551765	Uncertain significance	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000631999;RCV000631999;RCV000035124	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141551765
Clinvar_Rec_9385	rs775505429	Uncertain significance	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	RCV001066350;RCV001066350;RCV000523557	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775505429
Clinvar_Rec_9386	rs1555405036	Uncertain significance	Marfan syndrome	RCV000663705	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555405036
Clinvar_Rec_9387	rs886039132	Uncertain significance	Cardiovascular phenotype;not provided	RCV000252789;RCV000589289	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039132
Clinvar_Rec_9388	rs199777941	Conflicting interpretations of pathogenicity	Primary Microcephaly, Recessive;Seckel syndrome;not specified	RCV000293855;RCV000332504;RCV000425680	MedGen;Orphanet;SNOMED CT	CN239428;MedGen;ORPHA808;57917004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199777941
Clinvar_Rec_9389	rs1567024512	Likely pathogenic	Primary autosomal recessive microcephaly 9	RCV000761263	MedGen;OMIM	C3553886;614852	criteria provided, single submitter	tagSNP	rs1567024512
Clinvar_Rec_9390	rs2289181	Benign/Likely benign	Primary Microcephaly, Recessive;Seckel syndrome;not specified	RCV000303870;RCV000267391;RCV000145597	MedGen;Orphanet;SNOMED CT	CN239428;MedGen;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2289181
Clinvar_Rec_9391	rs2306331	Benign	Spastic paraplegia 51, autosomal recessive;not specified	RCV000600841;RCV000116365	MedGen;OMIM	C3151056;613744;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2306331
Clinvar_Rec_9392	rs2306331	Benign	Spastic paraplegia 51, autosomal recessive;not specified	RCV000611171;RCV000421665	MedGen;OMIM	C3151056;613744;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1147129
Clinvar_Rec_9393	rs773902879	Pathogenic	Intellectual developmental disorder with cardiac arrhythmia	RCV000258819	MedGen;OMIM;Orphanet	C4310682;617173;ORPHA542306	no assertion criteria provided	tagSNP	rs773902879
Clinvar_Rec_9394	rs74015392	Likely benign	Amelogenesis Imperfecta, Recessive	RCV000302451	MedGen	CN239209	criteria provided, single submitter	tagSNP	rs74015392
Clinvar_Rec_9395	rs150463407	Uncertain significance	Griscelli syndrome type 2	RCV000644919	MedGen;OMIM;Orphanet	C1868679;607624;ORPHA79477	criteria provided, single submitter	tagSNP	rs150463407
Clinvar_Rec_9396	rs1566964956	Likely benign	Cardiomyopathy	RCV000774134	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1566964956
Clinvar_Rec_9397	rs397516390	Uncertain significance	Hypertrophic cardiomyopathy;not specified	RCV000822102;RCV000036361	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516390
Clinvar_Rec_9398	rs34925488	Benign	Abnormality of neuronal migration	RCV000201410	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs34925488
Clinvar_Rec_9399	rs886039912	Uncertain significance	Osteogenesis imperfecta	RCV000256409	MeSH;MedGen;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001	no assertion criteria provided	tagSNP	rs886039912
Clinvar_Rec_9400	rs137853866	Pathogenic	Osteogenesis imperfecta type 9;not provided	RCV000202406;RCV000024538	MedGen;OMIM	C1850169;259440;MedGen	no assertion criteria provided	tagSNP	rs137853866
Clinvar_Rec_9401	rs112481305	Benign/Likely benign	Osteogenesis Imperfecta, Recessive;not provided;not specified	RCV000297521;RCV000834505;RCV000733921	MedGen	CN239451;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112481305
Clinvar_Rec_9402	rs112481305	Likely benign	Osteogenesis Imperfecta, Recessive	RCV000308315	MedGen	CN239451	criteria provided, single submitter	LD derived	rs202080377
Clinvar_Rec_9403	rs112481305	Benign/Likely benign	Osteogenesis Imperfecta, Recessive;not provided	RCV000354746;RCV000834504	MedGen	CN239451;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113066141
Clinvar_Rec_9404	rs587777417	Likely pathogenic	Combined oxidative phosphorylation deficiency 15;not provided	RCV000119835;RCV000513541	MedGen;OMIM;Orphanet	C3554182;614947;ORPHA319524;MedGen	criteria provided, single submitter	tagSNP	rs587777417
Clinvar_Rec_9405	rs184130258	Benign/Likely benign	Nemaline Myopathy, Dominant;not provided	RCV000348769;RCV000540084	MedGen	CN239448;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs184130258
Clinvar_Rec_9406	rs184130258	Likely benign	Nemaline Myopathy, Dominant;not provided;not specified	RCV000397511;RCV000552503;RCV000611267	MedGen	CN239448;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs367684457
Clinvar_Rec_9407	rs184130258	Likely benign	Nemaline Myopathy, Dominant;not provided;not specified	RCV000355452;RCV000554911;RCV000600035	MedGen	CN239448;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs188146580
Clinvar_Rec_9408	rs60181833	Benign/Likely benign	Congenital Stationary Night Blindness, Recessive;not specified	RCV000379969;RCV000246072	MedGen	CN239273;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35571449
Clinvar_Rec_9409	rs60181833	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000335250	MedGen	CN239273	criteria provided, single submitter	LD derived	rs62014379
Clinvar_Rec_9410	rs60181833	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000276006	MedGen	CN239273	criteria provided, single submitter	LD derived	rs62014380
Clinvar_Rec_9411	rs140749690	Likely benign	Rasopathy;not provided;not specified	RCV000523509;RCV000867734;RCV000154751	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs140749690
Clinvar_Rec_9412	rs1057519822	Likely pathogenic	Neoplasm	RCV000422017	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;D009369;C0027651;108369006	no assertion criteria provided	tagSNP	rs1057519822
Clinvar_Rec_9413	rs17586159	Benign	Rasopathy;not provided;not specified	RCV000205637;RCV000857579;RCV000037599	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs17586159
Clinvar_Rec_9414	rs373745627	Likely benign	Rasopathy;not specified	RCV000655000;RCV000037600	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373745627
Clinvar_Rec_9415	rs78851379	Benign	Loeys-Dietz syndrome 3	RCV000470932	MedGen;OMIM;Orphanet	C3151087;613795;ORPHA284984	criteria provided, single submitter	LD derived	rs144415105
Clinvar_Rec_9416	rs1566999423	Likely pathogenic	Thoracic aortic aneurysm and aortic dissection	RCV000766259	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1566999423
Clinvar_Rec_9417	rs886038899	Uncertain significance	Cardiovascular phenotype	RCV000251846	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038899
Clinvar_Rec_9418	rs3743342	Benign	Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000310507;RCV000392613	MedGen;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs3743342
Clinvar_Rec_9419	rs376835316	Conflicting interpretations of pathogenicity	Adult neuronal ceroid lipofuscinosis;Seizures;not provided;not specified	RCV000515438;RCV000718308;RCV000766779;RCV000187111	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0022797;204300;ORPHA79262;62009002;Human Phenotype Ontology;C0036572;MedGen	criteria provided, conflicting interpretations	LD derived	rs547125345
Clinvar_Rec_9420	rs532777496	Conflicting interpretations of pathogenicity	Tay-Sachs disease;not provided	RCV000670546;RCV000865978	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000;MedGen	criteria provided, conflicting interpretations	LD derived	rs575121167
Clinvar_Rec_9421	rs1800430	Benign/Likely benign	Tay-Sachs disease;not provided;not specified	RCV000399795;RCV000224180;RCV000079048	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800430
Clinvar_Rec_9422	rs149661366	Likely benign	Tay-Sachs disease	RCV000505698	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	criteria provided, single submitter	tagSNP	rs149661366
Clinvar_Rec_9423	rs148843256	Uncertain significance	Bardet-Biedl syndrome	RCV000308526	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, multiple submitters, no conflicts	tagSNP	rs148843256
Clinvar_Rec_9424	rs372243234	Uncertain significance	Brugada syndrome 8	RCV000456499	MedGen;OMIM	C2751083;613123	criteria provided, single submitter	tagSNP	rs372243234
Clinvar_Rec_9425	rs1555475226	Uncertain significance	Brugada syndrome 8	RCV000530801	MedGen;OMIM	C2751083;613123	criteria provided, single submitter	tagSNP	rs1555475226
Clinvar_Rec_9426	rs758371313	Uncertain significance	Brugada syndrome 8	RCV000471705	MedGen;OMIM	C2751083;613123	criteria provided, single submitter	tagSNP	rs758371313
Clinvar_Rec_9427	rs201652877	Likely benign	Cardiovascular phenotype;not provided	RCV000621119;RCV000647274	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201652877
Clinvar_Rec_9428	rs764646636	Likely benign	Cardiovascular phenotype	RCV000244404	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs764646636
Clinvar_Rec_9429	rs117731813	Benign	Brugada syndrome 8;Cardiovascular phenotype;not specified	RCV000460309;RCV000617906;RCV000125351	MedGen;OMIM	C2751083;613123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117731813
Clinvar_Rec_9430	rs1370522527	Uncertain significance	Brugada syndrome 8	RCV000539939	MedGen;OMIM	C2751083;613123	criteria provided, single submitter	tagSNP	rs1370522527
Clinvar_Rec_9431	rs886041121	Likely pathogenic	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	RCV000327432	MedGen;OMIM;Orphanet	C3151055;613743;ORPHA168558	criteria provided, single submitter	tagSNP	rs886041121
Clinvar_Rec_9432	rs6161	Conflicting interpretations of pathogenicity	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete;not provided	RCV000989359;RCV000413593	MedGen;OMIM;Orphanet	C3151055;613743;ORPHA168558;MedGen	criteria provided, conflicting interpretations	tagSNP	rs6161
Clinvar_Rec_9433	rs4986873	Likely benign	Congenital Adrenal Insufficiency	RCV000371848	MedGen	C3502131	criteria provided, single submitter	tagSNP	rs4986873
Clinvar_Rec_9434	rs1060499732	Uncertain significance	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete	RCV000475687	MedGen;OMIM;Orphanet	C3151055;613743;ORPHA168558	criteria provided, single submitter	tagSNP	rs1060499732
Clinvar_Rec_9435	rs79613336	Benign/Likely benign	Congenital disorder of glycosylation;MPI-CDG;not specified	RCV000275735;RCV000540964;RCV000080016	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;602579;ORPHA79319;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12440159
Clinvar_Rec_9436	rs1555479551	Uncertain significance	MPI-CDG	RCV000536635	MedGen;OMIM;Orphanet	C1865145;602579;ORPHA79319	criteria provided, single submitter	tagSNP	rs1555479551
Clinvar_Rec_9437	rs886051485	Uncertain significance	Congenital disorder of glycosylation	RCV000299815	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886051485
Clinvar_Rec_9438	rs886037847	Pathogenic	Witteveen-kolk syndrome	RCV000239460	MedGen;OMIM;Orphanet	C4310804;613406;ORPHA500166	no assertion criteria provided	tagSNP	rs886037847
Clinvar_Rec_9439	rs146799300	Benign/Likely benign	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome;not provided	RCV000301392;RCV000859437	MedGen;OMIM;Orphanet	C1858361;604416;ORPHA69126;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35677716
Clinvar_Rec_9440	rs377437961	Conflicting interpretations of pathogenicity	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome;not provided;not specified	RCV000303879;RCV000859721;RCV000412772	MedGen;OMIM;Orphanet	C1858361;604416;ORPHA69126;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377437961
Clinvar_Rec_9441	rs1555440545	Uncertain significance	Tyrosinemia type I	RCV000670957	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268490;276700;ORPHA882;124536006;410056006	criteria provided, single submitter	tagSNP	rs1555440545
Clinvar_Rec_9442	rs779642226	Likely pathogenic	Tyrosinemia type I	RCV000410205	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268490;276700;ORPHA882;124536006;410056006	criteria provided, single submitter	tagSNP	rs779642226
Clinvar_Rec_9443	rs1057516679	Likely pathogenic	Tyrosinemia type I	RCV000409617	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268490;276700;ORPHA882;124536006;410056006	criteria provided, single submitter	tagSNP	rs1057516679
Clinvar_Rec_9444	rs121965076	Pathogenic	Tyrosinemia type I	RCV000012642	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268490;276700;ORPHA882;124536006;410056006	criteria provided, single submitter	tagSNP	rs121965076
Clinvar_Rec_9445	rs767086146	Pathogenic	Galloway-Mowat syndrome 1	RCV000190489	MedGen;OMIM	C4551772;251300	no assertion criteria provided	tagSNP	rs767086146
Clinvar_Rec_9446	rs879255506	Uncertain significance	Osteochondritis dissecans	RCV000239390	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C3665488;165800;ORPHA251262;82562007	no assertion criteria provided	tagSNP	rs879255506
Clinvar_Rec_9447	rs200488706	Likely benign	Newfoundland rod-cone dystrophy;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Recessive	RCV000315538;RCV000288558;RCV000367656	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C1843815;607476;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	tagSNP	rs200488706
Clinvar_Rec_9448	rs1379405913	Pathogenic	Progressive sclerosing poliodystrophy;not provided	RCV000989373;RCV000731507	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1379405913
Clinvar_Rec_9449	rs786205626	Likely pathogenic	Bothnia retinal dystrophy;Retinal dystrophy;Retinitis punctata albescens;not provided	RCV000197318;RCV001075081;RCV001003176;RCV000171480	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT;Orphanet	C1843816;607475;ORPHA85128;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen;ORPHA52427;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786205626
Clinvar_Rec_9450	rs77431590	Likely benign	Newfoundland rod-cone dystrophy;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Recessive	RCV000301674;RCV000365778;RCV000271341	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C1843815;607476;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	LD derived	rs190236976
Clinvar_Rec_9451	rs77431590	Benign/Likely benign	Newfoundland rod-cone dystrophy;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Recessive;not provided;not specified	RCV000329645;RCV000280535;RCV000386660;RCV000896034;RCV000178076	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C1843815;607476;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77384282
Clinvar_Rec_9452	rs121918164	Uncertain significance	Fanconi anemia, complementation group I;not provided	RCV000001024;RCV000584965	MedGen;OMIM	C1836861;609053;MedGen	criteria provided, single submitter	tagSNP	rs121918164
Clinvar_Rec_9453	rs2307440	Conflicting interpretations of pathogenicity	Mitochondrial diseases;Progressive sclerosing poliodystrophy;not provided	RCV000020477;RCV000545884;RCV000513124	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0751651;ORPHA68380;MedGen;203700;ORPHA726;20415001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2307440
Clinvar_Rec_9454	rs886041276	Pathogenic	Seizures;not provided	RCV000720465;RCV000347308	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041276
Clinvar_Rec_9455	rs763290547	Uncertain significance	Progressive sclerosing poliodystrophy;not provided	RCV000758319;RCV000712799	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763290547
Clinvar_Rec_9456	rs1282521429	Pathogenic	Progressive sclerosing poliodystrophy	RCV000700867	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs1282521429
Clinvar_Rec_9457	rs760305786	Uncertain significance	Progressive sclerosing poliodystrophy;not provided	RCV000814974;RCV000188566	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760305786
Clinvar_Rec_9458	rs908875872	Uncertain significance	Progressive sclerosing poliodystrophy;not provided	RCV000758442;RCV000733916	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs908875872
Clinvar_Rec_9459	rs148658588	Benign/Likely benign	Progressive sclerosing poliodystrophy;not provided;not specified	RCV000534504;RCV000858666;RCV000127566	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148658588
Clinvar_Rec_9460	rs1567191474	Pathogenic	Progressive sclerosing poliodystrophy	RCV000758436	MedGen;OMIM;Orphanet;SNOMED CT	C0205710;203700;ORPHA726;20415001	criteria provided, single submitter	tagSNP	rs1567191474
Clinvar_Rec_9461	rs74407840	Conflicting interpretations of pathogenicity	Familial partial lipodystrophy 4;not provided	RCV000785103;RCV000969373	MedGen;OMIM;Orphanet	C3151268;613877;ORPHA280356;MedGen	criteria provided, conflicting interpretations	tagSNP	rs74407840
Clinvar_Rec_9462	rs113636330	Uncertain significance	Jarcho-Levin syndrome	RCV000389611	MedGen;Orphanet;SNOMED CT	C0265343;ORPHA2311;61367005	criteria provided, single submitter	tagSNP	rs113636330
Clinvar_Rec_9463	rs778503063	Uncertain significance	Jarcho-Levin syndrome	RCV000295228	MedGen;Orphanet;SNOMED CT	C0265343;ORPHA2311;61367005	criteria provided, single submitter	tagSNP	rs778503063
Clinvar_Rec_9464	rs570515211	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000543803;RCV001022081	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs557057587
Clinvar_Rec_9465	rs367543026	Pathogenic/Likely pathogenic	Bloom syndrome	RCV000169422	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, multiple submitters, no conflicts	tagSNP	rs367543026
Clinvar_Rec_9466	rs538728271	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome	RCV000628690;RCV000565340	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs538728271
Clinvar_Rec_9467	rs201440695	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001014232;RCV000473520	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201440695
Clinvar_Rec_9468	rs201427280	Conflicting interpretations of pathogenicity	Bloom syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000543633;RCV000565904;RCV000264848	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201427280
Clinvar_Rec_9469	rs1395403568	Uncertain significance	Bloom syndrome	RCV000688420	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1395403568
Clinvar_Rec_9470	rs797045115	Likely pathogenic	Bloom syndrome	RCV000190641	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs797045115
Clinvar_Rec_9471	rs1567056762	Uncertain significance	Bloom syndrome	RCV000692961	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1567056762
Clinvar_Rec_9472	rs1022266595	Uncertain significance	Bloom syndrome	RCV000554096	MedGen;OMIM;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006	criteria provided, single submitter	tagSNP	rs1022266595
Clinvar_Rec_9473	rs181971600	Uncertain significance	Arthrogryposis with renal dysfunction and cholestasis syndrome	RCV000333257	MedGen;Orphanet;SNOMED CT	C4551984;ORPHA2697;720513002	criteria provided, single submitter	LD derived	rs561174112
Clinvar_Rec_9474	rs760894269	Uncertain significance	Arthrogryposis with renal dysfunction and cholestasis syndrome	RCV000350385	MedGen;Orphanet;SNOMED CT	C4551984;ORPHA2697;720513002	criteria provided, single submitter	tagSNP	rs760894269
Clinvar_Rec_9475	rs59648701	Benign/Likely benign	Arthrogryposis with renal dysfunction and cholestasis syndrome;not provided;not specified	RCV000383971;RCV000961014;RCV000247461	MedGen;Orphanet;SNOMED CT	C4551984;ORPHA2697;720513002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs59648701
Clinvar_Rec_9476	rs1555437424	Pathogenic	Rolandic epilepsy	RCV000656033	MedGen;Orphanet	CN417132;ORPHA1945	no assertion criteria provided	tagSNP	rs1555437424
Clinvar_Rec_9477	rs1060503517	Pathogenic	Epileptic encephalopathy, childhood-onset	RCV000465957	MedGen;OMIM	C3809278;615369	criteria provided, single submitter	tagSNP	rs1060503517
Clinvar_Rec_9478	rs864309535	Pathogenic	Epileptic encephalopathy, childhood-onset	RCV000202624	MedGen;OMIM	C3809278;615369	no assertion criteria provided	tagSNP	rs864309535
Clinvar_Rec_9479	rs759269259	Uncertain significance	Epileptic encephalopathy, childhood-onset;not provided	RCV001040292;RCV000479188	MedGen;OMIM	C3809278;615369;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759269259
Clinvar_Rec_9480	rs1555445685	Pathogenic	Inborn genetic diseases	RCV000624426	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555445685
Clinvar_Rec_9481	rs587777372	Pathogenic	Congenital heart defects, multiple types, 4	RCV000116200	MedGen;OMIM	C4014310;615779	no assertion criteria provided	tagSNP	rs587777372
Clinvar_Rec_9482	rs374057431	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000350759	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs374057431
Clinvar_Rec_9483	rs187491896	Uncertain significance	Growth delay due to insulin-like growth factor I resistance	RCV000305354	MedGen;OMIM;Orphanet	C1849157;270450;ORPHA73273	criteria provided, single submitter	tagSNP	rs187491896
Clinvar_Rec_9484	rs886050957	Uncertain significance	Weill-Marchesani syndrome 4	RCV000342992	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	tagSNP	rs886050957
Clinvar_Rec_9485	rs12440706	Benign	Weill-Marchesani syndrome 4	RCV000378982	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	tagSNP	rs12440706
Clinvar_Rec_9486	rs200766799	Uncertain significance	Weill-Marchesani syndrome 4	RCV000338990	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	tagSNP	rs200766799
Clinvar_Rec_9487	rs61752832	Likely benign	Weill-Marchesani syndrome 4	RCV000342512	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	criteria provided, single submitter	tagSNP	rs61752832
Clinvar_Rec_9488	rs1555501030	Pathogenic	Weill-Marchesani syndrome 4	RCV000584730	MedGen;OMIM;Orphanet	C2750787;613195;ORPHA363992	no assertion criteria provided	tagSNP	rs1555501030
Clinvar_Rec_9489	rs376944345	Conflicting interpretations of pathogenicity	HEMOGLOBIN HEKINAN;not provided;not specified	RCV000017047;RCV000507741;RCV001000510	na;MedGen	CN517202;MedGen	criteria provided, conflicting interpretations	LD derived	rs41530750
Clinvar_Rec_9490	rs281864881	other	HEMOGLOBIN RAMPA	RCV000016961	-	-	no assertion criteria provided	tagSNP	rs281864881
Clinvar_Rec_9491	rs33984621	other	HEMOGLOBIN DENMARK HILL	RCV000017014	-	-	no assertion criteria provided	tagSNP	rs33984621
Clinvar_Rec_9492	rs33984621	other	HEMOGLOBIN GODAVARI	RCV000017219	-	-	no assertion criteria provided	tagSNP	rs33984621
Clinvar_Rec_9493	rs63749865	other	HEMOGLOBIN JACKSON	RCV000017077	-	-	no assertion criteria provided	tagSNP	rs63749865
Clinvar_Rec_9494	rs537104593	Uncertain significance	Epilepsy, childhood absence 6;Hyperaldosteronism, familial, type IV;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000764010;RCV000635039;RCV000764010;RCV000635039	MedGen;OMIM;OMIM;OMIM;OMIM;SNOMED CT	C2749872;611942;MedGen;617027;MedGen;617027;MedGen;600669;36803009	criteria provided, multiple submitters, no conflicts	LD derived	rs539324457
Clinvar_Rec_9495	rs189158640	Uncertain significance	Myopathy, centronuclear, 4	RCV000698790	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	LD derived	rs181469519
Clinvar_Rec_9496	rs1037631909	Uncertain significance	Myopathy, centronuclear, 4	RCV000688262	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	tagSNP	rs1037631909
Clinvar_Rec_9497	rs764422260	Uncertain significance	Myopathy, centronuclear, 4	RCV000697866	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	tagSNP	rs764422260
Clinvar_Rec_9498	rs527479144	Uncertain significance	Myopathy, centronuclear, 4	RCV000540665	MedGen;OMIM;Orphanet	C3553709;614807;ORPHA319160	criteria provided, single submitter	tagSNP	rs527479144
Clinvar_Rec_9499	rs372726042	Likely benign	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000525393;RCV000525393	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs372726042
Clinvar_Rec_9500	rs61734410	Benign	Epilepsy, childhood absence 6;not provided;not specified	RCV000611967;RCV000711069;RCV000082065	MedGen;OMIM	C2749872;611942;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61734410
Clinvar_Rec_9501	rs1555514961	Uncertain significance	Epilepsy, childhood absence 6	RCV000660379	MedGen;OMIM	C2749872;611942	criteria provided, single submitter	tagSNP	rs1555514961
Clinvar_Rec_9502	rs1185269498	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000695867;RCV000695867	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs1185269498
Clinvar_Rec_9503	rs60218977	Benign	Epilepsy, childhood absence 6;not provided	RCV000606628;RCV000711113	MedGen;OMIM	C2749872;611942;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs60218977
Clinvar_Rec_9504	rs749054531	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000635076;RCV000635076	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs749054531
Clinvar_Rec_9505	rs1054645	Benign	Epilepsy, childhood absence 6;not provided;not specified	RCV000600827;RCV000711124;RCV000082076	MedGen;OMIM	C2749872;611942;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1054645
Clinvar_Rec_9506	rs367607849	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000685388;RCV000685388	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs367607849
Clinvar_Rec_9507	rs1555520840	Uncertain significance	Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy	RCV000635021;RCV000635021	MedGen;OMIM;OMIM;SNOMED CT	C4310756;617027;MedGen;600669;36803009	criteria provided, single submitter	tagSNP	rs1555520840
Clinvar_Rec_9508	rs202020308	Conflicting interpretations of pathogenicity	You-Hoover-Fong syndrome;not specified	RCV000225284;RCV000826054	MedGen;OMIM;Orphanet	C4310778;616954;ORPHA488642;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202020308
Clinvar_Rec_9509	rs746697405	Uncertain significance	Orofacial-digital syndrome III;Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;Short-rib thoracic dysplasia 1 with or without polydactyly	RCV000256471;RCV000386105;RCV000256471	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0406726;258850;ORPHA2752;239030004;MedGen;266920;ORPHA140969;MedGen;208500	criteria provided, single submitter	tagSNP	rs746697405
Clinvar_Rec_9510	rs566762665	Uncertain significance	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	RCV000351286	MedGen;OMIM;Orphanet	C1849437;266920;ORPHA140969	criteria provided, single submitter	LD derived	rs143899594
Clinvar_Rec_9511	rs1441549097	Pathogenic	Retinitis pigmentosa 80	RCV000515582	MedGen;OMIM	C4540439;617781	no assertion criteria provided	tagSNP	rs1441549097
Clinvar_Rec_9512	rs532561630	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001010921;RCV000460418	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201584852
Clinvar_Rec_9513	rs121909247	Pathogenic	Acid-labile subunit deficiency	RCV000008601	MedGen;OMIM;Orphanet	C3900122;615961;ORPHA140941	no assertion criteria provided	tagSNP	rs121909247
Clinvar_Rec_9514	rs543212050	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	RCV001019265;RCV000291968;RCV000460916	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	LD derived	rs539927192
Clinvar_Rec_9515	rs543212050	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001019266;RCV000555071	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs539927192
Clinvar_Rec_9516	rs543212050	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000397018	MedGen	CN239432	criteria provided, single submitter	LD derived	rs577301887
Clinvar_Rec_9517	rs371625359	Uncertain significance	Surfactant metabolism dysfunction, pulmonary, 3	RCV000850180	MedGen;OMIM;Orphanet	C1970456;610921;ORPHA440402	criteria provided, single submitter	LD derived	rs557707047
Clinvar_Rec_9518	rs574963835	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567278;RCV000530545;RCV000417522	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45483700
Clinvar_Rec_9519	rs574963835	Uncertain significance	Tuberous sclerosis 2	RCV000644103	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	LD derived	rs45483700
Clinvar_Rec_9520	rs574963835	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000163466;RCV000043334;RCV000205066;RCV000125699	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45483700
Clinvar_Rec_9521	rs45517103	not provided	Tuberous sclerosis syndrome;not specified	RCV000043075;RCV000119928	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	no assertion provided	tagSNP	rs45517103
Clinvar_Rec_9522	rs45517104	Benign/Likely benign	Tuberous sclerosis syndrome;not provided;not specified	RCV000043076;RCV000832776;RCV000253450	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45517104
Clinvar_Rec_9523	rs397514989	not provided	Tuberous sclerosis syndrome	RCV000055191	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514989
Clinvar_Rec_9524	rs137854292	not provided	Tuberous sclerosis syndrome	RCV000043153	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854292
Clinvar_Rec_9525	rs137854235	not provided	Tuberous sclerosis syndrome	RCV000043106	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854235
Clinvar_Rec_9526	rs45498496	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000715908;RCV000462179;RCV000602796	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45498496
Clinvar_Rec_9527	rs45498496	not provided	Tuberous sclerosis syndrome	RCV000043149	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45498496
Clinvar_Rec_9528	rs776293094	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001025075;RCV000465242;RCV000423232	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776293094
Clinvar_Rec_9529	rs878854120	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV001025142;RCV000230979	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854120
Clinvar_Rec_9530	rs762659998	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001025148;RCV000644415	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762659998
Clinvar_Rec_9531	rs1555498571	Uncertain significance	Tuberous sclerosis 2	RCV000546698	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555498571
Clinvar_Rec_9532	rs137854367	not provided	Tuberous sclerosis syndrome	RCV000043427	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854367
Clinvar_Rec_9533	rs201525586	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573673;RCV000234051;RCV000189882	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201525586
Clinvar_Rec_9534	rs137853998	not provided	Tuberous sclerosis syndrome	RCV000042400	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137853998
Clinvar_Rec_9535	rs137854127	not provided	Tuberous sclerosis syndrome	RCV000042402	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854127
Clinvar_Rec_9536	rs137854298	Conflicting interpretations of pathogenicity	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000201010;RCV000042942	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, conflicting interpretations	tagSNP	rs137854298
Clinvar_Rec_9537	rs45517157	not provided	Tuberous sclerosis syndrome	RCV000042901	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45517157
Clinvar_Rec_9538	rs45517159	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000201101;RCV000043444	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs45517159
Clinvar_Rec_9539	rs1567437505	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV001011936;RCV000690343	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567437505
Clinvar_Rec_9540	rs35896166	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000162956;RCV000055387;RCV000589685;RCV000118699	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35896166
Clinvar_Rec_9541	rs876659982	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218233	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659982
Clinvar_Rec_9542	rs397514885	not provided	Tuberous sclerosis syndrome	RCV000055052	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514885
Clinvar_Rec_9543	rs45517224	not provided	Tuberous sclerosis syndrome	RCV000042458	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45517224
Clinvar_Rec_9544	rs531724951	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000566749;RCV000924633	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs531724951
Clinvar_Rec_9545	rs45499191	not provided	Tuberous sclerosis syndrome	RCV000042940	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45499191
Clinvar_Rec_9546	rs1555506986	Uncertain significance	Tuberous sclerosis 2	RCV000529435	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555506986
Clinvar_Rec_9547	rs886051790	Conflicting interpretations of pathogenicity	Tuberous sclerosis syndrome;not provided	RCV000309089;RCV000644137	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886051790
Clinvar_Rec_9548	rs886051790	Uncertain significance	Tuberous sclerosis 2	RCV000689366	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs886051790
Clinvar_Rec_9549	rs397514984	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000571953;RCV000544312	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397514984
Clinvar_Rec_9550	rs397514984	not provided	Tuberous sclerosis syndrome	RCV000055182	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514984
Clinvar_Rec_9551	rs760885994	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000164417;RCV000559116	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760885994
Clinvar_Rec_9552	rs752656474	Uncertain significance	Tuberous sclerosis 2	RCV000700658	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs752656474
Clinvar_Rec_9553	rs1555507017	Likely benign	Tuberous sclerosis 2	RCV000644355	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555507017
Clinvar_Rec_9554	rs1489548085	Uncertain significance	Tuberous sclerosis 2	RCV000537581	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1489548085
Clinvar_Rec_9555	rs45517226	Pathogenic	Tuberous sclerosis syndrome;not provided	RCV000043411;RCV000760361	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, single submitter	tagSNP	rs45517226
Clinvar_Rec_9556	rs397514898	not provided	Autism spectrum disorder	RCV000055072	MedGen;Orphanet	C1510586;ORPHA106	no assertion provided	tagSNP	rs397514898
Clinvar_Rec_9557	rs201516931	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001018119;RCV000644367	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201516931
Clinvar_Rec_9558	rs1060504102	Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV001018355;RCV000460042	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504102
Clinvar_Rec_9559	rs137854334	not provided	Tuberous sclerosis syndrome	RCV000042498	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854334
Clinvar_Rec_9560	rs45517280	not provided	Tuberous sclerosis syndrome	RCV000042807	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45517280
Clinvar_Rec_9561	rs397515255	not provided	Tuberous sclerosis syndrome	RCV000055568	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515255
Clinvar_Rec_9562	rs1114167461	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000491500	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1114167461
Clinvar_Rec_9563	rs397515231	not provided	Tuberous sclerosis syndrome	RCV000055540	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515231
Clinvar_Rec_9564	rs137854015	Pathogenic	Tuberous sclerosis syndrome;not provided	RCV000042998;RCV000484132	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, single submitter	tagSNP	rs137854015
Clinvar_Rec_9565	rs137854157	not provided	Tuberous sclerosis syndrome	RCV000043307	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854157
Clinvar_Rec_9566	rs45464800	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001018603;RCV000476405;RCV000429909	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45464800
Clinvar_Rec_9567	rs45464800	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided	RCV000806140;RCV000042999;RCV000760362	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45464800
Clinvar_Rec_9568	rs45464800	not provided	Tuberous sclerosis syndrome	RCV000043000	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45464800
Clinvar_Rec_9569	rs562998574	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000563194;RCV000228234	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs562998574
Clinvar_Rec_9570	rs766888262	Likely benign	Tuberous sclerosis 2	RCV000644358	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs766888262
Clinvar_Rec_9571	rs137854270	not provided	Tuberous sclerosis syndrome	RCV000043074	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854270
Clinvar_Rec_9572	rs397514935	not provided	Tuberous sclerosis syndrome	RCV000055117	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514935
Clinvar_Rec_9573	rs137854009	not provided	Tuberous sclerosis syndrome	RCV000043364	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854009
Clinvar_Rec_9574	rs137854267	not provided	Tuberous sclerosis syndrome	RCV000043241	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854267
Clinvar_Rec_9575	rs1567124767	Uncertain significance	Tuberous sclerosis 2	RCV000693285	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1567124767
Clinvar_Rec_9576	rs878854112	Conflicting interpretations of pathogenicity	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21;Hereditary cancer-predisposing syndrome;not provided	RCV000761036;RCV001023346;RCV000228578	MedGen;Orphanet;SNOMED CT	C4329384;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs878854112
Clinvar_Rec_9577	rs776541842	Uncertain significance	Tuberous sclerosis 2	RCV000545542	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs776541842
Clinvar_Rec_9578	rs35534817	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified	RCV000129657;RCV000468606;RCV000042727;RCV000587528;RCV000118711	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;613254;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35534817
Clinvar_Rec_9579	rs137854016	not provided	Tuberous sclerosis syndrome	RCV000042696	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854016
Clinvar_Rec_9580	rs45467993	not provided	Tuberous sclerosis syndrome	RCV000042697	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45467993
Clinvar_Rec_9581	rs45467993	Pathogenic	Tuberous sclerosis 2;Tuberous sclerosis syndrome	RCV000795199;RCV000043118	MedGen;OMIM;Orphanet;SNOMED CT	C1860707;613254;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs45467993
Clinvar_Rec_9582	rs45467993	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001023448;RCV000232074;RCV000419271	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45467993
Clinvar_Rec_9583	rs45517387	not provided	Tuberous sclerosis syndrome	RCV000042603	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs45517387
Clinvar_Rec_9584	rs562220073	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000490979;RCV000477016;RCV000429972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs562220073
Clinvar_Rec_9585	rs761181064	Conflicting interpretations of pathogenicity	Tuberous sclerosis syndrome;not provided	RCV000340010;RCV000457441	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs761181064
Clinvar_Rec_9586	rs777006583	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;not specified	RCV000561599;RCV000798867;RCV000609138	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254;MedGen	criteria provided, conflicting interpretations	tagSNP	rs777006583
Clinvar_Rec_9587	rs137854214	Uncertain significance	Tuberous sclerosis 2	RCV000644264	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs137854214
Clinvar_Rec_9588	rs137854214	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000564954;RCV000042630;RCV000459470;RCV000417966	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137854214
Clinvar_Rec_9589	rs751622894	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001023927;RCV000605258	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751622894
Clinvar_Rec_9590	rs781226141	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV001023931;RCV000698185	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs781226141
Clinvar_Rec_9591	rs781226141	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV000213344;RCV001065110	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs781226141
Clinvar_Rec_9592	rs1555441353	Uncertain significance	Tuberous sclerosis 2	RCV000644110	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555441353
Clinvar_Rec_9593	rs755900742	Uncertain significance	Tuberous sclerosis 2	RCV000560567	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs755900742
Clinvar_Rec_9594	rs371580877	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575264;RCV000536614	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371580877
Clinvar_Rec_9595	rs137854420	not provided	Tuberous sclerosis syndrome	RCV000042684	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs137854420
Clinvar_Rec_9596	rs1405712076	Uncertain significance	Tuberous sclerosis 2	RCV000696912	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1405712076
Clinvar_Rec_9597	rs1555441455	Uncertain significance	Tuberous sclerosis 2	RCV000550040	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs1555441455
Clinvar_Rec_9598	rs371543182	Uncertain significance	Tuberous sclerosis 2	RCV000707703	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs371543182
Clinvar_Rec_9599	rs770117004	Conflicting interpretations of pathogenicity	Tuberous sclerosis syndrome;not provided;not specified	RCV000286078;RCV000231827;RCV000190046	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs770117004
Clinvar_Rec_9600	rs1334165353	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001023974;RCV000644339	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1334165353
Clinvar_Rec_9601	rs397515221	Uncertain significance	Hereditary cancer-predisposing syndrome;not specified	RCV001023976;RCV000523395	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515221
Clinvar_Rec_9602	rs397515221	not provided	Tuberous sclerosis syndrome	RCV000055524	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515221
Clinvar_Rec_9603	rs147685291	Benign/Likely benign	Polycystic kidney disease, adult type;not specified	RCV000989455;RCV000503788	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147685291
Clinvar_Rec_9604	rs376176735	Uncertain significance	Proteinuria;Renal cyst	RCV000414820;RCV000414820	Human Phenotype Ontology;MedGen;MedGen	HP;C0033687;Human Phenotype Ontology;C3887499	criteria provided, single submitter	tagSNP	rs376176735
Clinvar_Rec_9605	rs1567216323	Pathogenic	Polycystic kidney disease, adult type	RCV000735755	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008	no assertion criteria provided	tagSNP	rs1567216323
Clinvar_Rec_9606	rs374518168	Benign	Polycystic kidney disease, adult type;not provided;not specified	RCV001000030;RCV000712605;RCV000502491	MedGen;OMIM;SNOMED CT	C3149841;173900;28728008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374518168
Clinvar_Rec_9607	rs530343056	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000393219	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	LD derived	rs190646700
Clinvar_Rec_9608	rs45518738	Likely benign	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000356063	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs45518738
Clinvar_Rec_9609	rs570179092	Uncertain significance	Tuberous sclerosis 2;not provided	RCV000695827;RCV000480205	MedGen;OMIM	C1860707;613254;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs553942147
Clinvar_Rec_9610	rs570179092	Uncertain significance	Tuberous sclerosis 2	RCV000644347	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	LD derived	rs553942147
Clinvar_Rec_9611	rs574768683	Uncertain significance	Caused by mutation in the TBC1 domain family, member 24;Deafness, autosomal dominant 65;Epileptic encephalopathy, early infantile, 1;not provided;not specified	RCV000811630;RCV000811630;RCV000811630;RCV000118581;RCV000606977	MedGen;OMIM;OMIM;Orphanet;Orphanet	C3809181;MedGen;616044;MedGen;308350;ORPHA3175;ORPHA364063;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs574768683
Clinvar_Rec_9612	rs78644690	Conflicting interpretations of pathogenicity	Deafness, autosomal dominant 65;Seizures;not provided;not specified	RCV001002765;RCV000718088;RCV000867209;RCV000218064	MedGen;OMIM;MedGen	C3892048;616044;Human Phenotype Ontology;C0036572;MedGen	criteria provided, conflicting interpretations	tagSNP	rs78644690
Clinvar_Rec_9613	rs886051846	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000289658	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	tagSNP	rs886051846
Clinvar_Rec_9614	rs527744116	Uncertain significance	Myoclonic epilepsy, familial infantile	RCV000382552	MedGen;OMIM;Orphanet	C0917800;605021;ORPHA352582	criteria provided, single submitter	tagSNP	rs527744116
Clinvar_Rec_9615	rs549721861	Conflicting interpretations of pathogenicity	Myoclonic epilepsy, familial infantile;Rolandic epilepsy;Seizures;not provided;not specified	RCV000340164;RCV000656037;RCV000717076;RCV000585579;RCV000189679	MedGen;OMIM;Orphanet;Orphanet;MedGen	C0917800;605021;ORPHA352582;MedGen;ORPHA1945;Human Phenotype Ontology;C0036572;MedGen	criteria provided, conflicting interpretations	LD derived	rs202162520
Clinvar_Rec_9616	rs569113779	Conflicting interpretations of pathogenicity	Familial Mediterranean fever;not provided;not specified	RCV000083679;RCV000755567;RCV000417776	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, conflicting interpretations	LD derived	rs104895198
Clinvar_Rec_9617	rs574283189	Conflicting interpretations of pathogenicity	Familial Mediterranean fever;not provided	RCV000398218;RCV000926055	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, conflicting interpretations	LD derived	rs569040282
Clinvar_Rec_9618	rs568615934	Benign	Familial Mediterranean fever;not specified	RCV000083709;RCV001001397	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, single submitter	LD derived	rs104895169
Clinvar_Rec_9619	rs568129540	Uncertain significance	Familial Mediterranean fever	RCV000361418	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs568129540
Clinvar_Rec_9620	rs450021	Likely benign	Familial Mediterranean fever	RCV000268110	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs450021
Clinvar_Rec_9621	rs450021	Likely benign	Familial Mediterranean fever	RCV000354600	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs34895148
Clinvar_Rec_9622	rs450021	Likely benign	Familial Mediterranean fever	RCV000293660	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs170387
Clinvar_Rec_9623	rs450021	Likely benign	Familial Mediterranean fever	RCV000291003	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs11466052
Clinvar_Rec_9624	rs450021	Likely benign	Familial Mediterranean fever	RCV000345914	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs11466051
Clinvar_Rec_9625	rs450021	Likely benign	Familial Mediterranean fever	RCV000301778	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs61379197
Clinvar_Rec_9626	rs450021	Likely benign	Familial Mediterranean fever	RCV000209906	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, multiple submitters, no conflicts	LD derived	rs2741918
Clinvar_Rec_9627	rs450021	Likely benign	Familial Mediterranean fever	RCV000209870	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, multiple submitters, no conflicts	LD derived	rs2741919
Clinvar_Rec_9628	rs450021	Benign	Familial Mediterranean fever;not specified	RCV000030177;RCV000266471	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1231122
Clinvar_Rec_9629	rs450021	Benign/Likely benign	Familial Mediterranean fever;not specified	RCV000030175;RCV000254381	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs224206
Clinvar_Rec_9630	rs450021	Benign/Likely benign	Familial Mediterranean fever;not specified	RCV000399975;RCV000244842	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs224207
Clinvar_Rec_9631	rs450021	Benign/Likely benign	Familial Mediterranean fever;not specified	RCV000030172;RCV000253062	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs224208
Clinvar_Rec_9632	rs104895201	Uncertain significance	Familial Mediterranean fever	RCV000083752	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895201
Clinvar_Rec_9633	rs199937453	Uncertain significance	Familial Mediterranean fever	RCV000286090	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	tagSNP	rs199937453
Clinvar_Rec_9634	rs104895099	Benign/Likely benign	Familial Mediterranean fever;not provided;not specified	RCV000030174;RCV000756330;RCV000126736	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895099
Clinvar_Rec_9635	rs377278477	Uncertain significance	Familial Mediterranean fever	RCV000313096	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009	criteria provided, single submitter	LD derived	rs558576646
Clinvar_Rec_9636	rs7185672	Conflicting interpretations of pathogenicity	Familial Mediterranean fever;not specified	RCV000083689;RCV000428464	MedGen;OMIM;Orphanet;SNOMED CT	C0031069;249100;ORPHA342;12579009;MedGen	criteria provided, conflicting interpretations	LD derived	rs77086855
Clinvar_Rec_9637	rs553672066	Conflicting interpretations of pathogenicity	Fanconi anemia, complementation group A;Fanconi anemia, complementation group P;not provided	RCV000989503;RCV000764064;RCV000519850	MedGen;OMIM;OMIM	C3469521;227650;MedGen;613951;MedGen	criteria provided, conflicting interpretations	LD derived	rs149126845
Clinvar_Rec_9638	rs116498263	Uncertain significance	Fanconi anemia	RCV000400376	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs116498263
Clinvar_Rec_9639	rs200507644	Uncertain significance	Fanconi anemia	RCV000630856	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs200507644
Clinvar_Rec_9640	rs368434737	Uncertain significance	Fanconi anemia	RCV000475264	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs368434737
Clinvar_Rec_9641	rs771835799	Uncertain significance	Fanconi anemia	RCV000475298	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs771835799
Clinvar_Rec_9642	rs373231418	Uncertain significance	Fanconi anemia	RCV000697495	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs373231418
Clinvar_Rec_9643	rs1555472931	Pathogenic	Rubinstein-Taybi syndrome 1	RCV000632996	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs1555472931
Clinvar_Rec_9644	rs797045487	Pathogenic	Rubinstein-Taybi syndrome 1	RCV000193780	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs797045487
Clinvar_Rec_9645	rs112926217	Conflicting interpretations of pathogenicity	Nephronophthisis;not provided;not specified	RCV000352028;RCV000857729;RCV000082304	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs112926217
Clinvar_Rec_9646	rs2305659	Uncertain significance	Kohlschutter's syndrome	RCV000395002	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs2305659
Clinvar_Rec_9647	rs570952151	Pathogenic	Kohlschutter's syndrome	RCV000685237	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs570952151
Clinvar_Rec_9648	rs1555491894	Uncertain significance	Kohlschutter's syndrome	RCV000636833	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs1555491894
Clinvar_Rec_9649	rs886052038	Uncertain significance	Kohlschutter's syndrome	RCV000366884	MedGen;OMIM;Orphanet;SNOMED CT	C0406740;226750;ORPHA1946;109478007	criteria provided, single submitter	tagSNP	rs886052038
Clinvar_Rec_9650	rs538092815	Uncertain significance	Gamma-aminobutyric acid transaminase deficiency	RCV000315045	MedGen;OMIM;Orphanet;SNOMED CT	C0342708;613163;ORPHA2066;237941007	criteria provided, single submitter	tagSNP	rs538092815
Clinvar_Rec_9651	rs149745535	Likely benign	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000546826	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs149745535
Clinvar_Rec_9652	rs1567275934	Uncertain significance	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000703855	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs1567275934
Clinvar_Rec_9653	rs369878342	Conflicting interpretations of pathogenicity	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	RCV000699031;RCV000859134	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369878342
Clinvar_Rec_9654	rs1555482933	Pathogenic	Rolandic epilepsy	RCV000656042	MedGen;Orphanet	CN417132;ORPHA1945	no assertion criteria provided	tagSNP	rs1555482933
Clinvar_Rec_9655	rs1445802934	Conflicting interpretations of pathogenicity	Epilepsy, focal, with speech disorder and with or without mental retardation;Inborn genetic diseases;not provided	RCV000585851;RCV000624530;RCV000513348	MedGen;OMIM;Orphanet;MedGen	C3806402;245570;ORPHA98818;MeSH;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1445802934
Clinvar_Rec_9656	rs397518472	Pathogenic	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	RCV000074393;RCV000260469	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, single submitter	tagSNP	rs397518472
Clinvar_Rec_9657	rs397518468	Likely pathogenic	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000074389	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs397518468
Clinvar_Rec_9658	rs397518470	Pathogenic	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000687870	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs397518470
Clinvar_Rec_9659	rs397518470	Pathogenic/Likely pathogenic	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided	RCV000074391;RCV000379543	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397518470
Clinvar_Rec_9660	rs78929970	Conflicting interpretations of pathogenicity	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided;not specified	RCV001034263;RCV000728016;RCV000613526	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, conflicting interpretations	tagSNP	rs78929970
Clinvar_Rec_9661	rs373239575	Uncertain significance	Epilepsy, focal, with speech disorder and with or without mental retardation	RCV000707521	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818	criteria provided, single submitter	tagSNP	rs373239575
Clinvar_Rec_9662	rs367543124	Conflicting interpretations of pathogenicity	Epilepsy, focal, with speech disorder and with or without mental retardation;not provided;not specified	RCV000703188;RCV000084744;RCV000194289	MedGen;OMIM;Orphanet	C3806402;245570;ORPHA98818;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367543124
Clinvar_Rec_9663	rs137852602	Pathogenic	Bare lymphocyte syndrome type 2, complementation group A	RCV000010149	MedGen	C1859534	no assertion criteria provided	tagSNP	rs137852602
Clinvar_Rec_9664	rs397509403	Pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome	RCV000049248	MedGen	C3806565	no assertion criteria provided	tagSNP	rs397509403
Clinvar_Rec_9665	rs534937079	Benign/Likely benign	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;not provided;not specified	RCV001000639;RCV000251308;RCV000204777;RCV000244795	MedGen;OMIM	C1851504;132900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113302393
Clinvar_Rec_9666	rs572790932	Conflicting interpretations of pathogenicity	Lissencephaly, Recessive;not provided	RCV000271161;RCV000925995	MedGen	CN239458;MedGen	criteria provided, conflicting interpretations	tagSNP	rs572790932
Clinvar_Rec_9667	rs761000142	Likely benign	Cardiovascular phenotype	RCV000620363	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs761000142
Clinvar_Rec_9668	rs1353911032	Uncertain significance	Cardiovascular phenotype	RCV000619566	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1353911032
Clinvar_Rec_9669	rs1401043343	Likely benign	Aortic aneurysm, familial thoracic 4	RCV000529670	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs1401043343
Clinvar_Rec_9670	rs113462408	Benign/Likely benign	Lissencephaly, Recessive;not specified	RCV000284601;RCV000437192	MedGen	CN239458;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114855401
Clinvar_Rec_9671	rs113462408	Likely benign	Lissencephaly, Recessive;not specified	RCV000339587;RCV000418652	MedGen	CN239458;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142755362
Clinvar_Rec_9672	rs794728676	Uncertain significance	Cardiovascular phenotype;not specified	RCV000182556;RCV000254669	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728676
Clinvar_Rec_9673	rs2075511	Benign/Likely benign	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000609871;RCV000617695;RCV000316233;RCV000250056;RCV000126950	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2075511
Clinvar_Rec_9674	rs746615097	Uncertain significance	Aortic aneurysm, familial thoracic 4;Aortic dilatation;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000547917;RCV000581573;RCV000618437;RCV000776321;RCV000182508	MedGen;OMIM;MedGen;Orphanet	C1851504;132900;Human Phenotype Ontology;C0265004;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746615097
Clinvar_Rec_9675	rs1555556543	Likely benign	Cardiovascular phenotype	RCV000620480	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555556543
Clinvar_Rec_9676	rs886038854	Uncertain significance	Aortic aneurysm, familial thoracic 4	RCV000559707	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs886038854
Clinvar_Rec_9677	rs886038854	Likely benign	Cardiovascular phenotype	RCV000251700	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038854
Clinvar_Rec_9678	rs112861184	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Connective tissue disease;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV001000697;RCV000617043;RCV000680556;RCV000246269;RCV000228093;RCV000182467	MedGen;OMIM;Orphanet	C1851504;132900;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs112861184
Clinvar_Rec_9679	rs1555559592	Likely benign	Aortic aneurysm, familial thoracic 4	RCV000641627	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs1555559592
Clinvar_Rec_9680	rs2272554	Benign/Likely benign	Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified	RCV000621221;RCV000250326;RCV000126931	MedGen;Orphanet	CN230736;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2272554
Clinvar_Rec_9681	rs773802963	Benign	Thoracic aortic aneurysm and aortic dissection	RCV000774243	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs773802963
Clinvar_Rec_9682	rs376999218	Likely benign	Aortic aneurysm, familial thoracic 4	RCV000474178	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs376999218
Clinvar_Rec_9683	rs537294070	Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000618966;RCV000471225;RCV000612035	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138581000
Clinvar_Rec_9684	rs864309563	Uncertain significance	Aortic aneurysm, familial thoracic 4	RCV000202901	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs864309563
Clinvar_Rec_9685	rs199654191	Uncertain significance	Aortic aneurysm, familial thoracic 4;not provided	RCV000802770;RCV000374025	MedGen;OMIM	C1851504;132900;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199654191
Clinvar_Rec_9686	rs755935176	Likely benign	Aortic aneurysm, familial thoracic 4	RCV000559591	MedGen;OMIM	C1851504;132900	criteria provided, single submitter	tagSNP	rs755935176
Clinvar_Rec_9687	rs63749992	Pathogenic	Pseudoxanthoma elasticum	RCV000499013	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs63749992
Clinvar_Rec_9688	rs60975032	Pathogenic	Pseudoxanthoma elasticum	RCV000499346	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs60975032
Clinvar_Rec_9689	rs72657695	Pathogenic	Pseudoxanthoma elasticum	RCV000499128	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs72657695
Clinvar_Rec_9690	rs72657695	Pathogenic	Pseudoxanthoma elasticum	RCV000499291	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs72657695
Clinvar_Rec_9691	rs769437554	Likely pathogenic	Pseudoxanthoma elasticum;not provided	RCV000499108;RCV000479297	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005;MedGen	criteria provided, single submitter	tagSNP	rs769437554
Clinvar_Rec_9692	rs72657693	Pathogenic	Pseudoxanthoma elasticum	RCV000499215	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs72657693
Clinvar_Rec_9693	rs4780605	Conflicting interpretations of pathogenicity	Pseudoxanthoma elasticum;not specified	RCV000499337;RCV000435294	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs4780605
Clinvar_Rec_9694	rs72653757	Likely benign	Pseudoxanthoma elasticum;not specified	RCV000499344;RCV000419346	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005;MedGen	criteria provided, single submitter	tagSNP	rs72653757
Clinvar_Rec_9695	rs72650697	Pathogenic	Pseudoxanthoma elasticum	RCV000499079	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs72650697
Clinvar_Rec_9696	rs763591743	Pathogenic	Pseudoxanthoma elasticum	RCV000499301	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	tagSNP	rs763591743
Clinvar_Rec_9697	rs527651940	Benign	Pseudoxanthoma elasticum	RCV000499028	MedGen;OMIM;Orphanet;SNOMED CT	C0033847;264800;ORPHA758;252246005	no assertion criteria provided	LD derived	rs56019914
Clinvar_Rec_9698	rs1567215600	Pathogenic	Desbuquois dysplasia 2	RCV000758143	MedGen;OMIM	C4014294;615777	no assertion criteria provided	tagSNP	rs1567215600
Clinvar_Rec_9699	rs5726	Benign	Liddle syndrome 1	RCV000263142	MedGen;OMIM	CN031472;177200	criteria provided, single submitter	tagSNP	rs5726
Clinvar_Rec_9700	rs199810483	Uncertain significance	Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1	RCV000318042;RCV000372576	MedGen;OMIM;OMIM	C2749757;211400;MedGen;177200	criteria provided, single submitter	tagSNP	rs199810483
Clinvar_Rec_9701	rs201607271	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000299737	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs201607271
Clinvar_Rec_9702	rs200139797	Conflicting interpretations of pathogenicity	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000367728;RCV000726575;RCV000284636	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200139797
Clinvar_Rec_9703	rs1555457845	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000574725	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555457845
Clinvar_Rec_9704	rs1555457848	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000543689;RCV000563642	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555457848
Clinvar_Rec_9705	rs587776427	Pathogenic	Familial cancer of breast;not provided	RCV001030420;RCV000133489	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	no assertion criteria provided	tagSNP	rs587776427
Clinvar_Rec_9706	rs45439097	Conflicting interpretations of pathogenicity	Fanconi anemia;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000384114;RCV000127303;RCV000586081;RCV000212828	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45439097
Clinvar_Rec_9707	rs45439097	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001020441;RCV000602217	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45439097
Clinvar_Rec_9708	rs876660792	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000822894;RCV000217867;RCV000483996	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660792
Clinvar_Rec_9709	rs730881896	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567371;RCV000461054;RCV000423165	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881896
Clinvar_Rec_9710	rs730881896	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000464364;RCV000576122;RCV000160857	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881896
Clinvar_Rec_9711	rs730881895	Uncertain significance	Familial cancer of breast;not provided	RCV000799466;RCV000160856	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881895
Clinvar_Rec_9712	rs45566737	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000211075;RCV000130657;RCV000588260	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45566737
Clinvar_Rec_9713	rs1433737234	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569188	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1433737234
Clinvar_Rec_9714	rs1567205096	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772818	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567205096
Clinvar_Rec_9715	rs587776424	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000540873;RCV000165289;RCV000133486	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776424
Clinvar_Rec_9716	rs62625284	Conflicting interpretations of pathogenicity	Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group N;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;bilateral breast cancer;not provided	RCV000114625;RCV000764041;RCV000764041;RCV000116104;RCV000764041;RCV001004833;RCV000585950	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;114480;ORPHA227535;254843006;MedGen;610832;MedGen;ORPHA140162;699346009;MedGen;613348;MedGen	criteria provided, conflicting interpretations	tagSNP	rs62625284
Clinvar_Rec_9717	rs62625284	Uncertain significance	Familial cancer of breast;Familial cancer of breast;Fanconi anemia, complementation group N;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3	RCV000114626;RCV000764040;RCV000764040;RCV001020276;RCV000764040	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;114480;ORPHA227535;254843006;MedGen;610832;MedGen;ORPHA140162;699346009;MedGen;613348	criteria provided, multiple submitters, no conflicts	tagSNP	rs62625284
Clinvar_Rec_9718	rs62625283	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000195510;RCV000162652;RCV000236626	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs62625283
Clinvar_Rec_9719	rs1249960937	Uncertain significance	Familial cancer of breast	RCV000635774	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1249960937
Clinvar_Rec_9720	rs1249960937	Uncertain significance	Familial cancer of breast	RCV000635781	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1249960937
Clinvar_Rec_9721	rs876660492	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000812433;RCV000217312	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660492
Clinvar_Rec_9722	rs1555457883	Likely benign	Hereditary cancer-predisposing syndrome	RCV000563145	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555457883
Clinvar_Rec_9723	rs876660574	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000214247;RCV000657478	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660574
Clinvar_Rec_9724	rs1282821765	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not specified	RCV000528385;RCV001020184;RCV000602592	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1282821765
Clinvar_Rec_9725	rs876658196	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000229527;RCV000215576;RCV000590765	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658196
Clinvar_Rec_9726	rs1250153779	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000568585;RCV000921181	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1250153779
Clinvar_Rec_9727	rs1250153779	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581503	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1250153779
Clinvar_Rec_9728	rs587776418	Pathogenic	Familial cancer of breast;not provided	RCV001030343;RCV000133480	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen	no assertion criteria provided	tagSNP	rs587776418
Clinvar_Rec_9729	rs1227325413	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000559528;RCV000565362	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1227325413
Clinvar_Rec_9730	rs1060499822	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000454350	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060499822
Clinvar_Rec_9731	rs1567214484	Pathogenic	Familial cancer of breast	RCV000693774	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567214484
Clinvar_Rec_9732	rs747148023	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000229872;RCV000218515;RCV000236720	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747148023
Clinvar_Rec_9733	rs149836639	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000635655;RCV000581656;RCV000481392	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149836639
Clinvar_Rec_9734	rs149836639	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000540803;RCV001015450	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs149836639
Clinvar_Rec_9735	rs149836639	Likely benign	Bronchiectasis with or without elevated sweat chloride 1;Liddle syndrome 1;not provided	RCV000399676;RCV000278059;RCV000916155	MedGen;OMIM;OMIM	C2749757;211400;MedGen;177200;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200714599
Clinvar_Rec_9736	rs1555461551	Pathogenic/Likely pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV001030187;RCV000568077;RCV000657183	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555461551
Clinvar_Rec_9737	rs528541334	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562506	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs528541334
Clinvar_Rec_9738	rs528541334	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000114669;RCV000219489;RCV000859475;RCV000121751	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs528541334
Clinvar_Rec_9739	rs763726703	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568197	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs763726703
Clinvar_Rec_9740	rs1567222088	Uncertain significance	Familial cancer of breast	RCV000705653	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1567222088
Clinvar_Rec_9741	rs1060502765	Uncertain significance	Familial cancer of breast	RCV000474350	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1060502765
Clinvar_Rec_9742	rs1060502765	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000551680;RCV000563746	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs1060502765
Clinvar_Rec_9743	rs1567222143	Pathogenic	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000794070;RCV000708621	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1567222143
Clinvar_Rec_9744	rs567138288	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome	RCV000456874;RCV000561159	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs545119348
Clinvar_Rec_9745	rs74012349	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not specified	RCV000359547;RCV000616074	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	LD derived	rs74012174
Clinvar_Rec_9746	rs74012349	Conflicting interpretations of pathogenicity	Combined oxidative phosphorylation deficiency;not provided;not specified	RCV000270158;RCV000912485;RCV000444867	MedGen;Orphanet	CN228601;ORPHA2443;MedGen	criteria provided, conflicting interpretations	LD derived	rs74014932
Clinvar_Rec_9747	rs74012349	Benign/Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000123340;RCV000127296;RCV000587582;RCV000212814	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45542234
Clinvar_Rec_9748	rs74012349	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000566660;RCV000590220;RCV000160819	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45542234
Clinvar_Rec_9749	rs145967477	Conflicting interpretations of pathogenicity	Juvenile neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;not provided;not specified	RCV001027945;RCV000324671;RCV000711257;RCV000186619	MedGen;OMIM;Orphanet;SNOMED CT	C0751383;204200;ORPHA79264;61663001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145967477
Clinvar_Rec_9750	rs145520962	Uncertain significance	Juvenile neuronal ceroid lipofuscinosis;Neuronal ceroid lipofuscinosis;not provided	RCV000765283;RCV000632679;RCV000178825	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0751383;204200;ORPHA79264;61663001;MedGen;214200;ORPHA216;42012007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145520962
Clinvar_Rec_9751	rs386833709	Pathogenic	Juvenile neuronal ceroid lipofuscinosis;Neuronal ceroid lipofuscinosis	RCV000049670;RCV000812617	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0751383;204200;ORPHA79264;61663001;MedGen;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs386833709
Clinvar_Rec_9752	rs138433617	Benign/Likely benign	Seizures;not provided;not specified	RCV000720073;RCV000863867;RCV000124321	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138433617
Clinvar_Rec_9753	rs780273573	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000358295	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs780273573
Clinvar_Rec_9754	rs764968635	Uncertain significance	Combined oxidative phosphorylation deficiency 4	RCV000388692	MedGen;OMIM;Orphanet	C1857682;610678;ORPHA254925	criteria provided, single submitter	tagSNP	rs764968635
Clinvar_Rec_9755	rs750195772	Uncertain significance	Brody myopathy	RCV000547197	MedGen;OMIM;Orphanet	C1832918;601003;ORPHA53347	criteria provided, single submitter	tagSNP	rs750195772
Clinvar_Rec_9756	rs1307339770	Uncertain significance	Brody myopathy	RCV000703994	MedGen;OMIM;Orphanet	C1832918;601003;ORPHA53347	criteria provided, single submitter	tagSNP	rs1307339770
Clinvar_Rec_9757	rs121918115	Pathogenic	Brody myopathy	RCV000019384	MedGen;OMIM;Orphanet	C1832918;601003;ORPHA53347	no assertion criteria provided	tagSNP	rs121918115
Clinvar_Rec_9758	rs760650232	Uncertain significance	Brody myopathy	RCV000691809	MedGen;OMIM;Orphanet	C1832918;601003;ORPHA53347	criteria provided, single submitter	tagSNP	rs760650232
Clinvar_Rec_9759	rs532548981	Likely benign	Brody myopathy;not specified	RCV000555119;RCV000600951	MedGen;OMIM;Orphanet	C1832918;601003;ORPHA53347;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs577190575
Clinvar_Rec_9760	rs869025256	Likely benign	Anophthalmia - microphthalmia	RCV000207389	MedGen	CN235161	criteria provided, single submitter	tagSNP	rs869025256
Clinvar_Rec_9761	rs886051919	Likely benign	Glycogen phosphorylase kinase deficiency	RCV000368207	MedGen;Orphanet;SNOMED CT	C0268147;ORPHA370;235908005	criteria provided, single submitter	tagSNP	rs886051919
Clinvar_Rec_9762	rs201807199	Likely benign	Floating-Harbor syndrome;not provided;not specified	RCV000348139;RCV000919482;RCV000401422	MedGen;OMIM;Orphanet;SNOMED CT	C0729582;136140;ORPHA2044;312214005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs150467782
Clinvar_Rec_9763	rs1555488653	Pathogenic	Inborn genetic diseases	RCV000622300	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555488653
Clinvar_Rec_9764	rs724159974	Pathogenic	Generalized epilepsy with febrile seizures plus, type 9	RCV000149793	MedGen;OMIM	C4015395;616172	no assertion criteria provided	tagSNP	rs724159974
Clinvar_Rec_9765	rs67676356	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000301801	MedGen	CN239175	criteria provided, single submitter	tagSNP	rs67676356
Clinvar_Rec_9766	rs67676356	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;not provided	RCV000368293;RCV000711712	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73530287
Clinvar_Rec_9767	rs67676356	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;not provided	RCV000325465;RCV000711708	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61733965
Clinvar_Rec_9768	rs67676356	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000348832	MedGen	CN239175	criteria provided, single submitter	LD derived	rs73530295
Clinvar_Rec_9769	rs531394387	Pathogenic	Familial renal glucosuria	RCV000022761	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007	no assertion criteria provided	LD derived	rs398122801
Clinvar_Rec_9770	rs114050461	Conflicting interpretations of pathogenicity	Familial renal glucosuria;not provided	RCV000324812;RCV000957410	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007;MedGen	criteria provided, conflicting interpretations	LD derived	rs75646778
Clinvar_Rec_9771	rs114050461	Uncertain significance	Familial renal glucosuria	RCV000304349	MedGen;OMIM;Orphanet;SNOMED CT	C0017980;233100;ORPHA69076;226309007	criteria provided, single submitter	LD derived	rs114517938
Clinvar_Rec_9772	rs886052026	Uncertain significance	Glycogen phosphorylase kinase deficiency	RCV000394610	MedGen;Orphanet;SNOMED CT	C0268147;ORPHA370;235908005	criteria provided, single submitter	tagSNP	rs886052026
Clinvar_Rec_9773	rs104895423	Benign	Blau syndrome;not provided	RCV000084138;RCV000638074	MedGen;OMIM;Orphanet	C1861303;186580;ORPHA90340;MedGen	criteria provided, single submitter	tagSNP	rs104895423
Clinvar_Rec_9774	rs104895425	Benign/Likely benign	Blau syndrome;Crohn disease;not provided	RCV000084140;RCV000312783;RCV000895390	MedGen;OMIM;Orphanet	C1861303;186580;ORPHA90340;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104895425
Clinvar_Rec_9775	rs769988393	Uncertain significance	Blau syndrome;Inflammatory bowel disease 1	RCV000699576;RCV000699576	MedGen;OMIM;Orphanet;OMIM	C1861303;186580;ORPHA90340;MedGen;266600	criteria provided, single submitter	tagSNP	rs769988393
Clinvar_Rec_9776	rs772534917	Uncertain significance	Blau syndrome;Inflammatory bowel disease 1	RCV000705559;RCV000705559	MedGen;OMIM;Orphanet;OMIM	C1861303;186580;ORPHA90340;MedGen;266600	criteria provided, single submitter	tagSNP	rs772534917
Clinvar_Rec_9777	rs777949388	Uncertain significance	Blau syndrome;Crohn disease	RCV000355684;RCV000298472	MedGen;OMIM;Orphanet	C1861303;186580;ORPHA90340;MedGen	criteria provided, single submitter	tagSNP	rs777949388
Clinvar_Rec_9778	rs104895471	Uncertain significance	Blau syndrome;Blau syndrome;Inflammatory bowel disease 1	RCV000084093;RCV000817814;RCV000817814	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM	C1861303;186580;ORPHA90340;MedGen;186580;ORPHA90340;MedGen;266600	criteria provided, single submitter	tagSNP	rs104895471
Clinvar_Rec_9779	rs104895436	not provided	Blau syndrome	RCV000084094	MedGen;OMIM;Orphanet	C1861303;186580;ORPHA90340	no assertion provided	tagSNP	rs104895436
Clinvar_Rec_9780	rs57638820	Likely benign	Cylindromatosis, familial	RCV000343028	MedGen;OMIM;Orphanet	C1851526;132700;ORPHA211	criteria provided, single submitter	tagSNP	rs57638820
Clinvar_Rec_9781	rs527817390	Likely benign	Cylindromatosis, familial	RCV000282082	MedGen;OMIM;Orphanet	C1851526;132700;ORPHA211	criteria provided, single submitter	LD derived	rs192470603
Clinvar_Rec_9782	rs117637522	Uncertain significance	Growth retardation, developmental delay, coarse facies, and early death	RCV000266685	MedGen;OMIM;Orphanet	C2752001;612938;ORPHA210144	criteria provided, single submitter	tagSNP	rs117637522
Clinvar_Rec_9783	rs886052125	Uncertain significance	Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders	RCV000269808	MedGen	CN239151	criteria provided, single submitter	tagSNP	rs886052125
Clinvar_Rec_9784	rs1567488305	Likely pathogenic	History of neurodevelopmental disorder	RCV000720703	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1567488305
Clinvar_Rec_9785	rs587777055	Pathogenic	Early infantile epileptic encephalopathy 17	RCV000056406	MedGen;OMIM	C3809606;615473	no assertion criteria provided	tagSNP	rs587777055
Clinvar_Rec_9786	rs761193208	Uncertain significance	Familial hypokalemia-hypomagnesemia	RCV000313622	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003	criteria provided, single submitter	tagSNP	rs761193208
Clinvar_Rec_9787	rs28936387	Pathogenic	Familial hypokalemia-hypomagnesemia	RCV000009116	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003	no assertion criteria provided	tagSNP	rs28936387
Clinvar_Rec_9788	rs200817545	Pathogenic	Familial hypokalemia-hypomagnesemia	RCV000454555	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003	no assertion criteria provided	tagSNP	rs200817545
Clinvar_Rec_9789	rs200697179	Pathogenic	Familial hypokalemia-hypomagnesemia	RCV000449562	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003	criteria provided, single submitter	tagSNP	rs200697179
Clinvar_Rec_9790	rs147901432	Pathogenic	Familial hypokalemia-hypomagnesemia;not provided	RCV000362354;RCV000993002	MedGen;OMIM;Orphanet;SNOMED CT	C0268450;263800;ORPHA358;3188003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147901432
Clinvar_Rec_9791	rs192843629	Uncertain significance	Retinal dystrophy;Retinitis Pigmentosa, Recessive;not provided	RCV001074215;RCV000291964;RCV000724483	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs192843629
Clinvar_Rec_9792	rs376270	Likely benign	Retinitis Pigmentosa, Recessive	RCV000339801	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs376270
Clinvar_Rec_9793	rs375519490	Uncertain significance	Retinitis Pigmentosa, Recessive;not provided	RCV000361940;RCV001066124	MedGen	CN239466;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375519490
Clinvar_Rec_9794	rs40191	Likely benign	Mitochondrial DNA depletion syndrome	RCV000384079	MedGen;Orphanet	C0342782;ORPHA35698	criteria provided, single submitter	LD derived	rs3743711
Clinvar_Rec_9795	rs3743711	Likely benign	Mitochondrial DNA depletion syndrome	RCV000384079	MedGen;Orphanet	C0342782;ORPHA35698	criteria provided, single submitter	tagSNP	rs3743711
Clinvar_Rec_9796	rs3743711	Likely benign	Mitochondrial DNA depletion syndrome	RCV000316691	MedGen;Orphanet	C0342782;ORPHA35698	criteria provided, single submitter	LD derived	rs74451221
Clinvar_Rec_9797	rs281865490	Pathogenic	Mitochondrial DNA depletion syndrome 2	RCV000032243	MedGen;OMIM;Orphanet	C3149750;609560;ORPHA254875	no assertion criteria provided	tagSNP	rs281865490
Clinvar_Rec_9798	rs151179697	Uncertain significance	Mitochondrial DNA depletion syndrome	RCV000301112	MedGen;Orphanet	C0342782;ORPHA35698	criteria provided, single submitter	LD derived	rs193271947
Clinvar_Rec_9799	rs794726670	Pathogenic	Apparent mineralocorticoid excess	RCV000012884	MedGen;OMIM;Orphanet	C3887949;218030;ORPHA320	no assertion criteria provided	tagSNP	rs794726670
Clinvar_Rec_9800	rs143837268	Benign	History of neurodevelopmental disorder;not specified	RCV000715378;RCV000116843	MedGen	C2711754;MedGen	criteria provided, single submitter	tagSNP	rs143837268
Clinvar_Rec_9801	rs193921053	Uncertain significance	Malignant tumor of prostate	RCV000149253	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193921053
Clinvar_Rec_9802	rs775268226	Likely pathogenic	EEM syndrome	RCV000625862	MedGen;OMIM;Orphanet	C1857041;225280;ORPHA1897	criteria provided, single submitter	tagSNP	rs775268226
Clinvar_Rec_9803	rs1555515210	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV000584690;RCV000657353	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555515210
Clinvar_Rec_9804	rs1555515214	Likely pathogenic	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000581892;RCV000991089	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	reviewed by expert panel	tagSNP	rs1555515214
Clinvar_Rec_9805	rs1555515215	Pathogenic	Hereditary diffuse gastric cancer	RCV000525870	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555515215
Clinvar_Rec_9806	rs1364692858	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001017649;RCV000639320	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1364692858
Clinvar_Rec_9807	rs587780784	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV001009645;RCV000687810	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780784
Clinvar_Rec_9808	rs587780784	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000130670;RCV000123230;RCV000218355	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	reviewed by expert panel	tagSNP	rs587780784
Clinvar_Rec_9809	rs774875972	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001010074;RCV000461140	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774875972
Clinvar_Rec_9810	rs1555515869	Uncertain significance	Hereditary diffuse gastric cancer	RCV000551677	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555515869
Clinvar_Rec_9811	rs766505270	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000163189;RCV000230370;RCV000859049;RCV000425400	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, conflicting interpretations	tagSNP	rs766505270
Clinvar_Rec_9812	rs556110297	Uncertain significance	Blepharocheilodontic syndrome 1;Endometrial carcinoma;Familial cancer of breast;Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;Hereditary diffuse gastric cancer;Malignant tumor of prostate;Neoplasm of ovary;not provided	RCV000765303;RCV000765303;RCV000765303;RCV000163940;RCV000409091;RCV000765303;RCV000765303;RCV000765303;RCV000757068	MedGen;OMIM;MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;MedGen;OMIM;SNOMED CT;MedGen;OMIM;SNOMED CT	C4551988;119580;Human Phenotype Ontology;C0476089;608089;254878006;MedGen;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen;137215;ORPHA26106;Human Phenotype Ontology;C0376358;176807;399068003;Human Phenotype Ontology;C0919267;167000;123843001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs556110297
Clinvar_Rec_9813	rs1332444039	Uncertain significance	Medulloblastoma	RCV000761002	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	no assertion criteria provided	tagSNP	rs1332444039
Clinvar_Rec_9814	rs587781751	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129957	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781751
Clinvar_Rec_9815	rs150795245	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000566539;RCV000639286;RCV000486692	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150795245
Clinvar_Rec_9816	rs150795245	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000569272;RCV000528041;RCV000478784;RCV000781218	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150795245
Clinvar_Rec_9817	rs982151802	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575779;RCV000466519	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs982151802
Clinvar_Rec_9818	rs1334047600	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772555	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1334047600
Clinvar_Rec_9819	rs587778175	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000129759;RCV000198487;RCV000656821;RCV000120513	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778175
Clinvar_Rec_9820	rs886037822	Pathogenic	Hereditary diffuse gastric cancer	RCV000240878	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs886037822
Clinvar_Rec_9821	rs876659476	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000221160;RCV000978931	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659476
Clinvar_Rec_9822	rs1060501236	Uncertain significance	Hereditary diffuse gastric cancer	RCV000467830	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1060501236
Clinvar_Rec_9823	rs138135866	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000115836;RCV000204585;RCV000858656;RCV000212362	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138135866
Clinvar_Rec_9824	rs138135866	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000562112;RCV000204897	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs138135866
Clinvar_Rec_9825	rs200161607	Likely benign	Hereditary cancer-predisposing syndrome	RCV000772360	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs200161607
Clinvar_Rec_9826	rs200161607	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000163128;RCV000123232;RCV000759723;RCV000252503	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200161607
Clinvar_Rec_9827	rs775730054	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000573258;RCV000553251	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs775730054
Clinvar_Rec_9828	rs878854677	Uncertain significance	Hereditary diffuse gastric cancer	RCV000225994	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs878854677
Clinvar_Rec_9829	rs876658261	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000222658;RCV000639261;RCV000985652	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658261
Clinvar_Rec_9830	rs876661065	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000570338;RCV000539949;RCV000216744	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661065
Clinvar_Rec_9831	rs1555516566	Uncertain significance	Hereditary diffuse gastric cancer	RCV000538831	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555516566
Clinvar_Rec_9832	rs35741240	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773481	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs35741240
Clinvar_Rec_9833	rs35741240	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000132171;RCV000203779;RCV000755230;RCV000174098	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35741240
Clinvar_Rec_9834	rs35741240	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162435;RCV000231043;RCV000430199	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35741240
Clinvar_Rec_9835	rs763292288	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000164574;RCV000206172;RCV000218074	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763292288
Clinvar_Rec_9836	rs1555516589	Likely benign	Hereditary diffuse gastric cancer	RCV000527586	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555516589
Clinvar_Rec_9837	rs786202290	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000165027	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202290
Clinvar_Rec_9838	rs1555516896	Pathogenic	Hereditary diffuse gastric cancer	RCV000639279	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs1555516896
Clinvar_Rec_9839	rs1057522719	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000565514;RCV000463325;RCV000435469	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522719
Clinvar_Rec_9840	rs764379691	Likely benign	Hereditary cancer-predisposing syndrome	RCV000166448	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs764379691
Clinvar_Rec_9841	rs587781276	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided	RCV000128928;RCV000168178;RCV000507739	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781276
Clinvar_Rec_9842	rs757587966	Likely benign	Hereditary diffuse gastric cancer	RCV000526872	MedGen;OMIM;Orphanet	C1708349;137215;ORPHA26106	criteria provided, single submitter	tagSNP	rs757587966
Clinvar_Rec_9843	rs536104508	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000162447;RCV000757065;RCV000602744	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs536104508
Clinvar_Rec_9844	rs771993728	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided;not specified	RCV000163943;RCV000352740;RCV000827333;RCV000505950	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106;MedGen	criteria provided, conflicting interpretations	tagSNP	rs771993728
Clinvar_Rec_9845	rs775922721	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer	RCV000219916;RCV000531308	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;137215;ORPHA26106	criteria provided, multiple submitters, no conflicts	tagSNP	rs775922721
Clinvar_Rec_9846	rs1555540896	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653936	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1555540896
Clinvar_Rec_9847	rs142128800	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653879	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, multiple submitters, no conflicts	tagSNP	rs142128800
Clinvar_Rec_9848	rs199976742	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;not provided	RCV000999703;RCV000237086	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199976742
Clinvar_Rec_9849	rs371184292	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000689500	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs371184292
Clinvar_Rec_9850	rs16970191	Benign/Likely benign	Congenital disorder of glycosylation;not provided;not specified	RCV000271153;RCV000526451;RCV000444100	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs80034177
Clinvar_Rec_9851	rs375492740	Uncertain significance	Hypertyrosinemia	RCV000383187	Human Phenotype Ontology;MedGen	HP;C1879362	criteria provided, single submitter	tagSNP	rs375492740
Clinvar_Rec_9852	rs61753576	Conflicting interpretations of pathogenicity	Miller syndrome;not provided	RCV000281647;RCV000888842	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61753576
Clinvar_Rec_9853	rs2287999	Benign	Miller syndrome	RCV000340401	MedGen;OMIM;Orphanet;SNOMED CT	C0265257;263750;ORPHA246;66038001	criteria provided, single submitter	tagSNP	rs2287999
Clinvar_Rec_9854	rs769603301	Likely pathogenic	Short stature	RCV000736197	Human Phenotype Ontology;MedGen	HP;C0349588	no assertion criteria provided	tagSNP	rs769603301
Clinvar_Rec_9855	rs1567633884	Uncertain significance	Spastic paraplegia	RCV000706323	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs1567633884
Clinvar_Rec_9856	rs759947457	Pathogenic	Spastic paraplegia 35	RCV000023856	MedGen;OMIM	C3496228;612319	no assertion criteria provided	tagSNP	rs759947457
Clinvar_Rec_9857	rs990027087	Uncertain significance	Spastic paraplegia	RCV000706495	Human Phenotype Ontology;MedGen	HP;C0037772	criteria provided, single submitter	tagSNP	rs990027087
Clinvar_Rec_9858	rs1555547940	Uncertain significance	Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12	RCV000650201;RCV000650201	MedGen;OMIM;Orphanet;Orphanet;OMIM;Orphanet	C3463992;308350;ORPHA3175;ORPHA364063;MedGen;614322;ORPHA284282	criteria provided, single submitter	tagSNP	rs1555547940
Clinvar_Rec_9859	rs117642837	Benign/Likely benign	Giant axonal neuropathy 1;not provided	RCV000267843;RCV000833461	MedGen;OMIM	C1850386;256850;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117642837
Clinvar_Rec_9860	rs1462816857	Uncertain significance	Giant axonal neuropathy 1	RCV000641255	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	tagSNP	rs1462816857
Clinvar_Rec_9861	rs150666164	Uncertain significance	Giant axonal neuropathy 1	RCV000279951	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	tagSNP	rs150666164
Clinvar_Rec_9862	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000331226	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs1934
Clinvar_Rec_9863	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000328879	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs57170812
Clinvar_Rec_9864	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000284189	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs61096092
Clinvar_Rec_9865	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000405360	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs41484544
Clinvar_Rec_9866	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000270777	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs16955221
Clinvar_Rec_9867	rs73602876	Likely benign	Giant axonal neuropathy 1	RCV000366563	MedGen;OMIM	C1850386;256850	criteria provided, single submitter	LD derived	rs73602873
Clinvar_Rec_9868	rs200813182	Benign	Familial cold autoinflammatory syndrome 3	RCV000650064	MedGen;OMIM;Orphanet	C3280914;614468;ORPHA300359	criteria provided, single submitter	tagSNP	rs200813182
Clinvar_Rec_9869	rs149621170	Likely benign	Deficiency of malonyl-CoA decarboxylase	RCV000317381	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0342793;248360;ORPHA943;124594007;361203007	criteria provided, single submitter	LD derived	rs74830340
Clinvar_Rec_9870	rs59173426	Likely benign	Deficiency of malonyl-CoA decarboxylase	RCV000317381	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0342793;248360;ORPHA943;124594007;361203007	criteria provided, single submitter	LD derived	rs74830340
Clinvar_Rec_9871	rs140245131	Uncertain significance	Primary ciliary dyskinesia	RCV000378019	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs140245131
Clinvar_Rec_9872	rs1555521110	Uncertain significance	Primary ciliary dyskinesia	RCV000557467	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1555521110
Clinvar_Rec_9873	rs754950357	Uncertain significance	Primary ciliary dyskinesia	RCV000260939	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs754950357
Clinvar_Rec_9874	rs147804813	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000351290;RCV000858594;RCV000591206	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147804813
Clinvar_Rec_9875	rs1567571141	Pathogenic	Distichiasis-lymphedema syndrome	RCV000007673	MedGen;OMIM;Orphanet;SNOMED CT	C0265345;153400;ORPHA33001;8634009	no assertion criteria provided	tagSNP	rs1567571141
Clinvar_Rec_9876	rs113937803	Benign/Likely benign	Brittle cornea syndrome 1;not specified	RCV000356310;RCV000323157	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113937803
Clinvar_Rec_9877	rs201540905	Uncertain significance	Brittle cornea syndrome 1	RCV000393482	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	criteria provided, single submitter	tagSNP	rs201540905
Clinvar_Rec_9878	rs116696830	Benign/Likely benign	Brittle cornea syndrome 1;not specified	RCV000278961;RCV000425811	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs116696830
Clinvar_Rec_9879	rs1555520642	Uncertain significance	Brittle cornea syndrome 1	RCV000656711	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	no assertion criteria provided	tagSNP	rs1555520642
Clinvar_Rec_9880	rs886052423	Uncertain significance	Brittle cornea syndrome 1	RCV000333718	MedGen;OMIM;SNOMED CT	C0268344;229200;31798004	criteria provided, single submitter	tagSNP	rs886052423
Clinvar_Rec_9881	rs537450062	Uncertain significance	Keratoconus 1;not provided	RCV000114801;RCV000487653	MedGen;OMIM	C1835677;148300;MedGen	criteria provided, single submitter	LD derived	rs281865151
Clinvar_Rec_9882	rs373098455	Conflicting interpretations of pathogenicity	Xerocytosis;not provided;not specified	RCV000049238;RCV000756475;RCV001000048	MedGen;OMIM;Orphanet;SNOMED CT	C4551512;194380;ORPHA3202;87994004;MedGen	criteria provided, conflicting interpretations	LD derived	rs202103485
Clinvar_Rec_9883	rs373098455	Conflicting interpretations of pathogenicity	Lymphedema, hereditary, III;Xerocytosis;not provided;not specified	RCV000989648;RCV000049238;RCV000756474;RCV001000047	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225184;616843;MedGen;194380;ORPHA3202;87994004;MedGen	criteria provided, conflicting interpretations	LD derived	rs200970763
Clinvar_Rec_9884	rs934897228	Pathogenic/Likely pathogenic	Lymphedema, hereditary, III;not provided	RCV001029734;RCV000519722	MedGen;OMIM	C4225184;616843;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs934897228
Clinvar_Rec_9885	rs145798311	Conflicting interpretations of pathogenicity	Mucopolysaccharidosis, MPS-IV-A;not provided	RCV000633462;RCV000420201	MedGen;OMIM;Orphanet;SNOMED CT	C0086651;253000;ORPHA309297;7259005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145798311
Clinvar_Rec_9886	rs369377378	Likely benign	Autism spectrum disorder	RCV000716326	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	LD derived	rs376386664
Clinvar_Rec_9887	rs143429968	Likely benign	Autism spectrum disorder	RCV000718568	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs143429968
Clinvar_Rec_9888	rs536187893	Uncertain significance	Hereditary spastic paraplegia 7	RCV000640983	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013	criteria provided, single submitter	LD derived	rs148199060
Clinvar_Rec_9889	rs146847294	Uncertain significance	Fanconi anemia	RCV000546220	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs201672093
Clinvar_Rec_9890	rs55773634	Benign/Likely benign	Fanconi anemia, complementation group A;not provided;not specified	RCV000674807;RCV000227911;RCV000120926	MedGen;OMIM	C3469521;227650;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45441106
Clinvar_Rec_9891	rs55773634	Conflicting interpretations of pathogenicity	Fanconi anemia, complementation group A;not provided;not specified	RCV000664733;RCV000461615;RCV000120962	MedGen;OMIM	C3469521;227650;MedGen	criteria provided, conflicting interpretations	LD derived	rs144420697
Clinvar_Rec_9892	rs1285346388	Likely pathogenic	Fanconi anemia, complementation group A	RCV000664679	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs1285346388
Clinvar_Rec_9893	rs766173155	Uncertain significance	Fanconi anemia	RCV000630861	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs766173155
Clinvar_Rec_9894	rs774565293	Uncertain significance	Fanconi anemia	RCV000689341	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs774565293
Clinvar_Rec_9895	rs1555548507	Uncertain significance	Fanconi anemia	RCV000630933	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs1555548507
Clinvar_Rec_9896	rs1555548512	Pathogenic/Likely pathogenic	Fanconi anemia;Fanconi anemia, complementation group A	RCV000822096;RCV000667754	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227650	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555548512
Clinvar_Rec_9897	rs762526878	Likely pathogenic	Fanconi anemia, complementation group A	RCV000672786	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs762526878
Clinvar_Rec_9898	rs778507965	Pathogenic	Fanconi anemia;Fanconi anemia, complementation group A	RCV001046987;RCV000003612	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227650	criteria provided, single submitter	tagSNP	rs778507965
Clinvar_Rec_9899	rs555210441	Uncertain significance	Fanconi anemia;not specified	RCV000824515;RCV000120965	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, single submitter	tagSNP	rs555210441
Clinvar_Rec_9900	rs555210441	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000342460;RCV000858000	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	LD derived	rs142784426
Clinvar_Rec_9901	rs555210441	Uncertain significance	Fanconi anemia;Fanconi anemia, complementation group A;not specified	RCV000824570;RCV000666660;RCV000120953	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227650;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149775657
Clinvar_Rec_9902	rs555210441	Likely benign	Fanconi anemia, complementation group A;not specified	RCV000664586;RCV000122399	MedGen;OMIM	C3469521;227650;MedGen	criteria provided, single submitter	LD derived	rs56216970
Clinvar_Rec_9903	rs864622188	Pathogenic	Fanconi anemia	RCV000205897	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs864622188
Clinvar_Rec_9904	rs368828271	Likely benign	Fanconi anemia	RCV000631017	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs368828271
Clinvar_Rec_9905	rs752927306	Uncertain significance	Cutaneous malignant melanoma 5	RCV000551588	MedGen;OMIM	C2751295;613099	criteria provided, single submitter	tagSNP	rs752927306
Clinvar_Rec_9906	rs773018940	Uncertain significance	Ciliary dyskinesia, primary, 33	RCV000692192	MedGen;OMIM	C4225230;616726	criteria provided, single submitter	tagSNP	rs773018940
Clinvar_Rec_9907	rs868044	Benign	Ciliary dyskinesia, primary, 33	RCV000526336	MedGen;OMIM	C4225230;616726	criteria provided, single submitter	tagSNP	rs868044
Clinvar_Rec_9908	rs387906971	Pathogenic	Retinitis pigmentosa 13	RCV000023643	MedGen;OMIM	C1838702;600059	no assertion criteria provided	tagSNP	rs387906971
Clinvar_Rec_9909	rs190909610	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000399384	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs190909610
Clinvar_Rec_9910	rs878853387	Likely pathogenic	Retinal dystrophy	RCV000225622	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs878853387
Clinvar_Rec_9911	rs869312908	Pathogenic	Osteogenesis imperfecta, type VI	RCV000210473	MedGen;OMIM	C3279564;613982	criteria provided, single submitter	tagSNP	rs869312908
Clinvar_Rec_9912	rs587784268	Pathogenic	Lissencephaly due to LIS1 mutation	RCV000147039	MedGen;OMIM;Orphanet	C0431375;607432;ORPHA95232	criteria provided, single submitter	tagSNP	rs587784268
Clinvar_Rec_9913	rs538507903	Likely benign	Lissencephaly/Subcortical Band Heterotopia	RCV000279001	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs538507903
Clinvar_Rec_9914	rs1555538148	Uncertain significance	Spongy degeneration of central nervous system	RCV000672434	MedGen;OMIM;Orphanet;SNOMED CT	C0206307;271900;ORPHA141;80544005	criteria provided, single submitter	tagSNP	rs1555538148
Clinvar_Rec_9915	rs761064915	Likely pathogenic	Spongy degeneration of central nervous system	RCV000169117	MedGen;OMIM;Orphanet;SNOMED CT	C0206307;271900;ORPHA141;80544005	criteria provided, single submitter	tagSNP	rs761064915
Clinvar_Rec_9916	rs786205868	Pathogenic	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	RCV000172845	MedGen;OMIM;Orphanet	C2609071;614594;ORPHA659	no assertion criteria provided	tagSNP	rs786205868
Clinvar_Rec_9917	rs7216486	Benign	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	RCV000380409	MedGen;OMIM;Orphanet	C2609071;614594;ORPHA659	criteria provided, single submitter	tagSNP	rs7216486
Clinvar_Rec_9918	rs12946883	Benign	Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	RCV000341015	MedGen;OMIM;Orphanet	C2609071;614594;ORPHA659	criteria provided, single submitter	tagSNP	rs12946883
Clinvar_Rec_9919	rs530371788	Uncertain significance	Cystinosis;Nephropathic cystinosis	RCV000320236;RCV000372303	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	tagSNP	rs530371788
Clinvar_Rec_9920	rs138823792	Uncertain significance	Cystinosis;Nephropathic cystinosis	RCV000319800;RCV000260063	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	tagSNP	rs138823792
Clinvar_Rec_9921	rs1263951539	Uncertain significance	Nephropathic cystinosis	RCV000664507	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs1263951539
Clinvar_Rec_9922	rs779451531	Uncertain significance	Nephropathic cystinosis	RCV000670323	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs779451531
Clinvar_Rec_9923	rs560868487	Uncertain significance	Juvenile nephropathic cystinosis;Nephropathic cystinosis;Ocular cystinosis	RCV000696407;RCV000696407;RCV000696407	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	C0268626;219900;ORPHA411634;22830006;MedGen;219800;MedGen;219750;ORPHA411641	criteria provided, single submitter	tagSNP	rs560868487
Clinvar_Rec_9924	rs371189196	Uncertain significance	Cystinosis;Nephropathic cystinosis	RCV000298054;RCV000276209	MedGen;Orphanet;SNOMED CT;OMIM	C4316899;ORPHA213;190681003;MedGen;219800	criteria provided, single submitter	tagSNP	rs371189196
Clinvar_Rec_9925	rs1057517330	Likely pathogenic	Nephropathic cystinosis	RCV000411915	MedGen;OMIM	C0010690;219800	criteria provided, single submitter	tagSNP	rs1057517330
Clinvar_Rec_9926	rs139922367	Likely benign	Myasthenic syndrome, congenital, 4a, slow-channel	RCV000547397	MedGen;OMIM	C4225413;605809	criteria provided, single submitter	tagSNP	rs139922367
Clinvar_Rec_9927	rs1407243713	Pathogenic	Myasthenic syndrome, congenital, 4a, slow-channel	RCV000706373	MedGen;OMIM	C4225413;605809	criteria provided, single submitter	tagSNP	rs1407243713
Clinvar_Rec_9928	rs4790235	Uncertain significance	Myasthenic syndrome, congenital, 4a, slow-channel	RCV000641736	MedGen;OMIM	C4225413;605809	criteria provided, single submitter	tagSNP	rs4790235
Clinvar_Rec_9929	rs4790235	Benign/Likely benign	Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 4a, slow-channel;not specified	RCV000331786;RCV000548750;RCV000116741	MedGen;OMIM	CN239246;MedGen;605809;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4790235
Clinvar_Rec_9930	rs1567650874	Pathogenic	PARAGANGLIOMAS 6	RCV000785993	MedGen;OMIM	CN260169;618464	no assertion criteria provided	tagSNP	rs1567650874
Clinvar_Rec_9931	rs758990694	Uncertain significance	Ataxia, spastic, 2, autosomal recessive	RCV000645368	MedGen;OMIM;Orphanet	C1969796;611302;ORPHA397946	criteria provided, single submitter	tagSNP	rs758990694
Clinvar_Rec_9932	rs62637008	Uncertain significance	Retinal dystrophy;not provided	RCV001075284;RCV000086213	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs62637008
Clinvar_Rec_9933	rs11650007	Likely benign	Leber congenital amaurosis;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive;not provided	RCV000310197;RCV000393168;RCV000358078;RCV000086211	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;MedGen	criteria provided, single submitter	tagSNP	rs11650007
Clinvar_Rec_9934	rs760233482	Uncertain significance	Cone-Rod Dystrophy, Dominant	RCV000385613	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs760233482
Clinvar_Rec_9935	rs144563288	Uncertain significance	Cone-Rod Dystrophy, Dominant	RCV000384582	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs144563288
Clinvar_Rec_9936	rs1057516714	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency;not provided	RCV000410797;RCV001008029	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057516714
Clinvar_Rec_9937	rs864321651	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000203523	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs864321651
Clinvar_Rec_9938	rs1555529004	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	RCV000670489	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1555529004
Clinvar_Rec_9939	rs578162905	Likely benign	Very long chain acyl-CoA dehydrogenase deficiency;not specified	RCV000671356;RCV000432937	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs528002997
Clinvar_Rec_9940	rs1555551838	Uncertain significance	Myasthenic syndrome, congenital, 2a, slow-channel	RCV000653242	MedGen;OMIM	C4225374;616313	criteria provided, single submitter	tagSNP	rs1555551838
Clinvar_Rec_9941	rs147130840	Likely benign	Very long chain acyl-CoA dehydrogenase deficiency	RCV000671368	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	LD derived	rs372900326
Clinvar_Rec_9942	rs1555525498	Likely pathogenic	Li-Fraumeni syndrome	RCV000499534	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1555525498
Clinvar_Rec_9943	rs121912651	Conflicting interpretations of pathogenicity	Acute myeloid leukemia;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of colon;Carcinoma of esophagus;Chronic lymphocytic leukemia;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma	RCV000435050;RCV000437882;RCV000441711;RCV000425394;RCV000626118;RCV000435353;RCV000425100;RCV000444356;RCV000441010;RCV001026425;RCV000633396;RCV000444519;RCV000427544;RCV000432207;RCV000440334;RCV000424776;RCV000432931;RCV000436038;RCV000420498;RCV000422668;RCV000425782;RCV000418362;RCV000433611;RCV000427948;RCV000444427;RCV000423297;RCV000430735;RCV000417693	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;C0677865;MedGen;114500;269533000;Human Phenotype Ontology;C0152018;ORPHA70482;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;MeSH;C3463824;614286;ORPHA52688;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;C0281361;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610	criteria provided, conflicting interpretations	tagSNP	rs121912651
Clinvar_Rec_9944	rs121912651	Pathogenic	Abnormality of the tongue;Acute myeloid leukemia;Acute myeloid leukemia;Adenocarcinoma of prostate;Adenocarcinoma of stomach;Brainstem glioma;Carcinoma of esophagus;Chronic lymphocytic leukemia;Cognitive impairment;Glioblastoma;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome;Li-Fraumeni syndrome 1;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Medulloblastoma;Multiple myeloma;Myelodysplastic syndrome;Neoplasm;Neoplasm of brain;Neoplasm of the breast;Neoplasm of the large intestine;Ovarian Neoplasms;Ovarian Serous Cystadenocarcinoma;Pancreatic adenocarcinoma;Pancytopenia;Pectus excavatum;Short stature;Small cell lung cancer;Squamous cell carcinoma of the head and neck;Squamous cell carcinoma of the skin;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine Carcinosarcoma;Webbed neck;not provided	RCV000735293;RCV000418495;RCV000735293;RCV000425682;RCV000430543;RCV000424308;RCV000429884;RCV000423804;RCV000735293;RCV000419150;RCV000435803;RCV000115735;RCV000168242;RCV000013140;RCV000419032;RCV000442243;RCV000441091;RCV000440560;RCV000431508;RCV000425083;RCV000438698;RCV000433905;RCV000429777;RCV000440422;RCV000785485;RCV000424415;RCV000444845;RCV000735293;RCV000735293;RCV000735293;RCV000419857;RCV000423184;RCV000441557;RCV000434504;RCV000436398;RCV000431689;RCV000735293;RCV000213057	Human Phenotype Ontology;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;OMIM;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;MedGen;OMIM;MedGen;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen;Orphanet;MedGen	HP;C0878638;Human Phenotype Ontology;D015470;C0023467;601626;ORPHA519;17788007;Human Phenotype Ontology;D015470;C0023467;601626;ORPHA519;17788007;MedGen;C0677865;Human Phenotype Ontology;C0152018;ORPHA70482;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;Human Phenotype Ontology;C0338656;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;ORPHA524;428850001;Gene;C1835398;151623;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D008527;C0025149;155255;ORPHA616;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;MeSH;C3463824;614286;ORPHA52688;Human Phenotype Ontology;D009369;C0027651;108369006;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;CN236629;MedGen;C0281361;Human Phenotype Ontology;C0030312;Human Phenotype Ontology;C0016842;169300;Human Phenotype Ontology;C0349588;Human Phenotype Ontology;D055752;C0149925;182280;ORPHA70573;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0553723;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MedGen;ORPHA213610;Human Phenotype Ontology;C0221217;MedGen	reviewed by expert panel	tagSNP	rs121912651
Clinvar_Rec_9945	rs1555525574	Likely benign	Hereditary cancer-predisposing syndrome	RCV000575556	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555525574
Clinvar_Rec_9946	rs1555526933	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572822	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555526933
Clinvar_Rec_9947	rs922736614	Uncertain significance	Li-Fraumeni syndrome;not provided	RCV000468603;RCV000986054	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs922736614
Clinvar_Rec_9948	rs922736614	Uncertain significance	Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome	RCV000771430;RCV000633393	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA524;428850001	criteria provided, multiple submitters, no conflicts	tagSNP	rs922736614
Clinvar_Rec_9949	rs934176141	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000565816;RCV000827284	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs934176141
Clinvar_Rec_9950	rs1131691020	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000492315	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131691020
Clinvar_Rec_9951	rs1051425969	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583606	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1051425969
Clinvar_Rec_9952	rs747908393	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000580206;RCV000441984	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747908393
Clinvar_Rec_9953	rs943163238	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584204	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs943163238
Clinvar_Rec_9954	rs1567557800	Likely benign	Hereditary cancer-predisposing syndrome	RCV000773425	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567557800
Clinvar_Rec_9955	rs745951235	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776371	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs745951235
Clinvar_Rec_9956	rs569425726	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582654	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs569425726
Clinvar_Rec_9957	rs768964728	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583862	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs768964728
Clinvar_Rec_9958	rs765673441	Likely benign	Hereditary cancer-predisposing syndrome	RCV000776453	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs765673441
Clinvar_Rec_9959	rs1555526952	Likely benign	Hereditary cancer-predisposing syndrome	RCV000581863	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555526952
Clinvar_Rec_9960	rs971879465	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583111	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs971879465
Clinvar_Rec_9961	rs1364767238	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583900	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1364767238
Clinvar_Rec_9962	rs1555635668	Pathogenic	Leber congenital amaurosis 1	RCV000558435	MedGen;OMIM	C2931258;204000	criteria provided, single submitter	tagSNP	rs1555635668
Clinvar_Rec_9963	rs1555635925	Likely pathogenic	Leber congenital amaurosis	RCV000504680	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	no assertion criteria provided	tagSNP	rs1555635925
Clinvar_Rec_9964	rs780420901	Pathogenic	Ichthyosis (disease)	RCV000414766	Human Phenotype Ontology;MedGen;Orphanet	HP;C0020757;ORPHA79354	criteria provided, single submitter	tagSNP	rs780420901
Clinvar_Rec_9965	rs145726040	Uncertain significance	Congenital ichthyosiform erythroderma	RCV000354653	Human Phenotype Ontology;MedGen	HP;C0079583	criteria provided, single submitter	tagSNP	rs145726040
Clinvar_Rec_9966	rs117483056	Conflicting interpretations of pathogenicity	Congenital ichthyosiform erythroderma;not provided	RCV000276430;RCV000887907	Human Phenotype Ontology;MedGen	HP;C0079583;MedGen	criteria provided, conflicting interpretations	tagSNP	rs117483056
Clinvar_Rec_9967	rs1567985822	Likely pathogenic	Autosomal recessive congenital ichthyosis 2	RCV000782405	MedGen;OMIM	C3888093;242100	criteria provided, single submitter	tagSNP	rs1567985822
Clinvar_Rec_9968	rs886053573	Uncertain significance	Congenital ichthyosiform erythroderma	RCV000315149	Human Phenotype Ontology;MedGen	HP;C0079583	criteria provided, single submitter	tagSNP	rs886053573
Clinvar_Rec_9969	rs150206004	Benign	Dyskeratosis congenita;not specified	RCV000227830;RCV000508374	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs62620189
Clinvar_Rec_9970	rs150206004	Conflicting interpretations of pathogenicity	Dyskeratosis Congenita, Recessive;Dyskeratosis congenita;not specified	RCV000310162;RCV000233633;RCV000506611	MedGen;Orphanet;SNOMED CT	CN239315;MedGen;ORPHA1775;74911008;MedGen	criteria provided, conflicting interpretations	LD derived	rs62624978
Clinvar_Rec_9971	rs780809830	Uncertain significance	Dyskeratosis congenita	RCV000696588	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs780809830
Clinvar_Rec_9972	rs397514660	Pathogenic	Cerebroretinal microangiopathy with calcifications and cysts 1	RCV000033249	MedGen;OMIM	C4552029;612199	no assertion criteria provided	tagSNP	rs397514660
Clinvar_Rec_9973	rs73244859	Benign/Likely benign	Dyskeratosis Congenita, Recessive;not provided;not specified	RCV000318525;RCV000459066;RCV000506660	MedGen	CN239315;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73244859
Clinvar_Rec_9974	rs73244859	Likely benign	Dyskeratosis Congenita, Recessive	RCV000338435	MedGen	CN239315	criteria provided, single submitter	LD derived	rs372313776
Clinvar_Rec_9975	rs75477725	Uncertain significance	Hecht syndrome	RCV000346993	MedGen;OMIM;Orphanet;SNOMED CT	C0265226;158300;ORPHA3377;8757006	criteria provided, single submitter	tagSNP	rs75477725
Clinvar_Rec_9976	rs543784627	Uncertain significance	Hecht syndrome	RCV000323405	MedGen;OMIM;Orphanet;SNOMED CT	C0265226;158300;ORPHA3377;8757006	criteria provided, single submitter	LD derived	rs577298464
Clinvar_Rec_9977	rs886052565	Uncertain significance	Inclusion Body Myopathy, Dominant	RCV000387277	MedGen	CN239244	criteria provided, single submitter	tagSNP	rs886052565
Clinvar_Rec_9978	rs886052566	Uncertain significance	Inclusion Body Myopathy, Dominant	RCV000359660	MedGen	CN239244	criteria provided, single submitter	tagSNP	rs886052566
Clinvar_Rec_9979	rs765877777	Uncertain significance	Inclusion Body Myopathy, Dominant	RCV000273767	MedGen	CN239244	criteria provided, single submitter	tagSNP	rs765877777
Clinvar_Rec_9980	rs144338240	Conflicting interpretations of pathogenicity	Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not provided;not specified	RCV000368989;RCV000269877;RCV000875409;RCV000252434	Human Phenotype Ontology;MeSH;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;D001176;C0003886;ORPHA1037;MedGen;193700;ORPHA2053;52616002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144338240
Clinvar_Rec_9981	rs879255230	Pathogenic	ARTHROGRYPOSIS, DISTAL, TYPE 2B3	RCV000015205	MedGen;OMIM	CN258393;618436	no assertion criteria provided	tagSNP	rs879255230
Clinvar_Rec_9982	rs886052590	Uncertain significance	Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome	RCV000343738;RCV000295853	Human Phenotype Ontology;MeSH;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;D001176;C0003886;ORPHA1037;MedGen;193700;ORPHA2053;52616002	criteria provided, single submitter	tagSNP	rs886052590
Clinvar_Rec_9983	rs867177356	Pathogenic	CILIARY DYSKINESIA, PRIMARY, 40	RCV000754660	MedGen;OMIM	C4749028;618300	no assertion criteria provided	tagSNP	rs867177356
Clinvar_Rec_9984	rs149544601	Uncertain significance	Combined oxidative phosphorylation deficiency 17	RCV000651791	MedGen;OMIM;Orphanet	C3809526;615440;ORPHA369913	criteria provided, single submitter	tagSNP	rs149544601
Clinvar_Rec_9985	rs104894556	Pathogenic	Mitochondrial complex IV deficiency	RCV000007959	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	no assertion criteria provided	tagSNP	rs104894556
Clinvar_Rec_9986	rs199843558	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000279385	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs199843558
Clinvar_Rec_9987	rs753100200	Conflicting interpretations of pathogenicity	Mitochondrial complex III deficiency, nuclear type 1;not specified	RCV000334549;RCV000432480	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902;MedGen	criteria provided, conflicting interpretations	tagSNP	rs753100200
Clinvar_Rec_9988	rs73276077	Benign/Likely benign	Mitochondrial complex III deficiency, nuclear type 1;not specified	RCV000394700;RCV000173456	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73276077
Clinvar_Rec_9989	rs73276077	Benign/Likely benign	Mitochondrial complex III deficiency, nuclear type 1;not specified	RCV000292135;RCV000173455	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs60636875
Clinvar_Rec_9990	rs73276077	Benign/Likely benign	Mitochondrial complex III deficiency, nuclear type 1;not specified	RCV000360489;RCV000173457	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73276080
Clinvar_Rec_9991	rs73276077	Benign/Likely benign	Mitochondrial complex III deficiency, nuclear type 1;not provided;not specified	RCV000317077;RCV000676982;RCV000125728	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs58517927
Clinvar_Rec_9992	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000397075	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9993	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000351859	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9994	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000262936	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9995	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000353075	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9996	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000310992	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9997	rs59177775	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000298106	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs59177775
Clinvar_Rec_9998	rs886052639	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000358933	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs886052639
Clinvar_Rec_9999	rs886052641	Uncertain significance	Mitochondrial complex III deficiency, nuclear type 1	RCV000323353	MedGen;OMIM;Orphanet	C3541471;124000;ORPHA254902	criteria provided, single submitter	tagSNP	rs886052641
Clinvar_Rec_10000	rs1555550717	Pathogenic/Likely pathogenic	Common variable immunodeficiency 2;not provided	RCV000648133;RCV001009059	MedGen;OMIM	C3150354;240500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555550717
Clinvar_Rec_10001	rs140246224	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas	RCV000564648;RCV000535547	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001	criteria provided, multiple submitters, no conflicts	tagSNP	rs140246224
Clinvar_Rec_10002	rs932256543	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492207	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs932256543
Clinvar_Rec_10003	rs773482946	Uncertain significance	Multiple fibrofolliculomas	RCV000635536	MedGen;OMIM;Orphanet;SNOMED CT	C0346010;135150;ORPHA122;110985001	criteria provided, single submitter	tagSNP	rs773482946
Clinvar_Rec_10004	rs398124541	Pathogenic	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;not provided	RCV000492401;RCV000239720;RCV000082644	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398124541
Clinvar_Rec_10005	rs1201672985	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000564905	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1201672985
Clinvar_Rec_10006	rs116244276	Benign	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas;Spontaneous pneumothorax;not provided;not specified	RCV000131066;RCV000362997;RCV000268391;RCV000587295;RCV000082624	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61750032
Clinvar_Rec_10007	rs116244276	Benign	Multiple fibrofolliculomas;Spontaneous pneumothorax;not specified	RCV000365505;RCV000273217;RCV000442452	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0346010;135150;ORPHA122;110985001;Human Phenotype Ontology;C0149781;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115413827
Clinvar_Rec_10008	rs774358971	Uncertain significance	Hereditary cancer-predisposing syndrome;Multiple fibrofolliculomas	RCV001023971;RCV000467918	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;135150;ORPHA122;110985001	criteria provided, multiple submitters, no conflicts	tagSNP	rs774358971
Clinvar_Rec_10009	rs765325833	Uncertain significance	Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type	RCV000389215	MedGen	CN239153	criteria provided, single submitter	tagSNP	rs765325833
Clinvar_Rec_10010	rs77565048	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000362767	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs77565048
Clinvar_Rec_10011	rs727503312	Likely pathogenic	Rare genetic deafness	RCV000151402	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs727503312
Clinvar_Rec_10012	rs121908970	Benign/Likely benign	Deafness, with smith-magenis syndrome;not provided;not specified	RCV000007371;RCV000835662;RCV000038978	MedGen	C4016803;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908970
Clinvar_Rec_10013	rs1567649945	Pathogenic	Deafness, autosomal recessive 3	RCV000735769	MedGen;OMIM	C1838263;600316	no assertion criteria provided	tagSNP	rs1567649945
Clinvar_Rec_10014	rs886052678	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000318593	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886052678
Clinvar_Rec_10015	rs200944917	Pathogenic	Mitochondrial diseases;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	RCV000627803;RCV000678503	MedGen;Orphanet;OMIM	C0751651;ORPHA68380;MedGen;618098	no assertion criteria provided	tagSNP	rs200944917
Clinvar_Rec_10016	rs886052741	Uncertain significance	Congenital defect of folate absorption	RCV000317240	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs886052741
Clinvar_Rec_10017	rs886052749	Uncertain significance	Congenital defect of folate absorption	RCV000326291	MedGen;OMIM;Orphanet;SNOMED CT	C0342705;229050;ORPHA90045;62578003	criteria provided, single submitter	tagSNP	rs886052749
Clinvar_Rec_10018	rs770284675	Pathogenic	Renal-hepatic-pancreatic dysplasia 2	RCV000581336	MedGen;OMIM	C3809434;615415	no assertion criteria provided	tagSNP	rs770284675
Clinvar_Rec_10019	rs755153578	Uncertain significance	Malignant tumor of prostate	RCV000203850	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs755153578
Clinvar_Rec_10020	rs876659342	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217582	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659342
Clinvar_Rec_10021	rs886041346	Likely pathogenic	Neurofibromatosis, type 1	RCV000659954	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs886041346
Clinvar_Rec_10022	rs886041346	Pathogenic	Hereditary cancer-predisposing syndrome;not provided	RCV001017955;RCV000324649	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041346
Clinvar_Rec_10023	rs876660028	Likely benign	Hereditary cancer-predisposing syndrome	RCV000215032	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660028
Clinvar_Rec_10024	rs1555608763	Pathogenic	Neurofibromatosis, type 1;not provided	RCV000806565;RCV000518858	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555608763
Clinvar_Rec_10025	rs1555608765	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567701	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555608765
Clinvar_Rec_10026	rs876657544	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001011651;RCV000230221;RCV000214704	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876657544
Clinvar_Rec_10027	rs863224490	Pathogenic	Neurofibromatosis, type 1	RCV000196483	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs863224490
Clinvar_Rec_10028	rs1555614631	Uncertain significance	Neurofibromatosis, type 1	RCV000632417	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555614631
Clinvar_Rec_10029	rs1555614634	Uncertain significance	Neurofibromatosis, type 1	RCV000547974	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555614634
Clinvar_Rec_10030	rs876658565	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218658	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658565
Clinvar_Rec_10031	rs1555533613	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564358	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555533613
Clinvar_Rec_10032	rs773467465	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000164074;RCV000206577;RCV000222814	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773467465
Clinvar_Rec_10033	rs748507988	Likely benign	Hereditary cancer-predisposing syndrome	RCV000222781	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs748507988
Clinvar_Rec_10034	rs1555538535	Likely benign	Neurofibromatosis, type 1	RCV000533274	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555538535
Clinvar_Rec_10035	rs587781813	Conflicting interpretations of pathogenicity	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	RCV000411407;RCV000130084;RCV000255993	MedGen;OMIM;Orphanet;SNOMED CT	C3280345;614291;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587781813
Clinvar_Rec_10036	rs536544621	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001026961;RCV000649713;RCV000780678	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs536544621
Clinvar_Rec_10037	rs536544621	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000165480;RCV000560899	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs536544621
Clinvar_Rec_10038	rs1555567161	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584015	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555567161
Clinvar_Rec_10039	rs730881950	Uncertain significance	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome;not provided	RCV000543677;RCV000160952;RCV000212970	MedGen;OMIM;Orphanet;SNOMED CT	C3280345;614291;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881950
Clinvar_Rec_10040	rs772985579	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573293	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs772985579
Clinvar_Rec_10041	rs777103576	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573640	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs777103576
Clinvar_Rec_10042	rs371350110	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001026702;RCV000236920	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371350110
Clinvar_Rec_10043	rs1567725026	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772572	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567725026
Clinvar_Rec_10044	rs751833940	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000562729;RCV000232217;RCV000600096	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751833940
Clinvar_Rec_10045	rs1060502953	Uncertain significance	Breast-ovarian cancer, familial 4	RCV000468552	MedGen;OMIM	C3280345;614291	criteria provided, single submitter	tagSNP	rs1060502953
Clinvar_Rec_10046	rs1555567178	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000579667	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555567178
Clinvar_Rec_10047	rs1555567197	Likely pathogenic	Breast-ovarian cancer, familial 4	RCV000662899	MedGen;OMIM	C3280345;614291	criteria provided, single submitter	tagSNP	rs1555567197
Clinvar_Rec_10048	rs1567726600	Uncertain significance	Breast-ovarian cancer, familial 4	RCV000701492	MedGen;OMIM	C3280345;614291	criteria provided, single submitter	tagSNP	rs1567726600
Clinvar_Rec_10049	rs786202993	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166093	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202993
Clinvar_Rec_10050	rs1555568494	Uncertain significance	Breast-ovarian cancer, familial 4	RCV000649687	MedGen;OMIM	C3280345;614291	criteria provided, single submitter	tagSNP	rs1555568494
Clinvar_Rec_10051	rs376472075	Benign/Likely benign	Breast-ovarian cancer, familial 4;not specified	RCV000411338;RCV000127701	MedGen;OMIM	C3280345;614291;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376472075
Clinvar_Rec_10052	rs876658332	Uncertain significance	Breast-ovarian cancer, familial 4;Hereditary cancer-predisposing syndrome	RCV000811147;RCV000217595	MedGen;OMIM;Orphanet;SNOMED CT	C3280345;614291;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658332
Clinvar_Rec_10053	rs1555570266	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000575043	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555570266
Clinvar_Rec_10054	rs1555570266	Pathogenic	Breast-ovarian cancer, familial 4	RCV000649682	MedGen;OMIM	C3280345;614291	criteria provided, single submitter	tagSNP	rs1555570266
Clinvar_Rec_10055	rs886052828	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000402687	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs886052828
Clinvar_Rec_10056	rs1555549909	Likely pathogenic	Infantile Refsum's disease;Peroxisome biogenesis disorder 3A	RCV000673039;RCV000673039	MedGen;OMIM;SNOMED CT;OMIM	C3550693;266510;238062008;MedGen;614859	criteria provided, single submitter	tagSNP	rs1555549909
Clinvar_Rec_10057	rs2240903	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000337909	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs147182821
Clinvar_Rec_10058	rs749370057	Uncertain significance	Familial hypoplastic, glomerulocystic kidney;not provided	RCV000329672;RCV000593558	MedGen;OMIM;SNOMED CT	C0431693;137920;253864004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749370057
Clinvar_Rec_10059	rs281875234	Pathogenic	Congenital stationary night blindness, type 1E;not provided	RCV000024199;RCV000059653	MedGen;OMIM	C3281215;614565;MedGen	no assertion criteria provided	tagSNP	rs281875234
Clinvar_Rec_10060	rs863223351	Likely pathogenic	Childhood-Onset Schizophrenia	RCV000202325	MedGen	C0036346	criteria provided, single submitter	tagSNP	rs863223351
Clinvar_Rec_10061	rs71369784	Likely benign	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive	RCV000323579;RCV000270978;RCV000380565	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, single submitter	LD derived	rs3194794
Clinvar_Rec_10062	rs375310569	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2G;Dilated cardiomyopathy 1N;Dilated cardiomyopathy 1N;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided	RCV000660576;RCV000560917;RCV000660576;RCV000991354;RCV000560917;RCV000487833	MedGen;OMIM;Orphanet;OMIM;OMIM;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	C1866008;601954;ORPHA34514;MedGen;607487;MedGen;607487;Human Phenotype Ontology;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375310569
Clinvar_Rec_10063	rs104894655	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2G;Dilated cardiomyopathy 1N;Primary dilated cardiomyopathy	RCV000005861;RCV000037790;RCV000211741	MedGen;OMIM;Orphanet;OMIM;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C1866008;601954;ORPHA34514;MedGen;607487;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs104894655
Clinvar_Rec_10064	rs374886575	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000769482;RCV000538567;RCV000538567;RCV000488122;RCV000037795	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;607487;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374886575
Clinvar_Rec_10065	rs374886575	Uncertain significance	Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified	RCV001069133;RCV001069133;RCV000156511	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C4225408;607487;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374886575
Clinvar_Rec_10066	rs869312816	Pathogenic	Hyperphosphatasia with mental retardation syndrome 4	RCV000210271	MedGen;OMIM	C3810354;615716	no assertion criteria provided	tagSNP	rs869312816
Clinvar_Rec_10067	rs1567871748	Likely pathogenic	Hyperphosphatasia with mental retardation syndrome 4	RCV000709689	MedGen;OMIM	C3810354;615716	no assertion criteria provided	tagSNP	rs1567871748
Clinvar_Rec_10068	rs1242562412	Pathogenic	Inborn genetic diseases	RCV000622528	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1242562412
Clinvar_Rec_10069	rs104886010	not provided	Neoplasm of ovary	RCV000119349	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0919267;167000;123843001	no assertion provided	tagSNP	rs104886010
Clinvar_Rec_10070	rs537481853	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000769482;RCV000538567;RCV000538567;RCV000488122;RCV000037795	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;607487;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs374886575
Clinvar_Rec_10071	rs537481853	Uncertain significance	Dilated cardiomyopathy 1N;Primary familial hypertrophic cardiomyopathy;not specified	RCV001069133;RCV001069133;RCV000156511	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C4225408;607487;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs374886575
Clinvar_Rec_10072	rs1555605231	Uncertain significance	Meningioma, familial	RCV000638921	MedGen;OMIM;Orphanet	C3551915;607174;ORPHA263662	criteria provided, single submitter	tagSNP	rs1555605231
Clinvar_Rec_10073	rs753893753	Uncertain significance	Epidermolytic palmoplantar keratoderma	RCV000303150	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1721006;144200;ORPHA2199	criteria provided, single submitter	tagSNP	rs753893753
Clinvar_Rec_10074	rs60399023	Pathogenic	Epidermolysis bullosa simplex;not provided	RCV000679886;RCV000056717	MedGen;Orphanet;SNOMED CT	C0079298;ORPHA304;67144006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs60399023
Clinvar_Rec_10075	rs59856285	Pathogenic	Pachyonychia congenita 1;Palmoplantar keratoderma, nonepidermolytic, focal;not provided	RCV000578284;RCV000015705;RCV000057038	MedGen;OMIM;OMIM	C1706595;167200;MedGen;613000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs59856285
Clinvar_Rec_10076	rs58730926	Pathogenic	Pachyonychia congenita 2;Steatocystoma multiplex;not provided	RCV000114415;RCV000015694;RCV000056513	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C1721007;167210;Human Phenotype Ontology;C0259771;184500;ORPHA841;109433009;MedGen	criteria provided, single submitter	tagSNP	rs58730926
Clinvar_Rec_10077	rs182776669	Uncertain significance	Epidermolytic palmoplantar keratoderma	RCV000371776	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1721006;144200;ORPHA2199	criteria provided, single submitter	LD derived	rs142173628
Clinvar_Rec_10078	rs1060502678	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Naxos disease	RCV000459086;RCV000459086	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217	criteria provided, single submitter	tagSNP	rs1060502678
Clinvar_Rec_10079	rs752594411	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Naxos disease;not provided	RCV000765351;RCV000765351;RCV000171957	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752594411
Clinvar_Rec_10080	rs782354654	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiovascular phenotype;Naxos disease	RCV000545274;RCV000618150;RCV000545274	MedGen;OMIM;OMIM;Orphanet	C1969081;611528;MedGen;601214;ORPHA34217	criteria provided, multiple submitters, no conflicts	tagSNP	rs782354654
Clinvar_Rec_10081	rs8078775	Benign/Likely benign	Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta, type XI;not provided;not specified	RCV000406477;RCV000844871;RCV000959412;RCV001000228	MedGen;OMIM	CN239451;MedGen;610968;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs8078775
Clinvar_Rec_10082	rs1046403	Benign	Osteogenesis Imperfecta, Recessive	RCV000387842	MedGen	CN239451	criteria provided, single submitter	LD derived	rs1043002
Clinvar_Rec_10083	rs1046403	Benign	Osteogenesis Imperfecta, Recessive	RCV000293466	MedGen	CN239451	criteria provided, single submitter	LD derived	rs1043005
Clinvar_Rec_10084	rs1046403	Benign	Osteogenesis Imperfecta, Recessive	RCV000375077	MedGen	CN239451	criteria provided, single submitter	LD derived	rs1043007
Clinvar_Rec_10085	rs754306251	Uncertain significance	Hyper-IgE syndrome	RCV000262227	MedGen;Orphanet	CN236381;ORPHA331223	criteria provided, single submitter	tagSNP	rs754306251
Clinvar_Rec_10086	rs780393027	Uncertain significance	Hyper-IgE syndrome	RCV000326708	MedGen;Orphanet	CN236381;ORPHA331223	criteria provided, single submitter	tagSNP	rs780393027
Clinvar_Rec_10087	rs143895719	Uncertain significance	Familial partial lipodystrophy	RCV000263356	MedGen;Orphanet;SNOMED CT	C0271694;ORPHA98306;49292002	criteria provided, single submitter	tagSNP	rs143895719
Clinvar_Rec_10088	rs7207285	Benign	Familial partial lipodystrophy	RCV000316293	MedGen;Orphanet;SNOMED CT	C0271694;ORPHA98306;49292002	criteria provided, single submitter	tagSNP	rs7207285
Clinvar_Rec_10089	rs569556836	Uncertain significance	Laron syndrome with immunodeficiency	RCV000642178	MedGen;OMIM;Orphanet	C1855548;245590;ORPHA220465	criteria provided, single submitter	LD derived	rs142918872
Clinvar_Rec_10090	rs1238423614	Uncertain significance	Mucopolysaccharidosis, MPS-III-B	RCV000671623	MedGen;OMIM;Orphanet;SNOMED CT	C0086648;252920;ORPHA79270;59990008	criteria provided, single submitter	tagSNP	rs1238423614
Clinvar_Rec_10091	rs878853221	Pathogenic	Congenital hypomyelinating neuropathy 3	RCV000722098	MedGen;OMIM	C4748608;618186	no assertion criteria provided	tagSNP	rs878853221
Clinvar_Rec_10092	rs570146382	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000529440	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	LD derived	rs273898682
Clinvar_Rec_10093	rs570146382	Benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified	RCV000111817;RCV000132175;RCV000240751;RCV000047783;RCV000485167	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	LD derived	rs273898682
Clinvar_Rec_10094	rs570146382	Benign	Breast-ovarian cancer, familial 1;not provided;not specified	RCV000111498;RCV000867026;RCV000430917	MedGen;OMIM	C2676676;604370;MedGen	reviewed by expert panel	LD derived	rs273898669
Clinvar_Rec_10095	rs766220456	Uncertain significance	Pseudohypoaldosteronism type 2A	RCV000347879	MedGen;OMIM;Orphanet;SNOMED CT	C1840389;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs766220456
Clinvar_Rec_10096	rs769815091	Uncertain significance	Pseudohypoaldosteronism type 2A	RCV000402811	MedGen;OMIM;Orphanet;SNOMED CT	C1840389;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs769815091
Clinvar_Rec_10097	rs192318271	Benign	Breast-ovarian cancer, familial 1	RCV000255828	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs186268206
Clinvar_Rec_10098	rs371611000	Uncertain significance	Glycogen storage disease, type I	RCV000397508	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs371611000
Clinvar_Rec_10099	rs1457925404	Likely pathogenic	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	RCV000668900	MedGen;OMIM;Orphanet	C2919796;232200;ORPHA79258	criteria provided, single submitter	tagSNP	rs1457925404
Clinvar_Rec_10100	rs548787621	Uncertain significance	Glycogen storage disease, type I	RCV000288530	MedGen;Orphanet;SNOMED CT	C0017920;ORPHA364;7265005	criteria provided, single submitter	tagSNP	rs548787621
Clinvar_Rec_10101	rs1555574034	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000509816	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555574034
Clinvar_Rec_10102	rs1567756242	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777498	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567756242
Clinvar_Rec_10103	rs1567764182	Pathogenic	Breast-ovarian cancer, familial 1	RCV000112586	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs1567764182
Clinvar_Rec_10104	rs886040284	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256573	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040284
Clinvar_Rec_10105	rs370299792	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000412010;RCV000771186;RCV000123281;RCV000425951	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370299792
Clinvar_Rec_10106	rs1567774676	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV001072828;RCV000772706	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567774676
Clinvar_Rec_10107	rs397509155	not provided	Familial cancer of breast	RCV000577625	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs397509155
Clinvar_Rec_10108	rs1057519558	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000661024;RCV000417027	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs1057519558
Clinvar_Rec_10109	rs1057519558	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000537501	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1057519558
Clinvar_Rec_10110	rs1057519558	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000549731;RCV000579534	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057519558
Clinvar_Rec_10111	rs1057521982	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000495117;RCV000561770;RCV000544239;RCV000444969	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs1057521982
Clinvar_Rec_10112	rs1458197554	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772574	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1458197554
Clinvar_Rec_10113	rs397508979	Pathogenic	Neoplasm of the breast	RCV000240805	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D001943;C1458155;ORPHA180250;126926005	criteria provided, single submitter	tagSNP	rs397508979
Clinvar_Rec_10114	rs397508978	Pathogenic	Breast-ovarian cancer, familial 1;Familial cancer of breast	RCV000661379;RCV000577139	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397508978
Clinvar_Rec_10115	rs397508978	Pathogenic	Breast-ovarian cancer, familial 1;Familial cancer of breast	RCV000660957;RCV000577516	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397508978
Clinvar_Rec_10116	rs1567795186	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773753	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1567795186
Clinvar_Rec_10117	rs80357554	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome	RCV000111757;RCV000509722	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357554
Clinvar_Rec_10118	rs397508930	Pathogenic	Breast-ovarian cancer, familial 1;Familial cancer of breast	RCV000661234;RCV000577783	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397508930
Clinvar_Rec_10119	rs876660543	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000695958;RCV000215962;RCV000484472	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660543
Clinvar_Rec_10120	rs80357723	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000111675;RCV000132331;RCV000657213	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357723
Clinvar_Rec_10121	rs753940026	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166955	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs753940026
Clinvar_Rec_10122	rs587782747	Uncertain significance	Breast-ovarian cancer, familial 1;FANCONI ANEMIA, COMPLEMENTATION GROUP S;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Pancreatic cancer 4	RCV000764127;RCV000764127;RCV000764127;RCV000475232;RCV000582697;RCV000764127	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;Orphanet;SNOMED CT;OMIM	C2676676;604370;MedGen;617883;MedGen;114480;ORPHA227535;254843006;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen;614320	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782747
Clinvar_Rec_10123	rs587782747	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000132253	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587782747
Clinvar_Rec_10124	rs1567806027	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000697900	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1567806027
Clinvar_Rec_10125	rs765432756	Likely benign	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000211001;RCV000163148;RCV000587830;RCV000179931	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs765432756
Clinvar_Rec_10126	rs80357639	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000112725;RCV000496669;RCV000222355	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357639
Clinvar_Rec_10127	rs886037784	Pathogenic	Breast-ovarian cancer, familial 1;Neoplasm of the breast	RCV000661020;RCV000240777	MedGen;OMIM;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	reviewed by expert panel	tagSNP	rs886037784
Clinvar_Rec_10128	rs1567806048	Pathogenic	Hereditary breast and ovarian cancer syndrome	RCV000698243	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs1567806048
Clinvar_Rec_10129	rs886040276	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256813	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040276
Clinvar_Rec_10130	rs879254223	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;not provided	RCV000661308;RCV000496367;RCV000235461	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen	reviewed by expert panel	tagSNP	rs879254223
Clinvar_Rec_10131	rs752940034	Likely benign	Breast-ovarian cancer, familial 1	RCV000495638	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs752940034
Clinvar_Rec_10132	rs80357872	Pathogenic	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000735470;RCV000083216;RCV000048817;RCV000130785;RCV000212158	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357872
Clinvar_Rec_10133	rs80356947	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000077602;RCV000496876	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80356947
Clinvar_Rec_10134	rs587781487	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000241064;RCV000168444;RCV000129450;RCV000236963	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs587781487
Clinvar_Rec_10135	rs1060505052	Pathogenic	Breast-ovarian cancer, familial 1	RCV000477866	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs1060505052
Clinvar_Rec_10136	rs80357325	Benign	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000112723;RCV000048786;RCV000132127;RCV000483759	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	tagSNP	rs80357325
Clinvar_Rec_10137	rs80357133	Pathogenic	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000735469;RCV000112722;RCV000048752;RCV000775189	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357133
Clinvar_Rec_10138	rs273901743	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112721	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs273901743
Clinvar_Rec_10139	rs886040258	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256648	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040258
Clinvar_Rec_10140	rs886040263	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772851	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs886040263
Clinvar_Rec_10141	rs886040263	Pathogenic	Breast-ovarian cancer, familial 1	RCV000257613	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886040263
Clinvar_Rec_10142	rs397509206	Pathogenic	Breast-ovarian cancer, familial 1	RCV000241069	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs397509206
Clinvar_Rec_10143	rs80357551	Pathogenic	Breast-ovarian cancer, familial 1	RCV000112719	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357551
Clinvar_Rec_10144	rs863224512	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000241223;RCV000197143	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs863224512
Clinvar_Rec_10145	rs1555594889	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566234	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555594889
Clinvar_Rec_10146	rs80357384	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112718	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs80357384
Clinvar_Rec_10147	rs397509202	Pathogenic	Breast-ovarian cancer, familial 1;Familial cancer of breast	RCV000660969;RCV000577313	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;114480;ORPHA227535;254843006	reviewed by expert panel	tagSNP	rs397509202
Clinvar_Rec_10148	rs1369043501	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000989909;RCV000637637;RCV001023205;RCV000759551;RCV000779868	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1369043501
Clinvar_Rec_10149	rs80357708	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000077588;RCV000781011;RCV000162880	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	reviewed by expert panel	tagSNP	rs80357708
Clinvar_Rec_10150	rs80357708	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256637	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs80357708
Clinvar_Rec_10151	rs769213707	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001023176;RCV000480995	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs769213707
Clinvar_Rec_10152	rs769213707	Likely benign	Breast-ovarian cancer, familial 1	RCV000241022	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs769213707
Clinvar_Rec_10153	rs1060504575	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001023137;RCV000472631;RCV000602783	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060504575
Clinvar_Rec_10154	rs1060504575	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773594	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060504575
Clinvar_Rec_10155	rs876660138	Conflicting interpretations of pathogenicity	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000530001;RCV000215915	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660138
Clinvar_Rec_10156	rs62625285	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome	RCV000238866;RCV000637674;RCV000223465	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs62625285
Clinvar_Rec_10157	rs886037976	Pathogenic	Breast-ovarian cancer, familial 1	RCV000241258	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs886037976
Clinvar_Rec_10158	rs397509192	not provided	Familial cancer of breast	RCV000577602	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion provided	tagSNP	rs397509192
Clinvar_Rec_10159	rs483353105	Uncertain significance	Breast-ovarian cancer, familial 1	RCV000112716	MedGen;OMIM	C2676676;604370	no assertion criteria provided	tagSNP	rs483353105
Clinvar_Rec_10160	rs80357045	Uncertain significance	Breast-ovarian cancer, familial 1;Hereditary cancer-predisposing syndrome;not provided	RCV000112715;RCV000567369;RCV000589839	MedGen;OMIM;Orphanet;SNOMED CT	C2676676;604370;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80357045
Clinvar_Rec_10161	rs1258746087	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021907;RCV000679694	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1258746087
Clinvar_Rec_10162	rs751078452	Uncertain significance	Hereditary breast and ovarian cancer syndrome	RCV000197893	MeSH;MedGen;Orphanet	D061325;C0677776;ORPHA145	criteria provided, single submitter	tagSNP	rs751078452
Clinvar_Rec_10163	rs886040200	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000257307;RCV000496215	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs886040200
Clinvar_Rec_10164	rs80357750	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome	RCV000111768;RCV000496845	MedGen;OMIM;MedGen;Orphanet	C2676676;604370;MeSH;C0677776;ORPHA145	reviewed by expert panel	tagSNP	rs80357750
Clinvar_Rec_10165	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191168	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs78612526
Clinvar_Rec_10166	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191172	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs116585239
Clinvar_Rec_10167	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000112639	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176307
Clinvar_Rec_10168	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191211	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs114112971
Clinvar_Rec_10169	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191236	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176280
Clinvar_Rec_10170	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191252	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs115522763
Clinvar_Rec_10171	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191307	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs138082324
Clinvar_Rec_10172	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191359	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176182
Clinvar_Rec_10173	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191366	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176174
Clinvar_Rec_10174	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000254876	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs138544133
Clinvar_Rec_10175	rs114248958	Benign	Breast and/or ovarian cancer;Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000735498;RCV000111865;RCV000047846;RCV000162590;RCV000034732;RCV000120273	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	CN221562;MedGen;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs56082113
Clinvar_Rec_10176	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191406	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs201060127
Clinvar_Rec_10177	rs114248958	Benign	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000191438;RCV000168480;RCV000677096;RCV000506241	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	reviewed by expert panel	LD derived	rs8176128
Clinvar_Rec_10178	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191452	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176119
Clinvar_Rec_10179	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191474	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176106
Clinvar_Rec_10180	rs114248958	Benign	Breast-ovarian cancer, familial 1	RCV000191512	MedGen;OMIM	C2676676;604370	reviewed by expert panel	LD derived	rs8176085
Clinvar_Rec_10181	rs541299872	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000473299;RCV000563599;RCV000590268	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201596327
Clinvar_Rec_10182	rs772798486	Pathogenic	Klippel-Feil syndrome 2, autosomal recessive	RCV000032704	MedGen;OMIM	C1859209;214300	no assertion criteria provided	tagSNP	rs772798486
Clinvar_Rec_10183	rs104894607	Pathogenic	Hyperammonemia, type III	RCV000002536	MedGen;OMIM;Orphanet;SNOMED CT	C0268543;237310;ORPHA927;57119000	no assertion criteria provided	tagSNP	rs104894607
Clinvar_Rec_10184	rs551511891	Uncertain significance	Ceroid lipofuscinosis, neuronal, 11;Seizures	RCV000817892;RCV000720531	MedGen;OMIM;Orphanet;MedGen	C3539123;614706;ORPHA314629;Human Phenotype Ontology;C0036572	criteria provided, multiple submitters, no conflicts	LD derived	rs202006119
Clinvar_Rec_10185	rs56361140	Pathogenic	Spherocytosis type 4	RCV000019339	MedGen;OMIM	C2675212;612653	no assertion criteria provided	tagSNP	rs56361140
Clinvar_Rec_10186	rs748147151	Uncertain significance	Frontotemporal dementia	RCV000315887	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338451;600274;ORPHA282;230270009	criteria provided, single submitter	tagSNP	rs748147151
Clinvar_Rec_10187	rs1022228740	Uncertain significance	Seizures	RCV000717430	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1022228740
Clinvar_Rec_10188	rs377753373	Uncertain significance	Glanzmann thrombasthenia	RCV000400716	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005	criteria provided, single submitter	tagSNP	rs377753373
Clinvar_Rec_10189	rs114232872	Conflicting interpretations of pathogenicity	Glanzmann thrombasthenia;not provided	RCV000401509;RCV000861033	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114232872
Clinvar_Rec_10190	rs114232872	Conflicting interpretations of pathogenicity	Glanzmann thrombasthenia;not provided	RCV000297261;RCV000861034	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005;MedGen	criteria provided, conflicting interpretations	LD derived	rs79289329
Clinvar_Rec_10191	rs143967758	Conflicting interpretations of pathogenicity	Glanzmann thrombasthenia;not provided	RCV000312553;RCV000863530	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143967758
Clinvar_Rec_10192	rs539029485	Pathogenic	Alexander Disease;not provided	RCV000017552;RCV000056848	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	criteria provided, single submitter	LD derived	rs121909717
Clinvar_Rec_10193	rs146298944	Benign/Likely benign	Alexander Disease;not provided	RCV000299279;RCV000904753	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146298944
Clinvar_Rec_10194	rs267607512	Pathogenic	Alexander Disease;not provided	RCV000192177;RCV000056837	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	no assertion criteria provided	tagSNP	rs267607512
Clinvar_Rec_10195	rs62636501	Pathogenic	Alexander Disease;not provided	RCV000192162;RCV000056824	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	no assertion criteria provided	tagSNP	rs62636501
Clinvar_Rec_10196	rs60825166	Pathogenic	Alexander Disease;not provided	RCV000192160;RCV000056822	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	no assertion criteria provided	tagSNP	rs60825166
Clinvar_Rec_10197	rs552435885	Pathogenic	Alexander Disease;not provided	RCV000017552;RCV000056848	MedGen;OMIM;Orphanet;SNOMED CT	C0270726;203450;ORPHA58;81854007;MedGen	criteria provided, single submitter	LD derived	rs121909717
Clinvar_Rec_10198	rs63750349	Pathogenic	Frontotemporal dementia;not provided	RCV000015336;RCV000084517	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338451;600274;ORPHA282;230270009;MedGen	criteria provided, single submitter	tagSNP	rs63750349
Clinvar_Rec_10199	rs138490347	Conflicting interpretations of pathogenicity	Koolen-de Vries syndrome;not specified	RCV000530673;RCV000435374	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138490347
Clinvar_Rec_10200	rs1037585739	Conflicting interpretations of pathogenicity	Koolen-de Vries syndrome;not specified	RCV001066773;RCV000425301	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1037585739
Clinvar_Rec_10201	rs761819132	Likely benign	Koolen-de Vries syndrome	RCV000554499	MedGen;OMIM;Orphanet;Orphanet	C1864871;610443;ORPHA363958;ORPHA96169	criteria provided, single submitter	tagSNP	rs761819132
Clinvar_Rec_10202	rs786205887	Likely pathogenic	Exstrophy-epispadias complex	RCV000172899	MedGen;Orphanet	C1838703;ORPHA322	no assertion criteria provided	tagSNP	rs786205887
Clinvar_Rec_10203	rs197922	Benign	Progressive myoclonic epilepsy;Progressive myoclonic epilepsy, X-linked;Seizures;not provided;not specified	RCV000276471;RCV000989942;RCV000715155;RCV000711830;RCV000117154	MedGen;Orphanet;SNOMED CT;OMIM;MedGen	C0751778;ORPHA98261;267581004;MedGen;310370;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs197922
Clinvar_Rec_10204	rs886053091	Uncertain significance	Glanzmann thrombasthenia	RCV000340893	MedGen;OMIM;Orphanet;SNOMED CT	C0040015;273800;ORPHA849;32942005	criteria provided, single submitter	tagSNP	rs886053091
Clinvar_Rec_10205	rs189532226	Uncertain significance	Pyridoxal phosphate-responsive seizures	RCV000406230	MedGen;OMIM;Orphanet	C1864723;610090;ORPHA79096	criteria provided, single submitter	LD derived	rs556101569
Clinvar_Rec_10206	rs372121677	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000561193;RCV001063850	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372121677
Clinvar_Rec_10207	rs373766741	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574560	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs373766741
Clinvar_Rec_10208	rs1555558583	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573974	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555558583
Clinvar_Rec_10209	rs587780164	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001023384;RCV000115973	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587780164
Clinvar_Rec_10210	rs567874904	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant;Osteogenesis imperfecta type I	RCV000338677;RCV000313055;RCV000407503;RCV000798385	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen;166200;ORPHA216796;385482004	criteria provided, multiple submitters, no conflicts	LD derived	rs138557594
Clinvar_Rec_10211	rs147702169	Uncertain significance	Amelogenesis Imperfecta, Dominant;not provided	RCV000308787;RCV000379760	MedGen	CN239159;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147702169
Clinvar_Rec_10212	rs149296410	Benign/Likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D;not specified	RCV000293268;RCV000359009	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149296410
Clinvar_Rec_10213	rs776195527	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D;not provided	RCV000329513;RCV000595057	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776195527
Clinvar_Rec_10214	rs757888349	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	RCV000169146	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62	criteria provided, multiple submitters, no conflicts	tagSNP	rs757888349
Clinvar_Rec_10215	rs200137051	Conflicting interpretations of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2D;Hypertrophic cardiomyopathy;not provided	RCV000391706;RCV000852722;RCV000077939	MedGen;OMIM;Orphanet;MedGen;Orphanet	C2936332;608099;ORPHA62;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200137051
Clinvar_Rec_10216	rs753650776	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D;not provided	RCV000411266;RCV000593004	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, single submitter	tagSNP	rs753650776
Clinvar_Rec_10217	rs574376340	Conflicting interpretations of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2D;not provided	RCV000675090;RCV000486077	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, conflicting interpretations	tagSNP	rs574376340
Clinvar_Rec_10218	rs574376340	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D;not provided	RCV000804361;RCV000733719	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs574376340
Clinvar_Rec_10219	rs200166783	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	RCV000553098	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62	criteria provided, multiple submitters, no conflicts	tagSNP	rs200166783
Clinvar_Rec_10220	rs200166783	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D;not provided	RCV000795613;RCV000597792	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200166783
Clinvar_Rec_10221	rs183964744	Likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D;not specified	RCV000555786;RCV000610896	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs183964744
Clinvar_Rec_10222	rs73987439	Likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D	RCV000381061	MedGen;OMIM;Orphanet	C2936332;608099;ORPHA62	criteria provided, single submitter	tagSNP	rs73987439
Clinvar_Rec_10223	rs886053159	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant	RCV000364673;RCV000265415;RCV000320492	MedGen;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen	criteria provided, single submitter	tagSNP	rs886053159
Clinvar_Rec_10224	rs1555572239	Pathogenic	Osteogenesis imperfecta type I	RCV000528176	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555572239
Clinvar_Rec_10225	rs1555572239	Pathogenic	Osteogenesis imperfecta type I;not provided	RCV000631486;RCV000578505	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555572239
Clinvar_Rec_10226	rs72654799	Conflicting interpretations of pathogenicity	Osteogenesis imperfecta type I;not provided	RCV000794277;RCV000485287	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72654799
Clinvar_Rec_10227	rs756337302	Uncertain significance	Ehlers-Danlos syndrome, type 7A;Infantile cortical hyperostosis;Osteogenesis Imperfecta, Dominant	RCV000343018;RCV000392300;RCV000283301	MedGen;OMIM;Orphanet;SNOMED CT	C3508773;MedGen;114000;ORPHA1310;24752008;MedGen	criteria provided, single submitter	tagSNP	rs756337302
Clinvar_Rec_10228	rs72651620	Pathogenic	Osteogenesis imperfecta;Osteogenesis imperfecta type I	RCV000722159;RCV000539052	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001;MedGen;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs72651620
Clinvar_Rec_10229	rs1555575068	Uncertain significance	Osteogenesis imperfecta type I	RCV000548441	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs1555575068
Clinvar_Rec_10230	rs1567964995	Uncertain significance	Spinocerebellar ataxia 42	RCV000714702	MedGen;OMIM;Orphanet	C4225205;616795;ORPHA458803	criteria provided, single submitter	tagSNP	rs1567964995
Clinvar_Rec_10231	rs775558298	Uncertain significance	Bardet-Biedl syndrome;Bardet-Biedl syndrome 13;Joubert syndrome;Joubert syndrome 28;Meckel syndrome type 1;Meckel-Gruber syndrome;Meckel-Gruber syndrome;not provided	RCV000319889;RCV000666621;RCV000462710;RCV000666621;RCV000666621;RCV000274828;RCV000462710;RCV000593412	MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen;615990;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen;617121;MedGen;249000;MedGen;ORPHA564;29076005;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775558298
Clinvar_Rec_10232	rs863225206	Pathogenic	Joubert syndrome	RCV000201583	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs863225206
Clinvar_Rec_10233	rs990955357	Uncertain significance	MKS1-Related Disorders	RCV000778505	MedGen	CN239382	criteria provided, single submitter	tagSNP	rs990955357
Clinvar_Rec_10234	rs201957874	Uncertain significance	Joubert syndrome;Meckel-Gruber syndrome;not provided	RCV001063186;RCV001063186;RCV000729805	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201957874
Clinvar_Rec_10235	rs759149207	Uncertain significance	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	RCV000411003;RCV000409780;RCV000164977;RCV000484927	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3150659;613399;MedGen;613390;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759149207
Clinvar_Rec_10236	rs587781287	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583605	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781287
Clinvar_Rec_10237	rs587781287	Pathogenic	Breast-ovarian cancer, familial 3;Fanconi anemia, complementation group O;Hereditary cancer-predisposing syndrome;not provided	RCV000501924;RCV000230603;RCV000128973;RCV000483841	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3150659;613399;MedGen;613390;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781287
Clinvar_Rec_10238	rs121908391	Pathogenic	Mulibrey nanism syndrome	RCV000005557	MedGen;OMIM;Orphanet;SNOMED CT	C0524582;253250;ORPHA2576;81604003	no assertion criteria provided	tagSNP	rs121908391
Clinvar_Rec_10239	rs867271887	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000269653	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs867271887
Clinvar_Rec_10240	rs114037902	Likely benign	Fanconi anemia;Neoplasm of the breast	RCV000341342;RCV000284011	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005	criteria provided, single submitter	tagSNP	rs114037902
Clinvar_Rec_10241	rs1057523711	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001013040;RCV000422543	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523711
Clinvar_Rec_10242	rs1555603626	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636120;RCV000636120	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555603626
Clinvar_Rec_10243	rs876659057	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome	RCV000823535;RCV000823535;RCV000217638	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;609054;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659057
Clinvar_Rec_10244	rs1555607764	Likely benign	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636213;RCV000636213	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555607764
Clinvar_Rec_10245	rs1555617821	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000529399;RCV000529399	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555617821
Clinvar_Rec_10246	rs772283705	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567086;RCV000936987	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772283705
Clinvar_Rec_10247	rs1555617829	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000571146	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555617829
Clinvar_Rec_10248	rs1555617834	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000561824	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555617834
Clinvar_Rec_10249	rs1555617859	Likely benign	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000636218;RCV000636218	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555617859
Clinvar_Rec_10250	rs1555617859	Uncertain significance	Familial cancer of breast;Fanconi anemia, complementation group J	RCV000707118;RCV000707118	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0006142;114480;ORPHA227535;254843006;MedGen;609054	criteria provided, single submitter	tagSNP	rs1555617859
Clinvar_Rec_10251	rs1567948262	Uncertain significance	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	RCV000755736	MedGen;OMIM	C4748003;618050	criteria provided, single submitter	tagSNP	rs1567948262
Clinvar_Rec_10252	rs1057519011	Uncertain significance	Epilepsy;Polyhydramnios;intellectual deficiency	RCV000415304;RCV000415304;RCV000415304	MeSH;MedGen;Orphanet;MedGen	D004827;C0014544;ORPHA166463;Human Phenotype Ontology;C0020224;MedGen	no assertion criteria provided	tagSNP	rs1057519011
Clinvar_Rec_10253	rs117079025	Benign/Likely benign	Renal dysplasia;not provided	RCV000294737;RCV000960301	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3730044
Clinvar_Rec_10254	rs117079025	Uncertain significance	Renal dysplasia	RCV000349619	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001	criteria provided, single submitter	LD derived	rs3730044
Clinvar_Rec_10255	rs2727278	Benign	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	RCV000396106;RCV000353791;RCV000263831;RCV000300267;RCV000299181	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735	criteria provided, single submitter	tagSNP	rs2727278
Clinvar_Rec_10256	rs112489358	Benign	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	RCV000273435;RCV000333260;RCV000269915;RCV000368947;RCV000387625	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735	criteria provided, single submitter	tagSNP	rs112489358
Clinvar_Rec_10257	rs187323518	Conflicting interpretations of pathogenicity	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Inborn genetic diseases;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified	RCV000300244;RCV000399793;RCV000303708;RCV000624799;RCV000400595;RCV000338802;RCV000713127;RCV000239078	MedGen;Orphanet;MedGen;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MeSH;C0950123;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735;MedGen	criteria provided, conflicting interpretations	LD derived	rs199676994
Clinvar_Rec_10258	rs886053246	Uncertain significance	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia	RCV000370576;RCV000405452;RCV000313753;RCV000362662;RCV000310253	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735	criteria provided, single submitter	tagSNP	rs886053246
Clinvar_Rec_10259	rs72851170	Benign/Likely benign	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified	RCV000259917;RCV000355630;RCV000527083;RCV000331158;RCV000273688;RCV000317447;RCV000118271	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;170500;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72851170
Clinvar_Rec_10260	rs377277110	Conflicting interpretations of pathogenicity	Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided	RCV000270326;RCV000309740;RCV000362158;RCV000271110;RCV000332377;RCV000555752	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239337;MedGen;ORPHA681;MedGen;168300;ORPHA684;MedGen;608390;ORPHA99735;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377277110
Clinvar_Rec_10261	rs755034844	Uncertain significance	Bradyopsia	RCV000785959	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1842073;608415;ORPHA75374	criteria provided, single submitter	tagSNP	rs755034844
Clinvar_Rec_10262	rs137853303	Uncertain significance	Carney complex;Carney complex, type 1;Hereditary cancer-predisposing syndrome	RCV000148738;RCV000013510;RCV001014797	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0406810;ORPHA1359;MedGen;160980;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs137853303
Clinvar_Rec_10263	rs141518491	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001023133;RCV000231751	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141518491
Clinvar_Rec_10264	rs281864790	Pathogenic	Carney complex, type 1;not provided	RCV000013498;RCV000414608	MedGen;OMIM	C2607929;160980;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs281864790
Clinvar_Rec_10265	rs143672551	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567376;RCV000456278;RCV000601259	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143672551
Clinvar_Rec_10266	rs143672551	Conflicting interpretations of pathogenicity	Carney complex, type 1;Hereditary cancer-predisposing syndrome	RCV000226717;RCV001023224	MedGen;OMIM;Orphanet;SNOMED CT	C2607929;160980;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs143672551
Clinvar_Rec_10267	rs1568698487	Pathogenic	Carney complex, type 1	RCV000691594	MedGen;OMIM	C2607929;160980	criteria provided, single submitter	tagSNP	rs1568698487
Clinvar_Rec_10268	rs150244650	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001025617;RCV000226328	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150244650
Clinvar_Rec_10269	rs886053320	Uncertain significance	Acrodysostosis;Carney complex	RCV000330202;RCV000293911	MedGen;Orphanet;SNOMED CT;Orphanet	C0220659;ORPHA950;66758006;MedGen;ORPHA1359	criteria provided, single submitter	tagSNP	rs886053320
Clinvar_Rec_10270	rs587776911	Pathogenic	Enamel-renal syndrome	RCV000029150	MedGen;OMIM;Orphanet;SNOMED CT	C2931783;204690;ORPHA1031;109477002	no assertion criteria provided	tagSNP	rs587776911
Clinvar_Rec_10271	rs886053338	Uncertain significance	Andersen Tawil syndrome;Familial atrial fibrillation;short QT syndrome	RCV000266555;RCV000361193;RCV000306382	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;Orphanet	C1563715;170390;ORPHA37553;422348008;MedGen;ORPHA334;MedGen;ORPHA51083	criteria provided, single submitter	tagSNP	rs886053338
Clinvar_Rec_10272	rs2229989	Benign	Camptomelic dysplasia;not provided;not specified	RCV000020284;RCV000756677;RCV000294198	MedGen;OMIM;Orphanet;SNOMED CT	C1861922;114290;ORPHA140;74928006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229989
Clinvar_Rec_10273	rs2229989	Uncertain significance	Camptomelic dysplasia;not provided	RCV000224991;RCV000278794	MedGen;OMIM;Orphanet;SNOMED CT	C1861922;114290;ORPHA140;74928006;MedGen	criteria provided, single submitter	tagSNP	rs2229989
Clinvar_Rec_10274	rs193921130	Uncertain significance	Malignant tumor of prostate	RCV000149258	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193921130
Clinvar_Rec_10275	rs62621249	Benign/Likely benign	Congenital disorder of glycosylation;not specified	RCV000275253;RCV000081961	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs62621249
Clinvar_Rec_10276	rs776418014	Uncertain significance	Malignant tumor of prostate	RCV000203963	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs776418014
Clinvar_Rec_10277	rs7216233	Benign	Congenital disorder of glycosylation	RCV000310547	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs3764359
Clinvar_Rec_10278	rs7216233	Benign	Congenital disorder of glycosylation;not provided;not specified	RCV000360182;RCV000835503;RCV000081960	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1026128
Clinvar_Rec_10279	rs7216233	Benign	Congenital disorder of glycosylation;not specified	RCV000389631;RCV000081963	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1037256
Clinvar_Rec_10280	rs1060502202	Pathogenic	Primary ciliary dyskinesia	RCV000474701	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1060502202
Clinvar_Rec_10281	rs571799887	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000356335;RCV000861976	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	LD derived	rs149918986
Clinvar_Rec_10282	rs886053387	Uncertain significance	Retinitis pigmentosa-deafness syndrome	RCV000349394	MedGen;OMIM;SNOMED CT	CN033130;500004;57838006	criteria provided, single submitter	tagSNP	rs886053387
Clinvar_Rec_10283	rs368572297	Likely pathogenic	NEPHROTIC SYNDROME, TYPE 17	RCV000721155	MedGen;OMIM	C4748545;618176	criteria provided, single submitter	tagSNP	rs368572297
Clinvar_Rec_10284	rs535476833	Conflicting interpretations of pathogenicity	Amish lethal microcephaly;not specified	RCV000299698;RCV000607404	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742;MedGen	criteria provided, conflicting interpretations	tagSNP	rs535476833
Clinvar_Rec_10285	rs796850773	Likely benign	Amish lethal microcephaly	RCV000369527	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742	criteria provided, single submitter	tagSNP	rs796850773
Clinvar_Rec_10286	rs186871564	Conflicting interpretations of pathogenicity	Familial hemophagocytic lymphohistiocytosis;not provided;not specified	RCV000298155;RCV000941332;RCV000251612	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003;MedGen	criteria provided, conflicting interpretations	LD derived	rs372034111
Clinvar_Rec_10287	rs144655991	Uncertain significance	Epidermolysis bullosa junctionalis with pyloric atresia	RCV000383527	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403	criteria provided, single submitter	tagSNP	rs144655991
Clinvar_Rec_10288	rs144655991	Uncertain significance	Epidermolysis bullosa junctionalis with pyloric atresia	RCV000316849	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403	criteria provided, single submitter	LD derived	rs374003966
Clinvar_Rec_10289	rs144655991	Conflicting interpretations of pathogenicity	Epidermolysis bullosa junctionalis with pyloric atresia;not provided	RCV000353021;RCV000942506	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403;MedGen	criteria provided, conflicting interpretations	LD derived	rs145591069
Clinvar_Rec_10290	rs121912467	Pathogenic	Epidermolysis bullosa junctionalis with pyloric atresia;not provided	RCV000015863;RCV000359496	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403;MedGen	criteria provided, single submitter	tagSNP	rs121912467
Clinvar_Rec_10291	rs11553545	Likely benign	Palmoplantar keratoderma-esophageal carcinoma syndrome;not provided	RCV000371679;RCV000860951	MedGen;OMIM;Orphanet	C1835664;148500;ORPHA2198;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11553545
Clinvar_Rec_10292	rs150723002	Likely benign	Palmoplantar keratoderma-esophageal carcinoma syndrome	RCV000296523	MedGen;OMIM;Orphanet	C1835664;148500;ORPHA2198	criteria provided, single submitter	tagSNP	rs150723002
Clinvar_Rec_10293	rs150723002	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000270980	MedGen	CN239466	criteria provided, single submitter	LD derived	rs200091367
Clinvar_Rec_10294	rs540711421	Likely benign	Palmoplantar keratoderma-esophageal carcinoma syndrome	RCV000344269	MedGen;OMIM;Orphanet	C1835664;148500;ORPHA2198	criteria provided, single submitter	LD derived	rs146134173
Clinvar_Rec_10295	rs779552203	Uncertain significance	EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1	RCV000704565	MedGen;OMIM	C4722564;226400	criteria provided, single submitter	tagSNP	rs779552203
Clinvar_Rec_10296	rs773046353	Uncertain significance	Primary ciliary dyskinesia	RCV000197554	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs773046353
Clinvar_Rec_10297	rs201250105	Uncertain significance	Primary ciliary dyskinesia	RCV000460321	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs201250105
Clinvar_Rec_10298	rs2304853	Benign	Ciliary dyskinesia, primary, 15;Glycogen storage disease, type II;Primary ciliary dyskinesia;not specified	RCV000612774;RCV000326592;RCV000272230;RCV000150258	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet	C3151137;613808;MedGen;232300;ORPHA365;124462004;237967002;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2304853
Clinvar_Rec_10299	rs2304853	Benign	Ciliary dyskinesia, primary, 15;Glycogen storage disease, type II;Primary ciliary dyskinesia;not provided;not specified	RCV000601172;RCV000322655;RCV000260712;RCV000860218;RCV000150257	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet	C3151137;613808;MedGen;232300;ORPHA365;124462004;237967002;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56407805
Clinvar_Rec_10300	rs2289538	Likely benign	Glycogen storage disease, type II;Primary ciliary dyskinesia	RCV000394315;RCV000302253	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet	C0017921;232300;ORPHA365;124462004;237967002;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs2289538
Clinvar_Rec_10301	rs2289538	Likely benign	Glycogen storage disease, type II;Primary ciliary dyskinesia	RCV000271949;RCV000294842	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet	C0017921;232300;ORPHA365;124462004;237967002;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, single submitter	LD derived	rs144639114
Clinvar_Rec_10302	rs142967546	Uncertain significance	Glycogen storage disease, type II;not provided	RCV000535428;RCV000319725	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142967546
Clinvar_Rec_10303	rs1555600179	Uncertain significance	Glycogen storage disease, type II	RCV000668100	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002	criteria provided, single submitter	tagSNP	rs1555600179
Clinvar_Rec_10304	rs376067362	Uncertain significance	Glycogen storage disease, type II;not provided;not specified	RCV000526491;RCV000726935;RCV000506584	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376067362
Clinvar_Rec_10305	rs578245757	Likely benign	Glycogen storage disease, type II	RCV000543367	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002	criteria provided, single submitter	tagSNP	rs578245757
Clinvar_Rec_10306	rs772988369	Uncertain significance	Pityriasis rubra pilaris;Psoriasis susceptibility 2	RCV000685399;RCV000685399	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0032027;173200;ORPHA2897;3755001;MedGen;602723	criteria provided, single submitter	tagSNP	rs772988369
Clinvar_Rec_10307	rs150424747	Likely benign	Pityriasis rubra pilaris;Psoriasis susceptibility 2	RCV000632905;RCV000632905	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0032027;173200;ORPHA2897;3755001;MedGen;602723	criteria provided, single submitter	tagSNP	rs150424747
Clinvar_Rec_10308	rs149030007	Uncertain significance	Pityriasis rubra pilaris;Psoriasis susceptibility 2	RCV000687400;RCV000687400	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0032027;173200;ORPHA2897;3755001;MedGen;602723	criteria provided, single submitter	tagSNP	rs149030007
Clinvar_Rec_10309	rs146332779	Uncertain significance	Pityriasis rubra pilaris;Psoriasis susceptibility 2	RCV000697838;RCV000697838	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0032027;173200;ORPHA2897;3755001;MedGen;602723	criteria provided, single submitter	tagSNP	rs146332779
Clinvar_Rec_10310	rs548495951	Uncertain significance	Pityriasis rubra pilaris;Psoriasis susceptibility 2	RCV000632892;RCV000632892	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0032027;173200;ORPHA2897;3755001;MedGen;602723	criteria provided, single submitter	tagSNP	rs548495951
Clinvar_Rec_10311	rs566654466	Uncertain significance	Sanfilippo syndrome	RCV000287343	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs566654466
Clinvar_Rec_10312	rs886053560	Uncertain significance	Sanfilippo syndrome	RCV000296141	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	tagSNP	rs886053560
Clinvar_Rec_10313	rs142557761	Conflicting interpretations of pathogenicity	Sanfilippo syndrome;not provided	RCV000299656;RCV000959194	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142557761
Clinvar_Rec_10314	rs797045186	Uncertain significance	Moyamoya disease 2	RCV000191940	MedGen;OMIM	C1846689;607151	no assertion criteria provided	tagSNP	rs797045186
Clinvar_Rec_10315	rs184519759	Benign/Likely benign	Retinitis pigmentosa 30;not provided;not specified	RCV000625405;RCV000891001;RCV000153277	MedGen;OMIM	C1842816;607921;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs184519759
Clinvar_Rec_10316	rs1126835	Likely benign	Retinitis Pigmentosa, Recessive	RCV000331048	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs1126835
Clinvar_Rec_10317	rs572246270	Uncertain significance	Epileptic encephalopathy	RCV000531287	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs146811868
Clinvar_Rec_10318	rs539637881	Uncertain significance	Cutis laxa, recessive	RCV000350847	MedGen	C2931134	criteria provided, single submitter	tagSNP	rs539637881
Clinvar_Rec_10319	rs537624596	Uncertain significance	Epileptic encephalopathy	RCV000531287	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs146811868
Clinvar_Rec_10320	rs1379395211	Likely pathogenic	Distal shortening of limbs;NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES	RCV000577916;RCV000850258	Human Phenotype Ontology;MedGen;OMIM	HP;C1840307;MedGen;618577	criteria provided, multiple submitters, no conflicts	tagSNP	rs1379395211
Clinvar_Rec_10321	rs1568018920	Pathogenic, association	Abnormality of brain morphology;Intellectual disability;NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES	RCV000709613;RCV000709613;RCV000850259	Human Phenotype Ontology;MedGen;MedGen;OMIM	HP;C4021085;Human Phenotype Ontology;C1843367;MedGen;618577	no assertion criteria provided	tagSNP	rs1568018920
Clinvar_Rec_10322	rs1206712630	Uncertain significance	Epileptic encephalopathy	RCV000702773	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1206712630
Clinvar_Rec_10323	rs1555669844	Uncertain significance	Epileptic encephalopathy	RCV000529483	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1555669844
Clinvar_Rec_10324	rs545386614	Uncertain significance	Epileptic encephalopathy	RCV000531287	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs146811868
Clinvar_Rec_10325	rs786205510	Pathogenic/Likely pathogenic	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES;not provided	RCV000627096;RCV000171267	MedGen;OMIM	C4693816;617977;MedGen	no assertion criteria provided	tagSNP	rs786205510
Clinvar_Rec_10326	rs886053742	Uncertain significance	Majeed syndrome	RCV000259245	MedGen;OMIM;Orphanet	C1864997;609628;ORPHA77297	criteria provided, single submitter	tagSNP	rs886053742
Clinvar_Rec_10327	rs59566682	Likely benign	Majeed syndrome	RCV000368538	MedGen;OMIM;Orphanet	C1864997;609628;ORPHA77297	criteria provided, single submitter	tagSNP	rs59566682
Clinvar_Rec_10328	rs187493560	Likely benign	Majeed syndrome;not specified	RCV001002521;RCV000236437	MedGen;OMIM;Orphanet	C1864997;609628;ORPHA77297;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs199713353
Clinvar_Rec_10329	rs1252354401	Likely benign	Hypertrophic cardiomyopathy	RCV000629099	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1252354401
Clinvar_Rec_10330	rs570482801	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy	RCV000208524	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	LD derived	rs183881662
Clinvar_Rec_10331	rs724159993	Pathogenic	Gordon's syndrome	RCV000125477	MedGen;OMIM;Orphanet;SNOMED CT	C0220666;114300;ORPHA376;237850008	no assertion criteria provided	tagSNP	rs724159993
Clinvar_Rec_10332	rs149395405	Likely benign	Congenital contracture;not provided	RCV000678482;RCV000917609	Human Phenotype Ontology;MedGen	HP;C0332878;MedGen	criteria provided, single submitter	tagSNP	rs149395405
Clinvar_Rec_10333	rs886053612	Uncertain significance	Spinocerebellar Ataxia, Dominant	RCV000403145	MedGen;Orphanet	CN227858;ORPHA99	criteria provided, single submitter	tagSNP	rs886053612
Clinvar_Rec_10334	rs570920789	Uncertain significance	Glucocorticoid Deficiency	RCV000356230	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs570920789
Clinvar_Rec_10335	rs886053622	Uncertain significance	Glucocorticoid Deficiency	RCV000334062	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053622
Clinvar_Rec_10336	rs797017143	Uncertain significance	Glucocorticoid Deficiency	RCV000331296	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs797017143
Clinvar_Rec_10337	rs886053637	Uncertain significance	Glucocorticoid Deficiency	RCV000272631	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053637
Clinvar_Rec_10338	rs886053638	Uncertain significance	Glucocorticoid Deficiency	RCV000325368	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053638
Clinvar_Rec_10339	rs10582120	Uncertain significance	Glucocorticoid Deficiency	RCV000342823	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs10582120
Clinvar_Rec_10340	rs4996467	Uncertain significance	Glucocorticoid Deficiency	RCV000376424	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs4996467
Clinvar_Rec_10341	rs886053641	Uncertain significance	Glucocorticoid Deficiency	RCV000284638	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053641
Clinvar_Rec_10342	rs886053642	Uncertain significance	Glucocorticoid Deficiency	RCV000337363	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053642
Clinvar_Rec_10343	rs886053648	Uncertain significance	Glucocorticoid Deficiency	RCV000279183	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053648
Clinvar_Rec_10344	rs749097541	Uncertain significance	Glucocorticoid Deficiency	RCV000320074	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs749097541
Clinvar_Rec_10345	rs886053649	Uncertain significance	Glucocorticoid Deficiency	RCV000374773	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs886053649
Clinvar_Rec_10346	rs104894657	Pathogenic	ACTH resistance	RCV000003417	MedGen;OMIM	C4049650;202200	no assertion criteria provided	tagSNP	rs104894657
Clinvar_Rec_10347	rs1555737473	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz	RCV000671891	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, single submitter	tagSNP	rs1555737473
Clinvar_Rec_10348	rs1335695492	Uncertain significance	Cardiomyopathy	RCV000773866	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1335695492
Clinvar_Rec_10349	rs1555627137	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 10	RCV000557226	MedGen;OMIM	C1857777;610193	criteria provided, single submitter	tagSNP	rs1555627137
Clinvar_Rec_10350	rs143948820	Benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000770563;RCV000618035;RCV000590565;RCV000036372	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143948820
Clinvar_Rec_10351	rs144534810	Benign/Likely benign	Bainbridge-Ropers syndrome;not provided;not specified	RCV000990087;RCV000949021;RCV000203181	MedGen;OMIM;Orphanet	C3809650;615485;ORPHA352577;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144534810
Clinvar_Rec_10352	rs781240598	Uncertain significance	Left ventricular noncompaction cardiomyopathy	RCV000372069	Human Phenotype Ontology;MedGen	HP;C4021133	criteria provided, single submitter	tagSNP	rs781240598
Clinvar_Rec_10353	rs1568991852	Likely pathogenic	Skin creases, congenital symmetric circumferential, 2	RCV000781519	MedGen;OMIM	C4225225;616734	criteria provided, single submitter	tagSNP	rs1568991852
Clinvar_Rec_10354	rs672601342	Pathogenic	Mental retardation, autosomal dominant 29	RCV000144901	MedGen;OMIM	C4015141;616078	no assertion criteria provided	tagSNP	rs672601342
Clinvar_Rec_10355	rs267607038	Pathogenic	Schinzel-Giedion syndrome;not provided	RCV001007402;RCV000509340	MedGen;OMIM;Orphanet;SNOMED CT	C0265227;269150;ORPHA798;18899000;MedGen	no assertion criteria provided	tagSNP	rs267607038
Clinvar_Rec_10356	rs267607038	Conflicting interpretations of pathogenicity	Arthrogryposis multiplex congenita;Fetal akinesia sequence;Mental retardation, autosomal dominant 29;Schinzel-Giedion syndrome;not provided	RCV000855501;RCV000855501;RCV001007919;RCV000001086;RCV000255245	Human Phenotype Ontology;MeSH;MedGen;Orphanet;MedGen;OMIM;OMIM;Orphanet;SNOMED CT	HP;D001176;C0003886;ORPHA1037;Human Phenotype Ontology;C3151520;MedGen;616078;MedGen;269150;ORPHA798;18899000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs267607038
Clinvar_Rec_10357	rs117498128	Likely benign	Schinzel-Giedion syndrome	RCV000147467	MedGen;OMIM;Orphanet;SNOMED CT	C0265227;269150;ORPHA798;18899000	criteria provided, multiple submitters, no conflicts	tagSNP	rs117498128
Clinvar_Rec_10358	rs117498128	Likely benign	Schinzel-Giedion syndrome	RCV000404957	MedGen;OMIM;Orphanet;SNOMED CT	C0265227;269150;ORPHA798;18899000	criteria provided, single submitter	LD derived	rs1349385
Clinvar_Rec_10359	rs117464906	Likely benign	Schinzel-Giedion syndrome	RCV000395105	MedGen;OMIM;Orphanet;SNOMED CT	C0265227;269150;ORPHA798;18899000	criteria provided, single submitter	tagSNP	rs117464906
Clinvar_Rec_10360	rs759625169	no interpretation for the single variant	Vici syndrome	RCV000496981	MedGen;OMIM;Orphanet	C1855772;242840;ORPHA1493	no interpretation for the single variant	tagSNP	rs759625169
Clinvar_Rec_10361	rs961865375	Pathogenic/Likely pathogenic	Deafness, autosomal recessive 77;Rare genetic deafness;not provided	RCV000669718;RCV000825566;RCV000800277	MedGen;OMIM;Orphanet	C2746083;613079;MedGen;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs961865375
Clinvar_Rec_10362	rs368216643	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000318078	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs368216643
Clinvar_Rec_10363	rs370149278	Uncertain significance	Nonsyndromic Hearing Loss, Recessive;not specified	RCV000391936;RCV000150974	MedGen	CN239439;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370149278
Clinvar_Rec_10364	rs868583953	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000354225	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs868583953
Clinvar_Rec_10365	rs113444922	Uncertain significance	Variant of unknown significance	RCV000023982	-	-	no assertion criteria provided	tagSNP	rs113444922
Clinvar_Rec_10366	rs143142227	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000385343;RCV000900853;RCV000150986	MedGen	CN239439;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143142227
Clinvar_Rec_10367	rs140347847	Uncertain significance	Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia	RCV000406341;RCV000350522	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	C0265286;223800;ORPHA239;82699004;MedGen;ORPHA178355	criteria provided, single submitter	LD derived	rs374894787
Clinvar_Rec_10368	rs140347847	Uncertain significance	Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia	RCV000321604;RCV000376302	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	C0265286;223800;ORPHA239;82699004;MedGen;ORPHA178355	criteria provided, single submitter	LD derived	rs369624199
Clinvar_Rec_10369	rs3208550	Uncertain significance	Diarrhea with Microvillus Atrophy	RCV000359443	MedGen	CN239249	criteria provided, single submitter	tagSNP	rs3208550
Clinvar_Rec_10370	rs377767330	Pathogenic	Juvenile polyposis syndrome	RCV000021686	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0345893;174900;ORPHA2929;ORPHA329971;9273005	no assertion criteria provided	tagSNP	rs377767330
Clinvar_Rec_10371	rs1568205026	Uncertain significance	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	RCV000776746;RCV001050665	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1568205026
Clinvar_Rec_10372	rs145805120	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000566093;RCV000587852;RCV000437773	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145805120
Clinvar_Rec_10373	rs751985298	Uncertain significance	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome	RCV000164798;RCV000196374	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005	criteria provided, multiple submitters, no conflicts	tagSNP	rs751985298
Clinvar_Rec_10374	rs773367516	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566945	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs773367516
Clinvar_Rec_10375	rs199526820	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Juvenile polyposis syndrome;not provided;not specified	RCV000162721;RCV000123261;RCV000858658;RCV000439984	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199526820
Clinvar_Rec_10376	rs886053936	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis;Myhre syndrome	RCV000285795;RCV000340717;RCV000397546	MedGen;OMIM;OMIM;Orphanet	C4551861;187300;MedGen;139210;ORPHA2588	criteria provided, single submitter	tagSNP	rs886053936
Clinvar_Rec_10377	rs562588951	Likely benign	Pitt-Hopkins syndrome;not specified	RCV000362327;RCV000435766	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200800656
Clinvar_Rec_10378	rs1568329461	Uncertain significance	Pitt-Hopkins syndrome	RCV000678972	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, single submitter	tagSNP	rs1568329461
Clinvar_Rec_10379	rs1568329915	Uncertain significance	History of neurodevelopmental disorder	RCV000720092	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1568329915
Clinvar_Rec_10380	rs202025804	Uncertain significance	Pitt-Hopkins syndrome	RCV000405270	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, single submitter	tagSNP	rs202025804
Clinvar_Rec_10381	rs796053418	Pathogenic	Pitt-Hopkins syndrome;not provided	RCV000645474;RCV000189722	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053418
Clinvar_Rec_10382	rs1555764839	Likely pathogenic	Pitt-Hopkins syndrome	RCV000660296	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	criteria provided, single submitter	tagSNP	rs1555764839
Clinvar_Rec_10383	rs121909122	Pathogenic	Pitt-Hopkins syndrome;not provided	RCV000007797;RCV000255339	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121909122
Clinvar_Rec_10384	rs797045003	Pathogenic	Pitt-Hopkins syndrome	RCV000190500	MedGen;OMIM;Orphanet	C1970431;610954;ORPHA2896	no assertion criteria provided	tagSNP	rs797045003
Clinvar_Rec_10385	rs147445499	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719976;RCV000422948;RCV000147729	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147445499
Clinvar_Rec_10386	rs368270265	Benign/Likely benign	History of neurodevelopmental disorder;Pitt-Hopkins syndrome;not provided;not specified	RCV000720261;RCV000358759;RCV000858270;RCV000128381	MedGen;OMIM;Orphanet	C2711754;MedGen;610954;ORPHA2896;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368270265
Clinvar_Rec_10387	rs1555778204	Pathogenic	Inborn genetic diseases	RCV000623010	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555778204
Clinvar_Rec_10388	rs765024850	Uncertain significance	Anophthalmia - microphthalmia	RCV000267034	MedGen	CN235161	criteria provided, single submitter	tagSNP	rs765024850
Clinvar_Rec_10389	rs2298711	Benign/Likely benign	Combined deficiency of factor V and factor VIII, 1;not specified	RCV000366036;RCV000251037	MedGen;OMIM	C4551981;227300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2298711
Clinvar_Rec_10390	rs1127220	Benign/Likely benign	Combined deficiency of factor V and factor VIII, 1;not specified	RCV000278265;RCV000251338	MedGen;OMIM	C4551981;227300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1127220
Clinvar_Rec_10391	rs35448271	Benign	Hennekam lymphangiectasia-lymphedema syndrome 1	RCV000399859	MedGen;OMIM	C4012050;235510	criteria provided, single submitter	tagSNP	rs35448271
Clinvar_Rec_10392	rs35448271	Uncertain significance	Hennekam lymphangiectasia-lymphedema syndrome 1	RCV000292835	MedGen;OMIM	C4012050;235510	criteria provided, single submitter	tagSNP	rs35448271
Clinvar_Rec_10393	rs52804924	Pathogenic	Obesity	RCV000030160	Human Phenotype Ontology;MeSH;MedGen;OMIM;SNOMED CT	HP;D009765;C0028754;601665;414916001	criteria provided, single submitter	tagSNP	rs52804924
Clinvar_Rec_10394	rs770293321	Pathogenic	Obesity	RCV000582390	Human Phenotype Ontology;MeSH;MedGen;OMIM;SNOMED CT	HP;D009765;C0028754;601665;414916001	no assertion criteria provided	tagSNP	rs770293321
Clinvar_Rec_10395	rs1568306204	Uncertain significance	Cyclical neutropenia;Neutropenia, severe congenital 1, autosomal dominant	RCV000688031;RCV000688031	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0221023;162800;ORPHA2686;191347008;MedGen;202700	criteria provided, single submitter	tagSNP	rs1568306204
Clinvar_Rec_10396	rs574873180	Uncertain significance	Peutz-Jeghers syndrome	RCV000375931	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	LD derived	rs561818770
Clinvar_Rec_10397	rs786201234	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000163147;RCV000632813	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, conflicting interpretations	tagSNP	rs786201234
Clinvar_Rec_10398	rs1555734904	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000568657	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555734904
Clinvar_Rec_10399	rs1466484547	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574061	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1466484547
Clinvar_Rec_10400	rs778468876	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000563651;RCV000869543;RCV000419797	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs778468876
Clinvar_Rec_10401	rs775258601	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575383;RCV000879397	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775258601
Clinvar_Rec_10402	rs775258601	Likely benign	Hereditary cancer-predisposing syndrome	RCV000583483	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs775258601
Clinvar_Rec_10403	rs79175212	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000160981;RCV000123069;RCV000759363;RCV000213009	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79175212
Clinvar_Rec_10404	rs786201334	Likely benign	Hereditary cancer-predisposing syndrome	RCV000163398	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201334
Clinvar_Rec_10405	rs587781643	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129772	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587781643
Clinvar_Rec_10406	rs771632414	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000163989;RCV000553557;RCV000766875;RCV000217261	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771632414
Clinvar_Rec_10407	rs1555739204	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564037	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555739204
Clinvar_Rec_10408	rs1568712119	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000777149	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1568712119
Clinvar_Rec_10409	rs1060499960	Pathogenic	Peutz-Jeghers syndrome	RCV000464957	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1060499960
Clinvar_Rec_10410	rs786201811	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000164292;RCV001071149	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201811
Clinvar_Rec_10411	rs876658594	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000217573;RCV000460876	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658594
Clinvar_Rec_10412	rs371264852	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;Retinoblastoma;not provided	RCV000130707;RCV000199024;RCV000761149;RCV000486850	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;Human Phenotype Ontology;D012175;C0035335;180200;ORPHA790;MedGen	criteria provided, conflicting interpretations	tagSNP	rs371264852
Clinvar_Rec_10413	rs1057521267	Conflicting interpretations of pathogenicity	Peutz-Jeghers syndrome;not specified	RCV000792638;RCV000420777	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057521267
Clinvar_Rec_10414	rs1555739249	Likely benign	Hereditary cancer-predisposing syndrome	RCV000561333	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555739249
Clinvar_Rec_10415	rs587782302	Uncertain significance	Carcinoma of pancreas;Hereditary cancer-predisposing syndrome;Malignant tumor of testis;Peutz-Jeghers syndrome;Peutz-Jeghers syndrome;not provided	RCV000765433;RCV000131186;RCV000765433;RCV000168376;RCV000765433;RCV000222337	MeSH;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C562463;C0235974;260350;ORPHA217074;372142002;MedGen;ORPHA140162;699346009;MedGen;273300;363449006;MeSH;C0031269;175200;ORPHA2869;54411001;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782302
Clinvar_Rec_10416	rs1568712203	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000773690	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1568712203
Clinvar_Rec_10417	rs773049570	Likely benign	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not specified	RCV000215793;RCV000632859;RCV000423882	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773049570
Clinvar_Rec_10418	rs876658160	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213831	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658160
Clinvar_Rec_10419	rs1195673013	Uncertain significance	Peutz-Jeghers syndrome	RCV000632842	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1195673013
Clinvar_Rec_10420	rs368547224	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not provided;not specified	RCV000129286;RCV000197027;RCV000656982;RCV000213030	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368547224
Clinvar_Rec_10421	rs864622118	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000570906;RCV000204257	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622118
Clinvar_Rec_10422	rs1060499969	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome	RCV000579444;RCV000472798	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060499969
Clinvar_Rec_10423	rs375431906	Uncertain significance	Hereditary cancer-predisposing syndrome;Peutz-Jeghers syndrome;not specified	RCV000130584;RCV000206247;RCV000482308	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MeSH;C0031269;175200;ORPHA2869;54411001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375431906
Clinvar_Rec_10424	rs1555739339	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584253	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555739339
Clinvar_Rec_10425	rs1373424237	Likely benign	Hereditary cancer-predisposing syndrome	RCV000584482	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1373424237
Clinvar_Rec_10426	rs1568716651	Uncertain significance	Peutz-Jeghers syndrome	RCV000690294	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D010580;C0031269;175200;ORPHA2869;54411001	criteria provided, single submitter	tagSNP	rs1568716651
Clinvar_Rec_10427	rs200980086	Benign/Likely benign	Deficiency of guanidinoacetate methyltransferase;not specified	RCV000356370;RCV000125196	MedGen;OMIM;Orphanet;SNOMED CT	C0574080;612736;ORPHA382;124239003;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149268921
Clinvar_Rec_10428	rs139146360	Likely benign	Cone-Rod Dystrophy, Dominant;Macular degeneration	RCV000266824;RCV000354490	MedGen;MedGen;SNOMED CT	CN239348;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs139146360
Clinvar_Rec_10429	rs751398427	Uncertain significance	Cerebellar ataxia, Cayman type	RCV000297938	MedGen;OMIM;Orphanet	C1832585;601238;ORPHA94122	criteria provided, single submitter	tagSNP	rs751398427
Clinvar_Rec_10430	rs201886868	Uncertain significance	Long QT syndrome	RCV000190172	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	no assertion criteria provided	tagSNP	rs201886868
Clinvar_Rec_10431	rs1568409639	Uncertain significance	Leukodystrophy, hypomyelinating, 6	RCV000701647	MedGen;OMIM;Orphanet	C2676244;612438;ORPHA139441	criteria provided, single submitter	tagSNP	rs1568409639
Clinvar_Rec_10432	rs144672500	Uncertain significance	Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration	RCV000270342;RCV000362131;RCV000323045	MedGen;Orphanet;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;ORPHA280133;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs144672500
Clinvar_Rec_10433	rs34029609	Benign/Likely benign	Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration;not provided	RCV000361389;RCV000264315;RCV000321805;RCV000885899	MedGen;Orphanet;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;ORPHA280133;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34029609
Clinvar_Rec_10434	rs2230208	Benign	Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration	RCV000302492;RCV000390479;RCV000359714	MedGen;Orphanet;Orphanet;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;ORPHA280133;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	tagSNP	rs2230208
Clinvar_Rec_10435	rs1057516458	Likely pathogenic	Mucolipidosis type IV	RCV000409544	MedGen;OMIM;Orphanet;SNOMED CT	C0238286;252650;ORPHA578;111384001	criteria provided, single submitter	tagSNP	rs1057516458
Clinvar_Rec_10436	rs1057516458	Likely pathogenic	Mucolipidosis type IV	RCV000412404	MedGen;OMIM;Orphanet;SNOMED CT	C0238286;252650;ORPHA578;111384001	criteria provided, single submitter	tagSNP	rs1057516458
Clinvar_Rec_10437	rs1555742787	Uncertain significance	Mucolipidosis type IV	RCV000668136	MedGen;OMIM;Orphanet;SNOMED CT	C0238286;252650;ORPHA578;111384001	criteria provided, single submitter	tagSNP	rs1555742787
Clinvar_Rec_10438	rs571796329	Uncertain significance	Spastic Paraplegia, Recessive	RCV000363664	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs571796329
Clinvar_Rec_10439	rs786203997	Pathogenic	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	RCV000167573	MedGen;OMIM	C4225411;606164	criteria provided, single submitter	tagSNP	rs786203997
Clinvar_Rec_10440	rs78421590	Likely benign	Weill-Marchesani syndrome	RCV000313872	MedGen;Orphanet	C0265313;ORPHA3449	criteria provided, single submitter	tagSNP	rs78421590
Clinvar_Rec_10441	rs782449192	Conflicting interpretations of pathogenicity	Weill-Marchesani syndrome;not provided	RCV000284001;RCV000895693	MedGen;Orphanet	C0265313;ORPHA3449;MedGen	criteria provided, conflicting interpretations	tagSNP	rs782449192
Clinvar_Rec_10442	rs142647321	Benign/Likely benign	Dementia, Deafness, and Sensory Neuropathy;not provided;not specified	RCV000400726;RCV000755251;RCV000203118	MedGen	CN239189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142647321
Clinvar_Rec_10443	rs749741623	Likely benign	Hereditary sensory neuropathy type IE	RCV000649382	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs749741623
Clinvar_Rec_10444	rs1405376714	Likely benign	Hereditary sensory neuropathy type IE	RCV000531743	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs1405376714
Clinvar_Rec_10445	rs529074384	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000649356	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs529074384
Clinvar_Rec_10446	rs201945078	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000649357	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs201945078
Clinvar_Rec_10447	rs140768360	Uncertain significance	Hereditary sensory neuropathy type IE;not provided	RCV000807203;RCV000235913	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs554894511
Clinvar_Rec_10448	rs374028807	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV001023409;RCV000233257	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	LD derived	rs534705500
Clinvar_Rec_10449	rs541296010	Conflicting interpretations of pathogenicity	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000285168;RCV000565914;RCV000227886;RCV000194755	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs372620534
Clinvar_Rec_10450	rs546492504	Benign	Familial hypercholesterolemia 1	RCV000508955	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	LD derived	rs145252288
Clinvar_Rec_10451	rs766121627	Benign/Likely benign	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate;not provided;not specified	RCV000401321;RCV000357383;RCV000870162;RCV000439687	MedGen	CN239281;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766121627
Clinvar_Rec_10452	rs147579870	Conflicting interpretations of pathogenicity	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth, Intermediate;not provided	RCV000323377;RCV000268255;RCV000466749	MedGen	CN239281;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147579870
Clinvar_Rec_10453	rs748887276	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate B	RCV000704893	MedGen;OMIM;Orphanet	C1847902;606482;ORPHA100044	criteria provided, single submitter	tagSNP	rs748887276
Clinvar_Rec_10454	rs200475945	Conflicting interpretations of pathogenicity	Centronuclear Myopathy, Dominant;Charcot-Marie-Tooth disease, dominant intermediate B;Charcot-Marie-Tooth, Intermediate	RCV000339722;RCV000800522;RCV000380427	MedGen;OMIM;Orphanet	CN239281;MedGen;606482;ORPHA100044;MedGen	criteria provided, conflicting interpretations	LD derived	rs201604679
Clinvar_Rec_10455	rs1057518858	Uncertain significance	Limb-girdle muscle weakness;Myofibrillar myopathy	RCV000415072;RCV000415072	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C1858127;Human Phenotype Ontology;C2678065;ORPHA593;699269005	criteria provided, single submitter	tagSNP	rs1057518858
Clinvar_Rec_10456	rs876661176	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate B;not provided	RCV000793937;RCV000218023	MedGen;OMIM;Orphanet	C1847902;606482;ORPHA100044;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661176
Clinvar_Rec_10457	rs532279311	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000574590;RCV000468578	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs568650875
Clinvar_Rec_10458	rs200843089	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, dominant intermediate B;not specified	RCV000459423;RCV000439631	MedGen;OMIM;Orphanet	C1847902;606482;ORPHA100044;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200843089
Clinvar_Rec_10459	rs371412466	Conflicting interpretations of pathogenicity	Myopathy, centronuclear;not specified	RCV000145907;RCV000605566	MedGen	CN221282;MedGen	criteria provided, conflicting interpretations	tagSNP	rs371412466
Clinvar_Rec_10460	rs1201812441	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000564688;RCV000646794	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1201812441
Clinvar_Rec_10461	rs1330092211	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV001012490;RCV000533929	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1330092211
Clinvar_Rec_10462	rs1218848193	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000575166;RCV001050386	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1218848193
Clinvar_Rec_10463	rs11537673	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000565434;RCV000531150	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs11537673
Clinvar_Rec_10464	rs11537673	Likely benign	Rhabdoid tumor predisposition syndrome 2	RCV000646919	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs11537673
Clinvar_Rec_10465	rs140000691	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573080;RCV000226951;RCV000193505	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140000691
Clinvar_Rec_10466	rs267607070	Pathogenic	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;not provided	RCV001020623;RCV000006932;RCV000760411	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267607070
Clinvar_Rec_10467	rs147314370	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569540;RCV000464779	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147314370
Clinvar_Rec_10468	rs147314370	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573637;RCV000476654	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142995801
Clinvar_Rec_10469	rs878854217	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575320;RCV000233288	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854217
Clinvar_Rec_10470	rs144803359	Likely benign	Hereditary cancer-predisposing syndrome	RCV000571932	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs144803359
Clinvar_Rec_10471	rs144803359	Conflicting interpretations of pathogenicity	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000383134;RCV000566310;RCV000204080;RCV000193724	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144803359
Clinvar_Rec_10472	rs1555785500	Likely benign	Hereditary cancer-predisposing syndrome	RCV000567209	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555785500
Clinvar_Rec_10473	rs564104794	Conflicting interpretations of pathogenicity	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000285168;RCV000565914;RCV000227886;RCV000194755	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs372620534
Clinvar_Rec_10474	rs201986470	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562996;RCV000924852	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201986470
Clinvar_Rec_10475	rs201986470	Pathogenic	Familial hypercholesterolemia 1	RCV000495936	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	LD derived	rs200793488
Clinvar_Rec_10476	rs1060504460	Likely benign	Rhabdoid tumor predisposition syndrome 2	RCV000473431	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1060504460
Clinvar_Rec_10477	rs1568565786	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000702495	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1568565786
Clinvar_Rec_10478	rs1555797441	Likely benign	Rhabdoid tumor predisposition syndrome 2	RCV000544587	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555797441
Clinvar_Rec_10479	rs139335250	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000568493;RCV000827199	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139335250
Clinvar_Rec_10480	rs139335250	Uncertain significance	Familial hypercholesterolemia 1	RCV000497247	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	LD derived	rs113972139
Clinvar_Rec_10481	rs1555800629	Pathogenic	Familial hypercholesterolemia 1	RCV000508753	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555800629
Clinvar_Rec_10482	rs766903209	Likely benign	Familial hypercholesterolemia 1	RCV000417266	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs766903209
Clinvar_Rec_10483	rs879254456	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237111	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254456
Clinvar_Rec_10484	rs879254456	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237550	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254456
Clinvar_Rec_10485	rs879254456	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000238124	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs879254456
Clinvar_Rec_10486	rs879254575	Pathogenic	Familial hypercholesterolemia 1	RCV000237989	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254575
Clinvar_Rec_10487	rs879254575	Pathogenic	Familial hypercholesterolemia 1	RCV000238339	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254575
Clinvar_Rec_10488	rs1131692195	Pathogenic	Familial hypercholesterolemia 1	RCV000495905	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1131692195
Clinvar_Rec_10489	rs879254615	Pathogenic	Familial hypercholesterolemia 1	RCV000237273	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254615
Clinvar_Rec_10490	rs879254619	Pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000799450;RCV000238466	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254619
Clinvar_Rec_10491	rs387906306	Likely pathogenic	Familial hypercholesterolemia 1	RCV000417271	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs387906306
Clinvar_Rec_10492	rs387906306	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000003931	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906306
Clinvar_Rec_10493	rs387906306	Pathogenic	Familial hypercholesterolemia 1	RCV000238121	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906306
Clinvar_Rec_10494	rs879254624	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237916	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254624
Clinvar_Rec_10495	rs879254622	Pathogenic	Familial hypercholesterolemia 1	RCV000237641	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254622
Clinvar_Rec_10496	rs879254623	Pathogenic	Familial hypercholesterolemia 1	RCV000237761	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254623
Clinvar_Rec_10497	rs1131692197	Pathogenic	Familial hypercholesterolemia 1	RCV000495868	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1131692197
Clinvar_Rec_10498	rs1555803439	Likely pathogenic	Familial hypercholesterolemia 1	RCV000509465	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1555803439
Clinvar_Rec_10499	rs879254625	Pathogenic	Familial hypercholesterolemia 1	RCV000237331	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254625
Clinvar_Rec_10500	rs1131692198	Pathogenic	Familial hypercholesterolemia 1	RCV000495903	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1131692198
Clinvar_Rec_10501	rs1555803449	Pathogenic	Familial hypercholesterolemia 1	RCV000508727	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555803449
Clinvar_Rec_10502	rs1555803414	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237604	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555803414
Clinvar_Rec_10503	rs1555803425	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238131	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555803425
Clinvar_Rec_10504	rs387906303	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000003896	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906303
Clinvar_Rec_10505	rs1555803455	Pathogenic	Familial hypercholesterolemia 1	RCV000509197	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1555803455
Clinvar_Rec_10506	rs879254630	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237619	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254630
Clinvar_Rec_10507	rs879254630	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238189	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254630
Clinvar_Rec_10508	rs879254630	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238521	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254630
Clinvar_Rec_10509	rs879254673	Pathogenic	Familial hypercholesterolemia 1	RCV000238454	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254673
Clinvar_Rec_10510	rs1057519663	Pathogenic	Familial hypercholesterolemia 1	RCV000417302	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1057519663
Clinvar_Rec_10511	rs879254693	Uncertain significance	Familial hypercholesterolemia 1	RCV000237583	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254693
Clinvar_Rec_10512	rs879254693	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238133	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254693
Clinvar_Rec_10513	rs879254693	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237234	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254693
Clinvar_Rec_10514	rs879254704	Pathogenic	Familial hypercholesterolemia 1;Homozygous familial hypercholesterolemia	RCV000237977;RCV000826196	MedGen;OMIM;SNOMED CT;Orphanet	C0745103;143890;397915002;MedGen;ORPHA391665	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254704
Clinvar_Rec_10515	rs1131692202	Pathogenic	Familial hypercholesterolemia 1	RCV000495864	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1131692202
Clinvar_Rec_10516	rs879254705	Pathogenic	Familial hypercholesterolemia 1	RCV000238465	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254705
Clinvar_Rec_10517	rs767618089	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000237850	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs767618089
Clinvar_Rec_10518	rs767618089	Pathogenic	Familial hypercholesterolemia 1	RCV000238395	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs767618089
Clinvar_Rec_10519	rs879254713	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237401	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254713
Clinvar_Rec_10520	rs879254714	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237762	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254714
Clinvar_Rec_10521	rs879254714	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000238358	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254714
Clinvar_Rec_10522	rs1555803891	Pathogenic	Familial hypercholesterolemia 1	RCV000508883	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555803891
Clinvar_Rec_10523	rs879254715	Pathogenic	Familial hypercholesterolemia 1	RCV000495921	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254715
Clinvar_Rec_10524	rs879254715	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000237414	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs879254715
Clinvar_Rec_10525	rs1555803898	Pathogenic	Familial hypercholesterolemia 1	RCV000508698	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs1555803898
Clinvar_Rec_10526	rs570942190	Pathogenic/Likely pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Homozygous familial hypercholesterolemia;not provided	RCV000586690;RCV000211633;RCV000825619;RCV000161982	MedGen;SNOMED CT;OMIM;SNOMED CT;Orphanet	C0020445;398036000;MedGen;143890;397915002;MedGen;ORPHA391665;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs570942190
Clinvar_Rec_10527	rs745343524	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000238242	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs745343524
Clinvar_Rec_10528	rs745343524	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000237295	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs745343524
Clinvar_Rec_10529	rs745343524	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV001044362;RCV000237891	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs745343524
Clinvar_Rec_10530	rs879254902	Pathogenic	Familial hypercholesterolemia 1	RCV000238248	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254902
Clinvar_Rec_10531	rs879254904	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237957	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254904
Clinvar_Rec_10532	rs879254905	Likely pathogenic	Familial hypercholesterolemia 1;not provided	RCV000238517;RCV000480044	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254905
Clinvar_Rec_10533	rs1555805930	Pathogenic	Familial hypercholesterolemia 1	RCV000509166	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs1555805930
Clinvar_Rec_10534	rs879254949	Pathogenic	Familial hypercholesterolemia 1	RCV000238531	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254949
Clinvar_Rec_10535	rs879254950	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237594	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254950
Clinvar_Rec_10536	rs879254953	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238102	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254953
Clinvar_Rec_10537	rs746939188	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia 1	RCV000237191	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs746939188
Clinvar_Rec_10538	rs879254952	Pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000775073;RCV000237743	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254952
Clinvar_Rec_10539	rs879254955	Pathogenic	Familial hypercholesterolemia 1	RCV000508851	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs879254955
Clinvar_Rec_10540	rs879254955	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237710	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254955
Clinvar_Rec_10541	rs879254956	Likely pathogenic	Familial hypercholesterolemia 1	RCV000238257	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254956
Clinvar_Rec_10542	rs879254957	Pathogenic	Familial hypercholesterolemia 1	RCV000237119	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254957
Clinvar_Rec_10543	rs768509914	Benign	Familial hypercholesterolemia 1	RCV000508747	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs768509914
Clinvar_Rec_10544	rs879255104	Pathogenic	Familial hypercholesterolemia 1	RCV000238208	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255104
Clinvar_Rec_10545	rs879255105	Pathogenic	Familial hypercholesterolemia 1	RCV000237284	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255105
Clinvar_Rec_10546	rs879255105	Uncertain significance	Familial hypercholesterolemia 1	RCV000237760	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255105
Clinvar_Rec_10547	rs879255170	Likely benign	Familial hypercholesterolemia 1	RCV000237887	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255170
Clinvar_Rec_10548	rs745429866	Uncertain significance	Familial hypercholesterolemia	RCV000775619	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs745429866
Clinvar_Rec_10549	rs879255211	Pathogenic	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000816738;RCV000237271	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255211
Clinvar_Rec_10550	rs879255212	Pathogenic	Familial hypercholesterolemia 1	RCV000237621	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879255212
Clinvar_Rec_10551	rs879255213	Pathogenic	Familial hypercholesterolemia 1	RCV000508875	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	no assertion criteria provided	tagSNP	rs879255213
Clinvar_Rec_10552	rs879255213	Pathogenic	Familial hypercholesterolemia 1	RCV000237706	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255213
Clinvar_Rec_10553	rs886054188	Uncertain significance	Familial hypercholesterolemia 1	RCV000332166	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054188
Clinvar_Rec_10554	rs886054189	Uncertain significance	Familial hypercholesterolemia 1	RCV000389052	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054189
Clinvar_Rec_10555	rs541839949	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000569119;RCV000228288	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs559282159
Clinvar_Rec_10556	rs200809206	Uncertain significance	Hereditary cancer-predisposing syndrome;Inborn genetic diseases	RCV001014454;RCV000623883	MedGen;Orphanet;SNOMED CT;MedGen	C0027672;ORPHA140162;699346009;MeSH;C0950123	criteria provided, single submitter	LD derived	rs550731833
Clinvar_Rec_10557	rs879255610	Pathogenic	Adams-Oliver syndrome 2	RCV000239532	MedGen;OMIM	C3280182;614219	no assertion criteria provided	tagSNP	rs879255610
Clinvar_Rec_10558	rs121918116	Pathogenic, Affects	Primary familial polycythemia due to EPO receptor mutation	RCV000018065	MedGen;OMIM;Orphanet	C1851490;133100;ORPHA90042	no assertion criteria provided	tagSNP	rs121918116
Clinvar_Rec_10559	rs121917830	Pathogenic	Primary familial polycythemia due to EPO receptor mutation	RCV000258849	MedGen;OMIM;Orphanet	C1851490;133100;ORPHA90042	no assertion criteria provided	tagSNP	rs121917830
Clinvar_Rec_10560	rs762033637	Uncertain significance	Ciliary dyskinesia, primary, 30;not specified	RCV000228329;RCV000221623	MedGen;OMIM	C4015016;616037;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762033637
Clinvar_Rec_10561	rs1060501319	Uncertain significance	Ciliary dyskinesia, primary, 30	RCV000471790	MedGen;OMIM	C4015016;616037	criteria provided, single submitter	tagSNP	rs1060501319
Clinvar_Rec_10562	rs160913	Likely benign	Polycystic liver disease 1	RCV000317181	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	LD derived	rs115820640
Clinvar_Rec_10563	rs373431632	Uncertain significance	Polycystic liver disease 1	RCV000304865	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	tagSNP	rs373431632
Clinvar_Rec_10564	rs886054198	Uncertain significance	Polycystic liver disease 1	RCV000355117	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	tagSNP	rs886054198
Clinvar_Rec_10565	rs1555705992	Likely pathogenic	Deficiency of alpha-mannosidase	RCV000666750	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1555705992
Clinvar_Rec_10566	rs148080695	Uncertain significance	Deficiency of alpha-mannosidase	RCV000631884	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs148080695
Clinvar_Rec_10567	rs142797984	Uncertain significance	Deficiency of alpha-mannosidase	RCV000282265	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs142797984
Clinvar_Rec_10568	rs750173812	Uncertain significance	Deficiency of alpha-mannosidase	RCV000670138	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs750173812
Clinvar_Rec_10569	rs1555708156	Likely pathogenic	Deficiency of alpha-mannosidase	RCV000674115	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555708156
Clinvar_Rec_10570	rs1057517408	Likely pathogenic	Deficiency of alpha-mannosidase	RCV000411548	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1057517408
Clinvar_Rec_10571	rs750997069	Uncertain significance	Deficiency of alpha-mannosidase	RCV000282921	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs750997069
Clinvar_Rec_10572	rs1057516325	Likely pathogenic	Deficiency of alpha-mannosidase	RCV000410290	MedGen;OMIM;Orphanet;SNOMED CT	C0024748;248500;ORPHA61;124466001	criteria provided, single submitter	tagSNP	rs1057516325
Clinvar_Rec_10573	rs531279487	Likely benign	Congenital dyserythropoietic anemia	RCV000312901	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs531279487
Clinvar_Rec_10574	rs16978757	Benign	Congenital dyserythropoietic anemia	RCV000367515	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs16978757
Clinvar_Rec_10575	rs112631212	Likely benign	Congenital dyserythropoietic anemia	RCV000391626	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs112631212
Clinvar_Rec_10576	rs898043081	Pathogenic/Likely pathogenic	Glutaric aciduria, type 1;not provided	RCV000410967;RCV000760423	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268595;231670;ORPHA25;360416003;76175005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs898043081
Clinvar_Rec_10577	rs142967670	Pathogenic	Glutaric aciduria, type 1	RCV000634887	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268595;231670;ORPHA25;360416003;76175005	criteria provided, single submitter	tagSNP	rs142967670
Clinvar_Rec_10578	rs142967670	Pathogenic	Glutaric aciduria, type 1;not provided	RCV000169574;RCV000255875	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268595;231670;ORPHA25;360416003;76175005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142967670
Clinvar_Rec_10579	rs1555749893	Uncertain significance	Glutaric aciduria, type 1	RCV000667552	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268595;231670;ORPHA25;360416003;76175005	criteria provided, single submitter	tagSNP	rs1555749893
Clinvar_Rec_10580	rs1555751109	Likely pathogenic	Glutaric aciduria, type 1	RCV000672676	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0268595;231670;ORPHA25;360416003;76175005	criteria provided, single submitter	tagSNP	rs1555751109
Clinvar_Rec_10581	rs1215112413	Uncertain significance	Marshall-Smith syndrome;Sotos syndrome 2	RCV000685480;RCV000685480	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0265211;602535;ORPHA561;73284007;MedGen;614753;ORPHA420179	criteria provided, single submitter	tagSNP	rs1215112413
Clinvar_Rec_10582	rs2304094	Likely benign	History of neurodevelopmental disorder	RCV000716217	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs2304094
Clinvar_Rec_10583	rs763045560	Uncertain significance	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;History of neurodevelopmental disorder;not provided	RCV000545131;RCV000545131;RCV000719672;RCV000486833	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4310716;617106;MedGen;108500;ORPHA97;420932006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763045560
Clinvar_Rec_10584	rs757291476	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000719382;RCV000724441;RCV000177934	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs757291476
Clinvar_Rec_10585	rs368257155	Uncertain significance	History of neurodevelopmental disorder;not provided;not specified	RCV000720347;RCV000996784;RCV000413582	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368257155
Clinvar_Rec_10586	rs1085307864	Uncertain significance	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not provided	RCV000686604;RCV000686604;RCV000489038	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4310716;617106;MedGen;108500;ORPHA97;420932006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1085307864
Clinvar_Rec_10587	rs1555755909	Pathogenic	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not provided	RCV000526339;RCV000526339;RCV000757052	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4310716;617106;MedGen;108500;ORPHA97;420932006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555755909
Clinvar_Rec_10588	rs121908242	Conflicting interpretations of pathogenicity	Episodic ataxia type 2;not provided;not specified	RCV000059295;RCV000513873;RCV000152897	MedGen;OMIM;Orphanet;SNOMED CT	C1720416;108500;ORPHA97;420932006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121908242
Clinvar_Rec_10589	rs1464680327	Uncertain significance	Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2	RCV000695172;RCV000695172	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4310716;617106;MedGen;108500;ORPHA97;420932006	criteria provided, single submitter	tagSNP	rs1464680327
Clinvar_Rec_10590	rs1555757432	Likely pathogenic	Epileptic encephalopathy, early infantile, 42	RCV000578415	MedGen;OMIM	C4310716;617106	criteria provided, single submitter	tagSNP	rs1555757432
Clinvar_Rec_10591	rs73925404	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717645;RCV000957922;RCV000502449	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs73925404
Clinvar_Rec_10592	rs73925404	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000717654;RCV000428246	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs73922801
Clinvar_Rec_10593	rs73925404	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000717666;RCV000419467;RCV000501181	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs56359259
Clinvar_Rec_10594	rs869025230	Uncertain significance	Ductal breast carcinoma	RCV000207300	MedGen	C1527349	no assertion criteria provided	tagSNP	rs869025230
Clinvar_Rec_10595	rs199638166	Uncertain significance	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1;not provided;not specified	RCV000999639;RCV000487935;RCV000499633	MedGen;OMIM	C4551768;125310;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199638166
Clinvar_Rec_10596	rs777751303	Pathogenic/Likely pathogenic	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1;Infantile myofibromatosis 2;Lateral meningocele syndrome;not provided	RCV000763036;RCV000763036;RCV000763036;RCV000415985	MedGen;OMIM;OMIM;OMIM;Orphanet	C4551768;125310;MedGen;615293;MedGen;130720;ORPHA2789;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs777751303
Clinvar_Rec_10597	rs35793356	Benign/Likely benign	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1;not provided;not specified	RCV000280918;RCV000870821;RCV000242489	MedGen;OMIM	C4551768;125310;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35793356
Clinvar_Rec_10598	rs1568383758	Likely pathogenic	Short stature	RCV000736205	Human Phenotype Ontology;MedGen	HP;C0349588	no assertion criteria provided	tagSNP	rs1568383758
Clinvar_Rec_10599	rs372514243	Uncertain significance	Familial hypertrophic cardiomyopathy 19	RCV000696300	MedGen	C3151266	criteria provided, single submitter	tagSNP	rs372514243
Clinvar_Rec_10600	rs137853927	Pathogenic	Cold-induced sweating syndrome 1	RCV000020621	MedGen;OMIM	C1848947;272430	no assertion criteria provided	tagSNP	rs137853927
Clinvar_Rec_10601	rs137853928	Pathogenic	Cold-induced sweating syndrome 1	RCV000210224	MedGen;OMIM	C1848947;272430	no assertion criteria provided	tagSNP	rs137853928
Clinvar_Rec_10602	rs137853930	Pathogenic	Cold-induced sweating syndrome 1	RCV000020618	MedGen;OMIM	C1848947;272430	no assertion criteria provided	tagSNP	rs137853930
Clinvar_Rec_10603	rs77185131	Benign/Likely benign	Multiple Epiphyseal Dysplasia, Dominant;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;not specified	RCV000266934;RCV000322017;RCV000250953	MedGen;OMIM;Orphanet;SNOMED CT	CN043640;MedGen;177170;ORPHA750;22567005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77185131
Clinvar_Rec_10604	rs34467947	Benign/Likely benign	Multiple Epiphyseal Dysplasia, Dominant;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;not specified	RCV000308597;RCV000363252;RCV000252866	MedGen;OMIM;Orphanet;SNOMED CT	CN043640;MedGen;177170;ORPHA750;22567005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34467947
Clinvar_Rec_10605	rs312262900	Pathogenic	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	RCV000033885	MedGen;OMIM;Orphanet;SNOMED CT	C0410538;177170;ORPHA750;22567005	no assertion criteria provided	tagSNP	rs312262900
Clinvar_Rec_10606	rs312262900	Pathogenic	Multiple epiphyseal dysplasia 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	RCV000055751;RCV000033886	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1838280;132400;ORPHA93308;MedGen;177170;ORPHA750;22567005	no assertion criteria provided	tagSNP	rs312262900
Clinvar_Rec_10607	rs312262900	Pathogenic	Multiple epiphyseal dysplasia 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	RCV000055752;RCV000033887	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1838280;132400;ORPHA93308;MedGen;177170;ORPHA750;22567005	no assertion criteria provided	tagSNP	rs312262900
Clinvar_Rec_10608	rs137852652	Pathogenic	Epiphyseal dysplasia, multiple, 1, severe	RCV000009765	MedGen	C4016660	no assertion criteria provided	tagSNP	rs137852652
Clinvar_Rec_10609	rs753643819	Pathogenic	Bilateral right-sidedness sequence	RCV000625715	MedGen;OMIM;Orphanet;SNOMED CT	C0175707;208530;ORPHA97548;17604001	no assertion criteria provided	tagSNP	rs753643819
Clinvar_Rec_10610	rs886054309	Uncertain significance	MHC Class II Deficiency	RCV000402039	MedGen	CN239286	criteria provided, single submitter	tagSNP	rs886054309
Clinvar_Rec_10611	rs587778192	Uncertain significance	Acute myeloid leukemia;not specified	RCV000533682;RCV000120549	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen	criteria provided, single submitter	tagSNP	rs587778192
Clinvar_Rec_10612	rs886054341	Uncertain significance	Brugada syndrome;Cardiac conduction defect, nonspecific;Generalized epilepsy with febrile seizures plus	RCV000344943;RCV000388798;RCV000287506	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	C1142166;ORPHA130;418818005;EFO;C2748542;MedGen;ORPHA36387	criteria provided, single submitter	tagSNP	rs886054341
Clinvar_Rec_10613	rs762453360	Uncertain significance	Brugada syndrome 5;not provided	RCV000702088;RCV000171043	MedGen;OMIM	C2748541;612838;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762453360
Clinvar_Rec_10614	rs1555720788	Uncertain significance	Brugada syndrome 5	RCV000549414	MedGen;OMIM	C2748541;612838	criteria provided, single submitter	tagSNP	rs1555720788
Clinvar_Rec_10615	rs267607029	Pathogenic	Cardiac conduction defect, nonspecific	RCV000009838	EFO;MedGen	EFO_0005137;C2748542	no assertion criteria provided	tagSNP	rs267607029
Clinvar_Rec_10616	rs750396627	Likely benign	Brugada syndrome 5	RCV000524697	MedGen;OMIM	C2748541;612838	criteria provided, single submitter	tagSNP	rs750396627
Clinvar_Rec_10617	rs780958012	Uncertain significance	Brugada syndrome 5;SCN1B-Related Disorder;not provided	RCV000553474;RCV000709910;RCV000996833	MedGen;OMIM	C2748541;612838;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780958012
Clinvar_Rec_10618	rs150721582	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Seizures;not provided;not specified	RCV000254246;RCV000719381;RCV000713013;RCV000171057	MedGen;MedGen	CN230736;Human Phenotype Ontology;C0036572;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150721582
Clinvar_Rec_10619	rs778740017	Pathogenic	Mitochondrial complex IV deficiency	RCV000201789	MedGen;OMIM;Orphanet;SNOMED CT	C0268237;220110;ORPHA254905;67434000	no assertion criteria provided	tagSNP	rs778740017
Clinvar_Rec_10620	rs1555738943	Pathogenic	Acne inversa, familial, 2	RCV000023659	MedGen;OMIM	C3151037;613736	no assertion criteria provided	tagSNP	rs1555738943
Clinvar_Rec_10621	rs548792892	Uncertain significance	Finnish congenital nephrotic syndrome	RCV000304216	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	criteria provided, single submitter	tagSNP	rs548792892
Clinvar_Rec_10622	rs386833937	Likely pathogenic	Finnish congenital nephrotic syndrome	RCV000049911	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	no assertion criteria provided	tagSNP	rs386833937
Clinvar_Rec_10623	rs137853042	Pathogenic	Finnish congenital nephrotic syndrome	RCV000007270	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	criteria provided, multiple submitters, no conflicts	tagSNP	rs137853042
Clinvar_Rec_10624	rs387906357	no interpretation for the single variant	Finnish congenital nephrotic syndrome	RCV000007275	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	no interpretation for the single variant	tagSNP	rs387906357
Clinvar_Rec_10625	rs386833906	Likely pathogenic	Finnish congenital nephrotic syndrome	RCV000049879	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	no assertion criteria provided	tagSNP	rs386833906
Clinvar_Rec_10626	rs1057517021	Likely pathogenic	Finnish congenital nephrotic syndrome	RCV000408979	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	criteria provided, single submitter	tagSNP	rs1057517021
Clinvar_Rec_10627	rs368913905	Conflicting interpretations of pathogenicity	Finnish congenital nephrotic syndrome;Proteinuria;not provided	RCV000671934;RCV000157398;RCV000910963	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0403399;256300;ORPHA839;197601003;Human Phenotype Ontology;C0033687;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368913905
Clinvar_Rec_10628	rs267606917	Pathogenic	Finnish congenital nephrotic syndrome	RCV000007277	MedGen;OMIM;Orphanet;SNOMED CT	C0403399;256300;ORPHA839;197601003	no assertion criteria provided	tagSNP	rs267606917
Clinvar_Rec_10629	rs886054355	Uncertain significance	Mitochondrial complex II deficiency	RCV000356291	MedGen;OMIM;Orphanet	C1855008;252011;ORPHA3208	criteria provided, single submitter	tagSNP	rs886054355
Clinvar_Rec_10630	rs56739854	Conflicting interpretations of pathogenicity	Primary Microcephaly 2 With or Without Cortical Malformations;not provided;not specified	RCV000270317;RCV000993552;RCV000147919	MedGen	CN239163;MedGen	criteria provided, conflicting interpretations	LD derived	rs143309981
Clinvar_Rec_10631	rs56739854	Benign/Likely benign	Primary autosomal recessive microcephaly 2;not provided;not specified	RCV000606501;RCV000993553;RCV000147947	MedGen;OMIM	C1858535;604317;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77898819
Clinvar_Rec_10632	rs2227260	Benign	Primary Microcephaly 2 With or Without Cortical Malformations;Primary autosomal recessive microcephaly 2;not provided;not specified	RCV000403416;RCV000576369;RCV000710286;RCV000079454	MedGen;OMIM	CN239163;MedGen;604317;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2074435
Clinvar_Rec_10633	rs756898971	Pathogenic	Cataract 45	RCV000208874	MedGen;OMIM	C4225182;616851	no assertion criteria provided	tagSNP	rs756898971
Clinvar_Rec_10634	rs536844317	Conflicting interpretations of pathogenicity	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000293308;RCV000387845;RCV000351916;RCV000488010;RCV000246640	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, conflicting interpretations	LD derived	rs200355885
Clinvar_Rec_10635	rs376748860	Likely pathogenic	Short-rib thoracic dysplasia 3 with or without polydactyly	RCV000256417	MedGen;OMIM;SNOMED CT	C2751311;613091;254051008	no assertion criteria provided	LD derived	rs201037487
Clinvar_Rec_10636	rs542070808	Likely benign	RYR1-Related Disorders	RCV000655715	MedGen	CN239331	criteria provided, single submitter	LD derived	rs201375572
Clinvar_Rec_10637	rs762632406	Likely benign	RYR1-Related Disorders	RCV000655652	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs762632406
Clinvar_Rec_10638	rs764262446	Likely pathogenic	RYR1-Related Disorders;not provided	RCV000655525;RCV000658830	MedGen	CN239331;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764262446
Clinvar_Rec_10639	rs369932139	Uncertain significance	RYR1-Related Disorders	RCV000655599	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs369932139
Clinvar_Rec_10640	rs199826952	Uncertain significance	Malignant hyperthermia, susceptibility to, 1	RCV000210021	MedGen;OMIM	C2930980;145600	criteria provided, single submitter	tagSNP	rs199826952
Clinvar_Rec_10641	rs748568687	Uncertain significance	Inborn genetic diseases;Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders	RCV000210634;RCV000393866;RCV000210019;RCV000302588;RCV000357405;RCV000538947	MeSH;MedGen;Orphanet;OMIM;Orphanet	D030342;C0950123;MedGen;ORPHA423;MedGen;145600;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748568687
Clinvar_Rec_10642	rs150993059	Uncertain significance	Congenital myopathy;Malignant hyperthermia, susceptibility to, 1;RYR1-Related Disorders	RCV000148809;RCV000209988;RCV000655531	MedGen;OMIM;Orphanet;OMIM	C0270960;255300;ORPHA97245;MedGen;145600;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150993059
Clinvar_Rec_10643	rs150442096	Uncertain significance	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders	RCV000388980;RCV000295457;RCV000350419;RCV000701897	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150442096
Clinvar_Rec_10644	rs139006437	Uncertain significance	RYR1-Related Disorders	RCV000655543	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs139006437
Clinvar_Rec_10645	rs145434723	Conflicting interpretations of pathogenicity	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000383257;RCV000343812;RCV000288869;RCV000721487;RCV000249519	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145434723
Clinvar_Rec_10646	rs374776563	Uncertain significance	RYR1-Related Disorders	RCV000559122	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs374776563
Clinvar_Rec_10647	rs1568476203	Pathogenic	Minicore myopathy	RCV000754870	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1850674;255320;ORPHA98905	no assertion criteria provided	tagSNP	rs1568476203
Clinvar_Rec_10648	rs141107290	Benign/Likely benign	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000398418;RCV000301244;RCV000367615;RCV000721570;RCV000251168	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141107290
Clinvar_Rec_10649	rs886054389	Uncertain significance	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber	RCV000347058;RCV000358702;RCV000302644	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, single submitter	tagSNP	rs886054389
Clinvar_Rec_10650	rs879255343	Uncertain significance	Malignant hypothermia	RCV000238803	MedGen	CN234658	criteria provided, single submitter	tagSNP	rs879255343
Clinvar_Rec_10651	rs202061237	Conflicting interpretations of pathogenicity	RYR1-Related Disorders;not provided;not specified	RCV000691898;RCV000721630;RCV000249710	MedGen	CN239331;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202061237
Clinvar_Rec_10652	rs145787667	Uncertain significance	RYR1-Related Disorders;not provided	RCV000655536;RCV000721645	MedGen	CN239331;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145787667
Clinvar_Rec_10653	rs118192178	Pathogenic/Likely pathogenic	Inborn genetic diseases;RYR1-Related Disorders;not provided	RCV000624571;RCV000552166;RCV000119718	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118192178
Clinvar_Rec_10654	rs118192178	drug response	desflurane response - Toxicity/ADR;enflurane response - Toxicity/ADR;halothane response - Toxicity/ADR;isoflurane response - Toxicity/ADR;methoxyflurane response - Toxicity/ADR;not provided;sevoflurane response - Toxicity/ADR;succinylcholine response - Toxicity/ADR	RCV000786469;RCV000786470;RCV000786471;RCV000786472;RCV000786473;RCV000119717;RCV000786474;RCV000786475	na;na;na;na;na;MedGen	CN517202;na;na	reviewed by expert panel	tagSNP	rs118192178
Clinvar_Rec_10655	rs114975624	Conflicting interpretations of pathogenicity	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000307589;RCV000276971;RCV000369238;RCV000147443;RCV000079168	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114975624
Clinvar_Rec_10656	rs754339645	Uncertain significance	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided	RCV000310433;RCV000405550;RCV000344167;RCV001069116;RCV000721666	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754339645
Clinvar_Rec_10657	rs79294840	Benign/Likely benign	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000288413;RCV000405982;RCV000310650;RCV000555564;RCV000079182	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79294840
Clinvar_Rec_10658	rs79294840	Benign/Likely benign	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000313484;RCV000370460;RCV000405734;RCV000544088;RCV000079183	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116537677
Clinvar_Rec_10659	rs79294840	Benign/Likely benign	Malignant hyperthermia susceptibility;Multiminicore Disease;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified	RCV000356593;RCV000357591;RCV000299239;RCV000538736;RCV000079120	MedGen;Orphanet;Orphanet	C0024591;ORPHA423;MedGen;ORPHA598;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114351116
Clinvar_Rec_10660	rs759514075	Uncertain significance	RYR1-Related Disorders	RCV000704594	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs759514075
Clinvar_Rec_10661	rs760809784	Uncertain significance	RYR1-Related Disorders	RCV000691160	MedGen	CN239331	criteria provided, single submitter	tagSNP	rs760809784
Clinvar_Rec_10662	rs377178986	Conflicting interpretations of pathogenicity	Congenital myopathy;Congenital myopathy with fiber type disproportion;Malignant hyperthermia, susceptibility to, 1;Malignant hyperthermia, susceptibility to, 1;Minicore myopathy;RYR1-Related Disorders;not provided	RCV000148788;RCV000763428;RCV000763428;RCV000990206;RCV000763428;RCV000704053;RCV000721251	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;MedGen;OMIM;Orphanet	C0270960;255300;ORPHA97245;MedGen;255310;ORPHA2020;240084007;MedGen;145600;MedGen;145600;Human Phenotype Ontology;C1850674;255320;ORPHA98905;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377178986
Clinvar_Rec_10663	rs765758001	Uncertain significance	RYR1-Related Disorders;not provided	RCV000812450;RCV000721264	MedGen	CN239331;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765758001
Clinvar_Rec_10664	rs368874586	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Malignant hyperthermia;RYR1-Related Disorders;not provided	RCV000210545;RCV000590883;RCV000793270;RCV000721408	MeSH;MedGen;MedGen	D030342;C0950123;Human Phenotype Ontology;CN209346;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368874586
Clinvar_Rec_10665	rs12462270	Benign	Focal segmental glomerulosclerosis 1;not specified	RCV000576718;RCV000250045	MedGen;OMIM;Orphanet	C4551527;603278;ORPHA93213;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3745859
Clinvar_Rec_10666	rs571320003	Uncertain significance	Malignant hyperthermia, susceptibility to, 1	RCV000210018	MedGen;OMIM	C2930980;145600	criteria provided, single submitter	LD derived	rs201940876
Clinvar_Rec_10667	rs564961396	Uncertain significance	Malignant hyperthermia, susceptibility to, 1	RCV000210022	MedGen;OMIM	C2930980;145600	criteria provided, single submitter	LD derived	rs571494344
Clinvar_Rec_10668	rs886054430	Uncertain significance	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	RCV000396777	MedGen;OMIM;Orphanet	C3151209;613845;ORPHA363694	criteria provided, single submitter	tagSNP	rs886054430
Clinvar_Rec_10669	rs370673772	Conflicting interpretations of pathogenicity	Abnormality of brain morphology;not provided	RCV000454146;RCV000514634	Human Phenotype Ontology;MedGen	HP;C4021085;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370673772
Clinvar_Rec_10670	rs146274789	Uncertain significance	Jarcho-Levin syndrome;Non-syndromic syndactyly;not provided	RCV000314071;RCV000371101;RCV000384129	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	C0265343;ORPHA2311;61367005;Human Phenotype Ontology;C0039075;ORPHA90025;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146274789
Clinvar_Rec_10671	rs1555756363	Uncertain significance	Joubert syndrome;Meckel-Gruber syndrome	RCV000533750;RCV000533750	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005	criteria provided, single submitter	tagSNP	rs1555756363
Clinvar_Rec_10672	rs368393895	Conflicting interpretations of pathogenicity	Meckel-Gruber syndrome;not provided	RCV000321647;RCV000867360	MedGen;Orphanet;SNOMED CT	C0265215;ORPHA564;29076005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368393895
Clinvar_Rec_10673	rs138731997	Likely benign	Maple syrup urine disease;not specified	RCV000337766;RCV000079215	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs45500792
Clinvar_Rec_10674	rs188135164	Uncertain significance	Maple syrup urine disease	RCV000526694	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	tagSNP	rs188135164
Clinvar_Rec_10675	rs1057516032	Pathogenic	Alternating hemiplegia of childhood 2	RCV000408604	MedGen;OMIM	C3553788;614820	criteria provided, single submitter	tagSNP	rs1057516032
Clinvar_Rec_10676	rs374157034	Likely benign	Dystonia 12	RCV000644931	MedGen;OMIM;Orphanet	C1868681;128235;ORPHA71517	criteria provided, single submitter	tagSNP	rs374157034
Clinvar_Rec_10677	rs1135401821	Likely pathogenic	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	RCV000496204	MedGen;OMIM;Orphanet	C1832466;601338;ORPHA1171	criteria provided, single submitter	tagSNP	rs1135401821
Clinvar_Rec_10678	rs879996553	Uncertain significance	Alternating hemiplegia of childhood;Dystonia 12	RCV000402858;RCV000307303	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0338488;ORPHA2131;230466004;MedGen;128235;ORPHA71517	criteria provided, single submitter	tagSNP	rs879996553
Clinvar_Rec_10679	rs1555750816	Pathogenic	Craniosynostosis 1	RCV000653728	MedGen;OMIM	C4551902;123100	criteria provided, single submitter	tagSNP	rs1555750816
Clinvar_Rec_10680	rs756235299	Likely pathogenic	Ethylmalonic encephalopathy;not provided	RCV000501489;RCV000523639	MedGen;OMIM;Orphanet	C1865349;602473;ORPHA51188;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756235299
Clinvar_Rec_10681	rs28940289	Pathogenic	Ethylmalonic encephalopathy	RCV000599431	MedGen;OMIM;Orphanet	C1865349;602473;ORPHA51188	no assertion criteria provided	tagSNP	rs28940289
Clinvar_Rec_10682	rs28940289	Pathogenic	Ethylmalonic encephalopathy	RCV000002407	MedGen;OMIM;Orphanet	C1865349;602473;ORPHA51188	criteria provided, single submitter	tagSNP	rs28940289
Clinvar_Rec_10683	rs1555768154	Pathogenic	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	RCV000499383	MedGen;OMIM	C4539948;617633	no assertion criteria provided	tagSNP	rs1555768154
Clinvar_Rec_10684	rs115299243	Benign	Familial type 3 hyperlipoproteinemia;Familial type 3 hyperlipoproteinemia;not provided	RCV000019432;RCV000019443;RCV000884152	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0020479;617347;ORPHA412;398796005;MedGen;617347;ORPHA412;398796005;MedGen	criteria provided, single submitter	LD derived	rs769455
Clinvar_Rec_10685	rs184044224	Uncertain significance	Hermansky-Pudlak syndrome	RCV000330056	MedGen;Orphanet;SNOMED CT	C0079504;ORPHA79430;9311003	criteria provided, single submitter	tagSNP	rs184044224
Clinvar_Rec_10686	rs886054495	Uncertain significance	Xeroderma pigmentosum	RCV000313554	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs886054495
Clinvar_Rec_10687	rs201392911	Uncertain significance	Inborn genetic diseases;not specified	RCV000624067;RCV000120773	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, single submitter	tagSNP	rs201392911
Clinvar_Rec_10688	rs886054511	Uncertain significance	3-Methylglutaconic aciduria type 3;Optic Atrophy, Dominant	RCV000301150;RCV000408325	MedGen;OMIM;Orphanet;SNOMED CT	C0574084;258501;ORPHA67047;297232009;MedGen	criteria provided, single submitter	tagSNP	rs886054511
Clinvar_Rec_10689	rs886038682	Likely benign	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;not specified	RCV000668941;RCV000248317	MedGen;OMIM;Orphanet	C1846672;607155;ORPHA34515;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886038682
Clinvar_Rec_10690	rs143031195	Conflicting interpretations of pathogenicity	Walker-Warburg congenital muscular dystrophy;not provided	RCV000473789;RCV000657079	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143031195
Clinvar_Rec_10691	rs104894673	Likely pathogenic	Leber congenital amaurosis 7;Retinal dystrophy;not provided	RCV000007847;RCV001074643;RCV000086364	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C3151192;613829;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs104894673
Clinvar_Rec_10692	rs369825835	Uncertain significance	Primary ciliary dyskinesia	RCV000629351	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs369825835
Clinvar_Rec_10693	rs200808081	Likely benign	Primary ciliary dyskinesia	RCV000629522	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs200808081
Clinvar_Rec_10694	rs104894688	Pathogenic	Para-Bombay phenotype	RCV000012924	MedGen	C1859411	no assertion criteria provided	tagSNP	rs104894688
Clinvar_Rec_10695	rs886054572	Uncertain significance	Glycogen storage disease 0, muscle	RCV000272808	MedGen;OMIM;Orphanet	C1969054;611556;ORPHA137625	criteria provided, single submitter	tagSNP	rs886054572
Clinvar_Rec_10696	rs3795052	no interpretation for the single variant	LUTEINIZING HORMONE POLYMORPHISM	RCV000015495	-	-	no interpretation for the single variant	LD derived	rs1800447
Clinvar_Rec_10697	rs1555750883	Uncertain significance	Inborn genetic diseases	RCV000623391	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555750883
Clinvar_Rec_10698	rs373749900	Uncertain significance	Cardiovascular phenotype	RCV000619512	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs373749900
Clinvar_Rec_10699	rs200633475	Conflicting interpretations of pathogenicity	Progressive familial heart block;not provided;not specified	RCV000394338;RCV000467270;RCV000607635	MedGen;Orphanet	CN230454;ORPHA871;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200633475
Clinvar_Rec_10700	rs35516880	Benign/Likely benign	Cardiovascular phenotype;Progressive familial heart block;not provided;not specified	RCV000242456;RCV000381295;RCV000456969;RCV000428549	MedGen;Orphanet	CN230736;MedGen;ORPHA871;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35516880
Clinvar_Rec_10701	rs761801567	Uncertain significance	Progressive familial heart block	RCV000340959	MedGen;Orphanet	CN230454;ORPHA871	criteria provided, single submitter	tagSNP	rs761801567
Clinvar_Rec_10702	rs77400039	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;not provided;not specified	RCV000471534;RCV000857541;RCV000175953	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77400039
Clinvar_Rec_10703	rs148214958	Uncertain significance	Basel-Vanagaite-Smirin-Yosef syndrome;Charcot-Marie-Tooth disease type 2B2;Charcot-Marie-Tooth disease, type 2;not provided	RCV000765458;RCV000765458;RCV000197425;RCV000756328	MedGen;OMIM;Orphanet;OMIM;Orphanet;Orphanet	C4225323;616449;ORPHA464738;MedGen;605589;ORPHA101101;MedGen;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148214958
Clinvar_Rec_10704	rs786205207	Likely pathogenic	Ataxia-oculomotor apraxia 4;Early infantile epileptic encephalopathy 10	RCV000170438;RCV000500375	MedGen;OMIM;Orphanet;OMIM	C4225397;616267;ORPHA459033;MedGen;613402	criteria provided, single submitter	tagSNP	rs786205207
Clinvar_Rec_10705	rs576515656	Uncertain significance	Colorectal cancer 10	RCV000546801	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	LD derived	rs9282831
Clinvar_Rec_10706	rs34498817	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000397491;RCV000827076;RCV000037018	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34498817
Clinvar_Rec_10707	rs368124508	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000300984;RCV000930406;RCV000218249	MedGen	CN239435;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368124508
Clinvar_Rec_10708	rs766802012	Uncertain significance	Nonsyndromic Hearing Loss, Dominant	RCV000338203	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs766802012
Clinvar_Rec_10709	rs78573213	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not specified	RCV000353896;RCV000151189	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs78573213
Clinvar_Rec_10710	rs11669191	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000357017;RCV000756384;RCV000037044	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11669191
Clinvar_Rec_10711	rs769989306	Uncertain significance	Nonsyndromic Hearing Loss, Dominant	RCV000397751	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs769989306
Clinvar_Rec_10712	rs627491	Benign	Nonsyndromic Hearing Loss, Dominant	RCV000380406	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs627491
Clinvar_Rec_10713	rs1555789893	Uncertain significance	Colorectal cancer 10	RCV000534127	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555789893
Clinvar_Rec_10714	rs774283364	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000574612;RCV000645942;RCV000444328	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774283364
Clinvar_Rec_10715	rs772804822	Uncertain significance	Colorectal cancer 10	RCV000474576	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs772804822
Clinvar_Rec_10716	rs76131127	Benign/Likely benign	Colorectal cancer 10;not provided;not specified	RCV000990251;RCV000679526;RCV000431487	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76131127
Clinvar_Rec_10717	rs1057522351	Uncertain significance	Colorectal cancer 10	RCV000560127	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1057522351
Clinvar_Rec_10718	rs746700905	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001010310;RCV000465435	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746700905
Clinvar_Rec_10719	rs1555791103	Uncertain significance	Colorectal cancer 10	RCV000645876	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555791103
Clinvar_Rec_10720	rs767560532	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000565592	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs767560532
Clinvar_Rec_10721	rs767560532	Uncertain significance	Colorectal cancer 10	RCV000231903	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs767560532
Clinvar_Rec_10722	rs878854520	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562598	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs878854520
Clinvar_Rec_10723	rs878854520	Uncertain significance	Colorectal cancer 10;Hereditary cancer-predisposing syndrome	RCV000232435;RCV001011064	MedGen;OMIM;Orphanet;SNOMED CT	C2675481;612591;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854520
Clinvar_Rec_10724	rs1457008478	Uncertain significance	Colorectal cancer 10	RCV000530112	MedGen;OMIM	C2675481;612591	criteria provided, multiple submitters, no conflicts	tagSNP	rs1457008478
Clinvar_Rec_10725	rs1555791147	Uncertain significance	Colorectal cancer 10	RCV000558655	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555791147
Clinvar_Rec_10726	rs1293284420	Uncertain significance	Colorectal cancer 10	RCV000549189	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1293284420
Clinvar_Rec_10727	rs1354117345	Uncertain significance	Colorectal cancer 10;not specified	RCV000799439;RCV000601615	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1354117345
Clinvar_Rec_10728	rs1555791523	Likely benign	Colorectal cancer 10;Hereditary cancer-predisposing syndrome	RCV000537903;RCV000573463	MedGen;OMIM;Orphanet;SNOMED CT	C2675481;612591;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555791523
Clinvar_Rec_10729	rs1568630394	Uncertain significance	Colorectal cancer 10	RCV000686516	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1568630394
Clinvar_Rec_10730	rs147108748	Benign/Likely benign	Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000990263;RCV000570932;RCV000228991;RCV000440964	MedGen;OMIM;Orphanet;SNOMED CT	C2675481;612591;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147108748
Clinvar_Rec_10731	rs1057521633	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000573778;RCV000427450	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057521633
Clinvar_Rec_10732	rs1203736050	Uncertain significance	Colorectal cancer 10;not provided	RCV000560470;RCV000759229	MedGen;OMIM	C2675481;612591;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1203736050
Clinvar_Rec_10733	rs1555793883	Uncertain significance	Colorectal cancer 10	RCV000645791	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555793883
Clinvar_Rec_10734	rs895709341	Uncertain significance	Colorectal cancer 10	RCV000551550	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs895709341
Clinvar_Rec_10735	rs185286420	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567320;RCV000827273	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201261298
Clinvar_Rec_10736	rs201791049	Pathogenic	Glutaric acidemia IIB	RCV000018200	MedGen	C3278155	no assertion criteria provided	LD derived	rs104894677
Clinvar_Rec_10737	rs376154735	Likely benign	Familial cold autoinflammatory syndrome;not provided	RCV000343303;RCV000884290	MedGen	C0343068;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200813801
Clinvar_Rec_10738	rs199475872	Uncertain significance	Familial cold autoinflammatory syndrome	RCV000364619	MedGen	C0343068	criteria provided, single submitter	tagSNP	rs199475872
Clinvar_Rec_10739	rs1302931500	Pathogenic	Familial cold autoinflammatory syndrome 2	RCV000696336	MedGen;OMIM;Orphanet	C2673198;611762;ORPHA247868	criteria provided, single submitter	tagSNP	rs1302931500
Clinvar_Rec_10740	rs1403147116	Uncertain significance	Familial cold autoinflammatory syndrome 2	RCV000626010	MedGen;OMIM;Orphanet	C2673198;611762;ORPHA247868	criteria provided, single submitter	tagSNP	rs1403147116
Clinvar_Rec_10741	rs549438462	Likely benign	Familial cold autoinflammatory syndrome	RCV000347730	MedGen	C0343068	criteria provided, single submitter	LD derived	rs566677129
Clinvar_Rec_10742	rs2242244	Benign/Likely benign	Spinocerebellar Ataxia, Dominant;not specified	RCV000367304;RCV000174736	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2242244
Clinvar_Rec_10743	rs1555792415	Likely pathogenic	Retinal dystrophy	RCV000504670	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs1555792415
Clinvar_Rec_10744	rs369448809	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000340511	MedGen	CN239354	criteria provided, single submitter	LD derived	rs587763567
Clinvar_Rec_10745	rs144738703	Likely pathogenic	Retinitis pigmentosa	RCV000132674	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs144738703
Clinvar_Rec_10746	rs119475042	Pathogenic	Retinitis pigmentosa 11	RCV000004607	MedGen;OMIM	C1838601;600138	no assertion criteria provided	tagSNP	rs119475042
Clinvar_Rec_10747	rs878853333	Uncertain significance	Retinal dystrophy	RCV000225444	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs878853333
Clinvar_Rec_10748	rs567456409	Uncertain significance	Hydatidiform mole, recurrent, 1	RCV000392533	MedGen;OMIM;Orphanet	C3463897;231090;ORPHA254685	criteria provided, single submitter	LD derived	rs200965650
Clinvar_Rec_10749	rs104895540	not provided	Hydatidiform mole, recurrent, 1	RCV000084002	MedGen;OMIM;Orphanet	C3463897;231090;ORPHA254685	no assertion provided	tagSNP	rs104895540
Clinvar_Rec_10750	rs104895559	not provided	Hydatidiform mole, recurrent, 1	RCV000083972	MedGen;OMIM;Orphanet	C3463897;231090;ORPHA254685	no assertion provided	tagSNP	rs104895559
Clinvar_Rec_10751	rs141774400	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 5;not provided	RCV000297269;RCV000641949;RCV000724813	MedGen;OMIM;Orphanet	CN239479;MedGen;605355;ORPHA98902;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141774400
Clinvar_Rec_10752	rs759885491	Uncertain significance	Nemaline Myopathy, Recessive	RCV000303349	MedGen	CN239479	criteria provided, single submitter	tagSNP	rs759885491
Clinvar_Rec_10753	rs767677564	Uncertain significance	Primary ciliary dyskinesia	RCV000548530	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs767677564
Clinvar_Rec_10754	rs200775946	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000392333;RCV000595456	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200775946
Clinvar_Rec_10755	rs1461569802	Uncertain significance	Primary ciliary dyskinesia	RCV000629511	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1461569802
Clinvar_Rec_10756	rs532398239	Uncertain significance	Myasthenic syndrome, congenital, 8;not provided	RCV000651355;RCV000761625	MedGen;OMIM	C3808739;615120;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140789461
Clinvar_Rec_10757	rs139983410	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000701536	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs139983410
Clinvar_Rec_10758	rs149814455	Uncertain significance	Myasthenic syndrome, congenital, 8	RCV000698736	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs149814455
Clinvar_Rec_10759	rs373508468	Uncertain significance	Idiopathic generalized epilepsy	RCV000555228	MedGen;OMIM;SNOMED CT	C0270850;600669;36803009	criteria provided, single submitter	tagSNP	rs373508468
Clinvar_Rec_10760	rs367776284	Likely benign	Idiopathic generalized epilepsy	RCV000546205	MedGen;OMIM;SNOMED CT	C0270850;600669;36803009	criteria provided, single submitter	tagSNP	rs367776284
Clinvar_Rec_10761	rs146452560	Conflicting interpretations of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000366305;RCV000960578;RCV000249703	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146452560
Clinvar_Rec_10762	rs2494598	Benign	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000326499;RCV000676046;RCV000117902	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2494598
Clinvar_Rec_10763	rs772557308	Uncertain significance	Left ventricular noncompaction 8	RCV000699308	MedGen;OMIM	C3809288;615373	criteria provided, single submitter	tagSNP	rs772557308
Clinvar_Rec_10764	rs374562445	Uncertain significance	Left ventricular noncompaction 8	RCV000651650	MedGen;OMIM	C3809288;615373	criteria provided, single submitter	tagSNP	rs374562445
Clinvar_Rec_10765	rs760874774	Uncertain significance	Nephronophthisis;Renal dysplasia and retinal aplasia;not provided	RCV000303466;RCV000392493;RCV000730132	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen;ORPHA3156;236531005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760874774
Clinvar_Rec_10766	rs754216736	Uncertain significance	Nephronophthisis;not provided	RCV001039512;RCV000728137	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754216736
Clinvar_Rec_10767	rs112206586	Conflicting interpretations of pathogenicity	Nephronophthisis 4;Senior-Loken syndrome 4;not provided	RCV000765251;RCV000765251;RCV000284900	MedGen;OMIM;OMIM	C1847013;606966;MedGen;606996;MedGen	criteria provided, conflicting interpretations	tagSNP	rs112206586
Clinvar_Rec_10768	rs369335626	Uncertain significance	Nephronophthisis;Renal dysplasia and retinal aplasia;not provided	RCV000274871;RCV000369396;RCV000730031	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen;ORPHA3156;236531005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369335626
Clinvar_Rec_10769	rs191602135	Conflicting interpretations of pathogenicity	Nephronophthisis;Renal dysplasia and retinal aplasia;not provided;not specified	RCV000335529;RCV000371477;RCV000862330;RCV000175082	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen;ORPHA3156;236531005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs191602135
Clinvar_Rec_10770	rs377160096	Uncertain significance	Nephronophthisis;Renal dysplasia and retinal aplasia;not provided	RCV000304601;RCV000392231;RCV000734513	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen;ORPHA3156;236531005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377160096
Clinvar_Rec_10771	rs34221914	Uncertain significance	Distal spinal muscular atrophy	RCV000276085	MedGen;Orphanet;SNOMED CT	C0393541;ORPHA53739;230247001	criteria provided, single submitter	LD derived	rs11800788
Clinvar_Rec_10772	rs187886272	Uncertain significance	Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy;Distal spinal muscular atrophy, autosomal recessive 4	RCV000645440;RCV000284414;RCV000645440	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet	C3809309;615376;ORPHA369867;MedGen;ORPHA53739;230247001;MedGen;611067;ORPHA206580	criteria provided, multiple submitters, no conflicts	tagSNP	rs187886272
Clinvar_Rec_10773	rs187886272	Uncertain significance	Deafness, autosomal recessive 36, with or without vestibular involvement;not provided	RCV000764073;RCV000519748	MedGen;OMIM	C1837007;609006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs189442618
Clinvar_Rec_10774	rs753662166	Uncertain significance	Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy, autosomal recessive 4	RCV000704848;RCV000704848	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809309;615376;ORPHA369867;MedGen;611067;ORPHA206580	criteria provided, single submitter	tagSNP	rs753662166
Clinvar_Rec_10775	rs146020517	Uncertain significance	Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy, autosomal recessive 4	RCV000645418;RCV000645418	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809309;615376;ORPHA369867;MedGen;611067;ORPHA206580	criteria provided, single submitter	tagSNP	rs146020517
Clinvar_Rec_10776	rs61730399	Conflicting interpretations of pathogenicity	Distal spinal muscular atrophy;not provided;not specified	RCV000262915;RCV000527612;RCV000423998	MedGen;Orphanet;SNOMED CT	C0393541;ORPHA53739;230247001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61730399
Clinvar_Rec_10777	rs117505788	Benign/Likely benign	Distal spinal muscular atrophy;not provided;not specified	RCV000370430;RCV000755623;RCV000421096	MedGen;Orphanet;SNOMED CT	C0393541;ORPHA53739;230247001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117505788
Clinvar_Rec_10778	rs781036625	Pathogenic	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	RCV000492068	MedGen;OMIM	C4479636;617532	no assertion criteria provided	tagSNP	rs781036625
Clinvar_Rec_10779	rs768528387	Likely pathogenic	Leber congenital amaurosis	RCV000504653	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	no assertion criteria provided	tagSNP	rs768528387
Clinvar_Rec_10780	rs34063243	Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000331235;RCV000276962;RCV000385711	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs34063243
Clinvar_Rec_10781	rs41274464	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000203918;RCV000399328;RCV000336206;RCV000857393;RCV000254281	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138324955
Clinvar_Rec_10782	rs41274464	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000205237;RCV000362928;RCV000401724;RCV000857394;RCV000250320	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139613776
Clinvar_Rec_10783	rs149524751	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000203918;RCV000399328;RCV000336206;RCV000857393;RCV000254281	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138324955
Clinvar_Rec_10784	rs149524751	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000205237;RCV000362928;RCV000401724;RCV000857394;RCV000250320	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139613776
Clinvar_Rec_10785	rs121908163	Conflicting interpretations of pathogenicity	Neuroblastoma;Neuroblastoma 1;not provided	RCV000490400;RCV000004924;RCV000865916	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D009447;C2749484;256700;ORPHA635;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121908163
Clinvar_Rec_10786	rs145969842	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000469029;RCV000373752;RCV000315786	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs145969842
Clinvar_Rec_10787	rs61999305	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not provided;not specified	RCV000226083;RCV000386631;RCV000332870;RCV000514644;RCV001000051	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61999305
Clinvar_Rec_10788	rs148690591	Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000328604;RCV000292329;RCV000383250	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs148690591
Clinvar_Rec_10789	rs886044990	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000377571;RCV000282887;RCV000322969	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs886044990
Clinvar_Rec_10790	rs886044986	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000337967;RCV000373964;RCV000279205	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs886044986
Clinvar_Rec_10791	rs201136295	Uncertain significance	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000404769;RCV000310620;RCV000349591	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs201136295
Clinvar_Rec_10792	rs192312673	Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000351741;RCV000391257;RCV000307539	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs192312673
Clinvar_Rec_10793	rs548680591	Likely benign	Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma	RCV000391358;RCV000308905;RCV000362280	MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;MedGen;OMIM	C0270914;ORPHA64746;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs548680591
Clinvar_Rec_10794	rs267607102	Pathogenic	FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED	RCV000005549	MedGen	C3150170	no assertion criteria provided	tagSNP	rs267607102
Clinvar_Rec_10795	rs80356725	Uncertain significance	Amyotrophic lateral sclerosis type 10;TARDBP-related frontotemporal dementia	RCV000694078;RCV000694078	MedGen;OMIM	C2677565;612069;MedGen	criteria provided, single submitter	tagSNP	rs80356725
Clinvar_Rec_10796	rs1553171141	Uncertain significance	Inborn genetic diseases	RCV000623806	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553171141
Clinvar_Rec_10797	rs1057519779	Pathogenic/Likely pathogenic	Focal cortical dysplasia type II;Kidney Carcinoma	RCV000477729;RCV000422999	MedGen;OMIM;Orphanet	C1846385;607341;ORPHA268994;MedGen	no assertion criteria provided	tagSNP	rs1057519779
Clinvar_Rec_10798	rs748615089	Uncertain significance	Schnyder crystalline corneal dystrophy	RCV000289699	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	criteria provided, single submitter	tagSNP	rs748615089
Clinvar_Rec_10799	rs3063961	Benign	Schnyder crystalline corneal dystrophy	RCV000335467	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	criteria provided, single submitter	tagSNP	rs3063961
Clinvar_Rec_10800	rs115210853	Likely benign	Schnyder crystalline corneal dystrophy	RCV000398620	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0271287;121800;ORPHA98967;39662004;419395007	criteria provided, single submitter	tagSNP	rs115210853
Clinvar_Rec_10801	rs538074274	Uncertain significance	Neural tube defects, folate-sensitive	RCV000296447	MedGen;OMIM	C1866558;601634	criteria provided, single submitter	tagSNP	rs538074274
Clinvar_Rec_10802	rs143100671	Uncertain significance	Neural tube defects, folate-sensitive	RCV000392546	MedGen;OMIM	C1866558;601634	criteria provided, single submitter	tagSNP	rs143100671
Clinvar_Rec_10803	rs750301725	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000698919	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	tagSNP	rs750301725
Clinvar_Rec_10804	rs1553142699	Uncertain significance	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	RCV000790032;RCV000664056	MedGen;Orphanet;SNOMED CT;OMIM	C0007959;ORPHA166;50548001;MedGen;617087	criteria provided, single submitter	tagSNP	rs1553142699
Clinvar_Rec_10805	rs119103262	Pathogenic	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 2;not specified	RCV000789411;RCV000802072;RCV000506106	MedGen;Orphanet;SNOMED CT;Orphanet	C0007959;ORPHA166;50548001;MedGen;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs119103262
Clinvar_Rec_10806	rs119103262	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 2A2A	RCV000789416;RCV000002363	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;609260;ORPHA99947	no assertion criteria provided	tagSNP	rs119103262
Clinvar_Rec_10807	rs1557522849	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A	RCV000697586;RCV000986242	MedGen;Orphanet;OMIM;Orphanet	C0270914;ORPHA64746;MedGen;609260;ORPHA99947	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557522849
Clinvar_Rec_10808	rs863224967	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A	RCV000793093;RCV000201123	MedGen;Orphanet;OMIM;Orphanet	C0270914;ORPHA64746;MedGen;609260;ORPHA99947	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224967
Clinvar_Rec_10809	rs1553144059	Uncertain significance	Charcot-Marie-Tooth disease;not specified	RCV000789384;RCV000518540	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs1553144059
Clinvar_Rec_10810	rs143428548	Likely benign	Charcot-Marie-Tooth disease, type 2;not specified	RCV000653969;RCV000437275	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143428548
Clinvar_Rec_10811	rs14305	Likely benign	Charcot-Marie-Tooth disease, type 2;Hereditary motor and sensory neuropathy	RCV000286750;RCV000323029	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, single submitter	tagSNP	rs14305
Clinvar_Rec_10812	rs532893207	Uncertain significance	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000634754	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	criteria provided, single submitter	LD derived	rs145482271
Clinvar_Rec_10813	rs1553253990	Pathogenic	Fontaine progeroid syndrome	RCV000508644	MedGen;OMIM;Orphanet;SNOMED CT	C2676780;612289;ORPHA2095;205800003	criteria provided, single submitter	tagSNP	rs1553253990
Clinvar_Rec_10814	rs1553216524	Likely pathogenic	Chudley-McCullough syndrome	RCV000626209	MedGen;OMIM;Orphanet	C1858695;604213;ORPHA314597	criteria provided, single submitter	tagSNP	rs1553216524
Clinvar_Rec_10815	rs1240543072	Likely pathogenic	Achromatopsia 4	RCV000761394	MedGen;OMIM	C1841721;613856	no assertion criteria provided	tagSNP	rs1240543072
Clinvar_Rec_10816	rs11811205	Likely benign	Hyperinsulinism, Dominant	RCV000396709	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs11811205
Clinvar_Rec_10817	rs144301005	Uncertain significance	Hyperinsulinism, Dominant	RCV000309812	MedGen	CN239341	criteria provided, single submitter	tagSNP	rs144301005
Clinvar_Rec_10818	rs149797505	Uncertain significance	Erythrocyte lactate transporter defect;not specified	RCV000009470;RCV000193787	MedGen;OMIM;Orphanet	C1855577;245340;ORPHA171690;MedGen	criteria provided, single submitter	LD derived	rs72552271
Clinvar_Rec_10819	rs587779372	Uncertain significance	Autistic disorder of childhood onset	RCV000143847	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0004352;209850;43614003	criteria provided, single submitter	tagSNP	rs587779372
Clinvar_Rec_10820	rs1057519695	Pathogenic	Cutaneous melanoma	RCV000443704	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;C0025202	no assertion criteria provided	tagSNP	rs1057519695
Clinvar_Rec_10821	rs1057519695	Pathogenic	Cutaneous melanoma	RCV000425830	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;C0025202	no assertion criteria provided	tagSNP	rs1057519695
Clinvar_Rec_10822	rs11554290	Pathogenic/Likely pathogenic	Acute myeloid leukemia;Adenocarcinoma of stomach;Adrenocortical carcinoma;Chronic lymphocytic leukemia;Cutaneous melanoma;Glioblastoma;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of the large intestine;Neoplasm of the thyroid gland;Non-small cell lung cancer;Ovarian Serous Cystadenocarcinoma;Renal cell carcinoma, papillary, 1;Transitional cell carcinoma of the bladder	RCV000424084;RCV000444899;RCV000444188;RCV000433761;RCV000436539;RCV000422640;RCV000423898;RCV000433349;RCV000435905;RCV000418220;RCV000428055;RCV000444754;RCV000441171;RCV000418396;RCV000431333;RCV000435412;RCV000429082;RCV000426122;RCV000438738	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;Human Phenotype Ontology;D008545;C0025202;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;MeSH;C0027439;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087;Human Phenotype Ontology;D002289;C0007131;254637007;MedGen;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs11554290
Clinvar_Rec_10823	rs11554290	Pathogenic	Acute myeloid leukemia;Adenocarcinoma of stomach;Adrenocortical carcinoma;Chronic lymphocytic leukemia;Cutaneous melanoma;Epidermal nevus;Epidermal nevus syndrome;Follicular thyroid carcinoma;Glioblastoma;Hepatocellular carcinoma;Large congenital melanocytic nevus;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of the large intestine;Neurocutaneous melanocytosis;Non-small cell lung cancer;Ovarian Serous Cystadenocarcinoma;Renal cell carcinoma, papillary, 1;Transitional cell carcinoma of the bladder;not provided	RCV000441317;RCV000439264;RCV000422078;RCV000420832;RCV000424960;RCV000032847;RCV000148032;RCV000014914;RCV000438052;RCV000432961;RCV000114744;RCV000424721;RCV000430407;RCV000445249;RCV000431883;RCV000430593;RCV000424455;RCV000435687;RCV000114745;RCV000037574;RCV000422278;RCV000419710;RCV000440367;RCV000413804	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT;MedGen;OMIM;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;OMIM;Orphanet;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;OMIM;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;Human Phenotype Ontology;D008545;C0025202;Human Phenotype Ontology;C0334082;162900;ORPHA35125;25201003;MedGen;163200;239112008;Human Phenotype Ontology;C4225426;188470;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C1842036;137550;ORPHA626;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;MeSH;C0027439;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D015179;C0009404;126837005;MedGen;249400;ORPHA2481;Human Phenotype Ontology;D002289;C0007131;254637007;MedGen;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;C0279680;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11554290
Clinvar_Rec_10824	rs11554290	Pathogenic	Acute myeloid leukemia;Adenocarcinoma of stomach;Adrenocortical carcinoma;Chronic lymphocytic leukemia;Cutaneous melanoma;Glioblastoma;Hepatocellular carcinoma;Lung adenocarcinoma;Malignant melanoma of skin;Malignant neoplasm of body of uterus;Multiple myeloma;Nasopharyngeal Neoplasms;Neoplasm of brain;Neoplasm of the large intestine;Neoplasm of the thyroid gland;Non-small cell lung cancer;Ovarian Serous Cystadenocarcinoma;Renal cell carcinoma, papillary, 1;Transitional cell carcinoma of the bladder;not provided	RCV000444278;RCV000421291;RCV000419053;RCV000420302;RCV000431592;RCV000432170;RCV000437545;RCV000439765;RCV000427746;RCV000421496;RCV000419201;RCV000426654;RCV000434604;RCV000430000;RCV000438468;RCV000428903;RCV000439526;RCV000444660;RCV000437312;RCV000291285	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MedGen;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;D018268;C0206686;ORPHA1501;Human Phenotype Ontology;D015451;C0023434;151400;ORPHA67038;277473004;51092000;Human Phenotype Ontology;D008545;C0025202;MeSH;C0017636;ORPHA360;63634009;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009101;C0026764;254500;ORPHA29073;109989006;55921005;MeSH;C0027439;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;D013964;C0040136;ORPHA100087;Human Phenotype Ontology;D002289;C0007131;254637007;MedGen;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;C0279680;MedGen	criteria provided, single submitter	tagSNP	rs11554290
Clinvar_Rec_10825	rs2273267	Likely benign	Noonan syndrome	RCV000288966	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs2273267
Clinvar_Rec_10826	rs144954789	Conflicting interpretations of pathogenicity	Noonan syndrome;not provided;not specified	RCV000320449;RCV000157673;RCV000154799	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006;MedGen	criteria provided, conflicting interpretations	LD derived	rs142739534
Clinvar_Rec_10827	rs769465872	Uncertain significance	Congenital sensory neuropathy with selective loss of small myelinated fibers	RCV000631360	MedGen;OMIM;Orphanet;SNOMED CT	C0020075;608654;ORPHA64752;128206006	criteria provided, single submitter	tagSNP	rs769465872
Clinvar_Rec_10828	rs886045117	Uncertain significance	Caudal dysgenesis syndrome;Neural tube defect	RCV000337590;RCV000280201	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	tagSNP	rs886045117
Clinvar_Rec_10829	rs886045145	Uncertain significance	Caudal dysgenesis syndrome;Neural tube defect	RCV000338589;RCV000281230	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	tagSNP	rs886045145
Clinvar_Rec_10830	rs184708484	Uncertain significance	Caudal dysgenesis syndrome;Neural tube defect	RCV000262292;RCV000359360	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	tagSNP	rs184708484
Clinvar_Rec_10831	rs376147306	Uncertain significance	Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia	RCV000619631;RCV000639060	MedGen;Orphanet	CN230736;MedGen;ORPHA3286	criteria provided, multiple submitters, no conflicts	tagSNP	rs376147306
Clinvar_Rec_10832	rs143718767	Benign/Likely benign	Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not specified	RCV000619244;RCV000639162;RCV000154688	MedGen;Orphanet	CN230736;MedGen;ORPHA3286;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143718767
Clinvar_Rec_10833	rs1280686043	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia;not specified	RCV000792629;RCV000781194	MedGen;Orphanet	C1631597;ORPHA3286;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1280686043
Clinvar_Rec_10834	rs397507556	Pathogenic/Likely pathogenic	Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 2;not provided	RCV000639080;RCV000033942;RCV000170900	MedGen;Orphanet;OMIM	C1631597;ORPHA3286;MedGen;611938;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397507556
Clinvar_Rec_10835	rs547450635	Uncertain significance	Caudal dysgenesis syndrome;Neural tube defect	RCV000390733;RCV000306806	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C1838569;Human Phenotype Ontology;C3891448;182940;ORPHA3388;253098009	criteria provided, single submitter	LD derived	rs143712039
Clinvar_Rec_10836	rs199919404	Uncertain significance	Congenital adrenal hyperplasia	RCV000332617	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0001627;ORPHA418;237751000	criteria provided, single submitter	tagSNP	rs199919404
Clinvar_Rec_10837	rs886045248	Uncertain significance	Familial atrial fibrillation	RCV000356223	MedGen;Orphanet	C3468561;ORPHA334	criteria provided, single submitter	tagSNP	rs886045248
Clinvar_Rec_10838	rs797045127	Pathogenic	Nager syndrome	RCV000190854	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007	no assertion criteria provided	tagSNP	rs797045127
Clinvar_Rec_10839	rs797045128	Pathogenic	Hereditary hearing loss and deafness;not provided	RCV000515537;RCV000519949	MedGen	C0236038;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797045128
Clinvar_Rec_10840	rs797045128	Pathogenic	Nager syndrome	RCV000190855	MedGen;OMIM;Orphanet;SNOMED CT	C0265245;154400;ORPHA245;35520007	no assertion criteria provided	tagSNP	rs797045128
Clinvar_Rec_10841	rs141682601	Uncertain significance	Severe congenital neutropenia 5, autosomal recessive	RCV000651503	MedGen;OMIM;Orphanet	C3809031;615285;ORPHA369852	criteria provided, single submitter	LD derived	rs144659538
Clinvar_Rec_10842	rs147688134	Uncertain significance	Ectopia lentis	RCV000294076	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs147688134
Clinvar_Rec_10843	rs375564357	Uncertain significance	Ectopia lentis	RCV000330325	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs375564357
Clinvar_Rec_10844	rs370381933	Uncertain significance	Ectopia lentis	RCV000273455	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs370381933
Clinvar_Rec_10845	rs56228576	Likely benign	Ectopia lentis	RCV000362590	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs56228576
Clinvar_Rec_10846	rs1553959	Likely benign	Ectopia lentis	RCV000303806	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs1553959
Clinvar_Rec_10847	rs117403663	Uncertain significance	Ectopia lentis	RCV000358628	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs117403663
Clinvar_Rec_10848	rs114181942	Uncertain significance	Ectopia lentis	RCV000319056	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	tagSNP	rs114181942
Clinvar_Rec_10849	rs114181942	Conflicting interpretations of pathogenicity	Ectopia lentis;not provided	RCV000297524;RCV000967919	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002;MedGen	criteria provided, conflicting interpretations	LD derived	rs115937511
Clinvar_Rec_10850	rs34896634	Benign/Likely benign	Ectopia lentis;not provided	RCV000361615;RCV000969413	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113799188
Clinvar_Rec_10851	rs34896634	Likely benign	Ectopia lentis	RCV000285692	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0013581;ORPHA1885;74969002	criteria provided, single submitter	LD derived	rs111660862
Clinvar_Rec_10852	rs747914097	Uncertain significance	Pyknodysostosis	RCV000664611	MedGen;OMIM;Orphanet;SNOMED CT	C0238402;265800;ORPHA763;89647000	criteria provided, single submitter	tagSNP	rs747914097
Clinvar_Rec_10853	rs773943327	Likely pathogenic	Pyknodysostosis	RCV000409177	MedGen;OMIM;Orphanet;SNOMED CT	C0238402;265800;ORPHA763;89647000	criteria provided, single submitter	tagSNP	rs773943327
Clinvar_Rec_10854	rs1553204817	Likely pathogenic	EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY;Extra oral halitosis	RCV000710010;RCV000664061	MedGen;OMIM;Orphanet	C4748387;618148;ORPHA562538;na	criteria provided, single submitter	tagSNP	rs1553204817
Clinvar_Rec_10855	rs1418634444	association	Autism spectrum disorder	RCV000754526	MedGen;Orphanet	C1510586;ORPHA106	no assertion criteria provided	tagSNP	rs1418634444
Clinvar_Rec_10856	rs145999381	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000716634;RCV000898135	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145999381
Clinvar_Rec_10857	rs553275896	association	Autism spectrum disorder	RCV000754519	MedGen;Orphanet	C1510586;ORPHA106	no assertion criteria provided	LD derived	rs373783340
Clinvar_Rec_10858	rs754578785	Uncertain significance	Severe myoclonic epilepsy in infancy	RCV000638200	MedGen;OMIM;Orphanet;SNOMED CT	C4551549;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs754578785
Clinvar_Rec_10859	rs747301529	Pathogenic	Dermatitis, atopic, 2	RCV000626069	MedGen;OMIM	C1853965;605803	criteria provided, single submitter	tagSNP	rs747301529
Clinvar_Rec_10860	rs886045320	Uncertain significance	Severe congenital neutropenia	RCV000285455	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	tagSNP	rs886045320
Clinvar_Rec_10861	rs527740029	Benign/Likely benign	Seizures;not provided;not specified	RCV000717241;RCV000531578;RCV000186981	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs71651692
Clinvar_Rec_10862	rs112827019	Likely benign	Symmetrical dyschromatosis of extremities	RCV000311423	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs112827019
Clinvar_Rec_10863	rs144500439	Likely benign	Symmetrical dyschromatosis of extremities	RCV000259858	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs144500439
Clinvar_Rec_10864	rs144500439	Likely benign	Symmetrical dyschromatosis of extremities	RCV000382647	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	criteria provided, single submitter	LD derived	rs115205788
Clinvar_Rec_10865	rs551060132	Benign/Likely benign	Seizures;not provided;not specified	RCV000717894;RCV000469276;RCV000124306	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs8192486
Clinvar_Rec_10866	rs986264460	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities	RCV000650236;RCV000650236	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs986264460
Clinvar_Rec_10867	rs121912422	Pathogenic	Symmetrical dyschromatosis of extremities	RCV000015942	MedGen;OMIM;Orphanet;SNOMED CT	C0406775;127400;ORPHA41;239085000	no assertion criteria provided	tagSNP	rs121912422
Clinvar_Rec_10868	rs398122898	Pathogenic	Aicardi-Goutieres syndrome 6	RCV000032658	MedGen;OMIM	C3539013;615010	no assertion criteria provided	tagSNP	rs398122898
Clinvar_Rec_10869	rs1557886901	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities	RCV000691194;RCV000691194	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000	criteria provided, single submitter	tagSNP	rs1557886901
Clinvar_Rec_10870	rs886045345	Uncertain significance	Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities;Symmetrical dyschromatosis of extremities;not provided	RCV001057285;RCV000404889;RCV001057285;RCV000994114	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C3539013;615010;MedGen;127400;ORPHA41;239085000;MedGen;127400;ORPHA41;239085000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886045345
Clinvar_Rec_10871	rs141571402	Uncertain significance	Pyruvate kinase deficiency of red cells	RCV000369340	MedGen;OMIM;Orphanet	C0340968;266200;ORPHA766	criteria provided, single submitter	tagSNP	rs141571402
Clinvar_Rec_10872	rs869025191	Pathogenic/Likely pathogenic	Noonan syndrome;Noonan syndrome 1;Noonan syndrome 8;not provided	RCV000207340;RCV000856755;RCV000578238;RCV000282691	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;OMIM	D009634;C0028326;ORPHA648;205824006;MedGen;163950;MedGen;615355;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025191
Clinvar_Rec_10873	rs869025191	Pathogenic/Likely pathogenic	Noonan syndrome;Noonan syndrome 8	RCV000218943;RCV000467706	MeSH;MedGen;Orphanet;SNOMED CT;OMIM	D009634;C0028326;ORPHA648;205824006;MedGen;615355	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025191
Clinvar_Rec_10874	rs1060502217	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000463883	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1060502217
Clinvar_Rec_10875	rs58912633	Pathogenic	Congenital muscular dystrophy, LMNA-related;not provided	RCV000015604;RCV000057405	MedGen;OMIM;Orphanet	C2750785;613205;ORPHA157973;MedGen	no assertion criteria provided	tagSNP	rs58912633
Clinvar_Rec_10876	rs12117552	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Dilated Cardiomyopathy, Dominant;Emery-Dreifuss muscular dystrophy;Familial partial lipodystrophy;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Limb-Girdle Muscular Dystrophy, Recessive;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Mandibuloacral dysplasia;not provided;not specified	RCV000768713;RCV000253205;RCV000226227;RCV000379768;RCV000390872;RCV000403709;RCV000346784;RCV000285363;RCV000344918;RCV000371234;RCV000311894;RCV000291863;RCV000057430;RCV000041356	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA64746;MedGen;613205;ORPHA157973;MedGen;ORPHA261;111508004;MedGen;ORPHA98306;49292002;MedGen;176670;ORPHA740;238870004;MedGen;275210;ORPHA1662;400128006;MedGen;ORPHA2457;109419009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12117552
Clinvar_Rec_10877	rs56851164	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;Dilated cardiomyopathy 1A;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000621488;RCV000544253;RCV000755678;RCV000208012;RCV000057494;RCV000212504	MedGen;Orphanet;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;ORPHA64746;MedGen;115200;ORPHA300751;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs56851164
Clinvar_Rec_10878	rs770389147	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000653961	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs770389147
Clinvar_Rec_10879	rs770389147	Likely benign	Cardiovascular phenotype	RCV000247083	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs770389147
Clinvar_Rec_10880	rs117939448	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000702617	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs117939448
Clinvar_Rec_10881	rs117939448	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000619457;RCV000473263;RCV000041337	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117939448
Clinvar_Rec_10882	rs759330	association	Calcium oxalate urolithiasis	RCV000128582	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C1833683;167030;444717006	no assertion criteria provided	tagSNP	rs759330
Clinvar_Rec_10883	rs370483210	Pathogenic	Hereditary insensitivity to pain with anhidrosis	RCV000691155	MedGen;OMIM;Orphanet;SNOMED CT	C0020074;256800;ORPHA642;62985007	criteria provided, single submitter	tagSNP	rs370483210
Clinvar_Rec_10884	rs754611476	Uncertain significance	Hereditary insensitivity to pain with anhidrosis	RCV000687922	MedGen;OMIM;Orphanet;SNOMED CT	C0020074;256800;ORPHA642;62985007	criteria provided, single submitter	tagSNP	rs754611476
Clinvar_Rec_10885	rs1347421266	Uncertain significance	Familial medullary thyroid carcinoma;Hereditary insensitivity to pain with anhidrosis	RCV000708815;RCV000986441	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1833921;155240;ORPHA99361;MedGen;256800;ORPHA642;62985007	criteria provided, single submitter	tagSNP	rs1347421266
Clinvar_Rec_10886	rs200575096	Conflicting interpretations of pathogenicity	Hereditary insensitivity to pain with anhidrosis;not provided;not specified	RCV000391150;RCV000875868;RCV000608164	MedGen;OMIM;Orphanet;SNOMED CT	C0020074;256800;ORPHA642;62985007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200575096
Clinvar_Rec_10887	rs200575096	Uncertain significance	Hereditary insensitivity to pain with anhidrosis	RCV000631338	MedGen;OMIM;Orphanet;SNOMED CT	C0020074;256800;ORPHA642;62985007	criteria provided, single submitter	tagSNP	rs200575096
Clinvar_Rec_10888	rs556837897	Conflicting interpretations of pathogenicity	Familial medullary thyroid carcinoma;not provided	RCV000708816;RCV000555707	MedGen;OMIM;Orphanet	C1833921;155240;ORPHA99361;MedGen	criteria provided, conflicting interpretations	LD derived	rs199646180
Clinvar_Rec_10889	rs756418963	Uncertain significance	Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive	RCV000296971;RCV000354054;RCV000398897	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, single submitter	tagSNP	rs756418963
Clinvar_Rec_10890	rs3737515	Benign/Likely benign	Elliptocytosis;Hemolytic anemia;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified	RCV000304497;RCV001003794;RCV000361633;RCV000395775;RCV000247499	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0002878;ORPHA98363;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3737515
Clinvar_Rec_10891	rs3737515	Likely benign	Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive	RCV000335063;RCV000279970;RCV000402302	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, single submitter	LD derived	rs3768535
Clinvar_Rec_10892	rs3737515	Conflicting interpretations of pathogenicity	Elliptocytosis;Hemolytic anemia;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified	RCV000388225;RCV001003793;RCV000344309;RCV000296410;RCV000249337	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0002878;ORPHA98363;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, conflicting interpretations	LD derived	rs28525570
Clinvar_Rec_10893	rs41273523	Benign/Likely benign	Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified	RCV000358604;RCV000397152;RCV000303619;RCV000251009	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41273523
Clinvar_Rec_10894	rs34446973	Benign/Likely benign	Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not provided;not specified	RCV000375177;RCV000263566;RCV000321040;RCV000973287;RCV001001782	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34446973
Clinvar_Rec_10895	rs755259437	Uncertain significance	Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive	RCV000270889;RCV000363208;RCV000306195	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0427480;Human Phenotype Ontology;C0520739;266140;ORPHA98867;9434008;MedGen	criteria provided, single submitter	tagSNP	rs755259437
Clinvar_Rec_10896	rs886045396	Uncertain significance	Nonsyndromic Hearing Loss, Mixed;Pendred syndrome;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome	RCV000322033;RCV000376675;RCV000267157	MedGen;OMIM;Orphanet;SNOMED CT	CN239440;MedGen;274600;ORPHA705;70348004;MedGen	criteria provided, single submitter	tagSNP	rs886045396
Clinvar_Rec_10897	rs886045405	Uncertain significance	Nonsyndromic Hearing Loss, Mixed;Pendred syndrome;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome	RCV000334687;RCV000281880;RCV000372935	MedGen;OMIM;Orphanet;SNOMED CT	CN239440;MedGen;274600;ORPHA705;70348004;MedGen	criteria provided, single submitter	tagSNP	rs886045405
Clinvar_Rec_10898	rs138511291	Uncertain significance	Nonsyndromic Hearing Loss, Mixed;Pendred syndrome;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome	RCV000392736;RCV000349022;RCV000296382	MedGen;OMIM;Orphanet;SNOMED CT	CN239440;MedGen;274600;ORPHA705;70348004;MedGen	criteria provided, single submitter	tagSNP	rs138511291
Clinvar_Rec_10899	rs778432509	Uncertain significance	Nonsyndromic Hearing Loss, Mixed;Pendred syndrome;Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome	RCV000354785;RCV000329935;RCV000276519	MedGen;OMIM;Orphanet;SNOMED CT	CN239440;MedGen;274600;ORPHA705;70348004;MedGen	criteria provided, single submitter	tagSNP	rs778432509
Clinvar_Rec_10900	rs533587041	Likely benign	History of neurodevelopmental disorder	RCV000720264	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs533587041
Clinvar_Rec_10901	rs781474239	Uncertain significance	Familial hemiplegic migraine;not provided	RCV001070240;RCV000423022	MedGen;Orphanet;SNOMED CT	C0338484;ORPHA569;95656000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs781474239
Clinvar_Rec_10902	rs775031080	Uncertain significance	Familial hemiplegic migraine	RCV000703545	MedGen;Orphanet;SNOMED CT	C0338484;ORPHA569;95656000	criteria provided, single submitter	tagSNP	rs775031080
Clinvar_Rec_10903	rs763782107	Likely benign	Familial hemiplegic migraine	RCV000720481	MedGen;Orphanet;SNOMED CT	C0338484;ORPHA569;95656000	criteria provided, single submitter	tagSNP	rs763782107
Clinvar_Rec_10904	rs1184210055	Uncertain significance	Familial hemiplegic migraine	RCV000717325	MedGen;Orphanet;SNOMED CT	C0338484;ORPHA569;95656000	criteria provided, single submitter	tagSNP	rs1184210055
Clinvar_Rec_10905	rs1553245907	Uncertain significance	Alternating hemiplegia of childhood 1;Familial hemiplegic migraine type 2;not provided	RCV000763751;RCV000763751;RCV000517877	MedGen;OMIM;OMIM	C3549447;104290;MedGen;602481;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553245907
Clinvar_Rec_10906	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000380702;RCV000288702	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	tagSNP	rs56199408
Clinvar_Rec_10907	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000364689;RCV000308311	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs2070702
Clinvar_Rec_10908	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000349728;RCV000400008	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs62620182
Clinvar_Rec_10909	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000296210;RCV000344034	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs2070703
Clinvar_Rec_10910	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000386618;RCV000329857	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs2070704
Clinvar_Rec_10911	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000264544;RCV000366099	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs1046995
Clinvar_Rec_10912	rs56199408	Likely benign	Alternating hemiplegia of childhood;Familial hemiplegic migraine	RCV000267377;RCV000361878	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0338488;ORPHA2131;230466004;MedGen;ORPHA569;95656000	criteria provided, single submitter	LD derived	rs3747625
Clinvar_Rec_10913	rs11550119	Uncertain significance	Peroxisome biogenesis disorder 12A;not provided	RCV001064828;RCV000591811	MedGen;OMIM	C3554002;614886;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11550119
Clinvar_Rec_10914	rs574917956	Likely benign	Autoimmune interstitial lung, joint, and kidney disease	RCV000653109	MedGen;OMIM;Orphanet	C4225334;616414;ORPHA444092	criteria provided, single submitter	LD derived	rs139398871
Clinvar_Rec_10915	rs41269993	risk factor	Hyperlipidemia, familial combined, susceptibility to	RCV000013088	MedGen	C4016424	no assertion criteria provided	LD derived	rs3737787
Clinvar_Rec_10916	rs41269993	risk factor	Hyperlipidemia, familial combined, susceptibility to	RCV000013089	MedGen	C4016424	no assertion criteria provided	LD derived	rs2073658
Clinvar_Rec_10917	rs267606992	Pathogenic	Ectodermal dysplasia-syndactyly syndrome 1	RCV000001668	MedGen;OMIM;Orphanet	C3150807;613573;ORPHA247820	no assertion criteria provided	tagSNP	rs267606992
Clinvar_Rec_10918	rs115158839	Uncertain significance	Variegate porphyria	RCV000350391	MedGen;OMIM;Orphanet;SNOMED CT	C0162532;176200;ORPHA79473;58275005	criteria provided, single submitter	tagSNP	rs115158839
Clinvar_Rec_10919	rs186428034	Uncertain significance	Variegate porphyria	RCV000390367	MedGen;OMIM;Orphanet;SNOMED CT	C0162532;176200;ORPHA79473;58275005	criteria provided, single submitter	tagSNP	rs186428034
Clinvar_Rec_10920	rs886045454	Uncertain significance	Variegate porphyria	RCV000271176	MedGen;OMIM;Orphanet;SNOMED CT	C0162532;176200;ORPHA79473;58275005	criteria provided, single submitter	tagSNP	rs886045454
Clinvar_Rec_10921	rs886045473	Uncertain significance	Charcot-Marie-Tooth disease, type I;Charcot-Marie-Tooth, Intermediate;Congenital hypomyelinating neuropathy 1, autosomal recessive;Roussy-Lévy syndrome	RCV000274388;RCV000270444;RCV000332583;RCV000362754	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009;MedGen;605253;ORPHA99951;MedGen;180800;ORPHA3115;45853006	criteria provided, single submitter	tagSNP	rs886045473
Clinvar_Rec_10922	rs150182811	Likely benign	Charcot-Marie-Tooth disease, type I;Charcot-Marie-Tooth, Intermediate;Congenital hypomyelinating neuropathy 1, autosomal recessive;Roussy-Lévy syndrome	RCV000300540;RCV000354081;RCV000313368;RCV000395380	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009;MedGen;605253;ORPHA99951;MedGen;180800;ORPHA3115;45853006	criteria provided, single submitter	tagSNP	rs150182811
Clinvar_Rec_10923	rs16865495	Benign	Pheochromocytoma	RCV000394895	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs16865495
Clinvar_Rec_10924	rs115166758	Likely benign	Pheochromocytoma	RCV000339061	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs115166758
Clinvar_Rec_10925	rs575352068	Conflicting interpretations of pathogenicity	Mitochondrial complex I deficiency;not provided	RCV000778944;RCV000198967	MedGen	C2936907;MedGen	criteria provided, conflicting interpretations	LD derived	rs150667550
Clinvar_Rec_10926	rs532043545	Benign/Likely benign	Paragangliomas 3;not provided	RCV000663273;RCV000473017	MedGen;OMIM	C1854336;605373;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs532455044
Clinvar_Rec_10927	rs1558083144	Uncertain significance	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	RCV000714576	MedGen;OMIM;Orphanet	C1849011;271665;ORPHA93358	criteria provided, single submitter	tagSNP	rs1558083144
Clinvar_Rec_10928	rs113087202	Benign/Likely benign	Inborn genetic diseases;not provided	RCV001024275;RCV000464304	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113087202
Clinvar_Rec_10929	rs765613993	Uncertain significance	Hereditary pancreatitis;Inborn genetic diseases	RCV000659491;RCV001024417	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0238339;167800;ORPHA676;68072000;MeSH;C0950123	criteria provided, multiple submitters, no conflicts	tagSNP	rs765613993
Clinvar_Rec_10930	rs749682801	Uncertain significance	Dilated Cardiomyopathy, Recessive	RCV000655461	MedGen	CN239222	criteria provided, single submitter	tagSNP	rs749682801
Clinvar_Rec_10931	rs1048334	Benign	Bartter syndrome, type 4b;not provided	RCV000986249;RCV000711245	MedGen;OMIM	C4310805;613090;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10927887
Clinvar_Rec_10932	rs112285834	Benign/Likely benign	Age-related cortical cataract;not specified	RCV000272978;RCV000249522	Human Phenotype Ontology;MedGen	HP;C2880562;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112285834
Clinvar_Rec_10933	rs185521359	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000717577;RCV000873633	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs115985012
Clinvar_Rec_10934	rs777302964	Likely benign	History of neurodevelopmental disorder	RCV000716216	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs777302964
Clinvar_Rec_10935	rs56367069	Benign	History of neurodevelopmental disorder;Spastic paraplegia 78, autosomal recessive;not provided;not specified	RCV000715715;RCV000555414;RCV000675905;RCV000116445	MedGen;OMIM;Orphanet	C2711754;MedGen;617225;ORPHA513436;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56367069
Clinvar_Rec_10936	rs772414750	Uncertain significance	Spastic paraplegia 78, autosomal recessive	RCV000687505	MedGen;OMIM;Orphanet	C4310662;617225;ORPHA513436	criteria provided, single submitter	tagSNP	rs772414750
Clinvar_Rec_10937	rs1553177267	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000531863;RCV000531863;RCV000531863	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553177267
Clinvar_Rec_10938	rs948484408	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000457579;RCV000457579;RCV000457579	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs948484408
Clinvar_Rec_10939	rs200896502	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV000543096;RCV000575911;RCV000543096;RCV000543096	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs200896502
Clinvar_Rec_10940	rs186768244	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Paragangliomas 4;Pheochromocytoma	RCV000465994;RCV000571866;RCV000412414;RCV000465994;RCV000465994	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, conflicting interpretations	tagSNP	rs186768244
Clinvar_Rec_10941	rs148871409	Benign/Likely benign	Parkinson Disease, Recessive;Parkinson disease 6, autosomal recessive early-onset	RCV000369473;RCV000576611	MedGen;OMIM	CN239372;MedGen;605909	criteria provided, multiple submitters, no conflicts	tagSNP	rs148871409
Clinvar_Rec_10942	rs45604240	Conflicting interpretations of pathogenicity	Parkinson disease 6, autosomal recessive early-onset;not provided;not specified	RCV001037688;RCV000725899;RCV000287239	MedGen;OMIM	C1853833;605909;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45604240
Clinvar_Rec_10943	rs200755803	Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000388055;RCV000316648	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs16824318
Clinvar_Rec_10944	rs200755803	Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive	RCV000334597;RCV000382106	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, single submitter	LD derived	rs143763511
Clinvar_Rec_10945	rs200755803	Benign/Likely benign	Congenital disorder of glycosylation;Parkinson Disease, Recessive;not specified	RCV000380267;RCV000310528;RCV000424368	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6692016
Clinvar_Rec_10946	rs763159520	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Infantile hypophosphatasia;not provided	RCV000623730;RCV000674297;RCV001046115	MeSH;MedGen;MedGen;OMIM;Orphanet;SNOMED CT	D030342;C0950123;Human Phenotype Ontology;C0268412;241500;ORPHA247651;55236002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs763159520
Clinvar_Rec_10947	rs121918020	Pathogenic	Childhood hypophosphatasia;Infantile hypophosphatasia;not provided	RCV000169779;RCV000014679;RCV000817506	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0220743;241510;ORPHA247667;30174008;Human Phenotype Ontology;C0268412;241500;ORPHA247651;55236002;MedGen	criteria provided, single submitter	tagSNP	rs121918020
Clinvar_Rec_10948	rs121918006	Pathogenic	Infantile hypophosphatasia	RCV000014656	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0268412;241500;ORPHA247651;55236002	no assertion criteria provided	tagSNP	rs121918006
Clinvar_Rec_10949	rs117182812	Benign/Likely benign	Dyssegmental Dysplasia;not provided;not specified	RCV000392534;RCV000894097;RCV001001482	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs117182812
Clinvar_Rec_10950	rs11552570	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000392517;RCV000757376	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11552570
Clinvar_Rec_10951	rs11552570	Likely benign	Dyssegmental Dysplasia	RCV000377761	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs1049675
Clinvar_Rec_10952	rs11552570	Benign/Likely benign	Dyssegmental Dysplasia;not provided	RCV000265105;RCV000992120	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112494360
Clinvar_Rec_10953	rs11552570	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000262561;RCV000506205	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2229489
Clinvar_Rec_10954	rs11552570	Likely benign	Dyssegmental Dysplasia	RCV000398821	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs35669711
Clinvar_Rec_10955	rs11552570	Likely benign	Dyssegmental Dysplasia	RCV000318160	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs34443576
Clinvar_Rec_10956	rs11552570	Benign/Likely benign	Dyssegmental Dysplasia;not specified	RCV000294008;RCV000289771	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12742444
Clinvar_Rec_10957	rs11552570	Likely benign	Dyssegmental Dysplasia	RCV000339647	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	LD derived	rs2229475
Clinvar_Rec_10958	rs140573963	Uncertain significance	Dyssegmental Dysplasia;not provided	RCV000283730;RCV000711949	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140573963
Clinvar_Rec_10959	rs2290499	Conflicting interpretations of pathogenicity	Dyssegmental Dysplasia;not provided	RCV000376476;RCV000711939	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2290499
Clinvar_Rec_10960	rs765181959	Uncertain significance	Dyssegmental Dysplasia	RCV000401811	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	tagSNP	rs765181959
Clinvar_Rec_10961	rs552716935	Conflicting interpretations of pathogenicity	Dyssegmental Dysplasia;not specified	RCV000389838;RCV000517794	MedGen;Orphanet	C1857100;ORPHA1865;MedGen	criteria provided, conflicting interpretations	tagSNP	rs552716935
Clinvar_Rec_10962	rs758311848	Uncertain significance	Dyssegmental Dysplasia	RCV000350362	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	tagSNP	rs758311848
Clinvar_Rec_10963	rs776853465	Uncertain significance	Dyssegmental Dysplasia	RCV000273009	MedGen;Orphanet	C1857100;ORPHA1865	criteria provided, single submitter	tagSNP	rs776853465
Clinvar_Rec_10964	rs752137615	Pathogenic/Likely pathogenic	Deficiency of hydroxymethylglutaryl-CoA lyase;not provided	RCV000012732;RCV000185970	MedGen;OMIM;Orphanet;SNOMED CT	C0268601;246450;ORPHA20;124611007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752137615
Clinvar_Rec_10965	rs781585299	Pathogenic	Familial hypercholesterolemia 4	RCV000005047	MedGen;OMIM	C1863512;603813	criteria provided, single submitter	tagSNP	rs781585299
Clinvar_Rec_10966	rs1557814336	Uncertain significance	Eichsfeld type congenital muscular dystrophy	RCV000693482	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002	criteria provided, single submitter	tagSNP	rs1557814336
Clinvar_Rec_10967	rs121908185	Pathogenic/Likely pathogenic	Eichsfeld type congenital muscular dystrophy;SEPN1-Related Disorders;not provided	RCV000004749;RCV000778977;RCV000413832	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908185
Clinvar_Rec_10968	rs756927098	Likely pathogenic	Eichsfeld type congenital muscular dystrophy	RCV000692095	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002	criteria provided, single submitter	tagSNP	rs756927098
Clinvar_Rec_10969	rs368377980	Conflicting interpretations of pathogenicity	Eichsfeld type congenital muscular dystrophy;not provided	RCV000811605;RCV000497945	MedGen;OMIM;Orphanet;SNOMED CT	C0410180;602771;ORPHA97244;240063002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368377980
Clinvar_Rec_10970	rs1057515542	Uncertain significance	SEPN1-Related Disorders	RCV000330616	MedGen	CN239420	criteria provided, single submitter	tagSNP	rs1057515542
Clinvar_Rec_10971	rs1557447255	Likely pathogenic	Retinitis pigmentosa 59	RCV000691673	MedGen;OMIM	C3151227;613861	criteria provided, single submitter	tagSNP	rs1557447255
Clinvar_Rec_10972	rs1553153748	other	Hepatoblastoma	RCV000505631	Human Phenotype Ontology;MedGen;Orphanet	HP;C0206624;ORPHA449	no assertion criteria provided	tagSNP	rs1553153748
Clinvar_Rec_10973	rs121908986	Affects	ALDH9A1*2 POLYMORPHISM	RCV000007260	-	-	no assertion criteria provided	tagSNP	rs121908986
Clinvar_Rec_10974	rs193922739	Pathogenic	Immunodeficiency due to defect in cd3-zeta	RCV000013587	MedGen;OMIM	C1857798;610163	no assertion criteria provided	tagSNP	rs193922739
Clinvar_Rec_10975	rs746701386	Likely benign	Immunodeficiency due to defect in cd3-zeta	RCV000642349	MedGen;OMIM	C1857798;610163	criteria provided, single submitter	tagSNP	rs746701386
Clinvar_Rec_10976	rs6030	Conflicting interpretations of pathogenicity	Thrombophilia due to activated protein C resistance;not provided;not specified	RCV000398818;RCV000994166;RCV000252958	MedGen;OMIM	C1861171;188055;MedGen	criteria provided, conflicting interpretations	tagSNP	rs6030
Clinvar_Rec_10977	rs6030	Benign/Likely benign	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not specified	RCV000283261;RCV000323061;RCV000375483;RCV000278720;RCV000247175	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1800594
Clinvar_Rec_10978	rs6010	Likely benign	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis	RCV000281808;RCV000385446;RCV000331051;RCV000400931	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004	criteria provided, single submitter	tagSNP	rs6010
Clinvar_Rec_10979	rs6010	Likely benign	Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis	RCV000383378;RCV000321753;RCV000291441;RCV000343710	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;MedGen;OMIM;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007;MedGen;227400;ORPHA326;4320005;MedGen;188055;Human Phenotype Ontology;C3160733;188050;234467004	criteria provided, single submitter	LD derived	rs9332608
Clinvar_Rec_10980	rs72549334	Likely pathogenic	Trimethylaminuria	RCV000017702	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0342739;602079;237959005	criteria provided, single submitter	tagSNP	rs72549334
Clinvar_Rec_10981	rs566945077	Uncertain significance	Antithrombin III deficiency;not provided	RCV000336934;RCV000994197	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0272375;613118;ORPHA82;36351005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs565091601
Clinvar_Rec_10982	rs758087836	Uncertain significance	Antithrombin III deficiency	RCV000471250	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0272375;613118;ORPHA82;36351005	criteria provided, single submitter	tagSNP	rs758087836
Clinvar_Rec_10983	rs2227627	Conflicting interpretations of pathogenicity	Antithrombin III deficiency;not provided	RCV000205967;RCV000857462	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0272375;613118;ORPHA82;36351005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs2227627
Clinvar_Rec_10984	rs483352851	not provided	Tuberous sclerosis 2	RCV000087286	MedGen;OMIM	C1860707;613254	no assertion provided	tagSNP	rs483352851
Clinvar_Rec_10985	rs121909563	Conflicting interpretations of pathogenicity	Antithrombin III deficiency;Antithrombin deficiency	RCV000019646;RCV000148886	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0272375;613118;ORPHA82;36351005;MedGen	no assertion criteria provided	tagSNP	rs121909563
Clinvar_Rec_10986	rs28929469	Likely pathogenic	Antithrombin III deficiency;not provided	RCV000019638;RCV000420779	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0272375;613118;ORPHA82;36351005;MedGen	criteria provided, single submitter	tagSNP	rs28929469
Clinvar_Rec_10987	rs483352844	not provided	Tuberous sclerosis 2	RCV000087279	MedGen;OMIM	C1860707;613254	no assertion provided	tagSNP	rs483352844
Clinvar_Rec_10988	rs1398961188	Uncertain significance	Nephrotic syndrome, idiopathic, steroid-resistant	RCV000666940	MedGen;OMIM	CN034406;600995	criteria provided, single submitter	tagSNP	rs1398961188
Clinvar_Rec_10989	rs138636848	Likely benign	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000273048	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs138636848
Clinvar_Rec_10990	rs886045617	Uncertain significance	Congenital brain dysgenesis due to glutamine synthetase deficiency	RCV000391593	MedGen;OMIM;Orphanet	C1864910;610015;ORPHA71278	criteria provided, single submitter	tagSNP	rs886045617
Clinvar_Rec_10991	rs1057516935	Likely pathogenic	Junctional epidermolysis bullosa gravis of Herlitz	RCV000411025	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, single submitter	tagSNP	rs1057516935
Clinvar_Rec_10992	rs796065031	Pathogenic	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	RCV000002330	MedGen;OMIM	C1856245;233710	no assertion criteria provided	tagSNP	rs796065031
Clinvar_Rec_10993	rs17849502	Benign/Likely benign	Chronic granulomatous disease;Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not specified	RCV000306202;RCV000539056;RCV000253292	MedGen;Orphanet;OMIM	C0018203;ORPHA379;MedGen;233710;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17849502
Clinvar_Rec_10994	rs17849502	Benign/Likely benign	Chronic granulomatous disease;Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not specified	RCV000274236;RCV000529432;RCV000178768	MedGen;Orphanet;OMIM	C0018203;ORPHA379;MedGen;233710;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs17849501
Clinvar_Rec_10995	rs137854509	not provided	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	RCV000059364	MedGen;OMIM	C1856245;233710	no assertion provided	tagSNP	rs137854509
Clinvar_Rec_10996	rs796065033	Pathogenic/Likely pathogenic	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not provided	RCV000002333;RCV000494542	MedGen;OMIM	C1856245;233710;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796065033
Clinvar_Rec_10997	rs758057222	Uncertain significance	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	RCV000642278	MedGen;OMIM	C1856245;233710	criteria provided, single submitter	tagSNP	rs758057222
Clinvar_Rec_10998	rs1290169467	Pathogenic	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	RCV000695278	MedGen;OMIM	C1856245;233710	criteria provided, single submitter	tagSNP	rs1290169467
Clinvar_Rec_10999	rs749265997	Uncertain significance	Macular degeneration	RCV000336421	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0024437;422338006	criteria provided, single submitter	tagSNP	rs749265997
Clinvar_Rec_11000	rs146867591	Uncertain significance	Macular degeneration	RCV000388562	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0024437;422338006	criteria provided, single submitter	tagSNP	rs146867591
Clinvar_Rec_11001	rs144596551	Conflicting interpretations of pathogenicity	Primary autosomal recessive microcephaly 5;not provided;not specified	RCV000145162;RCV000991552;RCV000175343	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, conflicting interpretations	LD derived	rs150327858
Clinvar_Rec_11002	rs140633945	Benign/Likely benign	Atypical hemolytic uremic syndrome;Basal laminar drusen;Macular degeneration;Mesangiocapillary glomerulonephritis, type II;not provided	RCV000283124;RCV000342789;RCV000377609;RCV000391977;RCV000907311	MedGen;Orphanet;OMIM;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C2931788;ORPHA2134;MedGen;126700;312926005;Human Phenotype Ontology;C0024437;422338006;MedGen;ORPHA93571;59479006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56035657
Clinvar_Rec_11003	rs140633945	Likely benign	Atypical hemolytic uremic syndrome;Basal laminar drusen;Macular degeneration;Mesangiocapillary glomerulonephritis, type II	RCV000299048;RCV000352680;RCV000405951;RCV000293012	MedGen;Orphanet;OMIM;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C2931788;ORPHA2134;MedGen;126700;312926005;Human Phenotype Ontology;C0024437;422338006;MedGen;ORPHA93571;59479006	criteria provided, single submitter	LD derived	rs55807605
Clinvar_Rec_11004	rs140633945	Benign/Likely benign	Atypical hemolytic uremic syndrome;Basal laminar drusen;Macular degeneration;Mesangiocapillary glomerulonephritis, type II;not provided	RCV000272015;RCV000325774;RCV000331481;RCV000385113;RCV000907312	MedGen;Orphanet;OMIM;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C2931788;ORPHA2134;MedGen;126700;312926005;Human Phenotype Ontology;C0024437;422338006;MedGen;ORPHA93571;59479006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55752475
Clinvar_Rec_11005	rs140633945	Uncertain significance	Mesangiocapillary glomerulonephritis, type II	RCV000329075	MedGen;Orphanet;SNOMED CT	C0268743;ORPHA93571;59479006	criteria provided, single submitter	LD derived	rs117389812
Clinvar_Rec_11006	rs199422198	Pathogenic	Primary autosomal recessive microcephaly 5	RCV000020829	MedGen;OMIM	C1837501;608716	no assertion criteria provided	tagSNP	rs199422198
Clinvar_Rec_11007	rs7528827	Benign/Likely benign	Primary autosomal recessive microcephaly 5;not provided;not specified	RCV000020828;RCV000514910;RCV000145240	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7528827
Clinvar_Rec_11008	rs199422197	Pathogenic	Primary autosomal recessive microcephaly 5	RCV000020827	MedGen;OMIM	C1837501;608716	no assertion criteria provided	tagSNP	rs199422197
Clinvar_Rec_11009	rs199422196	Pathogenic	Primary autosomal recessive microcephaly 5	RCV000020826	MedGen;OMIM	C1837501;608716	no assertion criteria provided	tagSNP	rs199422196
Clinvar_Rec_11010	rs587783259	Pathogenic	Primary autosomal recessive microcephaly 5	RCV000145172	MedGen;OMIM	C1837501;608716	criteria provided, single submitter	tagSNP	rs587783259
Clinvar_Rec_11011	rs199422147	Pathogenic	Primary autosomal recessive microcephaly 5;not provided	RCV000020750;RCV000215743	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199422147
Clinvar_Rec_11012	rs199422137	Pathogenic	Primary autosomal recessive microcephaly 5;not provided	RCV000235002;RCV000219412	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199422137
Clinvar_Rec_11013	rs587783215	Pathogenic	Primary autosomal recessive microcephaly 5;not provided	RCV000145078;RCV000171162	MedGen;OMIM	C1837501;608716;MedGen	criteria provided, single submitter	tagSNP	rs587783215
Clinvar_Rec_11014	rs1355198242	Likely pathogenic	Leber congenital amaurosis 8	RCV000625947	MedGen;OMIM	C3151202;613835	criteria provided, single submitter	tagSNP	rs1355198242
Clinvar_Rec_11015	rs62636270	Likely pathogenic	Leber congenital amaurosis 8;not provided	RCV001004993;RCV000086322	MedGen;OMIM	C3151202;613835;MedGen	criteria provided, single submitter	tagSNP	rs62636270
Clinvar_Rec_11016	rs776591659	Pathogenic	Leber congenital amaurosis 8;Retinitis pigmentosa 12	RCV000684930;RCV000684930	MedGen;OMIM;OMIM	C3151202;613835;MedGen;600105	criteria provided, single submitter	tagSNP	rs776591659
Clinvar_Rec_11017	rs41269905	Benign	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified	RCV000555361;RCV000127661	MedGen;OMIM;Orphanet;Orphanet	C1837028;608971;ORPHA169154;ORPHA169157;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41269905
Clinvar_Rec_11018	rs200062688	Uncertain significance	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	RCV000343116;RCV000278687	MedGen;Orphanet;Orphanet	C0238358;ORPHA681;MedGen;ORPHA423	criteria provided, single submitter	LD derived	rs200654730
Clinvar_Rec_11019	rs1007920084	Uncertain significance	Hypokalemic periodic paralysis 1	RCV000651219	MedGen;OMIM	C3714580;170400	criteria provided, single submitter	tagSNP	rs1007920084
Clinvar_Rec_11020	rs780390034	Uncertain significance	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	RCV000337244;RCV000398039	MedGen;Orphanet;Orphanet	C0238358;ORPHA681;MedGen;ORPHA423	criteria provided, single submitter	tagSNP	rs780390034
Clinvar_Rec_11021	rs777328046	Uncertain significance	Hypokalemic periodic paralysis 1	RCV000707737	MedGen;OMIM	C3714580;170400	criteria provided, single submitter	tagSNP	rs777328046
Clinvar_Rec_11022	rs766639108	Uncertain significance	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	RCV000367117;RCV000312513	MedGen;Orphanet;Orphanet	C0238358;ORPHA681;MedGen;ORPHA423	criteria provided, single submitter	tagSNP	rs766639108
Clinvar_Rec_11023	rs762032797	Uncertain significance	Hypokalemic periodic paralysis 1	RCV000538822	MedGen;OMIM	C3714580;170400	criteria provided, single submitter	tagSNP	rs762032797
Clinvar_Rec_11024	rs138541733	Uncertain significance	Hypokalemic periodic paralysis 1	RCV000699806	MedGen;OMIM	C3714580;170400	criteria provided, single submitter	tagSNP	rs138541733
Clinvar_Rec_11025	rs138541733	Uncertain significance	Hypokalemic periodic paralysis 1	RCV000692628	MedGen;OMIM	C3714580;170400	criteria provided, single submitter	tagSNP	rs138541733
Clinvar_Rec_11026	rs377459546	Uncertain significance	Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility	RCV000299085;RCV000689050;RCV000360784	MedGen;Orphanet;OMIM;Orphanet	C0238358;ORPHA681;MedGen;170400;MedGen;ORPHA423	criteria provided, multiple submitters, no conflicts	tagSNP	rs377459546
Clinvar_Rec_11027	rs145803564	Likely benign	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	RCV000298767;RCV000353721	MedGen;Orphanet;Orphanet	C0238358;ORPHA681;MedGen;ORPHA423	criteria provided, single submitter	tagSNP	rs145803564
Clinvar_Rec_11028	rs145803564	Likely benign	Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility	RCV000263609;RCV000321709	MedGen;Orphanet;Orphanet	C0238358;ORPHA681;MedGen;ORPHA423	criteria provided, single submitter	LD derived	rs140748567
Clinvar_Rec_11029	rs536458815	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000273008	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs536458815
Clinvar_Rec_11030	rs886045808	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000387306	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs886045808
Clinvar_Rec_11031	rs370631788	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000312725	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs370631788
Clinvar_Rec_11032	rs886045819	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000268091	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs886045819
Clinvar_Rec_11033	rs886045821	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000365519	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs886045821
Clinvar_Rec_11034	rs563345525	Uncertain significance	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000274600	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs563345525
Clinvar_Rec_11035	rs1046970	Benign	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000374037	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	tagSNP	rs1046970
Clinvar_Rec_11036	rs1046970	Benign	Epidermolysis bullosa simplex due to plakophilin deficiency	RCV000317113	MedGen;OMIM;Orphanet	C1858302;604536;ORPHA158668	criteria provided, single submitter	LD derived	rs1046962
Clinvar_Rec_11037	rs483352834	Uncertain significance	Dilated cardiomyopathy 1DD	RCV000119343	MedGen;OMIM	C2750995;613172	no assertion criteria provided	tagSNP	rs483352834
Clinvar_Rec_11038	rs5780083	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;not provided;not specified	RCV000775977;RCV000243565;RCV000266465;RCV000321667;RCV000357724;RCV000262774;RCV000845409;RCV000036579	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA217635;233878008;Human Phenotype Ontology;C0007194;ORPHA217569;Human Phenotype Ontology;C4021133;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3729547
Clinvar_Rec_11039	rs45608937	Uncertain significance	Familial hypertrophic cardiomyopathy 2;Familial restrictive cardiomyopathy 3;Left ventricular noncompaction 6	RCV000646061;RCV000646061;RCV000646061	MedGen;OMIM;OMIM;OMIM	C1861864;115195;MedGen;612422;MedGen;601494	criteria provided, single submitter	tagSNP	rs45608937
Clinvar_Rec_11040	rs1558478047	Likely pathogenic	Intellectual disability, autosomal recessive 65	RCV000678687	MedGen;OMIM	C4748219;618109	criteria provided, single submitter	tagSNP	rs1558478047
Clinvar_Rec_11041	rs5704	Benign/Likely benign	Familial juvenile hyperuricemic nephropathy;Renal dysplasia;not provided	RCV000317744;RCV000260185;RCV000958549	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239392;Human Phenotype Ontology;C0266313;267430;ORPHA3033;204949001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5704
Clinvar_Rec_11042	rs587777835	Pathogenic	Hypogonadotropic hypogonadism 13 with or without anosmia	RCV000030951	MedGen;OMIM	C3541462;614842	no assertion criteria provided	tagSNP	rs587777835
Clinvar_Rec_11043	rs1553275034	Pathogenic	Amelogenesis imperfecta, type IA	RCV000157635	MedGen;OMIM;SNOMED CT	C4011403;104530;109476006	no assertion criteria provided	tagSNP	rs1553275034
Clinvar_Rec_11044	rs1553275195	Pathogenic	Amelogenesis imperfecta, type IA	RCV000520930	MedGen;OMIM;SNOMED CT	C4011403;104530;109476006	no assertion criteria provided	tagSNP	rs1553275195
Clinvar_Rec_11045	rs745574977	Uncertain significance	Junctional epidermolysis bullosa gravis of Herlitz	RCV000668491	MedGen;OMIM;Orphanet;SNOMED CT	C0079683;226700;ORPHA79404;400140006	criteria provided, single submitter	tagSNP	rs745574977
Clinvar_Rec_11046	rs187379424	Likely benign	Cleft Lip +/- Cleft Palate, Autosomal Dominant;Popliteal pterygium syndrome;Van der Woude syndrome	RCV000401416;RCV000334718;RCV000303929	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	CN239161;MedGen;119500;ORPHA294963;66783006;MedGen;119300;79261008	criteria provided, single submitter	tagSNP	rs187379424
Clinvar_Rec_11047	rs1340611668	Likely pathogenic	Inborn genetic diseases	RCV000624001	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1340611668
Clinvar_Rec_11048	rs886045899	Uncertain significance	Leber congenital amaurosis	RCV000290319	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	criteria provided, single submitter	tagSNP	rs886045899
Clinvar_Rec_11049	rs781387518	Uncertain significance	Leber congenital amaurosis	RCV000369658	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	criteria provided, single submitter	tagSNP	rs781387518
Clinvar_Rec_11050	rs767737768	Likely benign	Oromandibular-limb hypogenesis spectrum	RCV000240328	MedGen;OMIM;Orphanet;SNOMED CT	C0221060;157900;ORPHA570;89444000	no assertion criteria provided	tagSNP	rs767737768
Clinvar_Rec_11051	rs886045941	Uncertain significance	Posterior column ataxia-retinitis pigmentosa syndrome	RCV000384185	MedGen;OMIM;Orphanet	C1836916;609033;ORPHA88628	criteria provided, single submitter	tagSNP	rs886045941
Clinvar_Rec_11052	rs143344549	Pathogenic/Likely pathogenic	Rare genetic deafness;Usher syndrome, type 2A;not provided	RCV000613330;RCV000986515;RCV001040115	MedGen;Orphanet;OMIM	CN826980;ORPHA96210;MedGen;276901;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143344549
Clinvar_Rec_11053	rs1553250192	Likely pathogenic	Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV000672574;RCV000672574	MedGen;OMIM;OMIM	C3151138;613809;MedGen;276901	criteria provided, single submitter	tagSNP	rs1553250192
Clinvar_Rec_11054	rs746837034	Likely pathogenic	Retinal dystrophy	RCV000225551	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs746837034
Clinvar_Rec_11055	rs527236124	Likely pathogenic	Retinal dystrophy;Retinitis pigmentosa	RCV001075191;RCV000132705	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009	criteria provided, single submitter	tagSNP	rs527236124
Clinvar_Rec_11056	rs1553252347	Uncertain significance	Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV000670045;RCV000670045	MedGen;OMIM;OMIM	C3151138;613809;MedGen;276901	criteria provided, single submitter	tagSNP	rs1553252347
Clinvar_Rec_11057	rs1553252388	Pathogenic/Likely pathogenic	Retinal dystrophy;Retinitis pigmentosa;not provided	RCV001074750;RCV000504662;RCV000599475	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553252388
Clinvar_Rec_11058	rs139474806	Uncertain significance	Retinal dystrophy;Retinitis pigmentosa;Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV001074211;RCV001003255;RCV000669731;RCV000669731	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen;613809;MedGen;276901	criteria provided, multiple submitters, no conflicts	tagSNP	rs139474806
Clinvar_Rec_11059	rs111033417	Pathogenic/Likely pathogenic	Rare genetic deafness;Retinal dystrophy	RCV000041739;RCV001073672	MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	CN826980;ORPHA96210;Human Phenotype Ontology;C0854723;ORPHA71862;314407005	criteria provided, multiple submitters, no conflicts	tagSNP	rs111033417
Clinvar_Rec_11060	rs1558099166	Uncertain significance	Retinitis pigmentosa 39	RCV000678641	MedGen;OMIM	C3151138;613809	no assertion criteria provided	tagSNP	rs1558099166
Clinvar_Rec_11061	rs144892841	Uncertain significance	Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV000667675;RCV000667675	MedGen;OMIM;OMIM	C3151138;613809;MedGen;276901	criteria provided, single submitter	tagSNP	rs144892841
Clinvar_Rec_11062	rs766590491	Pathogenic	Rare genetic deafness;Retinal dystrophy;Retinitis pigmentosa 39	RCV000213731;RCV001075409;RCV000666615	MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;OMIM	CN826980;ORPHA96210;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen;613809	criteria provided, multiple submitters, no conflicts	tagSNP	rs766590491
Clinvar_Rec_11063	rs1553285944	Likely pathogenic	Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV000673506;RCV000673506	MedGen;OMIM;OMIM	C3151138;613809;MedGen;276901	criteria provided, single submitter	tagSNP	rs1553285944
Clinvar_Rec_11064	rs1553300340	Likely pathogenic	Retinitis pigmentosa 39;Usher syndrome, type 2A	RCV000672653;RCV000672653	MedGen;OMIM;OMIM	C3151138;613809;MedGen;276901	criteria provided, single submitter	tagSNP	rs1553300340
Clinvar_Rec_11065	rs769348449	Uncertain significance	Retinitis Pigmentosa, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000286445;RCV000341464	MedGen;OMIM;SNOMED CT	CN239466;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs769348449
Clinvar_Rec_11066	rs886045952	Uncertain significance	Retinitis Pigmentosa, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000347353;RCV000396512	MedGen;OMIM;SNOMED CT	CN239466;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs886045952
Clinvar_Rec_11067	rs1215540106	Likely pathogenic	Usher syndrome	RCV000504843	MeSH;MedGen;Orphanet	D052245;C0271097;ORPHA886	no assertion criteria provided	tagSNP	rs1215540106
Clinvar_Rec_11068	rs534534437	Pathogenic	Rare genetic deafness;Retinal dystrophy;not provided	RCV000592080;RCV001074303;RCV000599059	MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	CN826980;ORPHA96210;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs534534437
Clinvar_Rec_11069	rs1366496013	Pathogenic/Likely pathogenic	Retinal dystrophy;Retinitis pigmentosa 39;Usher syndrome, type 2A;Usher syndrome, type 2A;not provided	RCV001073236;RCV000668783;RCV000588348;RCV000668783;RCV000804948	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;613809;MedGen;276901;MedGen;276901;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1366496013
Clinvar_Rec_11070	rs1553292105	Pathogenic	Inborn genetic diseases	RCV000623776	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553292105
Clinvar_Rec_11071	rs1060501982	Uncertain significance	Holt-Oram syndrome	RCV000462439	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs1060501982
Clinvar_Rec_11072	rs1553303203	Pathogenic	Holt-Oram syndrome	RCV000550583	MedGen;OMIM;Orphanet;SNOMED CT	C0265264;142900;ORPHA392;19092004	criteria provided, single submitter	tagSNP	rs1553303203
Clinvar_Rec_11073	rs549201564	Uncertain significance	Hypermanganesemia with dystonia 1	RCV000386081	MedGen;OMIM	C2750442;613280	criteria provided, single submitter	LD derived	rs34097842
Clinvar_Rec_11074	rs201613456	Conflicting interpretations of pathogenicity	Cataract-intellectual disability-hypogonadism syndrome;Warburg micro syndrome;not provided;not specified	RCV000393027;RCV000299268;RCV000877111;RCV000193412	MedGen;OMIM;Orphanet;Orphanet	C0796037;212720;ORPHA1387;MedGen;ORPHA2510;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201613456
Clinvar_Rec_11075	rs1553359034	Pathogenic	SKRABAN-DEARDORFF SYNDROME	RCV000497929	MedGen;OMIM;Orphanet	C4539927;617616;ORPHA513456	no assertion criteria provided	tagSNP	rs1553359034
Clinvar_Rec_11076	rs539025487	Uncertain significance	Left-right axis malformations	RCV000644864	MedGen	C1866091	criteria provided, single submitter	tagSNP	rs539025487
Clinvar_Rec_11077	rs149969900	Benign/Likely benign	Heterotaxia;not provided;not specified	RCV000303298;RCV000466563;RCV000126615	Human Phenotype Ontology;MedGen;Orphanet	HP;C3178805;ORPHA450;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149969900
Clinvar_Rec_11078	rs141680926	Likely benign	Heterotaxia;not provided	RCV000389368;RCV000861464	Human Phenotype Ontology;MedGen;Orphanet	HP;C3178805;ORPHA450;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141680926
Clinvar_Rec_11079	rs200610057	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Early-onset autosomal dominant Alzheimer disease;not provided	RCV000368015;RCV000313369;RCV000585156	MedGen;Orphanet	CN239310;MedGen;ORPHA1020;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200610057
Clinvar_Rec_11080	rs199979779	Uncertain significance	Inborn genetic diseases	RCV000210592	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs199979779
Clinvar_Rec_11081	rs1553255444	Uncertain significance	Congenital myopathy with excess of thin filaments	RCV000527348	MedGen;OMIM;Orphanet	C3711389;161800;ORPHA98904	criteria provided, single submitter	tagSNP	rs1553255444
Clinvar_Rec_11082	rs605430	Likely benign	Congenital fiber-type disproportion;Familial restrictive cardiomyopathy;Nemaline myopathy	RCV000384487;RCV000349853;RCV000290269	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA217635;233878008;MedGen;ORPHA607;75072002	criteria provided, single submitter	tagSNP	rs605430
Clinvar_Rec_11083	rs605430	Likely benign	Congenital fiber-type disproportion;Familial restrictive cardiomyopathy;Nemaline myopathy	RCV000393746;RCV000300855;RCV000355646	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	CN235628;MedGen;ORPHA217635;233878008;MedGen;ORPHA607;75072002	criteria provided, single submitter	LD derived	rs605428
Clinvar_Rec_11084	rs886046080	Uncertain significance	Renal dysplasia	RCV000386467	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001	criteria provided, single submitter	tagSNP	rs886046080
Clinvar_Rec_11085	rs574848765	Likely benign	Familial erythrocytosis	RCV000277536	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs574848765
Clinvar_Rec_11086	rs1553319504	Pathogenic	IMMUNODEFICIENCY, COMMON VARIABLE, 14	RCV000515469	MedGen;OMIM	C4540380;617765	no assertion criteria provided	tagSNP	rs1553319504
Clinvar_Rec_11087	rs751704449	Uncertain significance	Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	RCV000694162;RCV000694162	MedGen;OMIM;OMIM	C3541517;614940;MedGen;614941	criteria provided, single submitter	tagSNP	rs751704449
Clinvar_Rec_11088	rs730880040	Uncertain significance	Ventricular fibrillation	RCV000157095	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004287;HP;C0042510;71908006	no assertion criteria provided	tagSNP	rs730880040
Clinvar_Rec_11089	rs752782663	Likely benign	Cardiovascular phenotype	RCV000621692	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs752782663
Clinvar_Rec_11090	rs112882610	Uncertain significance	Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy	RCV000462789;RCV000462789	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C2677338;612158;MeSH;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs112882610
Clinvar_Rec_11091	rs758358941	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy	RCV000768735;RCV000548861;RCV000548861	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;612158;MeSH;C0949658;ORPHA155;83978005	criteria provided, multiple submitters, no conflicts	tagSNP	rs758358941
Clinvar_Rec_11092	rs769126818	Uncertain significance	Familial hypertrophic cardiomyopathy 1	RCV000201923	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	tagSNP	rs769126818
Clinvar_Rec_11093	rs957128342	Uncertain significance	Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy	RCV000705842;RCV000705842	MedGen;OMIM;MedGen;Orphanet;SNOMED CT	C2677338;612158;MeSH;C0949658;ORPHA155;83978005	criteria provided, single submitter	tagSNP	rs957128342
Clinvar_Rec_11094	rs556612523	Likely benign	Cardiomyopathy;Dilated cardiomyopathy 1AA;Primary familial hypertrophic cardiomyopathy	RCV000769768;RCV000638639;RCV000638639	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;612158;MeSH;C0949658;ORPHA155;83978005	criteria provided, multiple submitters, no conflicts	tagSNP	rs556612523
Clinvar_Rec_11095	rs34975493	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided;not specified	RCV000029297;RCV000251352;RCV000357456;RCV000311909;RCV000467668;RCV000036895	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34975493
Clinvar_Rec_11096	rs193922635	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 1;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000029298;RCV000251944;RCV000172894;RCV000624427;RCV000766343;RCV000036896	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;192600;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs193922635
Clinvar_Rec_11097	rs1131449	Benign	Disorders of Intracellular Cobalamin Metabolism;not specified	RCV000320660;RCV000126863	MedGen	CN043592;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1131449
Clinvar_Rec_11098	rs1131449	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000369614	MedGen	CN043592	criteria provided, single submitter	LD derived	rs2853522
Clinvar_Rec_11099	rs1131449	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000320905	MedGen	CN043592	criteria provided, single submitter	LD derived	rs6676866
Clinvar_Rec_11100	rs1131449	Benign	Disorders of Intracellular Cobalamin Metabolism	RCV000405275	MedGen	CN043592	criteria provided, single submitter	LD derived	rs4659746
Clinvar_Rec_11101	rs865784613	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000530266	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs865784613
Clinvar_Rec_11102	rs931490334	Uncertain significance	Cardiomyopathy	RCV000774193	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs931490334
Clinvar_Rec_11103	rs397516525	Likely benign	Cardiomyopathy;not specified	RCV000771380;RCV000036731	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516525
Clinvar_Rec_11104	rs727503396	Uncertain significance	Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia type 1;not specified	RCV000620852;RCV000639022;RCV000157442;RCV000151753	MedGen;Orphanet;OMIM	CN230736;MedGen;ORPHA3286;MedGen;604772;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503396
Clinvar_Rec_11105	rs397516528	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000777967;RCV000639186;RCV000036737	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516528
Clinvar_Rec_11106	rs869025507	Uncertain significance	Cardiac arrest	RCV000208358	Human Phenotype Ontology;MedGen	HP;C0018790	criteria provided, single submitter	tagSNP	rs869025507
Clinvar_Rec_11107	rs1268335647	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000696527	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs1268335647
Clinvar_Rec_11108	rs886041109	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia type 1	RCV000258938	MedGen;OMIM	C4053736;604772	criteria provided, single submitter	tagSNP	rs886041109
Clinvar_Rec_11109	rs202040519	Uncertain significance	Cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not provided;not specified	RCV000771900;RCV000619369;RCV000639113;RCV000656970;RCV000154813	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA3286;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs202040519
Clinvar_Rec_11110	rs730880189	Uncertain significance	Primary familial hypertrophic cardiomyopathy	RCV000157450	MeSH;MedGen;Orphanet;SNOMED CT	D024741;C0949658;ORPHA155;83978005	no assertion criteria provided	tagSNP	rs730880189
Clinvar_Rec_11111	rs754181384	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia;not provided	RCV000639044;RCV000523211	MedGen;Orphanet	C1631597;ORPHA3286;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs754181384
Clinvar_Rec_11112	rs1559117015	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000700968	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs1559117015
Clinvar_Rec_11113	rs371310419	Likely benign	Catecholaminergic polymorphic ventricular tachycardia	RCV000533049	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs371310419
Clinvar_Rec_11114	rs554220274	Uncertain significance	Cardiomyopathy	RCV000774094	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs554220274
Clinvar_Rec_11115	rs375371340	Uncertain significance	Cardiovascular phenotype	RCV000621646	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs375371340
Clinvar_Rec_11116	rs780643623	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia;not provided	RCV000689347;RCV000182768	MedGen;Orphanet	C1631597;ORPHA3286;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780643623
Clinvar_Rec_11117	rs1553322906	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000541149	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs1553322906
Clinvar_Rec_11118	rs753733164	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000698208	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs753733164
Clinvar_Rec_11119	rs1423265074	Uncertain significance	Cardiovascular phenotype	RCV000618671	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1423265074
Clinvar_Rec_11120	rs886046284	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Catecholaminergic polymorphic ventricular tachycardia	RCV000294054;RCV000374529	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA3286	criteria provided, single submitter	tagSNP	rs886046284
Clinvar_Rec_11121	rs749713004	Uncertain significance	Fumarase deficiency	RCV000528987	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs749713004
Clinvar_Rec_11122	rs776313200	Conflicting interpretations of pathogenicity	Fumarase deficiency;Hereditary cancer-predisposing syndrome	RCV000697134;RCV001019860	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs776313200
Clinvar_Rec_11123	rs1553341353	Pathogenic	Fumarase deficiency	RCV000539618	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs1553341353
Clinvar_Rec_11124	rs1060499634	Pathogenic	Hereditary leiomyomatosis and renal cell cancer	RCV000445619	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1708350;150800;ORPHA523	criteria provided, single submitter	tagSNP	rs1060499634
Clinvar_Rec_11125	rs2275155	Benign	Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia;Senior-Loken syndrome 7;not specified	RCV000319736;RCV000259930;RCV000608817;RCV000253187	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;ORPHA3156;236531005;MedGen;613615;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2275155
Clinvar_Rec_11126	rs1390963789	Likely pathogenic	Senior-Loken syndrome 7	RCV000761352	MedGen;OMIM	C3150877;613615	criteria provided, single submitter	tagSNP	rs1390963789
Clinvar_Rec_11127	rs1057515424	Uncertain significance	Bardet-Biedl syndrome;Renal dysplasia and retinal aplasia	RCV000299442;RCV000358901	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen;ORPHA3156;236531005	criteria provided, single submitter	tagSNP	rs1057515424
Clinvar_Rec_11128	rs778392648	Uncertain significance	heterogeneous nuclear ribonucleoprotein G, human	RCV000705574	MedGen	C1723387	criteria provided, single submitter	tagSNP	rs778392648
Clinvar_Rec_11129	rs180177462	Conflicting interpretations of pathogenicity	Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome;Familial cold urticaria;not provided	RCV000378566;RCV000344447;RCV000287154;RCV000084253;RCV000213159	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0409818;607115;ORPHA1451;239826001;MedGen;191900;ORPHA575;15123008;MedGen;120100;ORPHA47045;238687000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs180177462
Clinvar_Rec_11130	rs1473184666	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate C	RCV000704879	MedGen;OMIM;Orphanet	C1842237;608323;ORPHA100045	criteria provided, single submitter	tagSNP	rs1473184666
Clinvar_Rec_11131	rs1057515550	Uncertain significance	Charcot-Marie-Tooth, Intermediate	RCV000272204	MedGen	CN239334	criteria provided, single submitter	tagSNP	rs1057515550
Clinvar_Rec_11132	rs114849395	Uncertain significance	Charcot-Marie-Tooth, Intermediate	RCV000274803	MedGen	CN239334	criteria provided, single submitter	LD derived	rs113748028
Clinvar_Rec_11133	rs114849395	Uncertain significance	Charcot-Marie-Tooth, Intermediate	RCV000320383	MedGen	CN239334	criteria provided, single submitter	LD derived	rs112104823
Clinvar_Rec_11134	rs764352147	Uncertain significance	Erythrokeratodermia variabilis et progressiva 1;Nonsyndromic Hearing Loss, Dominant	RCV000310478;RCV000358292	MedGen;OMIM;Orphanet	C4551486;133200;ORPHA495;MedGen	criteria provided, single submitter	tagSNP	rs764352147
Clinvar_Rec_11135	rs777765331	Uncertain significance	Erythrokeratodermia variabilis et progressiva 1;Nonsyndromic Hearing Loss, Dominant	RCV000362742;RCV000315510	MedGen;OMIM;Orphanet	C4551486;133200;ORPHA495;MedGen	criteria provided, single submitter	tagSNP	rs777765331
Clinvar_Rec_11136	rs2236214	Benign	Erythrokeratodermia variabilis et progressiva 1;Nonsyndromic Hearing Loss, Dominant	RCV000266768;RCV000324323	MedGen;OMIM;Orphanet	C4551486;133200;ORPHA495;MedGen	criteria provided, single submitter	tagSNP	rs2236214
Clinvar_Rec_11137	rs1557732234	Pathogenic	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	RCV000721144	MedGen;OMIM	C4748527;618170	no assertion criteria provided	tagSNP	rs1557732234
Clinvar_Rec_11138	rs199622789	Uncertain significance	Combined oxidative phosphorylation deficiency 35;TRIT1 Deficiency	RCV000584739;RCV000477657	MedGen;OMIM	C4693466;617873;MedGen	criteria provided, single submitter	tagSNP	rs199622789
Clinvar_Rec_11139	rs2228564	Benign	Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified	RCV000297316;RCV000401202;RCV000248635	MedGen	CN043640;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2228564
Clinvar_Rec_11140	rs796053262	Uncertain significance	GLUT1 deficiency syndrome 1, autosomal recessive	RCV000648080	MedGen	C3149117	criteria provided, single submitter	tagSNP	rs796053262
Clinvar_Rec_11141	rs796053248	Pathogenic	Dystonia 9;Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 1, autosomal recessive;GLUT1 deficiency syndrome 2;Stomatin-deficient cryohydrocytosis with neurologic defects;not provided	RCV000763337;RCV000763337;RCV000763337;RCV000546488;RCV000763337;RCV000763337;RCV000189355	MedGen;OMIM;Orphanet;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1832855;601042;ORPHA53583;MedGen;614847;MedGen;606777;MedGen;612126;ORPHA98811;MedGen;608885;ORPHA168577;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053248
Clinvar_Rec_11142	rs377674001	Conflicting interpretations of pathogenicity	GLUT1 deficiency syndrome 1;not provided;not specified	RCV000147526;RCV000648093;RCV000128106	MedGen;OMIM	C4551966;606777;MedGen	criteria provided, conflicting interpretations	tagSNP	rs377674001
Clinvar_Rec_11143	rs2153303	Benign/Likely benign	Dystonia;not provided	RCV000283528;RCV000832506	Human Phenotype Ontology;MedGen	HP;C0013421;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114514007
Clinvar_Rec_11144	rs141311765	Conflicting interpretations of pathogenicity	Congenital amegakaryocytic thrombocytopenia;not provided;not specified	RCV000778239;RCV000860830;RCV000121549	MedGen;OMIM;Orphanet	C1327915;604498;ORPHA3319;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141311765
Clinvar_Rec_11145	rs759161511	Conflicting interpretations of pathogenicity	Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 1;not provided	RCV000321411;RCV000376584;RCV000863244	MedGen;OMIM;Orphanet;MedGen;OMIM	C1327915;604498;ORPHA3319;MeSH;C3277671;187950;MedGen	criteria provided, conflicting interpretations	tagSNP	rs759161511
Clinvar_Rec_11146	rs140794721	Likely benign	Congenital amegakaryocytic thrombocytopenia;Thrombocythemia 1	RCV000526431;RCV000526431	MedGen;OMIM;Orphanet;MedGen;OMIM	C1327915;604498;ORPHA3319;MeSH;C3277671;187950	criteria provided, single submitter	tagSNP	rs140794721
Clinvar_Rec_11147	rs1553138869	Uncertain significance	Early infantile epileptic encephalopathy 18	RCV000677214	MedGen;OMIM	C3809624;615476	no assertion criteria provided	tagSNP	rs1553138869
Clinvar_Rec_11148	rs148208657	Likely benign	Seizures;not provided	RCV000715907;RCV000862900	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148208657
Clinvar_Rec_11149	rs373047934	Benign/Likely benign	Seizures;not provided	RCV000718229;RCV000472892	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373047934
Clinvar_Rec_11150	rs12089231	Benign/Likely benign	Seizures;not provided	RCV000716663;RCV000862871	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12089231
Clinvar_Rec_11151	rs1271549438	Uncertain significance	Seizures	RCV000718101	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1271549438
Clinvar_Rec_11152	rs1557606189	Uncertain significance	Seizures	RCV000716275	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1557606189
Clinvar_Rec_11153	rs567018180	Conflicting interpretations of pathogenicity	Congenital amegakaryocytic thrombocytopenia;not provided;not specified	RCV000670806;RCV000867193;RCV000121552	MedGen;OMIM;Orphanet	C1327915;604498;ORPHA3319;MedGen	criteria provided, conflicting interpretations	LD derived	rs546510242
Clinvar_Rec_11154	rs1557644727	Uncertain significance	Gorlin syndrome	RCV000688918	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1557644727
Clinvar_Rec_11155	rs767012968	Uncertain significance	Porphyria cutanea tarda	RCV000395714	MedGen;Orphanet;SNOMED CT	C0162566;ORPHA101330;61860000	criteria provided, single submitter	tagSNP	rs767012968
Clinvar_Rec_11156	rs749212259	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000773655;RCV000932686	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749212259
Clinvar_Rec_11157	rs1553125769	Uncertain significance	MYH-associated polyposis	RCV000553798	MedGen;OMIM;Orphanet	C1837991;608456;ORPHA247798	criteria provided, single submitter	tagSNP	rs1553125769
Clinvar_Rec_11158	rs1557461836	Uncertain significance	MYH-associated polyposis	RCV000687481	MedGen;OMIM;Orphanet	C1837991;608456;ORPHA247798	criteria provided, single submitter	tagSNP	rs1557461836
Clinvar_Rec_11159	rs3219489	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not specified	RCV000777602;RCV000640420;RCV000584255	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798;MedGen	criteria provided, conflicting interpretations	tagSNP	rs3219489
Clinvar_Rec_11160	rs3219489	Benign	Carcinoma of colon;Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified	RCV000144634;RCV000131427;RCV000299432;RCV000034684;RCV000079500	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet	C0009402;114500;269533000;MedGen;ORPHA140162;699346009;MedGen;608456;ORPHA247798;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3219489
Clinvar_Rec_11161	rs1334226337	Likely benign	Hereditary cancer-predisposing syndrome	RCV000774228	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1334226337
Clinvar_Rec_11162	rs1553127007	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575765	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553127007
Clinvar_Rec_11163	rs587782438	Uncertain significance	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	RCV000131501;RCV001062564	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782438
Clinvar_Rec_11164	rs786201772	Uncertain significance	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	RCV000164236;RCV000411809	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201772
Clinvar_Rec_11165	rs764221826	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000571855;RCV000464190	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764221826
Clinvar_Rec_11166	rs373246922	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000394444	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs373246922
Clinvar_Rec_11167	rs398124295	Pathogenic	Methylmalonic acidemia with homocystinuria;not provided	RCV000383499;RCV000790827	MedGen;OMIM;Orphanet	C1848561;277400;ORPHA26;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398124295
Clinvar_Rec_11168	rs587776889	Pathogenic	Methylmalonic acidemia with homocystinuria;not provided	RCV000023785;RCV000756343	MedGen;OMIM;Orphanet	C1848561;277400;ORPHA26;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587776889
Clinvar_Rec_11169	rs765906814	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	RCV000693960;RCV000693960	MedGen;OMIM;OMIM;Orphanet	C3150412;613151;MedGen;613157;ORPHA206564	criteria provided, single submitter	tagSNP	rs765906814
Clinvar_Rec_11170	rs1057516903	Likely pathogenic	Muscle eye brain disease	RCV000410825	MedGen;OMIM;Orphanet;SNOMED CT	C0457133;253280;ORPHA588;277950001	criteria provided, single submitter	tagSNP	rs1057516903
Clinvar_Rec_11171	rs753030030	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;not provided	RCV000648194;RCV000648194;RCV000312122	MedGen;OMIM;OMIM;Orphanet	C3150412;613151;MedGen;613157;ORPHA206564;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs753030030
Clinvar_Rec_11172	rs534543454	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Muscle eye brain disease;Retinitis pigmentosa 76;not provided;not specified	RCV000763933;RCV000763933;RCV000763933;RCV000763933;RCV000726595;RCV000404503	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM	C3150412;613151;MedGen;613157;ORPHA206564;MedGen;253280;ORPHA588;277950001;MedGen;617123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs534543454
Clinvar_Rec_11173	rs544816408	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;not provided	RCV000559267;RCV000559267;RCV000407481	MedGen;OMIM;OMIM;Orphanet	C3150412;613151;MedGen;613157;ORPHA206564;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs544816408
Clinvar_Rec_11174	rs386834033	Likely pathogenic	Muscle eye brain disease	RCV000050016	MedGen;OMIM;Orphanet;SNOMED CT	C0457133;253280;ORPHA588;277950001	no assertion criteria provided	tagSNP	rs386834033
Clinvar_Rec_11175	rs113566681	Conflicting interpretations of pathogenicity	Meier-Gorlin syndrome;not provided;not specified	RCV000376527;RCV000870516;RCV000117881	MedGen;Orphanet	C1868684;ORPHA2554;MedGen	criteria provided, conflicting interpretations	LD derived	rs61753390
Clinvar_Rec_11176	rs201253919	Pathogenic	Meier-Gorlin syndrome 1	RCV000023160	MedGen;OMIM	C4552001;224690	no assertion criteria provided	tagSNP	rs201253919
Clinvar_Rec_11177	rs780572767	Pathogenic	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	RCV000767395	MedGen;OMIM	C5193070;618387	no assertion criteria provided	tagSNP	rs780572767
Clinvar_Rec_11178	rs28936375	Pathogenic	Arthritis;Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Chronic pain;Dysautonomia;Encephalopathy, acute, infection-induced, 4, susceptibility to;Gastrointestinal dysmotility;Inappropriate sinus tachycardia;Pancytopenia;Polyarticular arthritis;Sinus tachycardia;not provided	RCV000735345;RCV000202440;RCV000009512;RCV000762941;RCV000762941;RCV000009511;RCV000762941;RCV000735345;RCV000735345;RCV000762941;RCV000735345;RCV000735345;RCV000735345;RCV000735345;RCV000735345;RCV000440440	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;MedGen;MedGen;OMIM;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0003864;MedGen;ORPHA157;238002005;MedGen;600649;ORPHA228305;MedGen;600649;ORPHA228305;MedGen;608836;ORPHA228308;MedGen;255110;ORPHA228302;MedGen;255110;ORPHA228302;Human Phenotype Ontology;C0150055;Human Phenotype Ontology;C0013363;MedGen;614212;Human Phenotype Ontology;C1836923;Human Phenotype Ontology;C1881170;Human Phenotype Ontology;C0030312;Human Phenotype Ontology;C0162323;Human Phenotype Ontology;C0039239;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28936375
Clinvar_Rec_11179	rs1553169106	Likely pathogenic	Carnitine palmitoyltransferase II deficiency, infantile	RCV000668377	MedGen;OMIM;Orphanet	C1833511;600649;ORPHA228305	criteria provided, single submitter	tagSNP	rs1553169106
Clinvar_Rec_11180	rs75939866	Benign	Carnitine palmitoyltransferase II deficiency, infantile;not provided;not specified	RCV000986322;RCV000544913;RCV000124603	MedGen;OMIM;Orphanet	C1833511;600649;ORPHA228305;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs75939866
Clinvar_Rec_11181	rs515726174	Pathogenic	Carnitine palmitoyltransferase II deficiency	RCV000202541	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	no assertion criteria provided	tagSNP	rs515726174
Clinvar_Rec_11182	rs201545563	Uncertain significance	Desmosterolosis	RCV000362405	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	criteria provided, single submitter	LD derived	rs114343980
Clinvar_Rec_11183	rs371075692	Uncertain significance	Desmosterolosis	RCV000406539	MedGen;OMIM;Orphanet	C1865596;602398;ORPHA35107	criteria provided, single submitter	tagSNP	rs371075692
Clinvar_Rec_11184	rs886046423	Uncertain significance	Bartter syndrome	RCV000393858	MedGen;Orphanet	C0004775;ORPHA112	criteria provided, single submitter	tagSNP	rs886046423
Clinvar_Rec_11185	rs33938617	Benign/Likely benign	Bartter disease type 4a;Bartter syndrome;not specified	RCV000576696;RCV000404025;RCV000039823	MedGen;OMIM;Orphanet	C1865270;602522;MedGen;ORPHA112;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs33938617
Clinvar_Rec_11186	rs4339899	Benign	Bartter syndrome	RCV000259789	MedGen;Orphanet	C0004775;ORPHA112	criteria provided, single submitter	tagSNP	rs4339899
Clinvar_Rec_11187	rs886039837	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1	RCV000775015;RCV000256269	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002	criteria provided, conflicting interpretations	tagSNP	rs886039837
Clinvar_Rec_11188	rs587777485	Pathogenic	Epileptic encephalopathy, early infantile, 23	RCV000128438	MedGen;OMIM;Orphanet	C4014492;615859;ORPHA411986	no assertion criteria provided	tagSNP	rs587777485
Clinvar_Rec_11189	rs753509954	Uncertain significance	Epileptic encephalopathy, early infantile, 23	RCV000540591	MedGen;OMIM;Orphanet	C4014492;615859;ORPHA411986	criteria provided, single submitter	tagSNP	rs753509954
Clinvar_Rec_11190	rs775510896	Uncertain significance	Epileptic encephalopathy, early infantile, 23;not provided	RCV001043247;RCV000513695	MedGen;OMIM;Orphanet	C4014492;615859;ORPHA411986;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775510896
Clinvar_Rec_11191	rs140035988	Uncertain significance	Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1t	RCV000306158;RCV000397885	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0282577;ORPHA137;238049009;MedGen;614921;ORPHA319646	criteria provided, multiple submitters, no conflicts	tagSNP	rs140035988
Clinvar_Rec_11192	rs879255554	Pathogenic	Parkinson disease 19b, early-onset	RCV000239573	MedGen	CN237819	no assertion criteria provided	tagSNP	rs879255554
Clinvar_Rec_11193	rs61752909	Pathogenic	Leber congenital amaurosis 2;Leber congenital amaurosis 2;Retinitis pigmentosa 20;Retinitis pigmentosa 20;not provided	RCV000986328;RCV001047062;RCV000013997;RCV001047062;RCV000085141	MedGen;OMIM;OMIM;OMIM;OMIM	C1859844;204100;MedGen;204100;MedGen;613794;MedGen;613794;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61752909
Clinvar_Rec_11194	rs61752873	Pathogenic	Leber congenital amaurosis 2;Retinitis pigmentosa 20;not provided	RCV001061074;RCV001061074;RCV000085186	MedGen;OMIM;OMIM	C1859844;204100;MedGen;613794;MedGen	criteria provided, single submitter	tagSNP	rs61752873
Clinvar_Rec_11195	rs201062742	Uncertain significance	Leber congenital amaurosis;Retinitis Pigmentosa, Recessive	RCV000326761;RCV000381272	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;MedGen	criteria provided, single submitter	tagSNP	rs201062742
Clinvar_Rec_11196	rs398123075	Conflicting interpretations of pathogenicity	Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided	RCV000633657;RCV000593338	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398123075
Clinvar_Rec_11197	rs875989860	Pathogenic/Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000211509	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, multiple submitters, no conflicts	tagSNP	rs875989860
Clinvar_Rec_11198	rs1553236762	Likely benign	Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20	RCV000647292;RCV000647292	MedGen;OMIM;OMIM	C2751084;613122;MedGen;613876	criteria provided, single submitter	tagSNP	rs1553236762
Clinvar_Rec_11199	rs375544798	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000620116;RCV000647289;RCV000041183	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375544798
Clinvar_Rec_11200	rs1002648603	Uncertain significance	Cardiovascular phenotype	RCV000620205	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1002648603
Clinvar_Rec_11201	rs771262904	Likely pathogenic	Dilated cardiomyopathy 1CC	RCV000735692	MedGen;OMIM	C2751084;613122	no assertion criteria provided	tagSNP	rs771262904
Clinvar_Rec_11202	rs181520023	Uncertain significance	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified	RCV000619532;RCV000384181;RCV000535150;RCV000535150;RCV000287471;RCV000845501;RCV000766517;RCV000223852	MedGen;OMIM;OMIM;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;613122;MedGen;613876;Human Phenotype Ontology;C0007194;ORPHA217569;MeSH;C0949658;ORPHA155;83978005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs181520023
Clinvar_Rec_11203	rs796447682	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy	RCV000271326;RCV000331120	MedGen;MedGen;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs796447682
Clinvar_Rec_11204	rs143479546	Likely benign	Glomuvenous malformations	RCV000363649	MedGen;OMIM;Orphanet	C1841984;138000;ORPHA83454	criteria provided, single submitter	LD derived	rs146069171
Clinvar_Rec_11205	rs535813981	Likely benign	Glomuvenous malformations	RCV000285921	MedGen;OMIM;Orphanet	C1841984;138000;ORPHA83454	criteria provided, single submitter	tagSNP	rs535813981
Clinvar_Rec_11206	rs149654578	Likely benign	Severe congenital neutropenia	RCV000390749	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	LD derived	rs139390290
Clinvar_Rec_11207	rs61753046	Pathogenic	Cone/cone-rod dystrophy;Stargardt disease 1;not provided	RCV000504742;RCV000408450;RCV000085837	Human Phenotype Ontology;MedGen;Orphanet;MedGen;OMIM;Orphanet	HP;C0730290;ORPHA1871;MeSH;C1855465;248200;ORPHA364055;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61753046
Clinvar_Rec_11208	rs138831474	Uncertain significance	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided	RCV000310399;RCV000362798;RCV000406989;RCV000350024;RCV000488110	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138831474
Clinvar_Rec_11209	rs761989194	Uncertain significance	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive	RCV000275081;RCV000314854;RCV000367305;RCV000392774	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, single submitter	tagSNP	rs761989194
Clinvar_Rec_11210	rs746468013	Uncertain significance	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive	RCV000272690;RCV000327833;RCV000327729;RCV000366202	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, single submitter	tagSNP	rs746468013
Clinvar_Rec_11211	rs762213896	Uncertain significance	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive	RCV000361939;RCV000317911;RCV000321298;RCV000267412	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, single submitter	tagSNP	rs762213896
Clinvar_Rec_11212	rs779426136	Conflicting interpretations of pathogenicity	ABCA4-Related Disorders;not provided	RCV000385765;RCV000413704	MedGen	CN239167;MedGen	criteria provided, conflicting interpretations	tagSNP	rs779426136
Clinvar_Rec_11213	rs61751386	Pathogenic	Retinitis pigmentosa 19;not provided	RCV000008342;RCV000085435	MedGen;OMIM	C1866422;601718;MedGen	no assertion criteria provided	tagSNP	rs61751386
Clinvar_Rec_11214	rs61752398	Pathogenic	Retinal dystrophy;Stargardt disease 1	RCV001074552;RCV000408543	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	HP;C0854723;ORPHA71862;314407005;MeSH;C1855465;248200;ORPHA364055	criteria provided, multiple submitters, no conflicts	tagSNP	rs61752398
Clinvar_Rec_11215	rs1064793006	Conflicting interpretations of pathogenicity	Retinal dystrophy;not provided	RCV001074372;RCV000486363	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1064793006
Clinvar_Rec_11216	rs886044728	Likely pathogenic	Stargardt disease;Stargardt disease 1	RCV000787483;RCV000408573	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0271093;ORPHA827;70099003;MeSH;C1855465;248200;ORPHA364055	criteria provided, single submitter	tagSNP	rs886044728
Clinvar_Rec_11217	rs139050119	Conflicting interpretations of pathogenicity	Stargardt disease 1;not specified	RCV000408451;RCV000123436	MeSH;MedGen;OMIM;Orphanet	C535804;C1855465;248200;ORPHA364055;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139050119
Clinvar_Rec_11218	rs4147831	Benign/Likely benign	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified	RCV000401282;RCV000400985;RCV000289935;RCV000347341;RCV000085384;RCV000173678	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4147831
Clinvar_Rec_11219	rs3112831	Benign/Likely benign	Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified	RCV000408013;RCV000297592;RCV000303578;RCV000360724;RCV000085383;RCV000173675	MedGen;MedGen;SNOMED CT	CN239309;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3112831
Clinvar_Rec_11220	rs62645952	Pathogenic	Cone-rod dystrophy 3	RCV000132594	MedGen;OMIM	C1858806;604116	no assertion criteria provided	tagSNP	rs62645952
Clinvar_Rec_11221	rs189222612	Uncertain significance	Myasthenic syndrome, congenital, 15	RCV000652501	MedGen;OMIM	C4015596;616227	criteria provided, single submitter	LD derived	rs138996965
Clinvar_Rec_11222	rs886046576	Uncertain significance	Dihydropyrimidine dehydrogenase deficiency	RCV000352966	MedGen;OMIM	C2720286;274270	criteria provided, single submitter	tagSNP	rs886046576
Clinvar_Rec_11223	rs1553183359	Pathogenic	Glycogen storage disease type III	RCV000625692	MedGen;OMIM;Orphanet;SNOMED CT	C0017922;232400;ORPHA366;66937008	no assertion criteria provided	tagSNP	rs1553183359
Clinvar_Rec_11224	rs1443902661	Likely pathogenic	Glycogen storage disease type III	RCV000665707	MedGen;OMIM;Orphanet;SNOMED CT	C0017922;232400;ORPHA366;66937008	criteria provided, single submitter	tagSNP	rs1443902661
Clinvar_Rec_11225	rs148981763	Uncertain significance	Glycogen storage disease type III	RCV000551872	MedGen;OMIM;Orphanet;SNOMED CT	C0017922;232400;ORPHA366;66937008	criteria provided, single submitter	tagSNP	rs148981763
Clinvar_Rec_11226	rs865973751	Likely benign	Glycogen storage disease type III	RCV000631173	MedGen;OMIM;Orphanet;SNOMED CT	C0017922;232400;ORPHA366;66937008	criteria provided, single submitter	tagSNP	rs865973751
Clinvar_Rec_11227	rs12118058	Conflicting interpretations of pathogenicity	Glycogen storage disease;Glycogen storage disease type III	RCV000825508;RCV000531434	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0017919;ORPHA79201;29633007;MedGen;232400;ORPHA366;66937008	criteria provided, conflicting interpretations	tagSNP	rs12118058
Clinvar_Rec_11228	rs1553203137	Uncertain significance	Arthrogryposis, mental retardation, and seizures;not provided	RCV000651915;RCV000731886	MedGen;OMIM;Orphanet	C3809910;615553;ORPHA370943;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553203137
Clinvar_Rec_11229	rs398122524	Pathogenic	Arthrogryposis, mental retardation, and seizures	RCV000074503	MedGen;OMIM;Orphanet	C3809910;615553;ORPHA370943	no assertion criteria provided	tagSNP	rs398122524
Clinvar_Rec_11230	rs146249007	Benign/Likely benign	Maple syrup urine disease;not provided;not specified	RCV000551526;RCV000224772;RCV000079953	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146249007
Clinvar_Rec_11231	rs140360713	Uncertain significance	Brown-Vialetto-Van Laere syndrome 1;not provided	RCV000546514;RCV000762335	MedGen;OMIM	CN029849;211530;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140360713
Clinvar_Rec_11232	rs150159842	Uncertain significance	Brown-Vialetto-Van Laere syndrome 1	RCV000703005	MedGen;OMIM	CN029849;211530	criteria provided, single submitter	tagSNP	rs150159842
Clinvar_Rec_11233	rs77978636	Uncertain significance	Corneal Dystrophy, Recessive	RCV000281024	MedGen	CN239343	criteria provided, single submitter	tagSNP	rs77978636
Clinvar_Rec_11234	rs78860240	Conflicting interpretations of pathogenicity	Corneal Dystrophy, Recessive;not provided	RCV000354757;RCV000959281	MedGen	CN239343;MedGen	criteria provided, conflicting interpretations	tagSNP	rs78860240
Clinvar_Rec_11235	rs869320720	Pathogenic	Corneal endothelial dystrophy	RCV000001371	MedGen;OMIM;Orphanet	C1857569;217700;ORPHA293603	no assertion criteria provided	tagSNP	rs869320720
Clinvar_Rec_11236	rs202203360	Likely benign	Hypogonadism with anosmia	RCV000404745	MedGen;Orphanet;SNOMED CT	C0162809;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs202203360
Clinvar_Rec_11237	rs886037916	Likely pathogenic	Kallmann syndrome 3	RCV000256868	MedGen;OMIM	C3550478;244200	criteria provided, single submitter	tagSNP	rs886037916
Clinvar_Rec_11238	rs377053037	Uncertain significance	Early infantile epileptic encephalopathy 12;not specified	RCV000803156;RCV000501076	MedGen;OMIM	C3150988;613722;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377053037
Clinvar_Rec_11239	rs1568928967	Uncertain significance	Auriculocondylar syndrome 2	RCV000778638	MedGen;OMIM	C3553404;614669	criteria provided, single submitter	tagSNP	rs1568928967
Clinvar_Rec_11240	rs201770060	Uncertain significance	Myasthenic syndrome, congenital, 18	RCV000699630	MedGen;OMIM	C4225364;616330	criteria provided, single submitter	tagSNP	rs201770060
Clinvar_Rec_11241	rs886056501	Uncertain significance	Bardet-Biedl syndrome	RCV000393654	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs886056501
Clinvar_Rec_11242	rs111277443	Uncertain significance	Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease	RCV000372798;RCV000318133	MedGen;Orphanet;SNOMED CT	C0085280;ORPHA52;31742004;MedGen	criteria provided, single submitter	tagSNP	rs111277443
Clinvar_Rec_11243	rs886039393	Pathogenic	Alagille syndrome 1;not provided	RCV000008060;RCV000255046	MedGen;OMIM;Orphanet;Orphanet	C1956125;118450;ORPHA261600;ORPHA261619;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039393
Clinvar_Rec_11244	rs1568794319	Uncertain significance	Alagille syndrome 1	RCV000704696	MedGen;OMIM;Orphanet;Orphanet	C1956125;118450;ORPHA261600;ORPHA261619	criteria provided, single submitter	tagSNP	rs1568794319
Clinvar_Rec_11245	rs199505265	Conflicting interpretations of pathogenicity	Alagille syndrome 1;Arteriohepatic dysplasia;Isolated Nonsyndromic Congenital Heart Disease;not provided	RCV001062019;RCV000390881;RCV000351515;RCV000197189	MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT	C1956125;118450;ORPHA261600;ORPHA261619;MedGen;ORPHA52;31742004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199505265
Clinvar_Rec_11246	rs794727618	Uncertain significance	Alagille syndrome 1;not provided	RCV000697814;RCV000178063	MedGen;OMIM;Orphanet;Orphanet	C1956125;118450;ORPHA261600;ORPHA261619;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727618
Clinvar_Rec_11247	rs1555830973	Uncertain significance	Alagille syndrome 1;not provided	RCV000546018;RCV000591855	MedGen;OMIM;Orphanet;Orphanet	C1956125;118450;ORPHA261600;ORPHA261619;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555830973
Clinvar_Rec_11248	rs145464850	Benign/Likely benign	Congenital dyserythropoietic anemia;not provided;not specified	RCV000308861;RCV000877918;RCV000081406	MedGen;Orphanet	C0002876;ORPHA85;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77945587
Clinvar_Rec_11249	rs561908920	Uncertain significance	Congenital dyserythropoietic anemia	RCV000288232	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs561908920
Clinvar_Rec_11250	rs373348732	Uncertain significance	Congenital dyserythropoietic anemia	RCV000338718	MedGen;Orphanet	C0002876;ORPHA85	criteria provided, single submitter	tagSNP	rs373348732
Clinvar_Rec_11251	rs373348732	Conflicting interpretations of pathogenicity	Congenital dyserythropoietic anemia, type II;not provided;not specified	RCV000490449;RCV000153925;RCV001002127	MedGen;OMIM;Orphanet;SNOMED CT	C1306589;224100;ORPHA98873;68870007;MedGen	criteria provided, conflicting interpretations	LD derived	rs6045440
Clinvar_Rec_11252	rs17807673	Benign/Likely benign	Congenital dyserythropoietic anemia;not specified	RCV000317780;RCV000081399	MedGen;Orphanet	C0002876;ORPHA85;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17807673
Clinvar_Rec_11253	rs567067551	Uncertain significance	Posterior Polymorphous Corneal Dystrophy	RCV000401727	MedGen	CN239252	criteria provided, single submitter	tagSNP	rs567067551
Clinvar_Rec_11254	rs144366921	Uncertain significance	Posterior Polymorphous Corneal Dystrophy	RCV000298965	MedGen	CN239252	criteria provided, single submitter	tagSNP	rs144366921
Clinvar_Rec_11255	rs144366921	Benign	Posterior Polymorphous Corneal Dystrophy	RCV000353760	MedGen	CN239252	criteria provided, single submitter	tagSNP	rs144366921
Clinvar_Rec_11256	rs74644069	Likely benign	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	RCV000319286	MedGen;OMIM;Orphanet	C2675204;612674;ORPHA171848	criteria provided, single submitter	LD derived	rs536190889
Clinvar_Rec_11257	rs567914685	Uncertain significance	Cardiomyopathy, hypertrophic, midventricular, digenic;Familial hypertrophic cardiomyopathy 1	RCV000004465;RCV000539484	MedGen;OMIM	C4016270;MedGen;192600	criteria provided, single submitter	LD derived	rs121908107
Clinvar_Rec_11258	rs1555789900	Likely benign	Familial hypertrophic cardiomyopathy 1	RCV000554227	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	tagSNP	rs1555789900
Clinvar_Rec_11259	rs193922712	Likely pathogenic	Cardiomyopathy	RCV000030332	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs193922712
Clinvar_Rec_11260	rs370429139	Likely benign	Familial hypertrophic cardiomyopathy 1	RCV000465056	MedGen;OMIM	C3495498;192600	criteria provided, single submitter	tagSNP	rs370429139
Clinvar_Rec_11261	rs41289854	Likely benign	Bohring-Opitz syndrome	RCV000377241	MedGen;OMIM;Orphanet	C0796232;605039;ORPHA97297	criteria provided, single submitter	tagSNP	rs41289854
Clinvar_Rec_11262	rs552315106	Likely benign	Cardiovascular phenotype	RCV000246981	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs552315106
Clinvar_Rec_11263	rs34995247	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided;not specified	RCV000248085;RCV000375094;RCV000318116;RCV000857759;RCV000780739	MedGen;MedGen;SNOMED CT;Orphanet;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34995247
Clinvar_Rec_11264	rs930264754	Uncertain significance	Gluthathione synthetase deficiency	RCV000547918	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0398746;266130;ORPHA32;234589002	criteria provided, single submitter	tagSNP	rs930264754
Clinvar_Rec_11265	rs575728230	Conflicting interpretations of pathogenicity	Gluthathione synthetase deficiency;not specified	RCV000391180;RCV000603494	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0398746;266130;ORPHA32;234589002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs575728230
Clinvar_Rec_11266	rs74315389	Pathogenic	Symphalangism, proximal, 1B	RCV000008897	MedGen;OMIM	C3809104;615298	no assertion criteria provided	tagSNP	rs74315389
Clinvar_Rec_11267	rs190300765	Likely benign	Multicentric carpo-tarsal osteolysis with or without nephropathy	RCV000370422	MedGen;OMIM;Orphanet	C2674705;166300;ORPHA2774	criteria provided, single submitter	tagSNP	rs190300765
Clinvar_Rec_11268	rs780982442	Uncertain significance	Multicentric carpo-tarsal osteolysis with or without nephropathy	RCV000316781	MedGen;OMIM;Orphanet	C2674705;166300;ORPHA2774	criteria provided, single submitter	tagSNP	rs780982442
Clinvar_Rec_11269	rs730880253	Uncertain significance	Left ventricular noncompaction cardiomyopathy;not provided	RCV000157588;RCV000489365	Human Phenotype Ontology;MedGen	HP;C4021133;MedGen	criteria provided, single submitter	tagSNP	rs730880253
Clinvar_Rec_11270	rs767514641	Uncertain significance	Hypertrophic cardiomyopathy	RCV000231029	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs767514641
Clinvar_Rec_11271	rs1272379812	Uncertain significance	Hypertrophic cardiomyopathy	RCV000690409	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1272379812
Clinvar_Rec_11272	rs1568724014	Pathogenic	Maturity-onset diabetes of the young, type 1	RCV000754819	MedGen;OMIM	C1852093;125850	criteria provided, single submitter	tagSNP	rs1568724014
Clinvar_Rec_11273	rs137853336	Conflicting interpretations of pathogenicity	Maturity-onset diabetes of the young, type 1;not provided	RCV000009792;RCV000711955	MedGen;OMIM	C1852093;125850;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137853336
Clinvar_Rec_11274	rs114764820	Likely benign	Hyperinsulinism, Dominant;Maturity onset diabetes mellitus in young	RCV000398865;RCV000335279	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239341;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs114764820
Clinvar_Rec_11275	rs886056690	Uncertain significance	Hyperinsulinism, Dominant;Maturity onset diabetes mellitus in young	RCV000283806;RCV000378297	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	CN239341;Human Phenotype Ontology;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs886056690
Clinvar_Rec_11276	rs199422327	Likely pathogenic	Severe combined immunodeficiency due to ADA deficiency	RCV000002035	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277	criteria provided, single submitter	tagSNP	rs199422327
Clinvar_Rec_11277	rs79281338	Pathogenic/Likely pathogenic	Severe combined immunodeficiency due to ADA deficiency	RCV000215113	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277	criteria provided, multiple submitters, no conflicts	tagSNP	rs79281338
Clinvar_Rec_11278	rs778809577	Pathogenic/Likely pathogenic	Severe combined immunodeficiency due to ADA deficiency	RCV000538818	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277	criteria provided, multiple submitters, no conflicts	tagSNP	rs778809577
Clinvar_Rec_11279	rs121908729	Pathogenic	Partial adenosine deaminase deficiency;Severe combined immunodeficiency due to ADA deficiency	RCV000002057;RCV000059113	MedGen;OMIM;Orphanet	C1863239;MedGen;102700;ORPHA277	no assertion criteria provided	tagSNP	rs121908729
Clinvar_Rec_11280	rs375562913	Likely benign	Severe combined immunodeficiency due to ADA deficiency	RCV000644513	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277	criteria provided, single submitter	tagSNP	rs375562913
Clinvar_Rec_11281	rs886056707	Uncertain significance	Severe combined immunodeficiency due to ADA deficiency	RCV000286483	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277	criteria provided, single submitter	tagSNP	rs886056707
Clinvar_Rec_11282	rs142456343	Conflicting interpretations of pathogenicity	Severe combined immunodeficiency due to ADA deficiency;not provided	RCV000377525;RCV000875715	MedGen;OMIM;Orphanet	C1863236;102700;ORPHA277;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142456343
Clinvar_Rec_11283	rs886037919	Pathogenic	Vascular malformation, primary intraosseous	RCV000240837	MedGen;OMIM;Orphanet	C1847197;606893;ORPHA140436	no assertion criteria provided	tagSNP	rs886037919
Clinvar_Rec_11284	rs778452693	Likely benign	Cardiovascular phenotype;not provided	RCV000249742;RCV000872482	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs778452693
Clinvar_Rec_11285	rs707507	Benign	Arterial tortuosity syndrome	RCV000318794	MedGen;OMIM;Orphanet	C1859726;208050;ORPHA3342	criteria provided, single submitter	tagSNP	rs707507
Clinvar_Rec_11286	rs397957165	Uncertain significance	Periventricular Heterotopia	RCV000303805	MedGen	C2678104	criteria provided, single submitter	tagSNP	rs397957165
Clinvar_Rec_11287	rs397957165	Likely benign	Periventricular Heterotopia	RCV000362044	MedGen	C2678104	criteria provided, single submitter	tagSNP	rs397957165
Clinvar_Rec_11288	rs397957165	Uncertain significance	Periventricular Heterotopia	RCV000267324	MedGen	C2678104	criteria provided, single submitter	tagSNP	rs397957165
Clinvar_Rec_11289	rs34467662	Benign	Epileptic encephalopathy, early infantile, 26;not provided;not specified	RCV000544909;RCV000712111;RCV000436736	MedGen;OMIM	C4015119;616056;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34467662
Clinvar_Rec_11290	rs145421532	Uncertain significance	Epileptic encephalopathy, early infantile, 26	RCV000548517	MedGen;OMIM	C4015119;616056	criteria provided, single submitter	tagSNP	rs145421532
Clinvar_Rec_11291	rs959316981	Likely pathogenic	Epileptic encephalopathy;Epileptic encephalopathy, early infantile, 26	RCV000782162;RCV000656399	Human Phenotype Ontology;MedGen;OMIM	HP;C0543888;MedGen;616056	criteria provided, multiple submitters, no conflicts	tagSNP	rs959316981
Clinvar_Rec_11292	rs149430070	Conflicting interpretations of pathogenicity	SALL4-Related Spectrum Disorders;not provided	RCV000361289;RCV000358874	MedGen	CN239401;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149430070
Clinvar_Rec_11293	rs552552032	Uncertain significance	Infantile hypercalcemia	RCV000270587	Human Phenotype Ontology;MedGen	HP;C0475732	criteria provided, single submitter	tagSNP	rs552552032
Clinvar_Rec_11294	rs73135773	Uncertain significance	Infantile hypercalcemia	RCV000274219	Human Phenotype Ontology;MedGen	HP;C0475732	criteria provided, single submitter	tagSNP	rs73135773
Clinvar_Rec_11295	rs1555868362	Pathogenic	Inborn genetic diseases	RCV000624669	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555868362
Clinvar_Rec_11296	rs749390209	Uncertain significance	Abnormality of the rectum;Aganglionic megacolon	RCV000626612;RCV000626612	Human Phenotype Ontology;MedGen;MedGen	HP;C0266210;Human Phenotype Ontology;C0025160	criteria provided, single submitter	tagSNP	rs749390209
Clinvar_Rec_11297	rs773779627	Likely pathogenic	Waardenburg syndrome type 4B	RCV000721957	MedGen;OMIM	C2750457;613265	no assertion criteria provided	tagSNP	rs773779627
Clinvar_Rec_11298	rs977075341	Likely pathogenic	Waardenburg syndrome type 4B	RCV000659493	MedGen;OMIM	C2750457;613265	criteria provided, single submitter	tagSNP	rs977075341
Clinvar_Rec_11299	rs267606778	Pathogenic	Waardenburg syndrome type 4B	RCV000018130	MedGen;OMIM	C2750457;613265	no assertion criteria provided	tagSNP	rs267606778
Clinvar_Rec_11300	rs11570344	Benign/Likely benign	Congenital central hypoventilation;Hirschsprung Disease, Dominant;Hirschsprung disease;Waardenburg syndrome;Waardenburg syndrome type 4B;not provided;not specified	RCV000018125;RCV000392916;RCV000736046;RCV000337490;RCV000990323;RCV000899895;RCV000218370	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM	C1275808;209880;ORPHA661;399040002;MedGen;C0019569;ORPHA388;204739008;MedGen;ORPHA3440;47434006;MedGen;613265;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11570344
Clinvar_Rec_11301	rs61737042	Benign/Likely benign	Seizures;not provided;not specified	RCV000717692;RCV000471235;RCV000326133	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61737042
Clinvar_Rec_11302	rs1555840462	Likely benign	Autosomal dominant nocturnal frontal lobe epilepsy	RCV000654349	MedGen;Orphanet	C3696898;ORPHA98784	criteria provided, single submitter	tagSNP	rs1555840462
Clinvar_Rec_11303	rs12481145	Benign	KCNQ2-Related Disorders	RCV000358220	MedGen	CN169299	criteria provided, single submitter	LD derived	rs34690549
Clinvar_Rec_11304	rs759258191	Uncertain significance	Early infantile epileptic encephalopathy	RCV000560375	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs759258191
Clinvar_Rec_11305	rs1568862485	Uncertain significance	Early infantile epileptic encephalopathy	RCV000704806	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1568862485
Clinvar_Rec_11306	rs796052655	Pathogenic	Early infantile epileptic encephalopathy 7;not provided	RCV000678194;RCV000187919	MedGen;OMIM;Orphanet	C3150986;613720;ORPHA439218;MedGen	criteria provided, single submitter	tagSNP	rs796052655
Clinvar_Rec_11307	rs117067974	Conflicting interpretations of pathogenicity	Benign familial neonatal seizures 1;KCNQ2-Related Disorders;Seizures;not provided;not specified	RCV000020972;RCV000363201;RCV000717320;RCV000465560;RCV000117341	MedGen;OMIM;MedGen	C3149074;121200;MedGen;C0036572;MedGen	criteria provided, conflicting interpretations	tagSNP	rs117067974
Clinvar_Rec_11308	rs1057516109	Pathogenic	Early infantile epileptic encephalopathy 7	RCV000678163	MedGen;OMIM;Orphanet	C3150986;613720;ORPHA439218	no assertion criteria provided	tagSNP	rs1057516109
Clinvar_Rec_11309	rs1568927747	Pathogenic	Early infantile epileptic encephalopathy	RCV000696216	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1568927747
Clinvar_Rec_11310	rs118192203	Pathogenic/Likely pathogenic	Benign familial neonatal seizures 1;Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 7;not provided	RCV000990336;RCV000234346;RCV000178400;RCV000187866	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3149074;121200;MedGen;ORPHA1934;MedGen;613720;ORPHA439218;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118192203
Clinvar_Rec_11311	rs1568994522	Likely pathogenic	Epileptic encephalopathy, early infantile, 33	RCV000700489	MedGen;OMIM	C4225337;616409	criteria provided, single submitter	tagSNP	rs1568994522
Clinvar_Rec_11312	rs553188193	Likely benign	Neuronal Ceroid-Lipofuscinosis, Recessive;not specified	RCV000265199;RCV000187334	MedGen	CN239323;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs541118679
Clinvar_Rec_11313	rs919917378	Uncertain significance	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000768303;RCV000768303	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs919917378
Clinvar_Rec_11314	rs6010616	Benign	Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	RCV000531037;RCV000531037	MedGen;OMIM;OMIM	C3554656;615190;MedGen;616373	criteria provided, single submitter	tagSNP	rs6010616
Clinvar_Rec_11315	rs572399772	Uncertain significance	Autosomal dominant nocturnal frontal lobe epilepsy	RCV000549537	MedGen;Orphanet	C3696898;ORPHA98784	criteria provided, single submitter	LD derived	rs200527878
Clinvar_Rec_11316	rs11554629	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000371743	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs11554629
Clinvar_Rec_11317	rs11554629	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000312433	MedGen	CN239323	criteria provided, single submitter	LD derived	rs531246320
Clinvar_Rec_11318	rs11554629	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000396702	MedGen	CN239323	criteria provided, single submitter	LD derived	rs531246320
Clinvar_Rec_11319	rs11554629	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000352876	MedGen	CN239323	criteria provided, single submitter	LD derived	rs3206771
Clinvar_Rec_11320	rs11554629	Benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000332327	MedGen	CN239323	criteria provided, single submitter	LD derived	rs3810500
Clinvar_Rec_11321	rs11554629	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000389099	MedGen	CN239323	criteria provided, single submitter	LD derived	rs3810500
Clinvar_Rec_11322	rs375184240	Benign/Likely benign	Retinitis Pigmentosa, Dominant;not provided	RCV000301932;RCV000973799	MedGen	CN239354;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201704766
Clinvar_Rec_11323	rs773239629	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000403184	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs773239629
Clinvar_Rec_11324	rs749474036	Uncertain significance	Glucocorticoid Deficiency	RCV000261515	MedGen	C1955741	criteria provided, single submitter	tagSNP	rs749474036
Clinvar_Rec_11325	rs116642019	Benign/Likely benign	Glucocorticoid Deficiency;not provided	RCV000354030;RCV000889295	MedGen	C1955741;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75858661
Clinvar_Rec_11326	rs61752550	Uncertain significance	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset	RCV000697536;RCV000697536	MedGen;OMIM;OMIM	C4479313;617389;MedGen;615530	criteria provided, single submitter	tagSNP	rs61752550
Clinvar_Rec_11327	rs61752550	Uncertain significance	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset	RCV000698606;RCV000698606	MedGen;OMIM;OMIM	C4479313;617389;MedGen;615530	criteria provided, single submitter	tagSNP	rs61752550
Clinvar_Rec_11328	rs1057524877	Pathogenic	Epileptic encephalopathy, early infantile, 53	RCV000445434	MedGen;OMIM	C4479313;617389	no assertion criteria provided	tagSNP	rs1057524877
Clinvar_Rec_11329	rs1057524878	Pathogenic	Epileptic encephalopathy, early infantile, 53	RCV000445520	MedGen;OMIM	C4479313;617389	no assertion criteria provided	tagSNP	rs1057524878
Clinvar_Rec_11330	rs530554373	Likely benign	Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome	RCV000365248;RCV000265999;RCV000310535	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C0022387;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs530554373
Clinvar_Rec_11331	rs76568182	Likely benign	Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome	RCV000392389;RCV000283759;RCV000347786	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C0022387;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs76568182
Clinvar_Rec_11332	rs745925445	Uncertain significance	Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome;not specified	RCV000325106;RCV000270067;RCV000383873;RCV000603464	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C0022387;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs745925445
Clinvar_Rec_11333	rs78250687	Uncertain significance	Jervell and Lange-Nielsen syndrome;Long QT syndrome;Romano-Ward syndrome	RCV000279507;RCV000334504;RCV000379724	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT	C0022387;ORPHA90647;373905003;MeSH;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs78250687
Clinvar_Rec_11334	rs78335539	Benign	Familial platelet disorder with associated myeloid malignancy	RCV000329406	MedGen;OMIM;Orphanet	C1832388;601399;ORPHA71290	criteria provided, single submitter	tagSNP	rs78335539
Clinvar_Rec_11335	rs78335539	Benign	Familial platelet disorder with associated myeloid malignancy	RCV000278568	MedGen;OMIM;Orphanet	C1832388;601399;ORPHA71290	criteria provided, single submitter	LD derived	rs74950917
Clinvar_Rec_11336	rs886057030	Uncertain significance	Familial platelet disorder with associated myeloid malignancy	RCV000381761	MedGen;OMIM;Orphanet	C1832388;601399;ORPHA71290	criteria provided, single submitter	tagSNP	rs886057030
Clinvar_Rec_11337	rs915447247	Uncertain significance	Familial platelet disorder with associated myeloid malignancy	RCV000639514	MedGen;OMIM;Orphanet	C1832388;601399;ORPHA71290	criteria provided, single submitter	tagSNP	rs915447247
Clinvar_Rec_11338	rs34285668	drug response	anthracyclines and related substances response - Toxicity/ADR	RCV000211217	MedGen	CN236469	reviewed by expert panel	LD derived	rs1056892
Clinvar_Rec_11339	rs150263699	Conflicting interpretations of pathogenicity	Holocarboxylase synthetase deficiency;not provided	RCV000356386;RCV000941881	MedGen;OMIM;Orphanet	C0268581;253270;ORPHA79242;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150263699
Clinvar_Rec_11340	rs367984873	Uncertain significance	Mental retardation, autosomal dominant 7;not specified	RCV000814785;RCV000494339	MedGen;OMIM;Orphanet	C3279839;614104;ORPHA464306;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs367984873
Clinvar_Rec_11341	rs56332316	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000343708	MedGen	CN239439	criteria provided, single submitter	LD derived	rs56369547
Clinvar_Rec_11342	rs587777059	Pathogenic	Kartagener syndrome;Primary ciliary dyskinesia 24	RCV000190927;RCV000057511	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C4551906;244400;ORPHA98861;42402006;MedGen;615481	no assertion criteria provided	tagSNP	rs587777059
Clinvar_Rec_11343	rs144221071	Uncertain significance	Primary ciliary dyskinesia	RCV000459962	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs144221071
Clinvar_Rec_11344	rs1555871188	Pathogenic	Classic homocystinuria;not provided	RCV000984247;RCV000593857	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394;MedGen	criteria provided, single submitter	tagSNP	rs1555871188
Clinvar_Rec_11345	rs143225442	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000244998;RCV000471233;RCV000196475	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143225442
Clinvar_Rec_11346	rs121964965	Pathogenic	Homocystinuria, pyridoxine-responsive	RCV000000143	MedGen	C3502110	no assertion criteria provided	tagSNP	rs121964965
Clinvar_Rec_11347	rs775992753	Pathogenic/Likely pathogenic	Classic homocystinuria;not provided	RCV000475484;RCV000196859	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775992753
Clinvar_Rec_11348	rs74315441	Pathogenic	Cataract, autosomal dominant	RCV000018472	MedGen;OMIM	C1858679;604219	no assertion criteria provided	tagSNP	rs74315441
Clinvar_Rec_11349	rs397515623	Pathogenic	Cataract, autosomal dominant;Congenital cataract	RCV000059326;RCV000490766	MedGen;OMIM;MedGen;SNOMED CT	C1858679;604219;Human Phenotype Ontology;C0009691;79410001	criteria provided, single submitter	tagSNP	rs397515623
Clinvar_Rec_11350	rs1114167311	Likely pathogenic	Congenital cataract	RCV000490785	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	no assertion criteria provided	tagSNP	rs1114167311
Clinvar_Rec_11351	rs587087	Benign	Epileptic encephalopathy, early infantile, 30;Seizures;not provided	RCV000990352;RCV000715234;RCV000713289	MedGen;OMIM;MedGen	C4225360;616341;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs430554
Clinvar_Rec_11352	rs201955244	Benign/Likely benign	Seizures;not provided	RCV000718645;RCV000535373	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201955244
Clinvar_Rec_11353	rs776741814	Likely benign	Seizures	RCV000720546	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs776741814
Clinvar_Rec_11354	rs761262141	Benign	Epileptic encephalopathy, early infantile, 30	RCV000653186	MedGen;OMIM	C4225360;616341	criteria provided, single submitter	tagSNP	rs761262141
Clinvar_Rec_11355	rs746408860	Uncertain significance	Epileptic encephalopathy, early infantile, 30	RCV000653190	MedGen;OMIM	C4225360;616341	criteria provided, single submitter	tagSNP	rs746408860
Clinvar_Rec_11356	rs146810389	Uncertain significance	Polyglandular autoimmune syndrome, type 1;not specified	RCV000525346;RCV000780825	MedGen;OMIM;Orphanet;SNOMED CT	C0085859;240300;ORPHA3453;11244009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146810389
Clinvar_Rec_11357	rs121434255	Pathogenic	Polyglandular autoimmune syndrome, type 1	RCV000003471	MedGen;OMIM;Orphanet;SNOMED CT	C0085859;240300;ORPHA3453;11244009	no assertion criteria provided	tagSNP	rs121434255
Clinvar_Rec_11358	rs61737072	Benign	Polyglandular autoimmune syndrome, type 1;not provided;not specified	RCV000029305;RCV000710492;RCV000116294	MedGen;OMIM;Orphanet;SNOMED CT	C0085859;240300;ORPHA3453;11244009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61737072
Clinvar_Rec_11359	rs547610646	Pathogenic	Retinal dystrophy	RCV001073670	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	criteria provided, single submitter	LD derived	rs555164150
Clinvar_Rec_11360	rs782540538	Pathogenic	Deafness, autosomal recessive 98;ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS	RCV000030851;RCV000721118	MedGen;OMIM	C3553932;614861;na	no assertion criteria provided	tagSNP	rs782540538
Clinvar_Rec_11361	rs147238010	Uncertain significance	Leukocyte adhesion deficiency	RCV000403670	MedGen;Orphanet	C0272187;ORPHA2968	criteria provided, multiple submitters, no conflicts	tagSNP	rs147238010
Clinvar_Rec_11362	rs564316030	Likely benign	Collagen VI-related myopathy	RCV000292742	MedGen	CN117976	criteria provided, single submitter	LD derived	rs568728524
Clinvar_Rec_11363	rs766478019	Uncertain significance	Bethlem myopathy 1	RCV000529066	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs766478019
Clinvar_Rec_11364	rs140890046	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;Myosclerosis;not provided;not specified	RCV000381103;RCV000289005;RCV000725254;RCV000387663	MedGen;Orphanet	CN117976;MedGen;ORPHA289380;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140890046
Clinvar_Rec_11365	rs148029276	Uncertain significance	Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not provided	RCV000551936;RCV000339179;RCV000286457;RCV000513122	MedGen;OMIM;Orphanet	CN029274;158810;MedGen;ORPHA289380;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148029276
Clinvar_Rec_11366	rs538433909	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Myosclerosis	RCV000366962;RCV000312136;RCV000277206	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN117976;MedGen;229100;ORPHA51208;59761008;MedGen;ORPHA289380	criteria provided, conflicting interpretations	tagSNP	rs538433909
Clinvar_Rec_11367	rs376603123	Uncertain significance	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	RCV000384995	MedGen;OMIM;Orphanet;SNOMED CT	C0268609;229100;ORPHA51208;59761008	criteria provided, single submitter	tagSNP	rs376603123
Clinvar_Rec_11368	rs182694054	Conflicting interpretations of pathogenicity	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000380473;RCV000440939	MedGen	CN239360;MedGen	criteria provided, conflicting interpretations	LD derived	rs145119952
Clinvar_Rec_11369	rs62224222	Conflicting interpretations of pathogenicity	Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified	RCV000395582;RCV000425035;RCV000147124	MedGen	CN239360;MedGen	criteria provided, conflicting interpretations	tagSNP	rs62224222
Clinvar_Rec_11370	rs771286324	Uncertain significance	Microcephalic Osteodysplastic Primordial Dwarfism	RCV000395238	MedGen	CN239360	criteria provided, single submitter	tagSNP	rs771286324
Clinvar_Rec_11371	rs757858684	Conflicting interpretations of pathogenicity	Microcephalic Osteodysplastic Primordial Dwarfism;not specified	RCV000360772;RCV000503719	MedGen	CN239360;MedGen	criteria provided, conflicting interpretations	tagSNP	rs757858684
Clinvar_Rec_11372	rs1057518745	Pathogenic	Immunodeficiency 51	RCV000412660	MedGen;OMIM	C4310803;613953	criteria provided, single submitter	tagSNP	rs1057518745
Clinvar_Rec_11373	rs752964419	Uncertain significance	Familial Candidiasis, Recessive	RCV000283852	MedGen	CN239217	criteria provided, single submitter	tagSNP	rs752964419
Clinvar_Rec_11374	rs576803215	Likely benign	Familial Candidiasis, Recessive	RCV000364706	MedGen	CN239217	criteria provided, single submitter	tagSNP	rs576803215
Clinvar_Rec_11375	rs576803215	Likely benign	Familial Candidiasis, Recessive	RCV000397750	MedGen	CN239217	criteria provided, single submitter	LD derived	rs543545127
Clinvar_Rec_11376	rs960845017	Likely benign	Polyarteritis nodosa, childhoood-onset	RCV000652060	MedGen;OMIM;Orphanet	C3887654;615688;ORPHA404553	criteria provided, single submitter	tagSNP	rs960845017
Clinvar_Rec_11377	rs456551	Benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000291367	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs456551
Clinvar_Rec_11378	rs564817781	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000318493	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs188986907
Clinvar_Rec_11379	rs146559223	Likely pathogenic	Meier-gorlin syndrome 7	RCV000239581	MedGen;OMIM	C4310738;617063	criteria provided, single submitter	tagSNP	rs146559223
Clinvar_Rec_11380	rs373839226	Uncertain significance	Primary dilated cardiomyopathy	RCV000628808	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs373839226
Clinvar_Rec_11381	rs549702955	Uncertain significance	Cardiovascular phenotype;Primary dilated cardiomyopathy	RCV000618377;RCV001053449	MedGen;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	CN230736;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, multiple submitters, no conflicts	LD derived	rs543290126
Clinvar_Rec_11382	rs371153395	Likely benign	Cardiovascular phenotype	RCV000243706	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs371153395
Clinvar_Rec_11383	rs35695986	Benign	Cardiovascular phenotype;not provided;not specified	RCV000621481;RCV000232771;RCV000605549	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35695986
Clinvar_Rec_11384	rs35695986	Likely benign	Cardiovascular phenotype;not provided	RCV000247540;RCV000842503	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35695986
Clinvar_Rec_11385	rs5992495	Benign	Cardiovascular phenotype;not specified	RCV000247634;RCV000428455	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5992495
Clinvar_Rec_11386	rs200690286	Uncertain significance	Adenylosuccinate lyase deficiency;not provided	RCV000634536;RCV000432959	MedGen;OMIM;Orphanet;SNOMED CT	C0268126;103050;ORPHA46;15285008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75953451
Clinvar_Rec_11387	rs746720991	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000310809	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs746720991
Clinvar_Rec_11388	rs147244947	Benign/Likely benign	Rubinstein-Taybi syndrome 1;not provided	RCV000363234;RCV000648401	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147244947
Clinvar_Rec_11389	rs147244947	Benign/Likely benign	Rubinstein-Taybi syndrome 1;not provided	RCV000326933;RCV000648398	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs150941761
Clinvar_Rec_11390	rs199901345	Uncertain significance	Rubinstein-Taybi syndrome 1	RCV000372742	MedGen;OMIM;Orphanet	C4551859;180849;ORPHA353277	criteria provided, single submitter	tagSNP	rs199901345
Clinvar_Rec_11391	rs133375	Benign	Alpha-N-acetylgalactosaminidase deficiency type 2;not provided	RCV000399431;RCV000842782	MedGen;OMIM;Orphanet	C1836522;609242;ORPHA79280;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs133375
Clinvar_Rec_11392	rs758833609	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33;Mitochondrial diseases	RCV000709998;RCV000680372	MedGen;OMIM;Orphanet	C4748840;618253;MedGen;ORPHA68380	no assertion criteria provided	tagSNP	rs758833609
Clinvar_Rec_11393	rs193920984	Uncertain significance	Malignant tumor of prostate	RCV000149299	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920984
Clinvar_Rec_11394	rs570266965	Uncertain significance	Renal hypodysplasia/aplasia 1	RCV000281110	MedGen;OMIM	C1619700;191830	criteria provided, single submitter	tagSNP	rs570266965
Clinvar_Rec_11395	rs111385831	Likely benign	Congenital disorder of glycosylation	RCV000376002	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs76848348
Clinvar_Rec_11396	rs538684360	Uncertain significance	Congenital disorder of glycosylation	RCV000342903	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs147784926
Clinvar_Rec_11397	rs724159975	Pathogenic	Microcephaly and chorioretinopathy, autosomal recessive, 1	RCV000149798	MedGen;OMIM	C3278481;251270	no assertion criteria provided	tagSNP	rs724159975
Clinvar_Rec_11398	rs1064792856	Benign	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208715	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs1064792856
Clinvar_Rec_11399	rs121913039	Likely pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided	RCV000018143;RCV000199543	MedGen;OMIM	C4551995;603041;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121913039
Clinvar_Rec_11400	rs77427356	Benign/Likely benign	Fatal Infantile Cardioencephalomyopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial complex IV deficiency;not provided;not specified	RCV000370305;RCV000365573;RCV000310916;RCV000676290;RCV000128014	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	CN239235;MedGen;603041;MedGen;220110;ORPHA254905;67434000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs75485962
Clinvar_Rec_11401	rs1064792861	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208638	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs1064792861
Clinvar_Rec_11402	rs1064792860	Pathogenic	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	RCV000208694	MedGen;OMIM	C4551995;603041	no assertion criteria provided	tagSNP	rs1064792860
Clinvar_Rec_11403	rs199476391	Conflicting interpretations of pathogenicity	Metachromatic leukodystrophy;not provided	RCV000150058;RCV000058946	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199476391
Clinvar_Rec_11404	rs909454884	Uncertain significance	Metachromatic leukodystrophy	RCV000666219	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs909454884
Clinvar_Rec_11405	rs530240325	Likely benign	History of neurodevelopmental disorder	RCV000715125	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs530240325
Clinvar_Rec_11406	rs4927611	Benign/Likely benign	Congenital hypothyroidism;Deficiency of iodide peroxidase;not specified	RCV000285484;RCV000604358;RCV000248792	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;SNOMED CT	HP;C0010308;ORPHA442;190268003;MedGen;274500;124204003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4927611
Clinvar_Rec_11407	rs114401108	Uncertain significance	Congenital hypothyroidism	RCV000363090	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	LD derived	rs17091745
Clinvar_Rec_11408	rs1863134	Benign	Anterior segment dysgenesis 7;not provided;not specified	RCV000540181;RCV000828291;RCV000248542	MedGen;OMIM;Orphanet	C3151617;269400;ORPHA289499;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1863134
Clinvar_Rec_11409	rs878853045	Likely pathogenic	Mental retardation, autosomal dominant 39;not provided	RCV000754090;RCV000224698	MedGen;OMIM	C4225296;616521;MedGen	criteria provided, single submitter	tagSNP	rs878853045
Clinvar_Rec_11410	rs6722205	Likely benign	Maturity onset diabetes mellitus in young	RCV000349725	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs6722205
Clinvar_Rec_11411	rs546979072	Uncertain significance	Acute Recurrent Myoglobinuria	RCV000312249	MedGen	CN239190	criteria provided, single submitter	tagSNP	rs546979072
Clinvar_Rec_11412	rs78819957	Likely benign	Acute Recurrent Myoglobinuria	RCV000327091	MedGen	CN239190	criteria provided, single submitter	LD derived	rs74564998
Clinvar_Rec_11413	rs78819957	Likely benign	Acute Recurrent Myoglobinuria	RCV000307932	MedGen	CN239190	criteria provided, single submitter	LD derived	rs77333662
Clinvar_Rec_11414	rs780371731	Uncertain significance	Myasthenic syndrome, congenital, 20, presynaptic;Neuronopathy, distal hereditary motor, type viia	RCV000693252;RCV000693252	MedGen;OMIM;OMIM	C4310694;617143;MedGen;158580	criteria provided, single submitter	tagSNP	rs780371731
Clinvar_Rec_11415	rs116484180	Likely benign	Hypohidrotic Ectodermal Dysplasia, Dominant	RCV000261676	MedGen	CN239335	criteria provided, single submitter	LD derived	rs75703116
Clinvar_Rec_11416	rs61761321	Benign/Likely benign	Hypohidrotic Ectodermal Dysplasia, Dominant;not provided;not specified	RCV000336113;RCV000639391;RCV000247995	MedGen	CN239335;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61761321
Clinvar_Rec_11417	rs752810615	Uncertain significance	Autosomal dominant hypohidrotic ectodermal dysplasia;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	RCV000691089;RCV000691089	MedGen;OMIM;OMIM;SNOMED CT	C3888065;129490;MedGen;224900;27025001	criteria provided, single submitter	tagSNP	rs752810615
Clinvar_Rec_11418	rs1558814135	Pathogenic	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	RCV000782363	MedGen;OMIM;SNOMED CT	C3887494;224900;27025001	no assertion criteria provided	tagSNP	rs1558814135
Clinvar_Rec_11419	rs886054751	Uncertain significance	Hypohidrotic Ectodermal Dysplasia, Dominant	RCV000267918	MedGen	CN239335	criteria provided, single submitter	tagSNP	rs886054751
Clinvar_Rec_11420	rs142985827	Conflicting interpretations of pathogenicity	Retinitis Pigmentosa, Recessive;not provided	RCV000289934;RCV000729320	MedGen	CN239466;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142985827
Clinvar_Rec_11421	rs996878	Likely benign	Pustular psoriasis, generalized	RCV000388188	MedGen;OMIM;Orphanet	C0343055;614204;ORPHA247353	criteria provided, single submitter	tagSNP	rs996878
Clinvar_Rec_11422	rs895412	Likely benign	Congenital hypothyroidism	RCV000300927	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	tagSNP	rs895412
Clinvar_Rec_11423	rs78802229	Uncertain significance	Congenital hypothyroidism	RCV000359275	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	tagSNP	rs78802229
Clinvar_Rec_11424	rs762019177	Uncertain significance	Congenital hypothyroidism	RCV000285127	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	tagSNP	rs762019177
Clinvar_Rec_11425	rs142296407	Benign/Likely benign	Holoprosencephaly sequence;not provided;not specified	RCV000398224;RCV000552345;RCV000180270	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142296407
Clinvar_Rec_11426	rs13008360	Benign/Likely benign	Holoprosencephaly sequence;not specified	RCV000269999;RCV000247310	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs13008360
Clinvar_Rec_11427	rs1455926606	Uncertain significance	Autosomal recessive centronuclear myopathy	RCV000695525	MedGen;OMIM;Orphanet;SNOMED CT	C0410204;255200;ORPHA169186;240081004	criteria provided, single submitter	tagSNP	rs1455926606
Clinvar_Rec_11428	rs72845960	Likely benign	Xeroderma pigmentosum	RCV000294126	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs1803541
Clinvar_Rec_11429	rs1799810	Benign/Likely benign	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not specified	RCV000298504;RCV000246100	MedGen;OMIM	C2674321;176860;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1799810
Clinvar_Rec_11430	rs767112991	Likely pathogenic	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	RCV000645701	MedGen;OMIM	C2674321;176860	criteria provided, single submitter	tagSNP	rs767112991
Clinvar_Rec_11431	rs121918154	Likely pathogenic	Thromboembolism;Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant	RCV000852227;RCV000000706	Human Phenotype Ontology;MedGen;OMIM	HP;C0040038;MedGen;176860	criteria provided, single submitter	tagSNP	rs121918154
Clinvar_Rec_11432	rs121918151	Pathogenic	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	RCV000000702	MedGen;OMIM	C2676759;612304	no assertion criteria provided	tagSNP	rs121918151
Clinvar_Rec_11433	rs5935	Benign/Likely benign	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not provided	RCV000233040;RCV000857827	MedGen;OMIM	C2674321;176860;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5935
Clinvar_Rec_11434	rs121918144	Pathogenic	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive	RCV000000695	MedGen;OMIM	C2676759;612304	no assertion criteria provided	tagSNP	rs121918144
Clinvar_Rec_11435	rs200731614	Conflicting interpretations of pathogenicity	Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant;not provided	RCV000405201;RCV000868698	MedGen;OMIM	C2674321;176860;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200731614
Clinvar_Rec_11436	rs1050115	Likely benign	Congenital lactase deficiency;Lactose intolerance	RCV000288729;RCV000382836	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0268179;223000;ORPHA53690;5388008;Human Phenotype Ontology;C0022951	criteria provided, single submitter	LD derived	rs140433552
Clinvar_Rec_11437	rs386833837	Likely pathogenic	Congenital lactase deficiency	RCV000049805	MedGen;OMIM;Orphanet;SNOMED CT	C0268179;223000;ORPHA53690;5388008	no assertion criteria provided	tagSNP	rs386833837
Clinvar_Rec_11438	rs730881212	Pathogenic	Mowat-Wilson syndrome	RCV000159495	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs730881212
Clinvar_Rec_11439	rs1408659659	Uncertain significance	Mowat-Wilson syndrome	RCV000703455	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152	criteria provided, single submitter	tagSNP	rs1408659659
Clinvar_Rec_11440	rs540345773	Conflicting interpretations of pathogenicity	Mowat-Wilson syndrome;not specified	RCV000768367;RCV000613809	MedGen;OMIM;Orphanet	C1856113;235730;ORPHA2152;MedGen	criteria provided, conflicting interpretations	tagSNP	rs540345773
Clinvar_Rec_11441	rs1559110260	Uncertain significance	History of neurodevelopmental disorder	RCV000719148	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1559110260
Clinvar_Rec_11442	rs913152551	Uncertain significance	Mental retardation, autosomal dominant 1	RCV000707249	MedGen;OMIM	C1969562;156200	criteria provided, single submitter	tagSNP	rs913152551
Clinvar_Rec_11443	rs147370143	Conflicting interpretations of pathogenicity	Disorders of Intracellular Cobalamin Metabolism;Methylmalonic acidemia;not provided	RCV000324144;RCV000378743;RCV000297142	MedGen;MeSH;MedGen;SNOMED CT	CN043592;Human Phenotype Ontology;C537358;C0268583;42393006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147370143
Clinvar_Rec_11444	rs144111552	Conflicting interpretations of pathogenicity	Disorders of Intracellular Cobalamin Metabolism;Methylmalonic acidemia;not specified	RCV000329546;RCV000384071;RCV000606686	MedGen;MeSH;MedGen;SNOMED CT	CN043592;Human Phenotype Ontology;C537358;C0268583;42393006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144111552
Clinvar_Rec_11445	rs3821324	Benign/Likely benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000278602;RCV000587641;RCV000174968	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3821324
Clinvar_Rec_11446	rs3821324	Benign/Likely benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000376623;RCV000586775;RCV000174645	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs118191309
Clinvar_Rec_11447	rs3821324	Benign/Likely benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000349303;RCV000590034;RCV000174628	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3732309
Clinvar_Rec_11448	rs3821324	Benign/Likely benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000290665;RCV000959538;RCV000350829	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs139636644
Clinvar_Rec_11449	rs3821324	Benign/Likely benign	Nemaline Myopathy, Recessive;not provided;not specified	RCV000350164;RCV000876783;RCV000402712	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149752325
Clinvar_Rec_11450	rs192569351	Uncertain significance	Nemaline myopathy 2	RCV000692815	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	LD derived	rs183321773
Clinvar_Rec_11451	rs1191429915	Likely pathogenic	Nemaline myopathy 2	RCV000664759	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1191429915
Clinvar_Rec_11452	rs1191429915	Likely pathogenic	Nemaline myopathy 2	RCV000667178	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1191429915
Clinvar_Rec_11453	rs761694639	Uncertain significance	Nemaline myopathy 2	RCV000672823	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs761694639
Clinvar_Rec_11454	rs201419564	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 2	RCV000324464;RCV000641310	MedGen;OMIM	CN239479;MedGen;256030	criteria provided, multiple submitters, no conflicts	tagSNP	rs201419564
Clinvar_Rec_11455	rs1553598770	Uncertain significance	Nemaline myopathy 2	RCV000667270	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1553598770
Clinvar_Rec_11456	rs1057515574	Pathogenic	Nemaline myopathy 2	RCV000015091	MedGen;OMIM	C1850569;256030	no assertion criteria provided	tagSNP	rs1057515574
Clinvar_Rec_11457	rs766321668	Uncertain significance	Nemaline Myopathy, Recessive;not provided	RCV000328354;RCV000519361	MedGen	CN239479;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766321668
Clinvar_Rec_11458	rs776739582	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided	RCV000299265;RCV000706899;RCV000520515	MedGen;OMIM	CN239479;MedGen;256030;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776739582
Clinvar_Rec_11459	rs1559547106	Uncertain significance	Nemaline myopathy 2	RCV000692953	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1559547106
Clinvar_Rec_11460	rs767584361	Uncertain significance	Nemaline myopathy 2;not provided	RCV000698139;RCV000523984	MedGen;OMIM	C1850569;256030;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs767584361
Clinvar_Rec_11461	rs767772838	Likely pathogenic	Nemaline myopathy 2	RCV000669925	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs767772838
Clinvar_Rec_11462	rs1553696371	Uncertain significance	Nemaline myopathy 2	RCV000668300	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1553696371
Clinvar_Rec_11463	rs777819332	Likely pathogenic	Nemaline myopathy	RCV000780532	MedGen;Orphanet;SNOMED CT	C0206157;ORPHA607;75072002	criteria provided, single submitter	tagSNP	rs777819332
Clinvar_Rec_11464	rs111517514	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 2	RCV000396509;RCV000691644	MedGen;OMIM	CN239479;MedGen;256030	criteria provided, multiple submitters, no conflicts	tagSNP	rs111517514
Clinvar_Rec_11465	rs111517514	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 2	RCV000283326;RCV000814313	MedGen;OMIM	CN239479;MedGen;256030	criteria provided, multiple submitters, no conflicts	LD derived	rs201337732
Clinvar_Rec_11466	rs755153044	Uncertain significance	Inborn genetic diseases	RCV000623207	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs755153044
Clinvar_Rec_11467	rs200056050	Uncertain significance	Nemaline myopathy 2	RCV000532800	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs200056050
Clinvar_Rec_11468	rs1553757097	Likely pathogenic	Nemaline myopathy 2	RCV000674627	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1553757097
Clinvar_Rec_11469	rs797045735	Pathogenic	Nemaline myopathy 2, autosomal recessive	RCV000195279	MedGen	CN187052	criteria provided, single submitter	tagSNP	rs797045735
Clinvar_Rec_11470	rs1553787578	Uncertain significance	Nemaline myopathy 2	RCV000542429	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1553787578
Clinvar_Rec_11471	rs767425744	Uncertain significance	Nemaline myopathy 2	RCV000538597	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs767425744
Clinvar_Rec_11472	rs1553875421	Pathogenic	Nemaline myopathy 2	RCV000532067	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1553875421
Clinvar_Rec_11473	rs199789085	Conflicting interpretations of pathogenicity	Nemaline Myopathy, Recessive;not provided;not specified	RCV000311737;RCV000641500;RCV000517081	MedGen	CN239479;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199789085
Clinvar_Rec_11474	rs1560628791	Uncertain significance	Nemaline myopathy 2	RCV000687797	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs1560628791
Clinvar_Rec_11475	rs183321773	Uncertain significance	Nemaline myopathy 2	RCV000692815	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs183321773
Clinvar_Rec_11476	rs6709886	Likely benign	Nemaline myopathy 2;not provided	RCV000667241;RCV000873802	MedGen;OMIM	C1850569;256030;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6709886
Clinvar_Rec_11477	rs760643814	Uncertain significance	Nemaline myopathy 2	RCV000555245	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs760643814
Clinvar_Rec_11478	rs377015178	Uncertain significance	Nemaline myopathy 2	RCV000539369	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs377015178
Clinvar_Rec_11479	rs563691738	Conflicting interpretations of pathogenicity	Nemaline Myopathy, Recessive;not provided	RCV000394481;RCV000953915	MedGen	CN239479;MedGen	criteria provided, conflicting interpretations	LD derived	rs543961404
Clinvar_Rec_11480	rs199766131	Uncertain significance	Nemaline myopathy 2	RCV000694361	MedGen;OMIM	C1850569;256030	criteria provided, single submitter	tagSNP	rs199766131
Clinvar_Rec_11481	rs201940342	Uncertain significance	Nemaline Myopathy, Recessive;Nemaline myopathy 2	RCV000373159;RCV000695781	MedGen;OMIM	CN239479;MedGen;256030	criteria provided, multiple submitters, no conflicts	tagSNP	rs201940342
Clinvar_Rec_11482	rs375894183	Conflicting interpretations of pathogenicity	Nemaline myopathy 2;not specified	RCV000707620;RCV000607020	MedGen;OMIM	C1850569;256030;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375894183
Clinvar_Rec_11483	rs199969138	Conflicting interpretations of pathogenicity	Nemaline Myopathy, Recessive;not provided;not specified	RCV000331941;RCV000527459;RCV000427107	MedGen	CN239479;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199969138
Clinvar_Rec_11484	rs374390581	Uncertain significance	Nemaline Myopathy, Recessive	RCV000396002	MedGen	CN239479	criteria provided, single submitter	tagSNP	rs374390581
Clinvar_Rec_11485	rs111709389	Likely benign	Episodic ataxia;Juvenile myoclonic epilepsy	RCV000376392;RCV000321696	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C1720189;ORPHA211062;MedGen;254770;ORPHA307	criteria provided, single submitter	LD derived	rs114659375
Clinvar_Rec_11486	rs111709389	Likely benign	Episodic ataxia;Juvenile myoclonic epilepsy	RCV000336818;RCV000302963	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C1720189;ORPHA211062;MedGen;254770;ORPHA307	criteria provided, single submitter	LD derived	rs114958916
Clinvar_Rec_11487	rs778742650	Uncertain significance	Episodic ataxia;Juvenile myoclonic epilepsy	RCV000389604;RCV000316446	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C1720189;ORPHA211062;MedGen;254770;ORPHA307	criteria provided, single submitter	tagSNP	rs778742650
Clinvar_Rec_11488	rs1060503173	Uncertain significance	Idiopathic generalized epilepsy	RCV000476220	MedGen;OMIM;SNOMED CT	C0270850;600669;36803009	criteria provided, single submitter	tagSNP	rs1060503173
Clinvar_Rec_11489	rs140171296	Uncertain significance	Inborn genetic diseases;Nemaline myopathy 2	RCV000624381;RCV000812080	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;256030	criteria provided, multiple submitters, no conflicts	LD derived	rs139125293
Clinvar_Rec_11490	rs886054970	Uncertain significance	Episodic ataxia;Juvenile myoclonic epilepsy	RCV000325118;RCV000270184	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet	HP;C1720189;ORPHA211062;MedGen;254770;ORPHA307	criteria provided, single submitter	tagSNP	rs886054970
Clinvar_Rec_11491	rs886054987	Uncertain significance	Progressive myositis ossificans	RCV000337914	MedGen;OMIM;Orphanet;SNOMED CT	C0016037;135100;ORPHA337;82725007	criteria provided, single submitter	tagSNP	rs886054987
Clinvar_Rec_11492	rs796052121	Likely pathogenic	Infantile liver failure syndrome 2;Short stature, optic nerve atrophy, and Pelger-Huet anomaly	RCV000186581;RCV000761305	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809651;616483;ORPHA440427;MedGen;614800;ORPHA391677	criteria provided, single submitter	tagSNP	rs796052121
Clinvar_Rec_11493	rs143212851	Likely pathogenic	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	RCV000626282	MedGen;OMIM;Orphanet	C3541319;614800;ORPHA391677	criteria provided, single submitter	tagSNP	rs143212851
Clinvar_Rec_11494	rs796065038	Pathogenic	Infantile liver failure syndrome 2	RCV000186580	MedGen;OMIM;Orphanet	C3809651;616483;ORPHA440427	no assertion criteria provided	tagSNP	rs796065038
Clinvar_Rec_11495	rs754137452	Pathogenic	Feingold syndrome 1;not provided	RCV000857320;RCV000657652	MedGen;OMIM;Orphanet	C4551774;164280;ORPHA391641;MedGen	criteria provided, single submitter	tagSNP	rs754137452
Clinvar_Rec_11496	rs74469198	Likely benign	Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome	RCV000402768;RCV000304822	MedGen;Orphanet;SNOMED CT;Orphanet	CN119432;ORPHA1515;254093009;MedGen;ORPHA1505	criteria provided, single submitter	tagSNP	rs74469198
Clinvar_Rec_11497	rs1191778	Benign	Cranioectodermal dysplasia;Cranioectodermal dysplasia 2;Short Rib Polydactyly Syndrome;not specified	RCV000403594;RCV000986592;RCV000351966;RCV000154141	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	CN119432;ORPHA1515;254093009;MedGen;613610;MedGen;ORPHA1505;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1191778
Clinvar_Rec_11498	rs145807061	Uncertain significance	Familial hypercholesterolemia 1	RCV000497160	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs145807061
Clinvar_Rec_11499	rs375275230	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000655101;RCV000655101	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs375275230
Clinvar_Rec_11500	rs767587977	Uncertain significance	Familial hypercholesterolemia 1	RCV000256263	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs767587977
Clinvar_Rec_11501	rs778195760	Uncertain significance	Familial hypercholesterolemia	RCV000775432	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs778195760
Clinvar_Rec_11502	rs762255105	Uncertain significance	Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia	RCV000296802;RCV000388755	MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT	C0745103;143890;397915002;MedGen;ORPHA426;60193003	criteria provided, single submitter	tagSNP	rs762255105
Clinvar_Rec_11503	rs61743512	Likely benign	Familial hypercholesterolemia	RCV000775443	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs61743512
Clinvar_Rec_11504	rs922450819	Uncertain significance	Familial hypercholesterolemia;Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000771647;RCV000821706;RCV000821706	MedGen;SNOMED CT;OMIM;OMIM	C0020445;398036000;MedGen;144010;MedGen;615558	criteria provided, multiple submitters, no conflicts	tagSNP	rs922450819
Clinvar_Rec_11505	rs775309715	Likely benign	Familial hypercholesterolemia	RCV000775491	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs775309715
Clinvar_Rec_11506	rs693	Benign/Likely benign	Familial hypercholesterolemia;Familial hypercholesterolemia 1;Familial hypobetalipoproteinemia;Warfarin response;not specified	RCV000771027;RCV000388049;RCV000274903;RCV000845577;RCV000116389	MedGen;SNOMED CT;OMIM;SNOMED CT;Orphanet;SNOMED CT;OMIM	C0020445;398036000;MedGen;143890;397915002;MedGen;ORPHA426;60193003;MedGen;122700;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs693
Clinvar_Rec_11507	rs759255307	Uncertain significance	Familial hypercholesterolemia	RCV000775499	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs759255307
Clinvar_Rec_11508	rs749146264	Likely benign	Familial hypercholesterolemia	RCV000775507	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs749146264
Clinvar_Rec_11509	rs917338225	Uncertain significance	Familial hypercholesterolemia	RCV000776630	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs917338225
Clinvar_Rec_11510	rs762705866	Likely benign	Familial hypercholesterolemia 1	RCV000172970	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs762705866
Clinvar_Rec_11511	rs1377332778	Uncertain significance	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000655086;RCV000655086	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs1377332778
Clinvar_Rec_11512	rs1057518647	Likely pathogenic	Hypobetalipoproteinemia;Hypobetalipoproteinemia, familial, 1	RCV000853310;RCV000415324	MedGen;Orphanet;OMIM	C0020597;ORPHA31154;MedGen;615558	criteria provided, single submitter	tagSNP	rs1057518647
Clinvar_Rec_11513	rs777501128	Likely benign	Familial hypercholesterolemia 2;Hypobetalipoproteinemia, familial, 1	RCV000655157;RCV000655157	MedGen;OMIM;OMIM	C1704417;144010;MedGen;615558	criteria provided, single submitter	tagSNP	rs777501128
Clinvar_Rec_11514	rs41288783	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;not provided;not specified	RCV000776116;RCV000256285;RCV000766983;RCV000454922	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs41288783
Clinvar_Rec_11515	rs1306049892	Likely benign	Familial hypercholesterolemia	RCV000777320	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs1306049892
Clinvar_Rec_11516	rs1558577786	Uncertain significance	Familial hypercholesterolemia	RCV000772241	MedGen;SNOMED CT	C0020445;398036000	criteria provided, single submitter	tagSNP	rs1558577786
Clinvar_Rec_11517	rs769419803	Uncertain significance	Tatton-Brown-rahman syndrome;not provided	RCV000515481;RCV000436598	MedGen;OMIM;Orphanet	C4014545;615879;ORPHA404443;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769419803
Clinvar_Rec_11518	rs200715496	Uncertain significance	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency	RCV000691349;RCV000691349	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C3711645;609016;ORPHA5;MedGen;609015;ORPHA746;237999008	criteria provided, single submitter	tagSNP	rs200715496
Clinvar_Rec_11519	rs137852772	Pathogenic	Mitochondrial trifunctional protein deficiency	RCV000009273	MedGen;OMIM;Orphanet;SNOMED CT	C1969443;609015;ORPHA746;237999008	no assertion criteria provided	tagSNP	rs137852772
Clinvar_Rec_11520	rs578132477	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000332725	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs578132477
Clinvar_Rec_11521	rs781688103	Pathogenic	Deafness, autosomal recessive 9	RCV000454260	MedGen;OMIM	C1832828;601071	no assertion criteria provided	tagSNP	rs781688103
Clinvar_Rec_11522	rs191568463	Conflicting interpretations of pathogenicity	Deafness, autosomal recessive 9;Nonsyndromic Hearing Loss, Recessive;not specified	RCV000662046;RCV000295301;RCV000155259	MedGen;OMIM	C1832828;601071;MedGen	criteria provided, conflicting interpretations	tagSNP	rs191568463
Clinvar_Rec_11523	rs80356590	Pathogenic	Deafness, autosomal recessive 9;Rare genetic deafness;not provided	RCV000021043;RCV000211836;RCV000760435	MedGen;OMIM;Orphanet	C1832828;601071;MedGen;ORPHA96210;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs80356590
Clinvar_Rec_11524	rs1558604795	Uncertain significance	Primary pulmonary hypertension 4	RCV000704568	MedGen;OMIM	C3809198;615344	criteria provided, single submitter	tagSNP	rs1558604795
Clinvar_Rec_11525	rs779537390	Uncertain significance	Primary pulmonary hypertension 4	RCV000697978	MedGen;OMIM	C3809198;615344	criteria provided, single submitter	tagSNP	rs779537390
Clinvar_Rec_11526	rs886055896	Uncertain significance	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome, hepatocerebral form	RCV000376781;RCV000322233	MedGen;Orphanet;Orphanet	C0342782;ORPHA35698;MedGen;ORPHA254871	criteria provided, single submitter	tagSNP	rs886055896
Clinvar_Rec_11527	rs115846972	Conflicting interpretations of pathogenicity	Mitochondrial DNA depletion syndrome;Mitochondrial DNA depletion syndrome, hepatocerebral form;not provided;not specified	RCV000363815;RCV000313755;RCV000903706;RCV000175725	MedGen;Orphanet;Orphanet	C0342782;ORPHA35698;MedGen;ORPHA254871;MedGen	criteria provided, conflicting interpretations	LD derived	rs35244252
Clinvar_Rec_11528	rs121909721	Pathogenic	Navajo neurohepatopathy;not provided	RCV000017543;RCV000712314	MedGen;OMIM;Orphanet	C1850406;256810;ORPHA255229;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121909721
Clinvar_Rec_11529	rs397507438	Pathogenic	Navajo neurohepatopathy	RCV000031902	MedGen;OMIM;Orphanet	C1850406;256810;ORPHA255229	no assertion criteria provided	tagSNP	rs397507438
Clinvar_Rec_11530	rs869025254	Likely benign	Anophthalmia - microphthalmia	RCV000207390	MedGen	CN235161	criteria provided, single submitter	tagSNP	rs869025254
Clinvar_Rec_11531	rs56076827	Benign	Leukoencephalopathy with vanishing white matter;not provided;not specified	RCV000320226;RCV000711606;RCV000081780	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7602534
Clinvar_Rec_11532	rs56076827	Likely benign	Retinitis Pigmentosa, Dominant	RCV000330540	MedGen	CN239354	criteria provided, single submitter	LD derived	rs13472
Clinvar_Rec_11533	rs139021548	Likely pathogenic	Short-rib thoracic dysplasia 10 with or without polydactyly	RCV000190597	MedGen;OMIM	C3810175;615630	criteria provided, single submitter	tagSNP	rs139021548
Clinvar_Rec_11534	rs8179206	Uncertain significance	Fasting plasma glucose level quantitative trait locus 5	RCV000490308	MedGen;OMIM	C3150714;613463	criteria provided, single submitter	tagSNP	rs8179206
Clinvar_Rec_11535	rs370203821	Uncertain significance	Retinitis Pigmentosa, Recessive;not provided	RCV000267018;RCV001035182	MedGen	CN239466;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370203821
Clinvar_Rec_11536	rs144437923	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Neuroblastoma 3;Neuroblastoma Susceptibility;not provided	RCV000571332;RCV000473322;RCV000354447;RCV000858554	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613014;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144437923
Clinvar_Rec_11537	rs1553394207	Uncertain significance	Hereditary cancer-predisposing syndrome;Neuroblastoma 3	RCV001020403;RCV000552569	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613014	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553394207
Clinvar_Rec_11538	rs145194836	Uncertain significance	Hereditary cancer-predisposing syndrome;Neuroblastoma 3	RCV001020405;RCV000689555	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613014	criteria provided, multiple submitters, no conflicts	tagSNP	rs145194836
Clinvar_Rec_11539	rs1553402765	Uncertain significance	Neuroblastoma 3	RCV000647431	MedGen;OMIM	C2751681;613014	criteria provided, single submitter	tagSNP	rs1553402765
Clinvar_Rec_11540	rs771340984	Uncertain significance	Neuroblastoma 3	RCV000697687	MedGen;OMIM	C2751681;613014	criteria provided, single submitter	tagSNP	rs771340984
Clinvar_Rec_11541	rs755231246	Uncertain significance	Neuroblastoma Susceptibility	RCV000392419	MedGen	CN239480	criteria provided, single submitter	tagSNP	rs755231246
Clinvar_Rec_11542	rs200246820	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719334;RCV000456155;RCV000127941	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200246820
Clinvar_Rec_11543	rs796053201	Uncertain significance	History of neurodevelopmental disorder	RCV000718454	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs796053201
Clinvar_Rec_11544	rs1553569662	Pathogenic	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11	RCV000640612;RCV000640612	MedGen;OMIM;Orphanet;OMIM	C1843140;607745;ORPHA140927;MedGen;613721	criteria provided, single submitter	tagSNP	rs1553569662
Clinvar_Rec_11545	rs141815642	Benign/Likely benign	Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;History of neurodevelopmental disorder;not provided;not specified	RCV000385447;RCV000293557;RCV000715710;RCV000204044;RCV000118253	MedGen;OMIM;Orphanet	C1843140;607745;ORPHA140927;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141815642
Clinvar_Rec_11546	rs755003900	Likely pathogenic	Early infantile epileptic encephalopathy 11	RCV000626121	MedGen;OMIM	C3150987;613721	criteria provided, single submitter	tagSNP	rs755003900
Clinvar_Rec_11547	rs747402663	Likely benign	History of neurodevelopmental disorder;not provided	RCV000718030;RCV000829182	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747402663
Clinvar_Rec_11548	rs769069833	Uncertain significance	Early infantile epileptic encephalopathy 11;not provided	RCV000791094;RCV000189196	MedGen;OMIM	C3150987;613721;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769069833
Clinvar_Rec_11549	rs796053205	Uncertain significance	Benign familial neonatal-infantile seizures;Early infantile epileptic encephalopathy 11;not provided	RCV000764278;RCV000764278;RCV000189247	MedGen;OMIM;Orphanet;OMIM	C1843140;607745;ORPHA140927;MedGen;613721;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053205
Clinvar_Rec_11550	rs137853091	Pathogenic	Hyperphosphatemic familial tumoral calcinosis 1	RCV000008239	MedGen;OMIM	C4692564;211900	no assertion criteria provided	tagSNP	rs137853091
Clinvar_Rec_11551	rs56115495	Likely benign	Jeune thoracic dystrophy;Joubert syndrome	RCV000367451;RCV000407451	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT	C0265275;ORPHA474;75049004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs56115495
Clinvar_Rec_11552	rs747246700	Uncertain significance	Jeune thoracic dystrophy;Joubert syndrome	RCV000334319;RCV000372660	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT	C0265275;ORPHA474;75049004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs747246700
Clinvar_Rec_11553	rs79746977	Pathogenic	Short rib-polydactyly syndrome, Majewski type	RCV000515936	MedGen;OMIM;Orphanet;SNOMED CT	C0024507;263520;ORPHA93269;72922008	no assertion criteria provided	tagSNP	rs79746977
Clinvar_Rec_11554	rs114725374	Conflicting interpretations of pathogenicity	Jeune thoracic dystrophy;Joubert syndrome;not provided;not specified	RCV000365262;RCV000310489;RCV000842292;RCV001001081	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;SNOMED CT	C0265275;ORPHA474;75049004;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114725374
Clinvar_Rec_11555	rs915676341	Uncertain significance	Early infantile epileptic encephalopathy	RCV000636278	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs915676341
Clinvar_Rec_11556	rs1559099002	Uncertain significance	Early infantile epileptic encephalopathy	RCV000695694	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1559099002
Clinvar_Rec_11557	rs556893466	Uncertain significance	Early infantile epileptic encephalopathy	RCV000232436	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs556893466
Clinvar_Rec_11558	rs121917956	Benign/Likely benign	Epilepsy;Familial hemiplegic migraine;History of neurodevelopmental disorder;Severe myoclonic epilepsy in infancy;not provided;not specified	RCV000348035;RCV000290730;RCV000718206;RCV000986868;RCV000059450;RCV000188822	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	D004827;C0014544;ORPHA166463;MedGen;ORPHA569;95656000;MedGen;607208;ORPHA33069;230437002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121917956
Clinvar_Rec_11559	rs794726723	Pathogenic	Severe myoclonic epilepsy in infancy	RCV000180830	MedGen;OMIM;Orphanet;SNOMED CT	C4551549;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs794726723
Clinvar_Rec_11560	rs1559140306	Pathogenic	Early infantile epileptic encephalopathy	RCV000690701	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1559140306
Clinvar_Rec_11561	rs1057521746	Likely pathogenic	History of neurodevelopmental disorder;not provided	RCV000720045;RCV000430833	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057521746
Clinvar_Rec_11562	rs1057521746	Uncertain significance	Early infantile epileptic encephalopathy;not specified	RCV001054959;RCV000781833	MedGen;Orphanet	C4552072;ORPHA1934;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057521746
Clinvar_Rec_11563	rs149579028	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000720672;RCV000532790;RCV000127885	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149579028
Clinvar_Rec_11564	rs1559140423	Uncertain significance	Early infantile epileptic encephalopathy	RCV000702257	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1559140423
Clinvar_Rec_11565	rs121918801	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 1;not specified	RCV000059503;RCV000188936	MedGen;OMIM	C1858672;604233;MedGen	criteria provided, single submitter	tagSNP	rs121918801
Clinvar_Rec_11566	rs121917910	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Severe myoclonic epilepsy in infancy;not provided;not specified	RCV000717643;RCV000059407;RCV000118242;RCV000188828	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;MedGen;607208;ORPHA33069;230437002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121917910
Clinvar_Rec_11567	rs769635347	Likely benign	Early infantile epileptic encephalopathy	RCV000556171	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs769635347
Clinvar_Rec_11568	rs1131691693	Pathogenic	Early infantile epileptic encephalopathy;not provided	RCV001037785;RCV000494292	MedGen;Orphanet	C4552072;ORPHA1934;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1131691693
Clinvar_Rec_11569	rs1553540213	Pathogenic	Inborn genetic diseases	RCV000622550	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553540213
Clinvar_Rec_11570	rs794726808	Pathogenic	Severe myoclonic epilepsy in infancy	RCV000180929	MedGen;OMIM;Orphanet;SNOMED CT	C4551549;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs794726808
Clinvar_Rec_11571	rs121918796	not provided	Severe myoclonic epilepsy in infancy	RCV000059484	MedGen;OMIM;Orphanet;SNOMED CT	C4551549;607208;ORPHA33069;230437002	no assertion provided	tagSNP	rs121918796
Clinvar_Rec_11572	rs794726838	Pathogenic	Severe myoclonic epilepsy in infancy	RCV000180966	MedGen;OMIM;Orphanet;SNOMED CT	C4551549;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs794726838
Clinvar_Rec_11573	rs372372558	Uncertain significance	Early infantile epileptic encephalopathy;not provided	RCV000686709;RCV000656973	MedGen;Orphanet	C4552072;ORPHA1934;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372372558
Clinvar_Rec_11574	rs757798263	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000696916;RCV000696916	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs757798263
Clinvar_Rec_11575	rs200166620	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000703478;RCV000703478	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs200166620
Clinvar_Rec_11576	rs200166620	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided	RCV000802970;RCV000802970;RCV000235894	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200166620
Clinvar_Rec_11577	rs1553480088	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000697611;RCV000697611	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1553480088
Clinvar_Rec_11578	rs1553486581	Uncertain significance	Abnormal brainstem MRI signal intensity;Absence seizures	RCV000626832;RCV000626832	Human Phenotype Ontology;MedGen;MedGen	HP;C4022749;Human Phenotype Ontology;C4316903	criteria provided, single submitter	tagSNP	rs1553486581
Clinvar_Rec_11579	rs763256222	Uncertain significance	Febrile seizures, familial, 1;Generalized epilepsy with febrile seizures plus, type 7;Indifference to pain, congenital, autosomal recessive;Primary erythromelalgia	RCV000662202;RCV000662200;RCV000662201;RCV000662199	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1852577;121210;MedGen;613863;MedGen;243000;ORPHA88642;MedGen;133020;ORPHA90026;403390002	criteria provided, single submitter	tagSNP	rs763256222
Clinvar_Rec_11580	rs80356469	Pathogenic	Primary erythromelalgia	RCV000006737	MedGen;OMIM;Orphanet;SNOMED CT	C0014805;133020;ORPHA90026;403390002	no assertion criteria provided	tagSNP	rs80356469
Clinvar_Rec_11581	rs201741634	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified	RCV000530781;RCV000530781;RCV000766704;RCV000497605	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201741634
Clinvar_Rec_11582	rs200240989	Conflicting interpretations of pathogenicity	Congenital Indifference to Pain;Familial febrile seizures;Generalized epilepsy with febrile seizures plus;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided	RCV000281460;RCV000393446;RCV000306412;RCV000400747;RCV000337865;RCV000350662;RCV000312180;RCV000535545	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0002768;MedGen;ORPHA36387;MedGen;167400;ORPHA46348;MedGen;607208;ORPHA33069;230437002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200240989
Clinvar_Rec_11583	rs201243874	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000647798;RCV000647798	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs201243874
Clinvar_Rec_11584	rs1355210090	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000692371;RCV000692371	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1355210090
Clinvar_Rec_11585	rs1222851635	Uncertain significance	Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA	RCV000705708;RCV000705708	MedGen;OMIM;OMIM	C2751777;613863;MedGen;201300	criteria provided, single submitter	tagSNP	rs1222851635
Clinvar_Rec_11586	rs72549397	Pathogenic	Progressive familial intrahepatic cholestasis 2;not provided	RCV000006975;RCV000729078	MedGen;OMIM;Orphanet	C3489789;601847;ORPHA79304;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72549397
Clinvar_Rec_11587	rs886044710	Uncertain significance	Cholestasis, intrahepatic, of pregnancy 3;not provided	RCV001003557;RCV000369216	MedGen;OMIM	C3554241;614972;MedGen	criteria provided, single submitter	tagSNP	rs886044710
Clinvar_Rec_11588	rs767240340	Likely benign	Bardet-Biedl syndrome	RCV000638375	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs767240340
Clinvar_Rec_11589	rs551237040	Uncertain significance	Cerebral palsy spastic quadriplegic	RCV000390716	MedGen	C0837178	criteria provided, single submitter	tagSNP	rs551237040
Clinvar_Rec_11590	rs114519296	Uncertain significance	Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities	RCV000380959	MedGen;OMIM;Orphanet;SNOMED CT	C0342286;241080;ORPHA3464;237616002	criteria provided, single submitter	tagSNP	rs114519296
Clinvar_Rec_11591	rs769808745	Uncertain significance	Epidermolysis bullosa junctionalis with pyloric atresia	RCV000779286	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403	criteria provided, single submitter	tagSNP	rs769808745
Clinvar_Rec_11592	rs145129719	Uncertain significance	Epidermolysis bullosa junctionalis with pyloric atresia	RCV000407663	MedGen;OMIM;Orphanet	C1856934;226730;ORPHA79403	criteria provided, single submitter	LD derived	rs147290718
Clinvar_Rec_11593	rs150638770	Conflicting interpretations of pathogenicity	Autosomal recessive multiple pterygium syndrome;Congenital Myasthenic Syndrome, Dominant/Recessive;not provided;not specified	RCV000314306;RCV000277508;RCV000724411;RCV000246828	MedGen;OMIM;Orphanet	C0265261;265000;ORPHA2990;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150638770
Clinvar_Rec_11594	rs762327875	Likely benign	Lethal multiple pterygium syndrome	RCV000544281	MedGen;OMIM;Orphanet;SNOMED CT	C1854678;253290;ORPHA33108;60192008	criteria provided, single submitter	tagSNP	rs762327875
Clinvar_Rec_11595	rs200288104	Uncertain significance	Rhizomelic chondrodysplasia punctata	RCV000398638	MedGen;Orphanet;SNOMED CT	C0282529;ORPHA177;56692003	criteria provided, single submitter	LD derived	rs191948308
Clinvar_Rec_11596	rs367946624	Uncertain significance	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000324442;RCV000471038;RCV000372131;RCV000359282;RCV000471038;RCV000260782;RCV000266937;RCV000310252;RCV000725050;RCV000296856	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs184078045
Clinvar_Rec_11597	rs548194237	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000229401;RCV000229401;RCV000172325	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	LD derived	rs184815126
Clinvar_Rec_11598	rs548194237	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000234261;RCV000234261;RCV000844472	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	LD derived	rs550441902
Clinvar_Rec_11599	rs200716018	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000643584;RCV000643584;RCV000274809	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200716018
Clinvar_Rec_11600	rs397517795	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000204885;RCV000204885;RCV000040957	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517795
Clinvar_Rec_11601	rs772286988	Uncertain significance	Cardiovascular phenotype	RCV000621261	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs772286988
Clinvar_Rec_11602	rs1553491321	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000547413;RCV000547413	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553491321
Clinvar_Rec_11603	rs750864230	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000546117;RCV000546117;RCV000727775	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs750864230
Clinvar_Rec_11604	rs1559032218	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000701088;RCV000701088;RCV000732411	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1559032218
Clinvar_Rec_11605	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000622061;RCV000852775;RCV000082470;RCV000040921	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs56347248
Clinvar_Rec_11606	rs56347248	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769836;RCV000618405;RCV000230372;RCV000040992	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55832587
Clinvar_Rec_11607	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621659;RCV000381369;RCV000291689;RCV000387195;RCV000293061;RCV000326652;RCV000346612;RCV000227205;RCV000040980	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56324602
Clinvar_Rec_11608	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621955;RCV000852778;RCV000082468;RCV000040912	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs55669553
Clinvar_Rec_11609	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617994;RCV000356538;RCV000359808;RCV000390557;RCV000296950;RCV000404052;RCV000305106;RCV000226522;RCV000040907	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55802460
Clinvar_Rec_11610	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621363;RCV000358348;RCV000361710;RCV000259981;RCV000265994;RCV000304712;RCV000318302;RCV000230871;RCV000040892	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56026369
Clinvar_Rec_11611	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620463;RCV000300087;RCV000367607;RCV000352349;RCV000391894;RCV000312817;RCV000391901;RCV000228196;RCV000040872	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs138968178
Clinvar_Rec_11612	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620998;RCV000852787;RCV000082453;RCV000040824	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs191484894
Clinvar_Rec_11613	rs56347248	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618754;RCV000231826;RCV000040819	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140663434
Clinvar_Rec_11614	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000621123;RCV000852791;RCV000082447;RCV000040783	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs148617456
Clinvar_Rec_11615	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000618823;RCV000278620;RCV000852794;RCV000342088;RCV000327591;RCV000373393;RCV000376846;RCV000286969;RCV000082445;RCV000040770	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs150430592
Clinvar_Rec_11616	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000617583;RCV000310741;RCV000852796;RCV000266286;RCV000364179;RCV000269727;RCV000365525;RCV000320246;RCV000082444;RCV000040766	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149567378
Clinvar_Rec_11617	rs56347248	Benign	Cardiovascular phenotype;not provided;not specified	RCV000617446;RCV000226927;RCV000040763	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs142891278
Clinvar_Rec_11618	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000620318;RCV000277428;RCV000852805;RCV000331336;RCV000316062;RCV000280746;RCV000373068;RCV000369656;RCV000082434;RCV000040684	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56264840
Clinvar_Rec_11619	rs56347248	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769953;RCV000619087;RCV000326784;RCV000302121;RCV000381449;RCV000271701;RCV000366295;RCV000277214;RCV000228478;RCV000040586	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56293906
Clinvar_Rec_11620	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620024;RCV000852822;RCV000082419;RCV000040483	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	LD derived	rs150661999
Clinvar_Rec_11621	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000621779;RCV000297936;RCV000358464;RCV000267176;RCV000354983;RCV000265279;RCV000324817;RCV000234615;RCV000040397	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55956577
Clinvar_Rec_11622	rs56347248	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770020;RCV000618761;RCV000278424;RCV000852849;RCV000372977;RCV000321923;RCV000376541;RCV000282058;RCV000318292;RCV000082412;RCV000040306	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs55663050
Clinvar_Rec_11623	rs56347248	Benign	Cardiovascular phenotype;not provided;not specified	RCV000618718;RCV000234767;RCV000040298	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146163169
Clinvar_Rec_11624	rs56347248	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000619989;RCV000406274;RCV000852853;RCV000403243;RCV000349511;RCV000369133;RCV000314422;RCV000299345;RCV000082410;RCV000040283	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146181477
Clinvar_Rec_11625	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000399534;RCV000852870;RCV000261047;RCV000309400;RCV000315049;RCV000369677;RCV000350143;RCV000082392;RCV000040174	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs140640738
Clinvar_Rec_11626	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000394456;RCV000337940;RCV000287114;RCV000339794;RCV000404515;RCV000299397;RCV000230929;RCV000040103	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs188584219
Clinvar_Rec_11627	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000280234;RCV000852888;RCV000338683;RCV000374655;RCV000387544;RCV000293034;RCV000333108;RCV000082380;RCV000040029	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149855485
Clinvar_Rec_11628	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000351256;RCV000311931;RCV000393808;RCV000368985;RCV000308004;RCV000393824;RCV000226020;RCV000039995	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs185062935
Clinvar_Rec_11629	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000352590;RCV000852891;RCV000280089;RCV000390050;RCV000335014;RCV000406710;RCV000293069;RCV000082372;RCV000039991	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs149523263
Clinvar_Rec_11630	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000264795;RCV000852896;RCV000374065;RCV000304724;RCV000319862;RCV000359492;RCV000260706;RCV000082367;RCV000039937	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146627500
Clinvar_Rec_11631	rs56347248	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000342596;RCV000852901;RCV000390436;RCV000355321;RCV000262868;RCV000302779;RCV000296922;RCV000082364;RCV000039916	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs184412722
Clinvar_Rec_11632	rs56347248	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620901;RCV000852921;RCV000172702;RCV000041110	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55857742
Clinvar_Rec_11633	rs56347248	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770156;RCV000308895;RCV000268886;RCV000267712;RCV000326312;RCV000365866;RCV000359959;RCV000227722;RCV000039981	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs190935632
Clinvar_Rec_11634	rs56347248	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769138;RCV000248787;RCV000226691;RCV000039867	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs55972547
Clinvar_Rec_11635	rs56347248	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769146;RCV000244934;RCV000386983;RCV000292753;RCV000371811;RCV000317186;RCV000318413;RCV000282036;RCV000234634;RCV000040314	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56137037
Clinvar_Rec_11636	rs367732133	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769859;RCV000620355;RCV000262541;RCV000277718;RCV000382589;RCV000367647;RCV000332750;RCV000331702;RCV000231588;RCV000184116	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs367732133
Clinvar_Rec_11637	rs879048474	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000544208;RCV000544208	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs879048474
Clinvar_Rec_11638	rs2278196	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000249737;RCV000362056;RCV000467980;RCV000315660;RCV000260379;RCV000467980;RCV000330612;RCV000263770;RCV000356466;RCV000040898	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2278196
Clinvar_Rec_11639	rs2278196	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000253484;RCV000383347;RCV000466889;RCV000379607;RCV000268812;RCV000466889;RCV000326481;RCV000322622;RCV000291248;RCV000040969	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs16866380
Clinvar_Rec_11640	rs2278196	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000247202;RCV000330694;RCV000476173;RCV000277953;RCV000272164;RCV000476173;RCV000387601;RCV000381753;RCV000329489;RCV000040924	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3731752
Clinvar_Rec_11641	rs564536939	Benign/Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000472013;RCV000472013;RCV000156252	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs564536939
Clinvar_Rec_11642	rs758792040	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000229515;RCV000229515	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs758792040
Clinvar_Rec_11643	rs748796464	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000546913;RCV000546913	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs748796464
Clinvar_Rec_11644	rs368686031	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000532057;RCV000532057	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs368686031
Clinvar_Rec_11645	rs368686031	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000251384;RCV000347379;RCV000313275;RCV000289024;RCV000344022;RCV000408192;RCV000383410;RCV000725315;RCV000154880	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368686031
Clinvar_Rec_11646	rs1553507202	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642933;RCV000642933	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553507202
Clinvar_Rec_11647	rs397517772	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000619770;RCV000308086;RCV000346361;RCV000277556;RCV000303221;RCV000369817;RCV000393698;RCV000861079;RCV000040860	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397517772
Clinvar_Rec_11648	rs201108270	Uncertain significance	Primary dilated cardiomyopathy	RCV000209721	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs201108270
Clinvar_Rec_11649	rs1197841768	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000554043;RCV000554043	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1197841768
Clinvar_Rec_11650	rs878854432	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000232804	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs878854432
Clinvar_Rec_11651	rs577904312	Uncertain significance	Cardiovascular phenotype	RCV000621619	MedGen	CN230736	criteria provided, single submitter	LD derived	rs564287456
Clinvar_Rec_11652	rs368516973	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000619523;RCV000726536;RCV000304138	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368516973
Clinvar_Rec_11653	rs794727468	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000692329;RCV000692329;RCV000176901	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727468
Clinvar_Rec_11654	rs746067385	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000544145;RCV000544145	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs746067385
Clinvar_Rec_11655	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769870;RCV000248418;RCV000298233;RCV000407542;RCV000400220;RCV000352941;RCV000299281;RCV000351970;RCV000471009;RCV000040843	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56027402
Clinvar_Rec_11656	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769876;RCV000251771;RCV000308522;RCV000365444;RCV000305000;RCV000407843;RCV000362062;RCV000390397;RCV000473853;RCV000040827	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648260
Clinvar_Rec_11657	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768872;RCV000243704;RCV000350233;RCV000318588;RCV000292793;RCV000261084;RCV000371834;RCV000375496;RCV000458591;RCV000040736	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648229
Clinvar_Rec_11658	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769920;RCV000248670;RCV000344903;RCV000328118;RCV000376816;RCV000284840;RCV000384418;RCV000287691;RCV000456597;RCV000040702	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56057221
Clinvar_Rec_11659	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768899;RCV000253619;RCV000259436;RCV000373891;RCV000332195;RCV000284274;RCV000372601;RCV000319243;RCV000467367;RCV000040689	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56309296
Clinvar_Rec_11660	rs145641095	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768908;RCV000245640;RCV000391837;RCV000363340;RCV000284246;RCV000306356;RCV000341624;RCV000391841;RCV000456141;RCV000040675	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56365600
Clinvar_Rec_11661	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769870;RCV000248418;RCV000298233;RCV000407542;RCV000400220;RCV000352941;RCV000299281;RCV000351970;RCV000471009;RCV000040843	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56027402
Clinvar_Rec_11662	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769876;RCV000251771;RCV000308522;RCV000365444;RCV000305000;RCV000407843;RCV000362062;RCV000390397;RCV000473853;RCV000040827	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648260
Clinvar_Rec_11663	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768872;RCV000243704;RCV000350233;RCV000318588;RCV000292793;RCV000261084;RCV000371834;RCV000375496;RCV000458591;RCV000040736	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72648229
Clinvar_Rec_11664	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769920;RCV000248670;RCV000344903;RCV000328118;RCV000376816;RCV000284840;RCV000384418;RCV000287691;RCV000456597;RCV000040702	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56057221
Clinvar_Rec_11665	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768899;RCV000253619;RCV000259436;RCV000373891;RCV000332195;RCV000284274;RCV000372601;RCV000319243;RCV000467367;RCV000040689	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56309296
Clinvar_Rec_11666	rs72648232	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000768908;RCV000245640;RCV000391837;RCV000363340;RCV000284246;RCV000306356;RCV000341624;RCV000391841;RCV000456141;RCV000040675	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs56365600
Clinvar_Rec_11667	rs148231754	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000231587;RCV000231587;RCV000184394	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148231754
Clinvar_Rec_11668	rs200709344	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000768877;RCV000232855;RCV000232855;RCV000997368;RCV000040723	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200709344
Clinvar_Rec_11669	rs868494032	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy;not provided	RCV000216926;RCV000283799	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs868494032
Clinvar_Rec_11670	rs754207859	Uncertain significance	Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000768880;RCV000473090;RCV000473090	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;604145;MedGen;608807;ORPHA140922	criteria provided, multiple submitters, no conflicts	tagSNP	rs754207859
Clinvar_Rec_11671	rs769862471	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000534374	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs769862471
Clinvar_Rec_11672	rs373634657	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000643725;RCV000643725;RCV000608243	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373634657
Clinvar_Rec_11673	rs886039026	Likely benign	Cardiovascular phenotype;not specified	RCV000251055;RCV000426603	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886039026
Clinvar_Rec_11674	rs373533040	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000550223	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs373533040
Clinvar_Rec_11675	rs869312117	Likely pathogenic	Primary dilated cardiomyopathy	RCV000209827	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs869312117
Clinvar_Rec_11676	rs752618930	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000535166;RCV000535166	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs752618930
Clinvar_Rec_11677	rs1060500403	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000470876;RCV000470876	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500403
Clinvar_Rec_11678	rs878854335	Pathogenic	Dilated cardiomyopathy 1G;not provided	RCV000228009;RCV000624343	MedGen;OMIM	C1858763;604145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854335
Clinvar_Rec_11679	rs878854334	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000227188;RCV000227188	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs878854334
Clinvar_Rec_11680	rs1553604956	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000559553;RCV000559553	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553604956
Clinvar_Rec_11681	rs878854332	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1G;not provided	RCV000229973;RCV000292951	MedGen;OMIM	C1858763;604145;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs878854332
Clinvar_Rec_11682	rs768892376	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000471212;RCV000471212	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs768892376
Clinvar_Rec_11683	rs72646898	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000325387;RCV000469841;RCV000290296;RCV000276928;RCV000469841;RCV000369107;RCV000330878;RCV000382277;RCV000512928	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72646898
Clinvar_Rec_11684	rs72646898	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000460291;RCV000460291;RCV000513233	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	LD derived	rs72648221
Clinvar_Rec_11685	rs72646898	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Muscular Diseases;not provided;not specified	RCV000469863;RCV000469863;RCV000626790;RCV000172340;RCV000219175	MedGen;OMIM;OMIM;Orphanet;MedGen	C1858763;604145;MedGen;608807;ORPHA140922;Human Phenotype Ontology;C0026848;MedGen	criteria provided, conflicting interpretations	LD derived	rs201257644
Clinvar_Rec_11686	rs199784966	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000617309;RCV000725164;RCV000259057	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199784966
Clinvar_Rec_11687	rs368415251	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643035;RCV000643035	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs368415251
Clinvar_Rec_11688	rs370375696	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000260704;RCV000321948;RCV000266855;RCV000376662;RCV000316120;RCV000361482;RCV000541422;RCV000263252	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370375696
Clinvar_Rec_11689	rs727503565	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary dilated cardiomyopathy	RCV000691893;RCV000691893;RCV000152223	MedGen;OMIM;OMIM;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C1858763;604145;MedGen;608807;ORPHA140922;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503565
Clinvar_Rec_11690	rs369503828	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000342673;RCV000377420;RCV000262898;RCV000371793;RCV000318111;RCV000282721;RCV000714084;RCV000156831	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs369503828
Clinvar_Rec_11691	rs369503828	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000377053;RCV000322474;RCV000307254;RCV000366454;RCV000270807;RCV000271953;RCV000713976	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs376820575
Clinvar_Rec_11692	rs775579156	Uncertain significance	Dilated cardiomyopathy 1G;Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9;Limb-girdle muscular dystrophy, type 2J;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000643176;RCV000765556;RCV000765556;RCV000643176;RCV000765556;RCV000765556;RCV000765556;RCV000765556;RCV000184753	MedGen;OMIM;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1858763;604145;MedGen;604145;MedGen;613765;MedGen;608807;ORPHA140922;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775579156
Clinvar_Rec_11693	rs1476017129	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000540750	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs1476017129
Clinvar_Rec_11694	rs727503577	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000405984;RCV000402985;RCV000365300;RCV000343431;RCV000308543;RCV000311951;RCV000724292;RCV000152246	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs727503577
Clinvar_Rec_11695	rs2303838	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000247001;RCV000378652;RCV000375023;RCV000344346;RCV000321643;RCV000282945;RCV000287051;RCV000993473;RCV000040517	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2303838
Clinvar_Rec_11696	rs772361876	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000538703;RCV000538703	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs772361876
Clinvar_Rec_11697	rs768380109	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643728;RCV000643728	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs768380109
Clinvar_Rec_11698	rs1481781346	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000528277;RCV000528277	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1481781346
Clinvar_Rec_11699	rs1393150545	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000556654;RCV000556654	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1393150545
Clinvar_Rec_11700	rs373636513	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000643672;RCV000643672;RCV000184732	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373636513
Clinvar_Rec_11701	rs754581725	Uncertain significance	Cardiovascular phenotype	RCV000620747	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs754581725
Clinvar_Rec_11702	rs757789191	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000539952;RCV000539952	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs757789191
Clinvar_Rec_11703	rs372065796	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000251065;RCV000388445;RCV000390505;RCV000284206;RCV000333758;RCV000344432;RCV000289353;RCV000724705;RCV000176605	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372065796
Clinvar_Rec_11704	rs562680371	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000300379;RCV000354177;RCV000339294;RCV000304060;RCV000400185;RCV000392749;RCV000869565;RCV000152264	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs562680371
Clinvar_Rec_11705	rs554308191	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643396;RCV000643396	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	LD derived	rs571702144
Clinvar_Rec_11706	rs554308191	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000642944;RCV000642944;RCV000040235	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs397517572
Clinvar_Rec_11707	rs1279772354	Likely benign	Cardiovascular phenotype	RCV000621681	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1279772354
Clinvar_Rec_11708	rs374058011	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000529147;RCV000529147;RCV000831467	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374058011
Clinvar_Rec_11709	rs772767570	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided	RCV000380363;RCV000322384;RCV000323509;RCV000261492;RCV000283675;RCV000384286;RCV000841748	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs772767570
Clinvar_Rec_11710	rs140714512	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000251794;RCV000299433;RCV000356712;RCV000400539;RCV000298398;RCV000264643;RCV000360237;RCV000172658;RCV000154653	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140714512
Clinvar_Rec_11711	rs1027035888	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000469519;RCV000469519	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1027035888
Clinvar_Rec_11712	rs1553674975	Likely pathogenic	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000556467;RCV000556467	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553674975
Clinvar_Rec_11713	rs1553675991	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643191;RCV000643191	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553675991
Clinvar_Rec_11714	rs777505893	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000642758;RCV000642758;RCV000596246	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs777505893
Clinvar_Rec_11715	rs1064792915	Likely pathogenic	Dilated cardiomyopathy 1G	RCV000466289	MedGen;OMIM	C1858763;604145	criteria provided, single submitter	tagSNP	rs1064792915
Clinvar_Rec_11716	rs1559746821	Likely pathogenic	Cardiomyopathy	RCV000770014	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1559746821
Clinvar_Rec_11717	rs777245474	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643414;RCV000643414	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs777245474
Clinvar_Rec_11718	rs762214300	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000470373;RCV000470373;RCV000217972	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762214300
Clinvar_Rec_11719	rs1553699454	Likely pathogenic	Cardiovascular phenotype	RCV000617296	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1553699454
Clinvar_Rec_11720	rs1553703542	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643330;RCV000643330	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553703542
Clinvar_Rec_11721	rs1553707943	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000539060;RCV000539060	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553707943
Clinvar_Rec_11722	rs577133803	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000463793;RCV000463793;RCV000594284	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs577133803
Clinvar_Rec_11723	rs72677232	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769009;RCV000251802;RCV000385584;RCV000356826;RCV000331321;RCV000767391;RCV000332423;RCV000262089;RCV000296178;RCV000172668;RCV000040278	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;C0686353;ORPHA263;93153005;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72677232
Clinvar_Rec_11724	rs1553713646	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642791;RCV000642791	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553713646
Clinvar_Rec_11725	rs145520397	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000770023;RCV000243631;RCV000234556;RCV000040272	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs145520397
Clinvar_Rec_11726	rs145520397	Benign/Likely benign	Cardiomyopathy;not provided;not specified	RCV000769961;RCV000228229;RCV000040542	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72646883
Clinvar_Rec_11727	rs727505075	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000543269;RCV000543269;RCV000156515	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727505075
Clinvar_Rec_11728	rs72677221	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000618391;RCV000474807;RCV000152351	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72677221
Clinvar_Rec_11729	rs762830792	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643151;RCV000643151	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs762830792
Clinvar_Rec_11730	rs201390600	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Inborn genetic diseases;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000463022;RCV000244515;RCV000463022;RCV000598397	MedGen;OMIM;MedGen;OMIM;Orphanet	C1858763;604145;MeSH;C0950123;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201390600
Clinvar_Rec_11731	rs201390600	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1G;Inborn genetic diseases;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000620920;RCV000474091;RCV000622593;RCV000474091;RCV000595166	MedGen;OMIM;MedGen;OMIM;Orphanet	CN230736;MedGen;604145;MeSH;C0950123;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201694149
Clinvar_Rec_11732	rs767038885	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000462149;RCV000462149	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs767038885
Clinvar_Rec_11733	rs1060500566	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000465011;RCV000465011	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500566
Clinvar_Rec_11734	rs1114167333	Likely pathogenic	Dilated cardiomyopathy 1S	RCV000491186	MedGen;OMIM	C1834481;613426	no assertion criteria provided	tagSNP	rs1114167333
Clinvar_Rec_11735	rs550471556	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not specified	RCV000617426;RCV000401479;RCV000456625;RCV000407476;RCV000341059;RCV000456625;RCV000292039;RCV000346971;RCV000285996;RCV000156052	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs550471556
Clinvar_Rec_11736	rs749356221	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000542671;RCV000542671;RCV000295285	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749356221
Clinvar_Rec_11737	rs771839127	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000470039;RCV000470039	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs771839127
Clinvar_Rec_11738	rs200939270	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000458415;RCV000458415	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs200939270
Clinvar_Rec_11739	rs574655603	Uncertain significance	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy	RCV000279793;RCV000337213;RCV000292903;RCV000350285;RCV000372067;RCV000375654	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609	criteria provided, single submitter	LD derived	rs534319705
Clinvar_Rec_11740	rs1187808745	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643637;RCV000643637	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1187808745
Clinvar_Rec_11741	rs781655223	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000473477;RCV000473477	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs781655223
Clinvar_Rec_11742	rs72650031	Conflicting interpretations of pathogenicity	Brugada syndrome;Cardiomyopathy;Cardiovascular phenotype;Supraventricular tachycardia;Ventricular tachycardia;not provided;not specified	RCV000852875;RCV000770067;RCV000245813;RCV000852875;RCV000852875;RCV000118748;RCV000040143	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;MedGen;Human Phenotype Ontology;MedGen;SNOMED CT	C1142166;ORPHA130;418818005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;C0039240;EFO;HP;C0042514;25569003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72650031
Clinvar_Rec_11743	rs1425322355	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000545303;RCV000545303	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1425322355
Clinvar_Rec_11744	rs369094355	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000643366;RCV000643366;RCV000724537;RCV000154965	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369094355
Clinvar_Rec_11745	rs72650006	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000252332;RCV000359919;RCV000204308;RCV000307512;RCV000365787;RCV000204308;RCV000308804;RCV000395851;RCV000395854;RCV000993419;RCV000040096	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72650006
Clinvar_Rec_11746	rs72650006	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000242694;RCV000310358;RCV000206419;RCV000403485;RCV000341110;RCV000206419;RCV000403813;RCV000365001;RCV000307394;RCV000993410;RCV000040040	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs72648987
Clinvar_Rec_11747	rs878919397	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643783;RCV000643783	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs878919397
Clinvar_Rec_11748	rs202160275	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000242706;RCV000363523;RCV000383180;RCV000265162;RCV000268918;RCV000328537;RCV000320266;RCV000172372;RCV000152385	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202160275
Clinvar_Rec_11749	rs1553887887	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000642939;RCV000642939	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553887887
Clinvar_Rec_11750	rs2562832	Benign/Likely benign	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000243395;RCV000390782;RCV000468055;RCV000335644;RCV000360749;RCV000468055;RCV000306004;RCV000299458;RCV000265871;RCV000993408;RCV000040033	MedGen;OMIM;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;604145;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2562832
Clinvar_Rec_11751	rs550882549	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643887;RCV000643887	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	LD derived	rs377420188
Clinvar_Rec_11752	rs547641733	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000545269;RCV000545269;RCV000185446	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs548471822
Clinvar_Rec_11753	rs148072021	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643410;RCV000643410	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs148072021
Clinvar_Rec_11754	rs148072021	Uncertain significance	Cardiomyopathy	RCV000770082	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs148072021
Clinvar_Rec_11755	rs763006525	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000456299;RCV000456299	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs763006525
Clinvar_Rec_11756	rs185962498	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000252082;RCV000284877;RCV000321145;RCV000281491;RCV000336590;RCV000375751;RCV000372440;RCV000176704;RCV000155826	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs146941600
Clinvar_Rec_11757	rs754271006	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000550074;RCV000550074	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs754271006
Clinvar_Rec_11758	rs886038840	Uncertain significance	Cardiovascular phenotype	RCV000246439	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886038840
Clinvar_Rec_11759	rs1553934896	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643902;RCV000643902	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1553934896
Clinvar_Rec_11760	rs746578	Benign	Cardiovascular phenotype;not provided;not specified	RCV000619423;RCV000993386;RCV000041099	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746578
Clinvar_Rec_11761	rs746578	Benign	Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000770109;RCV000618118;RCV000204375;RCV000204375;RCV000041100	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746578
Clinvar_Rec_11762	rs869312039	Likely pathogenic	Primary dilated cardiomyopathy	RCV000208993	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs869312039
Clinvar_Rec_11763	rs794729308	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000819265;RCV000819265;RCV000184290	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794729308
Clinvar_Rec_11764	rs33971253	Benign	Cardiomyopathy;Cardiovascular phenotype;Hypertrophic cardiomyopathy;Supraventricular tachycardia;not provided;not specified	RCV000769091;RCV000619761;RCV000852923;RCV000852923;RCV000206781;RCV000041083	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;MedGen	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;Human Phenotype Ontology;C0039240;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs33971253
Clinvar_Rec_11765	rs33971253	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000770077;RCV000242854;RCV000204664;RCV000039963	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34562585
Clinvar_Rec_11766	rs72648918	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000618347;RCV000713963;RCV000154997	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72648918
Clinvar_Rec_11767	rs892763465	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000537627;RCV000537627	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs892763465
Clinvar_Rec_11768	rs869312097	Uncertain significance	Primary dilated cardiomyopathy	RCV000209471	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs869312097
Clinvar_Rec_11769	rs1243794346	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000543237;RCV000543237	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1243794346
Clinvar_Rec_11770	rs778172350	Conflicting interpretations of pathogenicity	Cardiomyopathy;Primary dilated cardiomyopathy;not provided	RCV000769096;RCV000209565;RCV000184376	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs778172350
Clinvar_Rec_11771	rs397517763	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000226116;RCV000226116;RCV000185204;RCV000040834	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517763
Clinvar_Rec_11772	rs144247127	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000537343;RCV000537343	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs144247127
Clinvar_Rec_11773	rs145649088	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified	RCV000770126;RCV000247303;RCV000457380;RCV000457380;RCV000726728;RCV000596013	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145649088
Clinvar_Rec_11774	rs745311218	Uncertain significance	Dilated cardiomyopathy 1G;Dilated cardiomyopathy 1G;Familial hypertrophic cardiomyopathy 9;Limb-girdle muscular dystrophy, type 2J;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy	RCV000540656;RCV000765590;RCV000765590;RCV000540656;RCV000765590;RCV000765590;RCV000765590;RCV000765590	MedGen;OMIM;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1858763;604145;MedGen;604145;MedGen;613765;MedGen;608807;ORPHA140922;MedGen;608807;ORPHA140922;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609	criteria provided, multiple submitters, no conflicts	tagSNP	rs745311218
Clinvar_Rec_11775	rs1554006798	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643514;RCV000643514	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1554006798
Clinvar_Rec_11776	rs376857956	Conflicting interpretations of pathogenicity	Atrial fibrillation;Cardiovascular phenotype;not provided;not specified	RCV000852938;RCV000242790;RCV000544938;RCV000040321	EFO;Human Phenotype Ontology;MedGen	EFO_0000275;HP;C0004238;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376857956
Clinvar_Rec_11777	rs879232192	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000643593;RCV000643593	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs879232192
Clinvar_Rec_11778	rs139636676	Conflicting interpretations of pathogenicity	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000472530;RCV000472530;RCV000594052	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139636676
Clinvar_Rec_11779	rs139636676	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified	RCV000233815;RCV000233815;RCV000593136	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs552053581
Clinvar_Rec_11780	rs1060500558	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000471701;RCV000471701	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs1060500558
Clinvar_Rec_11781	rs180694107	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000463378;RCV000463378;RCV000172489	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs180694107
Clinvar_Rec_11782	rs180694107	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided	RCV000465020;RCV000465020;RCV000172221	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs554841820
Clinvar_Rec_11783	rs145211131	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000368852;RCV000310757;RCV000311791;RCV000408385;RCV000363227;RCV000270976;RCV000867716;RCV000039898	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145211131
Clinvar_Rec_11784	rs149753504	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000342596;RCV000852901;RCV000390436;RCV000355321;RCV000262868;RCV000302779;RCV000296922;RCV000082364;RCV000039916	MedGen;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	CN239310;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs184412722
Clinvar_Rec_11785	rs149753504	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy;not provided;not specified	RCV000620901;RCV000852921;RCV000172702;RCV000041110	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs55857742
Clinvar_Rec_11786	rs149753504	Conflicting interpretations of pathogenicity	Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000770156;RCV000308895;RCV000268886;RCV000267712;RCV000326312;RCV000365866;RCV000359959;RCV000227722;RCV000039981	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs190935632
Clinvar_Rec_11787	rs149753504	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000769138;RCV000248787;RCV000226691;RCV000039867	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs55972547
Clinvar_Rec_11788	rs149753504	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Tibial muscular dystrophy;not provided;not specified	RCV000769146;RCV000244934;RCV000386983;RCV000292753;RCV000371811;RCV000317186;RCV000318413;RCV000282036;RCV000234634;RCV000040314	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;C0007194;ORPHA217569;MedGen;611705;ORPHA289377;MedGen;603689;ORPHA178464;MedGen;600334;ORPHA609;MedGen	criteria provided, conflicting interpretations	LD derived	rs56137037
Clinvar_Rec_11789	rs11553356	Likely benign	Retinitis Pigmentosa, Recessive	RCV000386722	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs11553356
Clinvar_Rec_11790	rs11553356	Likely benign	Retinitis Pigmentosa, Recessive	RCV000360469	MedGen	CN239466	criteria provided, single submitter	LD derived	rs74486071
Clinvar_Rec_11791	rs11553356	Likely benign	Retinitis Pigmentosa, Recessive	RCV000355145	MedGen	CN239466	criteria provided, single submitter	LD derived	rs12614187
Clinvar_Rec_11792	rs11553356	Benign/Likely benign	Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 26;not specified	RCV000398559;RCV000986949;RCV000242775	MedGen;OMIM	CN239466;MedGen;608380;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12623687
Clinvar_Rec_11793	rs121909398	Pathogenic	Cone-rod degeneration;Cone-rod dystrophy;Cone/cone-rod dystrophy;Retinal dystrophy;Retinal pigment epithelial atrophy;Retinitis pigmentosa;Retinitis pigmentosa 26;not provided	RCV001002941;RCV000678538;RCV000626731;RCV000504807;RCV000626731;RCV000504646;RCV000002460;RCV000725950	na;MedGen;Orphanet;MedGen;Orphanet;MedGen;Orphanet;SNOMED CT;MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C4085590;ORPHA1872;Human Phenotype Ontology;C0730290;ORPHA1871;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;C1840457;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen;608380;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121909398
Clinvar_Rec_11794	rs41270211	Likely benign	Maturity onset diabetes mellitus in young	RCV000375886	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs41270211
Clinvar_Rec_11795	rs587779525	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087462	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779525
Clinvar_Rec_11796	rs587779696	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087694	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779696
Clinvar_Rec_11797	rs587779547	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087488	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779547
Clinvar_Rec_11798	rs771015742	Likely benign	Connective tissue disease;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection	RCV000659414;RCV000549662;RCV000771858	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	C0009782;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387	criteria provided, multiple submitters, no conflicts	tagSNP	rs771015742
Clinvar_Rec_11799	rs587779442	Likely pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087366	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs587779442
Clinvar_Rec_11800	rs112371422	Pathogenic	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4	RCV000618906;RCV000087665	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;130050;ORPHA286;17025000	criteria provided, multiple submitters, no conflicts	tagSNP	rs112371422
Clinvar_Rec_11801	rs112371422	Uncertain significance	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000248101;RCV000692659;RCV000778021;RCV000181110	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112371422
Clinvar_Rec_11802	rs889877870	Uncertain significance	Thoracic aortic aneurysm and aortic dissection;not provided	RCV000772009;RCV000437527	MedGen;Orphanet	C4707243;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs889877870
Clinvar_Rec_11803	rs587779473	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087404	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779473
Clinvar_Rec_11804	rs587779473	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087726	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779473
Clinvar_Rec_11805	rs752598062	Uncertain significance	Ehlers-Danlos syndrome, type 4	RCV000634719	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs752598062
Clinvar_Rec_11806	rs75542756	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 7A;not provided;not specified	RCV000618401;RCV000375987;RCV000456788;RCV000124508	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs75542756
Clinvar_Rec_11807	rs149203102	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000634624	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs149203102
Clinvar_Rec_11808	rs149203102	Uncertain significance	Connective tissue disease	RCV000659474	MedGen	C0009782	criteria provided, multiple submitters, no conflicts	tagSNP	rs149203102
Clinvar_Rec_11809	rs863223502	Uncertain significance	Marfan syndrome;not provided	RCV000208065;RCV000197118	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863223502
Clinvar_Rec_11810	rs886055369	Uncertain significance	Lynch syndrome	RCV000330843	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs886055369
Clinvar_Rec_11811	rs886055373	Uncertain significance	Familial Atypical Mycobacteriosis, Autosomal Dominant	RCV000315455	MedGen	CN239224	criteria provided, single submitter	tagSNP	rs886055373
Clinvar_Rec_11812	rs878854424	Uncertain significance	Neurodevelopmental disorder with hypotonia, seizures, and absent language;not provided	RCV000415531;RCV000509485	MedGen;OMIM	C4310643;617268;MedGen	criteria provided, single submitter	tagSNP	rs878854424
Clinvar_Rec_11813	rs142609245	Pathogenic/Likely pathogenic	Inborn genetic diseases;MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency, nuclear type 1;not provided	RCV000624796;RCV000735413;RCV000504444;RCV000763470;RCV000239318	MeSH;MedGen;OMIM;OMIM	D030342;C0950123;MedGen;618246;MedGen;252010;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142609245
Clinvar_Rec_11814	rs565907504	Likely benign	Autoimmune lymphoproliferative syndrome	RCV000376398	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	tagSNP	rs565907504
Clinvar_Rec_11815	rs780552445	Uncertain significance	Neoplasm of stomach	RCV000662116	Human Phenotype Ontology;MeSH;MedGen;OMIM;SNOMED CT	HP;D013274;C0038356;613659;126824007	criteria provided, single submitter	tagSNP	rs780552445
Clinvar_Rec_11816	rs1559314420	Uncertain significance	Autoimmune lymphoproliferative syndrome type 2;Autoimmune lymphoproliferative syndrome, type 2A	RCV000686795;RCV000686795	MedGen;OMIM	C1519709;MedGen;603909	criteria provided, single submitter	tagSNP	rs1559314420
Clinvar_Rec_11817	rs886055414	Uncertain significance	Autoimmune lymphoproliferative syndrome	RCV000289953	MedGen;OMIM;Orphanet	C1328840;601859;ORPHA3261	criteria provided, single submitter	tagSNP	rs886055414
Clinvar_Rec_11818	rs6736435	Benign/Likely benign	Joubert syndrome;Joubert syndrome 14;not specified	RCV000268043;RCV000546760;RCV000118635	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM	HP;C0431399;ORPHA475;253175003;716997004;MedGen;614424;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6736435
Clinvar_Rec_11819	rs11894207	Benign/Likely benign	Joubert syndrome;not specified	RCV000323075;RCV000247187	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs113186360
Clinvar_Rec_11820	rs1085307170	Pathogenic	Primary pulmonary hypertension	RCV000488468	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307170
Clinvar_Rec_11821	rs1085307181	Pathogenic	Primary pulmonary hypertension	RCV000488828	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307181
Clinvar_Rec_11822	rs1085307274	Pathogenic	Primary pulmonary hypertension	RCV000488777	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307274
Clinvar_Rec_11823	rs1085307275	Pathogenic	Primary pulmonary hypertension	RCV000488458	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307275
Clinvar_Rec_11824	rs1060502581	Pathogenic	Primary pulmonary hypertension;Pulmonary arterial hypertension;not specified	RCV000461193;RCV001003700;RCV001000182	MedGen;OMIM;SNOMED CT;MedGen;Orphanet	C4552070;178600;26174007;Human Phenotype Ontology;C2973725;ORPHA182090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060502581
Clinvar_Rec_11825	rs1085307292	Pathogenic	Primary pulmonary hypertension	RCV000488720	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307292
Clinvar_Rec_11826	rs863223422	Pathogenic	Primary pulmonary hypertension	RCV000488818	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs863223422
Clinvar_Rec_11827	rs1085307354	Pathogenic	Pulmonary hypertension, primary, dexfenfluramine-associated	RCV000488873	MedGen	C1969342	no assertion criteria provided	tagSNP	rs1085307354
Clinvar_Rec_11828	rs1085307357	Pathogenic	Primary pulmonary hypertension	RCV000488860	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307357
Clinvar_Rec_11829	rs1085307371	Pathogenic	Primary pulmonary hypertension	RCV000488485	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	no assertion criteria provided	tagSNP	rs1085307371
Clinvar_Rec_11830	rs368593665	Uncertain significance	Primary pulmonary hypertension	RCV000327281	MedGen;OMIM;SNOMED CT	C4552070;178600;26174007	criteria provided, single submitter	tagSNP	rs368593665
Clinvar_Rec_11831	rs1553657427	Uncertain significance	Autoimmune lymphoproliferatiVe syndrome, type V	RCV000652445	MedGen;OMIM;Orphanet	C4015214;616100;ORPHA436159	criteria provided, single submitter	tagSNP	rs1553657427
Clinvar_Rec_11832	rs370411488	Pathogenic/Likely pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5;not provided	RCV000779296;RCV000493658	MedGen;OMIM	C4748754;618226;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370411488
Clinvar_Rec_11833	rs864309701	Pathogenic	Congenital cataract	RCV000203375	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001	no assertion criteria provided	tagSNP	rs864309701
Clinvar_Rec_11834	rs749616889	Uncertain significance	Fleck corneal dystrophy	RCV000362470	MedGen;OMIM;Orphanet;SNOMED CT	C1562113;121850;ORPHA98970;417183007	criteria provided, single submitter	tagSNP	rs749616889
Clinvar_Rec_11835	rs191601306	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000382177	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs191601306
Clinvar_Rec_11836	rs148069105	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000284006	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs148069105
Clinvar_Rec_11837	rs1559636157	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000779299	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1559636157
Clinvar_Rec_11838	rs3764913	Benign	Very long chain acyl-CoA dehydrogenase deficiency	RCV000403038	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs3764913
Clinvar_Rec_11839	rs3764913	Benign	Very long chain acyl-CoA dehydrogenase deficiency;not provided;not specified	RCV000328841;RCV000115027;RCV001000244	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2286963
Clinvar_Rec_11840	rs202107577	Pathogenic/Likely pathogenic	Congenital hyperammonemia, type I	RCV000669578	MedGen;OMIM;Orphanet;SNOMED CT	C4082171;237300;ORPHA147;62522004	criteria provided, multiple submitters, no conflicts	tagSNP	rs202107577
Clinvar_Rec_11841	rs886055561	Uncertain significance	Congenital hyperammonemia, type I	RCV000402906	MedGen;OMIM;Orphanet;SNOMED CT	C4082171;237300;ORPHA147;62522004	criteria provided, single submitter	tagSNP	rs886055561
Clinvar_Rec_11842	rs1405646805	Pathogenic	Familial cancer of breast	RCV000535461	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1405646805
Clinvar_Rec_11843	rs1425810692	Uncertain significance	Familial cancer of breast	RCV000693386	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	criteria provided, single submitter	tagSNP	rs1425810692
Clinvar_Rec_11844	rs34351934	Benign	Congenital ichthyosiform erythroderma;not specified	RCV000305663;RCV000248405	Human Phenotype Ontology;MedGen	HP;C0079583;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34351934
Clinvar_Rec_11845	rs797044906	Pathogenic	Inborn genetic diseases	RCV000190733	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs797044906
Clinvar_Rec_11846	rs1553667072	Likely pathogenic	Spondylometaphyseal dysplasia;Spondylometaphyseal dysplasia - Sutcliffe type	RCV000509582;RCV000575065	Human Phenotype Ontology;MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0700635;184250;ORPHA93346;MedGen;184255;ORPHA93315;254078005	criteria provided, single submitter	tagSNP	rs1553667072
Clinvar_Rec_11847	rs566222123	Uncertain significance	Schimke immuno-osseous dysplasia	RCV000374123	MedGen;OMIM;Orphanet	C0877024;242900;ORPHA1830	criteria provided, single submitter	LD derived	rs576450027
Clinvar_Rec_11848	rs568597668	Conflicting interpretations of pathogenicity	GRACILE syndrome;Leigh syndrome;Mitochondrial complex III deficiency, nuclear type 1;not provided;not specified	RCV000401551;RCV000311482;RCV000351273;RCV000913045;RCV000426045	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C1864002;603358;ORPHA53693;MedGen;256000;ORPHA506;29570005;MedGen;124000;ORPHA254902;MedGen	criteria provided, conflicting interpretations	LD derived	rs112329020
Clinvar_Rec_11849	rs1553596638	Likely pathogenic	GRACILE syndrome	RCV000673264	MedGen;OMIM;Orphanet	C1864002;603358;ORPHA53693	criteria provided, single submitter	tagSNP	rs1553596638
Clinvar_Rec_11850	rs1363475546	Likely pathogenic	GRACILE syndrome	RCV000670440	MedGen;OMIM;Orphanet	C1864002;603358;ORPHA53693	criteria provided, single submitter	tagSNP	rs1363475546
Clinvar_Rec_11851	rs121908102	Pathogenic/Likely pathogenic	Cholestanol storage disease;not provided	RCV000004487;RCV000518366	MedGen;OMIM;Orphanet;SNOMED CT	C0238052;213700;ORPHA909;63246000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908102
Clinvar_Rec_11852	rs566909060	Uncertain significance	Arthralgia;Odonto-onycho-dermal dysplasia;Palmoplantar keratoderma;Stiff skin;Tooth agenesis, selective, 4	RCV000415098;RCV000528997;RCV000415098;RCV000415098;RCV000528997	Human Phenotype Ontology;MedGen;OMIM;Orphanet;MedGen;MedGen;OMIM	HP;C0003862;MedGen;257980;ORPHA2721;Human Phenotype Ontology;C1862859;Human Phenotype Ontology;C3276815;MedGen;150400	criteria provided, single submitter	LD derived	rs149245953
Clinvar_Rec_11853	rs374910216	Likely pathogenic	Odonto-onycho-dermal dysplasia;Tooth agenesis, selective, 4;Tooth agenesis, selective, 4	RCV001047681;RCV000782362;RCV001047681	MedGen;OMIM;Orphanet;OMIM;OMIM	C0796093;257980;ORPHA2721;MedGen;150400;MedGen;150400	criteria provided, single submitter	tagSNP	rs374910216
Clinvar_Rec_11854	rs886055642	Uncertain significance	Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome;Selective tooth agenesis	RCV000305206;RCV000260696;RCV000359992	MedGen;OMIM;Orphanet;OMIM;Orphanet;MedGen	C0796093;257980;ORPHA2721;MedGen;224750;ORPHA50944;Human Phenotype Ontology;C1970308	criteria provided, single submitter	tagSNP	rs886055642
Clinvar_Rec_11855	rs552325173	Likely benign	Odonto-onycho-dermal dysplasia;Schopf-Schulz-Passarge syndrome;Selective tooth agenesis	RCV000362436;RCV000270312;RCV000327725	MedGen;OMIM;Orphanet;OMIM;Orphanet;MedGen	C0796093;257980;ORPHA2721;MedGen;224750;ORPHA50944;Human Phenotype Ontology;C1970308	criteria provided, single submitter	tagSNP	rs552325173
Clinvar_Rec_11856	rs537365256	Pathogenic	Myofibrillar myopathy 1;not provided	RCV000018316;RCV000056778	MedGen;OMIM;Orphanet	C1832370;601419;ORPHA98909;MedGen	no assertion criteria provided	LD derived	rs121913001
Clinvar_Rec_11857	rs76709099	Benign	Brachydactyly	RCV000302310	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0221357;43476002	criteria provided, single submitter	tagSNP	rs76709099
Clinvar_Rec_11858	rs569834938	Likely benign	Odonto-onycho-dermal dysplasia;Tooth agenesis, selective, 4	RCV000639739;RCV000639739	MedGen;OMIM;Orphanet;OMIM	C0796093;257980;ORPHA2721;MedGen;150400	criteria provided, single submitter	LD derived	rs553058408
Clinvar_Rec_11859	rs79018048	Benign	Brachydactyly;not provided	RCV000324835;RCV000967824	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0221357;43476002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs76578869
Clinvar_Rec_11860	rs79018048	Benign	Brachydactyly;not provided	RCV000293234;RCV000967825	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0221357;43476002;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs76479554
Clinvar_Rec_11861	rs34689457	Benign	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;not specified	RCV000538734;RCV000127202	MedGen;OMIM;Orphanet	C1969799;611291;ORPHA169079;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34689457
Clinvar_Rec_11862	rs886037607	Pathogenic	Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency	RCV000001036	MedGen	C1969800	no assertion criteria provided	tagSNP	rs886037607
Clinvar_Rec_11863	rs1247249384	Uncertain significance	Spinal muscular atrophy, distal, autosomal recessive, 5	RCV000650584	MedGen;OMIM;Orphanet	C3553989;614881;ORPHA314485	criteria provided, single submitter	tagSNP	rs1247249384
Clinvar_Rec_11864	rs540894280	Uncertain significance	Dilated cardiomyopathy 1I;Muscular dystrophy, limb-girdle, type 2R;Muscular dystrophy, limb-girdle, type 2R;Myofibrillar myopathy 1;Myofibrillar myopathy 1;not provided;not specified	RCV000515205;RCV000515205;RCV000805979;RCV000515205;RCV000805979;RCV000724220;RCV000037236	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C1858154;604765;MedGen;601419;ORPHA98909;MedGen;601419;ORPHA98909;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs397516692
Clinvar_Rec_11865	rs756434148	Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000619044;RCV000862243;RCV000601463	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756434148
Clinvar_Rec_11866	rs762808690	Uncertain significance	Dilated cardiomyopathy 1I	RCV000755704	MedGen;OMIM	C1858154;604765	criteria provided, single submitter	tagSNP	rs762808690
Clinvar_Rec_11867	rs886044329	Conflicting interpretations of pathogenicity	Muscular dystrophy, limb-girdle, type 2R;Myofibrillar myopathy 1;not provided	RCV000810748;RCV000810748;RCV000296486	MedGen;OMIM;Orphanet	C3809137;MedGen;601419;ORPHA98909;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886044329
Clinvar_Rec_11868	rs375101491	Uncertain significance	Three M syndrome	RCV000375995	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	tagSNP	rs375101491
Clinvar_Rec_11869	rs13010015	Benign	Three M syndrome	RCV000271198	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	LD derived	rs3087971
Clinvar_Rec_11870	rs199584687	Conflicting interpretations of pathogenicity	Three M syndrome;not provided	RCV000291489;RCV000934149	MedGen;Orphanet	CN073943;ORPHA2616;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199584687
Clinvar_Rec_11871	rs1039898	Benign	Three M syndrome	RCV000268251	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	tagSNP	rs1039898
Clinvar_Rec_11872	rs867534042	Uncertain significance	Waardenburg syndrome	RCV000388173	MedGen;Orphanet;SNOMED CT	C3266898;ORPHA3440;47434006	criteria provided, single submitter	tagSNP	rs867534042
Clinvar_Rec_11873	rs867534042	Uncertain significance	Waardenburg syndrome	RCV000279776	MedGen;Orphanet;SNOMED CT	C3266898;ORPHA3440;47434006	criteria provided, single submitter	tagSNP	rs867534042
Clinvar_Rec_11874	rs886055707	Uncertain significance	Alport syndrome	RCV000298023	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	tagSNP	rs886055707
Clinvar_Rec_11875	rs886055718	Uncertain significance	Alport syndrome	RCV000281323	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	tagSNP	rs886055718
Clinvar_Rec_11876	rs121912861	Pathogenic	Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not provided	RCV000787008;RCV000018950;RCV000681673	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4746547;104200;ORPHA88918;MedGen;203780;ORPHA88919;MedGen	criteria provided, single submitter	tagSNP	rs121912861
Clinvar_Rec_11877	rs771916354	Uncertain significance	Alport syndrome, autosomal recessive	RCV000669928	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919	criteria provided, single submitter	tagSNP	rs771916354
Clinvar_Rec_11878	rs370886041	Conflicting interpretations of pathogenicity	Alport syndrome;not provided	RCV000344211;RCV000943452	MedGen;Orphanet	C1567741;ORPHA63;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370886041
Clinvar_Rec_11879	rs373975901	Uncertain significance	Alport syndrome;Alport syndrome 3, autosomal dominant	RCV000374898;RCV000735745	MedGen;Orphanet;OMIM;Orphanet	C1567741;ORPHA63;MedGen;104200;ORPHA88918	criteria provided, single submitter	tagSNP	rs373975901
Clinvar_Rec_11880	rs1553750572	Likely pathogenic	Alport syndrome, autosomal recessive	RCV000674511	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919	criteria provided, single submitter	tagSNP	rs1553750572
Clinvar_Rec_11881	rs371334239	Pathogenic	Alport syndrome, autosomal recessive;not provided	RCV000589718;RCV001046549	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371334239
Clinvar_Rec_11882	rs11677877	Benign/Likely benign	Alport syndrome;not provided;not specified	RCV000357978;RCV000710808;RCV000244910	MedGen;Orphanet	C1567741;ORPHA63;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11677877
Clinvar_Rec_11883	rs11677877	Benign/Likely benign	Alport syndrome;Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not specified	RCV000267017;RCV000576551;RCV000576551;RCV000249936	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1567741;ORPHA63;MedGen;104200;ORPHA88918;MedGen;203780;ORPHA88919;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34505188
Clinvar_Rec_11884	rs11677877	Benign/Likely benign	Alport syndrome;Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not specified	RCV000375439;RCV000576304;RCV000576304;RCV000247022	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1567741;ORPHA63;MedGen;104200;ORPHA88918;MedGen;203780;ORPHA88919;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34019152
Clinvar_Rec_11885	rs772958162	Likely pathogenic	Alport syndrome, autosomal recessive;not provided	RCV000666502;RCV000681919	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919;MedGen	criteria provided, single submitter	tagSNP	rs772958162
Clinvar_Rec_11886	rs28381984	Benign	Alport syndrome;Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not provided;not specified	RCV000296144;RCV000576573;RCV000576573;RCV000710811;RCV000247531	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1567741;ORPHA63;MedGen;104200;ORPHA88918;MedGen;203780;ORPHA88919;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28381984
Clinvar_Rec_11887	rs1306992119	Likely pathogenic	Alport syndrome, autosomal recessive	RCV000672563	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919	criteria provided, single submitter	tagSNP	rs1306992119
Clinvar_Rec_11888	rs1553759665	Likely pathogenic	Alport syndrome, autosomal recessive	RCV000669916	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919	criteria provided, single submitter	tagSNP	rs1553759665
Clinvar_Rec_11889	rs868002181	Pathogenic	Alport syndrome, autosomal recessive;not provided	RCV000668107;RCV000517367	MedGen;OMIM;Orphanet	C4746745;203780;ORPHA88919;MedGen	criteria provided, single submitter	tagSNP	rs868002181
Clinvar_Rec_11890	rs865866667	Uncertain significance	Alport syndrome	RCV000287275	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	tagSNP	rs865866667
Clinvar_Rec_11891	rs765655100	Uncertain significance	Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not provided	RCV000449534;RCV000669241;RCV000991616	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4746547;104200;ORPHA88918;MedGen;203780;ORPHA88919;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs765655100
Clinvar_Rec_11892	rs886055748	Uncertain significance	Alport syndrome	RCV000319904	MedGen;Orphanet	C1567741;ORPHA63	criteria provided, single submitter	tagSNP	rs886055748
Clinvar_Rec_11893	rs753829320	Pathogenic	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	RCV000239619	MedGen;OMIM;Orphanet	C4310726;617086;ORPHA485421	no assertion criteria provided	tagSNP	rs753829320
Clinvar_Rec_11894	rs540235103	Uncertain significance	Thiamine Metabolism Dysfunction Syndrome	RCV000363787	MedGen	CN239434	criteria provided, single submitter	tagSNP	rs540235103
Clinvar_Rec_11895	rs144817990	Uncertain significance	Biotin-thiamine-responsive basal ganglia disease;not specified	RCV000806997;RCV000193057	MedGen;OMIM;Orphanet	C1843807;607483;ORPHA65284;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144817990
Clinvar_Rec_11896	rs114501363	Uncertain significance	Hepatic veno-occlusive disease-immunodeficiency syndrome	RCV000285486	MedGen;OMIM;Orphanet	C1856128;235550;ORPHA79124	criteria provided, single submitter	tagSNP	rs114501363
Clinvar_Rec_11897	rs193920808	Uncertain significance	Malignant tumor of prostate	RCV000149174	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920808
Clinvar_Rec_11898	rs886055768	Uncertain significance	Perlman syndrome	RCV000385635	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs886055768
Clinvar_Rec_11899	rs1553606124	Uncertain significance	Perlman syndrome	RCV000638484	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs1553606124
Clinvar_Rec_11900	rs1047265933	Uncertain significance	Perlman syndrome	RCV000686828	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs1047265933
Clinvar_Rec_11901	rs1559156477	Uncertain significance	Perlman syndrome	RCV000692400	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs1559156477
Clinvar_Rec_11902	rs1415584731	Uncertain significance	Perlman syndrome	RCV000539254	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs1415584731
Clinvar_Rec_11903	rs199879981	Uncertain significance	Perlman syndrome	RCV000638466	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs199879981
Clinvar_Rec_11904	rs767658588	Uncertain significance	Perlman syndrome	RCV000462192	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	tagSNP	rs767658588
Clinvar_Rec_11905	rs140122661	Benign/Likely benign	Perlman syndrome;not specified	RCV000325489;RCV000251804	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs148474013
Clinvar_Rec_11906	rs140122661	Likely benign	Perlman syndrome	RCV000365304	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, single submitter	LD derived	rs373401005
Clinvar_Rec_11907	rs557997730	Conflicting interpretations of pathogenicity	Perlman syndrome	RCV000532706	MedGen;OMIM;Orphanet	C0796113;267000;ORPHA2849	criteria provided, conflicting interpretations	LD derived	rs201020526
Clinvar_Rec_11908	rs387907096	Pathogenic	Microphthalmia, isolated 6	RCV000024076	MedGen;OMIM	C3150757;613517	no assertion criteria provided	tagSNP	rs387907096
Clinvar_Rec_11909	rs121909507	Pathogenic	Lethal multiple pterygium syndrome	RCV000020038	MedGen;OMIM;Orphanet;SNOMED CT	C1854678;253290;ORPHA33108;60192008	no assertion criteria provided	tagSNP	rs121909507
Clinvar_Rec_11910	rs886055783	Uncertain significance	Autosomal recessive multiple pterygium syndrome;Congenital Myasthenic Syndrome, Dominant/Recessive	RCV000399961;RCV000306524	MedGen;OMIM;Orphanet	C0265261;265000;ORPHA2990;MedGen	criteria provided, single submitter	tagSNP	rs886055783
Clinvar_Rec_11911	rs116740510	Uncertain significance	Leber congenital amaurosis	RCV000314496	MeSH;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001	criteria provided, single submitter	tagSNP	rs116740510
Clinvar_Rec_11912	rs754551985	Uncertain significance	Oguchi's disease;Retinitis Pigmentosa, Recessive	RCV000296094;RCV000388128	MedGen;OMIM;SNOMED CT	C4551824;258100;193687000;MedGen	criteria provided, single submitter	tagSNP	rs754551985
Clinvar_Rec_11913	rs34526305	Uncertain significance	Hyperbilirubinemia	RCV000147897	Human Phenotype Ontology;MedGen	HP;C0311468	criteria provided, single submitter	tagSNP	rs34526305
Clinvar_Rec_11914	rs34526305	Conflicting interpretations of pathogenicity	Hyperbilirubinemia;not provided;not specified	RCV000147898;RCV000963286;RCV000383880	Human Phenotype Ontology;MedGen	HP;C0311468;MedGen	criteria provided, conflicting interpretations	tagSNP	rs34526305
Clinvar_Rec_11915	rs28934877	Uncertain significance	Crigler-Najjar syndrome, type II;Gilbert's syndrome;UGT1A1-Related Disorders	RCV000013079;RCV000013080;RCV000779315	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C2931132;606785;ORPHA79235;68067009;MedGen;143500;27503000;na	criteria provided, single submitter	tagSNP	rs28934877
Clinvar_Rec_11916	rs150907698	Conflicting interpretations of pathogenicity	Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified	RCV000558809;RCV000312116;RCV000725390;RCV000370948	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150907698
Clinvar_Rec_11917	rs528369978	Likely benign	Collagen VI-related myopathy;not provided;not specified	RCV000335181;RCV000537415;RCV000376491	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs528369978
Clinvar_Rec_11918	rs890268146	Uncertain significance	Bethlem myopathy 1	RCV000545858	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs890268146
Clinvar_Rec_11919	rs34558385	Benign	Bethlem myopathy 1;Collagen VI-related myopathy;Ullrich congenital muscular dystrophy 1;not specified	RCV000576864;RCV000405566;RCV000576864;RCV000081002	MedGen;OMIM;OMIM	CN029274;158810;MedGen;254090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34558385
Clinvar_Rec_11920	rs34558385	Benign	Collagen VI-related myopathy;not provided;not specified	RCV000375437;RCV000710917;RCV000081018	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11690358
Clinvar_Rec_11921	rs34558385	Benign	Collagen VI-related myopathy;not provided;not specified	RCV000378826;RCV000710914;RCV000081014	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11683438
Clinvar_Rec_11922	rs34558385	Benign	Collagen VI-related myopathy;not provided;not specified	RCV000261782;RCV000710912;RCV000081008	MedGen	CN117976;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61729844
Clinvar_Rec_11923	rs145581705	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;not provided;not specified	RCV000359862;RCV000727109;RCV000592983	MedGen	CN117976;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145581705
Clinvar_Rec_11924	rs202092407	Conflicting interpretations of pathogenicity	Collagen VI-related myopathy;Inborn genetic diseases;not provided;not specified	RCV000344093;RCV000190770;RCV000525963;RCV000250883	MedGen;MedGen	CN117976;MeSH;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202092407
Clinvar_Rec_11925	rs140728855	Uncertain significance	Bethlem myopathy 1;not provided	RCV000794513;RCV000724744	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140728855
Clinvar_Rec_11926	rs1553553267	Pathogenic/Likely pathogenic	Bethlem myopathy 1;not provided	RCV000810824;RCV000596147	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553553267
Clinvar_Rec_11927	rs1559225974	Likely pathogenic	Bethlem myopathy 1	RCV000754721	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs1559225974
Clinvar_Rec_11928	rs1559239453	Uncertain significance	Bethlem myopathy 1	RCV000698415	MedGen;OMIM	CN029274;158810	criteria provided, single submitter	tagSNP	rs1559239453
Clinvar_Rec_11929	rs545073996	Uncertain significance	Hereditary sensory and autonomic neuropathy type II;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive	RCV000292555;RCV000400206;RCV000352153	MedGen;Orphanet	C0020072;ORPHA970;MedGen	criteria provided, single submitter	tagSNP	rs545073996
Clinvar_Rec_11930	rs189536509	Conflicting interpretations of pathogenicity	Hereditary sensory and autonomic neuropathy type II;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spastic Paraplegia, Recessive;not provided;not specified	RCV000349339;RCV000719655;RCV000313210;RCV000393106;RCV000871380;RCV000193912	MedGen;Orphanet	C0020072;ORPHA970;MedGen	criteria provided, conflicting interpretations	LD derived	rs143815273
Clinvar_Rec_11931	rs180177184	Pathogenic	Primary hyperoxaluria, type I	RCV000186289	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177184
Clinvar_Rec_11932	rs180177184	Pathogenic	Primary hyperoxaluria, type I	RCV000186288	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177184
Clinvar_Rec_11933	rs796052060	Pathogenic	Primary hyperoxaluria, type I	RCV000186295	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs796052060
Clinvar_Rec_11934	rs180177199	Pathogenic	Primary hyperoxaluria, type I	RCV000186296	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177199
Clinvar_Rec_11935	rs180177202	Pathogenic	Primary hyperoxaluria, type I	RCV000186297	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177202
Clinvar_Rec_11936	rs180177203	Pathogenic	Primary hyperoxaluria, type I	RCV000186298	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177203
Clinvar_Rec_11937	rs180177208	Pathogenic	Primary hyperoxaluria, type I	RCV000186300	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001	no assertion criteria provided	tagSNP	rs180177208
Clinvar_Rec_11938	rs376844297	Uncertain significance	Primary hyperoxaluria, type I;not provided	RCV000186301;RCV000346525	MedGen;OMIM;Orphanet;SNOMED CT	C0268164;259900;ORPHA93598;65520001;MedGen	criteria provided, single submitter	tagSNP	rs376844297
Clinvar_Rec_11939	rs147106773	Benign/Likely benign	Primary hyperoxaluria;not provided;not specified	RCV000269803;RCV000958903;RCV000253631	MedGen;Orphanet;SNOMED CT	C0020501;ORPHA416;17901006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147106773
Clinvar_Rec_11940	rs146994573	Conflicting interpretations of pathogenicity	Xanthinuria;not provided	RCV000273894;RCV000968296	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0220988;190919008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146994573
Clinvar_Rec_11941	rs781137664	Uncertain significance	Deficiency of xanthine oxidase	RCV000374223	MedGen;OMIM;Orphanet;SNOMED CT	C0268118;278300;ORPHA93601;124147007	criteria provided, single submitter	tagSNP	rs781137664
Clinvar_Rec_11942	rs587777753	Pathogenic	Spastic paraplegia 4, autosomal dominant	RCV000006017	MedGen;OMIM;Orphanet	C1866855;182601;ORPHA100985	no assertion criteria provided	tagSNP	rs587777753
Clinvar_Rec_11943	rs141944844	Conflicting interpretations of pathogenicity	Spastic paraplegia 4, autosomal dominant;Spastic paraplegia, autosomal dominant;not provided;not specified	RCV000462611;RCV000318635;RCV000857558;RCV000518068	MedGen;OMIM;Orphanet	C1866855;182601;ORPHA100985;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141944844
Clinvar_Rec_11944	rs6730400	Likely benign	Spastic paraplegia, autosomal dominant	RCV000356403	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs6730400
Clinvar_Rec_11945	rs147052682	Likely benign	Spastic paraplegia, autosomal dominant	RCV000393854	MedGen	CN239430	criteria provided, single submitter	tagSNP	rs147052682
Clinvar_Rec_11946	rs147052682	Likely benign	Spastic paraplegia, autosomal dominant	RCV000383698	MedGen	CN239430	criteria provided, single submitter	LD derived	rs141666739
Clinvar_Rec_11947	rs766425037	Pathogenic	Glaucoma, congenital;not provided	RCV000689498;RCV000255451	MedGen;Orphanet	C0020302;ORPHA98977;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs766425037
Clinvar_Rec_11948	rs140488687	Benign	Rasopathy;not provided;not specified	RCV000518973;RCV000858750;RCV000151922	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	LD derived	rs75877625
Clinvar_Rec_11949	rs140488687	Benign	Rasopathy;not provided;not specified	RCV000521504;RCV000858751;RCV000154848	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	LD derived	rs139592595
Clinvar_Rec_11950	rs6755527	Benign	Noonan syndrome	RCV000156994	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	no assertion criteria provided	LD derived	rs7577088
Clinvar_Rec_11951	rs958412	Likely benign	Gingival fibromatosis;Noonan syndrome	RCV000343245;RCV000307023	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	LD derived	rs6704656
Clinvar_Rec_11952	rs958412	Likely benign	Gingival fibromatosis;Noonan syndrome;not specified	RCV000271859;RCV000329110;RCV000192447	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34248802
Clinvar_Rec_11953	rs958412	Likely benign	Gingival fibromatosis;Noonan syndrome	RCV000356097;RCV000303815	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	LD derived	rs144104838
Clinvar_Rec_11954	rs958412	Benign	Noonan syndrome	RCV000156994	MeSH;MedGen;Orphanet;SNOMED CT	D009634;C0028326;ORPHA648;205824006	no assertion criteria provided	LD derived	rs7577088
Clinvar_Rec_11955	rs1043793	Likely benign	Gingival fibromatosis;Noonan syndrome	RCV000278864;RCV000397761	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs1043793
Clinvar_Rec_11956	rs886056004	Uncertain significance	Gingival fibromatosis;Noonan syndrome	RCV000397781;RCV000352558	Human Phenotype Ontology;MedGen;MedGen;Orphanet;SNOMED CT	HP;C0016049;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs886056004
Clinvar_Rec_11957	rs1176763588	Uncertain significance	Noonan syndrome 4	RCV000723318	MedGen;OMIM	C1853120;610733	no assertion criteria provided	tagSNP	rs1176763588
Clinvar_Rec_11958	rs137852813	Pathogenic	Noonan syndrome;Noonan syndrome 1;Noonan syndrome 4;Rasopathy;not provided	RCV000211854;RCV000856805;RCV000013730;RCV000554031;RCV000157691	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet	D009634;C0028326;ORPHA648;205824006;MedGen;163950;MedGen;610733;MedGen;ORPHA536391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs137852813
Clinvar_Rec_11959	rs137852813	Pathogenic	Inborn genetic diseases;Noonan syndrome;Noonan syndrome 4;Rasopathy;not provided	RCV000622587;RCV000208414;RCV000487454;RCV000539275;RCV000157690	MeSH;MedGen;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	D030342;C0950123;MeSH;C0028326;ORPHA648;205824006;MedGen;610733;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs137852813
Clinvar_Rec_11960	rs139592595	Benign	Rasopathy;not provided;not specified	RCV000521504;RCV000858751;RCV000154848	MedGen;Orphanet	CN166718;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs139592595
Clinvar_Rec_11961	rs879255655	Pathogenic	Short-rib thoracic dysplasia 1 with or without polydactyly;Short-rib thoracic dysplasia 15 with polydactyly	RCV000754098;RCV000239685	MedGen;OMIM;OMIM	C4551856;208500;MedGen;617088	no assertion criteria provided	tagSNP	rs879255655
Clinvar_Rec_11962	rs148006993	Uncertain significance	Sitosterolemia	RCV000318126	MedGen;Orphanet;SNOMED CT	C0342907;ORPHA2882;238104009	criteria provided, single submitter	tagSNP	rs148006993
Clinvar_Rec_11963	rs76970610	Likely benign	Leigh syndrome	RCV000263384	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs76970610
Clinvar_Rec_11964	rs149898744	Uncertain significance	Familial erythrocytosis	RCV000322297	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs149898744
Clinvar_Rec_11965	rs567851666	Likely benign	Familial erythrocytosis	RCV000366181	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs567851666
Clinvar_Rec_11966	rs769949241	Uncertain significance	Familial erythrocytosis	RCV000326608	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs769949241
Clinvar_Rec_11967	rs142534349	Uncertain significance	Familial erythrocytosis	RCV000341286	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs142534349
Clinvar_Rec_11968	rs570386928	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000166858	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	LD derived	rs542429591
Clinvar_Rec_11969	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000391820	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs6743994
Clinvar_Rec_11970	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000286183	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs8861
Clinvar_Rec_11971	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000311031	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs17035884
Clinvar_Rec_11972	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000347784	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs6715391
Clinvar_Rec_11973	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000259764	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs7596198
Clinvar_Rec_11974	rs6743994	Likely benign	Combined deficiency of factor V and factor VIII, 1	RCV000303416	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	LD derived	rs144674773
Clinvar_Rec_11975	rs886056115	Uncertain significance	Combined deficiency of factor V and factor VIII, 1	RCV000406345	MedGen;OMIM	C4551981;227300	criteria provided, single submitter	tagSNP	rs886056115
Clinvar_Rec_11976	rs886042806	Pathogenic	Multiple gastrointestinal atresias;not provided	RCV000398901;RCV000790708	MedGen;OMIM;Orphanet;SNOMED CT	C0220744;243150;ORPHA436252;95472001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886042806
Clinvar_Rec_11977	rs1553418566	Likely benign	Multiple gastrointestinal atresias	RCV000531837	MedGen;OMIM;Orphanet;SNOMED CT	C0220744;243150;ORPHA436252;95472001	criteria provided, single submitter	tagSNP	rs1553418566
Clinvar_Rec_11978	rs1553350951	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567918	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553350951
Clinvar_Rec_11979	rs63750913	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000771513;RCV000551509	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs63750913
Clinvar_Rec_11980	rs63750913	Uncertain significance	Hereditary cancer-predisposing syndrome;MSH2-related disorder	RCV000575601;RCV000723272	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;na	criteria provided, single submitter	tagSNP	rs63750913
Clinvar_Rec_11981	rs1410859610	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000536657	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1410859610
Clinvar_Rec_11982	rs1410859610	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000580549;RCV000698369	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1410859610
Clinvar_Rec_11983	rs786203424	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000771344;RCV000475241	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203424
Clinvar_Rec_11984	rs786203424	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000166723	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203424
Clinvar_Rec_11985	rs1024743168	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000546763	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1024743168
Clinvar_Rec_11986	rs747730026	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000566637;RCV000458205	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747730026
Clinvar_Rec_11987	rs747730026	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000582774;RCV000611861	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747730026
Clinvar_Rec_11988	rs1553352449	Likely benign	Hereditary nonpolyposis colon cancer	RCV000630252	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553352449
Clinvar_Rec_11989	rs587779977	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000695011	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs587779977
Clinvar_Rec_11990	rs587779977	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV001017743;RCV000629878;RCV000115543	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587779977
Clinvar_Rec_11991	rs1254906246	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000559741	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1254906246
Clinvar_Rec_11992	rs876659344	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000218659;RCV000630367;RCV000586313	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659344
Clinvar_Rec_11993	rs587779189	Pathogenic	Lynch syndrome	RCV000076739	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779189
Clinvar_Rec_11994	rs863224342	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV000221228;RCV000198287;RCV000605122	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224342
Clinvar_Rec_11995	rs63751115	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000773887	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs63751115
Clinvar_Rec_11996	rs63751115	Pathogenic	Lynch syndrome	RCV000076742	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751115
Clinvar_Rec_11997	rs1553352511	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562750	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553352511
Clinvar_Rec_11998	rs876659918	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I	RCV000214812;RCV001067169;RCV000659880	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435	criteria provided, conflicting interpretations	tagSNP	rs876659918
Clinvar_Rec_11999	rs1553366615	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000573993	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553366615
Clinvar_Rec_12000	rs587779101	Likely pathogenic	Lynch syndrome I	RCV000490580	MedGen;OMIM	C2936783;120435	reviewed by expert panel	tagSNP	rs587779101
Clinvar_Rec_12001	rs587779101	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV001012630	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587779101
Clinvar_Rec_12002	rs730881763	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000219973;RCV000813805;RCV000160599	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881763
Clinvar_Rec_12003	rs730881763	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000163402;RCV000679301;RCV000507870	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881763
Clinvar_Rec_12004	rs1553369131	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000558976	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553369131
Clinvar_Rec_12005	rs1553369135	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000568803;RCV001042581	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553369135
Clinvar_Rec_12006	rs373226409	Conflicting interpretations of pathogenicity	B lymphoblastic leukemia lymphoma with hyperdiploidy;Hereditary cancer-predisposing syndrome;Lynch syndrome I;not provided	RCV000761096;RCV000491763;RCV000410402;RCV000160602	MedGen;SNOMED CT;Orphanet;SNOMED CT;OMIM	C2698311;450953000;MedGen;ORPHA140162;699346009;MedGen;120435;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373226409
Clinvar_Rec_12007	rs373226409	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000213584;RCV000795839	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs373226409
Clinvar_Rec_12008	rs786201910	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000164433	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201910
Clinvar_Rec_12009	rs878853736	Pathogenic	Lynch syndrome	RCV000232271	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs878853736
Clinvar_Rec_12010	rs786203816	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000567300;RCV000819295	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203816
Clinvar_Rec_12011	rs786203816	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000167288;RCV000550915;RCV000478326	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786203816
Clinvar_Rec_12012	rs587779287	Pathogenic	Lynch syndrome	RCV000074921	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587779287
Clinvar_Rec_12013	rs1553333635	Pathogenic/Likely pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV001040765;RCV000589697	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553333635
Clinvar_Rec_12014	rs1553333674	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001021488;RCV000629848	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553333674
Clinvar_Rec_12015	rs1558394245	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000705856	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558394245
Clinvar_Rec_12016	rs876661174	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000580361;RCV000804632	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876661174
Clinvar_Rec_12017	rs786202126	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164783	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786202126
Clinvar_Rec_12018	rs1553333682	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000569481	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553333682
Clinvar_Rec_12019	rs1558394336	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000696948	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1558394336
Clinvar_Rec_12020	rs764786814	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000167431;RCV000820103	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs764786814
Clinvar_Rec_12021	rs876660118	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000217290	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660118
Clinvar_Rec_12022	rs61996314	Benign/Likely benign	Gonadotropin-independent familial sexual precocity;Hypergonadotropic hypogonadism;Leydig cell agenesis;not provided	RCV000385273;RCV000348259;RCV000293373;RCV000967950	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0342549;176410;ORPHA3000;237818003;Human Phenotype Ontology;C0948896;MedGen;238320;ORPHA755;56212008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61996314
Clinvar_Rec_12023	rs200957137	Uncertain significance	Pitt-Hopkins-like syndrome	RCV000312357	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	tagSNP	rs200957137
Clinvar_Rec_12024	rs199546979	Conflicting interpretations of pathogenicity	Obesity;not provided	RCV000787967;RCV000522614	Human Phenotype Ontology;MeSH;MedGen;OMIM;SNOMED CT	HP;D009765;C0028754;601665;414916001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199546979
Clinvar_Rec_12025	rs193267438	Likely benign	Pitt-Hopkins-like syndrome 2	RCV000209863	MedGen;OMIM	C3280479;614325	criteria provided, single submitter	tagSNP	rs193267438
Clinvar_Rec_12026	rs1442195856	Uncertain significance	Pitt-Hopkins-like syndrome 2	RCV000705070	MedGen;OMIM	C3280479;614325	criteria provided, single submitter	tagSNP	rs1442195856
Clinvar_Rec_12027	rs116236999	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Pitt-Hopkins-like syndrome;not provided;not specified	RCV000717618;RCV000306981;RCV000231057;RCV000117837	MedGen;Orphanet	C2711754;MedGen;ORPHA221150;MedGen	criteria provided, conflicting interpretations	tagSNP	rs116236999
Clinvar_Rec_12028	rs369183287	Uncertain significance	Inborn genetic diseases	RCV000622290	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs369183287
Clinvar_Rec_12029	rs186097623	Uncertain significance	Pitt-Hopkins-like syndrome	RCV000295876	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	tagSNP	rs186097623
Clinvar_Rec_12030	rs187844171	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000719093;RCV000712450	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs201837579
Clinvar_Rec_12031	rs200251205	Uncertain significance	Pitt-Hopkins-like syndrome	RCV000372830	MedGen;Orphanet	C4751168;ORPHA221150	criteria provided, single submitter	tagSNP	rs200251205
Clinvar_Rec_12032	rs886056200	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000270177	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs886056200
Clinvar_Rec_12033	rs886056204	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000283663	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs886056204
Clinvar_Rec_12034	rs769112221	Uncertain significance	Bardet-Biedl syndrome;not specified	RCV000638345;RCV000501700	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769112221
Clinvar_Rec_12035	rs761533681	Pathogenic/Likely pathogenic	Inborn genetic diseases;Spastic tetraplegia, thin corpus callosum, and progressive microcephaly;not provided	RCV000623105;RCV000412526;RCV000436990	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;616657;ORPHA447997;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761533681
Clinvar_Rec_12036	rs886056237	Uncertain significance	Congenital Myasthenic Syndrome, Recessive	RCV000287015	MedGen	CN239337	criteria provided, single submitter	tagSNP	rs886056237
Clinvar_Rec_12037	rs886056249	Uncertain significance	Congenital Myasthenic Syndrome, Recessive	RCV000337510	MedGen	CN239337	criteria provided, single submitter	tagSNP	rs886056249
Clinvar_Rec_12038	rs886056254	Uncertain significance	Congenital Myasthenic Syndrome, Recessive	RCV000316165	MedGen	CN239337	criteria provided, single submitter	tagSNP	rs886056254
Clinvar_Rec_12039	rs886056256	Uncertain significance	Congenital Myasthenic Syndrome, Recessive	RCV000341348	MedGen	CN239337	criteria provided, single submitter	tagSNP	rs886056256
Clinvar_Rec_12040	rs200837270	Pathogenic	Birbeck granule deficiency	RCV000005665	MedGen;OMIM	C3150657;613393	no assertion criteria provided	tagSNP	rs200837270
Clinvar_Rec_12041	rs146624706	Likely benign	Methylmalonic acidemia	RCV000382320	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;C537358;C0268583;42393006	criteria provided, single submitter	tagSNP	rs146624706
Clinvar_Rec_12042	rs886042389	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B;Qualitative or quantitative defects of dysferlin;not provided	RCV000292426;RCV001070518;RCV000725084	MedGen;OMIM;Orphanet;Orphanet	C1850889;253601;ORPHA268;MedGen;ORPHA207073;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886042389
Clinvar_Rec_12043	rs1553531841	Uncertain significance	Qualitative or quantitative defects of dysferlin	RCV000558474	MedGen;Orphanet	C2931687;ORPHA207073	criteria provided, single submitter	tagSNP	rs1553531841
Clinvar_Rec_12044	rs185119682	Uncertain significance	Qualitative or quantitative defects of dysferlin;not provided	RCV000535143;RCV000335981	MedGen;Orphanet	C2931687;ORPHA207073;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs185119682
Clinvar_Rec_12045	rs1553541329	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	RCV000668154	MedGen;OMIM;Orphanet	C1850889;253601;ORPHA268	criteria provided, single submitter	tagSNP	rs1553541329
Clinvar_Rec_12046	rs1553550862	Uncertain significance	Arthralgia;EMG: myopathic abnormalities;Muscle weakness;Myalgia	RCV000626761;RCV000626761;RCV000626761;RCV000626761	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen	HP;C0003862;Human Phenotype Ontology;C4021726;Human Phenotype Ontology;C0151786;Human Phenotype Ontology;C0231528	criteria provided, single submitter	tagSNP	rs1553550862
Clinvar_Rec_12047	rs886042827	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B;not provided	RCV000359987;RCV000725414	MedGen;OMIM;Orphanet	C1850889;253601;ORPHA268;MedGen	criteria provided, single submitter	tagSNP	rs886042827
Clinvar_Rec_12048	rs1442583354	Uncertain significance	Qualitative or quantitative defects of dysferlin	RCV000647990	MedGen;Orphanet	C2931687;ORPHA207073	criteria provided, single submitter	tagSNP	rs1442583354
Clinvar_Rec_12049	rs1380642629	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	RCV000673436	MedGen;OMIM;Orphanet	C1850889;253601;ORPHA268	criteria provided, single submitter	tagSNP	rs1380642629
Clinvar_Rec_12050	rs886044422	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B;not provided	RCV000291296;RCV000726461	MedGen;OMIM;Orphanet	C1850889;253601;ORPHA268;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886044422
Clinvar_Rec_12051	rs748158586	Likely benign	Alstrom syndrome	RCV000548578	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs748158586
Clinvar_Rec_12052	rs746923506	Uncertain significance	Alstrom syndrome;not provided	RCV000203691;RCV000786092	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746923506
Clinvar_Rec_12053	rs1558667882	Pathogenic	Alstrom syndrome	RCV000686028	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs1558667882
Clinvar_Rec_12054	rs1473611414	Pathogenic	Alstrom syndrome	RCV000503366	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1473611414
Clinvar_Rec_12055	rs757722767	Likely pathogenic	Alstrom syndrome	RCV000665005	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs757722767
Clinvar_Rec_12056	rs201959964	Uncertain significance	Alstrom syndrome	RCV000666649	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs201959964
Clinvar_Rec_12057	rs199638718	Likely benign	Alstrom syndrome;not provided	RCV000539940;RCV000827029	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199638718
Clinvar_Rec_12058	rs267599450	Uncertain significance	Alstrom syndrome	RCV000669428	MedGen;OMIM;Orphanet;SNOMED CT	C0268425;203800;ORPHA64;63702009	criteria provided, single submitter	tagSNP	rs267599450
Clinvar_Rec_12059	rs863223949	Pathogenic	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency;Mitochondrial DNA-depletion syndrome 3, hepatocerebral;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;not provided	RCV000601807;RCV000239539;RCV000239503;RCV000196566	MedGen;Orphanet;OMIM;OMIM;Orphanet	CN924908;ORPHA279934;MedGen;251880;MedGen;617070;ORPHA329314;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863223949
Clinvar_Rec_12060	rs886037615	Pathogenic	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	RCV000008634	MedGen;OMIM	C3151513;251880	no assertion criteria provided	tagSNP	rs886037615
Clinvar_Rec_12061	rs145857843	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000534541;RCV000534541;RCV000534541	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs145857843
Clinvar_Rec_12062	rs765192491	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000707636;RCV000707636;RCV000707636	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs765192491
Clinvar_Rec_12063	rs775948550	Uncertain significance	Parkinson Disease, Dominant	RCV000353166	MedGen	CN239359	criteria provided, single submitter	tagSNP	rs775948550
Clinvar_Rec_12064	rs527501593	Uncertain significance	Vitamin K-Dependent Clotting Factors	RCV000397076	MedGen	CN239236	criteria provided, single submitter	LD derived	rs553827130
Clinvar_Rec_12065	rs527501593	Uncertain significance	Vitamin K-Dependent Clotting Factors	RCV000301164	MedGen	CN239236	criteria provided, single submitter	LD derived	rs572084939
Clinvar_Rec_12066	rs541110574	Uncertain significance	Salt and pepper developmental regression syndrome	RCV000346289	MedGen;OMIM;Orphanet;Orphanet	C1836824;609056;ORPHA171714;ORPHA370933	criteria provided, single submitter	LD derived	rs531229046
Clinvar_Rec_12067	rs1060503497	Uncertain significance	Spastic paraplegia 31, autosomal dominant	RCV000473114	MedGen;OMIM;Orphanet	C1853247;610250;ORPHA101011	criteria provided, single submitter	tagSNP	rs1060503497
Clinvar_Rec_12068	rs121918263	Pathogenic	Spastic paraplegia 31, autosomal dominant	RCV000001940	MedGen;OMIM;Orphanet	C1853247;610250;ORPHA101011	criteria provided, single submitter	tagSNP	rs121918263
Clinvar_Rec_12069	rs182729595	Uncertain significance	Pheochromocytoma	RCV000320768	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs182729595
Clinvar_Rec_12070	rs3770239	Benign	Pheochromocytoma	RCV000404722	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs3770239
Clinvar_Rec_12071	rs886056445	Uncertain significance	Pheochromocytoma	RCV000363418	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs886056445
Clinvar_Rec_12072	rs13022177	Likely benign	Pheochromocytoma	RCV000323747	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	criteria provided, single submitter	tagSNP	rs13022177
Clinvar_Rec_12073	rs886056463	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000335688	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886056463
Clinvar_Rec_12074	rs142729495	Conflicting interpretations of pathogenicity	Retinitis Pigmentosa, Dominant;not provided;not specified	RCV000348270;RCV000950082;RCV000173853	MedGen	CN239354;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142729495
Clinvar_Rec_12075	rs886056468	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000372051	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886056468
Clinvar_Rec_12076	rs777167557	Uncertain significance	Jalili syndrome	RCV000328942	MedGen;OMIM;Orphanet	C3495589;217080;ORPHA1873	criteria provided, single submitter	tagSNP	rs777167557
Clinvar_Rec_12077	rs113994172	Pathogenic	Cd8 deficiency, familial	RCV000032162	MedGen;OMIM;Orphanet	C1837065;608957;ORPHA169085	no assertion criteria provided	tagSNP	rs113994172
Clinvar_Rec_12078	rs777509481	Pathogenic	Achromatopsia;Achromatopsia 2	RCV001002957;RCV000392354	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0152200;ORPHA49382;56852002;MedGen;216900	criteria provided, single submitter	tagSNP	rs777509481
Clinvar_Rec_12079	rs746901363	Uncertain significance	Achromatopsia	RCV000345154	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0152200;ORPHA49382;56852002	criteria provided, single submitter	tagSNP	rs746901363
Clinvar_Rec_12080	rs145484019	Uncertain significance	Multiple sulfatase deficiency	RCV000323923	MedGen;OMIM;Orphanet;SNOMED CT	C0268263;272200;ORPHA585;54898003	criteria provided, single submitter	tagSNP	rs145484019
Clinvar_Rec_12081	rs137852845	Pathogenic	Multiple sulfatase deficiency	RCV000002784	MedGen;OMIM;Orphanet;SNOMED CT	C0268263;272200;ORPHA585;54898003	criteria provided, single submitter	tagSNP	rs137852845
Clinvar_Rec_12082	rs878853172	Pathogenic	Gillespie syndrome	RCV000224993	MedGen;OMIM;Orphanet;SNOMED CT	C0431401;206700;ORPHA1065;253176002	no assertion criteria provided	tagSNP	rs878853172
Clinvar_Rec_12083	rs199698357	Conflicting interpretations of pathogenicity	Spinocerebellar Ataxia, Dominant;not provided	RCV000363994;RCV000415780	MedGen;Orphanet	CN227858;ORPHA99;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199698357
Clinvar_Rec_12084	rs182840163	Conflicting interpretations of pathogenicity	Spinocerebellar Ataxia, Dominant;Spinocerebellar ataxia type 15/16;not provided;not specified	RCV000262699;RCV000625898;RCV000881113;RCV000298823	MedGen;Orphanet;Orphanet	CN227858;ORPHA99;MedGen;ORPHA98769;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182840163
Clinvar_Rec_12085	rs199476325	Conflicting interpretations of pathogenicity	Cardiomyopathy;Long QT syndrome;Rippling muscle disease 2;not provided	RCV000770194;RCV000560643;RCV000234023;RCV000024415	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MeSH;C0023976;9651007;MedGen;606072;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199476325
Clinvar_Rec_12086	rs552591056	Conflicting interpretations of pathogenicity	Cardiomyopathy;Cardiovascular phenotype;not provided	RCV000769181;RCV000617947;RCV000734249	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	LD derived	rs559206877
Clinvar_Rec_12087	rs552591056	Conflicting interpretations of pathogenicity	Cardiomyopathy;Long QT syndrome;not specified	RCV000769180;RCV001037438;RCV000157832	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MeSH;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	LD derived	rs559206877
Clinvar_Rec_12088	rs1553625836	Pathogenic	Mental retardation, autosomal dominant 23	RCV000505241	MedGen;OMIM;Orphanet	C3810406;615761;ORPHA404440	no assertion criteria provided	tagSNP	rs1553625836
Clinvar_Rec_12089	rs786205705	Pathogenic	Severe congenital neutropenia	RCV000170604	Human Phenotype Ontology;MedGen;Orphanet	HP;C1853118;ORPHA42738	criteria provided, single submitter	tagSNP	rs786205705
Clinvar_Rec_12090	rs774018674	Uncertain significance	Atrioventricular septal defect 2	RCV000543058	MedGen;OMIM	C1853508;606217	criteria provided, single submitter	tagSNP	rs774018674
Clinvar_Rec_12091	rs35972647	Benign	History of neurodevelopmental disorder;not provided	RCV000716198;RCV000713352	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35972647
Clinvar_Rec_12092	rs797046052	Likely pathogenic	Pontocerebellar hypoplasia type 2B	RCV000193111	MedGen;OMIM	C2676466;612389	criteria provided, single submitter	tagSNP	rs797046052
Clinvar_Rec_12093	rs886057911	Uncertain significance	Pontoneocerebellar hypoplasia	RCV000264973	MedGen;SNOMED CT	C1261175;373666002	criteria provided, single submitter	tagSNP	rs886057911
Clinvar_Rec_12094	rs299643	Benign	Pontoneocerebellar hypoplasia	RCV000301498	MedGen;SNOMED CT	C1261175;373666002	criteria provided, single submitter	tagSNP	rs299643
Clinvar_Rec_12095	rs397516813	Pathogenic	LEOPARD syndrome 2;Noonan syndrome;Rasopathy;not provided	RCV000987116;RCV000037671;RCV000473341;RCV000159081	MedGen;OMIM;MedGen;Orphanet;SNOMED CT;Orphanet	C1969056;611554;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs397516813
Clinvar_Rec_12096	rs149883381	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;not provided;not specified	RCV000330130;RCV000621091;RCV000524592;RCV000432403	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149883381
Clinvar_Rec_12097	rs570836197	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 5;not provided	RCV000642421;RCV000183937	MedGen;OMIM	C1858379;604400;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs570836197
Clinvar_Rec_12098	rs1559361776	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 5	RCV000691674	MedGen;OMIM	C1858379;604400	criteria provided, single submitter	tagSNP	rs1559361776
Clinvar_Rec_12099	rs776147178	Uncertain significance	Cardiomyopathy	RCV000774496	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs776147178
Clinvar_Rec_12100	rs1553603641	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 5	RCV000642411	MedGen;OMIM	C1858379;604400	criteria provided, single submitter	tagSNP	rs1553603641
Clinvar_Rec_12101	rs886058046	Uncertain significance	Xeroderma pigmentosum	RCV000333132	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs886058046
Clinvar_Rec_12102	rs1168796234	Uncertain significance	Orofaciodigital syndrome 18	RCV000662172	MedGen;OMIM;Orphanet	C4693651;617927;ORPHA508501	criteria provided, single submitter	tagSNP	rs1168796234
Clinvar_Rec_12103	rs149013704	Likely benign	C syndrome	RCV000370804	MedGen;OMIM;Orphanet	C0796095;211750;ORPHA1308	criteria provided, single submitter	tagSNP	rs149013704
Clinvar_Rec_12104	rs369682226	Uncertain significance	C syndrome	RCV000259685	MedGen;OMIM;Orphanet	C0796095;211750;ORPHA1308	criteria provided, single submitter	tagSNP	rs369682226
Clinvar_Rec_12105	rs776194035	Uncertain significance	Adams-Oliver syndrome;not provided	RCV000325856;RCV000174393	MedGen;Orphanet;SNOMED CT	C0265268;ORPHA974;34748004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776194035
Clinvar_Rec_12106	rs727503968	Pathogenic	Nephronophthisis;not provided	RCV000707207;RCV000174030	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs727503968
Clinvar_Rec_12107	rs121918245	Pathogenic	Senior-Loken syndrome 5	RCV000001908	MedGen;OMIM	C1836517;609254	no assertion criteria provided	tagSNP	rs121918245
Clinvar_Rec_12108	rs1474058708	Pathogenic	Nephronophthisis;Senior-Loken syndrome 5	RCV001050356;RCV000001907	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0687120;ORPHA655;204958008;MedGen;609254	criteria provided, single submitter	tagSNP	rs1474058708
Clinvar_Rec_12109	rs1553768108	Uncertain significance	Familial hypocalciuric hypercalcemia;Hypocalcemia, autosomal dominant 1;not provided	RCV000691702;RCV000691702;RCV000518357	MedGen;Orphanet;SNOMED CT;OMIM	C1809471;ORPHA405;190868007;MedGen;601198;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553768108
Clinvar_Rec_12110	rs201955278	Likely benign	Familial hypocalciuric hypercalcemia;Familial isolated hypoparathyroidism;Hypocalcemia;Inborn genetic diseases;Neonatal severe hyperparathyroidism;not provided	RCV000369153;RCV000306403;RCV000363520;RCV001012622;RCV000397082;RCV000560070	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;MedGen;OMIM;Orphanet	C1809471;ORPHA405;190868007;MedGen;146200;ORPHA2238;Human Phenotype Ontology;C0020598;MeSH;C0950123;MedGen;239200;ORPHA417;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201955278
Clinvar_Rec_12111	rs387906781	Pathogenic/Likely pathogenic	Aortic aneurysm, familial thoracic 7;Thoracic aortic aneurysm and aortic dissection	RCV000023044;RCV000603875	MedGen;OMIM;Orphanet	C3151077;613780;MedGen;ORPHA91387	no assertion criteria provided	tagSNP	rs387906781
Clinvar_Rec_12112	rs143258617	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000618522;RCV000279998;RCV000868827	MedGen;Orphanet	CN230736;MedGen;ORPHA91387;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143258617
Clinvar_Rec_12113	rs367629715	Likely benign	Cardiovascular phenotype	RCV000620171	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs367629715
Clinvar_Rec_12114	rs368417112	Uncertain significance	Aortic aneurysm, familial thoracic 7;not provided	RCV000814496;RCV000762385	MedGen;OMIM	C3151077;613780;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368417112
Clinvar_Rec_12115	rs375456836	Uncertain significance	Aortic aneurysm, familial thoracic 7	RCV000231427	MedGen;OMIM	C3151077;613780	criteria provided, single submitter	tagSNP	rs375456836
Clinvar_Rec_12116	rs778050996	Conflicting interpretations of pathogenicity	Aortic aneurysm, familial thoracic 7	RCV000755687	MedGen;OMIM	C3151077;613780	criteria provided, conflicting interpretations	tagSNP	rs778050996
Clinvar_Rec_12117	rs886057871	Uncertain significance	Orotic aciduria	RCV000404632	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	tagSNP	rs886057871
Clinvar_Rec_12118	rs554810943	Uncertain significance	Orotic aciduria	RCV000387087	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	HP;C0268128;258900;ORPHA30;47641009;90093009	criteria provided, single submitter	tagSNP	rs554810943
Clinvar_Rec_12119	rs387906629	Pathogenic	Acute myeloid leukemia;Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Leukemia, acute myeloid, susceptibility to;not provided	RCV000445214;RCV000022559;RCV000502442;RCV000984831	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	HP;D015470;C0023467;601626;ORPHA519;17788007;MedGen;614172;ORPHA228423;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906629
Clinvar_Rec_12120	rs137992024	Likely benign	Acyl-CoA dehydrogenase family, member 9, deficiency of	RCV000290940	MedGen;OMIM;Orphanet	C4747517;611126;ORPHA99901	criteria provided, single submitter	LD derived	rs116106966
Clinvar_Rec_12121	rs387906242	Benign/Likely benign	Acyl-CoA dehydrogenase family, member 9, deficiency of;not specified	RCV000001073;RCV000201519	MedGen;OMIM;Orphanet	C4747517;611126;ORPHA99901;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387906242
Clinvar_Rec_12122	rs886057960	Uncertain significance	Bernard Soulier syndrome	RCV000300472	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0005129;231200;ORPHA274;234478007;54569005	criteria provided, single submitter	tagSNP	rs886057960
Clinvar_Rec_12123	rs121918036	Pathogenic	Bernard-Soulier syndrome type C	RCV000014485	MedGen	C1856448	no assertion criteria provided	tagSNP	rs121918036
Clinvar_Rec_12124	rs148626512	Uncertain significance	Cranioectodermal dysplasia 1	RCV000637014	MedGen;OMIM	C0432235;218330	criteria provided, single submitter	tagSNP	rs148626512
Clinvar_Rec_12125	rs140058289	Likely benign	Familial benign pemphigus	RCV000396533	MedGen;OMIM;Orphanet;SNOMED CT	C0085106;169600;ORPHA2841;79468000	criteria provided, single submitter	LD derived	rs200037424
Clinvar_Rec_12126	rs114780172	Likely benign	Familial benign pemphigus	RCV000292962	MedGen;OMIM;Orphanet;SNOMED CT	C0085106;169600;ORPHA2841;79468000	criteria provided, single submitter	LD derived	rs114319700
Clinvar_Rec_12127	rs142717565	Uncertain significance	Meckel-Gruber syndrome;Nephronophthisis;Renal-hepatic-pancreatic dysplasia 1	RCV000355084;RCV000301526;RCV000260312	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM	C0265215;ORPHA564;29076005;Human Phenotype Ontology;C0687120;ORPHA655;204958008;MedGen;208540	criteria provided, single submitter	LD derived	rs144731534
Clinvar_Rec_12128	rs374052333	Likely pathogenic	Epileptic encephalopathy, early infantile, 44;Epileptic encephalopathy, early infantile, 44;Spinocerebellar ataxia, autosomal recessive 24	RCV000255198;RCV000626057;RCV000626057	MedGen;OMIM;OMIM;OMIM	C4310700;617132;MedGen;617132;MedGen;617133	criteria provided, single submitter	tagSNP	rs374052333
Clinvar_Rec_12129	rs886058000	Uncertain significance	Meckel-Gruber syndrome;Nephronophthisis;Renal-hepatic-pancreatic dysplasia 1	RCV000302188;RCV000340692;RCV000396381	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM	C0265215;ORPHA564;29076005;Human Phenotype Ontology;C0687120;ORPHA655;204958008;MedGen;208540	criteria provided, single submitter	tagSNP	rs886058000
Clinvar_Rec_12130	rs758927671	Uncertain significance	Nephronophthisis;not provided	RCV000801067;RCV000728715	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0687120;ORPHA655;204958008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758927671
Clinvar_Rec_12131	rs886058011	Uncertain significance	Cataract (disease)	RCV000268770	Human Phenotype Ontology;MeSH;MedGen;Orphanet	HP;D002386;C0086543;ORPHA98640	criteria provided, single submitter	tagSNP	rs886058011
Clinvar_Rec_12132	rs104893685	Pathogenic	Cataract 12, multiple types;not provided	RCV000006961;RCV000056969	MedGen;OMIM	C3808115;611597;MedGen	no assertion criteria provided	tagSNP	rs104893685
Clinvar_Rec_12133	rs121918680	Pathogenic	Atransferrinemia	RCV000013458	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0521802;209300;ORPHA1195	no assertion criteria provided	tagSNP	rs121918680
Clinvar_Rec_12134	rs886037917	Pathogenic	Myopathy, myofibrillar, 7	RCV000240807	MedGen;OMIM;Orphanet	C4310711;617114;ORPHA496686	no assertion criteria provided	tagSNP	rs886037917
Clinvar_Rec_12135	rs538524461	Uncertain significance	Propionic acidemia;not specified	RCV001061662;RCV000507958	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201984177
Clinvar_Rec_12136	rs538524461	Benign	Propionic acidemia	RCV000032134	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	no assertion criteria provided	LD derived	rs201984177
Clinvar_Rec_12137	rs1553774884	Likely pathogenic	Propionic acidemia	RCV000673483	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, single submitter	tagSNP	rs1553774884
Clinvar_Rec_12138	rs886058019	Uncertain significance	Propionic acidemia	RCV000372795	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C0268579;606054;ORPHA35	criteria provided, multiple submitters, no conflicts	tagSNP	rs886058019
Clinvar_Rec_12139	rs553378460	Conflicting interpretations of pathogenicity	Global developmental delay;Hyperammonemia;not provided	RCV000626700;RCV000626700;RCV000634865	Human Phenotype Ontology;MedGen;MedGen	HP;C0557874;Human Phenotype Ontology;C0220994;MedGen	criteria provided, conflicting interpretations	LD derived	rs180982841
Clinvar_Rec_12140	rs553378460	Conflicting interpretations of pathogenicity	Global developmental delay;Hyperammonemia;Propionic acidemia;not provided	RCV000626699;RCV000626699;RCV000392658;RCV000859703	Human Phenotype Ontology;MedGen;MedGen;MedGen;OMIM;Orphanet	HP;C0557874;Human Phenotype Ontology;C0220994;Human Phenotype Ontology;C0268579;606054;ORPHA35;MedGen	criteria provided, conflicting interpretations	LD derived	rs145628302
Clinvar_Rec_12141	rs1057516178	Pathogenic	Blepharophimosis, ptosis, and epicanthus inversus	RCV000408820	MedGen;OMIM;Orphanet	C0220663;110100;ORPHA126	criteria provided, single submitter	tagSNP	rs1057516178
Clinvar_Rec_12142	rs753641620	Likely benign	Blepharophimosis, ptosis, and epicanthus inversus	RCV000408800	MedGen;OMIM;Orphanet	C0220663;110100;ORPHA126	criteria provided, single submitter	tagSNP	rs753641620
Clinvar_Rec_12143	rs111700291	Benign/Likely benign	Seckel syndrome;not specified	RCV000298637;RCV000145323	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112018640
Clinvar_Rec_12144	rs111700291	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000327853;RCV000589121;RCV000145301	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910272
Clinvar_Rec_12145	rs111700291	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000377847;RCV000590603;RCV000145300	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910271
Clinvar_Rec_12146	rs111700291	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000398572;RCV000588919;RCV000145294	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28910270
Clinvar_Rec_12147	rs111700291	Benign/Likely benign	Seckel syndrome;not provided;not specified	RCV000365738;RCV000588029;RCV000145288	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28897765
Clinvar_Rec_12148	rs111700291	Benign/Likely benign	Seckel syndrome;not specified	RCV000361827;RCV000145334	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28897764
Clinvar_Rec_12149	rs148955716	Conflicting interpretations of pathogenicity	Seckel syndrome;not provided;not specified	RCV000349871;RCV000866635;RCV000145295	MedGen;Orphanet;SNOMED CT	C0265202;ORPHA808;57917004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148955716
Clinvar_Rec_12150	rs886058065	Uncertain significance	Bruck Syndrome	RCV000314914	MedGen;Orphanet	C0432253;ORPHA2771	criteria provided, single submitter	tagSNP	rs886058065
Clinvar_Rec_12151	rs281865096	Pathogenic	Hermansky-Pudlak syndrome 3	RCV000020066	MedGen;OMIM	C3888001;614072	no assertion criteria provided	tagSNP	rs281865096
Clinvar_Rec_12152	rs386134124	Pathogenic	Deficiency of ferroxidase	RCV000034946	MedGen;OMIM;Orphanet;SNOMED CT	C0878682;604290;ORPHA48818;124224004	no assertion criteria provided	tagSNP	rs386134124
Clinvar_Rec_12153	rs386134123	Pathogenic	Deficiency of ferroxidase	RCV000034884	MedGen;OMIM;Orphanet;SNOMED CT	C0878682;604290;ORPHA48818;124224004	no assertion criteria provided	tagSNP	rs386134123
Clinvar_Rec_12154	rs886039755	risk factor	Charcot-Marie-Tooth disease, axonal, type 2T	RCV000254899	MedGen;OMIM;Orphanet;Orphanet;Orphanet	C4015635;617017;ORPHA495274;ORPHA497757;ORPHA497764	no assertion criteria provided	tagSNP	rs886039755
Clinvar_Rec_12155	rs73024716	Likely benign	Combined oxidative phosphorylation deficiency	RCV000264012	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	LD derived	rs10662631
Clinvar_Rec_12156	rs753617262	Uncertain significance	Jeune thoracic dystrophy	RCV000397466	MedGen;Orphanet;SNOMED CT	C0265275;ORPHA474;75049004	criteria provided, single submitter	tagSNP	rs753617262
Clinvar_Rec_12157	rs753617262	Uncertain significance	Jeune thoracic dystrophy	RCV000544841	MedGen;Orphanet;SNOMED CT	C0265275;ORPHA474;75049004	criteria provided, single submitter	tagSNP	rs753617262
Clinvar_Rec_12158	rs138081429	Likely pathogenic	Asphyxiating thoracic dystrophy 2	RCV000184040	MedGen;OMIM	C1970005;611263	no assertion criteria provided	tagSNP	rs138081429
Clinvar_Rec_12159	rs73144125	Uncertain significance	Congenital Myasthenic Syndrome, Recessive	RCV000334814	MedGen	CN239337	criteria provided, single submitter	LD derived	rs77521642
Clinvar_Rec_12160	rs770045897	Pathogenic	Endplate acetylcholinesterase deficiency;not provided	RCV000626064;RCV000375853	MedGen;OMIM;Orphanet	C1864233;603034;ORPHA98915;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs770045897
Clinvar_Rec_12161	rs151071780	Pathogenic	Biotinidase deficiency	RCV000021910	MedGen;OMIM;Orphanet;SNOMED CT	C0220754;253260;ORPHA79241;8808004	no assertion criteria provided	tagSNP	rs151071780
Clinvar_Rec_12162	rs886058266	Uncertain significance	Thyroid hormone resistance syndrome	RCV000332070	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs886058266
Clinvar_Rec_12163	rs886058273	Uncertain significance	Thyroid hormone resistance syndrome	RCV000291330	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs886058273
Clinvar_Rec_12164	rs559325556	Benign	Thyroid hormone resistance syndrome	RCV000395679	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12165	rs559325556	Uncertain significance	Thyroid hormone resistance syndrome	RCV000334925	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12166	rs559325556	Uncertain significance	Thyroid hormone resistance syndrome	RCV000401068	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12167	rs559325556	Uncertain significance	Thyroid hormone resistance syndrome	RCV000313774	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12168	rs559325556	Uncertain significance	Thyroid hormone resistance syndrome	RCV000348669	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12169	rs559325556	Uncertain significance	Thyroid hormone resistance syndrome	RCV000395673	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs559325556
Clinvar_Rec_12170	rs886058280	Uncertain significance	Thyroid hormone resistance syndrome	RCV000266416	MedGen	CN118820	criteria provided, single submitter	tagSNP	rs886058280
Clinvar_Rec_12171	rs397518481	Pathogenic	Microphthalmia, syndromic 12	RCV000074410	MedGen;OMIM	C3809803;615524	no assertion criteria provided	tagSNP	rs397518481
Clinvar_Rec_12172	rs869025222	Likely pathogenic	Microphthalmia, syndromic 12	RCV000207485	MedGen;OMIM	C3809803;615524	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025222
Clinvar_Rec_12173	rs767388144	Pathogenic	Congenital disorder of deglycosylation;not provided	RCV000496208;RCV001007961	MedGen;OMIM;Orphanet	C3808991;615273;ORPHA404454;MedGen	criteria provided, single submitter	tagSNP	rs767388144
Clinvar_Rec_12174	rs149783130	Uncertain significance	Sucrase-isomaltase deficiency	RCV000278994	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C1283620;222900;ORPHA35122;360854006;78373000	criteria provided, single submitter	tagSNP	rs149783130
Clinvar_Rec_12175	rs754214624	Likely pathogenic	Deficiency of butyrylcholine esterase	RCV000411348	MedGen;OMIM;Orphanet;SNOMED CT	C1283400;617936;ORPHA132;360589003	criteria provided, single submitter	tagSNP	rs754214624
Clinvar_Rec_12176	rs778311238	Pathogenic	Cardiac valvular defect, developmental	RCV000488900	MedGen;OMIM	C1859330;212093	no assertion criteria provided	tagSNP	rs778311238
Clinvar_Rec_12177	rs115095786	Uncertain significance	Spermatogenic Failure	RCV000358764	MedGen	C3553794	criteria provided, single submitter	tagSNP	rs115095786
Clinvar_Rec_12178	rs758141708	Uncertain significance	Spermatogenic Failure	RCV000261704	MedGen	C3553794	criteria provided, single submitter	tagSNP	rs758141708
Clinvar_Rec_12179	rs193920814	Uncertain significance	Malignant tumor of prostate	RCV000149296	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920814
Clinvar_Rec_12180	rs1560137030	Uncertain significance	Cowden syndrome	RCV000690023	MedGen;Orphanet;SNOMED CT	C0018553;ORPHA201;58037000	criteria provided, single submitter	tagSNP	rs1560137030
Clinvar_Rec_12181	rs867262025	Pathogenic	Brainstem glioma;Inborn genetic diseases;Lung adenocarcinoma;Neoplasm of the breast;Neoplasm of the large intestine;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms;not provided	RCV000441124;RCV000624735;RCV000424090;RCV000423869;RCV000419986;RCV000431306;RCV000429813;RCV000437047;RCV000440466;RCV000484330	Human Phenotype Ontology;MedGen;MedGen;MeSH;MedGen;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen	HP;C0677865;MeSH;C0950123;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MeSH;CN236667;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs867262025
Clinvar_Rec_12182	rs1057519928	Likely pathogenic	Brainstem glioma;Lung adenocarcinoma;Neoplasm of the breast;Neoplasm of the large intestine;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder;Uterine cervical neoplasms	RCV000442069;RCV000431720;RCV000431948;RCV000425307;RCV000421014;RCV000441979;RCV000442825;RCV000436009	Human Phenotype Ontology;MedGen;MeSH;MedGen;MeSH;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;OMIM;Orphanet;MedGen;MedGen;MedGen	HP;C0677865;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;Human Phenotype Ontology;D015179;C0009404;126837005;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680;MeSH;CN236667	no assertion criteria provided	tagSNP	rs1057519928
Clinvar_Rec_12183	rs587776802	Pathogenic	Hepatocellular carcinoma;Neoplasm of stomach	RCV000014641;RCV000014642	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	HP;C2239176;114550;ORPHA88673;187769009;25370001;Human Phenotype Ontology;D013274;C0038356;613659;126824007	no assertion criteria provided	tagSNP	rs587776802
Clinvar_Rec_12184	rs201586263	Uncertain significance	Ciliary dyskinesia, primary, 14;Primary ciliary dyskinesia	RCV000765714;RCV000205312	MedGen;OMIM;MedGen;Orphanet	C3151136;613807;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	tagSNP	rs201586263
Clinvar_Rec_12185	rs199503571	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000291362;RCV000858481	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199503571
Clinvar_Rec_12186	rs377319302	Uncertain significance	Primary ciliary dyskinesia	RCV000629450	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs377319302
Clinvar_Rec_12187	rs780264719	Uncertain significance	Primary ciliary dyskinesia	RCV000700435	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs780264719
Clinvar_Rec_12188	rs104893799	Pathogenic	Anophthalmia/microphthalmia-esophageal atresia syndrome	RCV000013662	MedGen;OMIM;Orphanet	C1859773;206900;ORPHA77298	no assertion criteria provided	tagSNP	rs104893799
Clinvar_Rec_12189	rs776641008	Pathogenic/Likely pathogenic	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided	RCV000591068;RCV000726783	MedGen;OMIM	CN028786;210200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776641008
Clinvar_Rec_12190	rs905321122	Pathogenic	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided	RCV000653488;RCV000599442	MedGen;OMIM	CN028786;210200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs905321122
Clinvar_Rec_12191	rs119103218	Pathogenic	3 Methylcrotonyl-CoA carboxylase 1 deficiency	RCV000002012	MedGen;OMIM	CN028786;210200	no assertion criteria provided	tagSNP	rs119103218
Clinvar_Rec_12192	rs750484977	Pathogenic	3 Methylcrotonyl-CoA carboxylase 1 deficiency;not provided	RCV000705149;RCV000255554	MedGen;OMIM	CN028786;210200;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs750484977
Clinvar_Rec_12193	rs548549593	Uncertain significance	Monoclonal B-Cell Lymphocytosis	RCV000208542	MedGen	C2698259	no assertion criteria provided	tagSNP	rs548549593
Clinvar_Rec_12194	rs1064794256	Pathogenic/Likely pathogenic	Leukoencephalopathy with vanishing white matter;not provided	RCV000763510;RCV000483052	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794256
Clinvar_Rec_12195	rs186599528	Uncertain significance	Congenital disorder of glycosylation	RCV000359062	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs186599528
Clinvar_Rec_12196	rs1553845417	Uncertain significance	Inborn genetic diseases	RCV000623982	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553845417
Clinvar_Rec_12197	rs149116671	Benign/Likely benign	Primary hypomagnesemia;not provided	RCV000346413;RCV000974602	MedGen;OMIM;Orphanet;SNOMED CT	C0268448;248250;ORPHA31043;80710001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149116671
Clinvar_Rec_12198	rs769335936	Uncertain significance	Optic Atrophy, Dominant	RCV000304297	MedGen	CN239213	criteria provided, single submitter	tagSNP	rs769335936
Clinvar_Rec_12199	rs104893753	Pathogenic	Dominant hereditary optic atrophy;not provided	RCV000005390;RCV000790742	MedGen;OMIM;Orphanet;SNOMED CT	C0338508;165500;ORPHA98673;2065009;MedGen	criteria provided, single submitter	tagSNP	rs104893753
Clinvar_Rec_12200	rs879255512	Pathogenic	Dominant hereditary optic atrophy	RCV000005392	MedGen;OMIM;Orphanet;SNOMED CT	C0338508;165500;ORPHA98673;2065009	no assertion criteria provided	tagSNP	rs879255512
Clinvar_Rec_12201	rs141856449	Conflicting interpretations of pathogenicity	Spinocerebellar ataxia, autosomal recessive 15;not provided	RCV000661906;RCV000961502	MedGen;OMIM;Orphanet	C3810326;615705;ORPHA404499;MedGen	criteria provided, conflicting interpretations	LD derived	rs145980033
Clinvar_Rec_12202	rs766043927	Uncertain significance	Diamond-Blackfan anemia	RCV000341669	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs766043927
Clinvar_Rec_12203	rs1559458806	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000773917	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs1559458806
Clinvar_Rec_12204	rs193922665	Likely pathogenic	Loeys-Dietz syndrome	RCV000030550	MedGen;Orphanet;SNOMED CT	C2697932;ORPHA60030;446263001	criteria provided, single submitter	tagSNP	rs193922665
Clinvar_Rec_12205	rs541286856	Likely benign	Loeys-Dietz syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000306620;RCV000351059;RCV000395943	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs17026336
Clinvar_Rec_12206	rs541286856	Likely benign	Loeys-Dietz syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000369664;RCV000312093;RCV000277414	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C2697932;ORPHA60030;446263001;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs17026341
Clinvar_Rec_12207	rs143486835	Conflicting interpretations of pathogenicity	Brugada syndrome;Cardiovascular phenotype;not provided	RCV000553182;RCV000619197;RCV000170925	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143486835
Clinvar_Rec_12208	rs72552294	Uncertain significance	Brugada syndrome;Brugada syndrome 2;Cardiovascular phenotype;not provided	RCV000703528;RCV000000825;RCV000620875;RCV000170922	MedGen;Orphanet;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;611777;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72552294
Clinvar_Rec_12209	rs1409253059	Uncertain significance	Cardiovascular phenotype	RCV000619221	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1409253059
Clinvar_Rec_12210	rs200045526	Likely benign	Brugada syndrome;Cardiovascular phenotype;not provided	RCV000638761;RCV000621137;RCV000839127	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200045526
Clinvar_Rec_12211	rs786204216	Uncertain significance	Brugada syndrome	RCV000168338	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs786204216
Clinvar_Rec_12212	rs72555370	Pathogenic	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis	RCV000000993;RCV000760159	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007	criteria provided, single submitter	tagSNP	rs72555370
Clinvar_Rec_12213	rs201267683	Uncertain significance	Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta type 7;not provided	RCV000311280;RCV001039094;RCV000421177	MedGen;OMIM	CN239451;MedGen;610682;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201267683
Clinvar_Rec_12214	rs1135127	Benign	Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta type 7;not specified	RCV000263971;RCV000612944;RCV000246595	MedGen;OMIM	CN239451;MedGen;610682;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1135127
Clinvar_Rec_12215	rs886058358	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000292146	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs886058358
Clinvar_Rec_12216	rs886058374	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000270305	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs886058374
Clinvar_Rec_12217	rs553269795	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not specified	RCV000167439;RCV000199499;RCV000758645;RCV000418566	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	criteria provided, conflicting interpretations	LD derived	rs531873434
Clinvar_Rec_12218	rs63750792	Pathogenic	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000160552;RCV000075881	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63750792
Clinvar_Rec_12219	rs63750656	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;Lynch syndrome II;not provided;not specified	RCV000132377;RCV000697498;RCV000768419;RCV000662773;RCV000767178;RCV000201970	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen;609310;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63750656
Clinvar_Rec_12220	rs63749994	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome II;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome;not provided;not specified	RCV000115487;RCV000410005;RCV000765729;RCV000765729;RCV000765729;RCV000590103;RCV000235172	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;609310;MedGen;609310;MedGen;158320;ORPHA587;403824007;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63749994
Clinvar_Rec_12221	rs749671520	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome;not provided	RCV000569326;RCV000816684;RCV000765728;RCV000765728;RCV000765728;RCV000487360	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;609310;MedGen;158320;ORPHA587;403824007;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs749671520
Clinvar_Rec_12222	rs730882127	Uncertain significance	Lynch syndrome	RCV000161932	MedGen;Orphanet	C1333990;ORPHA144	no assertion criteria provided	tagSNP	rs730882127
Clinvar_Rec_12223	rs1553637382	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630075	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553637382
Clinvar_Rec_12224	rs730881747	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001017246;RCV000160553	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881747
Clinvar_Rec_12225	rs730881747	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000166061;RCV000679264;RCV000444532	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881747
Clinvar_Rec_12226	rs864622485	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000544504	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs864622485
Clinvar_Rec_12227	rs864622485	Uncertain significance	Lynch syndrome	RCV000204763	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs864622485
Clinvar_Rec_12228	rs587778888	Pathogenic	Lynch syndrome	RCV000758567	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs587778888
Clinvar_Rec_12229	rs587778888	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV000688444;RCV000075118	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs587778888
Clinvar_Rec_12230	rs587778890	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV001010027	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs587778890
Clinvar_Rec_12231	rs63751701	Uncertain significance	Hereditary cancer-predisposing syndrome;Lynch syndrome I;not provided	RCV001010101;RCV000075134;RCV000202285	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;120435;MedGen	reviewed by expert panel	tagSNP	rs63751701
Clinvar_Rec_12232	rs63751701	Uncertain significance	Lynch syndrome I	RCV000075135	MedGen;OMIM	C2936783;120435	reviewed by expert panel	tagSNP	rs63751701
Clinvar_Rec_12233	rs1057523910	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV001010028;RCV000799631;RCV000425655	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057523910
Clinvar_Rec_12234	rs1057523910	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000772302	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1057523910
Clinvar_Rec_12235	rs1553637494	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000584525;RCV000534559	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553637494
Clinvar_Rec_12236	rs1553637494	Likely benign	Hereditary cancer-predisposing syndrome	RCV000582116	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553637494
Clinvar_Rec_12237	rs63751428	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	RCV000217644;RCV000694109;RCV000075379;RCV000254916	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs63751428
Clinvar_Rec_12238	rs1559506261	Conflicting interpretations of pathogenicity	Lynch syndrome;Lynch syndrome II;not provided	RCV000708911;RCV000987144;RCV000977985	MedGen;Orphanet;OMIM	C1333990;ORPHA144;MedGen;609310;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1559506261
Clinvar_Rec_12239	rs876659274	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000219452;RCV000630199	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs876659274
Clinvar_Rec_12240	rs63750908	Pathogenic	Lynch syndrome	RCV000075788	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750908
Clinvar_Rec_12241	rs1553651265	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571249	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553651265
Clinvar_Rec_12242	rs1064794826	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000572658;RCV000690155;RCV000483640	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794826
Clinvar_Rec_12243	rs876658821	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not provided	RCV000218055;RCV000538190;RCV000985777	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876658821
Clinvar_Rec_12244	rs267607829	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000164973;RCV000703886	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs267607829
Clinvar_Rec_12245	rs63749923	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV000699744;RCV000075235	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63749923
Clinvar_Rec_12246	rs63751472	Pathogenic	Lynch syndrome	RCV000075236	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751472
Clinvar_Rec_12247	rs63751705	Pathogenic	Lynch syndrome	RCV000075239	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751705
Clinvar_Rec_12248	rs63751705	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129764	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs63751705
Clinvar_Rec_12249	rs587778925	Pathogenic	Lynch syndrome	RCV000075241	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778925
Clinvar_Rec_12250	rs373322226	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000166529;RCV000473782;RCV000423106	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373322226
Clinvar_Rec_12251	rs1553653237	Pathogenic	Lynch syndrome	RCV000502659	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1553653237
Clinvar_Rec_12252	rs587778926	Pathogenic	Lynch syndrome	RCV000075243	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778926
Clinvar_Rec_12253	rs1553662800	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000545280	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553662800
Clinvar_Rec_12254	rs587778946	Pathogenic	Lynch syndrome	RCV000075367	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778946
Clinvar_Rec_12255	rs1355248187	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774859	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1355248187
Clinvar_Rec_12256	rs1057522427	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;not specified	RCV001013295;RCV000689689;RCV000432366	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522427
Clinvar_Rec_12257	rs1057522427	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567239;RCV000468063	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057522427
Clinvar_Rec_12258	rs41295284	Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;not provided;not specified	RCV000115467;RCV000075372;RCV000987185;RCV000524252;RCV000212544	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;609310;MedGen	reviewed by expert panel	tagSNP	rs41295284
Clinvar_Rec_12259	rs577217817	Likely benign	Hereditary nonpolyposis colon cancer	RCV000543117	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs577217817
Clinvar_Rec_12260	rs577217817	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000219171;RCV000797456	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs577217817
Clinvar_Rec_12261	rs587778962	Pathogenic	Lynch syndrome	RCV000075429	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs587778962
Clinvar_Rec_12262	rs863224636	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001013764;RCV000196328	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224636
Clinvar_Rec_12263	rs863224636	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216293	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs863224636
Clinvar_Rec_12264	rs63750899	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000630123	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs63750899
Clinvar_Rec_12265	rs63750899	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome II;Turcot syndrome	RCV000162472;RCV001040524;RCV000075432;RCV000018629;RCV000018630	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;609310;MedGen;276300;ORPHA252202;61665008	reviewed by expert panel	tagSNP	rs63750899
Clinvar_Rec_12266	rs63750610	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000573864	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs63750610
Clinvar_Rec_12267	rs63750610	Likely pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome I;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome	RCV000221413;RCV000812087;RCV000075433;RCV000477957;RCV000477957;RCV000477957	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;120435;MedGen;609310;MedGen;158320;ORPHA587;403824007;MedGen;276300;ORPHA252202;61665008	reviewed by expert panel	tagSNP	rs63750610
Clinvar_Rec_12268	rs1280930048	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV001013801;RCV000688390	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1280930048
Clinvar_Rec_12269	rs1553663981	Pathogenic	Hereditary nonpolyposis colon cancer	RCV000629683	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1553663981
Clinvar_Rec_12270	rs63751202	Likely pathogenic	Lynch syndrome I	RCV000075437	MedGen;OMIM	C2936783;120435	reviewed by expert panel	tagSNP	rs63751202
Clinvar_Rec_12271	rs63751202	Likely pathogenic	Hereditary nonpolyposis colon cancer	RCV000200648	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs63751202
Clinvar_Rec_12272	rs1800146	Benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome I;Lynch syndrome II;not provided;not specified	RCV000126778;RCV000030219;RCV000144610;RCV000610651;RCV000524259;RCV000153507	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;120435;MedGen;609310;MedGen	reviewed by expert panel	tagSNP	rs1800146
Clinvar_Rec_12273	rs63750726	Pathogenic	Lynch syndrome;not provided	RCV000075439;RCV000215855	MedGen;Orphanet	C1333990;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs63750726
Clinvar_Rec_12274	rs55907433	Likely benign	Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;not provided;not specified	RCV000148615;RCV000130675;RCV000075440;RCV000659875;RCV000034543;RCV000121364	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;Orphanet;SNOMED CT;Orphanet;OMIM	HP;C0476089;608089;254878006;MedGen;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;609310;MedGen	reviewed by expert panel	tagSNP	rs55907433
Clinvar_Rec_12275	rs63750131	Pathogenic	Lynch syndrome	RCV000075445	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750131
Clinvar_Rec_12276	rs63751200	Pathogenic	Lynch syndrome	RCV000075449	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63751200
Clinvar_Rec_12277	rs63751310	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided	RCV000128869;RCV000524261;RCV000075444;RCV000202252	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs63751310
Clinvar_Rec_12278	rs63749900	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000568527;RCV000656865;RCV000121365	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63749900
Clinvar_Rec_12279	rs63749900	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV001064800;RCV000075447	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63749900
Clinvar_Rec_12280	rs63749900	Pathogenic	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV000572238;RCV000075448	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	reviewed by expert panel	tagSNP	rs63749900
Clinvar_Rec_12281	rs587778964	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000774205;RCV001036962	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs587778964
Clinvar_Rec_12282	rs587778964	Likely pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not specified	RCV001013906;RCV000524263;RCV000075450;RCV000780422	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs587778964
Clinvar_Rec_12283	rs267607873	Pathogenic	Lynch syndrome	RCV000075451	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267607873
Clinvar_Rec_12284	rs1559591605	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000696161	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1559591605
Clinvar_Rec_12285	rs267607877	Pathogenic	Lynch syndrome	RCV000075454	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267607877
Clinvar_Rec_12286	rs63751682	Uncertain significance	Lynch syndrome I	RCV000075452	MedGen;OMIM	C2936783;120435	reviewed by expert panel	tagSNP	rs63751682
Clinvar_Rec_12287	rs63751682	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV001013918;RCV000218482	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs63751682
Clinvar_Rec_12288	rs63751022	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I	RCV000165669;RCV001044497;RCV000075553;RCV000144606	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435	reviewed by expert panel	tagSNP	rs63751022
Clinvar_Rec_12289	rs397514470	Pathogenic	Leukonychia totalis	RCV000023163	MedGen;OMIM	C0544855;151600	no assertion criteria provided	tagSNP	rs397514470
Clinvar_Rec_12290	rs77091454	Likely benign	Heterotaxia	RCV000296559	Human Phenotype Ontology;MedGen;Orphanet	HP;C3178805;ORPHA450	criteria provided, single submitter	tagSNP	rs77091454
Clinvar_Rec_12291	rs77091454	Likely benign	Heterotaxia	RCV000295047	Human Phenotype Ontology;MedGen;Orphanet	HP;C3178805;ORPHA450	criteria provided, single submitter	LD derived	rs151147030
Clinvar_Rec_12292	rs114517792	Uncertain significance	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000389461;RCV000293772;RCV000374381;RCV000260969;RCV000316312;RCV000348736;RCV000384667	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, single submitter	tagSNP	rs114517792
Clinvar_Rec_12293	rs397763929	Likely benign	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000263706;RCV000355913;RCV000361546;RCV000304768;RCV000264753;RCV000322188;RCV000316608	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, single submitter	tagSNP	rs397763929
Clinvar_Rec_12294	rs199473640	Uncertain significance	Arrhythmia;Brugada syndrome;Congenital long QT syndrome;Long QT syndrome 3	RCV000771791;RCV000468309;RCV000058827;RCV000515713	EFO;Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM	EFO_0004269;HP;C0855329;248650006;MedGen;ORPHA130;418818005;MedGen;ORPHA768;442917000;MedGen;603830	criteria provided, multiple submitters, no conflicts	tagSNP	rs199473640
Clinvar_Rec_12295	rs397517956	Uncertain significance	Brugada syndrome;Cardiovascular phenotype;not provided;not specified	RCV000231684;RCV000241908;RCV000713148;RCV000041633	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517956
Clinvar_Rec_12296	rs199473636	not provided	Brugada syndrome	RCV000058793	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	no assertion provided	tagSNP	rs199473636
Clinvar_Rec_12297	rs768246863	Uncertain significance	Brugada syndrome;not provided	RCV000541591;RCV000587038	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs768246863
Clinvar_Rec_12298	rs1226701514	Uncertain significance	Arrhythmia	RCV000773835	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006	criteria provided, single submitter	tagSNP	rs1226701514
Clinvar_Rec_12299	rs746291609	Uncertain significance	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Primary dilated cardiomyopathy;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000375017;RCV000385583;RCV000274848;RCV000333482;RCV000208284;RCV000278247;RCV000318130;RCV000276067	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;EFO;HP;C0007193;ORPHA217604;195021004;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, multiple submitters, no conflicts	tagSNP	rs746291609
Clinvar_Rec_12300	rs199473204	not provided	Congenital long QT syndrome	RCV000058585	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473204
Clinvar_Rec_12301	rs756159737	Conflicting interpretations of pathogenicity	Brugada syndrome;Prolonged QT interval;Sudden cardiac death;not provided	RCV000532744;RCV000853446;RCV000853446;RCV000482288	MedGen;Orphanet;SNOMED CT;MedGen;Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	C1142166;ORPHA130;418818005;Human Phenotype Ontology;C0151878;EFO;HP;D016757;C0085298;95281009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs756159737
Clinvar_Rec_12302	rs763396298	Uncertain significance	Brugada syndrome;not provided	RCV001070753;RCV000183006	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs763396298
Clinvar_Rec_12303	rs794728914	Pathogenic	Brugada syndrome;not provided	RCV000201886;RCV000183155	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728914
Clinvar_Rec_12304	rs45475899	Conflicting interpretations of pathogenicity	Brugada syndrome;Brugada syndrome 1;Long QT syndrome;Long QT syndrome 3;not provided	RCV000239085;RCV000987215;RCV000148860;RCV000239085;RCV000058503	MedGen;Orphanet;SNOMED CT;OMIM;MedGen;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;601144;MeSH;C0023976;9651007;MedGen;603830;MedGen	criteria provided, conflicting interpretations	tagSNP	rs45475899
Clinvar_Rec_12305	rs199473580	not provided	Congenital long QT syndrome	RCV000058476	MedGen;Orphanet;SNOMED CT	C1141890;ORPHA768;442917000	no assertion provided	tagSNP	rs199473580
Clinvar_Rec_12306	rs761505485	Uncertain significance	Brugada syndrome;Dilated Cardiomyopathy, Dominant;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome	RCV000314087;RCV000309929;RCV000366972;RCV000403411;RCV000403579;RCV000344834;RCV000287542	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen;C0023976;9651007;MedGen;ORPHA228140;233915000;MedGen;ORPHA871;MedGen;ORPHA101016;20852007;Human Phenotype Ontology;C0037052;ORPHA166282;36083008	criteria provided, single submitter	tagSNP	rs761505485
Clinvar_Rec_12307	rs199473101	Pathogenic/Likely pathogenic	Brugada syndrome;Cardiovascular phenotype;not provided	RCV000058396;RCV000617435;RCV000182960	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199473101
Clinvar_Rec_12308	rs199473100	Conflicting interpretations of pathogenicity	Brugada syndrome;Brugada syndrome 1;not provided;not specified	RCV000638664;RCV000991042;RCV000058395;RCV001000677	MedGen;Orphanet;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;601144;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199473100
Clinvar_Rec_12309	rs199473099	Uncertain significance	Congenital long QT syndrome;Long QT syndrome	RCV000058393;RCV000678842	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	C1141890;ORPHA768;442917000;MeSH;C0023976;9651007	no assertion criteria provided	tagSNP	rs199473099
Clinvar_Rec_12310	rs28937318	Pathogenic	Brugada syndrome;Brugada syndrome 1	RCV000058390;RCV000009988	MedGen;Orphanet;SNOMED CT;OMIM	C1142166;ORPHA130;418818005;MedGen;601144	criteria provided, multiple submitters, no conflicts	tagSNP	rs28937318
Clinvar_Rec_12311	rs28937318	not provided	Brugada syndrome	RCV000058391	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	no assertion provided	tagSNP	rs28937318
Clinvar_Rec_12312	rs199473097	Pathogenic/Likely pathogenic	Atrial fibrillation, familial, 10;Brugada syndrome;Brugada syndrome 1;Congenital long QT syndrome;Dilated cardiomyopathy 1E;Long QT syndrome 3;Paroxysmal familial ventricular fibrillation 1;SUDDEN INFANT DEATH SYNDROME;Sick sinus syndrome 1, autosomal recessive;not provided	RCV000763108;RCV000466350;RCV000763108;RCV000058389;RCV000763108;RCV000763108;RCV000763108;RCV000763108;RCV000763108;RCV000182957	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;MedGen;OMIM;SNOMED CT;OMIM	C3151464;614022;MedGen;ORPHA130;418818005;MedGen;601144;MedGen;ORPHA768;442917000;MedGen;601154;MedGen;603830;MedGen;603829;EFO;C0038644;272120;51178009;MedGen;608567;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199473097
Clinvar_Rec_12313	rs370377886	Likely benign	Arrhythmia;not provided	RCV000773862;RCV000874390	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370377886
Clinvar_Rec_12314	rs1559370502	Likely pathogenic	Brugada syndrome	RCV000686943	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs1559370502
Clinvar_Rec_12315	rs1553605677	Uncertain significance	Cardiovascular phenotype	RCV000621010	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1553605677
Clinvar_Rec_12316	rs371834340	Uncertain significance	Brugada syndrome	RCV000638675	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs371834340
Clinvar_Rec_12317	rs139638446	Conflicting interpretations of pathogenicity	Brugada syndrome 1;not provided;not specified	RCV000987251;RCV000514921;RCV000603074	MedGen;OMIM	C4551804;601144;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139638446
Clinvar_Rec_12318	rs1559419984	Uncertain significance	Brugada syndrome	RCV000685375	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs1559419984
Clinvar_Rec_12319	rs1167279918	Uncertain significance	Brugada syndrome	RCV000691060	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs1167279918
Clinvar_Rec_12320	rs995722247	Likely benign	Brugada syndrome	RCV000536828	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs995722247
Clinvar_Rec_12321	rs777634572	Likely benign	Brugada syndrome;not provided	RCV000638786;RCV000998045	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs777634572
Clinvar_Rec_12322	rs199535863	Uncertain significance	Brugada syndrome	RCV000560497	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs199535863
Clinvar_Rec_12323	rs199535863	Uncertain significance	Brugada syndrome;not provided	RCV000638743;RCV000998046	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199535863
Clinvar_Rec_12324	rs763084100	Uncertain significance	Episodic pain syndrome, familial, 2	RCV000490406	MedGen;OMIM	C3809893;615551	criteria provided, single submitter	tagSNP	rs763084100
Clinvar_Rec_12325	rs773726638	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV000651863;RCV000651863	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs773726638
Clinvar_Rec_12326	rs774589923	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV000526881;RCV000526881	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs774589923
Clinvar_Rec_12327	rs1553630322	Uncertain significance	Charcot-Marie-Tooth disease;Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV001027471;RCV000531338;RCV000531338	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs1553630322
Clinvar_Rec_12328	rs533830451	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV000651876;RCV000651876	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs533830451
Clinvar_Rec_12329	rs1559518186	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV000700274;RCV000700274	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs1559518186
Clinvar_Rec_12330	rs374524879	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII;not provided	RCV000546753;RCV000546753;RCV000488000	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374524879
Clinvar_Rec_12331	rs1174559334	Uncertain significance	Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII	RCV000651864;RCV000651864	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809899;615552;ORPHA391392;MedGen;615548;ORPHA391397	criteria provided, single submitter	tagSNP	rs1174559334
Clinvar_Rec_12332	rs1559708295	Pathogenic	SPERMATOGENIC FAILURE 37	RCV000770964	MedGen;OMIM	CN258386;618429	no assertion criteria provided	tagSNP	rs1559708295
Clinvar_Rec_12333	rs141567816	Likely benign	Anemia, sideroblastic, 1;Refractory anemia with ringed sideroblasts (clinical)	RCV000342953;RCV000376052	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C4551511;300751;ORPHA75563;Human Phenotype Ontology;C1264195;ORPHA75564;109998009	criteria provided, single submitter	tagSNP	rs141567816
Clinvar_Rec_12334	rs1553630304	Pathogenic	Mental retardation, autosomal dominant 19	RCV000500221	MedGen;OMIM;Orphanet	C3554449;615075;ORPHA404473	criteria provided, single submitter	tagSNP	rs1553630304
Clinvar_Rec_12335	rs376393123	Pathogenic	Mental retardation, autosomal dominant 19	RCV000032860	MedGen;OMIM;Orphanet	C3554449;615075;ORPHA404473	no assertion criteria provided	tagSNP	rs376393123
Clinvar_Rec_12336	rs1553631783	Pathogenic	Inborn genetic diseases	RCV000623816	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1553631783
Clinvar_Rec_12337	rs1559474140	Uncertain significance	Mental retardation, autosomal dominant 19	RCV000679959	MedGen;OMIM;Orphanet	C3554449;615075;ORPHA404473	criteria provided, single submitter	tagSNP	rs1559474140
Clinvar_Rec_12338	rs1553680357	Likely benign	Nemaline myopathy 8	RCV000534042	MedGen;OMIM	C3809209;615348	criteria provided, single submitter	tagSNP	rs1553680357
Clinvar_Rec_12339	rs199513801	Uncertain significance	Nemaline myopathy 8	RCV000687288	MedGen;OMIM	C3809209;615348	criteria provided, single submitter	tagSNP	rs199513801
Clinvar_Rec_12340	rs56747630	Likely benign	Triglyceride storage disease with ichthyosis	RCV000317774	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	LD derived	rs34226283
Clinvar_Rec_12341	rs56747630	Likely benign	Triglyceride storage disease with ichthyosis	RCV000356909	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	LD derived	rs34048061
Clinvar_Rec_12342	rs56747630	Likely benign	Triglyceride storage disease with ichthyosis	RCV000331278	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	LD derived	rs34011416
Clinvar_Rec_12343	rs56747630	Likely benign	Triglyceride storage disease with ichthyosis	RCV000324938	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	LD derived	rs10433606
Clinvar_Rec_12344	rs56747630	Likely benign	Triglyceride storage disease with ichthyosis	RCV000313988	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005	criteria provided, single submitter	LD derived	rs758729
Clinvar_Rec_12345	rs144420157	Conflicting interpretations of pathogenicity	Triglyceride storage disease with ichthyosis;not provided	RCV000338649;RCV000907603	MedGen;OMIM;Orphanet;SNOMED CT	C0268238;275630;ORPHA165;19604005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144420157
Clinvar_Rec_12346	rs562961153	Uncertain significance	Hyperglycinuria	RCV000359315	Human Phenotype Ontology;MedGen;OMIM	HP;C0543541;138500	criteria provided, single submitter	tagSNP	rs562961153
Clinvar_Rec_12347	rs774194927	Uncertain significance	Hyperglycinuria	RCV000299229	Human Phenotype Ontology;MedGen;OMIM	HP;C0543541;138500	criteria provided, single submitter	tagSNP	rs774194927
Clinvar_Rec_12348	rs760366170	Uncertain significance	Hyperglycinuria	RCV000383051	Human Phenotype Ontology;MedGen;OMIM	HP;C0543541;138500	criteria provided, single submitter	tagSNP	rs760366170
Clinvar_Rec_12349	rs73830668	Conflicting interpretations of pathogenicity	Congenital cataract;not provided	RCV000269683;RCV000870643	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0009691;79410001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs73830668
Clinvar_Rec_12350	rs540726158	Uncertain significance	Gray platelet syndrome	RCV000362315	MedGen;OMIM;Orphanet;SNOMED CT	C0272302;139090;ORPHA721;51720005	criteria provided, single submitter	LD derived	rs555487179
Clinvar_Rec_12351	rs387907115	Pathogenic	Gray platelet syndrome	RCV000024116	MedGen;OMIM;Orphanet;SNOMED CT	C0272302;139090;ORPHA721;51720005	no assertion criteria provided	tagSNP	rs387907115
Clinvar_Rec_12352	rs145377213	Benign	Luscan-lumish syndrome	RCV000531325	MedGen;OMIM	C4085873;616831	criteria provided, single submitter	tagSNP	rs145377213
Clinvar_Rec_12353	rs1291041398	Uncertain significance	Inborn genetic diseases	RCV000623718	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1291041398
Clinvar_Rec_12354	rs565230778	Uncertain significance	Gray platelet syndrome	RCV000272035	MedGen;OMIM;Orphanet;SNOMED CT	C0272302;139090;ORPHA721;51720005	criteria provided, single submitter	LD derived	rs568006584
Clinvar_Rec_12355	rs527987695	Likely pathogenic	Brain atrophy;Global developmental delay	RCV000853205;RCV000853205	Human Phenotype Ontology;MedGen;MedGen	HP;C4551584;Human Phenotype Ontology;C0557874	no assertion criteria provided	LD derived	rs138076291
Clinvar_Rec_12356	rs2279077	Benign	Aicardi Goutieres syndrome;not provided;not specified	RCV000405847;RCV000713867;RCV000082324	MedGen;Orphanet;SNOMED CT	C0393591;ORPHA51;230312006;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11797
Clinvar_Rec_12357	rs757688782	Pathogenic	Transient bullous dermolysis of the newborn;not provided	RCV000477818;RCV000413788	MedGen;OMIM;Orphanet	C1851573;131705;ORPHA79411;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs757688782
Clinvar_Rec_12358	rs886058641	Uncertain significance	Dystrophic epidermolysis bullosa	RCV000306900	MedGen;SNOMED CT	C0079294;254185007	criteria provided, single submitter	tagSNP	rs886058641
Clinvar_Rec_12359	rs201916805	Conflicting interpretations of pathogenicity	Dystrophic epidermolysis bullosa;not provided	RCV000344843;RCV000941014	MedGen;SNOMED CT	C0079294;254185007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201916805
Clinvar_Rec_12360	rs113862826	Conflicting interpretations of pathogenicity	Dystrophic epidermolysis bullosa;not provided	RCV000352525;RCV000969845	MedGen;SNOMED CT	C0079294;254185007;MedGen	criteria provided, conflicting interpretations	LD derived	rs139461888
Clinvar_Rec_12361	rs574163783	Conflicting interpretations of pathogenicity	Carnitine acylcarnitine translocase deficiency;not specified	RCV000390894;RCV000417763	MedGen;OMIM;Orphanet;SNOMED CT	C0342791;212138;ORPHA159;238003000;MedGen	criteria provided, conflicting interpretations	LD derived	rs542582794
Clinvar_Rec_12362	rs74387007	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000700025;RCV000700025	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	LD derived	rs149653966
Clinvar_Rec_12363	rs28934589	Pathogenic	Carnitine acylcarnitine translocase deficiency;not provided	RCV000012921;RCV000153966	MedGen;OMIM;Orphanet;SNOMED CT	C0342791;212138;ORPHA159;238003000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934589
Clinvar_Rec_12364	rs147069603	Likely pathogenic	Cortical visual impairment;Heterotopia;Hypoplasia of the corpus callosum;Impaired use of nonverbal behaviors;Insomnia;Microcephaly;Profound global developmental delay;Seizures;Short foot;Small hand;Strabismus	RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295;RCV000735295	Human Phenotype Ontology;MedGen;Orphanet;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C4048268;ORPHA447788;Human Phenotype Ontology;C0008519;Human Phenotype Ontology;C0344482;Human Phenotype Ontology;C4021798;Human Phenotype Ontology;C0917801;Human Phenotype Ontology;C4551563;Human Phenotype Ontology;C3553450;Human Phenotype Ontology;C0036572;Human Phenotype Ontology;C1848673;Human Phenotype Ontology;C0575802;Human Phenotype Ontology;C0038379	criteria provided, single submitter	LD derived	rs185476065
Clinvar_Rec_12365	rs141983717	Uncertain significance	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;not provided	RCV000461879;RCV000498066	MedGen;OMIM;Orphanet	C4014239;615760;ORPHA404437;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141983717
Clinvar_Rec_12366	rs143405268	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000699402;RCV000699402	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	tagSNP	rs143405268
Clinvar_Rec_12367	rs1057519954	Likely pathogenic	Adenocarcinoma of stomach;Non-Hodgkin lymphoma;Squamous cell carcinoma of the head and neck	RCV000427520;RCV000438221;RCV000420783	MedGen;MedGen;OMIM;SNOMED CT;MedGen;OMIM;Orphanet	C0278701;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;C1168401;275355;ORPHA67037	no assertion criteria provided	tagSNP	rs1057519954
Clinvar_Rec_12368	rs1057519954	Likely pathogenic	Adenocarcinoma of stomach;Non-Hodgkin lymphoma;Squamous cell carcinoma of the head and neck	RCV000427521;RCV000419217;RCV000436909	MedGen;MedGen;OMIM;SNOMED CT;MedGen;OMIM;Orphanet	C0278701;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;C1168401;275355;ORPHA67037	no assertion criteria provided	tagSNP	rs1057519954
Clinvar_Rec_12369	rs1057519954	Likely pathogenic	Adenocarcinoma of stomach;Non-Hodgkin lymphoma;Squamous cell carcinoma of the head and neck	RCV000418559;RCV000430340;RCV000440615	MedGen;MedGen;OMIM;SNOMED CT;MedGen;OMIM;Orphanet	C0278701;Human Phenotype Ontology;C4721532;605027;1929004;MeSH;C1168401;275355;ORPHA67037	no assertion criteria provided	tagSNP	rs1057519954
Clinvar_Rec_12370	rs1057519951	Likely pathogenic	Adenocarcinoma of stomach;Lung adenocarcinoma;Neoplasm of the breast;Squamous cell carcinoma of the head and neck	RCV000436482;RCV000425897;RCV000425677;RCV000443212	MedGen;MeSH;MedGen;MeSH;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0278701;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MeSH;C1168401;275355;ORPHA67037	no assertion criteria provided	tagSNP	rs1057519951
Clinvar_Rec_12371	rs1057519951	Likely pathogenic	Adenocarcinoma of stomach;Lung adenocarcinoma;Neoplasm of the breast;Squamous cell carcinoma of the head and neck	RCV000428054;RCV000418248;RCV000435238;RCV000435482	MedGen;MeSH;MedGen;MeSH;MedGen;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet	C0278701;Human Phenotype Ontology;C538231;C0152013;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MeSH;C1168401;275355;ORPHA67037	no assertion criteria provided	tagSNP	rs1057519951
Clinvar_Rec_12372	rs370007860	Uncertain significance	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome	RCV000700025;RCV000700025	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670	criteria provided, single submitter	LD derived	rs149653966
Clinvar_Rec_12373	rs370007860	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided;not specified	RCV000704955;RCV000704955;RCV000725241;RCV000390758	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs199894361
Clinvar_Rec_12374	rs144241950	Uncertain significance	Non-ketotic hyperglycinemia	RCV000373179	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, multiple submitters, no conflicts	tagSNP	rs144241950
Clinvar_Rec_12375	rs779483959	Uncertain significance	Non-ketotic hyperglycinemia	RCV000672693	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs779483959
Clinvar_Rec_12376	rs1553638927	Uncertain significance	Non-ketotic hyperglycinemia	RCV000672225	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs1553638927
Clinvar_Rec_12377	rs148238809	Uncertain significance	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	RCV000688576;RCV000688576	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3151184;613818;ORPHA280333;MedGen;616538;ORPHA370997	criteria provided, single submitter	tagSNP	rs148238809
Clinvar_Rec_12378	rs1559696652	Uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	RCV000695460;RCV000695460;RCV000695460	MedGen;OMIM;OMIM;OMIM;Orphanet	C3809216;615350;MedGen;615351;MedGen;615352;ORPHA363623	criteria provided, single submitter	tagSNP	rs1559696652
Clinvar_Rec_12379	rs763971677	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	RCV000692931;RCV000692931;RCV000692931	MedGen;OMIM;OMIM;OMIM;Orphanet	C3809216;615350;MedGen;615351;MedGen;615352;ORPHA363623	criteria provided, single submitter	tagSNP	rs763971677
Clinvar_Rec_12380	rs776779111	Likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	RCV000651280;RCV000651280;RCV000651280	MedGen;OMIM;OMIM;OMIM;Orphanet	C3809216;615350;MedGen;615351;MedGen;615352;ORPHA363623	criteria provided, single submitter	tagSNP	rs776779111
Clinvar_Rec_12381	rs114828382	Likely benign	Congenital Stationary Night Blindness, Dominant	RCV000305187	MedGen	CN239263	criteria provided, single submitter	tagSNP	rs114828382
Clinvar_Rec_12382	rs137853226	Pathogenic	Adrenocortical tumor, somatic;Granulosa cell tumor of the ovary;Thecoma, somatic	RCV000017250;RCV000017251;RCV000017252	MedGen	C4016392;MedGen	no assertion criteria provided	tagSNP	rs137853226
Clinvar_Rec_12383	rs137853226	Pathogenic	Pituitary dependent hypercortisolism	RCV000017256	MedGen;OMIM;Orphanet;SNOMED CT	C0221406;219090;ORPHA96253;190502001	no assertion criteria provided	tagSNP	rs137853226
Clinvar_Rec_12384	rs587777043	Pathogenic	Ciliary dyskinesia, primary, 22	RCV000056265	MedGen;OMIM	C3809543;615444	no assertion criteria provided	tagSNP	rs587777043
Clinvar_Rec_12385	rs587776948	Pathogenic	Early infantile epileptic encephalopathy	RCV000033237	MedGen;Orphanet	C4552072;ORPHA1934	no assertion criteria provided	tagSNP	rs587776948
Clinvar_Rec_12386	rs1013511770	Uncertain significance	Early infantile epileptic encephalopathy	RCV000555391	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1013511770
Clinvar_Rec_12387	rs914853499	Likely benign	Early infantile epileptic encephalopathy	RCV000534997	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs914853499
Clinvar_Rec_12388	rs552824990	Uncertain significance	Early infantile epileptic encephalopathy	RCV000473332	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, multiple submitters, no conflicts	tagSNP	rs552824990
Clinvar_Rec_12389	rs374290346	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000541303;RCV000541303	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs374290346
Clinvar_Rec_12390	rs1315748049	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000655811;RCV000655811	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs1315748049
Clinvar_Rec_12391	rs184765148	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000691624;RCV000691624	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs184765148
Clinvar_Rec_12392	rs201989206	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000699896;RCV000699896	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs201989206
Clinvar_Rec_12393	rs376327672	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000706883;RCV000706883	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs376327672
Clinvar_Rec_12394	rs61734640	Benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000550036;RCV000550036	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs13060192
Clinvar_Rec_12395	rs61734640	Benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000528196;RCV000528196	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs35982798
Clinvar_Rec_12396	rs61734640	Benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000560233;RCV000560233	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs419050
Clinvar_Rec_12397	rs61734640	Benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000552420;RCV000552420	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs419752
Clinvar_Rec_12398	rs61734640	Likely benign	Tumor susceptibility linked to germline BAP1 mutations	RCV000361941	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	LD derived	rs123598
Clinvar_Rec_12399	rs536663755	Likely benign	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000655846;RCV000655846	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	tagSNP	rs536663755
Clinvar_Rec_12400	rs752063900	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000582273;RCV000841655	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752063900
Clinvar_Rec_12401	rs1553644790	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582861	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553644790
Clinvar_Rec_12402	rs1553645130	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000649778	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	tagSNP	rs1553645130
Clinvar_Rec_12403	rs764891422	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584071	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs764891422
Clinvar_Rec_12404	rs764891422	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582610	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs764891422
Clinvar_Rec_12405	rs113802540	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000581648	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs113802540
Clinvar_Rec_12406	rs770331194	Uncertain significance	Cardiomyopathy	RCV000770188	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs770331194
Clinvar_Rec_12407	rs139449752	Uncertain significance	Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18	RCV000655826;RCV000655826	MedGen;OMIM;OMIM	C4539798;617577;MedGen;617576	criteria provided, single submitter	LD derived	rs370257194
Clinvar_Rec_12408	rs538460756	Uncertain significance	Congenital disorder of glycosylation	RCV000296867	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs575340631
Clinvar_Rec_12409	rs886058716	Uncertain significance	Congenital disorder of glycosylation	RCV000337783	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886058716
Clinvar_Rec_12410	rs748691130	Uncertain significance	Robinow syndrome, autosomal dominant 1	RCV000299951	MedGen;OMIM;Orphanet	C4551475;180700;ORPHA97360	criteria provided, single submitter	tagSNP	rs748691130
Clinvar_Rec_12411	rs387906663	Pathogenic	Robinow syndrome, autosomal dominant 1	RCV000022695	MedGen;OMIM;Orphanet	C4551475;180700;ORPHA97360	no assertion criteria provided	tagSNP	rs387906663
Clinvar_Rec_12412	rs114882667	Benign/Likely benign	FLNB-Related Spectrum Disorders;not provided;not specified	RCV000301123;RCV000974989;RCV000252352	MedGen	CN239400;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114882667
Clinvar_Rec_12413	rs201723447	Conflicting interpretations of pathogenicity	FLNB-Related Spectrum Disorders;not provided;not specified	RCV000335137;RCV000896703;RCV000177837	MedGen	CN239400;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201723447
Clinvar_Rec_12414	rs201723447	Conflicting interpretations of pathogenicity	FLNB-Related Spectrum Disorders;not provided;not specified	RCV000387534;RCV000905799;RCV000176541	MedGen	CN239400;MedGen	criteria provided, conflicting interpretations	LD derived	rs377095569
Clinvar_Rec_12415	rs201723447	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000273609	MedGen	CN239400	criteria provided, single submitter	LD derived	rs577715021
Clinvar_Rec_12416	rs372372509	Conflicting interpretations of pathogenicity	FLNB-Related Spectrum Disorders;not provided	RCV000399022;RCV000924030	MedGen	CN239400;MedGen	criteria provided, conflicting interpretations	tagSNP	rs372372509
Clinvar_Rec_12417	rs372372509	Conflicting interpretations of pathogenicity	FLNB-Related Spectrum Disorders;not provided	RCV000350016;RCV000178549	MedGen	CN239400;MedGen	criteria provided, conflicting interpretations	LD derived	rs563382903
Clinvar_Rec_12418	rs767210448	Uncertain significance	FLNB-Related Spectrum Disorders	RCV000312223	MedGen	CN239400	criteria provided, single submitter	tagSNP	rs767210448
Clinvar_Rec_12419	rs17069880	Likely benign	Progressive myoclonic epilepsy	RCV000327988	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs17069880
Clinvar_Rec_12420	rs148724634	Uncertain significance	Progressive myoclonic epilepsy	RCV000314524	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs148724634
Clinvar_Rec_12421	rs387906989	Pathogenic	Epilepsy, progressive myoclonic 5;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	RCV000023710;RCV000679893	MedGen;Orphanet;OMIM;Orphanet	CN226157;ORPHA402082;MedGen;607459;ORPHA70595	criteria provided, single submitter	tagSNP	rs387906989
Clinvar_Rec_12422	rs1337013281	Likely benign	Epilepsy, progressive myoclonic 5	RCV000528515	MedGen;Orphanet	CN226157;ORPHA402082	criteria provided, single submitter	tagSNP	rs1337013281
Clinvar_Rec_12423	rs139192915	Benign	Nemaline myopathy 10	RCV000549842	MedGen;OMIM	C4015360;616165	criteria provided, single submitter	tagSNP	rs139192915
Clinvar_Rec_12424	rs1057519325	Pathogenic	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Waardenburg syndrome type 2A	RCV000416286;RCV000416300	MedGen;OMIM;OMIM	C4310625;617306;MedGen;193510	no assertion criteria provided	tagSNP	rs1057519325
Clinvar_Rec_12425	rs1553705282	Pathogenic	Waardenburg syndrome type 2A	RCV000015344	MedGen;OMIM	C1860339;193510	no assertion criteria provided	tagSNP	rs1553705282
Clinvar_Rec_12426	rs190540926	Likely benign	Tietz syndrome;Waardenburg syndrome	RCV000270800;RCV000362992	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0391816;103500;ORPHA42665;MedGen;ORPHA3440;47434006	criteria provided, single submitter	tagSNP	rs190540926
Clinvar_Rec_12427	rs886058837	Uncertain significance	Intellectual Disability with Language Impairment and Autistic Features	RCV000341763	MedGen	CN239203	criteria provided, single submitter	tagSNP	rs886058837
Clinvar_Rec_12428	rs780171188	Uncertain significance	Intellectual Disability with Language Impairment and Autistic Features	RCV000393825	MedGen	CN239203	criteria provided, single submitter	tagSNP	rs780171188
Clinvar_Rec_12429	rs181305605	Likely benign	Vesicoureteral reflux	RCV000379975	Human Phenotype Ontology;MedGen;SNOMED CT	HP;C0042580;197811007	criteria provided, single submitter	tagSNP	rs181305605
Clinvar_Rec_12430	rs761908536	Uncertain significance	Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;not provided	RCV000631178;RCV000631178;RCV000998105	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1856301;MedGen;232500;ORPHA308621;ORPHA308684;11179002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761908536
Clinvar_Rec_12431	rs189313287	Likely benign	Frontotemporal dementia	RCV000350500	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0338451;600274;ORPHA282;230270009	criteria provided, single submitter	tagSNP	rs189313287
Clinvar_Rec_12432	rs143373007	Conflicting interpretations of pathogenicity	Combined Pituitary Hormone Deficiency, Recessive;not provided;not specified	RCV000286336;RCV000727655;RCV000523099	MedGen	CN239344;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143373007
Clinvar_Rec_12433	rs863225149	Pathogenic	Joubert syndrome 8	RCV000201642	MedGen;OMIM	C2676771;612291	criteria provided, single submitter	tagSNP	rs863225149
Clinvar_Rec_12434	rs121912608	Pathogenic	Joubert syndrome 8	RCV000002070	MedGen;OMIM	C2676771;612291	criteria provided, single submitter	tagSNP	rs121912608
Clinvar_Rec_12435	rs774235804	Uncertain significance	Joubert syndrome	RCV000300429	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs774235804
Clinvar_Rec_12436	rs1553730872	Pathogenic	PONTOCEREBELLAR HYPOPLASIA, TYPE 11;Pontoneocerebellar hypoplasia	RCV000508996;RCV000515777	MedGen;OMIM;SNOMED CT	C4540164;617695;MedGen;373666002	no assertion criteria provided	tagSNP	rs1553730872
Clinvar_Rec_12437	rs13316513	Benign	Spastic paraplegia 57, autosomal recessive;not specified	RCV000548797;RCV000421282	MedGen;OMIM;Orphanet	C3714897;615658;ORPHA431329;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35648279
Clinvar_Rec_12438	rs13316513	Benign	Spastic paraplegia 57, autosomal recessive;not specified	RCV000549163;RCV000445152	MedGen;OMIM;Orphanet	C3714897;615658;ORPHA431329;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs41272979
Clinvar_Rec_12439	rs1431898500	Uncertain significance	Spastic paraplegia 57, autosomal recessive	RCV000542419	MedGen;OMIM;Orphanet	C3714897;615658;ORPHA431329	criteria provided, single submitter	tagSNP	rs1431898500
Clinvar_Rec_12440	rs140150886	Benign	Abnormality of neuronal migration	RCV000201414	Human Phenotype Ontology;MedGen	HP;C1837249	no assertion criteria provided	tagSNP	rs140150886
Clinvar_Rec_12441	rs35206248	Uncertain significance	Mental retardation, autosomal recessive 53	RCV000699479	MedGen;OMIM;Orphanet	C4310794;616917;ORPHA488635	criteria provided, single submitter	tagSNP	rs35206248
Clinvar_Rec_12442	rs780521818	Uncertain significance	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa	RCV000377308;RCV000285223;RCV000504695	MedGen;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	CN239263;MedGen;D012174;C0035334;268000;ORPHA791;28835009	criteria provided, single submitter	tagSNP	rs780521818
Clinvar_Rec_12443	rs138789637	Uncertain significance	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive	RCV000393014;RCV000342401	MedGen	CN239263;MedGen	criteria provided, single submitter	tagSNP	rs138789637
Clinvar_Rec_12444	rs144562730	Conflicting interpretations of pathogenicity	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive;not provided	RCV000288799;RCV000346036;RCV000178068	MedGen	CN239263;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144562730
Clinvar_Rec_12445	rs746141070	Likely pathogenic	Retinal dystrophy;Retinitis pigmentosa 40	RCV001073753;RCV000678598	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;613801	criteria provided, single submitter	tagSNP	rs746141070
Clinvar_Rec_12446	rs114100439	Likely benign	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive;not provided	RCV000325718;RCV000270690;RCV000961040	MedGen	CN239263;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114100439
Clinvar_Rec_12447	rs539768252	Uncertain significance	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive	RCV000361712;RCV000267066	MedGen	CN239263;MedGen	criteria provided, single submitter	tagSNP	rs539768252
Clinvar_Rec_12448	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000340349;RCV000675602;RCV000078395	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6815946
Clinvar_Rec_12449	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000404425;RCV000589331;RCV000078396	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6848974
Clinvar_Rec_12450	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000331543;RCV000675606;RCV000078400	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6830825
Clinvar_Rec_12451	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000332794;RCV000675607;RCV000078371	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6831280
Clinvar_Rec_12452	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000382727;RCV000590482;RCV000078372	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6836258
Clinvar_Rec_12453	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000282790;RCV000675610;RCV000078376	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115790973
Clinvar_Rec_12454	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000390914;RCV000675611;RCV000078378	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73066479
Clinvar_Rec_12455	rs6815946	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000336503;RCV000675612;RCV000078380	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115929690
Clinvar_Rec_12456	rs1553917376	Uncertain significance	Mucopolysaccharidosis type 1	RCV000631452	MedGen;Orphanet	C0023786;ORPHA579	criteria provided, single submitter	tagSNP	rs1553917376
Clinvar_Rec_12457	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000282790;RCV000675610;RCV000078376	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115790973
Clinvar_Rec_12458	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000340349;RCV000675602;RCV000078395	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6815946
Clinvar_Rec_12459	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000404425;RCV000589331;RCV000078396	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6848974
Clinvar_Rec_12460	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000331543;RCV000675606;RCV000078400	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6830825
Clinvar_Rec_12461	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000332794;RCV000675607;RCV000078371	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6831280
Clinvar_Rec_12462	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000382727;RCV000590482;RCV000078372	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs6836258
Clinvar_Rec_12463	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000390914;RCV000675611;RCV000078378	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73066479
Clinvar_Rec_12464	rs115790973	Benign	Mucopolysaccharidosis type 1;not provided;not specified	RCV000336503;RCV000675612;RCV000078380	MedGen;Orphanet	C0023786;ORPHA579;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs115929690
Clinvar_Rec_12465	rs761793564	Pathogenic/Likely pathogenic	Hurler syndrome;Mucopolysaccharidosis type 1	RCV000670111;RCV001061720	MedGen;OMIM;Orphanet;Orphanet	C0086795;607014;ORPHA93448;MedGen;ORPHA579	criteria provided, multiple submitters, no conflicts	tagSNP	rs761793564
Clinvar_Rec_12466	rs1553917455	Uncertain significance	Hurler syndrome	RCV000669732	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448	criteria provided, single submitter	tagSNP	rs1553917455
Clinvar_Rec_12467	rs587779401	Pathogenic	Hurler syndrome	RCV000087088	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448	no assertion criteria provided	tagSNP	rs587779401
Clinvar_Rec_12468	rs1553917756	Likely pathogenic	Hurler syndrome	RCV000669435	MedGen;OMIM;Orphanet	C0086795;607014;ORPHA93448	criteria provided, single submitter	tagSNP	rs1553917756
Clinvar_Rec_12469	rs3796619	association	Recombination rate quantitative trait locus 1	RCV000000771	MedGen;OMIM	C2677576;612042	no assertion criteria provided	tagSNP	rs3796619
Clinvar_Rec_12470	rs104886004	not provided	Sarcoma	RCV000119359	Human Phenotype Ontology;MedGen	HP;C1261473	no assertion provided	tagSNP	rs104886004
Clinvar_Rec_12471	rs104886006	not provided	Sarcoma	RCV000119361	Human Phenotype Ontology;MedGen	HP;C1261473	no assertion provided	tagSNP	rs104886006
Clinvar_Rec_12472	rs550551908	Likely benign	4p partial monosomy syndrome	RCV000297694	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs550551908
Clinvar_Rec_12473	rs141132577	Uncertain significance	4p partial monosomy syndrome	RCV000308228	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs141132577
Clinvar_Rec_12474	rs755058552	Uncertain significance	4p partial monosomy syndrome	RCV000382478	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs755058552
Clinvar_Rec_12475	rs886059332	Uncertain significance	4p partial monosomy syndrome	RCV000338064	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs886059332
Clinvar_Rec_12476	rs778656433	Uncertain significance	4p partial monosomy syndrome	RCV000341409	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	tagSNP	rs778656433
Clinvar_Rec_12477	rs144577122	Conflicting interpretations of pathogenicity	Fibrous dysplasia of jaw;not provided	RCV000269056;RCV000859715	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144577122
Clinvar_Rec_12478	rs116352165	Likely benign	Fibrous dysplasia of jaw	RCV000318283	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	LD derived	rs142420602
Clinvar_Rec_12479	rs886059363	Uncertain significance	Fibrous dysplasia of jaw	RCV000332573	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	tagSNP	rs886059363
Clinvar_Rec_12480	rs142540769	Likely benign	Fibrous dysplasia of jaw	RCV000401221	MedGen;OMIM;Orphanet;SNOMED CT	C0008029;118400;ORPHA184;76098004	criteria provided, single submitter	LD derived	rs544079376
Clinvar_Rec_12481	rs1553846331	Pathogenic	Myasthenia, limb-girdle, familial	RCV000655895	MedGen;OMIM	C1850792;254300	no assertion criteria provided	tagSNP	rs1553846331
Clinvar_Rec_12482	rs796052163	Likely benign	Long QT syndrome	RCV000190159	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	no assertion criteria provided	tagSNP	rs796052163
Clinvar_Rec_12483	rs747562782	Uncertain significance	Ellis-van Creveld syndrome	RCV000385270	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs747562782
Clinvar_Rec_12484	rs1553813318	Uncertain significance	Ellis-van Creveld syndrome	RCV000672549	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs1553813318
Clinvar_Rec_12485	rs778793911	Likely pathogenic	Ellis-van Creveld syndrome	RCV000669730	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs778793911
Clinvar_Rec_12486	rs370438593	Uncertain significance	Ellis-van Creveld syndrome	RCV000338707	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs370438593
Clinvar_Rec_12487	rs143491078	Conflicting interpretations of pathogenicity	Ellis-van Creveld syndrome;not provided;not specified	RCV000319438;RCV000966179;RCV001001927	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143491078
Clinvar_Rec_12488	rs143491078	Conflicting interpretations of pathogenicity	Ellis-van Creveld syndrome;not provided;not specified	RCV000374145;RCV000966180;RCV001001928	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005;MedGen	criteria provided, conflicting interpretations	LD derived	rs147173201
Clinvar_Rec_12489	rs147173201	Conflicting interpretations of pathogenicity	Ellis-van Creveld syndrome;not provided;not specified	RCV000374145;RCV000966180;RCV001001928	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147173201
Clinvar_Rec_12490	rs147173201	Conflicting interpretations of pathogenicity	Ellis-van Creveld syndrome;not provided;not specified	RCV000319438;RCV000966179;RCV001001927	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005;MedGen	criteria provided, conflicting interpretations	LD derived	rs143491078
Clinvar_Rec_12491	rs1431987950	Likely pathogenic	Ellis-van Creveld syndrome	RCV000673978	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs1431987950
Clinvar_Rec_12492	rs201583621	Likely benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000390476;RCV000351265	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs201583621
Clinvar_Rec_12493	rs6414624	Benign	Curry-Hall syndrome;Ellis-van Creveld syndrome;not specified	RCV000400923;RCV000297646;RCV000179558	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6414624
Clinvar_Rec_12494	rs780968816	Uncertain significance	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000362580;RCV000269867	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs780968816
Clinvar_Rec_12495	rs1553896708	Uncertain significance	Ellis-van Creveld syndrome	RCV000672575	MedGen;OMIM;Orphanet;SNOMED CT	C0013903;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs1553896708
Clinvar_Rec_12496	rs150173231	Uncertain significance	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000554752;RCV000554752	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs150173231
Clinvar_Rec_12497	rs137860758	Benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000333459;RCV000276028	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	tagSNP	rs137860758
Clinvar_Rec_12498	rs137860758	Benign	Curry-Hall syndrome;Ellis-van Creveld syndrome	RCV000358993;RCV000304437	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0457013;193530;ORPHA952;277807007;MedGen;225500;ORPHA289;62501005	criteria provided, single submitter	LD derived	rs75438311
Clinvar_Rec_12499	rs869025296	Uncertain significance	Familial cancer of breast	RCV000207332	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs869025296
Clinvar_Rec_12500	rs575822089	Pathogenic/Likely pathogenic	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3;Inborn genetic diseases;Syndromic Infantile Encephalopathy;not provided	RCV000210864;RCV000623429;RCV000755061;RCV000256086	MedGen;OMIM;Orphanet;MedGen	C4225161;616900;ORPHA488632;MeSH;C0950123;na;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs575822089
Clinvar_Rec_12501	rs267607215	no interpretation for the single variant	Sebaceous tumors, somatic	RCV000015459	MedGen	C1835244	no interpretation for the single variant	tagSNP	rs267607215
Clinvar_Rec_12502	rs17040904	Likely benign	Congenital Stationary Night Blindness, Recessive	RCV000342784	MedGen	CN239273	criteria provided, single submitter	tagSNP	rs17040904
Clinvar_Rec_12503	rs75301950	Benign/Likely benign	Congenital Stationary Night Blindness, Recessive;not specified	RCV000306793;RCV000176009	MedGen	CN239273;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs75301950
Clinvar_Rec_12504	rs9994891	Benign	Congenital Stationary Night Blindness, Recessive	RCV000393689	MedGen	CN239273	criteria provided, single submitter	tagSNP	rs9994891
Clinvar_Rec_12505	rs1057519483	Pathogenic	Axenfeld-Rieger syndrome type 1	RCV000416516	MedGen;OMIM	C3714873;180500	no assertion criteria provided	tagSNP	rs1057519483
Clinvar_Rec_12506	rs1057518892	Uncertain significance	Bowel incontinence;Difficulty walking;Dysarthria;Dysphagia;Progressive muscle weakness;Spastic paraplegia	RCV000414970;RCV000414970;RCV000414970;RCV000414970;RCV000414970;RCV000414970	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0015732;Human Phenotype Ontology;C0311394;Human Phenotype Ontology;C0013362;Human Phenotype Ontology;C0011168;Human Phenotype Ontology;C0240421;Human Phenotype Ontology;C0037772	criteria provided, single submitter	tagSNP	rs1057518892
Clinvar_Rec_12507	rs146964054	Conflicting interpretations of pathogenicity	Long QT syndrome;not provided;not specified	RCV000388930;RCV000858504;RCV000425431	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146964054
Clinvar_Rec_12508	rs150226540	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Long QT syndrome;not provided;not specified	RCV000618444;RCV000382392;RCV000170670;RCV000185493	MedGen;MedGen;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150226540
Clinvar_Rec_12509	rs191468663	Uncertain significance	Long QT syndrome	RCV000465652	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs191468663
Clinvar_Rec_12510	rs748939338	Uncertain significance	Cardiovascular phenotype;not provided	RCV000618869;RCV000522471	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748939338
Clinvar_Rec_12511	rs1554550305	Uncertain significance	Long QT syndrome	RCV000631618	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1554550305
Clinvar_Rec_12512	rs140992864	Benign/Likely benign	Cardiovascular phenotype;Long QT syndrome;not provided	RCV000246914;RCV000542104;RCV000590344	MedGen;MedGen;SNOMED CT	CN230736;MeSH;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140992864
Clinvar_Rec_12513	rs796052197	Likely pathogenic	Long QT syndrome	RCV000190220	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	no assertion criteria provided	tagSNP	rs796052197
Clinvar_Rec_12514	rs200765866	Conflicting interpretations of pathogenicity	Cardiac arrhythmia, ankyrin B-related;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	RCV000625123;RCV000618281;RCV000195655;RCV000171741;RCV000437855	MedGen;OMIM;MedGen;SNOMED CT	C1970119;600919;MedGen;C0023976;9651007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200765866
Clinvar_Rec_12515	rs139910215	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000250960;RCV000462776;RCV000419145	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139910215
Clinvar_Rec_12516	rs139910215	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000242963;RCV000464701;RCV000429892	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs149433267
Clinvar_Rec_12517	rs1564019461	Uncertain significance	Long QT syndrome	RCV000706486	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1564019461
Clinvar_Rec_12518	rs201693280	Uncertain significance	Long QT syndrome;not provided	RCV000537225;RCV000786103	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, single submitter	tagSNP	rs201693280
Clinvar_Rec_12519	rs35338364	Benign/Likely benign	Cardiomyopathy;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	RCV000852973;RCV000617957;RCV000230926;RCV000857644;RCV000441698	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35338364
Clinvar_Rec_12520	rs148904454	Uncertain significance	Long QT syndrome	RCV000469441	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs148904454
Clinvar_Rec_12521	rs374350634	Uncertain significance	Long QT syndrome	RCV000466984	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs374350634
Clinvar_Rec_12522	rs35194418	Benign	Bardet-Biedl syndrome 1;not provided;not specified	RCV000709682;RCV000470772;RCV000242686	MedGen;OMIM	C2936862;209900;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35194418
Clinvar_Rec_12523	rs886059060	Uncertain significance	Bardet-Biedl syndrome;Bardet-Biedl syndrome 12	RCV000262356;RCV000674057	MedGen;Orphanet;SNOMED CT;OMIM	C0752166;ORPHA110;5619004;MedGen;615989	criteria provided, multiple submitters, no conflicts	tagSNP	rs886059060
Clinvar_Rec_12524	rs370427695	Uncertain significance	Epilepsy, hearing loss, and mental retardation syndrome	RCV000652796	MedGen;OMIM;Orphanet	C4225276;616577;ORPHA457351	criteria provided, single submitter	tagSNP	rs370427695
Clinvar_Rec_12525	rs1560894236	Likely pathogenic	Epilepsy, hearing loss, and mental retardation syndrome	RCV000689594	MedGen;OMIM;Orphanet	C4225276;616577;ORPHA457351	criteria provided, single submitter	tagSNP	rs1560894236
Clinvar_Rec_12526	rs886059074	Uncertain significance	Smith-McCort dysplasia	RCV000396529	MedGen;Orphanet	C1846431;ORPHA178355	criteria provided, single submitter	tagSNP	rs886059074
Clinvar_Rec_12527	rs1553959122	Uncertain significance	Vitamin B12-responsive methylmalonic acidemia type cblA	RCV000673376	MedGen;OMIM;Orphanet	C1855109;251100;ORPHA79310	criteria provided, single submitter	tagSNP	rs1553959122
Clinvar_Rec_12528	rs193920995	Uncertain significance	Malignant tumor of prostate	RCV000149244	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920995
Clinvar_Rec_12529	rs17031981	Likely benign	Leber congenital amaurosis;Retinal dystrophy;Retinitis Pigmentosa, Recessive;not provided	RCV000305110;RCV000391650;RCV000344978;RCV000086207	MeSH;MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	D057130;C0339527;ORPHA65;193413001;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs17031981
Clinvar_Rec_12530	rs121964956	Pathogenic/Likely pathogenic	Glutaric acidemia IIC;Glutaric aciduria, type 2	RCV000012810;RCV000721976	MedGen;OMIM;Orphanet;SNOMED CT	C3278156;MedGen;231680;ORPHA26791;22886006	no assertion criteria provided	tagSNP	rs121964956
Clinvar_Rec_12531	rs374554530	Uncertain significance	Joubert syndrome;Meckel-Gruber syndrome;not provided	RCV001063569;RCV001063569;RCV000734125	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374554530
Clinvar_Rec_12532	rs386833746	Likely pathogenic	Meckel syndrome type 6	RCV000049710	MedGen;OMIM	C2676790;612284	no assertion criteria provided	tagSNP	rs386833746
Clinvar_Rec_12533	rs754221308	Pathogenic	Joubert syndrome 9	RCV000201529	MedGen;OMIM	C2676788;612285	criteria provided, single submitter	tagSNP	rs754221308
Clinvar_Rec_12534	rs753770061	Conflicting interpretations of pathogenicity	CC2D2A-Related Disorders;Joubert syndrome;Meckel-Gruber syndrome;not provided	RCV000379534;RCV000338996;RCV000283981;RCV000226199	MedGen;MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT	CN239313;Human Phenotype Ontology;C0431399;ORPHA475;253175003;716997004;MedGen;ORPHA564;29076005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs753770061
Clinvar_Rec_12535	rs112952685	Likely benign	Cone-Rod Dystrophy, Dominant;Retinal Macular Dystrophy;Retinitis Pigmentosa, Recessive;Stargardt Disease, Dominant	RCV000302181;RCV000266972;RCV000359246;RCV000305762	MedGen	CN239348;MedGen	criteria provided, single submitter	tagSNP	rs112952685
Clinvar_Rec_12536	rs202041422	Uncertain significance	Cone-Rod Dystrophy, Dominant;Retinal Macular Dystrophy;Retinitis Pigmentosa, Recessive;Stargardt Disease, Dominant	RCV000399717;RCV000335053;RCV000304480;RCV000282344	MedGen	CN239348;MedGen	criteria provided, single submitter	tagSNP	rs202041422
Clinvar_Rec_12537	rs138897963	Conflicting interpretations of pathogenicity	Carcinoma of pancreas;not provided	RCV000271106;RCV000116059	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C562463;C0235974;260350;ORPHA217074;372142002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138897963
Clinvar_Rec_12538	rs17054482	Benign	Carcinoma of pancreas	RCV000278588	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C562463;C0235974;260350;ORPHA217074;372142002	criteria provided, single submitter	tagSNP	rs17054482
Clinvar_Rec_12539	rs863224705	Uncertain significance	Pancreatic adenocarcinoma	RCV000196326	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs863224705
Clinvar_Rec_12540	rs778313832	Uncertain significance	Pancreatic adenocarcinoma	RCV000653481	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs778313832
Clinvar_Rec_12541	rs1553965480	Likely benign	Pancreatic adenocarcinoma	RCV000653482	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs1553965480
Clinvar_Rec_12542	rs878854264	Uncertain significance	Pancreatic adenocarcinoma	RCV000229224	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs878854264
Clinvar_Rec_12543	rs114250766	Benign/Likely benign	Carcinoma of pancreas;not provided	RCV000369325;RCV000199612	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C562463;C0235974;260350;ORPHA217074;372142002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs114250766
Clinvar_Rec_12544	rs1470434769	Uncertain significance	Pancreatic adenocarcinoma	RCV000653476	Human Phenotype Ontology;MedGen	HP;C0281361	criteria provided, single submitter	tagSNP	rs1470434769
Clinvar_Rec_12545	rs28535644	Likely benign	Carcinoma of pancreas	RCV000376121	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C562463;C0235974;260350;ORPHA217074;372142002	criteria provided, single submitter	LD derived	rs112116419
Clinvar_Rec_12546	rs55740606	Conflicting interpretations of pathogenicity	Short Rib Polydactyly Syndrome;not provided	RCV000372720;RCV000878506	MedGen;Orphanet	C0036996;ORPHA1505;MedGen	criteria provided, conflicting interpretations	tagSNP	rs55740606
Clinvar_Rec_12547	rs1362848762	Pathogenic	Short rib-polydactyly syndrome, Majewski type	RCV000515894	MedGen;OMIM;Orphanet;SNOMED CT	C0024507;263520;ORPHA93269;72922008	no assertion criteria provided	tagSNP	rs1362848762
Clinvar_Rec_12548	rs121434481	Pathogenic	Digital clubbing, isolated congenital	RCV000008382	MedGen;OMIM;Orphanet	C0345408;119900;ORPHA217059	no assertion criteria provided	tagSNP	rs121434481
Clinvar_Rec_12549	rs548208942	Pathogenic	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	RCV000008381	MedGen;OMIM	C4551679;259100	no assertion criteria provided	tagSNP	rs548208942
Clinvar_Rec_12550	rs150786764	Conflicting interpretations of pathogenicity	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;not provided;not specified	RCV000406594;RCV000884082;RCV000425551	MedGen	CN239267;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150786764
Clinvar_Rec_12551	rs3736456	Benign	Bietti crystalline corneoretinal dystrophy;Corneal Dystrophy, Recessive;not specified	RCV000288722;RCV000325070;RCV000153132	MedGen;OMIM;Orphanet	C1859486;210370;ORPHA41751;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3736456
Clinvar_Rec_12552	rs797045181	Pathogenic	Bietti crystalline corneoretinal dystrophy	RCV000191926	MedGen;OMIM;Orphanet	C1859486;210370;ORPHA41751	no assertion criteria provided	tagSNP	rs797045181
Clinvar_Rec_12553	rs1057517116	Likely pathogenic	Hereditary factor XI deficiency disease	RCV000411048	MedGen;OMIM;Orphanet;SNOMED CT	C0015523;612416;ORPHA329;49762007	criteria provided, single submitter	tagSNP	rs1057517116
Clinvar_Rec_12554	rs121965064	Pathogenic/Likely pathogenic	Hereditary factor XI deficiency disease;not provided	RCV000012667;RCV000727626	MedGen;OMIM;Orphanet;SNOMED CT	C0015523;612416;ORPHA329;49762007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121965064
Clinvar_Rec_12555	rs5970	Benign	Hereditary factor XI deficiency disease;not specified	RCV000276855;RCV000245406	MedGen;OMIM;Orphanet;SNOMED CT	C0015523;612416;ORPHA329;49762007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs5970
Clinvar_Rec_12556	rs1057517171	Likely pathogenic	Hereditary factor XI deficiency disease	RCV000411882	MedGen;OMIM;Orphanet;SNOMED CT	C0015523;612416;ORPHA329;49762007	criteria provided, single submitter	tagSNP	rs1057517171
Clinvar_Rec_12557	rs17584431	Benign/Likely benign	Cranioectodermal dysplasia;Jeune thoracic dystrophy;not specified	RCV000357935;RCV000263260;RCV000252308	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	CN119432;ORPHA1515;254093009;MedGen;ORPHA474;75049004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17584431
Clinvar_Rec_12558	rs369125654	Uncertain significance	Pyruvate dehydrogenase lipoic acid synthetase deficiency	RCV000690970	MedGen;OMIM;Orphanet	C3280887;614462;ORPHA401859	criteria provided, single submitter	tagSNP	rs369125654
Clinvar_Rec_12559	rs745503233	Uncertain significance	Congenital central hypoventilation;Neuroblastoma	RCV000290498;RCV000340864	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C1275808;209880;ORPHA661;399040002;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635	criteria provided, single submitter	tagSNP	rs745503233
Clinvar_Rec_12560	rs752879767	Uncertain significance	Congenital central hypoventilation;Hereditary cancer-predisposing syndrome	RCV000555778;RCV001017548	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1275808;209880;ORPHA661;399040002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs752879767
Clinvar_Rec_12561	rs775569375	Uncertain significance	Congenital central hypoventilation;Neuroblastoma	RCV000346761;RCV000396845	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet	C1275808;209880;ORPHA661;399040002;Human Phenotype Ontology;D009447;C2749484;256700;ORPHA635	criteria provided, single submitter	tagSNP	rs775569375
Clinvar_Rec_12562	rs886059420	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000395574	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886059420
Clinvar_Rec_12563	rs104893868	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2E	RCV000009251	MedGen;OMIM;Orphanet	C1858593;604286;ORPHA119	criteria provided, single submitter	tagSNP	rs104893868
Clinvar_Rec_12564	rs751427686	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2E	RCV000544134	MedGen;OMIM;Orphanet	C1858593;604286;ORPHA119	criteria provided, single submitter	tagSNP	rs751427686
Clinvar_Rec_12565	rs1452778513	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2E	RCV000699986	MedGen;OMIM;Orphanet	C1858593;604286;ORPHA119	criteria provided, single submitter	tagSNP	rs1452778513
Clinvar_Rec_12566	rs1799767	Benign	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000365137;RCV000396309	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	tagSNP	rs1799767
Clinvar_Rec_12567	rs556234462	Uncertain significance	Gastrointestinal stromal tumor	RCV000468730	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	LD derived	rs536663502
Clinvar_Rec_12568	rs138929755	Uncertain significance	Gastrointestinal stromal tumor	RCV000545506	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs138929755
Clinvar_Rec_12569	rs138929755	Uncertain significance	Gastrointestinal stromal tumor	RCV000633792	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs138929755
Clinvar_Rec_12570	rs138929755	Uncertain significance	Gastrointestinal stromal tumor	RCV000705127	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs138929755
Clinvar_Rec_12571	rs749421720	Uncertain significance	Gastrointestinal stromal tumor	RCV000694677	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs749421720
Clinvar_Rec_12572	rs762651640	Uncertain significance	Gastrointestinal stromal tumor	RCV000233937	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs762651640
Clinvar_Rec_12573	rs762651640	Uncertain significance	Gastrointestinal stromal tumor	RCV000228913	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs762651640
Clinvar_Rec_12574	rs372990693	Uncertain significance	Gastrointestinal stromal tumor	RCV000692991	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs372990693
Clinvar_Rec_12575	rs587776795	Pathogenic	Gastrointestinal stromal tumor	RCV000014507	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	no assertion criteria provided	tagSNP	rs587776795
Clinvar_Rec_12576	rs1060501510	Uncertain significance	Gastrointestinal stromal tumor	RCV000458061	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1060501510
Clinvar_Rec_12577	rs606231209	Pathogenic	Gastrointestinal stromal tumor	RCV000014508	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	no assertion criteria provided	tagSNP	rs606231209
Clinvar_Rec_12578	rs1560480581	Uncertain significance	Gastrointestinal stromal tumor	RCV000688905	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1560480581
Clinvar_Rec_12579	rs587778595	Uncertain significance	Gastrointestinal stromal tumor	RCV000459085	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs587778595
Clinvar_Rec_12580	rs1553904462	Likely benign	Gastrointestinal stromal tumor	RCV000526901	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1553904462
Clinvar_Rec_12581	rs1057519811	Likely pathogenic	Cutaneous melanoma	RCV000423704	Human Phenotype Ontology;MeSH;MedGen	HP;D008545;C0025202	no assertion criteria provided	tagSNP	rs1057519811
Clinvar_Rec_12582	rs778015444	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome	RCV000707621;RCV001012885	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs778015444
Clinvar_Rec_12583	rs1060501505	Uncertain significance	Gastrointestinal stromal tumor	RCV000475013	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1060501505
Clinvar_Rec_12584	rs1553904885	Likely benign	Gastrointestinal stromal tumor	RCV000633872	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1553904885
Clinvar_Rec_12585	rs1164252451	Uncertain significance	Gastrointestinal stromal tumor	RCV000633794	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1164252451
Clinvar_Rec_12586	rs1553906632	Uncertain significance	Gastrointestinal stromal tumor	RCV000558713	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1553906632
Clinvar_Rec_12587	rs1553906650	Uncertain significance	Gastrointestinal stromal tumor	RCV000528364	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890	criteria provided, single submitter	tagSNP	rs1553906650
Clinvar_Rec_12588	rs373134586	Uncertain significance	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000336786;RCV000404487	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	tagSNP	rs373134586
Clinvar_Rec_12589	rs554089461	Uncertain significance	Gastrointestinal stromal tumor;Idiopathic hypereosinophilic syndrome	RCV000355461;RCV000262998	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;Orphanet	HP;D046152;C0238198;606764;ORPHA44890;MedGen;607685;ORPHA3260	criteria provided, single submitter	tagSNP	rs554089461
Clinvar_Rec_12590	rs55755457	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome	RCV000459377;RCV001009720	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs55755457
Clinvar_Rec_12591	rs34231037	Likely benign	Hemangioma, capillary infantile;not specified	RCV000013111;RCV000121295	MedGen;OMIM	C1865871;602089;MedGen	criteria provided, single submitter	tagSNP	rs34231037
Clinvar_Rec_12592	rs267607092	Pathogenic	Congenital disorder of glycosylation type 1Q	RCV000000893	MedGen;OMIM;Orphanet	C4317224;612379;ORPHA324737	no assertion criteria provided	tagSNP	rs267607092
Clinvar_Rec_12593	rs13149568	Benign	Congenital disorder of glycosylation	RCV000276891	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs13149568
Clinvar_Rec_12594	rs34401111	Likely benign	Congenital disorder of glycosylation	RCV000274211	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs28712413
Clinvar_Rec_12595	rs111673705	Likely benign	Bone marrow failure syndrome 1;not specified	RCV000363461;RCV000502255	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111673705
Clinvar_Rec_12596	rs886059566	Uncertain significance	Isolated GnRH Deficiency	RCV000404324	MedGen	CN239347	criteria provided, single submitter	tagSNP	rs886059566
Clinvar_Rec_12597	rs147261946	Benign/Likely benign	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation;not provided	RCV000363266;RCV000908613	MedGen;OMIM;Orphanet	C1970309;604278;ORPHA93607;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147261946
Clinvar_Rec_12598	rs147261946	Likely benign	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	RCV000337236	MedGen;OMIM;Orphanet	C1970309;604278;ORPHA93607	criteria provided, single submitter	LD derived	rs368650087
Clinvar_Rec_12599	rs147261946	Likely benign	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	RCV000347737	MedGen;OMIM;Orphanet	C1970309;604278;ORPHA93607	criteria provided, single submitter	LD derived	rs375540927
Clinvar_Rec_12600	rs147261946	Likely benign	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	RCV000297699	MedGen;OMIM;Orphanet	C1970309;604278;ORPHA93607	criteria provided, single submitter	LD derived	rs369784676
Clinvar_Rec_12601	rs193921131	Uncertain significance	Malignant tumor of prostate	RCV000149207	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193921131
Clinvar_Rec_12602	rs1553948019	Uncertain significance	Progressive myoclonic epilepsy	RCV000638317	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs1553948019
Clinvar_Rec_12603	rs886059622	Uncertain significance	Fraser syndrome 1	RCV000261189	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs886059622
Clinvar_Rec_12604	rs376487875	Uncertain significance	Fraser syndrome 1	RCV000327375	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs376487875
Clinvar_Rec_12605	rs759150629	Uncertain significance	Fraser syndrome 1	RCV000369746	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs759150629
Clinvar_Rec_12606	rs150998139	Conflicting interpretations of pathogenicity	Fraser syndrome 1;not provided	RCV000366027;RCV000903182	MedGen;OMIM	C4551480;219000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150998139
Clinvar_Rec_12607	rs182887871	Conflicting interpretations of pathogenicity	Fraser syndrome 1;not provided	RCV000279659;RCV000911142	MedGen;OMIM	C4551480;219000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182887871
Clinvar_Rec_12608	rs550166836	Uncertain significance	Fraser syndrome 1	RCV000330920	MedGen;OMIM	C4551480;219000	criteria provided, single submitter	tagSNP	rs550166836
Clinvar_Rec_12609	rs140492803	Conflicting interpretations of pathogenicity	Fraser syndrome 1;not provided;not specified	RCV000366948;RCV000870813;RCV000405453	MedGen;OMIM	C4551480;219000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140492803
Clinvar_Rec_12610	rs140492803	Conflicting interpretations of pathogenicity	Fraser syndrome 1;not provided;not specified	RCV000306234;RCV000870812;RCV000279868	MedGen;OMIM	C4551480;219000;MedGen	criteria provided, conflicting interpretations	LD derived	rs151307846
Clinvar_Rec_12611	rs886059662	Uncertain significance	Hyaline fibromatosis syndrome	RCV000396575	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C2745948;228600;ORPHA2028;238861002;238867003	criteria provided, single submitter	tagSNP	rs886059662
Clinvar_Rec_12612	rs72869605	Likely benign	Hyaline fibromatosis syndrome	RCV000311655	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C2745948;228600;ORPHA2028;238861002;238867003	criteria provided, single submitter	tagSNP	rs72869605
Clinvar_Rec_12613	rs863225286	Pathogenic	Epilepsy, progressive myoclonic, 10	RCV000201931	MedGen;OMIM;Orphanet	C4225258;616640;ORPHA324290	no assertion criteria provided	tagSNP	rs863225286
Clinvar_Rec_12614	rs1422650743	Uncertain significance	Epilepsy, progressive myoclonic, 10	RCV000705211	MedGen;OMIM;Orphanet	C4225258;616640;ORPHA324290	criteria provided, single submitter	tagSNP	rs1422650743
Clinvar_Rec_12615	rs112033303	Benign/Likely benign	Coenzyme Q10 deficiency, primary 1;not provided;not specified	RCV000721994;RCV000676770;RCV000124539	MedGen;OMIM	C3551954;607426;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112033303
Clinvar_Rec_12616	rs55663953	Benign	Epileptic encephalopathy;not provided;not specified	RCV000344120;RCV000960845;RCV000117595	Human Phenotype Ontology;MedGen	HP;C0543888;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs55663953
Clinvar_Rec_12617	rs587776696	Pathogenic	Autosomal recessive hypophosphatemic vitamin D refractory rickets	RCV000009104	MedGen;OMIM;SNOMED CT	C4551495;241520;90505000	criteria provided, single submitter	tagSNP	rs587776696
Clinvar_Rec_12618	rs149603030	Uncertain significance	Hypophosphatemic Rickets, Recessive;not specified	RCV000267594;RCV000502875	MedGen	CN239452;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149603030
Clinvar_Rec_12619	rs138982773	Conflicting interpretations of pathogenicity	Polycystic kidney disease, autosomal dominant;not provided	RCV000278882;RCV000756536	MedGen;Orphanet	C0085413;ORPHA730;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138982773
Clinvar_Rec_12620	rs886059728	Uncertain significance	Parkinson Disease, Dominant	RCV000332885	MedGen	CN239359	criteria provided, single submitter	tagSNP	rs886059728
Clinvar_Rec_12621	rs886058963	Uncertain significance	Abetalipoproteinaemia	RCV000355423	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0000744;200100;ORPHA14;190787008	criteria provided, single submitter	tagSNP	rs886058963
Clinvar_Rec_12622	rs886058964	Uncertain significance	Abetalipoproteinaemia	RCV000329928	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0000744;200100;ORPHA14;190787008	criteria provided, single submitter	tagSNP	rs886058964
Clinvar_Rec_12623	rs752343321	Pathogenic	Beta-D-mannosidosis	RCV000001745	MedGen;OMIM;Orphanet;SNOMED CT	C4048196;248510;ORPHA118;238047006	no assertion criteria provided	tagSNP	rs752343321
Clinvar_Rec_12624	rs760686493	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573583;RCV000541221	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760686493
Clinvar_Rec_12625	rs375194444	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5;not provided	RCV000571145;RCV000225792;RCV000225792;RCV000484270	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375194444
Clinvar_Rec_12626	rs876658698	Likely benign	Hereditary cancer-predisposing syndrome	RCV000218407	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658698
Clinvar_Rec_12627	rs185090565	Uncertain significance	Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma	RCV000285270;RCV000379866;RCV000334630	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0023264;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	LD derived	rs193112615
Clinvar_Rec_12628	rs141137113	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not provided;not specified	RCV000571465;RCV000291747;RCV000394814;RCV000339713;RCV000239367;RCV000418051	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61733344
Clinvar_Rec_12629	rs141137113	Likely benign	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000551101;RCV000551101	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	LD derived	rs34771391
Clinvar_Rec_12630	rs141137113	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not provided;not specified	RCV000570502;RCV000287211;RCV000317795;RCV000372488;RCV000210510;RCV000426962	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34771391
Clinvar_Rec_12631	rs530036353	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV001012294;RCV000466069;RCV000466069	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	LD derived	rs370291114
Clinvar_Rec_12632	rs121434346	Pathogenic/Likely pathogenic	Hyperglycinuria;Iminoglycinuria;Neutral 1 amino acid transport defect;Neutral 1 amino acid transport defect;not provided	RCV000763127;RCV000763127;RCV000002096;RCV000763127;RCV000413766	Human Phenotype Ontology;MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	HP;C0543541;138500;MedGen;242600;ORPHA42062;84121007;MedGen;234500;ORPHA2116;80902009;MedGen;234500;ORPHA2116;80902009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121434346
Clinvar_Rec_12633	rs114331542	Likely benign	Aplastic anemia;Dyskeratosis Congenita, Recessive;Idiopathic fibrosing alveolitis, chronic form	RCV000400797;RCV000339286;RCV000300731	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	HP;C0002874;609135;ORPHA182040;306058006;MedGen;178500;28168000	criteria provided, single submitter	LD derived	rs114012142
Clinvar_Rec_12634	rs1561203868	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000696475;RCV000696475	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1561203868
Clinvar_Rec_12635	rs1265160730	Uncertain significance	Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form	RCV000700053;RCV000700053	MedGen;OMIM;OMIM;SNOMED CT	C3151443;613989;MedGen;178500;28168000	criteria provided, single submitter	tagSNP	rs1265160730
Clinvar_Rec_12636	rs756450204	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000717765;RCV000365320;RCV000894926	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs756450204
Clinvar_Rec_12637	rs185235284	Uncertain significance	Disorders of Intracellular Cobalamin Metabolism	RCV000337918	MedGen	CN043592	criteria provided, single submitter	tagSNP	rs185235284
Clinvar_Rec_12638	rs2578639	Benign	Sensory Neuropathy with Spastic Paraplegia	RCV000388774	MedGen	CN239462	criteria provided, single submitter	tagSNP	rs2578639
Clinvar_Rec_12639	rs144265705	Uncertain significance	Primary ciliary dyskinesia	RCV000314443	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs144265705
Clinvar_Rec_12640	rs727502971	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia	RCV000150465	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	tagSNP	rs727502971
Clinvar_Rec_12641	rs755271975	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000286802;RCV000868271	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs755271975
Clinvar_Rec_12642	rs30169	Benign/Likely benign	Primary ciliary dyskinesia;not provided;not specified	RCV000358362;RCV000860082;RCV000155502	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs30169
Clinvar_Rec_12643	rs30169	Benign/Likely benign	Primary ciliary dyskinesia;not specified	RCV000290306;RCV000150464	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs30175
Clinvar_Rec_12644	rs30169	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000265989;RCV000860083;RCV000155503	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs30168
Clinvar_Rec_12645	rs774415631	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000355744;RCV000867309	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs774415631
Clinvar_Rec_12646	rs571919972	Pathogenic	Ciliary dyskinesia, primary, 3;Primary ciliary dyskinesia	RCV000679863;RCV000233866	MedGen;OMIM;MedGen;Orphanet	C1837618;608644;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	tagSNP	rs571919972
Clinvar_Rec_12647	rs149956015	Uncertain significance	Primary ciliary dyskinesia	RCV000477490	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs149956015
Clinvar_Rec_12648	rs1554058577	Uncertain significance	Primary ciliary dyskinesia	RCV000530061	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1554058577
Clinvar_Rec_12649	rs151336435	Uncertain significance	Primary ciliary dyskinesia	RCV000560453	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs151336435
Clinvar_Rec_12650	rs114220185	Conflicting interpretations of pathogenicity	Ciliary dyskinesia, primary, 3;Primary ciliary dyskinesia;not provided;not specified	RCV000667117;RCV000206301;RCV000858238;RCV000242149	MedGen;OMIM;MedGen;Orphanet	C1837618;608644;Human Phenotype Ontology;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs114220185
Clinvar_Rec_12651	rs78431233	Benign	Chondrocalcinosis;Craniometaphyseal dysplasia	RCV000275449;RCV000309955	Human Phenotype Ontology;MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0553730;ORPHA1416;MedGen;269300;ORPHA1522;36601008	criteria provided, single submitter	tagSNP	rs78431233
Clinvar_Rec_12652	rs185346146	Uncertain significance	Familial adenomatous polyposis 1	RCV000646663	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs185346146
Clinvar_Rec_12653	rs1554071538	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000584639	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554071538
Clinvar_Rec_12654	rs1554071540	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000580359	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554071540
Clinvar_Rec_12655	rs137854576	Pathogenic	Familial adenomatous polyposis 1	RCV000000852	MedGen;OMIM	C2713442;175100	no assertion criteria provided	tagSNP	rs137854576
Clinvar_Rec_12656	rs1554074738	Pathogenic	Familial adenomatous polyposis;Familial adenomatous polyposis 1;not provided	RCV000502052;RCV000700265;RCV000657601	MedGen;OMIM	CN240755;MedGen;175100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554074738
Clinvar_Rec_12657	rs367816013	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000775122;RCV000474094;RCV000443534	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs367816013
Clinvar_Rec_12658	rs1255190244	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000536773;RCV001025610	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1255190244
Clinvar_Rec_12659	rs1554074747	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000567190	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554074747
Clinvar_Rec_12660	rs1554074749	Uncertain significance	Familial adenomatous polyposis 1	RCV000646318	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs1554074749
Clinvar_Rec_12661	rs397515734	Pathogenic	Carcinoma of colon;Desmoid disease, hereditary;Familial adenomatous polyposis;Familial adenomatous polyposis 1;Familial adenomatous polyposis 1;Familial multiple polyposis syndrome;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Neoplasm of stomach;not provided	RCV000763537;RCV000763537;RCV000501093;RCV000035081;RCV000763537;RCV000844606;RCV000763537;RCV000491782;RCV000763537;RCV000486263	MedGen;OMIM;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C0009402;114500;269533000;MedGen;135290;MedGen;175100;MedGen;175100;MedGen;ORPHA733;72900001;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D013274;C0038356;613659;126824007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397515734
Clinvar_Rec_12662	rs1554074772	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000547219;RCV000563146	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554074772
Clinvar_Rec_12663	rs1554074777	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000543481;RCV001025921	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554074777
Clinvar_Rec_12664	rs1554074786	Pathogenic	Familial adenomatous polyposis	RCV000504016	MedGen	CN240755	criteria provided, single submitter	tagSNP	rs1554074786
Clinvar_Rec_12665	rs1433658799	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563056	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1433658799
Clinvar_Rec_12666	rs148343173	Likely benign	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000411887;RCV000166005;RCV000858854;RCV000433397	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148343173
Clinvar_Rec_12667	rs1554080016	Pathogenic	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646353;RCV001017313	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554080016
Clinvar_Rec_12668	rs1003390887	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided	RCV000474960;RCV000561404;RCV000519043	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1003390887
Clinvar_Rec_12669	rs772204077	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000564067;RCV000937259	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772204077
Clinvar_Rec_12670	rs864622539	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000563662;RCV000206398	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622539
Clinvar_Rec_12671	rs878853426	Pathogenic	Familial adenomatous polyposis 1	RCV000234542	MedGen;OMIM	C2713442;175100	criteria provided, single submitter	tagSNP	rs878853426
Clinvar_Rec_12672	rs1554085707	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569355	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554085707
Clinvar_Rec_12673	rs765104249	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000701894;RCV000775336	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs765104249
Clinvar_Rec_12674	rs1320719611	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000772553;RCV000934421	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1320719611
Clinvar_Rec_12675	rs886040965	Pathogenic	Acute aortic dissection;Aortic aneurysm, familial thoracic 10;Familial thoracic aortic aneurysm	RCV000755148;RCV000258025;RCV000755148	MedGen;OMIM	C0241868;MedGen;617168;MedGen	no assertion criteria provided	tagSNP	rs886040965
Clinvar_Rec_12676	rs886059825	Uncertain significance	Parkinson Disease, Dominant/Recessive	RCV000262434	MedGen	CN239308	criteria provided, single submitter	tagSNP	rs886059825
Clinvar_Rec_12677	rs146127744	Likely benign	Parkinson Disease, Dominant/Recessive	RCV000270655	MedGen	CN239308	criteria provided, single submitter	LD derived	rs149180835
Clinvar_Rec_12678	rs376567957	Benign	Short-rib thoracic dysplasia 13 with or without polydactyly	RCV000545174	MedGen;OMIM	C4225378;616300	criteria provided, single submitter	LD derived	rs75289011
Clinvar_Rec_12679	rs140306974	Uncertain significance	Short-rib thoracic dysplasia 13 with or without polydactyly	RCV000653254	MedGen;OMIM	C4225378;616300	criteria provided, single submitter	tagSNP	rs140306974
Clinvar_Rec_12680	rs1554102026	Pathogenic	JOUBERT SYNDROME 31	RCV000515151	MedGen;OMIM	C4540355;617761	no assertion criteria provided	tagSNP	rs1554102026
Clinvar_Rec_12681	rs569779496	Uncertain significance	Short-rib thoracic dysplasia 13 with or without polydactyly	RCV000700620	MedGen;OMIM	C4225378;616300	criteria provided, single submitter	LD derived	rs147277049
Clinvar_Rec_12682	rs886059849	Uncertain significance	Pyridoxine-dependent epilepsy	RCV000274095	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006	criteria provided, multiple submitters, no conflicts	tagSNP	rs886059849
Clinvar_Rec_12683	rs121912707	Pathogenic/Likely pathogenic	Pyridoxine-dependent epilepsy;Seizures;not provided	RCV000019610;RCV000718443;RCV000186744	MedGen;OMIM;Orphanet;MedGen	C1849508;266100;ORPHA3006;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121912707
Clinvar_Rec_12684	rs370869432	Uncertain significance	Pyridoxine-dependent epilepsy;not provided	RCV001071821;RCV000432711	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370869432
Clinvar_Rec_12685	rs60720055	Benign/Likely benign	Pyridoxine-dependent epilepsy;Seizures;not provided;not specified	RCV000314887;RCV000715331;RCV000857337;RCV000116311	MedGen;OMIM;Orphanet;MedGen	C1849508;266100;ORPHA3006;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs60720055
Clinvar_Rec_12686	rs764996899	Uncertain significance	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000649867	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	tagSNP	rs764996899
Clinvar_Rec_12687	rs146279465	Likely benign	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000543015	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	tagSNP	rs146279465
Clinvar_Rec_12688	rs1057518682	Pathogenic	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000415251	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	no assertion criteria provided	tagSNP	rs1057518682
Clinvar_Rec_12689	rs140563851	Conflicting interpretations of pathogenicity	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset;not provided;not specified	RCV000259200;RCV000859593;RCV000603136	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140563851
Clinvar_Rec_12690	rs886059865	Uncertain significance	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000332828	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	tagSNP	rs886059865
Clinvar_Rec_12691	rs755639288	Uncertain significance	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000553475	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	tagSNP	rs755639288
Clinvar_Rec_12692	rs76059053	Uncertain significance	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000357192	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	tagSNP	rs76059053
Clinvar_Rec_12693	rs76059053	Uncertain significance	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	RCV000369684	MedGen;OMIM;Orphanet	C3280679;614399;ORPHA439212	criteria provided, single submitter	LD derived	rs17164927
Clinvar_Rec_12694	rs199925656	Likely benign	Congenital contractural arachnodactyly	RCV000357543	MedGen;OMIM;Orphanet;SNOMED CT	C0220668;121050;ORPHA115;205821003	criteria provided, single submitter	tagSNP	rs199925656
Clinvar_Rec_12695	rs144574441	Benign/Likely benign	Cardiovascular phenotype;Congenital contractural arachnodactyly;not provided;not specified	RCV000251391;RCV000296777;RCV000589213;RCV000246954	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;121050;ORPHA115;205821003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144574441
Clinvar_Rec_12696	rs1554117089	Likely benign	Cardiovascular phenotype	RCV000618963	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554117089
Clinvar_Rec_12697	rs538643468	Uncertain significance	Renal carnitine transport defect	RCV000381602	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	tagSNP	rs538643468
Clinvar_Rec_12698	rs1554085892	Likely pathogenic	Renal carnitine transport defect	RCV000665371	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	tagSNP	rs1554085892
Clinvar_Rec_12699	rs121908893	Pathogenic	Renal carnitine transport defect;not provided;not specified	RCV000006795;RCV000490002;RCV000506929	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908893
Clinvar_Rec_12700	rs886059912	Uncertain significance	Renal carnitine transport defect	RCV000286971	MedGen;OMIM;Orphanet;SNOMED CT	C0342788;212140;ORPHA158;21764004	criteria provided, single submitter	tagSNP	rs886059912
Clinvar_Rec_12701	rs539917096	Uncertain significance	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder;Premature ovarian insufficiency;not provided	RCV000115937;RCV000515380;RCV000766182;RCV000212914	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen	C0027672;ORPHA140162;699346009;MedGen;613078;ORPHA240760;Human Phenotype Ontology;C0025322;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28903092
Clinvar_Rec_12702	rs539917096	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000217648	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	LD derived	rs28903092
Clinvar_Rec_12703	rs374597425	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573551;RCV000875778	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374597425
Clinvar_Rec_12704	rs863224744	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000197191	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224744
Clinvar_Rec_12705	rs143654104	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000219776	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs143654104
Clinvar_Rec_12706	rs1060501935	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000476433	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060501935
Clinvar_Rec_12707	rs1060501935	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000571518	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1060501935
Clinvar_Rec_12708	rs876660160	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000223038	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660160
Clinvar_Rec_12709	rs1554098250	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	RCV000567846;RCV000781782	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;613078;ORPHA240760	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554098250
Clinvar_Rec_12710	rs876660039	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000214856	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660039
Clinvar_Rec_12711	rs876659781	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569375	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659781
Clinvar_Rec_12712	rs876659781	Likely benign	Hereditary cancer-predisposing syndrome	RCV000221303	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659781
Clinvar_Rec_12713	rs1554098253	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000632200	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098253
Clinvar_Rec_12714	rs562153754	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000167484	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs562153754
Clinvar_Rec_12715	rs780230934	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000564244	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs780230934
Clinvar_Rec_12716	rs786203655	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000167058	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203655
Clinvar_Rec_12717	rs786203655	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000167224	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203655
Clinvar_Rec_12718	rs199867309	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000550668	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs199867309
Clinvar_Rec_12719	rs1554098258	Likely benign	Hereditary cancer-predisposing syndrome	RCV000564243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098258
Clinvar_Rec_12720	rs200943808	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000567457;RCV000976268	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200943808
Clinvar_Rec_12721	rs1554098262	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000561243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098262
Clinvar_Rec_12722	rs55653181	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000199031	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs55653181
Clinvar_Rec_12723	rs1060501946	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000468970	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060501946
Clinvar_Rec_12724	rs1554098332	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572964	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098332
Clinvar_Rec_12725	rs1554098333	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000632202	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554098333
Clinvar_Rec_12726	rs876659134	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000216023	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659134
Clinvar_Rec_12727	rs876659986	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213921	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659986
Clinvar_Rec_12728	rs587782573	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000702841	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782573
Clinvar_Rec_12729	rs587782573	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000131798	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782573
Clinvar_Rec_12730	rs144186349	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000162742;RCV000859243	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144186349
Clinvar_Rec_12731	rs758803773	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000572626	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs758803773
Clinvar_Rec_12732	rs1561650090	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000698419	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1561650090
Clinvar_Rec_12733	rs1554099793	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568927	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554099793
Clinvar_Rec_12734	rs587781561	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000129581	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781561
Clinvar_Rec_12735	rs1554099872	Uncertain significance	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	RCV000566100;RCV000765809	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;613078;ORPHA240760	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554099872
Clinvar_Rec_12736	rs121912628	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000686336	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs121912628
Clinvar_Rec_12737	rs121912628	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome;Nijmegen breakage syndrome-like disorder	RCV000575384;RCV000006230	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;613078;ORPHA240760	criteria provided, multiple submitters, no conflicts	tagSNP	rs121912628
Clinvar_Rec_12738	rs864622571	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000205028	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs864622571
Clinvar_Rec_12739	rs1254356173	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000551885	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1254356173
Clinvar_Rec_12740	rs20541	risk factor	Allergic rhinitis, susceptibility to;Asthma, susceptibility to	RCV000015786;RCV000015785	na;MedGen;OMIM	C1869116;600807	no assertion criteria provided	tagSNP	rs20541
Clinvar_Rec_12741	rs121909210	Pathogenic	Lattice corneal dystrophy Type I	RCV000008317	MedGen;OMIM;Orphanet;SNOMED CT	C1690006;122200;ORPHA98964;419197009	no assertion criteria provided	tagSNP	rs121909210
Clinvar_Rec_12742	rs121909210	Pathogenic	Groenouw corneal dystrophy type I	RCV000008322	MedGen;OMIM;Orphanet;SNOMED CT	C1641846;121900;ORPHA98962;419039007	no assertion criteria provided	tagSNP	rs121909210
Clinvar_Rec_12743	rs121909208	Pathogenic	Groenouw corneal dystrophy type I	RCV000008315	MedGen;OMIM;Orphanet;SNOMED CT	C1641846;121900;ORPHA98962;419039007	no assertion criteria provided	tagSNP	rs121909208
Clinvar_Rec_12744	rs17169782	Likely benign	Corneal Dystrophy, Dominant	RCV000344734	MedGen	CN239349	criteria provided, single submitter	tagSNP	rs17169782
Clinvar_Rec_12745	rs199469647	Pathogenic	Pseudohypoaldosteronism type 2A	RCV000128500	MedGen;OMIM;Orphanet;SNOMED CT	C1840389;145260;ORPHA88938;703254001	no assertion criteria provided	tagSNP	rs199469647
Clinvar_Rec_12746	rs199469638	Pathogenic	Pseudohypoaldosteronism type 2A;Pseudohypoaldosteronism type 2D	RCV000128514;RCV000023476	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C1840389;145260;ORPHA88938;703254001;MedGen;614495;ORPHA300525	no assertion criteria provided	tagSNP	rs199469638
Clinvar_Rec_12747	rs555861358	Likely benign	Hereditary cancer-predisposing syndrome	RCV000208971	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	no assertion criteria provided	tagSNP	rs555861358
Clinvar_Rec_12748	rs3088052	Benign	Marinesco-Sjögren syndrome;not provided;not specified	RCV000270107;RCV000710220;RCV000082151	MedGen;OMIM;Orphanet;SNOMED CT	C0024814;248800;ORPHA559;80734006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3088052
Clinvar_Rec_12749	rs779721416	Uncertain significance	Distal myopathy	RCV000352240	MedGen;Orphanet	C0751336;ORPHA599	criteria provided, single submitter	tagSNP	rs779721416
Clinvar_Rec_12750	rs746588443	Uncertain significance	Retinitis pigmentosa-deafness syndrome	RCV000370190	MedGen;OMIM;SNOMED CT	CN033130;500004;57838006	criteria provided, single submitter	tagSNP	rs746588443
Clinvar_Rec_12751	rs11575954	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000336785	MedGen	CN239440	criteria provided, single submitter	LD derived	rs539203577
Clinvar_Rec_12752	rs11575954	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not specified	RCV000279906;RCV000150408	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	LD derived	rs555848272
Clinvar_Rec_12753	rs190214323	Uncertain significance	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000695410;RCV000695410	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	LD derived	rs200688040
Clinvar_Rec_12754	rs11575965	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000336785	MedGen	CN239440	criteria provided, single submitter	LD derived	rs539203577
Clinvar_Rec_12755	rs11575965	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not specified	RCV000279906;RCV000150408	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	LD derived	rs555848272
Clinvar_Rec_12756	rs148956181	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000336785	MedGen	CN239440	criteria provided, single submitter	LD derived	rs539203577
Clinvar_Rec_12757	rs148956181	Conflicting interpretations of pathogenicity	Nonsyndromic Hearing Loss, Mixed;not specified	RCV000279906;RCV000150408	MedGen	CN239440;MedGen	criteria provided, conflicting interpretations	LD derived	rs555848272
Clinvar_Rec_12758	rs143130431	Likely benign	Nonsyndromic Hearing Loss, Mixed	RCV000267697	MedGen	CN239440	criteria provided, single submitter	LD derived	rs554410556
Clinvar_Rec_12759	rs142402193	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000402540	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs142402193
Clinvar_Rec_12760	rs527786719	Likely benign	Nonsyndromic Hearing Loss, Mixed	RCV000314582	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs527786719
Clinvar_Rec_12761	rs566532178	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000400731	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs566532178
Clinvar_Rec_12762	rs766731479	Uncertain significance	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000699939;RCV000699939	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	tagSNP	rs766731479
Clinvar_Rec_12763	rs748386464	Likely benign	Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome	RCV000652775;RCV000652775	MedGen;OMIM;Orphanet;OMIM;Orphanet	C1852282;124900;ORPHA494444;MedGen;616632;ORPHA477814	criteria provided, single submitter	tagSNP	rs748386464
Clinvar_Rec_12764	rs149975083	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000404483;RCV000895719;RCV000221384	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149975083
Clinvar_Rec_12765	rs758747211	Uncertain significance	Netherton syndrome	RCV000634464	MedGen;OMIM;Orphanet	C0265962;256500;ORPHA634	criteria provided, single submitter	tagSNP	rs758747211
Clinvar_Rec_12766	rs532926901	Uncertain significance	Charcot-Marie-Tooth disease type 4;not provided	RCV000695202;RCV000236615	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs151317042
Clinvar_Rec_12767	rs532926901	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000695205	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	LD derived	rs138429238
Clinvar_Rec_12768	rs1472880531	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000654227	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1472880531
Clinvar_Rec_12769	rs193067884	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease type 4;Mononeuropathy of the Median Nerve;not provided;not specified	RCV000539504;RCV000385876;RCV000857973;RCV000438125	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs193067884
Clinvar_Rec_12770	rs193067884	Uncertain significance	Charcot-Marie-Tooth disease type 4;Mononeuropathy of the Median Nerve	RCV000326010;RCV000385241	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, single submitter	LD derived	rs188143654
Clinvar_Rec_12771	rs763331671	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000701971	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs763331671
Clinvar_Rec_12772	rs530824367	Uncertain significance	Charcot-Marie-Tooth disease type 4;not provided	RCV000802982;RCV000762174	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs530824367
Clinvar_Rec_12773	rs1561765509	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000693980	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1561765509
Clinvar_Rec_12774	rs147633804	Uncertain significance	Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease, type 4C;Mononeuropathy of the median nerve, mild;not provided	RCV000457307;RCV000765821;RCV000765821;RCV000992973	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C4082197;ORPHA64749;715795005;MedGen;601596;ORPHA99949;MedGen;613353;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147633804
Clinvar_Rec_12775	rs147010346	Uncertain significance	Retinal dystrophy;Retinitis Pigmentosa, Recessive;not provided	RCV000225533;RCV000407618;RCV000262570	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147010346
Clinvar_Rec_12776	rs886060243	Uncertain significance	Achondrogenesis;Atelosteogenesis;Diastrophic dysplasia;Osteochondrodysplasia	RCV000401627;RCV000310845;RCV000344804;RCV000365563	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0001079;ORPHA932;MedGen;43814000;MedGen;222600;ORPHA628;58561002;MedGen	criteria provided, single submitter	tagSNP	rs886060243
Clinvar_Rec_12777	rs1060499540	Pathogenic	Infantile myofibromatosis	RCV000454369	MedGen;Orphanet;SNOMED CT	C0432284;ORPHA2591;254146000	criteria provided, single submitter	tagSNP	rs1060499540
Clinvar_Rec_12778	rs587776584	Pathogenic	Treacher Collins syndrome 1	RCV000004173	MedGen;OMIM	CN119605;154500	no assertion criteria provided	tagSNP	rs587776584
Clinvar_Rec_12779	rs1554137531	Pathogenic	Treacher Collins syndrome 1;not provided	RCV000553951;RCV001008035	MedGen;OMIM	CN119605;154500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554137531
Clinvar_Rec_12780	rs772987244	Uncertain significance	Treacher Collins Syndrome, Dominant	RCV000317053	MedGen	CN239287	criteria provided, single submitter	tagSNP	rs772987244
Clinvar_Rec_12781	rs11743855	Benign/Likely benign	Treacher Collins Syndrome, Dominant;not specified	RCV000302155;RCV000118613	MedGen	CN239287;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11743855
Clinvar_Rec_12782	rs11743855	Benign/Likely benign	Treacher Collins Syndrome, Dominant;not specified	RCV000351103;RCV000118605	MedGen	CN239287;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs7701163
Clinvar_Rec_12783	rs770518416	Uncertain significance	Tay-Sachs disease, variant AB	RCV000404785	MedGen;OMIM;Orphanet;SNOMED CT	C0268275;272750;ORPHA309246;71253000	criteria provided, single submitter	tagSNP	rs770518416
Clinvar_Rec_12784	rs199561280	Conflicting interpretations of pathogenicity	Hyperekplexia;Hyperekplexia 1	RCV000363497;RCV000560505	MedGen;Orphanet;OMIM;Orphanet	C0234166;ORPHA306773;MedGen;149400;ORPHA3197	criteria provided, conflicting interpretations	tagSNP	rs199561280
Clinvar_Rec_12785	rs375159661	Uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F;Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L;not provided;not specified	RCV000671185;RCV001060433;RCV000671185;RCV000726160;RCV000036264	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM	C1832525;601287;ORPHA219;MedGen;601287;ORPHA219;MedGen;606685;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375159661
Clinvar_Rec_12786	rs886060298	Uncertain significance	Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive;Qualitative or quantitative defects of delta-sarcoglycan	RCV000375499;RCV000281162;RCV000348825	MedGen;Orphanet	CN239310;MedGen;ORPHA207070	criteria provided, single submitter	tagSNP	rs886060298
Clinvar_Rec_12787	rs534229766	Uncertain significance	Lymphoproliferative syndrome;Lymphoproliferative syndrome 1	RCV000321676;RCV000801808	MedGen;Orphanet;OMIM;Orphanet	CN228424;ORPHA238510;MedGen;613011;ORPHA538963	criteria provided, multiple submitters, no conflicts	tagSNP	rs534229766
Clinvar_Rec_12788	rs369078550	Uncertain significance	Lymphoproliferative syndrome	RCV000320165	MedGen;Orphanet	CN228424;ORPHA238510	criteria provided, single submitter	tagSNP	rs369078550
Clinvar_Rec_12789	rs886060330	Uncertain significance	Lymphoproliferative syndrome	RCV000334495	MedGen;Orphanet	CN228424;ORPHA238510	criteria provided, single submitter	tagSNP	rs886060330
Clinvar_Rec_12790	rs1554108163	Likely pathogenic	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	RCV000656388	MedGen;OMIM	C4693925;618008	criteria provided, single submitter	tagSNP	rs1554108163
Clinvar_Rec_12791	rs1554108163	Likely pathogenic	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	RCV000656390	MedGen;OMIM	C4693925;618008	criteria provided, single submitter	tagSNP	rs1554108163
Clinvar_Rec_12792	rs772312298	Uncertain significance	Congenital ichthyosiform erythroderma	RCV000330625	Human Phenotype Ontology;MedGen	HP;C0079583	criteria provided, single submitter	tagSNP	rs772312298
Clinvar_Rec_12793	rs527890421	Uncertain significance	Juvenile myoclonic epilepsy	RCV000369641	MedGen;OMIM;Orphanet	C0270853;254770;ORPHA307	criteria provided, single submitter	tagSNP	rs527890421
Clinvar_Rec_12794	rs1554085513	Uncertain significance	Inborn genetic diseases;Seizures	RCV000624127;RCV000717220	MeSH;MedGen;MedGen	D030342;C0950123;Human Phenotype Ontology;C0036572	criteria provided, single submitter	tagSNP	rs1554085513
Clinvar_Rec_12795	rs1219475284	Likely benign	Seizures	RCV000716902	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1219475284
Clinvar_Rec_12796	rs73316347	Likely benign	Generalized epilepsy with febrile seizures plus;Severe myoclonic epilepsy in infancy	RCV000339618;RCV000397263	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C3502809;ORPHA36387;MedGen;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs73316347
Clinvar_Rec_12797	rs118064447	Likely benign	Generalized epilepsy with febrile seizures plus;Severe myoclonic epilepsy in infancy	RCV000285790;RCV000336532	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C3502809;ORPHA36387;MedGen;607208;ORPHA33069;230437002	criteria provided, single submitter	tagSNP	rs118064447
Clinvar_Rec_12798	rs367809742	Uncertain significance	Nonsyndromic Hearing Loss, Mixed;Pendred syndrome	RCV000358373;RCV000265990	MedGen;OMIM;Orphanet;SNOMED CT	CN239440;MedGen;274600;ORPHA705;70348004	criteria provided, single submitter	tagSNP	rs367809742
Clinvar_Rec_12799	rs201272974	Likely benign	Atrial septal defect 7 with or without atrioventricular conduction defects	RCV000030335	MedGen;OMIM	C3276096;108900	criteria provided, single submitter	LD derived	rs72554029
Clinvar_Rec_12800	rs201272974	Benign/Likely benign	Atrial septal defect 7 with or without atrioventricular conduction defects;Cardiovascular phenotype;not provided;not specified	RCV000030336;RCV000617707;RCV000858224;RCV000301072	MedGen;OMIM	C3276096;108900;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72554029
Clinvar_Rec_12801	rs144257298	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000717112;RCV000082117	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144257298
Clinvar_Rec_12802	rs144257298	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Sotos syndrome 1;not provided;not specified	RCV000717116;RCV000146810;RCV000723570;RCV000082120	MedGen;OMIM	C2711754;MedGen;117550;MedGen	criteria provided, conflicting interpretations	LD derived	rs150296373
Clinvar_Rec_12803	rs144257298	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Sotos syndrome 1;not provided;not specified	RCV000717107;RCV000146878;RCV000723571;RCV000082128	MedGen;OMIM	C2711754;MedGen;117550;MedGen	criteria provided, conflicting interpretations	LD derived	rs140815139
Clinvar_Rec_12804	rs766572224	Likely benign	History of neurodevelopmental disorder	RCV000715875	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs766572224
Clinvar_Rec_12805	rs886041218	Pathogenic	Beckwith-Wiedemann syndrome;Sotos syndrome 1;not provided	RCV000461976;RCV000503418;RCV000385095	MedGen;OMIM;Orphanet;SNOMED CT;OMIM	C0004903;130650;ORPHA116;81780002;MedGen;117550;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041218
Clinvar_Rec_12806	rs1562292879	Pathogenic	Sotos syndrome 1	RCV000680053	MedGen;OMIM	C4551477;117550	criteria provided, single submitter	tagSNP	rs1562292879
Clinvar_Rec_12807	rs1554206834	Pathogenic	Beckwith-Wiedemann syndrome	RCV000628557	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs1554206834
Clinvar_Rec_12808	rs187514085	Likely benign	Sotos syndrome;Weaver syndrome	RCV000390624;RCV000313448	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	tagSNP	rs187514085
Clinvar_Rec_12809	rs531214385	Likely benign	Sotos syndrome;Weaver syndrome	RCV000259459;RCV000370499	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0175695;ORPHA821;75968004;MedGen;277590;ORPHA3447;63119004	criteria provided, single submitter	tagSNP	rs531214385
Clinvar_Rec_12810	rs28937869	Pathogenic	Ehlers-Danlos syndrome progeroid type;Lethal skeletal dysplasia;Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects;not provided	RCV000005965;RCV000779599;RCV000258718;RCV000413846	MedGen;OMIM;MedGen;OMIM;Orphanet	C4552003;130070;Human Phenotype Ontology;C4021626;MedGen;245600;ORPHA284139;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28937869
Clinvar_Rec_12811	rs146632722	Uncertain significance	Ehlers-Danlos syndrome progeroid type;not provided	RCV001066223;RCV000429366	MedGen;OMIM	C4552003;130070;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146632722
Clinvar_Rec_12812	rs121917839	Likely pathogenic	Pituitary hormone deficiency, combined 2	RCV000008563	MedGen;OMIM	C0878683;262600	criteria provided, single submitter	tagSNP	rs121917839
Clinvar_Rec_12813	rs886060500	Uncertain significance	Ehlers-Danlos syndrome dermatosparaxis type	RCV000310586	MedGen;OMIM;Orphanet;SNOMED CT	C2700425;225410;ORPHA1901;55711009	criteria provided, single submitter	tagSNP	rs886060500
Clinvar_Rec_12814	rs730012	drug response	aspirin response - Toxicity/ADR	RCV000211358	MedGen	CN236482	reviewed by expert panel	tagSNP	rs730012
Clinvar_Rec_12815	rs9282593	Uncertain significance	Alpha-methylacyl-CoA racemase deficiency;not provided	RCV000765839;RCV000591090	MedGen;OMIM;Orphanet	C3280428;614307;ORPHA79095;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs9282593
Clinvar_Rec_12816	rs3195678	Benign/Likely benign	Alpha-methylacyl-CoA racemase deficiency;not provided;not specified	RCV000364524;RCV000224095;RCV000423128	MedGen;OMIM;Orphanet	C3280428;614307;ORPHA79095;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3195678
Clinvar_Rec_12817	rs886060546	Uncertain significance	Episodic ataxia	RCV000262018	Human Phenotype Ontology;MedGen;Orphanet	HP;C1720189;ORPHA211062	criteria provided, single submitter	tagSNP	rs886060546
Clinvar_Rec_12818	rs587783879	Pathogenic	Cornelia de Lange syndrome 1	RCV000146512	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs587783879
Clinvar_Rec_12819	rs587783880	Pathogenic	Cornelia de Lange syndrome 1	RCV000146513	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs587783880
Clinvar_Rec_12820	rs1554017441	Pathogenic	Cornelia de Lange syndrome 1	RCV000553774	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs1554017441
Clinvar_Rec_12821	rs797045762	Pathogenic	Cornelia de Lange syndrome 1	RCV000192461	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs797045762
Clinvar_Rec_12822	rs1561196903	Likely benign	History of neurodevelopmental disorder;not provided	RCV000719121;RCV000914595	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1561196903
Clinvar_Rec_12823	rs1554030285	Pathogenic	Cornelia de Lange syndrome 1	RCV000556866	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs1554030285
Clinvar_Rec_12824	rs398124474	Pathogenic	Cornelia de Lange syndrome 1;not provided	RCV000146743;RCV000790740	MedGen;OMIM	C4551851;122470;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398124474
Clinvar_Rec_12825	rs761880579	Uncertain significance	Joubert syndrome	RCV000378615	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs761880579
Clinvar_Rec_12826	rs863225155	Pathogenic/Likely pathogenic	Joubert syndrome 17;not provided	RCV000201751;RCV000432168	MedGen;OMIM	C3553264;614615;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863225155
Clinvar_Rec_12827	rs730882217	Pathogenic	Global developmental delay;Joubert syndrome 17;Typical Joubert syndrome MRI findings;not provided	RCV000162127;RCV000201763;RCV000162127;RCV000375310	Human Phenotype Ontology;MedGen;OMIM	HP;C0557874;MedGen;614615;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs730882217
Clinvar_Rec_12828	rs1561531833	Uncertain significance	Joubert syndrome 17	RCV000778767	MedGen;OMIM	C3553264;614615	criteria provided, single submitter	tagSNP	rs1561531833
Clinvar_Rec_12829	rs1228082731	Pathogenic	Joubert syndrome 17	RCV000691982	MedGen;OMIM	C3553264;614615	criteria provided, single submitter	tagSNP	rs1228082731
Clinvar_Rec_12830	rs1554020079	Uncertain significance	Hirschsprung disease 1	RCV000508620	MedGen;OMIM	C3888239;142623	no assertion criteria provided	tagSNP	rs1554020079
Clinvar_Rec_12831	rs55892837	Uncertain significance	Stüve-Wiedemann syndrome	RCV000261179	MedGen;OMIM;Orphanet	C0796176;601559;ORPHA3206	criteria provided, single submitter	tagSNP	rs55892837
Clinvar_Rec_12832	rs1060499692	Likely pathogenic	Laron-type isolated somatotropin defect	RCV000449581	MedGen;OMIM;Orphanet;SNOMED CT	C0271568;262500;ORPHA633;38196001	no assertion criteria provided	tagSNP	rs1060499692
Clinvar_Rec_12833	rs886037910	Pathogenic	Short stature, idiopathic, autosomal	RCV000240723	MedGen;OMIM;Orphanet	C1858656;604271;ORPHA314802	no assertion criteria provided	tagSNP	rs886037910
Clinvar_Rec_12834	rs886060651	Uncertain significance	Laron-type isolated somatotropin defect	RCV000289730	MedGen;OMIM;Orphanet;SNOMED CT	C0271568;262500;ORPHA633;38196001	criteria provided, single submitter	tagSNP	rs886060651
Clinvar_Rec_12835	rs864309519	Pathogenic	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	RCV000202606	MedGen;OMIM	C3553587;614736	criteria provided, single submitter	tagSNP	rs864309519
Clinvar_Rec_12836	rs104893885	Pathogenic	Levy-Hollister syndrome	RCV000007966	MedGen;OMIM;Orphanet;SNOMED CT	C0265269;149730;ORPHA2363;23817003	no assertion criteria provided	tagSNP	rs104893885
Clinvar_Rec_12837	rs187312994	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717093;RCV000555759	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs188586020
Clinvar_Rec_12838	rs187312994	Uncertain significance	Early infantile epileptic encephalopathy	RCV000538466	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	LD derived	rs188586020
Clinvar_Rec_12839	rs1335934380	Uncertain significance	Early infantile epileptic encephalopathy	RCV000636396	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1335934380
Clinvar_Rec_12840	rs118190231	Likely benign	Platelet-type bleeding disorder 9	RCV000272876	MedGen;OMIM;Orphanet	C3280114;614200;ORPHA98886	criteria provided, single submitter	tagSNP	rs118190231
Clinvar_Rec_12841	rs543100435	Likely benign	Platelet-type bleeding disorder 9	RCV000283776	MedGen;OMIM;Orphanet	C3280114;614200;ORPHA98886	criteria provided, single submitter	tagSNP	rs543100435
Clinvar_Rec_12842	rs570965140	Likely benign	Platelet-type bleeding disorder 9	RCV000329069	MedGen;OMIM;Orphanet	C3280114;614200;ORPHA98886	criteria provided, single submitter	tagSNP	rs570965140
Clinvar_Rec_12843	rs3839261	Benign/Likely benign	Combined molybdoflavoprotein enzyme deficiency;Platelet-type bleeding disorder 9	RCV000267699;RCV000388960	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0268119;ORPHA99732;29692004;MedGen;614200;ORPHA98886	criteria provided, single submitter	tagSNP	rs3839261
Clinvar_Rec_12844	rs1554035648	Uncertain significance	Inborn genetic diseases	RCV000622801	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554035648
Clinvar_Rec_12845	rs557226166	Uncertain significance	Acrodysostosis	RCV000385859	MedGen;Orphanet;SNOMED CT	C0220659;ORPHA950;66758006	criteria provided, single submitter	tagSNP	rs557226166
Clinvar_Rec_12846	rs1554033934	Conflicting interpretations of pathogenicity	Acrodysostosis 2, with or without hormone resistance;not provided	RCV000504451;RCV000585454	MedGen;OMIM	C3553250;614613;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1554033934
Clinvar_Rec_12847	rs758929943	Uncertain significance	Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome	RCV000697337;RCV000697337;RCV000697337	MedGen;OMIM;OMIM;OMIM;Orphanet	C3554689;615214;MedGen;616005;MedGen;269880;ORPHA3163	criteria provided, single submitter	tagSNP	rs758929943
Clinvar_Rec_12848	rs771949848	not provided	Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome	RCV000709969;RCV000709969;RCV000709969	MedGen;OMIM;OMIM;OMIM;Orphanet	C3554689;615214;MedGen;616005;MedGen;269880;ORPHA3163	no assertion provided	tagSNP	rs771949848
Clinvar_Rec_12849	rs1057519841	Likely pathogenic	Malignant melanoma of skin;Malignant neoplasm of body of uterus;Neoplasm;Neoplasm of brain;Neoplasm of the large intestine	RCV000434835;RCV000421102;RCV000434688;RCV000444300;RCV000431985	MeSH;MedGen;SNOMED CT;Orphanet;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT	C562393;C0151779;93655004;MedGen;ORPHA213569;Human Phenotype Ontology;D009369;C0027651;108369006;Human Phenotype Ontology;D001932;C0006118;126952004;Human Phenotype Ontology;D015179;C0009404;126837005	no assertion criteria provided	tagSNP	rs1057519841
Clinvar_Rec_12850	rs886060734	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000295194	MedGen	CN239439	criteria provided, single submitter	tagSNP	rs886060734
Clinvar_Rec_12851	rs267606926	Pathogenic	Pseudo-TORCH syndrome 1	RCV000007144	MedGen;OMIM	C4552078;251290	no assertion criteria provided	tagSNP	rs267606926
Clinvar_Rec_12852	rs1554034490	Uncertain significance	Sandhoff disease	RCV000670595	MedGen;OMIM;Orphanet;SNOMED CT	C0036161;268800;ORPHA796;23849003	criteria provided, single submitter	tagSNP	rs1554034490
Clinvar_Rec_12853	rs794727091	Pathogenic/Likely pathogenic	Sandhoff disease;not provided	RCV000174488;RCV000724463	MedGen;OMIM;Orphanet;SNOMED CT	C0036161;268800;ORPHA796;23849003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727091
Clinvar_Rec_12854	rs771296632	Pathogenic	Mucopolysaccharidosis type 6	RCV000677463	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs771296632
Clinvar_Rec_12855	rs1554086414	Likely pathogenic	Mucopolysaccharidosis type 6	RCV000677595	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554086414
Clinvar_Rec_12856	rs1554032113	Uncertain significance	Mucopolysaccharidosis type 6	RCV000677532	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554032113
Clinvar_Rec_12857	rs1554032118	Likely pathogenic	Mucopolysaccharidosis type 6	RCV000677529	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554032118
Clinvar_Rec_12858	rs750947605	Uncertain significance	Mucopolysaccharidosis type 6	RCV000677530	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs750947605
Clinvar_Rec_12859	rs1554032129	Likely pathogenic	Mucopolysaccharidosis type 6	RCV000677526	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554032129
Clinvar_Rec_12860	rs1554032134	Likely pathogenic	Mucopolysaccharidosis type 6	RCV000677520	MedGen;OMIM;Orphanet	C0026709;253200;ORPHA583	criteria provided, single submitter	tagSNP	rs1554032134
Clinvar_Rec_12861	rs1561197425	Likely pathogenic	Metachromatic leukodystrophy	RCV000779749	MedGen;OMIM;Orphanet;SNOMED CT	C0023522;250100;ORPHA512;396338004	criteria provided, single submitter	tagSNP	rs1561197425
Clinvar_Rec_12862	rs61754532	Likely benign	Vitreoretinopathy;Wagner syndrome	RCV000334422;RCV000281765	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001	criteria provided, single submitter	tagSNP	rs61754532
Clinvar_Rec_12863	rs160278	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000272515;RCV000327636;RCV000180249	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs160278
Clinvar_Rec_12864	rs160278	Conflicting interpretations of pathogenicity	Vitreoretinopathy;Wagner syndrome;not provided	RCV000333214;RCV000273472;RCV000180252	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs160278
Clinvar_Rec_12865	rs160278	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000328381;RCV000288593;RCV000154116	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs309559
Clinvar_Rec_12866	rs160278	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000381744;RCV000286138;RCV000154120	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs309557
Clinvar_Rec_12867	rs160278	Benign	Vitreoretinopathy;Wagner syndrome;not specified	RCV000302059;RCV000338406;RCV000180248	Human Phenotype Ontology;MedGen;Orphanet;OMIM;SNOMED CT	HP;C1850109;ORPHA98668;MedGen;143200;232064001;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs160279
Clinvar_Rec_12868	rs747852567	Uncertain significance	Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	RCV000308313	MedGen	CN239216	criteria provided, single submitter	tagSNP	rs747852567
Clinvar_Rec_12869	rs376401006	Conflicting interpretations of pathogenicity	Febrile seizures, familial, 4;Usher syndrome, type 2C;not provided	RCV000764617;RCV000764617;RCV000302563	MedGen;OMIM;OMIM	C1858493;604352;MedGen;605472;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376401006
Clinvar_Rec_12870	rs376401006	Conflicting interpretations of pathogenicity	Febrile seizures, familial, 4;Usher syndrome, type 2C;not provided	RCV000765847;RCV000765847;RCV000394411	MedGen;OMIM;OMIM	C1858493;604352;MedGen;605472;MedGen	criteria provided, conflicting interpretations	LD derived	rs199833843
Clinvar_Rec_12871	rs1561790371	Likely pathogenic	Usher syndrome, type 2C	RCV000770810	MedGen;OMIM	C2931213;605472	no assertion criteria provided	tagSNP	rs1561790371
Clinvar_Rec_12872	rs863224903	Likely pathogenic	Bosch-Boonstra-Schaaf optic atrophy syndrome	RCV000200428	MedGen;OMIM;Orphanet	C3810363;615722;ORPHA401777	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224903
Clinvar_Rec_12873	rs886060877	Uncertain significance	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000270498;RCV000369701	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	tagSNP	rs886060877
Clinvar_Rec_12874	rs772439505	Uncertain significance	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000294746;RCV000351954	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	tagSNP	rs772439505
Clinvar_Rec_12875	rs34572181	Likely benign	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000406522;RCV000307625	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	tagSNP	rs34572181
Clinvar_Rec_12876	rs34572181	Likely benign	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000342580;RCV000405998	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	LD derived	rs2882298
Clinvar_Rec_12877	rs34572181	Likely benign	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000374499;RCV000282367	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	LD derived	rs17085675
Clinvar_Rec_12878	rs34572181	Likely benign	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000345988;RCV000395546	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	LD derived	rs5869716
Clinvar_Rec_12879	rs528762926	Uncertain significance	Monogenic Non-Syndromic Obesity;Proprotein convertase 1/3 deficiency	RCV000299659;RCV000368351	MedGen;OMIM;Orphanet	CN239457;MedGen;600955;ORPHA71528	criteria provided, single submitter	LD derived	rs558370034
Clinvar_Rec_12880	rs863224939	Likely pathogenic	Cortical dysplasia, complex, with other brain malformations 5	RCV000195901	MedGen;OMIM	C3810407;615763	criteria provided, single submitter	tagSNP	rs863224939
Clinvar_Rec_12881	rs3024463	Likely benign	Factor XIII subunit A deficiency	RCV000400707	Human Phenotype Ontology;MedGen;OMIM	HP;C2750514;613225	criteria provided, single submitter	tagSNP	rs3024463
Clinvar_Rec_12882	rs1554106503	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000538707;RCV000538707	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1554106503
Clinvar_Rec_12883	rs890837021	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000469715;RCV000469715	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs890837021
Clinvar_Rec_12884	rs869025391	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;Dilated cardiomyopathy with woolly hair and keratoderma;Keratosis palmoplantaris striata II;Primary dilated cardiomyopathy;Skin fragility-woolly hair-palmoplantar keratoderma syndrome	RCV000764659;RCV000764659;RCV000764659;RCV000764659;RCV000208448;RCV000764659	MedGen;OMIM;OMIM;OMIM;Orphanet;OMIM;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1843896;607450;MedGen;615821;MedGen;605676;ORPHA65282;MedGen;612908;EFO;HP;C0007193;ORPHA217604;195021004;MedGen;607655;ORPHA293165	criteria provided, multiple submitters, no conflicts	tagSNP	rs869025391
Clinvar_Rec_12885	rs142429411	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided;not specified	RCV000238965;RCV000769221;RCV000242786;RCV000372307;RCV000263694;RCV000590388;RCV000038010	MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142429411
Clinvar_Rec_12886	rs727505260	Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy	RCV000156783	MedGen;Orphanet;SNOMED CT;SNOMED CT	C0349788;ORPHA247;253528005;281170005	criteria provided, single submitter	tagSNP	rs727505260
Clinvar_Rec_12887	rs1561696970	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000694252;RCV000694252	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561696970
Clinvar_Rec_12888	rs397516939	Uncertain significance	Cardiovascular phenotype;not specified	RCV000617801;RCV000038048	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516939
Clinvar_Rec_12889	rs754783192	Likely benign	Cardiomyopathy	RCV000770247	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs754783192
Clinvar_Rec_12890	rs28763967	Benign/Likely benign	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome;Cardiomyopathy;Cardiovascular phenotype;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;Sudden unexplained death;not provided;not specified	RCV000331603;RCV000584761;RCV000852996;RCV000852996;RCV000776035;RCV000621921;RCV000344492;RCV000388441;RCV000584761;RCV000434359;RCV000038052	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA247;253528005;281170005;MedGen;ORPHA247;253528005;281170005;MedGen;ORPHA130;418818005;Human Phenotype Ontology;C0878544;ORPHA167848;85898001;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28763967
Clinvar_Rec_12891	rs1394590334	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000688271;RCV000688271	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1394590334
Clinvar_Rec_12892	rs1561701766	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000691401;RCV000691401	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs1561701766
Clinvar_Rec_12893	rs370093129	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000687646;RCV000687646	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, single submitter	tagSNP	rs370093129
Clinvar_Rec_12894	rs370093129	Uncertain significance	Cardiomyopathy;not specified	RCV000769236;RCV000781334	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs370093129
Clinvar_Rec_12895	rs571893658	Likely benign	Polycystic liver disease 1	RCV000285297	MedGen;OMIM	C0887850;174050	criteria provided, single submitter	tagSNP	rs571893658
Clinvar_Rec_12896	rs113263335	Benign	Osteopetrosis	RCV000316918	Human Phenotype Ontology;MedGen;Orphanet	HP;C0029454;ORPHA2781	criteria provided, single submitter	tagSNP	rs113263335
Clinvar_Rec_12897	rs756539176	Likely benign	Charcot-Marie-Tooth disease type 4	RCV000549133	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs756539176
Clinvar_Rec_12898	rs149609367	Conflicting interpretations of pathogenicity	Progressive pseudorheumatoid dysplasia;not provided;not specified	RCV000301408;RCV000954665;RCV000728169	MedGen;OMIM;Orphanet;SNOMED CT	C0432215;208230;ORPHA1159;254065005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149609367
Clinvar_Rec_12899	rs149609367	Conflicting interpretations of pathogenicity	Progressive pseudorheumatoid dysplasia;not provided;not specified	RCV000261293;RCV000954666;RCV000728168	MedGen;OMIM;Orphanet;SNOMED CT	C0432215;208230;ORPHA1159;254065005;MedGen	criteria provided, conflicting interpretations	LD derived	rs145590972
Clinvar_Rec_12900	rs782424587	Uncertain significance	Cardiomyopathy	RCV000770210	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, multiple submitters, no conflicts	tagSNP	rs782424587
Clinvar_Rec_12901	rs374481199	Benign/Likely benign	Cardiomyopathy;Dilated cardiomyopathy 1JJ;not provided;not specified	RCV000770216;RCV001001266;RCV000464999;RCV000200718	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0878544;ORPHA167848;85898001;MedGen;615235;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374481199
Clinvar_Rec_12902	rs782568868	Uncertain significance	Cardiomyopathy	RCV000770221	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs782568868
Clinvar_Rec_12903	rs1554344450	Likely benign	Cardiovascular phenotype	RCV000620306	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554344450
Clinvar_Rec_12904	rs1554349049	Uncertain significance	Dilated cardiomyopathy 1JJ	RCV000651442	MedGen;OMIM	C3808935;615235	criteria provided, single submitter	tagSNP	rs1554349049
Clinvar_Rec_12905	rs572738023	Uncertain significance	Metaphyseal chondrodysplasia	RCV000388560	Human Phenotype Ontology;MedGen	HP;CN005173	criteria provided, single submitter	tagSNP	rs572738023
Clinvar_Rec_12906	rs113957513	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000333226;RCV000858016;RCV000079362	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	LD derived	rs112350099
Clinvar_Rec_12907	rs727504884	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not specified	RCV000275826;RCV000156259	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs727504884
Clinvar_Rec_12908	rs1554247978	Pathogenic	Primary ciliary dyskinesia	RCV000629364	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1554247978
Clinvar_Rec_12909	rs1304157111	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000685916	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs1304157111
Clinvar_Rec_12910	rs749401047	Uncertain significance	Catecholaminergic polymorphic ventricular tachycardia	RCV000558509	MedGen;Orphanet	C1631597;ORPHA3286	criteria provided, single submitter	tagSNP	rs749401047
Clinvar_Rec_12911	rs398123371	Pathogenic/Likely pathogenic	Merosin deficient congenital muscular dystrophy;not provided	RCV000176160;RCV000790837	MedGen;OMIM;Orphanet;SNOMED CT	C1263858;607855;ORPHA258;111503008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs398123371
Clinvar_Rec_12912	rs1288474892	Uncertain significance	Laminin alpha 2-related dystrophy	RCV000704196	MedGen	CN117977	criteria provided, single submitter	tagSNP	rs1288474892
Clinvar_Rec_12913	rs145420388	Pathogenic	Laminin alpha 2-related dystrophy;Merosin deficient congenital muscular dystrophy	RCV000685584;RCV000666604	MedGen;OMIM;Orphanet;SNOMED CT	CN117977;MedGen;607855;ORPHA258;111503008	criteria provided, multiple submitters, no conflicts	tagSNP	rs145420388
Clinvar_Rec_12914	rs373997222	Conflicting interpretations of pathogenicity	Congenital Muscular Dystrophy, LAMA2-related;not provided	RCV000364458;RCV000654755	MedGen	CN239326;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373997222
Clinvar_Rec_12915	rs758775001	Pathogenic	Laminin alpha 2-related dystrophy;MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23;Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy;not provided	RCV000530826;RCV000763554;RCV000328095;RCV000763554;RCV000726090	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN117977;MedGen;618138;MedGen;607855;ORPHA258;111503008;MedGen;607855;ORPHA258;111503008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758775001
Clinvar_Rec_12916	rs374201203	Uncertain significance	Congenital Muscular Dystrophy, LAMA2-related;Polymicrogyria	RCV000382091;RCV000656109	MedGen;MedGen;Orphanet	CN239326;Human Phenotype Ontology;C0266464;ORPHA35981	criteria provided, multiple submitters, no conflicts	tagSNP	rs374201203
Clinvar_Rec_12917	rs374201203	Uncertain significance	Laminin alpha 2-related dystrophy	RCV000556848	MedGen	CN117977	criteria provided, single submitter	LD derived	rs539321303
Clinvar_Rec_12918	rs767066183	Uncertain significance	Merosin deficient congenital muscular dystrophy	RCV000670517	MedGen;OMIM;Orphanet;SNOMED CT	C1263858;607855;ORPHA258;111503008	criteria provided, single submitter	tagSNP	rs767066183
Clinvar_Rec_12919	rs1554305937	Pathogenic	Laminin alpha 2-related dystrophy	RCV000560143	MedGen	CN117977	criteria provided, single submitter	tagSNP	rs1554305937
Clinvar_Rec_12920	rs1554305958	Uncertain significance	Laminin alpha 2-related dystrophy	RCV000544403	MedGen	CN117977	criteria provided, single submitter	tagSNP	rs1554305958
Clinvar_Rec_12921	rs1554251136	Uncertain significance	Arginase deficiency	RCV000672844	MedGen;OMIM;Orphanet;SNOMED CT	C0268548;207800;ORPHA90;23501004	criteria provided, single submitter	tagSNP	rs1554251136
Clinvar_Rec_12922	rs1562360814	Uncertain significance	Arginase deficiency	RCV000692884	MedGen;OMIM;Orphanet;SNOMED CT	C0268548;207800;ORPHA90;23501004	criteria provided, single submitter	tagSNP	rs1562360814
Clinvar_Rec_12923	rs866970619	Uncertain significance	Arginase deficiency	RCV000667699	MedGen;OMIM;Orphanet;SNOMED CT	C0268548;207800;ORPHA90;23501004	criteria provided, single submitter	tagSNP	rs866970619
Clinvar_Rec_12924	rs866970619	Uncertain significance	Arginase deficiency	RCV000664784	MedGen;OMIM;Orphanet;SNOMED CT	C0268548;207800;ORPHA90;23501004	criteria provided, single submitter	tagSNP	rs866970619
Clinvar_Rec_12925	rs1044498	Benign	Arterial calcification, generalized, of infancy, 1;Diabetes mellitus type 2;Hypophosphatemic Rickets, Recessive;Insulin resistance, susceptibility to;Obesity;not specified	RCV000355961;RCV000014559;RCV000265863;RCV000014558;RCV000033192;RCV000178259	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;SNOMED CT	C4551985;208000;Human Phenotype Ontology;C0011860;125853;ORPHA181376;44054006;MedGen;D009765;C0028754;601665;414916001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1044498
Clinvar_Rec_12926	rs78081370	Likely benign	Dilated Cardiomyopathy, Dominant;Nonsyndromic Hearing Loss, Dominant	RCV000341578;RCV000307043	MedGen	CN239310;MedGen	criteria provided, single submitter	tagSNP	rs78081370
Clinvar_Rec_12927	rs1562498114	Pathogenic	Dilated cardiomyopathy 1J	RCV000693904	MedGen;OMIM;Orphanet	C1854368;605362;ORPHA217622	criteria provided, single submitter	tagSNP	rs1562498114
Clinvar_Rec_12928	rs773278338	Likely pathogenic	Retinitis pigmentosa	RCV000504625	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs773278338
Clinvar_Rec_12929	rs138688804	Uncertain significance	Familial hemophagocytic lymphohistiocytosis	RCV000343536	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003	criteria provided, single submitter	LD derived	rs564603726
Clinvar_Rec_12930	rs760492745	Uncertain significance	Familial hemophagocytic lymphohistiocytosis	RCV000269130	MedGen;Orphanet;Orphanet;SNOMED CT	C0272199;ORPHA158038;ORPHA540;398250003	criteria provided, multiple submitters, no conflicts	tagSNP	rs760492745
Clinvar_Rec_12931	rs144204777	Uncertain significance	Progressive myoclonic epilepsy	RCV000687512	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs144204777
Clinvar_Rec_12932	rs747386643	Uncertain significance	Progressive myoclonic epilepsy;not provided	RCV000696730;RCV000187399	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747386643
Clinvar_Rec_12933	rs149332702	Benign/Likely benign	Seizures;not provided;not specified	RCV000716194;RCV000533238;RCV000178248	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141361861
Clinvar_Rec_12934	rs548496373	Uncertain significance	Congenital hypothyroidism	RCV000312888	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0010308;ORPHA442;190268003	criteria provided, single submitter	tagSNP	rs548496373
Clinvar_Rec_12935	rs142401065	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000703538;RCV000703538	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	LD derived	rs144533000
Clinvar_Rec_12936	rs142401065	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000803439;RCV000803439;RCV000713664	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs144276162
Clinvar_Rec_12937	rs139679692	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000524861;RCV000524861;RCV000713650	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139679692
Clinvar_Rec_12938	rs201497427	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided	RCV000262353;RCV000319442;RCV000713636	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201497427
Clinvar_Rec_12939	rs2147377	Benign/Likely benign	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000361971;RCV000269574;RCV000993152;RCV000118459	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2147377
Clinvar_Rec_12940	rs1189558235	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000702653;RCV000702653	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs1189558235
Clinvar_Rec_12941	rs149272010	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000283633;RCV000320028;RCV000551091;RCV000335180	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149272010
Clinvar_Rec_12942	rs774558249	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000696543;RCV000696543	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs774558249
Clinvar_Rec_12943	rs773315032	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000693308;RCV000693308;RCV000993148	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773315032
Clinvar_Rec_12944	rs757086609	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000693177;RCV000693177	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs757086609
Clinvar_Rec_12945	rs753891807	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000698989;RCV000698989	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs753891807
Clinvar_Rec_12946	rs141883764	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000807457;RCV000807457;RCV000713603	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141883764
Clinvar_Rec_12947	rs142422990	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided;not specified	RCV000360305;RCV000264553;RCV000875115;RCV000312820	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142422990
Clinvar_Rec_12948	rs138307449	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided	RCV000374415;RCV000322036;RCV000394418	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138307449
Clinvar_Rec_12949	rs139075013	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;not provided;not specified	RCV000366885;RCV000274887;RCV000714721;RCV000733162;RCV000192775	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT;OMIM	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen;612998;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139075013
Clinvar_Rec_12950	rs1563130387	Pathogenic	Spinocerebellar ataxia, autosomal recessive 8	RCV000207339	MedGen;OMIM;Orphanet	C1853116;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs1563130387
Clinvar_Rec_12951	rs746532554	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV001050190;RCV001050190;RCV000292974	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746532554
Clinvar_Rec_12952	rs756840607	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000295847;RCV000385337	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs756840607
Clinvar_Rec_12953	rs756840607	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided	RCV000332061;RCV000382243;RCV000733867	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756840607
Clinvar_Rec_12954	rs180727534	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Intellectual functioning disability;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000284405;RCV000393083;RCV000815827;RCV000077791;RCV000815827;RCV000713587	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT;OMIM;SNOMED CT;SNOMED CT;OMIM;Orphanet	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen;612998;MedGen;228156007;91138005;MedGen;610743;ORPHA88644;MedGen	criteria provided, conflicting interpretations	tagSNP	rs180727534
Clinvar_Rec_12955	rs372524102	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000819844;RCV000819844;RCV000517152	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372524102
Clinvar_Rec_12956	rs187410988	Conflicting interpretations of pathogenicity	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not provided	RCV000367410;RCV000312860;RCV000387537	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004;MedGen	criteria provided, conflicting interpretations	tagSNP	rs187410988
Clinvar_Rec_12957	rs767783076	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8	RCV000553244;RCV000553244	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644	criteria provided, single submitter	tagSNP	rs767783076
Clinvar_Rec_12958	rs886061213	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000387184;RCV000330458	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs886061213
Clinvar_Rec_12959	rs369355230	Uncertain significance	Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided	RCV000810247;RCV000810247;RCV000713628	MedGen;OMIM;OMIM;Orphanet	C2751807;612998;MedGen;610743;ORPHA88644;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369355230
Clinvar_Rec_12960	rs747634832	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000378389;RCV000324318	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs747634832
Clinvar_Rec_12961	rs886061220	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000314773;RCV000336210	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs886061220
Clinvar_Rec_12962	rs886061221	Uncertain significance	Cerebellar ataxia;Emery-Dreifuss muscular dystrophy	RCV000301179;RCV000392265	Human Phenotype Ontology;MedGen;SNOMED CT;Orphanet;SNOMED CT	HP;C0007758;85102008;MedGen;ORPHA261;111508004	criteria provided, single submitter	tagSNP	rs886061221
Clinvar_Rec_12963	rs151093357	Likely benign	History of neurodevelopmental disorder	RCV000719894	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs151093357
Clinvar_Rec_12964	rs148749268	Likely benign	History of neurodevelopmental disorder	RCV000717187	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs148749268
Clinvar_Rec_12965	rs876657379	Pathogenic	Coffin-Siris syndrome 1	RCV000024208	MedGen;OMIM	C3281201;135900	no assertion criteria provided	tagSNP	rs876657379
Clinvar_Rec_12966	rs1562354784	Likely pathogenic	Coffin-Siris syndrome 1	RCV000785962	MedGen;OMIM	C3281201;135900	criteria provided, single submitter	tagSNP	rs1562354784
Clinvar_Rec_12967	rs1199625391	Pathogenic	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	RCV000029221	MedGen;OMIM;Orphanet	C3553597;614739;ORPHA352328	no assertion criteria provided	tagSNP	rs1199625391
Clinvar_Rec_12968	rs755822557	Uncertain significance	Ciliary dyskinesia, primary, 32	RCV000686412	MedGen;OMIM	C4225311;616481	criteria provided, single submitter	tagSNP	rs755822557
Clinvar_Rec_12969	rs9456711	Benign/Likely benign	Parkinson Disease, Juvenile;Parkinson disease 2;not provided	RCV000383709;RCV000469708;RCV000423189	MedGen;OMIM	C0752105;MedGen;600116;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs9456711
Clinvar_Rec_12970	rs1561865665	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	RCV000706110	MedGen;OMIM;Orphanet;SNOMED CT	C0268631;271980;ORPHA22;49748000	criteria provided, single submitter	tagSNP	rs1561865665
Clinvar_Rec_12971	rs1471758596	Likely benign	Succinate-semialdehyde dehydrogenase deficiency	RCV000634950	MedGen;OMIM;Orphanet;SNOMED CT	C0268631;271980;ORPHA22;49748000	criteria provided, single submitter	tagSNP	rs1471758596
Clinvar_Rec_12972	rs886061276	Uncertain significance	Succinate-semialdehyde dehydrogenase deficiency	RCV000328971	MedGen;OMIM;Orphanet;SNOMED CT	C0268631;271980;ORPHA22;49748000	criteria provided, single submitter	tagSNP	rs886061276
Clinvar_Rec_12973	rs149736421	Likely benign	Transient Neonatal Diabetes, Recessive	RCV000291420	MedGen	CN239376	criteria provided, single submitter	tagSNP	rs149736421
Clinvar_Rec_12974	rs201703858	Uncertain significance	Transient Neonatal Diabetes, Recessive	RCV000368168	MedGen	CN239376	criteria provided, single submitter	tagSNP	rs201703858
Clinvar_Rec_12975	rs201703858	Uncertain significance	Transient Neonatal Diabetes, Recessive	RCV000344122	MedGen	CN239376	criteria provided, single submitter	LD derived	rs184974475
Clinvar_Rec_12976	rs387907238	Pathogenic	Mitochondrial pyruvate carrier deficiency	RCV000029224	MedGen;OMIM;Orphanet	C3553607;614741;ORPHA447784	no assertion criteria provided	tagSNP	rs387907238
Clinvar_Rec_12977	rs750265990	Uncertain significance	Leukoencephalopathy, cystic, without megalencephaly	RCV000369431	MedGen;OMIM;Orphanet	C2751843;612951;ORPHA85136	criteria provided, single submitter	tagSNP	rs750265990
Clinvar_Rec_12978	rs2516482	drug response	Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy;adalimumab response - Efficacy;etanercept response - Efficacy;infliximab response - Efficacy	RCV000211408;RCV000211419;RCV000211242;RCV000211284	MedGen	CN236447;MedGen	reviewed by expert panel	LD derived	rs1800629
Clinvar_Rec_12979	rs11552114	Likely benign	Atypical hemolytic uremic syndrome;Complement component 2 deficiency;Macular degeneration	RCV000406201;RCV000314384;RCV000277437	MedGen;Orphanet;OMIM;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;217000;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	LD derived	rs36221133
Clinvar_Rec_12980	rs139006870	Uncertain significance	Trichohepatoenteric syndrome	RCV000288859	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs11541400
Clinvar_Rec_12981	rs104893979	Pathogenic	Sialidosis type I	RCV000002558	MedGen;Orphanet	C0023806;ORPHA812	no assertion criteria provided	tagSNP	rs104893979
Clinvar_Rec_12982	rs116048674	Conflicting interpretations of pathogenicity	Trichohepatoenteric syndrome;not provided	RCV000346192;RCV000949293	MedGen;Orphanet	C1857276;ORPHA84064;MedGen	criteria provided, conflicting interpretations	LD derived	rs3895064
Clinvar_Rec_12983	rs116048674	Conflicting interpretations of pathogenicity	Trichohepatoenteric syndrome;not provided	RCV000286953;RCV000949295	MedGen;Orphanet	C1857276;ORPHA84064;MedGen	criteria provided, conflicting interpretations	LD derived	rs143738551
Clinvar_Rec_12984	rs886061298	Uncertain significance	Trichohepatoenteric syndrome	RCV000393240	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	tagSNP	rs886061298
Clinvar_Rec_12985	rs565424838	Uncertain significance	Trichohepatoenteric syndrome	RCV000329685	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	tagSNP	rs565424838
Clinvar_Rec_12986	rs565424838	Uncertain significance	Trichohepatoenteric syndrome	RCV000384473	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs146543642
Clinvar_Rec_12987	rs150697472	Likely benign	Atypical hemolytic uremic syndrome;Complement component 2 deficiency;Macular degeneration	RCV000362438;RCV000334269;RCV000282122	MedGen;Orphanet;OMIM;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;217000;Human Phenotype Ontology;C0024437;422338006	criteria provided, single submitter	LD derived	rs45600936
Clinvar_Rec_12988	rs150697472	Likely benign	Atypical hemolytic uremic syndrome;Complement component 2 deficiency;Complement factor B deficiency;Macular degeneration	RCV000358897;RCV000987667;RCV000490470;RCV000301571	MedGen;Orphanet;OMIM;OMIM;MedGen;SNOMED CT	C2931788;ORPHA2134;MedGen;217000;MedGen;615561;Human Phenotype Ontology;C0024437;422338006	criteria provided, multiple submitters, no conflicts	LD derived	rs45484591
Clinvar_Rec_12989	rs150697472	Uncertain significance	Trichohepatoenteric syndrome	RCV000340053	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs182142262
Clinvar_Rec_12990	rs116701346	Uncertain significance	Trichohepatoenteric syndrome	RCV000371568	MedGen;Orphanet	C1857276;ORPHA84064	criteria provided, single submitter	LD derived	rs114974766
Clinvar_Rec_12991	rs141190850	Uncertain significance	Ehlers-Danlos syndrome due to tenascin-X deficiency;Vesicoureteral reflux 8;not provided;not specified	RCV000768116;RCV000768116;RCV000762400;RCV000489922	MedGen;OMIM;Orphanet;OMIM	C1848029;606408;ORPHA230839;MedGen;615963;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141190850
Clinvar_Rec_12992	rs137937891	Uncertain significance	Proteasome-associated autoinflammatory syndrome 1	RCV000689718	MedGen;OMIM;Orphanet	C4746851;256040;ORPHA2615	criteria provided, single submitter	tagSNP	rs137937891
Clinvar_Rec_12993	rs1042140	risk factor	Beryllium disease, chronic, susceptibility to	RCV000016033	-	-	no assertion criteria provided	tagSNP	rs1042140
Clinvar_Rec_12994	rs186720023	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000287796;RCV000392044;RCV000382279;RCV000352035;RCV000329091;RCV000155064	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs186720023
Clinvar_Rec_12995	rs147576338	Conflicting interpretations of pathogenicity	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000372982;RCV000296002;RCV000278452;RCV000332238;RCV000338212;RCV000731331;RCV000155069	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147576338
Clinvar_Rec_12996	rs150877886	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000328619;RCV000271268;RCV000332013;RCV000274678;RCV000385490;RCV000437212;RCV000177478	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150877886
Clinvar_Rec_12997	rs886061320	Uncertain significance	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant	RCV000375063;RCV000376340;RCV000284179;RCV000336850;RCV000324005	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, single submitter	tagSNP	rs886061320
Clinvar_Rec_12998	rs34836401	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000320631;RCV000305165;RCV000359941;RCV000406560;RCV000265543;RCV000217784	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs368309085
Clinvar_Rec_12999	rs34836401	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000402633;RCV000308309;RCV000363022;RCV000343263;RCV000391267;RCV000222762	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34478777
Clinvar_Rec_13000	rs34836401	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000274718;RCV000354206;RCV000385285;RCV000275901;RCV000333347;RCV000214622	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35765893
Clinvar_Rec_13001	rs116902687	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not specified	RCV000281349;RCV000342026;RCV000338744;RCV000393699;RCV000280159;RCV000214106	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs117267045
Clinvar_Rec_13002	rs116902687	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000291498;RCV000386746;RCV000295017;RCV000383451;RCV000348798;RCV000991813;RCV000039829	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs117237998
Clinvar_Rec_13003	rs765712832	Uncertain significance	Bare lymphocyte syndrome type 1	RCV000642358	MedGen;OMIM;Orphanet	C1858266;604571;ORPHA34592	criteria provided, single submitter	tagSNP	rs765712832
Clinvar_Rec_13004	rs1554121353	Pathogenic	Inborn genetic diseases	RCV000623462	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554121353
Clinvar_Rec_13005	rs121909074	Likely pathogenic	Retinal dystrophy;Retinitis pigmentosa 14	RCV001074767;RCV000007783	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;600132	criteria provided, single submitter	tagSNP	rs121909074
Clinvar_Rec_13006	rs762876554	Pathogenic	Deafness, autosomal recessive 67	RCV000681540	MedGen;OMIM	C1853223;610265	no assertion criteria provided	tagSNP	rs762876554
Clinvar_Rec_13007	rs759714537	Uncertain significance	Primary ciliary dyskinesia	RCV000687787	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs759714537
Clinvar_Rec_13008	rs774818998	Uncertain significance	Primary ciliary dyskinesia	RCV000629389	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs774818998
Clinvar_Rec_13009	rs546908684	Uncertain significance	Combined molybdoflavoprotein enzyme deficiency	RCV000395842	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	LD derived	rs192141515
Clinvar_Rec_13010	rs112059918	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000393392	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	tagSNP	rs112059918
Clinvar_Rec_13011	rs112059918	Uncertain significance	Combined molybdoflavoprotein enzyme deficiency	RCV000337835	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	tagSNP	rs112059918
Clinvar_Rec_13012	rs753777378	Uncertain significance	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	RCV000376374	MedGen;OMIM	C4721893;221770	criteria provided, single submitter	tagSNP	rs753777378
Clinvar_Rec_13013	rs2234256	Benign/Likely benign	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1;not specified	RCV000288246;RCV000593161	MedGen;OMIM	C4721893;221770;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2234256
Clinvar_Rec_13014	rs35969994	Uncertain significance	Cone/cone-rod dystrophy;not provided	RCV000349183;RCV000153342	Human Phenotype Ontology;MedGen;Orphanet	HP;C0730290;ORPHA1871;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35969994
Clinvar_Rec_13015	rs405043	Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy	RCV000367867;RCV000355159;RCV000314412;RCV000394711;RCV000308627;RCV000277928	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	tagSNP	rs405043
Clinvar_Rec_13016	rs405043	Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy	RCV000260087;RCV000320017;RCV000320957;RCV000266179;RCV000374671;RCV000380174	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	LD derived	rs405059
Clinvar_Rec_13017	rs405043	Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy	RCV000403193;RCV000351245;RCV000290349;RCV000349939;RCV000314895;RCV000403470	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	LD derived	rs1758213
Clinvar_Rec_13018	rs405043	Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy	RCV000380914;RCV000324032;RCV000384226;RCV000269988;RCV000292134;RCV000327439	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, single submitter	LD derived	rs432753
Clinvar_Rec_13019	rs405043	Benign/Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy;not provided;not specified	RCV000388148;RCV000338398;RCV000316146;RCV000280986;RCV000373093;RCV000277323;RCV000127756;RCV000153779	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs434102
Clinvar_Rec_13020	rs405043	Benign/Likely benign	Choroidal Dystrophy;Cone-Rod Dystrophy, Dominant;Patterned dystrophy of retinal pigment epithelium;Pigmentary retinal dystrophy;Retinitis Pigmentosa, Dominant;Vitelliform macular dystrophy;not specified	RCV000324837;RCV000339530;RCV000391586;RCV000285041;RCV000379504;RCV000288514;RCV000153781	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT	C0730291;MedGen;169150;Human Phenotype Ontology;C0311338;136880;ORPHA227796;68222009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs390659
Clinvar_Rec_13021	rs61755769	Pathogenic	Macular dystrophy, vitelliform, adult-onset;Retinal dystrophy;not provided	RCV000014063;RCV001074733;RCV000084953	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C1842914;608161;ORPHA99000;Human Phenotype Ontology;C0854723;ORPHA71862;314407005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61755769
Clinvar_Rec_13022	rs112966640	Benign/Likely benign	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000265794;RCV000676095;RCV000178749	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200121485
Clinvar_Rec_13023	rs112966640	Benign/Likely benign	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000301759;RCV000639509;RCV000078569	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs11539736
Clinvar_Rec_13024	rs267608246	Uncertain significance	Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4a (zellweger)	RCV000666171;RCV000666171	MedGen;OMIM;OMIM	C3553937;614863;MedGen;614862	criteria provided, single submitter	tagSNP	rs267608246
Clinvar_Rec_13025	rs267608241	Pathogenic/Likely pathogenic	Heimler syndrome 2;Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 4a (zellweger);Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided	RCV000763145;RCV000667668;RCV000763145;RCV000763145;RCV000802432;RCV000657597	MedGen;OMIM;OMIM;OMIM;OMIM;Orphanet	C4225267;616617;MedGen;614863;MedGen;614863;MedGen;614862;MedGen;ORPHA79189;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267608241
Clinvar_Rec_13026	rs35830695	Benign/Likely benign	Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 4a (zellweger);not provided;not specified	RCV000307162;RCV000987701;RCV000676091;RCV000153690	MedGen;OMIM;Orphanet;OMIM	C4721541;214100;ORPHA912;MedGen;614862;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35830695
Clinvar_Rec_13027	rs142958800	Uncertain significance	Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided	RCV001049098;RCV000597689	MedGen;Orphanet	C1832200;ORPHA79189;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146416679
Clinvar_Rec_13028	rs2273917	Benign	Three M syndrome;not specified	RCV000368143;RCV000242141	MedGen;Orphanet	CN073943;ORPHA2616;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2273917
Clinvar_Rec_13029	rs886061417	Uncertain significance	Three M syndrome	RCV000373688	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	tagSNP	rs886061417
Clinvar_Rec_13030	rs141829168	Uncertain significance	Three M syndrome	RCV000295551	MedGen;Orphanet	CN073943;ORPHA2616	criteria provided, single submitter	tagSNP	rs141829168
Clinvar_Rec_13031	rs201406974	Pathogenic/Likely pathogenic	Three M syndrome 1;not provided	RCV000115042;RCV000171523	MedGen;OMIM	C1848862;273750;MedGen	no assertion criteria provided	tagSNP	rs201406974
Clinvar_Rec_13032	rs78262217	Benign/Likely benign	Xeroderma pigmentosum;not specified	RCV000408010;RCV000247560	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs9333555
Clinvar_Rec_13033	rs78262217	Likely benign	Xeroderma pigmentosum	RCV000290947	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	LD derived	rs9333558
Clinvar_Rec_13034	rs112092257	Benign	Combined oxidative phosphorylation deficiency	RCV000275062	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs112092257
Clinvar_Rec_13035	rs886061488	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000351563	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886061488
Clinvar_Rec_13036	rs368161524	Uncertain significance	Congenital anomalies of kidney and urinary tract	RCV000416577	MedGen;Orphanet	C1968949;ORPHA93545	criteria provided, single submitter	tagSNP	rs368161524
Clinvar_Rec_13037	rs78935067	Likely benign	Cleidocranial dysostosis	RCV000395104	MedGen;OMIM;Orphanet;SNOMED CT	C0008928;119600;ORPHA1452;65976001	criteria provided, single submitter	tagSNP	rs78935067
Clinvar_Rec_13038	rs1562050952	Uncertain significance	Focal segmental glomerulosclerosis 3, susceptibility to	RCV000779510	MedGen;OMIM	C1842982;607832	criteria provided, single submitter	tagSNP	rs1562050952
Clinvar_Rec_13039	rs145347609	Uncertain significance	Focal segmental glomerulosclerosis	RCV000347583	Human Phenotype Ontology;MedGen	HP;C0017668	criteria provided, single submitter	tagSNP	rs145347609
Clinvar_Rec_13040	rs864309739	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000203365	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	no assertion criteria provided	tagSNP	rs864309739
Clinvar_Rec_13041	rs879253840	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000236522	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	criteria provided, single submitter	tagSNP	rs879253840
Clinvar_Rec_13042	rs150968643	Uncertain significance	Methylmalonic acidemia;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided	RCV000330098;RCV000706536;RCV000726418	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT;OMIM;Orphanet	HP;C537358;C0268583;42393006;MedGen;251000;ORPHA27;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs150968643
Clinvar_Rec_13043	rs758577372	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	RCV000236170	MedGen;OMIM;Orphanet	C1855114;251000;ORPHA27	criteria provided, single submitter	tagSNP	rs758577372
Clinvar_Rec_13044	rs187079439	Likely benign	Char syndrome	RCV000311871	MedGen;OMIM;Orphanet	C1868570;169100;ORPHA46627	criteria provided, single submitter	tagSNP	rs187079439
Clinvar_Rec_13045	rs886061590	Uncertain significance	Char syndrome	RCV000379700	MedGen;OMIM;Orphanet	C1868570;169100;ORPHA46627	criteria provided, single submitter	tagSNP	rs886061590
Clinvar_Rec_13046	rs1554163379	Uncertain significance	Autosomal recessive polycystic kidney disease	RCV000666157	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs1554163379
Clinvar_Rec_13047	rs769559267	Pathogenic	Autosomal recessive polycystic kidney disease;not provided	RCV001004187;RCV000728802	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs769559267
Clinvar_Rec_13048	rs780182068	Pathogenic	Autosomal recessive polycystic kidney disease	RCV000781731	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs780182068
Clinvar_Rec_13049	rs765209037	Likely pathogenic	Autosomal recessive polycystic kidney disease	RCV000665232	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs765209037
Clinvar_Rec_13050	rs777377414	Conflicting interpretations of pathogenicity	Autosomal recessive polycystic kidney disease;not provided	RCV000673683;RCV000788834	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs777377414
Clinvar_Rec_13051	rs1057516413	Likely pathogenic	Autosomal recessive polycystic kidney disease	RCV000409842	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs1057516413
Clinvar_Rec_13052	rs45503297	Benign/Likely benign	Autosomal recessive polycystic kidney disease;not provided;not specified	RCV000169053;RCV000857874;RCV000153707	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45503297
Clinvar_Rec_13053	rs199996156	Conflicting interpretations of pathogenicity	Autosomal recessive polycystic kidney disease;not provided;not specified	RCV000383504;RCV000864470;RCV000780596	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199996156
Clinvar_Rec_13054	rs1554162788	Uncertain significance	Autosomal recessive polycystic kidney disease	RCV000665494	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs1554162788
Clinvar_Rec_13055	rs751889282	Likely benign	Autosomal recessive polycystic kidney disease	RCV000541821	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003	criteria provided, single submitter	tagSNP	rs751889282
Clinvar_Rec_13056	rs144025892	Conflicting interpretations of pathogenicity	Autosomal recessive polycystic kidney disease;not provided	RCV000327475;RCV000082566	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144025892
Clinvar_Rec_13057	rs144025892	Conflicting interpretations of pathogenicity	Autosomal recessive polycystic kidney disease;not provided	RCV000306360;RCV000082544	MedGen;OMIM;Orphanet;SNOMED CT	C0085548;263200;ORPHA731;28770003;MedGen	criteria provided, conflicting interpretations	LD derived	rs138989655
Clinvar_Rec_13058	rs148940532	Benign/Likely benign	Familial Candidiasis, Dominant;not provided	RCV000266313;RCV000648861	MedGen	CN239233;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148940532
Clinvar_Rec_13059	rs748486078	Pathogenic	Candidiasis, familial, 6	RCV000023553	MedGen;OMIM	C3151405;613956	no assertion criteria provided	tagSNP	rs748486078
Clinvar_Rec_13060	rs532652384	Uncertain significance	Epilepsy, juvenile absence, susceptibility to, 1;Juvenile myoclonic epilepsy;not provided	RCV000460549;RCV000460549;RCV000187379	MedGen;OMIM;OMIM;Orphanet	C2750892;607631;MedGen;254770;ORPHA307;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs543160745
Clinvar_Rec_13061	rs3804506	Benign/Likely benign	Juvenile myoclonic epilepsy;not specified	RCV000272870;RCV000116949	MedGen;OMIM;Orphanet	C0270853;254770;ORPHA307;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3804506
Clinvar_Rec_13062	rs3804506	Likely benign	Juvenile myoclonic epilepsy	RCV000385142	MedGen;OMIM;Orphanet	C0270853;254770;ORPHA307	criteria provided, single submitter	LD derived	rs6926242
Clinvar_Rec_13063	rs201543041	Uncertain significance	Epilepsy, juvenile absence, susceptibility to, 1;Juvenile myoclonic epilepsy;Juvenile myoclonic epilepsy;Typical absence seizures	RCV000694200;RCV000694200;RCV001034663;RCV001034663	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;MedGen	C2750892;607631;MedGen;254770;ORPHA307;MedGen;254770;ORPHA307;Human Phenotype Ontology;C0014553	criteria provided, multiple submitters, no conflicts	tagSNP	rs201543041
Clinvar_Rec_13064	rs6919266	Likely benign	Juvenile myoclonic epilepsy	RCV000303058	MedGen;OMIM;Orphanet	C0270853;254770;ORPHA307	criteria provided, single submitter	tagSNP	rs6919266
Clinvar_Rec_13065	rs191081991	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI;not provided	RCV000625440;RCV000998632	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs191081991
Clinvar_Rec_13066	rs1554497505	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000651744;RCV000651744	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1554497505
Clinvar_Rec_13067	rs1230491645	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000699345;RCV000699345	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1230491645
Clinvar_Rec_13068	rs886061646	Uncertain significance	Neuropathy, hereditary sensory and autonomic, type VI	RCV000356813	MedGen;OMIM;Orphanet	C3539003;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs886061646
Clinvar_Rec_13069	rs776786063	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000651736;RCV000651736	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs776786063
Clinvar_Rec_13070	rs1554529510	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000651737;RCV000651737	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs1554529510
Clinvar_Rec_13071	rs144056466	Uncertain significance	Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI	RCV000685875;RCV000685875	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3809470;615425;ORPHA412181;MedGen;614653;ORPHA314381	criteria provided, single submitter	tagSNP	rs144056466
Clinvar_Rec_13072	rs80214412	Conflicting interpretations of pathogenicity	Retinitis Pigmentosa, Recessive;not provided;not specified	RCV000307156;RCV000883207;RCV000153206	MedGen	CN239466;MedGen	criteria provided, conflicting interpretations	LD derived	rs61754905
Clinvar_Rec_13073	rs758109813	Pathogenic	Retinal dystrophy;Retinitis pigmentosa 25;not provided	RCV001073786;RCV000340528;RCV000724856	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;602772;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs758109813
Clinvar_Rec_13074	rs1562263385	Pathogenic	Retinitis pigmentosa 25	RCV000760151	MedGen;OMIM	C1864446;602772	criteria provided, single submitter	tagSNP	rs1562263385
Clinvar_Rec_13075	rs1562079314	Pathogenic	Retinitis pigmentosa 25	RCV000678567	MedGen;OMIM	C1864446;602772	no assertion criteria provided	tagSNP	rs1562079314
Clinvar_Rec_13076	rs886061677	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000372011	MedGen	CN239466	criteria provided, single submitter	tagSNP	rs886061677
Clinvar_Rec_13077	rs536260976	Uncertain significance	Retinitis Pigmentosa, Recessive	RCV000300562	MedGen	CN239466	criteria provided, single submitter	LD derived	rs557152369
Clinvar_Rec_13078	rs189754995	Pathogenic	Stickler syndrome, type 4	RCV000148951	MedGen;OMIM	C3279941;614134	no assertion criteria provided	tagSNP	rs189754995
Clinvar_Rec_13079	rs143848379	Conflicting interpretations of pathogenicity	Multiple epiphyseal dysplasia 6;Stickler syndrome, type 4;not provided	RCV000764655;RCV000764655;RCV000732119	MedGen;OMIM;OMIM	C2675767;614135;MedGen;614134;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143848379
Clinvar_Rec_13080	rs555947867	Likely benign	Cone-Rod Dystrophy, Dominant	RCV000365353	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs555947867
Clinvar_Rec_13081	rs886061704	Uncertain significance	Cone-Rod Dystrophy, Dominant	RCV000399712	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs886061704
Clinvar_Rec_13082	rs1554160206	Uncertain significance	Salla disease	RCV000673711	MedGen;OMIM;Orphanet;SNOMED CT	C1096903;604369;ORPHA309334;87074006	criteria provided, single submitter	tagSNP	rs1554160206
Clinvar_Rec_13083	rs201284672	Pathogenic	Salla disease;Salla disease;Sialic acid storage disease, severe infantile type;not specified	RCV000670139;RCV000763561;RCV000763561;RCV000506820	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C1096903;604369;ORPHA309334;87074006;MedGen;604369;ORPHA309334;87074006;MedGen;269920;ORPHA309324;34566007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201284672
Clinvar_Rec_13084	rs199693016	Uncertain significance	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2	RCV000707655;RCV000707655	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470	criteria provided, multiple submitters, no conflicts	tagSNP	rs199693016
Clinvar_Rec_13085	rs1554168326	Likely pathogenic	Inborn genetic diseases	RCV000623950	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554168326
Clinvar_Rec_13086	rs1015843320	Likely benign	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2	RCV000652927;RCV000652927	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470	criteria provided, single submitter	tagSNP	rs1015843320
Clinvar_Rec_13087	rs373637483	Uncertain significance	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2;not provided	RCV000802768;RCV000802768;RCV000518879	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373637483
Clinvar_Rec_13088	rs750374337	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive	RCV000264556;RCV000356996	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs750374337
Clinvar_Rec_13089	rs886061760	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive	RCV000303820;RCV000360939	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886061760
Clinvar_Rec_13090	rs397517045	Likely pathogenic	Rare genetic deafness	RCV000038290	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs397517045
Clinvar_Rec_13091	rs121912558	Pathogenic	Deafness, autosomal recessive 37	RCV000009110	MedGen;OMIM	C1843028;607821	no assertion criteria provided	tagSNP	rs121912558
Clinvar_Rec_13092	rs886061775	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive	RCV000376160;RCV000281690	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs886061775
Clinvar_Rec_13093	rs1246984003	Uncertain significance	Maple syrup urine disease	RCV000674818	MeSH;MedGen;OMIM;Orphanet;SNOMED CT	D008375;C0024776;248600;ORPHA511;27718001	criteria provided, single submitter	tagSNP	rs1246984003
Clinvar_Rec_13094	rs765088174	Likely pathogenic	Pontocerebellar hypoplasia type 6	RCV000578317	MedGen;OMIM;Orphanet	C1969084;611523;ORPHA166073	criteria provided, single submitter	tagSNP	rs765088174
Clinvar_Rec_13095	rs1554203400	Likely pathogenic	Pontocerebellar hypoplasia type 6	RCV000502246	MedGen;OMIM;Orphanet	C1969084;611523;ORPHA166073	criteria provided, single submitter	tagSNP	rs1554203400
Clinvar_Rec_13096	rs774923951	Pathogenic	Inborn genetic diseases;Pontocerebellar hypoplasia type 6;not provided	RCV000210553;RCV000680147;RCV000657931	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;611523;ORPHA166073;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs774923951
Clinvar_Rec_13097	rs28381459	Conflicting interpretations of pathogenicity	Pontoneocerebellar hypoplasia;not specified	RCV000397282;RCV000193180	MedGen;SNOMED CT	C1261175;373666002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs28381459
Clinvar_Rec_13098	rs200228607	Conflicting interpretations of pathogenicity	Pontoneocerebellar hypoplasia;not specified	RCV000308701;RCV000442454	MedGen;SNOMED CT	C1261175;373666002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200228607
Clinvar_Rec_13099	rs748437516	Uncertain significance	Mitochondrial complex I deficiency	RCV000268561	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs748437516
Clinvar_Rec_13100	rs534670512	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000501069	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs534670512
Clinvar_Rec_13101	rs778207313	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000500560	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs778207313
Clinvar_Rec_13102	rs757780723	Uncertain significance	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	RCV000502151	MedGen;OMIM;Orphanet	C3809592;615471;ORPHA369897	criteria provided, single submitter	tagSNP	rs757780723
Clinvar_Rec_13103	rs3734355	Benign	Schaaf-yang syndrome	RCV000337704	MedGen;OMIM;Orphanet	C3809877;615547;ORPHA398073	criteria provided, single submitter	tagSNP	rs3734355
Clinvar_Rec_13104	rs869025281	Pathogenic	Spastic paraplegia and psychomotor retardation with or without seizures;not provided	RCV000207215;RCV000578801	MedGen;OMIM;Orphanet	C4225215;616756;ORPHA464282;MedGen	criteria provided, single submitter	tagSNP	rs869025281
Clinvar_Rec_13105	rs768907625	Uncertain significance	Primary ciliary dyskinesia	RCV000547307	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs768907625
Clinvar_Rec_13106	rs368098310	Uncertain significance	Primary ciliary dyskinesia	RCV000699525	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs368098310
Clinvar_Rec_13107	rs1562490891	Uncertain significance	B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11	RCV000693542;RCV000693542	MedGen;OMIM;Orphanet;OMIM;Orphanet	C4551967;616452;ORPHA464336;MedGen;615206;ORPHA357237	criteria provided, single submitter	tagSNP	rs1562490891
Clinvar_Rec_13108	rs117704110	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000467041;RCV000116377	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549839
Clinvar_Rec_13109	rs117704110	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000463367;RCV000116378	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549840
Clinvar_Rec_13110	rs775289012	Uncertain significance	Spastic Paraplegia, Recessive	RCV000278489	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs775289012
Clinvar_Rec_13111	rs117029435	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000467041;RCV000116377	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549839
Clinvar_Rec_13112	rs117029435	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000463367;RCV000116378	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs11549840
Clinvar_Rec_13113	rs117029435	Conflicting interpretations of pathogenicity	Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified	RCV000308741;RCV000234025;RCV000116374	MedGen;OMIM;Orphanet	CN239433;MedGen;613647;ORPHA306511;MedGen	criteria provided, conflicting interpretations	LD derived	rs117666541
Clinvar_Rec_13114	rs117029435	Benign/Likely benign	Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified	RCV000261000;RCV000234465;RCV000455474	MedGen;OMIM;Orphanet	CN239433;MedGen;613647;ORPHA306511;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs77890266
Clinvar_Rec_13115	rs117029435	Benign	Spastic paraplegia 48, autosomal recessive;not specified	RCV000474993;RCV000116376	MedGen;OMIM;Orphanet	C3150901;613647;ORPHA306511;MedGen	criteria provided, single submitter	LD derived	rs77393809
Clinvar_Rec_13116	rs149131747	Uncertain significance	Spastic Paraplegia, Recessive	RCV000381291	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs149131747
Clinvar_Rec_13117	rs886062365	Uncertain significance	Spastic Paraplegia, Recessive	RCV000354379	MedGen	CN239433	criteria provided, single submitter	tagSNP	rs886062365
Clinvar_Rec_13118	rs794728000	Pathogenic	Gordon Holmes syndrome	RCV000180793	MedGen;OMIM;Orphanet	C1859305;212840;ORPHA1173	no assertion criteria provided	tagSNP	rs794728000
Clinvar_Rec_13119	rs747600189	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000572773;RCV000679360	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747600189
Clinvar_Rec_13120	rs1554292880	Pathogenic	Lynch syndrome	RCV000503369	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs1554292880
Clinvar_Rec_13121	rs1554297410	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000583127;RCV000797317	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, conflicting interpretations	tagSNP	rs1554297410
Clinvar_Rec_13122	rs752122569	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000567275;RCV000629999	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs752122569
Clinvar_Rec_13123	rs1554297898	Likely benign	Hereditary cancer-predisposing syndrome	RCV000573479	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554297898
Clinvar_Rec_13124	rs1554297975	Uncertain significance	Hereditary nonpolyposis colon cancer	RCV000629736	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	tagSNP	rs1554297975
Clinvar_Rec_13125	rs63750246	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided	RCV000165221;RCV000627706;RCV000411556;RCV000076895;RCV000657185	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs63750246
Clinvar_Rec_13126	rs863224369	Likely benign	Lynch syndrome	RCV000196262	MedGen;Orphanet	C1333990;ORPHA144	criteria provided, single submitter	tagSNP	rs863224369
Clinvar_Rec_13127	rs786201073	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000575240;RCV000630280	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201073
Clinvar_Rec_13128	rs786201073	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000162534;RCV000559233	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs786201073
Clinvar_Rec_13129	rs1562695554	Likely benign	Hereditary cancer-predisposing syndrome	RCV000772482	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1562695554
Clinvar_Rec_13130	rs587782176	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000130790;RCV000686892	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782176
Clinvar_Rec_13131	rs587782176	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4	RCV000167311;RCV000226294;RCV000663174	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614337	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782176
Clinvar_Rec_13132	rs115287891	Uncertain significance	Congenital disorder of glycosylation	RCV000267253	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs115287891
Clinvar_Rec_13133	rs113608618	Uncertain significance	Congenital disorder of glycosylation	RCV000386458	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs6958137
Clinvar_Rec_13134	rs113608618	Uncertain significance	Congenital disorder of glycosylation	RCV000279475	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs6958494
Clinvar_Rec_13135	rs386833446	Likely pathogenic	Congenital secretory diarrhea, chloride type	RCV000049373	MedGen;OMIM;Orphanet;SNOMED CT	C0267662;214700;ORPHA53689;24412005	no assertion criteria provided	tagSNP	rs386833446
Clinvar_Rec_13136	rs34407351	Likely benign	Congenital secretory diarrhea, chloride type	RCV000330158	MedGen;OMIM;Orphanet;SNOMED CT	C0267662;214700;ORPHA53689;24412005	criteria provided, single submitter	tagSNP	rs34407351
Clinvar_Rec_13137	rs771063685	Likely benign	Speech-language disorder 1	RCV000306952	MedGen;OMIM;Orphanet	C0750927;602081;ORPHA209908	criteria provided, single submitter	tagSNP	rs771063685
Clinvar_Rec_13138	rs530932258	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000688952	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs530932258
Clinvar_Rec_13139	rs759227622	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000458527	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs759227622
Clinvar_Rec_13140	rs374733251	Uncertain significance	Deafness, autosomal recessive 97;Hepatocellular carcinoma;Hereditary cancer-predisposing syndrome;Osteofibrous dysplasia;Renal cell carcinoma, papillary, 1;Renal cell carcinoma, papillary, 1	RCV000765920;RCV000765920;RCV000163595;RCV000765920;RCV000167933;RCV000765920	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;Orphanet;SNOMED CT;OMIM;Orphanet;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C4084709;616705;Human Phenotype Ontology;C2239176;114550;ORPHA88673;187769009;25370001;MedGen;ORPHA140162;699346009;MedGen;607278;ORPHA488265;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs374733251
Clinvar_Rec_13141	rs1562920414	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000697153	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs1562920414
Clinvar_Rec_13142	rs777748634	Uncertain significance	Renal cell carcinoma, papillary, 1	RCV000548663	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, single submitter	tagSNP	rs777748634
Clinvar_Rec_13143	rs771328219	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000567924;RCV000235726	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs771328219
Clinvar_Rec_13144	rs376068978	Likely pathogenic	Brain atrophy;Global developmental delay;Intractable seizure	RCV000162112;RCV000162112;RCV000162112	Human Phenotype Ontology;MedGen;MedGen	HP;C4551584;Human Phenotype Ontology;C0557874;MedGen	no assertion criteria provided	LD derived	rs550492993
Clinvar_Rec_13145	rs397508673	Pathogenic	Cystic fibrosis	RCV001009425	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs397508673
Clinvar_Rec_13146	rs772774651	Uncertain significance	Cystic fibrosis;Inborn genetic diseases;not provided	RCV000819753;RCV001022035;RCV000588867	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0010674;219700;ORPHA586;190905008;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772774651
Clinvar_Rec_13147	rs1800073	Conflicting interpretations of pathogenicity	Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Cystic fibrosis;Hereditary pancreatitis;Inborn genetic diseases;not provided;not specified	RCV000515170;RCV000515170;RCV000029548;RCV000515170;RCV000515170;RCV001018998;RCV000723380;RCV000251973	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen	C2749757;211400;MedGen;277180;ORPHA48;MedGen;219700;ORPHA586;190905008;MedGen;219700;ORPHA586;190905008;MedGen;167800;ORPHA676;68072000;MeSH;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1800073
Clinvar_Rec_13148	rs397508794	Pathogenic	Cystic fibrosis	RCV000577335	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs397508794
Clinvar_Rec_13149	rs397508155	not provided	Cystic fibrosis	RCV000577612	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	no assertion provided	tagSNP	rs397508155
Clinvar_Rec_13150	rs397508155	not provided	Cystic fibrosis	RCV000577402	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	no assertion provided	tagSNP	rs397508155
Clinvar_Rec_13151	rs201295415	Uncertain significance	Inborn genetic diseases;not provided	RCV001014196;RCV000378943	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201295415
Clinvar_Rec_13152	rs397508374	not provided	Cystic fibrosis	RCV000577764	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	no assertion provided	tagSNP	rs397508374
Clinvar_Rec_13153	rs142394380	Pathogenic	Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Cystic fibrosis;not provided;not specified	RCV001004296;RCV000046807;RCV001004296;RCV000078994;RCV000999884	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0403814;277180;ORPHA48;MedGen;219700;ORPHA586;190905008;MedGen;219700;ORPHA586;190905008;MedGen	reviewed by expert panel	tagSNP	rs142394380
Clinvar_Rec_13154	rs387906366	Pathogenic	Cystic fibrosis	RCV000007581	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs387906366
Clinvar_Rec_13155	rs397508552	Pathogenic	Cystic fibrosis	RCV001009406	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs397508552
Clinvar_Rec_13156	rs193922528	Likely pathogenic	Cystic fibrosis	RCV000029541	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs193922528
Clinvar_Rec_13157	rs121909043	Likely pathogenic	Cystic fibrosis	RCV000671423	MedGen;OMIM;Orphanet;SNOMED CT	C0010674;219700;ORPHA586;190905008	criteria provided, single submitter	tagSNP	rs121909043
Clinvar_Rec_13158	rs121909043	Pathogenic/Likely pathogenic	Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Cystic fibrosis;Sweat chloride elevation without cystic fibrosis	RCV001004310;RCV000590108;RCV001004310;RCV000007644	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0403814;277180;ORPHA48;MedGen;219700;ORPHA586;190905008;MedGen;219700;ORPHA586;190905008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121909043
Clinvar_Rec_13159	rs1168875214	Uncertain significance	Early myoclonic encephalopathy	RCV000689371	MedGen;OMIM;Orphanet;SNOMED CT	C0270855;609304;ORPHA1935;44423001	criteria provided, single submitter	tagSNP	rs1168875214
Clinvar_Rec_13160	rs1554418234	Uncertain significance	Melanoma, cutaneous malignant, susceptibility to, 10	RCV000544377	MedGen;OMIM	C4014476;615848	criteria provided, single submitter	tagSNP	rs1554418234
Clinvar_Rec_13161	rs774858551	Uncertain significance	Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10	RCV001011806;RCV000559195	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;615848	criteria provided, multiple submitters, no conflicts	tagSNP	rs774858551
Clinvar_Rec_13162	rs142426878	Uncertain significance	Monogenic diabetes;not provided	RCV000445523;RCV000998902	MedGen;Orphanet	C3888631;ORPHA183625;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142426878
Clinvar_Rec_13163	rs533462973	Likely benign	Maturity onset diabetes mellitus in young	RCV000274890	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs533462973
Clinvar_Rec_13164	rs886061972	Uncertain significance	Leptin deficiency or dysfunction;Monogenic Non-Syndromic Obesity	RCV000376522;RCV000342914	MedGen;OMIM;Orphanet	C3554224;614962;ORPHA66628;MedGen	criteria provided, single submitter	tagSNP	rs886061972
Clinvar_Rec_13165	rs76601079	Uncertain significance	Leptin deficiency or dysfunction;Monogenic Non-Syndromic Obesity	RCV000268906;RCV000326220	MedGen;OMIM;Orphanet	C3554224;614962;ORPHA66628;MedGen	criteria provided, single submitter	tagSNP	rs76601079
Clinvar_Rec_13166	rs118204055	Pathogenic	Alopecia, neurologic defects, and endocrinopathy syndrome	RCV000000768	MedGen;OMIM;Orphanet	C2677535;612079;ORPHA157954	no assertion criteria provided	tagSNP	rs118204055
Clinvar_Rec_13167	rs1562988843	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000689852;RCV000689852;RCV000689852;RCV000689852	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs1562988843
Clinvar_Rec_13168	rs759075520	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000554572;RCV000554572;RCV000554572;RCV000554572	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs759075520
Clinvar_Rec_13169	rs199935488	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000530599;RCV000530599;RCV000530599;RCV000530599	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs199935488
Clinvar_Rec_13170	rs374847180	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000688149;RCV000688149;RCV000688149;RCV000688149	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs374847180
Clinvar_Rec_13171	rs1554397822	Uncertain significance	Muscle weakness	RCV000515702	Human Phenotype Ontology;MedGen	HP;C0151786	no assertion criteria provided	tagSNP	rs1554397822
Clinvar_Rec_13172	rs1554398303	Likely benign	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000649235;RCV000649235;RCV000649235;RCV000649235	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs1554398303
Clinvar_Rec_13173	rs1562995383	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000702724;RCV000702724;RCV000702724;RCV000702724	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs1562995383
Clinvar_Rec_13174	rs199707920	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000649155;RCV000649155;RCV000649155;RCV000649155	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs199707920
Clinvar_Rec_13175	rs377489161	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000649083;RCV000649083;RCV000649083;RCV000649083	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs377489161
Clinvar_Rec_13176	rs1386646158	Likely benign	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000533479;RCV000533479;RCV000533479;RCV000533479	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs1386646158
Clinvar_Rec_13177	rs923795184	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;Wolff-Parkinson-White pattern	RCV001036816;RCV001036816;RCV001036816;RCV001036816;RCV000656200	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273;MedGen;194200;ORPHA907;74390002	criteria provided, single submitter	tagSNP	rs923795184
Clinvar_Rec_13178	rs375139827	Likely benign	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000649266;RCV000649266;RCV000649266;RCV000649266	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs375139827
Clinvar_Rec_13179	rs1563006160	Uncertain significance	Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4	RCV000685726;RCV000685726;RCV000685726;RCV000685726	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4310749;617047;MedGen;609524;ORPHA171445;MedGen;614065;ORPHA63273	criteria provided, single submitter	tagSNP	rs1563006160
Clinvar_Rec_13180	rs554826749	Uncertain significance	Joubert syndrome	RCV000277002	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs554826749
Clinvar_Rec_13181	rs1562956929	Likely pathogenic	Rasopathy	RCV000736073	MedGen;Orphanet	CN166718;ORPHA536391	criteria provided, single submitter	tagSNP	rs1562956929
Clinvar_Rec_13182	rs397507456	Benign	Cardiomyopathy;Rasopathy;not provided;not specified	RCV000853030;RCV000520051;RCV000590699;RCV000037950	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;Orphanet	HP;C0878544;ORPHA167848;85898001;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs397507456
Clinvar_Rec_13183	rs148553992	Uncertain significance	Congenital cataract;Sengers syndrome	RCV000312506;RCV000273712	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0009691;79410001;MedGen;212350;ORPHA1369	criteria provided, single submitter	tagSNP	rs148553992
Clinvar_Rec_13184	rs886062017	Uncertain significance	Congenital cataract;Sengers syndrome	RCV000364867;RCV000272251	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet	HP;C0009691;79410001;MedGen;212350;ORPHA1369	criteria provided, single submitter	tagSNP	rs886062017
Clinvar_Rec_13185	rs1554401641	Pathogenic	Sengers syndrome	RCV000023813	MedGen;OMIM;Orphanet	C1859317;212350;ORPHA1369	no assertion criteria provided	tagSNP	rs1554401641
Clinvar_Rec_13186	rs1563261113	Uncertain significance	Hereditary pancreatitis	RCV000707326	MedGen;OMIM;Orphanet;SNOMED CT	C0238339;167800;ORPHA676;68072000	criteria provided, single submitter	tagSNP	rs1563261113
Clinvar_Rec_13187	rs80356684	Pathogenic	Myotonia congenita	RCV000020110	MedGen;Orphanet	C0027127;ORPHA206973	no assertion criteria provided	tagSNP	rs80356684
Clinvar_Rec_13188	rs748639603	Pathogenic/Likely pathogenic	Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;not provided	RCV000692856;RCV000692856;RCV000991825	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C2936781;160800;ORPHA614;57938005;MedGen;255700;20305008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs748639603
Clinvar_Rec_13189	rs201894078	Pathogenic	Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;not provided	RCV000638229;RCV000638229;RCV000518160	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C2936781;160800;ORPHA614;57938005;MedGen;255700;20305008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201894078
Clinvar_Rec_13190	rs1424224517	Uncertain significance	Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form	RCV000638246;RCV000638246	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C2936781;160800;ORPHA614;57938005;MedGen;255700;20305008	criteria provided, single submitter	tagSNP	rs1424224517
Clinvar_Rec_13191	rs138463368	Benign/Likely benign	Premature ovarian failure;not specified	RCV000303432;RCV000433477	MedGen;SNOMED CT	C0085215;237788002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138463368
Clinvar_Rec_13192	rs1208179	Benign/Likely benign	Premature ovarian failure;not specified	RCV000339661;RCV000127226	MedGen;SNOMED CT	C0085215;237788002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1208179
Clinvar_Rec_13193	rs794727802	Uncertain significance	Pitt-Hopkins-like syndrome 1;not provided	RCV000799552;RCV000179475	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727802
Clinvar_Rec_13194	rs764747425	Uncertain significance	History of neurodevelopmental disorder	RCV000720892	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs764747425
Clinvar_Rec_13195	rs577870607	Uncertain significance	Pitt-Hopkins-like syndrome 1	RCV000460892	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs577870607
Clinvar_Rec_13196	rs758102050	Uncertain significance	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000358102;RCV000328959	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, multiple submitters, no conflicts	tagSNP	rs758102050
Clinvar_Rec_13197	rs371691712	Uncertain significance	Autism 15;Pitt-Hopkins-like syndrome 1;Pitt-Hopkins-like syndrome 1;not provided;not specified	RCV000767938;RCV000468497;RCV000767938;RCV000724077;RCV000187205	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C2677504;612100;MedGen;610042;ORPHA163681;MedGen;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371691712
Clinvar_Rec_13198	rs767478890	Uncertain significance	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000360886;RCV000324746	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs767478890
Clinvar_Rec_13199	rs112483670	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716332;RCV000472060;RCV000153062	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112483670
Clinvar_Rec_13200	rs545175315	Uncertain significance	Autism 15;Pitt-Hopkins-like syndrome 1;Pitt-Hopkins-like syndrome 1;not provided	RCV000765936;RCV000689711;RCV000765936;RCV000487299	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C2677504;612100;MedGen;610042;ORPHA163681;MedGen;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs545175315
Clinvar_Rec_13201	rs541853843	Uncertain significance	History of neurodevelopmental disorder	RCV000718710	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs541853843
Clinvar_Rec_13202	rs368108883	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided	RCV000718353;RCV000175460	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs368108883
Clinvar_Rec_13203	rs372351365	Uncertain significance	Pitt-Hopkins-like syndrome 1;not provided	RCV000815742;RCV000489306	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs372351365
Clinvar_Rec_13204	rs373566502	Uncertain significance	Pitt-Hopkins-like syndrome 1	RCV000557887	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs373566502
Clinvar_Rec_13205	rs139930720	Uncertain significance	Pitt-Hopkins-like syndrome 1;not provided	RCV000824329;RCV000187224	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139930720
Clinvar_Rec_13206	rs763106283	Likely benign	Pitt-Hopkins-like syndrome 1	RCV000644744	MedGen;OMIM;Orphanet	C2750246;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs763106283
Clinvar_Rec_13207	rs3058181	Benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000276884;RCV000362305	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs3058181
Clinvar_Rec_13208	rs201123633	Uncertain significance	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000343766;RCV000309815	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	LD derived	rs76977336
Clinvar_Rec_13209	rs17170999	Benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000291129;RCV000343862	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs17170999
Clinvar_Rec_13210	rs2530311	Benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000394541;RCV000281772	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	tagSNP	rs2530311
Clinvar_Rec_13211	rs2530311	Benign	Pitt-Hopkins-like syndrome;Pitt-Hopkins-like syndrome 1	RCV000334512;RCV000379277	MedGen;Orphanet;OMIM;Orphanet	C4751168;ORPHA221150;MedGen;610042;ORPHA163681	criteria provided, single submitter	LD derived	rs1062072
Clinvar_Rec_13212	rs41313746	Likely benign	Long QT syndrome	RCV000281043	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs41313746
Clinvar_Rec_13213	rs1449906095	Uncertain significance	Long QT syndrome	RCV000538863	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1449906095
Clinvar_Rec_13214	rs1805123	Benign/Likely benign	Arrhythmia;Atrial fibrillation;Cardiovascular phenotype;Long QT syndrome;not provided;not specified	RCV000771048;RCV000171815;RCV000249181;RCV000276195;RCV000058152;RCV000223864	EFO;Human Phenotype Ontology;MedGen;SNOMED CT;Human Phenotype Ontology;MedGen;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006;EFO;HP;C0004238;MedGen;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1805123
Clinvar_Rec_13215	rs1554424620	Pathogenic	Cardiovascular phenotype	RCV000620946	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554424620
Clinvar_Rec_13216	rs376008424	Likely benign	Arrhythmia	RCV000774393	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006	criteria provided, single submitter	tagSNP	rs376008424
Clinvar_Rec_13217	rs546898924	Conflicting interpretations of pathogenicity	Arrhythmia;not specified	RCV000778033;RCV000181731	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004269;HP;C0855329;248650006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs546898924
Clinvar_Rec_13218	rs886062089	Uncertain significance	Long QT syndrome	RCV000351271	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs886062089
Clinvar_Rec_13219	rs587777907	Pathogenic	Long QT syndrome 2	RCV000144957	MedGen;OMIM	C3150943;613688	no assertion criteria provided	tagSNP	rs587777907
Clinvar_Rec_13220	rs199472869	Uncertain significance	Congenital long QT syndrome;Long QT syndrome;not provided	RCV000058245;RCV000690929;RCV000786144	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	C1141890;ORPHA768;442917000;MeSH;C0023976;9651007;MedGen	criteria provided, single submitter	tagSNP	rs199472869
Clinvar_Rec_13221	rs148483769	Uncertain significance	Long QT syndrome	RCV000631570	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs148483769
Clinvar_Rec_13222	rs1060500670	Pathogenic	Long QT syndrome	RCV000477231	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs1060500670
Clinvar_Rec_13223	rs794728353	Uncertain significance	Long QT syndrome 2;not provided	RCV000238963;RCV000181755	MedGen;OMIM	C3150943;613688;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728353
Clinvar_Rec_13224	rs199472863	Uncertain significance	Congenital long QT syndrome;Long QT syndrome	RCV000058232;RCV000688920	MedGen;Orphanet;SNOMED CT;MedGen;SNOMED CT	C1141890;ORPHA768;442917000;MeSH;C0023976;9651007	criteria provided, single submitter	tagSNP	rs199472863
Clinvar_Rec_13225	rs1554493872	Uncertain significance	Holoprosencephaly 3	RCV000534234	MedGen;OMIM	C1840529;142945	criteria provided, single submitter	tagSNP	rs1554493872
Clinvar_Rec_13226	rs104894049	Pathogenic	Solitary median maxillary central incisor syndrome	RCV000009440	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C1840235;147250;ORPHA2286	no assertion criteria provided	tagSNP	rs104894049
Clinvar_Rec_13227	rs748645101	Pathogenic	Short-rib polydactyly syndrome type III	RCV000516000	MedGen;Orphanet	C0432197;ORPHA93271	no assertion criteria provided	tagSNP	rs748645101
Clinvar_Rec_13228	rs185506130	Uncertain significance	Congenital Muscular Dystrophy, alpha-dystroglycan related	RCV000294677	MedGen	CN239202	criteria provided, single submitter	tagSNP	rs185506130
Clinvar_Rec_13229	rs886062151	Uncertain significance	Congenital Muscular Dystrophy, alpha-dystroglycan related	RCV000386326	MedGen	CN239202	criteria provided, single submitter	tagSNP	rs886062151
Clinvar_Rec_13230	rs78791023	Likely benign	Congenital Muscular Dystrophy, alpha-dystroglycan related	RCV000279803	MedGen	CN239202	criteria provided, single submitter	tagSNP	rs78791023
Clinvar_Rec_13231	rs397515398	Conflicting interpretations of pathogenicity	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;not provided	RCV000024272;RCV000688977;RCV000503716;RCV000688977;RCV000300802	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C3553330;614643;MedGen;614643;MedGen;ORPHA370953;MedGen;616052;ORPHA352479;MedGen	criteria provided, conflicting interpretations	tagSNP	rs397515398
Clinvar_Rec_13232	rs72655984	Uncertain significance	Primary ciliary dyskinesia	RCV000321749	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs72655984
Clinvar_Rec_13233	rs72655984	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000266584;RCV000858196;RCV000245838	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs72655984
Clinvar_Rec_13234	rs72655987	Likely benign	Primary ciliary dyskinesia	RCV000228954	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs72655987
Clinvar_Rec_13235	rs117830543	Uncertain significance	Primary ciliary dyskinesia	RCV000339106	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	tagSNP	rs117830543
Clinvar_Rec_13236	rs72657316	Pathogenic	Primary ciliary dyskinesia	RCV000218593	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs72657316
Clinvar_Rec_13237	rs1109806	Uncertain significance	Primary ciliary dyskinesia	RCV000629397	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1109806
Clinvar_Rec_13238	rs1109806	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000314436;RCV000860116;RCV000150443	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1109806
Clinvar_Rec_13239	rs182808328	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000292972;RCV000861109	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182808328
Clinvar_Rec_13240	rs201944089	Uncertain significance	Ciliary dyskinesia, primary, 7;Primary ciliary dyskinesia	RCV000764703;RCV000229707	MedGen;OMIM;MedGen;Orphanet	C2678473;611884;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	tagSNP	rs201944089
Clinvar_Rec_13241	rs141112088	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided	RCV000232174;RCV000857488	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141112088
Clinvar_Rec_13242	rs1283113333	Uncertain significance	Primary ciliary dyskinesia	RCV000703183	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1283113333
Clinvar_Rec_13243	rs886062183	Uncertain significance	Primary ciliary dyskinesia	RCV000306746	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs886062183
Clinvar_Rec_13244	rs1309805676	Pathogenic/Likely pathogenic	Primary ciliary dyskinesia;not provided	RCV001041829;RCV000760669	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1309805676
Clinvar_Rec_13245	rs186794216	Uncertain significance	Primary ciliary dyskinesia	RCV000629455	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs186794216
Clinvar_Rec_13246	rs777783731	Uncertain significance	Primary ciliary dyskinesia	RCV000703406	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs777783731
Clinvar_Rec_13247	rs77448980	Benign/Likely benign	Primary ciliary dyskinesia;not provided;not specified	RCV000385850;RCV000857367;RCV000150461	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77448980
Clinvar_Rec_13248	rs11764386	Benign	Hypomyelination and Congenital Cataract	RCV000319011	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs34683819
Clinvar_Rec_13249	rs11764386	Benign	Hypomyelination and Congenital Cataract	RCV000315359	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs13222017
Clinvar_Rec_13250	rs11764386	Benign	Hypomyelination and Congenital Cataract	RCV000385752	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	LD derived	rs10488277
Clinvar_Rec_13251	rs886062210	Uncertain significance	Hypomyelination and Congenital Cataract	RCV000310764	MedGen;OMIM;Orphanet;SNOMED CT	C1864663;610532;ORPHA85163;702379005	criteria provided, single submitter	tagSNP	rs886062210
Clinvar_Rec_13252	rs115865539	Likely benign	Nonsyndromic Hearing Loss, Mixed	RCV000355586	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs115865539
Clinvar_Rec_13253	rs376564087	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000270022	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs376564087
Clinvar_Rec_13254	rs191022542	Uncertain significance	Nonsyndromic Hearing Loss, Mixed	RCV000390510	MedGen	CN239440	criteria provided, single submitter	tagSNP	rs191022542
Clinvar_Rec_13255	rs752896589	Uncertain significance	History of neurodevelopmental disorder	RCV000719680	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs752896589
Clinvar_Rec_13256	rs576321273	Uncertain significance	Bosley-Salih-Alorainy syndrome	RCV000294392	MedGen;Orphanet	C1832216;ORPHA69737	criteria provided, single submitter	LD derived	rs528003903
Clinvar_Rec_13257	rs780902152	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000552423	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs780902152
Clinvar_Rec_13258	rs1562784262	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000686991	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1562784262
Clinvar_Rec_13259	rs886062285	Uncertain significance	Bardet-Biedl syndrome	RCV000347146	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs886062285
Clinvar_Rec_13260	rs200704561	Uncertain significance	Cardiovascular phenotype	RCV000617764	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs200704561
Clinvar_Rec_13261	rs5883809	Uncertain significance	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly	RCV000275792;RCV000386580;RCV000329769	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006	criteria provided, single submitter	tagSNP	rs5883809
Clinvar_Rec_13262	rs5883809	Uncertain significance	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly	RCV000272370;RCV000364747;RCV000307719	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006	criteria provided, single submitter	tagSNP	rs5883809
Clinvar_Rec_13263	rs199875457	Conflicting interpretations of pathogenicity	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not provided	RCV000267903;RCV000307954;RCV000362619;RCV000354909	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199875457
Clinvar_Rec_13264	rs1057518698	Pathogenic	Postaxial polydactyly type A1	RCV000415028	MedGen;OMIM	C4282400;174200	no assertion criteria provided	tagSNP	rs1057518698
Clinvar_Rec_13265	rs113629469	Likely benign	Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly	RCV000309892;RCV000401190;RCV000364615	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;Orphanet;SNOMED CT	C0265306;175700;ORPHA380;32985001;MedGen;146510;ORPHA672;56677004;Human Phenotype Ontology;C0152427;603596;ORPHA2913;367506006	criteria provided, single submitter	tagSNP	rs113629469
Clinvar_Rec_13266	rs140230479	Likely benign	Glycogen storage disease type X;not provided	RCV000509297;RCV000960611	MedGen;OMIM;Orphanet;SNOMED CT	C0268149;261670;ORPHA97234;37666005;MedGen	criteria provided, single submitter	tagSNP	rs140230479
Clinvar_Rec_13267	rs104894008	Pathogenic	Maturity-onset diabetes of the young, type 2;not provided	RCV000017515;RCV000426797	MedGen;OMIM	C1841962;125851;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104894008
Clinvar_Rec_13268	rs193922295	Likely pathogenic	Maturity-onset diabetes of the young, type 2	RCV000029879	MedGen;OMIM	C1841962;125851	criteria provided, single submitter	tagSNP	rs193922295
Clinvar_Rec_13269	rs193922289	Pathogenic	Maturity-onset diabetes of the young, type 2;not provided	RCV000029872;RCV000255585	MedGen;OMIM	C1841962;125851;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs193922289
Clinvar_Rec_13270	rs1562882049	Pathogenic/Likely pathogenic	Cerebral cavernous malformations 2;not provided	RCV001049222;RCV000721773	MedGen;OMIM	C1864041;603284;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1562882049
Clinvar_Rec_13271	rs587778252	Uncertain significance	EGFR-related lung cancer;not specified	RCV001044048;RCV000120701	MedGen	CN130014;MedGen	criteria provided, single submitter	tagSNP	rs587778252
Clinvar_Rec_13272	rs147149347	Uncertain significance	EGFR-related lung cancer;Lung cancer	RCV001066254;RCV000206947	MedGen;OMIM;SNOMED CT	CN130014;MedGen;211980;187875007	criteria provided, single submitter	tagSNP	rs147149347
Clinvar_Rec_13273	rs397517111	Pathogenic	Non-small cell lung cancer	RCV000038413	Human Phenotype Ontology;MeSH;MedGen;SNOMED CT	HP;D002289;C0007131;254637007	no assertion criteria provided	tagSNP	rs397517111
Clinvar_Rec_13274	rs727503013	drug response	Tyrosine kinase inhibitor response	RCV000154617	MedGen	CN225347	criteria provided, single submitter	tagSNP	rs727503013
Clinvar_Rec_13275	rs1554350351	drug response	Tyrosine kinase inhibitor response	RCV000150624	MedGen	CN225347	no assertion criteria provided	tagSNP	rs1554350351
Clinvar_Rec_13276	rs1554350351	drug response	Tyrosine kinase inhibitor response	RCV000154251	MedGen	CN225347	no assertion criteria provided	tagSNP	rs1554350351
Clinvar_Rec_13277	rs727503021	drug response	Tyrosine kinase inhibitor response	RCV000150626	MedGen	CN225347	criteria provided, single submitter	tagSNP	rs727503021
Clinvar_Rec_13278	rs371228501	Uncertain significance	EGFR-related lung cancer;not specified	RCV001049099;RCV000038432	MedGen	CN130014;MedGen	criteria provided, single submitter	tagSNP	rs371228501
Clinvar_Rec_13279	rs559141278	Uncertain significance	EGFR-related lung cancer;Hereditary cancer	RCV001071489;RCV000709023	MedGen	CN130014;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35918369
Clinvar_Rec_13280	rs886062390	Uncertain significance	Deficiency of phosphoserine phosphatase	RCV000356416	MedGen;OMIM;Orphanet;SNOMED CT	C1291463;614023;ORPHA79350;124432005	criteria provided, single submitter	tagSNP	rs886062390
Clinvar_Rec_13281	rs557549042	Conflicting interpretations of pathogenicity	Mucopolysaccharidosis type 7;not provided;not specified	RCV000267693;RCV000877397;RCV000178059	MedGen;OMIM;Orphanet	C0085132;253220;ORPHA584;MedGen	criteria provided, conflicting interpretations	LD derived	rs537957979
Clinvar_Rec_13282	rs1268519003	Likely pathogenic	Argininosuccinate lyase deficiency	RCV000669012	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004	criteria provided, single submitter	tagSNP	rs1268519003
Clinvar_Rec_13283	rs761651320	Pathogenic	Argininosuccinate lyase deficiency;not provided	RCV000588753;RCV000489563	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761651320
Clinvar_Rec_13284	rs763407938	Likely pathogenic	Argininosuccinate lyase deficiency	RCV000673588	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004	criteria provided, single submitter	tagSNP	rs763407938
Clinvar_Rec_13285	rs1554328202	Uncertain significance	Argininosuccinate lyase deficiency	RCV000673583	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004	criteria provided, single submitter	tagSNP	rs1554328202
Clinvar_Rec_13286	rs3764904	Benign/Likely benign	Progressive myoclonic epilepsy;Seizures;not provided;not specified	RCV000263469;RCV000715165;RCV000675797;RCV000117376	MedGen;Orphanet;SNOMED CT;MedGen	C0751778;ORPHA98261;267581004;Human Phenotype Ontology;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3764904
Clinvar_Rec_13287	rs765576236	Uncertain significance	Progressive myoclonic epilepsy	RCV000387202	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs765576236
Clinvar_Rec_13288	rs886062422	Uncertain significance	Progressive myoclonic epilepsy	RCV000306343	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	tagSNP	rs886062422
Clinvar_Rec_13289	rs60972148	Likely benign	Progressive myoclonic epilepsy	RCV000387039	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004	criteria provided, single submitter	LD derived	rs73133851
Clinvar_Rec_13290	rs1554489359	Uncertain significance	Inborn genetic diseases	RCV000622862	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554489359
Clinvar_Rec_13291	rs766735416	Uncertain significance	Aortic root dilatation;Bruising susceptibility;Colorectal polyposis;Dilatation of the sinus of Valsalva;Gastrointestinal carcinoma;Inguinal hernia;Prominent superficial blood vessels;Varicose veins	RCV000626795;RCV000626795;RCV000626795;RCV000626795;RCV000626795;RCV000626795;RCV000626795;RCV000626795	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;MedGen;OMIM	HP;C1298820;Human Phenotype Ontology;C0423798;Human Phenotype Ontology;C0949059;Human Phenotype Ontology;C4476551;Human Phenotype Ontology;C0151544;Human Phenotype Ontology;C0019294;Human Phenotype Ontology;C1848771;Human Phenotype Ontology;C0042345;192200	criteria provided, single submitter	tagSNP	rs766735416
Clinvar_Rec_13292	rs200041224	Uncertain significance	Supravalvar aortic stenosis	RCV000547969	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0003499;185500;ORPHA3193;268185002	criteria provided, single submitter	tagSNP	rs200041224
Clinvar_Rec_13293	rs180683888	Conflicting interpretations of pathogenicity	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;not provided	RCV000386892;RCV000886835	MedGen;OMIM;Orphanet	C3150099;201750;ORPHA63269;MedGen	criteria provided, conflicting interpretations	tagSNP	rs180683888
Clinvar_Rec_13294	rs1058872	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;Distal hereditary motor neuronopathy;not specified	RCV000407612;RCV000352277;RCV000243098	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1058872
Clinvar_Rec_13295	rs56381858	Uncertain significance	Platelet glycoprotein IV deficiency	RCV000779539	MedGen;OMIM	C1842090;608404	criteria provided, single submitter	tagSNP	rs56381858
Clinvar_Rec_13296	rs1554327285	Uncertain significance	Brugada syndrome	RCV000638652	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs1554327285
Clinvar_Rec_13297	rs192741898	Uncertain significance	Brugada syndrome	RCV000473414	MedGen;Orphanet;SNOMED CT	C1142166;ORPHA130;418818005	criteria provided, single submitter	tagSNP	rs192741898
Clinvar_Rec_13298	rs1554333968	Likely benign	Cardiovascular phenotype	RCV000617955	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554333968
Clinvar_Rec_13299	rs771976054	Uncertain significance	CHARGE association	RCV000700496	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs771976054
Clinvar_Rec_13300	rs886062468	Uncertain significance	Long QT syndrome;Romano-Ward syndrome	RCV000311262;RCV000399538	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007	criteria provided, single submitter	tagSNP	rs886062468
Clinvar_Rec_13301	rs140664656	Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000248212;RCV000863479;RCV000376422	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140664656
Clinvar_Rec_13302	rs1554426900	Uncertain significance	Cardiovascular phenotype	RCV000620615	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1554426900
Clinvar_Rec_13303	rs786205707	Conflicting interpretations of pathogenicity	Ventricular fibrillation;not provided	RCV000208405;RCV000525443	EFO;Human Phenotype Ontology;MedGen;SNOMED CT	EFO_0004287;HP;C0042510;71908006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs786205707
Clinvar_Rec_13304	rs772669837	Uncertain significance	Long QT syndrome;not provided	RCV001055422;RCV000658388	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs772669837
Clinvar_Rec_13305	rs147772200	Uncertain significance	Long QT syndrome	RCV000464491	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007	criteria provided, single submitter	tagSNP	rs147772200
Clinvar_Rec_13306	rs147841245	Uncertain significance	Long QT syndrome;Romano-Ward syndrome;not provided	RCV000337725;RCV000294466;RCV000506888	MeSH;MedGen;SNOMED CT;Orphanet;SNOMED CT	D008133;C0023976;9651007;MedGen;ORPHA101016;20852007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147841245
Clinvar_Rec_13307	rs150579291	Uncertain significance	Cardiovascular phenotype	RCV000617444	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs150579291
Clinvar_Rec_13308	rs150579291	Uncertain significance	Cardiovascular phenotype	RCV000620708	MedGen	CN230736	criteria provided, single submitter	LD derived	rs142632541
Clinvar_Rec_13309	rs756495468	Likely benign	Cardiovascular phenotype;not provided	RCV000619402;RCV000869641	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756495468
Clinvar_Rec_13310	rs936516286	Uncertain significance	Long QT syndrome;not provided	RCV000631717;RCV000786088	MeSH;MedGen;SNOMED CT	D008133;C0023976;9651007;MedGen	criteria provided, single submitter	tagSNP	rs936516286
Clinvar_Rec_13311	rs149754162	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Long QT syndrome 11;not provided	RCV000251693;RCV000477753;RCV000170641	MedGen;OMIM	CN230736;MedGen;611820;MedGen	criteria provided, conflicting interpretations	LD derived	rs148920964
Clinvar_Rec_13312	rs117893851	Benign	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000380113;RCV000676106;RCV000078920	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs10278857
Clinvar_Rec_13313	rs1473858573	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000633315	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs1473858573
Clinvar_Rec_13314	rs1562846113	Pathogenic	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000680063	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs1562846113
Clinvar_Rec_13315	rs145430946	Conflicting interpretations of pathogenicity	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000356824;RCV000859827;RCV000078921	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145430946
Clinvar_Rec_13316	rs1357462196	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger);not provided	RCV000671695;RCV000735182	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1357462196
Clinvar_Rec_13317	rs771224088	Uncertain significance	Deafness enamel hypoplasia nail defects;Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B;not provided	RCV000764732;RCV000764732;RCV000764732;RCV000597790	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet	C4551980;234580;MedGen;214100;ORPHA912;MedGen;601539;ORPHA772;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771224088
Clinvar_Rec_13318	rs200278401	Benign	Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I	RCV000557540;RCV000557540	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs200278401
Clinvar_Rec_13319	rs200278401	Uncertain significance	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2;Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form;Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, recessive perinatal lethal;Postmenopausal osteoporosis	RCV000764733;RCV000764733;RCV000631529;RCV000631529;RCV000764733;RCV000764733;RCV000764733;RCV000764733	MedGen;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	CN706304;617821;MedGen;225320;MedGen;130000;ORPHA287;20766005;83470009;MedGen;166200;ORPHA216796;385482004;MedGen;259420;ORPHA216812;385483009;MedGen;166220;ORPHA216820;205497004;MedGen;166210;ORPHA216804;86470003;MedGen;166710;102447009	criteria provided, multiple submitters, no conflicts	tagSNP	rs200278401
Clinvar_Rec_13320	rs1800222	Benign	Ehlers-Danlos syndrome, procollagen proteinase deficient;Osteogenesis Imperfecta, Dominant;not specified	RCV000318261;RCV000375392;RCV000251681	MedGen;OMIM;Orphanet;SNOMED CT	C4551623;130060;ORPHA1899;55711009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800222
Clinvar_Rec_13321	rs773531358	Uncertain significance	Myoclonic dystonia	RCV000541960	MedGen;OMIM;Orphanet;SNOMED CT	C1834570;159900;ORPHA36899;439732004	criteria provided, single submitter	tagSNP	rs773531358
Clinvar_Rec_13322	rs854560	association, risk factor	Coronary artery disease, susceptibility to;Enzyme activity finding;Microvascular complications of diabetes 5	RCV000014742;RCV000133465;RCV000014743	MedGen;SNOMED CT;OMIM	C1840169;MedGen;424017009;MedGen;612633	no assertion criteria provided	tagSNP	rs854560
Clinvar_Rec_13323	rs1562940289	Pathogenic	DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM	RCV000785653	MedGen;OMIM	CN259075;618454	no assertion criteria provided	tagSNP	rs1562940289
Clinvar_Rec_13324	rs369459721	Pathogenic	Spastic paraplegia 50, autosomal recessive;not provided	RCV000680158;RCV001008671	MedGen;OMIM	C2752008;612936;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs369459721
Clinvar_Rec_13325	rs151198873	Uncertain significance	Hereditary hemochromatosis;not provided	RCV000552574;RCV000301344	MedGen;SNOMED CT	C0392514;35400008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs151198873
Clinvar_Rec_13326	rs1562848909	Likely pathogenic	ACTL6B-related recessive epilepsy;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	RCV001028089;RCV000785973	na;MedGen;OMIM	CN260164;618468	criteria provided, single submitter	tagSNP	rs1562848909
Clinvar_Rec_13327	rs542352292	Conflicting interpretations of pathogenicity	Lissencephaly, Recessive;not specified	RCV000366507;RCV000430850	MedGen	CN239458;MedGen	criteria provided, conflicting interpretations	tagSNP	rs542352292
Clinvar_Rec_13328	rs779803541	Uncertain significance	Epilepsy, familial temporal lobe, 7;not provided	RCV001060418;RCV000319445	MedGen;OMIM	C4225327;616436;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs779803541
Clinvar_Rec_13329	rs1487716758	Uncertain significance	Epilepsy, familial temporal lobe, 7	RCV000703888	MedGen;OMIM	C4225327;616436	criteria provided, single submitter	tagSNP	rs1487716758
Clinvar_Rec_13330	rs375118721	Conflicting interpretations of pathogenicity	Lissencephaly, Recessive;not provided	RCV000337712;RCV000549610	MedGen	CN239458;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375118721
Clinvar_Rec_13331	rs1230772547	Uncertain significance	Epilepsy, familial temporal lobe, 7	RCV000653026	MedGen;OMIM	C4225327;616436	criteria provided, single submitter	tagSNP	rs1230772547
Clinvar_Rec_13332	rs55642448	Benign	Occult macular dystrophy	RCV000392068	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs55642448
Clinvar_Rec_13333	rs886062581	Uncertain significance	Occult macular dystrophy	RCV000341373	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs886062581
Clinvar_Rec_13334	rs200519322	Likely benign	Occult macular dystrophy	RCV000390401	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs200519322
Clinvar_Rec_13335	rs763480431	Uncertain significance	Occult macular dystrophy	RCV000393932	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs763480431
Clinvar_Rec_13336	rs371519198	Likely benign	Occult macular dystrophy	RCV000398785	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs371519198
Clinvar_Rec_13337	rs146670053	Likely benign	Occult macular dystrophy	RCV000319576	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs146670053
Clinvar_Rec_13338	rs146670053	Likely benign	Occult macular dystrophy	RCV000271187	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	LD derived	rs201357374
Clinvar_Rec_13339	rs760621847	Uncertain significance	Occult macular dystrophy	RCV000374340	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs760621847
Clinvar_Rec_13340	rs778222700	Uncertain significance	Occult macular dystrophy	RCV000380236	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs778222700
Clinvar_Rec_13341	rs201785951	Likely benign	Occult macular dystrophy	RCV000347319	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs201785951
Clinvar_Rec_13342	rs367930443	Uncertain significance	Occult macular dystrophy	RCV000399639	MedGen;OMIM;Orphanet	C3150833;613587;ORPHA247834	criteria provided, single submitter	tagSNP	rs367930443
Clinvar_Rec_13343	rs545467995	Conflicting interpretations of pathogenicity	Maturity onset diabetes mellitus in young;not specified	RCV000319404;RCV000504164	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007;MedGen	criteria provided, conflicting interpretations	LD derived	rs77401687
Clinvar_Rec_13344	rs139210041	Uncertain significance	Maturity onset diabetes mellitus in young	RCV000294577	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0342276;606391;ORPHA552;28453007	criteria provided, single submitter	tagSNP	rs139210041
Clinvar_Rec_13345	rs800899	Benign	Trichorhinophalangeal Syndrome	RCV000394251	MedGen;Orphanet	C0265255;ORPHA324764	criteria provided, single submitter	tagSNP	rs800899
Clinvar_Rec_13346	rs199732237	Benign/Likely benign	Trichorhinophalangeal Syndrome;not provided	RCV000345612;RCV000945637	MedGen;Orphanet	C0265255;ORPHA324764;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199732237
Clinvar_Rec_13347	rs1554593099	Pathogenic	Trichorhinophalangeal dysplasia type I	RCV000505359	MedGen;OMIM;SNOMED CT	C0432233;190350;254091006	no assertion criteria provided	tagSNP	rs1554593099
Clinvar_Rec_13348	rs11573942	Conflicting interpretations of pathogenicity	Hyperphosphatasemia with bone disease;not provided;not specified	RCV000303582;RCV000969993;RCV000178868	MedGen;OMIM;Orphanet;SNOMED CT	C0268414;239000;ORPHA2801;9723006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs11573942
Clinvar_Rec_13349	rs146830560	Likely benign	Benign Neonatal Epilepsy;Benign familial neonatal seizures	RCV000311057;RCV000406298	MedGen;Orphanet	C0270851;MedGen;ORPHA1949	criteria provided, single submitter	tagSNP	rs146830560
Clinvar_Rec_13350	rs776429452	Uncertain significance	Primary ciliary dyskinesia	RCV000349818	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs776429452
Clinvar_Rec_13351	rs769220870	Conflicting interpretations of pathogenicity	Ciliary dyskinesia, primary, 19	RCV000650325	MedGen;OMIM	C3543826;614935	criteria provided, conflicting interpretations	tagSNP	rs769220870
Clinvar_Rec_13352	rs151134187	Uncertain significance	Thyroid dyshormonogenesis	RCV000373691	MedGen	C0342191	criteria provided, single submitter	LD derived	rs112003182
Clinvar_Rec_13353	rs200236155	Uncertain significance	Thyroid dyshormonogenesis	RCV000311184	MedGen	C0342191	criteria provided, single submitter	tagSNP	rs200236155
Clinvar_Rec_13354	rs199724462	Uncertain significance	Thyroid dyshormonogenesis	RCV000271223	MedGen	C0342191	criteria provided, single submitter	tagSNP	rs199724462
Clinvar_Rec_13355	rs73364569	Benign/Likely benign	Charcot-Marie-Tooth disease type 4;not provided;not specified	RCV000460231;RCV000712376;RCV000440717	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2233346
Clinvar_Rec_13356	rs373590447	Uncertain significance	Charcot-Marie-Tooth disease type 4;not provided	RCV001039137;RCV000236447	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373590447
Clinvar_Rec_13357	rs34179337	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided;not specified	RCV000716592;RCV000261001;RCV000956678;RCV000118667	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs34179337
Clinvar_Rec_13358	rs61752801	Likely benign	Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I	RCV000293179;RCV000350476	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0001627;ORPHA418;237751000;MedGen;103900;ORPHA403	criteria provided, single submitter	tagSNP	rs61752801
Clinvar_Rec_13359	rs753774484	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase;not provided	RCV000667365;RCV000516213	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007;MedGen	criteria provided, single submitter	tagSNP	rs753774484
Clinvar_Rec_13360	rs104894061	Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase	RCV000672570	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007	criteria provided, single submitter	tagSNP	rs104894061
Clinvar_Rec_13361	rs104894061	Pathogenic	Deficiency of steroid 11-beta-monooxygenase;not provided	RCV000001232;RCV001066246	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104894061
Clinvar_Rec_13362	rs387907573	Pathogenic/Likely pathogenic	Deficiency of steroid 11-beta-monooxygenase;not provided	RCV000050224;RCV000991870	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387907573
Clinvar_Rec_13363	rs1554652998	Pathogenic	Deficiency of steroid 11-beta-monooxygenase;not provided	RCV000670838;RCV000711405	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554652998
Clinvar_Rec_13364	rs764418169	Pathogenic	Deficiency of steroid 11-beta-monooxygenase;not provided	RCV000667039;RCV000820022	MedGen;OMIM;Orphanet;SNOMED CT	C0268292;202010;ORPHA90795;124214007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs764418169
Clinvar_Rec_13365	rs6410	Benign	Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I	RCV000309802;RCV000396739	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0001627;ORPHA418;237751000;MedGen;103900;ORPHA403	criteria provided, single submitter	tagSNP	rs6410
Clinvar_Rec_13366	rs201951316	Likely benign	Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I;not provided	RCV000304435;RCV000361436;RCV000876416	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0001627;ORPHA418;237751000;MedGen;103900;ORPHA403;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201951316
Clinvar_Rec_13367	rs576148290	Likely benign	Corticosterone methyloxidase type 1 deficiency;Corticosterone methyloxidase type 2 deficiency;Hyperaldosteronism, familial, type I	RCV000355582;RCV000259490;RCV000298335	MedGen;OMIM;OMIM;OMIM;Orphanet	CN074214;203400;MedGen;610600;MedGen;103900;ORPHA403	criteria provided, single submitter	tagSNP	rs576148290
Clinvar_Rec_13368	rs576148290	Likely benign	Corticosterone methyloxidase type 1 deficiency;Corticosterone methyloxidase type 2 deficiency;Hyperaldosteronism, familial, type I	RCV000336638;RCV000404022;RCV000278118	MedGen;OMIM;OMIM;OMIM;Orphanet	CN074214;203400;MedGen;610600;MedGen;103900;ORPHA403	criteria provided, single submitter	LD derived	rs5307
Clinvar_Rec_13369	rs574860225	Conflicting interpretations of pathogenicity	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV000526784;RCV000526784;RCV000526784;RCV000526784;RCV000177718	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, conflicting interpretations	LD derived	rs368212208
Clinvar_Rec_13370	rs1563825893	not provided	Verheij syndrome	RCV000709921	MedGen;OMIM;Orphanet	C3810023;615583;ORPHA508488	no assertion provided	tagSNP	rs1563825893
Clinvar_Rec_13371	rs146819380	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided	RCV001046208;RCV001046208;RCV001046208;RCV001046208;RCV000733547	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs189389994
Clinvar_Rec_13372	rs782768127	Likely pathogenic	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	RCV000521850	MedGen;OMIM;Orphanet	C4540520;617810;ORPHA529665	criteria provided, single submitter	tagSNP	rs782768127
Clinvar_Rec_13373	rs371549305	Uncertain significance	Baller-Gerold syndrome	RCV000543118	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	LD derived	rs549497811
Clinvar_Rec_13374	rs752345868	Uncertain significance	Autosomal recessive non-syndromic intellectual disability	RCV000758207	MedGen;Orphanet	CN236713;ORPHA88616	no assertion criteria provided	tagSNP	rs752345868
Clinvar_Rec_13375	rs563816306	Uncertain significance	Baller-Gerold syndrome	RCV000688352	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs563816306
Clinvar_Rec_13376	rs765804620	Uncertain significance	Baller-Gerold syndrome	RCV000469220	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs765804620
Clinvar_Rec_13377	rs1478532229	Likely benign	Baller-Gerold syndrome	RCV000527334	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs1478532229
Clinvar_Rec_13378	rs372741479	Uncertain significance	Baller-Gerold syndrome	RCV000460377	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs372741479
Clinvar_Rec_13379	rs972715381	Uncertain significance	Baller-Gerold syndrome	RCV000701264	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs972715381
Clinvar_Rec_13380	rs550470182	Uncertain significance	Baller-Gerold syndrome	RCV000234740	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	tagSNP	rs550470182
Clinvar_Rec_13381	rs1563154271	Uncertain significance	Congenital disorder of glycosylation	RCV000779555	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs1563154271
Clinvar_Rec_13382	rs77246198	Uncertain significance	Congenital disorder of glycosylation	RCV000325297	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs77246198
Clinvar_Rec_13383	rs77246198	Uncertain significance	Congenital disorder of glycosylation	RCV000330470	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	LD derived	rs113086911
Clinvar_Rec_13384	rs886062775	Uncertain significance	Congenital disorder of glycosylation	RCV000289852	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs886062775
Clinvar_Rec_13385	rs749390229	Uncertain significance	Hyperlipoproteinemia, type I	RCV000299093	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0023817;238600;ORPHA309015;238086005;275598004	criteria provided, single submitter	tagSNP	rs749390229
Clinvar_Rec_13386	rs118204069	Pathogenic	Hyperlipoproteinemia, type I	RCV000001605	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0023817;238600;ORPHA309015;238086005;275598004	no assertion criteria provided	tagSNP	rs118204069
Clinvar_Rec_13387	rs76436208	Likely benign	Alopecia universalis;Atrichia with papular lesions	RCV000282467;RCV000337457	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0263505;ORPHA701;86166000;MedGen;209500;ORPHA86819	criteria provided, single submitter	tagSNP	rs76436208
Clinvar_Rec_13388	rs777189827	Uncertain significance	Alopecia universalis;Atrichia with papular lesions	RCV000307860;RCV000390759	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	HP;C0263505;ORPHA701;86166000;MedGen;209500;ORPHA86819	criteria provided, single submitter	tagSNP	rs777189827
Clinvar_Rec_13389	rs140092629	Conflicting interpretations of pathogenicity	Osteogenesis Imperfecta, Recessive;not provided;not specified	RCV000305191;RCV000900084;RCV000612462	MedGen	CN239451;MedGen	criteria provided, conflicting interpretations	tagSNP	rs140092629
Clinvar_Rec_13390	rs550727329	Uncertain significance	Conotruncal heart malformations	RCV000691378	MedGen;OMIM;Orphanet	C1857586;217095;ORPHA2445	criteria provided, single submitter	LD derived	rs534202593
Clinvar_Rec_13391	rs576577900	Uncertain significance	Conotruncal heart malformations	RCV000557665	MedGen;OMIM;Orphanet	C1857586;217095;ORPHA2445	criteria provided, single submitter	tagSNP	rs576577900
Clinvar_Rec_13392	rs587777888	Uncertain significance	Charcot-Marie-Tooth disease type 2E	RCV000697171	MedGen;OMIM;Orphanet	C1843225;607684;ORPHA99939	criteria provided, single submitter	tagSNP	rs587777888
Clinvar_Rec_13393	rs587777888	Uncertain significance	Charcot-Marie-Tooth disease type 2E;not provided	RCV000205727;RCV000143809	MedGen;OMIM;Orphanet	C1843225;607684;ORPHA99939;MedGen	criteria provided, single submitter	tagSNP	rs587777888
Clinvar_Rec_13394	rs55726427	Likely benign	Nocturnal frontal lobe epilepsy	RCV000359193	MedGen	C4313718	criteria provided, single submitter	tagSNP	rs55726427
Clinvar_Rec_13395	rs200169079	Uncertain significance	Werner syndrome	RCV000633189	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs200169079
Clinvar_Rec_13396	rs3087425	Benign	Werner syndrome;not provided;not specified	RCV000032137;RCV000858415;RCV000122280	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3087425
Clinvar_Rec_13397	rs755249893	Uncertain significance	Werner syndrome	RCV000560064	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs755249893
Clinvar_Rec_13398	rs886062889	Uncertain significance	Werner syndrome	RCV000401378	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, multiple submitters, no conflicts	tagSNP	rs886062889
Clinvar_Rec_13399	rs886062890	Uncertain significance	Werner syndrome	RCV000305051	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs886062890
Clinvar_Rec_13400	rs878854136	Pathogenic	Werner syndrome	RCV000229897	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs878854136
Clinvar_Rec_13401	rs201188293	Uncertain significance	Werner syndrome	RCV000693832	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs201188293
Clinvar_Rec_13402	rs201188293	Uncertain significance	Werner syndrome	RCV000688409	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs201188293
Clinvar_Rec_13403	rs1478141798	Uncertain significance	Werner syndrome	RCV000633229	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs1478141798
Clinvar_Rec_13404	rs780229859	Uncertain significance	Werner syndrome	RCV000687221	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs780229859
Clinvar_Rec_13405	rs369232492	Likely pathogenic	Cholesterol monooxygenase (side-chain cleaving) deficiency	RCV000665326	MedGen;OMIM;Orphanet;SNOMED CT	C0342474;201710;ORPHA90790;44231009	criteria provided, single submitter	tagSNP	rs369232492
Clinvar_Rec_13406	rs1563268652	Pathogenic	Cholesterol monooxygenase (side-chain cleaving) deficiency;not provided	RCV000009561;RCV000713525	MedGen;OMIM;Orphanet;SNOMED CT	C0342474;201710;ORPHA90790;44231009;MedGen	criteria provided, single submitter	tagSNP	rs1563268652
Clinvar_Rec_13407	rs398122837	Pathogenic	Spastic paraplegia 54, autosomal recessive	RCV000076918	MedGen;OMIM;Orphanet	C3539495;615033;ORPHA320380	no assertion criteria provided	tagSNP	rs398122837
Clinvar_Rec_13408	rs201656753	Uncertain significance	Spastic paraplegia 54, autosomal recessive	RCV000650280	MedGen;OMIM;Orphanet	C3539495;615033;ORPHA320380	criteria provided, single submitter	tagSNP	rs201656753
Clinvar_Rec_13409	rs1554548253	Pathogenic	Hartsfield syndrome	RCV000614143	MedGen;OMIM;Orphanet	C1845146;615465;ORPHA2117	criteria provided, single submitter	tagSNP	rs1554548253
Clinvar_Rec_13410	rs886037634	Pathogenic	Hypogonadotropic hypogonadism 2 with anosmia;not provided	RCV000043588;RCV000319353	MedGen	C4016104;MedGen	criteria provided, single submitter	tagSNP	rs886037634
Clinvar_Rec_13411	rs886062920	Conflicting interpretations of pathogenicity	Craniosynostosis;Hypogonadism with anosmia;Nonsyndromic Trigonocephaly;Osteoglophonic dysplasia;Pfeiffer syndrome;not provided	RCV000350262;RCV000362873;RCV000404923;RCV000395523;RCV000310483;RCV000875723	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet	HP;C1849943;MedGen;ORPHA478;93559003;MedGen;166250;ORPHA2645;254144002;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886062920
Clinvar_Rec_13412	rs201823433	Likely benign	Craniosynostosis;Hypogonadism with anosmia;Nonsyndromic Trigonocephaly;Osteoglophonic dysplasia;Pfeiffer syndrome	RCV000366421;RCV000369735;RCV000270450;RCV000307070;RCV000315087	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet	HP;C1849943;MedGen;ORPHA478;93559003;MedGen;166250;ORPHA2645;254144002;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259	criteria provided, single submitter	tagSNP	rs201823433
Clinvar_Rec_13413	rs113649109	Benign/Likely benign	Cone-Rod Dystrophy, Recessive;not provided	RCV000282248;RCV000830862	MedGen	CN239309;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113649109
Clinvar_Rec_13414	rs761133472	Uncertain significance	Spherocytosis, Dominant	RCV000322604	MedGen	CN239455	criteria provided, single submitter	tagSNP	rs761133472
Clinvar_Rec_13415	rs545413188	Likely benign	Dystonia	RCV000273173	Human Phenotype Ontology;MedGen	HP;C0013421	criteria provided, single submitter	LD derived	rs73634656
Clinvar_Rec_13416	rs1298170960	Uncertain significance	Mucopolysaccharidosis, MPS-III-C	RCV000674079	MedGen;OMIM;Orphanet;SNOMED CT	C0086649;252930;ORPHA79271;75238000	criteria provided, single submitter	tagSNP	rs1298170960
Clinvar_Rec_13417	rs76686222	Uncertain significance	Sanfilippo syndrome	RCV000368442	MedGen;Orphanet;SNOMED CT	C0026706;ORPHA581;88393000	criteria provided, single submitter	LD derived	rs78930544
Clinvar_Rec_13418	rs587777685	Pathogenic	Immunodeficiency 26 without neurologic abnormalities	RCV000142389	MedGen	C4016698	no assertion criteria provided	tagSNP	rs587777685
Clinvar_Rec_13419	rs749527505	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000652369	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs749527505
Clinvar_Rec_13420	rs780953775	Uncertain significance	Immunodeficiency 26 with or without neurologic abnormalities	RCV000706125	MedGen;OMIM;Orphanet	C4014833;615966;ORPHA317425	criteria provided, single submitter	tagSNP	rs780953775
Clinvar_Rec_13421	rs143488457	Benign/Likely benign	Natural killer cell and glucocorticoid deficiency with DNA repair defect;not provided	RCV000625060;RCV000950417	MedGen;OMIM;Orphanet	C1864947;609981;ORPHA75391;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143488457
Clinvar_Rec_13422	rs267607083	Benign/Likely benign	Vesicoureteral reflux 3;not provided;not specified	RCV000001140;RCV000895009;RCV000430409	MedGen;OMIM	C3150927;613674;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267607083
Clinvar_Rec_13423	rs1246397238	Pathogenic	Retinitis pigmentosa 1	RCV000678611	MedGen;OMIM	C0220701;180100	no assertion criteria provided	tagSNP	rs1246397238
Clinvar_Rec_13424	rs147116231	Conflicting interpretations of pathogenicity	Retinal dystrophy;not provided;not specified	RCV001074027;RCV000910374;RCV000354871	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs147116231
Clinvar_Rec_13425	rs878853327	Likely pathogenic	Retinal dystrophy	RCV000225399	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005	no assertion criteria provided	tagSNP	rs878853327
Clinvar_Rec_13426	rs73679499	Likely benign	Retinitis Pigmentosa, Dominant	RCV000269387	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs73679499
Clinvar_Rec_13427	rs111729642	Likely benign	Chondrodysplasia	RCV000372040	MedGen	C0343284	criteria provided, single submitter	tagSNP	rs111729642
Clinvar_Rec_13428	rs746633621	Uncertain significance	CHARGE association	RCV000634440	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs746633621
Clinvar_Rec_13429	rs1187193827	Uncertain significance	CHARGE association	RCV000634418	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1187193827
Clinvar_Rec_13430	rs771367272	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000397140;RCV000305020	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs771367272
Clinvar_Rec_13431	rs771367272	Likely benign	History of neurodevelopmental disorder	RCV000716008	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs771367272
Clinvar_Rec_13432	rs1563632581	Uncertain significance	History of neurodevelopmental disorder	RCV000717781	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1563632581
Clinvar_Rec_13433	rs1554599036	Pathogenic	Inborn genetic diseases	RCV000622357	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554599036
Clinvar_Rec_13434	rs886040987	Pathogenic	CHARGE association	RCV000258078	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs886040987
Clinvar_Rec_13435	rs751726519	Uncertain significance	CHARGE association;Hypogonadism with anosmia;not specified	RCV000282948;RCV000406540;RCV000171413	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003;MedGen	criteria provided, single submitter	tagSNP	rs751726519
Clinvar_Rec_13436	rs1554604059	Pathogenic	Inborn genetic diseases	RCV000623241	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554604059
Clinvar_Rec_13437	rs1060503185	Pathogenic	CHARGE association	RCV000475738	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1060503185
Clinvar_Rec_13438	rs886063038	Conflicting interpretations of pathogenicity	CHARGE association;Hypogonadism with anosmia;not provided	RCV000385958;RCV000296244;RCV000485316	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886063038
Clinvar_Rec_13439	rs886063040	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000290330;RCV000384689	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, single submitter	tagSNP	rs886063040
Clinvar_Rec_13440	rs777753993	Uncertain significance	CHARGE association;Hypogonadism with anosmia	RCV000405181;RCV000340499	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen;ORPHA478;93559003	criteria provided, multiple submitters, no conflicts	tagSNP	rs777753993
Clinvar_Rec_13441	rs139876661	Conflicting interpretations of pathogenicity	CHARGE association;not provided	RCV000634424;RCV000081855	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs139876661
Clinvar_Rec_13442	rs878975068	Pathogenic	CHARGE association	RCV000634433	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs878975068
Clinvar_Rec_13443	rs587783459	Pathogenic	CHARGE association	RCV000145698	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs587783459
Clinvar_Rec_13444	rs189470710	Uncertain significance	Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive	RCV000279618;RCV000334680	MedGen	CN239183;MedGen	criteria provided, single submitter	tagSNP	rs189470710
Clinvar_Rec_13445	rs371522442	Conflicting interpretations of pathogenicity	Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive;not provided	RCV000307165;RCV000391244;RCV000593980	MedGen	CN239183;MedGen	criteria provided, conflicting interpretations	tagSNP	rs371522442
Clinvar_Rec_13446	rs587777146	Pathogenic	Joubert syndrome 21	RCV000087075	MedGen;OMIM	C3810212;615636	no assertion criteria provided	tagSNP	rs587777146
Clinvar_Rec_13447	rs375113643	Pathogenic	Joubert syndrome 21	RCV000087072	MedGen;OMIM	C3810212;615636	criteria provided, single submitter	tagSNP	rs375113643
Clinvar_Rec_13448	rs374703898	Pathogenic/Likely pathogenic	Joubert syndrome 21;not provided	RCV000201690;RCV000520785	MedGen;OMIM	C3810212;615636;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374703898
Clinvar_Rec_13449	rs761382780	Pathogenic	Joubert syndrome 21	RCV000201671	MedGen;OMIM	C3810212;615636	criteria provided, single submitter	tagSNP	rs761382780
Clinvar_Rec_13450	rs863225191	Pathogenic	Joubert syndrome 21	RCV000201764	MedGen;OMIM	C3810212;615636	criteria provided, single submitter	tagSNP	rs863225191
Clinvar_Rec_13451	rs863225191	Pathogenic	Joubert syndrome 21	RCV000201734	MedGen;OMIM	C3810212;615636	criteria provided, single submitter	tagSNP	rs863225191
Clinvar_Rec_13452	rs537456518	Pathogenic	Joubert syndrome 21	RCV000087076	MedGen;OMIM	C3810212;615636	no assertion criteria provided	tagSNP	rs537456518
Clinvar_Rec_13453	rs141811307	Benign	Branchiootorenal Spectrum Disorders;Otofaciocervical syndrome 1	RCV000322218;RCV000376825	MedGen;OMIM	CN043574;MedGen;166780	criteria provided, single submitter	LD derived	rs56115941
Clinvar_Rec_13454	rs77825059	Benign/Likely benign	Branchiootorenal Spectrum Disorders;Otofaciocervical syndrome 1;not provided;not specified	RCV000334904;RCV000298837;RCV000871926;RCV000607831	MedGen;OMIM	CN043574;MedGen;166780;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs77825059
Clinvar_Rec_13455	rs876657690	Pathogenic	Rare genetic deafness	RCV000215585	MedGen;Orphanet	CN826980;ORPHA96210	criteria provided, single submitter	tagSNP	rs876657690
Clinvar_Rec_13456	rs200386494	Uncertain significance	Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type	RCV000267245	MedGen	CN239153	criteria provided, single submitter	tagSNP	rs200386494
Clinvar_Rec_13457	rs886041386	Pathogenic	Charcot-Marie-Tooth disease;not provided	RCV000789712;RCV000366418	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs886041386
Clinvar_Rec_13458	rs1221804567	Pathogenic	Charcot-Marie-Tooth disease, type 4A	RCV000559806	MedGen;OMIM;Orphanet	C1859198;214400;ORPHA99948	criteria provided, single submitter	tagSNP	rs1221804567
Clinvar_Rec_13459	rs770501034	Pathogenic	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, recessive intermediate A;not provided	RCV000789164;RCV000664207;RCV000235362	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;608340;ORPHA217055;MedGen	criteria provided, single submitter	tagSNP	rs770501034
Clinvar_Rec_13460	rs1060500978	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 4A;not provided	RCV000789157;RCV000456890;RCV000479637	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;214400;ORPHA99948;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1060500978
Clinvar_Rec_13461	rs397515443	Pathogenic	Charcot-Marie-Tooth disease type 2K	RCV000043550	MedGen;OMIM;Orphanet	C1842983;607831;ORPHA101097	no assertion criteria provided	tagSNP	rs397515443
Clinvar_Rec_13462	rs569387185	Uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000355885	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	tagSNP	rs569387185
Clinvar_Rec_13463	rs76594593	Benign/Likely benign	CARBONIC ANHYDRASE II VARIANT;Osteopetrosis with renal tubular acidosis;not provided	RCV000000961;RCV000328868;RCV000961873	na;MedGen;OMIM;Orphanet;SNOMED CT	C0345407;259730;ORPHA2785;254122007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2228063
Clinvar_Rec_13464	rs1554604833	Likely pathogenic	Achromatopsia 3	RCV000498407	MedGen;OMIM	C1849792;262300	no assertion criteria provided	tagSNP	rs1554604833
Clinvar_Rec_13465	rs200805087	Pathogenic	Abnormality of the eye;Achromatopsia 3	RCV000504783;RCV000988076	Human Phenotype Ontology;MedGen;OMIM	HP;C4316870;MedGen;262300	criteria provided, single submitter	tagSNP	rs200805087
Clinvar_Rec_13466	rs775038513	Pathogenic	Achromatopsia 3	RCV000498976	MedGen;OMIM	C1849792;262300	no assertion criteria provided	tagSNP	rs775038513
Clinvar_Rec_13467	rs765574129	Uncertain significance	Achromatopsia 3	RCV000497792	MedGen;OMIM	C1849792;262300	no assertion criteria provided	tagSNP	rs765574129
Clinvar_Rec_13468	rs886063161	Pathogenic/Likely pathogenic	Achromatopsia 3;CNGB3-Related Disorders;not provided	RCV000497907;RCV000278041;RCV000821438	MedGen;OMIM	C1849792;262300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886063161
Clinvar_Rec_13469	rs115027349	Likely pathogenic	Achromatopsia 3	RCV000498368	MedGen;OMIM	C1849792;262300	no assertion criteria provided	LD derived	rs35010099
Clinvar_Rec_13470	rs115027349	Benign	Achromatopsia 3;not provided;not specified	RCV000498988;RCV000961874;RCV000244737	MedGen;OMIM	C1849792;262300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs35010099
Clinvar_Rec_13471	rs1554618413	Pathogenic	Achromatopsia 3	RCV000497501	MedGen;OMIM	C1849792;262300	no assertion criteria provided	tagSNP	rs1554618413
Clinvar_Rec_13472	rs587781547	Uncertain significance	Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;Microcephaly, normal intelligence and immunodeficiency;not specified	RCV000129561;RCV000206550;RCV000204812;RCV000780524	MedGen;Orphanet;SNOMED CT;MedGen;OMIM;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;C0376358;176807;399068003;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587781547
Clinvar_Rec_13473	rs1554556929	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000636714	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs1554556929
Clinvar_Rec_13474	rs587782297	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000572017;RCV001068570	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782297
Clinvar_Rec_13475	rs587782297	Uncertain significance	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency;not provided	RCV000131180;RCV000197335;RCV000212751	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587782297
Clinvar_Rec_13476	rs1554558323	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000555795	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs1554558323
Clinvar_Rec_13477	rs1554568316	Likely benign	Hereditary cancer-predisposing syndrome;Microcephaly, normal intelligence and immunodeficiency	RCV000773654;RCV000558967	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;251260;ORPHA647;234638009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554568316
Clinvar_Rec_13478	rs1554568431	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000568176	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1554568431
Clinvar_Rec_13479	rs774151023	Likely benign	Hereditary cancer-predisposing syndrome	RCV000775393	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs774151023
Clinvar_Rec_13480	rs749263651	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562197	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs749263651
Clinvar_Rec_13481	rs864622726	Uncertain significance	Microcephaly, normal intelligence and immunodeficiency	RCV000204001	MedGen;OMIM;Orphanet;SNOMED CT	C0398791;251260;ORPHA647;234638009	criteria provided, single submitter	tagSNP	rs864622726
Clinvar_Rec_13482	rs202104448	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not specified	RCV000130810;RCV000422154	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202104448
Clinvar_Rec_13483	rs202104448	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV000130921;RCV000441251	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs202104448
Clinvar_Rec_13484	rs550621760	Benign/Likely benign	Joubert syndrome 1;not specified	RCV000988094;RCV000174181	MedGen;OMIM	C4551568;213300;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140191346
Clinvar_Rec_13485	rs561198464	Uncertain significance	Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive	RCV000286862;RCV000339626	MedGen	CN239309;MedGen	criteria provided, single submitter	tagSNP	rs561198464
Clinvar_Rec_13486	rs375314973	Uncertain significance	Bardet-Biedl syndrome 21	RCV000585748	MedGen;OMIM	C4319932;617406	no assertion criteria provided	tagSNP	rs375314973
Clinvar_Rec_13487	rs387907136	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 21;Cone-rod dystrophy 16;Retinitis pigmentosa	RCV000477682;RCV000024193;RCV001002908	MedGen;OMIM;OMIM;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C4319932;617406;MedGen;614500;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs387907136
Clinvar_Rec_13488	rs1554625838	Likely pathogenic	Cohen syndrome	RCV000667467	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1554625838
Clinvar_Rec_13489	rs386834111	Likely pathogenic	Cohen syndrome	RCV000050105	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	no assertion criteria provided	tagSNP	rs386834111
Clinvar_Rec_13490	rs1044976516	Uncertain significance	Cohen syndrome	RCV000689056	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, multiple submitters, no conflicts	tagSNP	rs1044976516
Clinvar_Rec_13491	rs775601813	Conflicting interpretations of pathogenicity	Cohen syndrome;not provided	RCV000316237;RCV000924136	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs775601813
Clinvar_Rec_13492	rs6468694	Benign/Likely benign	Cohen syndrome;History of neurodevelopmental disorder;not specified	RCV000389102;RCV000715388;RCV000081867	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6468694
Clinvar_Rec_13493	rs112045467	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000715669;RCV000514319	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112045467
Clinvar_Rec_13494	rs79324124	Benign	History of neurodevelopmental disorder	RCV000716240	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs79324124
Clinvar_Rec_13495	rs386834059	Likely pathogenic	Cohen syndrome	RCV000050046	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs386834059
Clinvar_Rec_13496	rs1057517202	Likely pathogenic	Cohen syndrome	RCV000411667	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1057517202
Clinvar_Rec_13497	rs1554586994	Likely pathogenic	Cohen syndrome	RCV000668599	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1554586994
Clinvar_Rec_13498	rs1554590369	Uncertain significance	Cohen syndrome	RCV000668402	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1554590369
Clinvar_Rec_13499	rs1236948038	Uncertain significance	Cohen syndrome	RCV000666898	MedGen;OMIM;Orphanet;SNOMED CT	C0265223;216550;ORPHA193;56604005	criteria provided, single submitter	tagSNP	rs1236948038
Clinvar_Rec_13500	rs1563815206	Pathogenic	Ciliary dyskinesia, primary, 28	RCV000697113	MedGen;OMIM	C3809706;615505	criteria provided, single submitter	tagSNP	rs1563815206
Clinvar_Rec_13501	rs863224914	Likely pathogenic	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	RCV000198969	MedGen;OMIM;Orphanet	C2749861;612075;ORPHA255235	criteria provided, single submitter	tagSNP	rs863224914
Clinvar_Rec_13502	rs72554091	Likely benign	Mitochondrial DNA depletion syndrome;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions	RCV000287075;RCV000372168	MedGen;Orphanet	C0342782;ORPHA35698;MedGen	criteria provided, single submitter	tagSNP	rs72554091
Clinvar_Rec_13503	rs376592918	Likely benign	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive	RCV000645171	MedGen;OMIM;Orphanet	C4722305;243700;ORPHA217390	criteria provided, single submitter	tagSNP	rs376592918
Clinvar_Rec_13504	rs886037645	Pathogenic	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive	RCV000054451	MedGen;OMIM;Orphanet	C4722305;243700;ORPHA217390	no assertion criteria provided	tagSNP	rs886037645
Clinvar_Rec_13505	rs145573166	Conflicting interpretations of pathogenicity	Hyper-IgE syndrome;not provided;not specified	RCV000343297;RCV000645156;RCV000434238	MedGen;Orphanet	CN236381;ORPHA331223;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145573166
Clinvar_Rec_13506	rs554634853	Uncertain significance	Hyper-IgE syndrome	RCV000404685	MedGen;Orphanet	CN236381;ORPHA331223	criteria provided, single submitter	tagSNP	rs554634853
Clinvar_Rec_13507	rs12379259	Benign	Congenital cerebellar hypoplasia;not provided	RCV000335588;RCV000833492	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266470;213000;ORPHA1398;16026008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12379259
Clinvar_Rec_13508	rs56737058	Likely benign	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1;not provided;not specified	RCV000755656;RCV000885664;RCV000118822	MedGen;OMIM	C4551552;224050;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56737058
Clinvar_Rec_13509	rs777604507	Uncertain significance	Cone dystrophy 3	RCV000329920	MedGen;OMIM	C1865869;602093	criteria provided, single submitter	tagSNP	rs777604507
Clinvar_Rec_13510	rs387907302	Pathogenic	Cone dystrophy with supernormal rod response	RCV000030811	MedGen;OMIM;Orphanet	C1835897;610356;ORPHA209932	no assertion criteria provided	tagSNP	rs387907302
Clinvar_Rec_13511	rs144720690	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000323037	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs144720690
Clinvar_Rec_13512	rs201142941	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000390618	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs201142941
Clinvar_Rec_13513	rs199506457	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000312816	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs199506457
Clinvar_Rec_13514	rs372340726	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000367521	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs372340726
Clinvar_Rec_13515	rs113754532	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000405225	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs113754532
Clinvar_Rec_13516	rs886063961	Uncertain significance	Diabetes mellitus, neonatal, with congenital hypothyroidism	RCV000293287	MedGen;OMIM;Orphanet	C1857775;610199;ORPHA79118	criteria provided, single submitter	tagSNP	rs886063961
Clinvar_Rec_13517	rs587777696	Pathogenic	Dicarboxylic aminoaciduria	RCV000143976	MedGen;OMIM;Orphanet	C1857253;222730;ORPHA2195	no assertion criteria provided	tagSNP	rs587777696
Clinvar_Rec_13518	rs764152210	Uncertain significance	Dicarboxylic aminoaciduria	RCV000358472	MedGen;OMIM;Orphanet	C1857253;222730;ORPHA2195	criteria provided, single submitter	tagSNP	rs764152210
Clinvar_Rec_13519	rs550487510	Uncertain significance	Budd-Chiari syndrome	RCV000296118	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0856761;600880;ORPHA131;82385007	criteria provided, single submitter	LD derived	rs529050943
Clinvar_Rec_13520	rs536077307	Conflicting interpretations of pathogenicity	Non-ketotic hyperglycinemia;not provided	RCV000670066;RCV000964586	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006;MedGen	criteria provided, conflicting interpretations	LD derived	rs576723612
Clinvar_Rec_13521	rs778109389	Uncertain significance	Non-ketotic hyperglycinemia	RCV000665303	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, multiple submitters, no conflicts	tagSNP	rs778109389
Clinvar_Rec_13522	rs1554646734	Uncertain significance	Non-ketotic hyperglycinemia	RCV000638276	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs1554646734
Clinvar_Rec_13523	rs1554652793	Uncertain significance	Non-ketotic hyperglycinemia	RCV000673094	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs1554652793
Clinvar_Rec_13524	rs1251443902	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	RCV000667354	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, multiple submitters, no conflicts	tagSNP	rs1251443902
Clinvar_Rec_13525	rs573883784	Uncertain significance	Non-ketotic hyperglycinemia	RCV000687660	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0751748;605899;ORPHA407;237939006	criteria provided, single submitter	tagSNP	rs573883784
Clinvar_Rec_13526	rs61752864	Uncertain significance	Oculocutaneous albinism	RCV000284548	MedGen;Orphanet;SNOMED CT	C0078918;ORPHA55;63844009	criteria provided, single submitter	tagSNP	rs61752864
Clinvar_Rec_13527	rs387907171	Uncertain significance	Skin/hair/eye pigmentation, variation in, 11;not provided	RCV000024318;RCV001048857	MedGen;OMIM	C2677086;612271;MedGen	criteria provided, single submitter	tagSNP	rs387907171
Clinvar_Rec_13528	rs61752937	Conflicting interpretations of pathogenicity	Oculocutaneous albinism;not specified	RCV000399302;RCV000175632	MedGen;Orphanet;SNOMED CT	C0078918;ORPHA55;63844009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61752937
Clinvar_Rec_13529	rs148782717	Conflicting interpretations of pathogenicity	Oculocutaneous albinism;not provided	RCV000260372;RCV000927702	MedGen;Orphanet;SNOMED CT	C0078918;ORPHA55;63844009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs148782717
Clinvar_Rec_13530	rs886063753	Uncertain significance	Oculotrichoanal syndrome	RCV000272833	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs886063753
Clinvar_Rec_13531	rs558465754	Uncertain significance	Oculotrichoanal syndrome	RCV000284783	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs558465754
Clinvar_Rec_13532	rs375669260	Uncertain significance	Oculotrichoanal syndrome	RCV000317894	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs375669260
Clinvar_Rec_13533	rs758886562	Uncertain significance	Oculotrichoanal syndrome	RCV000353995	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs758886562
Clinvar_Rec_13534	rs10961700	Likely benign	Oculotrichoanal syndrome	RCV000271467	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs10961700
Clinvar_Rec_13535	rs281875280	Pathogenic	Trigonocephaly 2;not provided	RCV000023745;RCV000059640	MedGen;OMIM	C3280974;614485;MedGen	no assertion criteria provided	tagSNP	rs281875280
Clinvar_Rec_13536	rs781396064	Uncertain significance	Oculotrichoanal syndrome	RCV000387840	MedGen;OMIM;Orphanet	C1855425;248450;ORPHA2717	criteria provided, single submitter	tagSNP	rs781396064
Clinvar_Rec_13537	rs138682549	Benign	Cardiovascular phenotype;not provided;not specified	RCV000619141;RCV000230789;RCV000079436	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs78794935
Clinvar_Rec_13538	rs1180986256	Likely pathogenic	Fukuyama congenital muscular dystrophy	RCV000666220	MedGen;OMIM;Orphanet;SNOMED CT	C0410174;253800;ORPHA272;111502003	criteria provided, single submitter	tagSNP	rs1180986256
Clinvar_Rec_13539	rs767865405	Pathogenic	Fukuyama congenital muscular dystrophy;not provided	RCV000412460;RCV000378928	MedGen;OMIM;Orphanet;SNOMED CT	C0410174;253800;ORPHA272;111502003;MedGen	criteria provided, single submitter	tagSNP	rs767865405
Clinvar_Rec_13540	rs143748939	Uncertain significance	Walker-Warburg congenital muscular dystrophy;not provided	RCV000687793;RCV000396885	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143748939
Clinvar_Rec_13541	rs759808323	Likely benign	Cardiovascular phenotype;not provided	RCV000621346;RCV000951807	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs759808323
Clinvar_Rec_13542	rs200686690	Uncertain significance	Walker-Warburg congenital muscular dystrophy;not provided	RCV000815833;RCV000594749	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200686690
Clinvar_Rec_13543	rs587777748	Pathogenic	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4	RCV000003359	MedGen	CN355827	no assertion criteria provided	tagSNP	rs587777748
Clinvar_Rec_13544	rs977350409	Uncertain significance	Cardiovascular phenotype	RCV000620579	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs977350409
Clinvar_Rec_13545	rs980208971	Uncertain significance	Walker-Warburg congenital muscular dystrophy	RCV000634054	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs980208971
Clinvar_Rec_13546	rs149085844	Uncertain significance	Walker-Warburg congenital muscular dystrophy	RCV000546620	MedGen;Orphanet;SNOMED CT	C0265221;ORPHA899;111504002	criteria provided, single submitter	tagSNP	rs149085844
Clinvar_Rec_13547	rs1554735724	Uncertain significance	Familial dysautonomia	RCV000671681	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs1554735724
Clinvar_Rec_13548	rs111936933	Conflicting interpretations of pathogenicity	Familial dysautonomia;not provided;not specified	RCV000384303;RCV000858275;RCV000426847	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs111936933
Clinvar_Rec_13549	rs111936933	Uncertain significance	Familial dysautonomia	RCV000630679	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs111936933
Clinvar_Rec_13550	rs3737311	Conflicting interpretations of pathogenicity	Familial dysautonomia;not provided	RCV000287654;RCV000278649	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs3737311
Clinvar_Rec_13551	rs143723093	Conflicting interpretations of pathogenicity	Familial dysautonomia;not provided	RCV000345015;RCV000863374	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs143723093
Clinvar_Rec_13552	rs1554703851	Likely pathogenic	Familial dysautonomia	RCV000671254	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs1554703851
Clinvar_Rec_13553	rs1554703874	Likely pathogenic	Familial dysautonomia	RCV000667539	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	tagSNP	rs1554703874
Clinvar_Rec_13554	rs564564574	Uncertain significance	Familial dysautonomia	RCV000277345	MedGen;OMIM;Orphanet;SNOMED CT	C0013364;223900;ORPHA1764;29159009	criteria provided, single submitter	LD derived	rs138630440
Clinvar_Rec_13555	rs369428108	Uncertain significance	Epileptic encephalopathy, early infantile, 37	RCV000653397	MedGen;OMIM	C4310770;616981	criteria provided, single submitter	tagSNP	rs369428108
Clinvar_Rec_13556	rs1292312575	Uncertain significance	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I	RCV000551332;RCV000551332	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C4225368;616325;MedGen;208150;ORPHA994;401138005	criteria provided, single submitter	tagSNP	rs1292312575
Clinvar_Rec_13557	rs397515450	Pathogenic	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	RCV000054418	MedGen;OMIM	C4225368;616325	no assertion criteria provided	tagSNP	rs397515450
Clinvar_Rec_13558	rs869320674	Pathogenic	Deafness, autosomal recessive 31	RCV000190401	MedGen;OMIM	C1846839;607084	no assertion criteria provided	tagSNP	rs869320674
Clinvar_Rec_13559	rs34963246	Benign/Likely benign	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified	RCV000329423;RCV000272064;RCV000038887	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34963246
Clinvar_Rec_13560	rs886063375	Uncertain significance	Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome	RCV000400456;RCV000344616	MedGen;OMIM;SNOMED CT	CN239439;MedGen;500004;57838006	criteria provided, single submitter	tagSNP	rs886063375
Clinvar_Rec_13561	rs886063389	Uncertain significance	Primary Microcephaly, Recessive	RCV000302312	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886063389
Clinvar_Rec_13562	rs7875294	Benign	Primary autosomal recessive microcephaly 3	RCV000020837	MedGen;OMIM	C1858108;604804	no assertion criteria provided	tagSNP	rs7875294
Clinvar_Rec_13563	rs886063399	Uncertain significance	Primary Microcephaly, Recessive	RCV000352254	MedGen	CN239428	criteria provided, single submitter	tagSNP	rs886063399
Clinvar_Rec_13564	rs779417752	Uncertain significance	Nail-patella syndrome	RCV000292079	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs779417752
Clinvar_Rec_13565	rs113846301	Likely benign	Nail-patella syndrome	RCV000384432	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs113846301
Clinvar_Rec_13566	rs886063422	Uncertain significance	Nail-patella syndrome	RCV000280483	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs886063422
Clinvar_Rec_13567	rs886063434	Uncertain significance	Nail-patella syndrome	RCV000295820	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs886063434
Clinvar_Rec_13568	rs886063437	Uncertain significance	Nail-patella syndrome	RCV000385750	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs886063437
Clinvar_Rec_13569	rs563259179	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, type 2;not provided	RCV000358909;RCV000865000	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, conflicting interpretations	tagSNP	rs563259179
Clinvar_Rec_13570	rs769930277	Uncertain significance	Charcot-Marie-Tooth disease type 2P	RCV000537694	Gene;MedGen;OMIM	431712;C3280797;614436	criteria provided, single submitter	tagSNP	rs769930277
Clinvar_Rec_13571	rs886063456	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease, type 2;not specified	RCV000295366;RCV000418843	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886063456
Clinvar_Rec_13572	rs1060501723	Pathogenic	Early infantile epileptic encephalopathy	RCV000470907	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs1060501723
Clinvar_Rec_13573	rs1554776853	Likely pathogenic	Early infantile epileptic encephalopathy 4	RCV000590900	MedGen;OMIM	C2677326;612164	criteria provided, single submitter	tagSNP	rs1554776853
Clinvar_Rec_13574	rs796053368	Pathogenic	Early infantile epileptic encephalopathy;Early infantile epileptic encephalopathy 4;not provided	RCV000471170;RCV000415832;RCV000189615	MedGen;Orphanet;OMIM	C4552072;ORPHA1934;MedGen;612164;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs796053368
Clinvar_Rec_13575	rs781201877	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000468455	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs781201877
Clinvar_Rec_13576	rs1554809101	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000538318	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs1554809101
Clinvar_Rec_13577	rs1554809103	Likely benign	Hereditary hemorrhagic telangiectasia type 1	RCV000633167	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs1554809103
Clinvar_Rec_13578	rs763475207	Uncertain significance	Hereditary hemorrhagic telangiectasia	RCV000539445	MedGen;Orphanet;SNOMED CT	C0039445;ORPHA774;21877004	criteria provided, single submitter	tagSNP	rs763475207
Clinvar_Rec_13579	rs1564453019	Pathogenic	Hereditary hemorrhagic telangiectasia type 1	RCV000693928	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs1564453019
Clinvar_Rec_13580	rs1554809363	Uncertain significance	Hereditary hemorrhagic telangiectasia	RCV000633145	MedGen;Orphanet;SNOMED CT	C0039445;ORPHA774;21877004	criteria provided, single submitter	tagSNP	rs1554809363
Clinvar_Rec_13581	rs1064792934	Pathogenic	Hereditary hemorrhagic telangiectasia type 1;not provided	RCV000464962;RCV000786131	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, single submitter	tagSNP	rs1064792934
Clinvar_Rec_13582	rs1064794220	Pathogenic	Hereditary hemorrhagic telangiectasia;not provided	RCV000526610;RCV000484671	MedGen;Orphanet;SNOMED CT	C0039445;ORPHA774;21877004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064794220
Clinvar_Rec_13583	rs139334561	Uncertain significance	Hereditary hemorrhagic telangiectasia;Hereditary hemorrhagic telangiectasia type 1;not provided	RCV001034662;RCV000415646;RCV000488039	MedGen;Orphanet;SNOMED CT;OMIM	C0039445;ORPHA774;21877004;MedGen;187300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs139334561
Clinvar_Rec_13584	rs139334561	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1	RCV000556319	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs139334561
Clinvar_Rec_13585	rs886063476	Uncertain significance	Hereditary hemorrhagic telangiectasia type 1;Juvenile Polyposis	RCV000285725;RCV000336566	MedGen;OMIM	C4551861;187300;MedGen	criteria provided, single submitter	tagSNP	rs886063476
Clinvar_Rec_13586	rs760270633	Pathogenic	Epileptic encephalopathy, early infantile, 31;not provided	RCV000170498;RCV000263789	MedGen;OMIM	C4225357;616346;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760270633
Clinvar_Rec_13587	rs1339784958	Uncertain significance	Epileptic encephalopathy, early infantile, 31	RCV000685998	MedGen;OMIM	C4225357;616346	criteria provided, single submitter	tagSNP	rs1339784958
Clinvar_Rec_13588	rs137853135	Pathogenic	Ichthyosis prematurity syndrome	RCV000006104	MedGen;OMIM;Orphanet	C1837610;608649;ORPHA88621	no assertion criteria provided	tagSNP	rs137853135
Clinvar_Rec_13589	rs138310419	Benign/Likely benign	Lethal arthrogryposis with anterior horn cell disease;Lethal congenital contracture syndrome;not specified	RCV000370927;RCV000269348;RCV000244686	MedGen;OMIM;Orphanet;Orphanet	C2678471;611890;ORPHA53696;MedGen;ORPHA294965;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138310419
Clinvar_Rec_13590	rs121434409	Pathogenic	Lethal arthrogryposis with anterior horn cell disease	RCV000006836	MedGen;OMIM;Orphanet	C2678471;611890;ORPHA53696	no assertion criteria provided	tagSNP	rs121434409
Clinvar_Rec_13591	rs1064797353	Uncertain significance	Early infantile epileptic encephalopathy;not provided	RCV000703342;RCV000488052	MedGen;Orphanet	C4552072;ORPHA1934;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064797353
Clinvar_Rec_13592	rs374723711	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy	RCV000405304;RCV000817538	MedGen;Orphanet	CN239232;MedGen;ORPHA1934	criteria provided, multiple submitters, no conflicts	tagSNP	rs374723711
Clinvar_Rec_13593	rs771921943	Likely benign	Early infantile epileptic encephalopathy	RCV000470324	MedGen;Orphanet	C4552072;ORPHA1934	criteria provided, single submitter	tagSNP	rs771921943
Clinvar_Rec_13594	rs571929784	Uncertain significance	Early infantile epileptic encephalopathy 5	RCV000768321	MedGen;OMIM	C3150731;613477	criteria provided, single submitter	LD derived	rs372062686
Clinvar_Rec_13595	rs56195701	Likely benign	Dystonia 1	RCV000259565	MedGen;OMIM	C1851945;128100	criteria provided, single submitter	LD derived	rs573629050
Clinvar_Rec_13596	rs149605597	Benign/Likely benign	Dystonia 1;not specified	RCV000292494;RCV000247822	MedGen;OMIM	C1851945;128100;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs72755217
Clinvar_Rec_13597	rs121908644	Pathogenic	Citrullinemia type I	RCV000006704	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908644
Clinvar_Rec_13598	rs121908642	Pathogenic	Citrullinemia type I;not provided	RCV000006702;RCV000723845	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121908642
Clinvar_Rec_13599	rs2293518	Benign/Likely benign	Cortical malformations, occipital;not specified	RCV000614415;RCV000117456	MedGen;OMIM;Orphanet	C3279875;614115;ORPHA280640;MedGen	no assertion criteria provided	tagSNP	rs2293518
Clinvar_Rec_13600	rs568052856	Uncertain significance	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000287618;RCV000384170	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	tagSNP	rs568052856
Clinvar_Rec_13601	rs1157060310	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000572442;RCV000762583	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1157060310
Clinvar_Rec_13602	rs878853967	Uncertain significance	Tuberous sclerosis 1	RCV000230614	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs878853967
Clinvar_Rec_13603	rs1554813253	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001017567;RCV000642072	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554813253
Clinvar_Rec_13604	rs770834438	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000491384	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs770834438
Clinvar_Rec_13605	rs770834438	Uncertain significance	Tuberous sclerosis 1;not provided	RCV000698701;RCV000999257	MedGen;OMIM	C1854465;191100;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs770834438
Clinvar_Rec_13606	rs118203688	not provided	Tuberous sclerosis syndrome	RCV000042201	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203688
Clinvar_Rec_13607	rs118203556	not provided	Bladder cancer, somatic;Tuberous sclerosis syndrome	RCV000054884;RCV000042058	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005684;109800;ORPHA157980;399326009;MedGen;ORPHA805;7199000	no assertion provided	tagSNP	rs118203556
Clinvar_Rec_13608	rs118203555	not provided	Tuberous sclerosis syndrome	RCV000042057	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203555
Clinvar_Rec_13609	rs1554816071	Uncertain significance	Tuberous sclerosis 1	RCV000642017	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554816071
Clinvar_Rec_13610	rs1554816070	Uncertain significance	Tuberous sclerosis 1	RCV000548301	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554816070
Clinvar_Rec_13611	rs118203534	not provided	Tuberous sclerosis syndrome	RCV000042034	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203534
Clinvar_Rec_13612	rs1564482593	Uncertain significance	Tuberous sclerosis 1	RCV000701629	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1564482593
Clinvar_Rec_13613	rs1564482602	Uncertain significance	Tuberous sclerosis 1	RCV000698486	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1564482602
Clinvar_Rec_13614	rs118203533	not provided	Tuberous sclerosis syndrome	RCV000042033	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203533
Clinvar_Rec_13615	rs118203532	Conflicting interpretations of pathogenicity	Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Primitive neuroectodermal tumor;Tuberous sclerosis syndrome;not provided;not specified	RCV000319085;RCV000568490;RCV000761004;RCV000054845;RCV000034602;RCV000189811	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0206663;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs118203532
Clinvar_Rec_13616	rs1564482622	Pathogenic	Tuberous sclerosis 1	RCV000693592	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1564482622
Clinvar_Rec_13617	rs1554816081	Likely benign	Tuberous sclerosis 1	RCV000642061	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554816081
Clinvar_Rec_13618	rs1554816081	Likely benign	Tuberous sclerosis 1	RCV000642059	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554816081
Clinvar_Rec_13619	rs775367219	Uncertain significance	Tuberous sclerosis 1	RCV000642036	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs775367219
Clinvar_Rec_13620	rs6597585	not provided	Tuberous sclerosis syndrome	RCV000042014	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	LD derived	rs7872606
Clinvar_Rec_13621	rs1554819388	Uncertain significance	Tuberous sclerosis 1	RCV000535860	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554819388
Clinvar_Rec_13622	rs118203432	not provided	Tuberous sclerosis syndrome	RCV000042343	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203432
Clinvar_Rec_13623	rs397514816	not provided	Tuberous sclerosis syndrome	RCV000054942	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514816
Clinvar_Rec_13624	rs118203428	not provided	Tuberous sclerosis syndrome	RCV000042339	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs118203428
Clinvar_Rec_13625	rs118203427	Pathogenic	Focal cortical dysplasia type II;Lymphangiomyomatosis;Tuberous sclerosis 1;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	RCV000515416;RCV000515416;RCV000201126;RCV000515416;RCV000042337;RCV000189836	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;606690;ORPHA538;73017001;MedGen;191100;MedGen;191100;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118203427
Clinvar_Rec_13626	rs774900322	Uncertain significance	Tuberous sclerosis 1	RCV000553355	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs774900322
Clinvar_Rec_13627	rs774900322	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1	RCV001023078;RCV000642044	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;191100	criteria provided, multiple submitters, no conflicts	tagSNP	rs774900322
Clinvar_Rec_13628	rs1554821022	Pathogenic	Tuberous sclerosis 1	RCV000539497	MedGen;OMIM	C1854465;191100	criteria provided, single submitter	tagSNP	rs1554821022
Clinvar_Rec_13629	rs573638007	Likely benign	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000279855;RCV000352250	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	LD derived	rs373845353
Clinvar_Rec_13630	rs587760063	Uncertain significance	Focal cortical dysplasia type II;Tuberous sclerosis syndrome	RCV000302572;RCV000359758	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA805;7199000	criteria provided, single submitter	LD derived	rs539030496
Clinvar_Rec_13631	rs17150557	Benign/Likely benign	Upshaw-Schulman syndrome;not specified	RCV000297875;RCV000251872	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34054981
Clinvar_Rec_13632	rs17150557	Benign/Likely benign	Upshaw-Schulman syndrome;not specified	RCV000343479;RCV000243916	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs36219245
Clinvar_Rec_13633	rs17150557	Benign/Likely benign	Upshaw-Schulman syndrome;not specified	RCV000345892;RCV000244738	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs28647808
Clinvar_Rec_13634	rs148365271	Uncertain significance	Upshaw-Schulman syndrome	RCV000330336	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004	criteria provided, single submitter	tagSNP	rs148365271
Clinvar_Rec_13635	rs121908474	Pathogenic	Upshaw-Schulman syndrome	RCV000006164	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004	no assertion criteria provided	tagSNP	rs121908474
Clinvar_Rec_13636	rs387906341	Pathogenic	Upshaw-Schulman syndrome	RCV000006161	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004	no assertion criteria provided	tagSNP	rs387906341
Clinvar_Rec_13637	rs782798764	Uncertain significance	Upshaw-Schulman syndrome	RCV000299154	MedGen;OMIM;Orphanet;SNOMED CT	C1268935;274150;ORPHA93583;373420004	criteria provided, single submitter	tagSNP	rs782798764
Clinvar_Rec_13638	rs1055432	Benign	Three Vessel Coronary Disease;Upshaw-Schulman syndrome;not specified	RCV001003432;RCV000359569;RCV000244372	MedGen;OMIM;Orphanet;SNOMED CT	C3272265;MedGen;274150;ORPHA93583;373420004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1055432
Clinvar_Rec_13639	rs201689325	Uncertain significance	Orthostatic hypotension 1	RCV000286186	MedGen;OMIM;Orphanet	C4746777;223360;ORPHA230	criteria provided, single submitter	tagSNP	rs201689325
Clinvar_Rec_13640	rs561913284	Uncertain significance	Orthostatic hypotension 1	RCV000408184	MedGen;OMIM;Orphanet	C4746777;223360;ORPHA230	criteria provided, single submitter	tagSNP	rs561913284
Clinvar_Rec_13641	rs886039023	Uncertain significance	Cardiovascular phenotype	RCV000248041	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs886039023
Clinvar_Rec_13642	rs1246095864	Likely benign	Ehlers-Danlos syndrome, classic type	RCV000536706	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1246095864
Clinvar_Rec_13643	rs887190843	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000698269	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs887190843
Clinvar_Rec_13644	rs61737708	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 7A;not provided;not specified	RCV000618882;RCV000369207;RCV000461997;RCV000124485	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61737708
Clinvar_Rec_13645	rs761770226	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000704444	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs761770226
Clinvar_Rec_13646	rs1564466171	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000702366	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1564466171
Clinvar_Rec_13647	rs387906606	Pathogenic	Ehlers-Danlos syndrome, classic type;not provided	RCV000022486;RCV000199830	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, single submitter	tagSNP	rs387906606
Clinvar_Rec_13648	rs1554805618	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000534633	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1554805618
Clinvar_Rec_13649	rs752334702	Uncertain significance	Cardiovascular phenotype;Connective tissue disease;Ehlers-Danlos syndrome, classic type;not provided	RCV000619006;RCV000659461;RCV000230482;RCV000198189	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	CN230736;MedGen;130000;ORPHA287;20766005;83470009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs752334702
Clinvar_Rec_13650	rs752240390	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000550104	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs752240390
Clinvar_Rec_13651	rs1481356544	Likely benign	Seizures	RCV000718997	Human Phenotype Ontology;MedGen	HP;C0036572	criteria provided, single submitter	tagSNP	rs1481356544
Clinvar_Rec_13652	rs1564367281	Uncertain significance	Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5	RCV000705702;RCV000705702	MedGen;OMIM;OMIM	C3554195;614959;MedGen;615005	criteria provided, single submitter	tagSNP	rs1564367281
Clinvar_Rec_13653	rs537431085	Benign/Likely benign	Seizures;not provided;not specified	RCV000718097;RCV000464297;RCV000438602	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs537431085
Clinvar_Rec_13654	rs765403435	Likely benign	Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5	RCV000556695;RCV000556695	MedGen;OMIM;OMIM	C3554195;614959;MedGen;615005	criteria provided, single submitter	tagSNP	rs765403435
Clinvar_Rec_13655	rs781049722	Uncertain significance	Combined Pituitary Hormone Deficiency, Recessive	RCV000264184	MedGen	CN239344	criteria provided, single submitter	tagSNP	rs781049722
Clinvar_Rec_13656	rs886063705	Uncertain significance	Combined Pituitary Hormone Deficiency, Recessive	RCV000261280	MedGen	CN239344	criteria provided, single submitter	tagSNP	rs886063705
Clinvar_Rec_13657	rs746470735	Pathogenic	Candidiasis, familial, 2	RCV000697296	MedGen;OMIM;Orphanet	C1859353;212050;ORPHA457088	criteria provided, single submitter	tagSNP	rs746470735
Clinvar_Rec_13658	rs750049509	Uncertain significance	Familial Candidiasis, Recessive	RCV000398422	MedGen	CN239217	criteria provided, single submitter	tagSNP	rs750049509
Clinvar_Rec_13659	rs368462816	Uncertain significance	SNAPC4-associated inflammatory disease	RCV000626012	-	-	criteria provided, single submitter	tagSNP	rs368462816
Clinvar_Rec_13660	rs1564430716	Pathogenic	Joubert syndrome	RCV000689290	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT	HP;C0431399;ORPHA475;253175003;716997004	criteria provided, single submitter	tagSNP	rs1564430716
Clinvar_Rec_13661	rs199652954	Uncertain significance	Adams-Oliver syndrome 5;Cardiovascular phenotype;not provided	RCV000792055;RCV000248613;RCV000429642	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199652954
Clinvar_Rec_13662	rs1064796983	Uncertain significance	Adams-Oliver syndrome 5;Cardiovascular phenotype;not provided	RCV000662262;RCV000621478;RCV000484133	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064796983
Clinvar_Rec_13663	rs61751536	Benign/Likely benign	Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV000621475;RCV000769593;RCV000206483;RCV000431633	MedGen;Orphanet	CN230736;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61751536
Clinvar_Rec_13664	rs78857347	Likely benign	Cardiovascular phenotype;not provided	RCV000618651;RCV000462896	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs192914380
Clinvar_Rec_13665	rs954507677	Uncertain significance	Adams-Oliver syndrome 5	RCV000655264	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	tagSNP	rs954507677
Clinvar_Rec_13666	rs372348365	Uncertain significance	Adams-Oliver syndrome 5;not provided	RCV000466504;RCV000786381	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, single submitter	tagSNP	rs372348365
Clinvar_Rec_13667	rs758031388	Likely benign	Cardiovascular phenotype	RCV000621396	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs758031388
Clinvar_Rec_13668	rs374989581	Benign/Likely benign	Cardiovascular phenotype;not provided	RCV000621889;RCV000546407	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374989581
Clinvar_Rec_13669	rs773990513	Likely benign	Adams-Oliver syndrome 5;not specified	RCV000550713;RCV000602759	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773990513
Clinvar_Rec_13670	rs2229970	Benign	Adams-Oliver syndrome 5;Cardiovascular phenotype;not specified	RCV000226163;RCV000254418;RCV000421870	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2229970
Clinvar_Rec_13671	rs61751554	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000253158;RCV000458260;RCV000603265	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61751554
Clinvar_Rec_13672	rs1554729443	Pathogenic	Adams-Oliver syndrome 5	RCV000662237	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	tagSNP	rs1554729443
Clinvar_Rec_13673	rs752071569	Uncertain significance	Adams-Oliver syndrome 5	RCV000559630	MedGen;OMIM	C4014970;616028	criteria provided, single submitter	tagSNP	rs752071569
Clinvar_Rec_13674	rs2229975	Benign	Aortic valve disorder;Cardiovascular phenotype;not specified	RCV000609106;RCV000620070;RCV000418721	MedGen;OMIM;SNOMED CT	C3887892;109730;8722008;MedGen	criteria provided, single submitter	tagSNP	rs2229975
Clinvar_Rec_13675	rs376104770	Uncertain significance	Adams-Oliver syndrome 5;Cardiovascular phenotype	RCV000537829;RCV000621230	MedGen;OMIM	C4014970;616028;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs376104770
Clinvar_Rec_13676	rs143473036	Conflicting interpretations of pathogenicity	ABCA2-related condition;not provided	RCV000626005;RCV000907194	na;MedGen	CN517202	criteria provided, conflicting interpretations	tagSNP	rs143473036
Clinvar_Rec_13677	rs141137915	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717910;RCV000968632	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs141112920
Clinvar_Rec_13678	rs141137915	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717915;RCV000968634	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs144271949
Clinvar_Rec_13679	rs144730621	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided	RCV000716471;RCV000269457;RCV000956786	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs115335100
Clinvar_Rec_13680	rs146417316	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000717949;RCV000726027;RCV000193471	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146417316
Clinvar_Rec_13681	rs199799811	Conflicting interpretations of pathogenicity	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;not specified	RCV001050499;RCV000605049	MedGen;OMIM	C3280282;614254;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199799811
Clinvar_Rec_13682	rs1554784044	Pathogenic	Autosomal recessive hypophosphatemic bone disease	RCV000001498	MedGen;OMIM;Orphanet;SNOMED CT	C1853271;241530;ORPHA157215;237891005	criteria provided, single submitter	tagSNP	rs1554784044
Clinvar_Rec_13683	rs374367377	Uncertain significance	Kleefstra syndrome 1	RCV000375306	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	tagSNP	rs374367377
Clinvar_Rec_13684	rs886063738	Uncertain significance	Kleefstra syndrome 1	RCV000306088	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	tagSNP	rs886063738
Clinvar_Rec_13685	rs11137244	Benign	History of neurodevelopmental disorder;Kleefstra syndrome 1;not specified	RCV000715805;RCV000335233;RCV000116961	MedGen;OMIM;Orphanet	C2711754;MedGen;610253;ORPHA96147;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11137244
Clinvar_Rec_13686	rs369941047	Uncertain significance	Kleefstra syndrome 1	RCV000399891	MedGen;OMIM;Orphanet	C0795833;610253;ORPHA96147	criteria provided, single submitter	tagSNP	rs369941047
Clinvar_Rec_13687	rs786201931	Likely benign	Hereditary cancer-predisposing syndrome	RCV000164467	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786201931
Clinvar_Rec_13688	rs2273719	Benign	Multiple Cutaneous and Mucosal Venous Malformations;not specified	RCV000291810;RCV000507287	MedGen;OMIM;Orphanet	C1838437;600195;ORPHA2451;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2273719
Clinvar_Rec_13689	rs544322437	Likely benign	Multiple Cutaneous and Mucosal Venous Malformations	RCV000355857	MedGen;OMIM;Orphanet	C1838437;600195;ORPHA2451	criteria provided, single submitter	tagSNP	rs544322437
Clinvar_Rec_13690	rs146744987	Uncertain significance	Congenital disorder of glycosylation	RCV000350633	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs146744987
Clinvar_Rec_13691	rs753854896	Uncertain significance	Congenital disorder of glycosylation	RCV000393571	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs753854896
Clinvar_Rec_13692	rs145241128	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided;not specified	RCV000332250;RCV000954407;RCV000435848	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs145241128
Clinvar_Rec_13693	rs114538360	Conflicting interpretations of pathogenicity	Primary ciliary dyskinesia;not provided;not specified	RCV000229436;RCV000857426;RCV000216144	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, conflicting interpretations	LD derived	rs77344166
Clinvar_Rec_13694	rs1554687745	Uncertain significance	Primary ciliary dyskinesia	RCV000629286	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs1554687745
Clinvar_Rec_13695	rs769224534	Pathogenic	Primary ciliary dyskinesia	RCV000629374	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs769224534
Clinvar_Rec_13696	rs201754555	Uncertain significance	Primary ciliary dyskinesia	RCV000368210	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs201754555
Clinvar_Rec_13697	rs146015192	Likely benign	Kartagener syndrome;not provided;not specified	RCV000668911;RCV000861159;RCV000246472	MedGen;OMIM;Orphanet;SNOMED CT	C4551906;244400;ORPHA98861;42402006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146015192
Clinvar_Rec_13698	rs606231165	Pathogenic	Kartagener syndrome	RCV000005957	MedGen;OMIM;Orphanet;SNOMED CT	C4551906;244400;ORPHA98861;42402006	no assertion criteria provided	tagSNP	rs606231165
Clinvar_Rec_13699	rs138460682	Uncertain significance	Primary ciliary dyskinesia	RCV000531761	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs138460682
Clinvar_Rec_13700	rs1554709151	Likely pathogenic	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	RCV000669329	MedGen;OMIM;Orphanet;SNOMED CT	C0268151;230400;ORPHA79239;124354006	criteria provided, single submitter	tagSNP	rs1554709151
Clinvar_Rec_13701	rs140711639	Benign/Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant;not provided	RCV000264259;RCV000360586;RCV000560152	MedGen	CN239175;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61752947
Clinvar_Rec_13702	rs191510586	Uncertain significance	Hyperphosphatasia with mental retardation syndrome 2	RCV000539170	MedGen;OMIM	C3553637;614749	criteria provided, single submitter	LD derived	rs182396158
Clinvar_Rec_13703	rs186147830	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant	RCV000340221;RCV000285114	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs553370942
Clinvar_Rec_13704	rs121909331	Pathogenic	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1	RCV000008991	MedGen;OMIM	C4551951;167320	no assertion criteria provided	tagSNP	rs121909331
Clinvar_Rec_13705	rs886063897	Uncertain significance	Fanconi anemia	RCV000346015	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, multiple submitters, no conflicts	tagSNP	rs886063897
Clinvar_Rec_13706	rs10972303	Benign	Fanconi anemia	RCV000380203	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs10972303
Clinvar_Rec_13707	rs147316771	Uncertain significance	Hyperphosphatasia with mental retardation syndrome 2;not provided	RCV000543266;RCV000431518	MedGen;OMIM	C3553637;614749;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs147316771
Clinvar_Rec_13708	rs537136183	Likely benign	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant	RCV000303765;RCV000339601	MedGen	CN239175;MedGen	criteria provided, single submitter	LD derived	rs137953487
Clinvar_Rec_13709	rs537136183	Uncertain significance	Fanconi anemia	RCV000276025	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	LD derived	rs532840867
Clinvar_Rec_13710	rs561293219	Uncertain significance	Hyperphosphatasia with mental retardation syndrome 2	RCV000698283	MedGen;OMIM	C3553637;614749	criteria provided, single submitter	LD derived	rs558371613
Clinvar_Rec_13711	rs35818148	Uncertain significance	Hereditary spastic paraplegia 5A;Spastic paraplegia	RCV000500016;RCV001039689	MedGen;OMIM;Orphanet;MedGen	C1849115;270800;ORPHA100986;Human Phenotype Ontology;C0037772	criteria provided, multiple submitters, no conflicts	tagSNP	rs35818148
Clinvar_Rec_13712	rs587777596	Pathogenic	Epiphyseal chondrodysplasia, miura type	RCV000132561	MedGen;OMIM;Orphanet	C4014690;615923;ORPHA329191	no assertion criteria provided	tagSNP	rs587777596
Clinvar_Rec_13713	rs180177304	Likely pathogenic	Primary hyperoxaluria, type II	RCV000186438	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs180177304
Clinvar_Rec_13714	rs141800325	Conflicting interpretations of pathogenicity	Primary hyperoxaluria;not provided	RCV000306847;RCV000967757	MedGen;Orphanet;SNOMED CT	C0020501;ORPHA416;17901006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141800325
Clinvar_Rec_13715	rs1554748574	Likely pathogenic	Primary hyperoxaluria, type II	RCV000669152	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs1554748574
Clinvar_Rec_13716	rs1554748598	Likely pathogenic	Primary hyperoxaluria, type II	RCV000673051	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs1554748598
Clinvar_Rec_13717	rs1218448371	Uncertain significance	Primary hyperoxaluria, type II	RCV000674915	MedGen;OMIM;Orphanet;SNOMED CT	C0268165;260000;ORPHA93599;40951006	criteria provided, single submitter	tagSNP	rs1218448371
Clinvar_Rec_13718	rs535775866	Uncertain significance	Pontoneocerebellar hypoplasia	RCV000340374	MedGen;SNOMED CT	C1261175;373666002	criteria provided, single submitter	LD derived	rs567641975
Clinvar_Rec_13719	rs143232208	Likely pathogenic	Cardiovascular phenotype	RCV000245003	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs143232208
Clinvar_Rec_13720	rs41277901	Benign/Likely benign	Nonsyndromic Hearing Loss, Dominant;not provided;not specified	RCV000392051;RCV000880873;RCV000037068	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41277901
Clinvar_Rec_13721	rs1057515616	Uncertain significance	Nonsyndromic Hearing Loss, Dominant	RCV000373513	MedGen	CN239435	criteria provided, single submitter	tagSNP	rs1057515616
Clinvar_Rec_13722	rs2589615	Benign	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified	RCV000341193;RCV000283802;RCV000041144	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2589615
Clinvar_Rec_13723	rs71507808	Likely benign	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive	RCV000360853;RCV000306082	MedGen	CN239435;MedGen	criteria provided, single submitter	tagSNP	rs71507808
Clinvar_Rec_13724	rs1057515636	Uncertain significance	Hypomagnesemia 1, intestinal	RCV000370639	MedGen;OMIM;Orphanet	C1865974;602014;ORPHA30924	criteria provided, single submitter	tagSNP	rs1057515636
Clinvar_Rec_13725	rs12349389	Likely benign	Choreoacanthocytosis	RCV000277646	MedGen;OMIM;Orphanet	C0393576;200150;ORPHA2388	criteria provided, single submitter	tagSNP	rs12349389
Clinvar_Rec_13726	rs12349389	Likely benign	Choreoacanthocytosis	RCV000392188	MedGen;OMIM;Orphanet	C0393576;200150;ORPHA2388	criteria provided, single submitter	LD derived	rs11145366
Clinvar_Rec_13727	rs754391863	Uncertain significance	Choreoacanthocytosis	RCV000332391	MedGen;OMIM;Orphanet	C0393576;200150;ORPHA2388	criteria provided, single submitter	tagSNP	rs754391863
Clinvar_Rec_13728	rs3177	Likely benign	Choreoacanthocytosis	RCV000351792	MedGen;OMIM;Orphanet	C0393576;200150;ORPHA2388	criteria provided, single submitter	tagSNP	rs3177
Clinvar_Rec_13729	rs1057517807	Conflicting interpretations of pathogenicity	Neu-laxova syndrome 2;not provided	RCV000819927;RCV000414424	MedGen;OMIM	C4015019;616038;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057517807
Clinvar_Rec_13730	rs3739474	Benign	Phosphoserine aminotransferase deficiency	RCV000402103	MedGen;OMIM;Orphanet	C1970253;610992;ORPHA284417	criteria provided, single submitter	tagSNP	rs3739474
Clinvar_Rec_13731	rs747311061	Pathogenic	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	RCV000677204	MedGen;OMIM;Orphanet	C4310720;617093;ORPHA541423	no assertion criteria provided	tagSNP	rs747311061
Clinvar_Rec_13732	rs1769257	Benign	Fructose-biphosphatase deficiency;not specified	RCV000329413;RCV000242276	MedGen;OMIM;Orphanet;SNOMED CT	C0016756;229700;ORPHA348;28183005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1769257
Clinvar_Rec_13733	rs865779742	Uncertain significance	Fructose-biphosphatase deficiency	RCV000697603	MedGen;OMIM;Orphanet;SNOMED CT	C0016756;229700;ORPHA348;28183005	criteria provided, single submitter	tagSNP	rs865779742
Clinvar_Rec_13734	rs576888897	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001011455;RCV000205771;RCV000120972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	LD derived	rs201063698
Clinvar_Rec_13735	rs201063698	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001011455;RCV000205771;RCV000120972	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201063698
Clinvar_Rec_13736	rs1057516313	Likely pathogenic	Fanconi anemia, complementation group C	RCV000412286	MedGen;OMIM	C3468041;227645	criteria provided, single submitter	tagSNP	rs1057516313
Clinvar_Rec_13737	rs146447673	Conflicting interpretations of pathogenicity	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000689524;RCV001021957	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs146447673
Clinvar_Rec_13738	rs56230654	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001021949;RCV000475987	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs56230654
Clinvar_Rec_13739	rs571030658	Conflicting interpretations of pathogenicity	Gorlin syndrome;not specified	RCV000696239;RCV000418788	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs571030658
Clinvar_Rec_13740	rs377484697	Uncertain significance	Gorlin syndrome	RCV000468539	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs377484697
Clinvar_Rec_13741	rs187104739	Conflicting interpretations of pathogenicity	Gorlin syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000200618;RCV000567164;RCV000489808;RCV000780653	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs187104739
Clinvar_Rec_13742	rs775499386	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000576053;RCV000628450	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs775499386
Clinvar_Rec_13743	rs769022340	Uncertain significance	Gorlin syndrome	RCV000532573	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs769022340
Clinvar_Rec_13744	rs776937004	Conflicting interpretations of pathogenicity	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000226600;RCV000570217	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs776937004
Clinvar_Rec_13745	rs765348942	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000231544;RCV001021898	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs765348942
Clinvar_Rec_13746	rs1204950098	Likely benign	Gorlin syndrome	RCV000628459	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1204950098
Clinvar_Rec_13747	rs58629309	Benign/Likely benign	Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly sequence;not provided	RCV000206161;RCV000564820;RCV000292696;RCV000586238	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C0079541;ORPHA2162;30915001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs58629309
Clinvar_Rec_13748	rs1057515719	Uncertain significance	Gorlin syndrome;Holoprosencephaly sequence	RCV000379807;RCV000322928	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;Human Phenotype Ontology;C0079541;ORPHA2162;30915001	criteria provided, single submitter	tagSNP	rs1057515719
Clinvar_Rec_13749	rs1554698582	Likely pathogenic	Gorlin syndrome	RCV000553910	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1554698582
Clinvar_Rec_13750	rs1554698613	Pathogenic	Gorlin syndrome	RCV000628414	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1554698613
Clinvar_Rec_13751	rs1060502286	Pathogenic	Gorlin syndrome	RCV000464019	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1060502286
Clinvar_Rec_13752	rs1234871751	Uncertain significance	Gorlin syndrome	RCV000705737	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1234871751
Clinvar_Rec_13753	rs1564053040	Pathogenic	Gorlin syndrome	RCV000697396	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1564053040
Clinvar_Rec_13754	rs1131690973	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492082	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690973
Clinvar_Rec_13755	rs1060502299	Uncertain significance	Gorlin syndrome	RCV000472872	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1060502299
Clinvar_Rec_13756	rs1554702067	Uncertain significance	Gorlin syndrome	RCV000531688	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1554702067
Clinvar_Rec_13757	rs777897973	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000563183	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs777897973
Clinvar_Rec_13758	rs1060502284	Uncertain significance	Gorlin syndrome	RCV000460060	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs1060502284
Clinvar_Rec_13759	rs864622583	Pathogenic	Gorlin syndrome	RCV000205973	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs864622583
Clinvar_Rec_13760	rs772407797	Conflicting interpretations of pathogenicity	Gorlin syndrome;Hereditary cancer-predisposing syndrome	RCV000457591;RCV000492344	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs772407797
Clinvar_Rec_13761	rs1131690968	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492530	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131690968
Clinvar_Rec_13762	rs746435405	Uncertain significance	Gorlin syndrome	RCV000206189	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs746435405
Clinvar_Rec_13763	rs183777820	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000570647;RCV000197821;RCV000421939	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs140417636
Clinvar_Rec_13764	rs138729094	Uncertain significance	Gorlin syndrome	RCV000471042	MedGen;OMIM;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002	criteria provided, single submitter	tagSNP	rs138729094
Clinvar_Rec_13765	rs138729094	Uncertain significance	Gorlin syndrome;Hereditary cancer-predisposing syndrome;not specified	RCV000462282;RCV001011386;RCV000121882	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0004779;109400;ORPHA377;69408002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138729094
Clinvar_Rec_13766	rs144477083	Uncertain significance	Cataract, autosomal recessive congenital 4	RCV000648858	MedGen;OMIM	C3151304;613887	criteria provided, single submitter	tagSNP	rs144477083
Clinvar_Rec_13767	rs3176753	Likely benign	Xeroderma pigmentosum	RCV000390745	MedGen;Orphanet;SNOMED CT	C0043346;ORPHA910;44600005	criteria provided, single submitter	tagSNP	rs3176753
Clinvar_Rec_13768	rs34701111	Benign	Epileptic encephalopathy	RCV000544461	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs34701111
Clinvar_Rec_13769	rs144985640	Uncertain significance	Epileptic encephalopathy	RCV000689172	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs144985640
Clinvar_Rec_13770	rs146370762	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575999;RCV000464914	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146370762
Clinvar_Rec_13771	rs1472145598	Uncertain significance	Colorectal cancer	RCV000590910	MedGen	C1527249	criteria provided, single submitter	tagSNP	rs1472145598
Clinvar_Rec_13772	rs558230410	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000339759;RCV000301181;RCV000405391	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	LD derived	rs189032587
Clinvar_Rec_13773	rs886063222	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000299669;RCV000405232;RCV000338312	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886063222
Clinvar_Rec_13774	rs200018073	Uncertain significance	Cardiovascular phenotype;Familial keratoacanthoma;Loeys-Dietz syndrome 1;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000619245;RCV000766034;RCV000623797;RCV000766034;RCV000696683;RCV000199482	MedGen;OMIM;Orphanet;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet	CN230736;MedGen;132800;ORPHA493;ORPHA65748;MedGen;609192;ORPHA97295;MedGen;609192;ORPHA97295;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200018073
Clinvar_Rec_13775	rs1554701914	Likely pathogenic	Loeys-Dietz syndrome 1	RCV000623721	MedGen;OMIM;Orphanet	C4551955;609192;ORPHA97295	criteria provided, single submitter	tagSNP	rs1554701914
Clinvar_Rec_13776	rs200274678	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000377888;RCV000268496;RCV000321311	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs200274678
Clinvar_Rec_13777	rs886063252	Uncertain significance	Loeys-Dietz syndrome;Loeys-Dietz syndrome 1;Thoracic aortic aneurysm and aortic dissection	RCV000336133;RCV000297519;RCV000400688	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet	C2697932;ORPHA60030;446263001;MedGen;609192;ORPHA97295;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs886063252
Clinvar_Rec_13778	rs529195050	Conflicting interpretations of pathogenicity	Congenital disorder of glycosylation;not provided	RCV000359629;RCV000904680	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs529195050
Clinvar_Rec_13779	rs146770430	Conflicting interpretations of pathogenicity	ALG2-CDG;Myasthenic syndrome, congenital, 14;not provided;not specified	RCV000766035;RCV000766035;RCV000871003;RCV000436134	MedGen;OMIM;Orphanet;OMIM	C1842836;607906;ORPHA79326;MedGen;616228;MedGen	criteria provided, conflicting interpretations	tagSNP	rs146770430
Clinvar_Rec_13780	rs746092484	Uncertain significance	ALG2-CDG;Myasthenic syndrome, congenital, 14	RCV000700710;RCV000700710	MedGen;OMIM;Orphanet;OMIM	C1842836;607906;ORPHA79326;MedGen;616228	criteria provided, single submitter	tagSNP	rs746092484
Clinvar_Rec_13781	rs140382423	Uncertain significance	ALG2-CDG;Congenital disorder of glycosylation;Myasthenic syndrome, congenital, 14	RCV000800603;RCV000264928;RCV000800603	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM	C1842836;607906;ORPHA79326;MedGen;ORPHA137;238049009;MedGen;616228	criteria provided, multiple submitters, no conflicts	tagSNP	rs140382423
Clinvar_Rec_13782	rs563355347	Pathogenic	Infantile nephronophthisis	RCV000012739	MedGen;OMIM;Orphanet;SNOMED CT	C1865872;602088;ORPHA93591;444558002	no assertion criteria provided	LD derived	rs267607185
Clinvar_Rec_13783	rs1554702425	Likely pathogenic	Hereditary fructosuria	RCV000664593	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	tagSNP	rs1554702425
Clinvar_Rec_13784	rs387906226	Pathogenic	Hereditary fructosuria	RCV000000503	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	no assertion criteria provided	tagSNP	rs387906226
Clinvar_Rec_13785	rs1057517091	Likely pathogenic	Hereditary fructosuria	RCV000410076	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008	criteria provided, single submitter	tagSNP	rs1057517091
Clinvar_Rec_13786	rs182003715	Conflicting interpretations of pathogenicity	Hereditary fructosuria;not provided	RCV000271472;RCV000941067	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0016751;229600;ORPHA469;20052008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs182003715
Clinvar_Rec_13787	rs538614702	Likely benign	Familial High Density Lipoprotein Deficiency;Tangier disease	RCV000350460;RCV000397059	MedGen;OMIM;Orphanet	CN239346;MedGen;205400;ORPHA31150	criteria provided, single submitter	tagSNP	rs538614702
Clinvar_Rec_13788	rs137854496	Uncertain significance	ABCA1-Related Disorders;Tangier disease	RCV000381095;RCV000010098	MedGen;OMIM;Orphanet	CN239173;MedGen;205400;ORPHA31150	criteria provided, single submitter	tagSNP	rs137854496
Clinvar_Rec_13789	rs2853574	Pathogenic	ABCA1-Related Disorders	RCV000778870	MedGen	CN239173	criteria provided, single submitter	tagSNP	rs2853574
Clinvar_Rec_13790	rs9282541	Conflicting interpretations of pathogenicity	Familial High Density Lipoprotein Deficiency;Tangier disease	RCV000402915;RCV000288241	MedGen;OMIM;Orphanet	CN239346;MedGen;205400;ORPHA31150	criteria provided, conflicting interpretations	tagSNP	rs9282541
Clinvar_Rec_13791	rs3747334	Benign	Asperger syndrome X-linked 2;History of neurodevelopmental disorder;not provided;not specified	RCV000999811;RCV000715473;RCV000755324;RCV000082035	MedGen;OMIM	C1845334;300497;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3747334
Clinvar_Rec_13792	rs3747334	Benign/Likely benign	Asperger syndrome X-linked 2;Autism, susceptibility to, X-linked 2;History of neurodevelopmental disorder;not provided;not specified	RCV000999812;RCV000990468;RCV000715488;RCV000949113;RCV000082034	MedGen;OMIM;OMIM	C1845334;300497;MedGen;300495;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3747333
Clinvar_Rec_13793	rs7049300	Benign	History of neurodevelopmental disorder;not specified	RCV000715489;RCV000082041	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7049300
Clinvar_Rec_13794	rs1057518787	Likely pathogenic	Nystagmus;Ocular albinism;Poor eye contact	RCV000414936;RCV000414936;RCV000414936	Human Phenotype Ontology;MedGen;MedGen;Orphanet;MedGen	HP;C0028738;Human Phenotype Ontology;C0078917;ORPHA284804;Human Phenotype Ontology;C1445953	criteria provided, single submitter	tagSNP	rs1057518787
Clinvar_Rec_13795	rs886038209	Pathogenic	Mental retardation, X-linked 104	RCV000252374	MedGen;OMIM	C4310817;300983	no assertion criteria provided	tagSNP	rs886038209
Clinvar_Rec_13796	rs1555900190	Uncertain significance	Joubert syndrome;Orofaciodigital syndrome I	RCV000543354;RCV000543354	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;Orphanet	HP;C0431399;ORPHA475;253175003;716997004;MedGen;311200;ORPHA2750	criteria provided, single submitter	tagSNP	rs1555900190
Clinvar_Rec_13797	rs312262806	Pathogenic	Orofaciodigital syndrome I	RCV000034023	MedGen;OMIM;Orphanet	C1510460;311200;ORPHA2750	no assertion criteria provided	tagSNP	rs312262806
Clinvar_Rec_13798	rs886039857	Pathogenic	Orofaciodigital syndrome I	RCV000256360	MedGen;OMIM;Orphanet	C1510460;311200;ORPHA2750	no assertion criteria provided	tagSNP	rs886039857
Clinvar_Rec_13799	rs312262881	Pathogenic	Orofaciodigital syndrome I	RCV000033980	MedGen;OMIM;Orphanet	C1510460;311200;ORPHA2750	no assertion criteria provided	tagSNP	rs312262881
Clinvar_Rec_13800	rs1569155243	Uncertain significance	History of neurodevelopmental disorder	RCV000719598	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1569155243
Clinvar_Rec_13801	rs587776719	association	Thyroxine-binding globulin quantitative trait locus	RCV000010457	MedGen;OMIM	C4310821;300932	no assertion criteria provided	tagSNP	rs587776719
Clinvar_Rec_13802	rs28933689	Pathogenic	Thyroxine-binding globulin deficiency, partial	RCV000010454	MedGen;SNOMED CT	C0271836;41300001	no assertion criteria provided	tagSNP	rs28933689
Clinvar_Rec_13803	rs104886445	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021198	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886445
Clinvar_Rec_13804	rs104886110	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021271	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886110
Clinvar_Rec_13805	rs104886114	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021285	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886114
Clinvar_Rec_13806	rs1569494882	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000714344	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs1569494882
Clinvar_Rec_13807	rs104886159	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021358	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886159
Clinvar_Rec_13808	rs104886160	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021359	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886160
Clinvar_Rec_13809	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021360;RCV000755964;RCV000248069	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7884085
Clinvar_Rec_13810	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021244;RCV000755962;RCV000244362	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272945
Clinvar_Rec_13811	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021277;RCV000755963;RCV000254318	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2272946
Clinvar_Rec_13812	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021390;RCV000755961;RCV000253038	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs3747408
Clinvar_Rec_13813	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021519;RCV000710874;RCV000245332	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2273051
Clinvar_Rec_13814	rs7884085	Benign	Alport syndrome 1, X-linked recessive;not provided;not specified	RCV000021601;RCV000829333;RCV000242252	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs61746140
Clinvar_Rec_13815	rs104886167	Pathogenic	Alport syndrome 1, X-linked recessive;not provided	RCV000021361;RCV000519831	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, single submitter	tagSNP	rs104886167
Clinvar_Rec_13816	rs104886171	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021381	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886171
Clinvar_Rec_13817	rs281874689	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000714439	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs281874689
Clinvar_Rec_13818	rs281874689	Pathogenic	Alport syndrome 1, X-linked recessive;not provided	RCV000021382;RCV001067665	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs281874689
Clinvar_Rec_13819	rs104886359	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021414	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886359
Clinvar_Rec_13820	rs1569498904	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000714399	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs1569498904
Clinvar_Rec_13821	rs281874713	Likely pathogenic	Alport syndrome 1, X-linked recessive	RCV000021500	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	criteria provided, single submitter	tagSNP	rs281874713
Clinvar_Rec_13822	rs104886244	Pathogenic	Alport syndrome 1, X-linked recessive;not provided	RCV000021530;RCV000991632	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, single submitter	tagSNP	rs104886244
Clinvar_Rec_13823	rs281874717	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021531	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs281874717
Clinvar_Rec_13824	rs1556445736	Pathogenic	Bilateral sensorineural hearing impairment;Global glomerulosclerosis;Hearing impairment;Nephritis;Proteinuria	RCV000626980;RCV000626980;RCV000626980;RCV000626980;RCV000626980	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0452138;Human Phenotype Ontology;C1865276;Human Phenotype Ontology;C1384666;Human Phenotype Ontology;C0027697;Human Phenotype Ontology;C0033687	criteria provided, single submitter	tagSNP	rs1556445736
Clinvar_Rec_13825	rs1569507398	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000714320	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs1569507398
Clinvar_Rec_13826	rs104886267	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021580	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886267
Clinvar_Rec_13827	rs281874732	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000032082	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs281874732
Clinvar_Rec_13828	rs281874753	Pathogenic	Alport syndrome 1, X-linked recessive;not provided	RCV000021665;RCV000681926	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs281874753
Clinvar_Rec_13829	rs771130284	Uncertain significance	Spinocerebellar ataxia, X-linked	RCV000190544	MedGen	CN232400	no assertion criteria provided	tagSNP	rs771130284
Clinvar_Rec_13830	rs797045520	Pathogenic	Abnormal cortical gyration	RCV000193265	Human Phenotype Ontology;MedGen	HP;C1856019	criteria provided, single submitter	tagSNP	rs797045520
Clinvar_Rec_13831	rs1556404991	Pathogenic	Subcortical laminar heterotopia, X-linked	RCV000503117	MedGen	C1848070	criteria provided, single submitter	tagSNP	rs1556404991
Clinvar_Rec_13832	rs587783529	Likely pathogenic	Heterotopia	RCV000145817	Human Phenotype Ontology;MedGen	HP;C0008519	criteria provided, single submitter	tagSNP	rs587783529
Clinvar_Rec_13833	rs199916064	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not specified	RCV000719193;RCV000602351	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	LD derived	rs149808406
Clinvar_Rec_13834	rs999307628	Uncertain significance	Danon disease;Hypertrophic cardiomyopathy	RCV000262006;RCV000356730	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	C0878677;300257;ORPHA34587;419097006;Human Phenotype Ontology;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs999307628
Clinvar_Rec_13835	rs1569477871	Pathogenic	Lymphoproliferative syndrome 2, X-linked	RCV000766125	MedGen;OMIM;Orphanet	C1845076;300635;ORPHA538934	no assertion criteria provided	tagSNP	rs1569477871
Clinvar_Rec_13836	rs762141177	Benign	Lymphoproliferative syndrome	RCV000309190	MedGen;Orphanet	CN228424;ORPHA238510	criteria provided, single submitter	tagSNP	rs762141177
Clinvar_Rec_13837	rs137853849	not provided	Lowe syndrome	RCV000059597	MedGen;OMIM;Orphanet;SNOMED CT	C0028860;309000;ORPHA534;79385002	no assertion provided	tagSNP	rs137853849
Clinvar_Rec_13838	rs753807510	Uncertain significance	Mental retardation, X-linked, syndromic, Raymond type	RCV000690755	MedGen;OMIM	C3275406;300799	criteria provided, single submitter	tagSNP	rs753807510
Clinvar_Rec_13839	rs748573163	Uncertain significance	Mental retardation, X-linked, syndromic, Raymond type	RCV000700466	MedGen;OMIM	C3275406;300799	criteria provided, multiple submitters, no conflicts	tagSNP	rs748573163
Clinvar_Rec_13840	rs750098055	Likely benign	Combined oxidative phosphorylation deficiency	RCV000295299	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs750098055
Clinvar_Rec_13841	rs724160014	Likely pathogenic	Deafness, X-linked 5	RCV000149857	MedGen;OMIM	C1845095;300614	no assertion criteria provided	tagSNP	rs724160014
Clinvar_Rec_13842	rs4830219	Benign	Hypothyroidism, central, and testicular enlargement;not specified	RCV000602855;RCV000242858	MedGen;OMIM;Orphanet	C3550963;300888;ORPHA329235;MedGen	criteria provided, single submitter	tagSNP	rs4830219
Clinvar_Rec_13843	rs137852480	Pathogenic, other	HPRT DETROIT;Lesch-Nyhan syndrome	RCV000010723;RCV000010722	na;MedGen;OMIM;Orphanet;SNOMED CT	C0023374;300322;ORPHA510;10406007	no assertion criteria provided	tagSNP	rs137852480
Clinvar_Rec_13844	rs1237021594	Uncertain significance	Myopathy with postural muscle atrophy, X-linked	RCV000646186	MedGen;OMIM;Orphanet	C2678055;300696;ORPHA178461	criteria provided, single submitter	tagSNP	rs1237021594
Clinvar_Rec_13845	rs267606811	Pathogenic	Myopathy with postural muscle atrophy, X-linked	RCV000012315	MedGen;OMIM;Orphanet	C2678055;300696;ORPHA178461	no assertion criteria provided	tagSNP	rs267606811
Clinvar_Rec_13846	rs201673579	not provided	CIC-DUX Sarcoma	RCV000993821	MedGen	C3899764	no assertion provided	tagSNP	rs201673579
Clinvar_Rec_13847	rs911146585	Uncertain significance	Inborn genetic diseases	RCV000622918	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs911146585
Clinvar_Rec_13848	rs1569539299	Likely benign	History of neurodevelopmental disorder	RCV000717149	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1569539299
Clinvar_Rec_13849	rs797045673	Pathogenic	Corpus callosum, partial agenesis of, X-linked;Hydrocephalus due to aqueductal stenosis;X-linked hydrocephalus syndrome;not provided	RCV000714717;RCV000193744;RCV000714718;RCV000494147	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1839909;304100;ORPHA1497;MedGen;307000;ORPHA2182;71779008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797045673
Clinvar_Rec_13850	rs104894761	Pathogenic	Nephrogenic syndrome of inappropriate antidiuresis	RCV000011601	MedGen;OMIM;Orphanet	C1845202;300539;ORPHA93606	no assertion criteria provided	tagSNP	rs104894761
Clinvar_Rec_13851	rs104894761	Likely pathogenic	Nephrogenic diabetes insipidus	RCV000029389	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007	criteria provided, single submitter	tagSNP	rs104894761
Clinvar_Rec_13852	rs111643041	not provided	Nephrogenic diabetes insipidus, X-linked;Nephrogenic syndrome of inappropriate antidiuresis	RCV000509119;RCV000509119	MedGen;OMIM;OMIM;Orphanet	C1563705;304800;MedGen;300539;ORPHA93606	no assertion provided	tagSNP	rs111643041
Clinvar_Rec_13853	rs782141948	Uncertain significance	Nephrogenic diabetes insipidus	RCV000306918	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0162283;ORPHA223;111395007	criteria provided, single submitter	tagSNP	rs782141948
Clinvar_Rec_13854	rs782364666	Uncertain significance	Mental retardation 3, X-linked	RCV000696305	MedGen;OMIM;Orphanet	C0796208;309541;ORPHA369962	criteria provided, single submitter	tagSNP	rs782364666
Clinvar_Rec_13855	rs267608354	Uncertain significance	Autism, susceptibility to, X-linked 3	RCV000132805	MedGen;OMIM	C1845336;300496	no assertion criteria provided	tagSNP	rs267608354
Clinvar_Rec_13856	rs267608632	Uncertain significance	Rett syndrome	RCV000133002	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608632
Clinvar_Rec_13857	rs1557135039	Pathogenic	Rett syndrome	RCV000498005	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	criteria provided, single submitter	tagSNP	rs1557135039
Clinvar_Rec_13858	rs3027927	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719389;RCV000712281;RCV000081199	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3027927
Clinvar_Rec_13859	rs375101073	Uncertain significance	Severe neonatal-onset encephalopathy with microcephaly;not specified	RCV000538875;RCV000194442	MedGen;OMIM;Orphanet	C1968556;300673;ORPHA209370;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs375101073
Clinvar_Rec_13860	rs267608624	Pathogenic	Rett syndrome	RCV000132987	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs267608624
Clinvar_Rec_13861	rs1557135091	Pathogenic	Severe neonatal-onset encephalopathy with microcephaly	RCV000645110	MedGen;OMIM;Orphanet	C1968556;300673;ORPHA209370	criteria provided, single submitter	tagSNP	rs1557135091
Clinvar_Rec_13862	rs61753973	Benign/Likely benign	Attention deficit hyperactivity disorder;Autism, susceptibility to, X-linked 3;History of neurodevelopmental disorder;Mental retardation, X-linked, syndromic 13;not provided;not specified	RCV000170236;RCV000170237;RCV000715544;RCV000132986;RCV000471943;RCV000146352	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;OMIM;OMIM;Orphanet	HP;C1263846;143465;406506008;MedGen;300496;MedGen;300055;ORPHA3077;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs61753973
Clinvar_Rec_13863	rs61753972	Pathogenic	Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly	RCV000132985;RCV000690876	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0035372;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370	criteria provided, multiple submitters, no conflicts	tagSNP	rs61753972
Clinvar_Rec_13864	rs1569548273	Uncertain significance	History of neurodevelopmental disorder	RCV000720729	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1569548273
Clinvar_Rec_13865	rs63749064	Pathogenic	Rett syndrome	RCV000132978	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs63749064
Clinvar_Rec_13866	rs28934907	Pathogenic/Likely pathogenic	History of neurodevelopmental disorder;Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;not provided;not specified	RCV000715146;RCV000012585;RCV000552837;RCV000255874;RCV001000318	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C2711754;MedGen;312750;ORPHA778;68618008;MedGen;300673;ORPHA209370;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28934907
Clinvar_Rec_13867	rs28934907	Uncertain significance	Rett syndrome	RCV000133065	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs28934907
Clinvar_Rec_13868	rs786205047	Pathogenic	Rett syndrome	RCV000170293	MedGen;OMIM;Orphanet;SNOMED CT	C0035372;312750;ORPHA778;68618008	no assertion criteria provided	tagSNP	rs786205047
Clinvar_Rec_13869	rs374068639	Likely benign	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640798;RCV000640798;RCV000640798;RCV000640798	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs374068639
Clinvar_Rec_13870	rs782633080	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000524900;RCV000524900;RCV000524900;RCV000524900	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs782633080
Clinvar_Rec_13871	rs786205180	Likely pathogenic	Periventricular nodular heterotopia 1	RCV000170400	MedGen;OMIM;SNOMED CT	C1848213;300049;448227009	criteria provided, single submitter	tagSNP	rs786205180
Clinvar_Rec_13872	rs199853721	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;History of neurodevelopmental disorder;not provided;not specified	RCV000244567;RCV000720675;RCV000762689;RCV000192632	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199853721
Clinvar_Rec_13873	rs267606782	Pathogenic	Emery-Dreifuss muscular dystrophy 1, X-linked;Emery-Dreifuss muscular dystrophy, X-linked;not provided	RCV000802953;RCV000011922;RCV000254894	MedGen;OMIM;Orphanet;Orphanet	C0751337;310300;ORPHA431272;MedGen;ORPHA98863;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267606782
Clinvar_Rec_13874	rs886044771	Pathogenic	Emery-Dreifuss muscular dystrophy 1, X-linked;not provided	RCV001068392;RCV000518435	MedGen;OMIM;Orphanet	C0751337;310300;ORPHA431272;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886044771
Clinvar_Rec_13875	rs387906727	risk factor	Autism, susceptibility to, X-linked 5	RCV000022883	MedGen;OMIM	C3275438;300847	no assertion criteria provided	tagSNP	rs387906727
Clinvar_Rec_13876	rs60187105	Benign	Cardiovascular phenotype;History of neurodevelopmental disorder;not provided;not specified	RCV000250387;RCV000715658;RCV000757304;RCV000117060	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs12008807
Clinvar_Rec_13877	rs60187105	Benign	Cardiovascular phenotype;History of neurodevelopmental disorder;not provided;not specified	RCV000244921;RCV000715929;RCV000757305;RCV000117054	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs79391751
Clinvar_Rec_13878	rs2230286	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000716973;RCV000950885;RCV000117139	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2230286
Clinvar_Rec_13879	rs149367480	Uncertain significance	Autistic disorder of childhood onset;Microtia	RCV000477925;RCV000477925	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT;MedGen;Orphanet	HP;C0004352;209850;43614003;Human Phenotype Ontology;C0152423;ORPHA83463	no assertion criteria provided	tagSNP	rs149367480
Clinvar_Rec_13880	rs179363867	Likely pathogenic	Ectodermal dysplasia and immunodeficiency 1;not provided	RCV000589891;RCV000059075	MedGen;OMIM;Orphanet	C1846006;300291;ORPHA98813;MedGen	criteria provided, single submitter	tagSNP	rs179363867
Clinvar_Rec_13881	rs139348729	Uncertain significance	Hemophilia A, FVIII Deficiency	RCV000292116	MedGen	CN239152	criteria provided, single submitter	tagSNP	rs139348729
Clinvar_Rec_13882	rs28937287	Pathogenic	Hereditary factor VIII deficiency disease	RCV000010984	MedGen;OMIM;Orphanet;SNOMED CT	C0019069;306700;ORPHA98878;28293008	no assertion criteria provided	tagSNP	rs28937287
Clinvar_Rec_13883	rs387906445	Pathogenic	Hereditary factor VIII deficiency disease	RCV000010933	MedGen;OMIM;Orphanet;SNOMED CT	C0019069;306700;ORPHA98878;28293008	no assertion criteria provided	tagSNP	rs387906445
Clinvar_Rec_13884	rs387906434	Pathogenic	Hereditary factor VIII deficiency disease	RCV000010872	MedGen;OMIM;Orphanet;SNOMED CT	C0019069;306700;ORPHA98878;28293008	no assertion criteria provided	tagSNP	rs387906434
Clinvar_Rec_13885	rs1060499666	Likely pathogenic	Multiple congenital anomalies-hypotonia-seizures syndrome 2	RCV000449490	MedGen;OMIM;Orphanet	C3275508;300868;ORPHA300496	criteria provided, single submitter	tagSNP	rs1060499666
Clinvar_Rec_13886	rs1555949011	Pathogenic	Angelman syndrome-like;Early infantile epileptic encephalopathy 2	RCV000640485;RCV000640485	MedGen;OMIM;Orphanet	CN128785;MedGen;300672;ORPHA505652	criteria provided, single submitter	tagSNP	rs1555949011
Clinvar_Rec_13887	rs267608546	Pathogenic	Angelman syndrome;Early infantile epileptic encephalopathy 2	RCV000133391;RCV000012261	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0162635;105830;ORPHA72;76880004;MedGen;300672;ORPHA505652	no assertion criteria provided	tagSNP	rs267608546
Clinvar_Rec_13888	rs762708691	Uncertain significance	Atypical Rett syndrome	RCV000170060	MedGen;Orphanet	C2748910;ORPHA3095	no assertion criteria provided	tagSNP	rs762708691
Clinvar_Rec_13889	rs267608623	Pathogenic	Atypical Rett syndrome	RCV000133321	MedGen;Orphanet	C2748910;ORPHA3095	no assertion criteria provided	tagSNP	rs267608623
Clinvar_Rec_13890	rs786204972	Pathogenic	Atypical Rett syndrome	RCV000170001	MedGen;Orphanet	C2748910;ORPHA3095	no assertion criteria provided	tagSNP	rs786204972
Clinvar_Rec_13891	rs1555952101	Pathogenic	Early infantile epileptic encephalopathy 2	RCV000503987	MedGen;OMIM;Orphanet	C4750718;300672;ORPHA505652	criteria provided, single submitter	tagSNP	rs1555952101
Clinvar_Rec_13892	rs199469696	Uncertain significance	Juvenile retinoschisis;Macular schisis;Peripheral schisis	RCV000058876;RCV000058876;RCV000058876	MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C3714753;312700;ORPHA792;86923008;Human Phenotype Ontology;C4023321;MedGen	no assertion criteria provided	tagSNP	rs199469696
Clinvar_Rec_13893	rs61752145	Likely pathogenic	Retinal dystrophy;not provided	RCV001075784;RCV000085283	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;MedGen	criteria provided, single submitter	tagSNP	rs61752145
Clinvar_Rec_13894	rs1569297379	Pathogenic	Glycogen storage disease type IXa1	RCV000688946	MedGen;OMIM	C3694531;306000	criteria provided, single submitter	tagSNP	rs1569297379
Clinvar_Rec_13895	rs146631734	Benign/Likely benign	Glycogen storage disease type IXa1;not provided;not specified	RCV000612357;RCV000659146;RCV000438064	MedGen;OMIM	C3694531;306000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146631734
Clinvar_Rec_13896	rs863224148	Pathogenic/Likely pathogenic	Inborn genetic diseases;Pyruvate dehydrogenase E1-alpha deficiency;not provided	RCV000624128;RCV000692713;RCV000505722	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;312170;ORPHA79243;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs863224148
Clinvar_Rec_13897	rs193922457	Likely pathogenic	Familial X-linked hypophosphatemic vitamin D refractory rickets	RCV000030355	MedGen;OMIM;Orphanet;SNOMED CT	C0733682;307800;ORPHA89936;82236004	criteria provided, single submitter	tagSNP	rs193922457
Clinvar_Rec_13898	rs992351585	Uncertain significance	History of neurodevelopmental disorder;Inborn genetic diseases	RCV000718067;RCV000623041	MedGen;MedGen	C2711754;MeSH;C0950123	criteria provided, single submitter	tagSNP	rs992351585
Clinvar_Rec_13899	rs1569221445	Uncertain significance	Charcot-Marie-Tooth disease, X-linked dominant, 6	RCV000694093	MedGen;OMIM;Orphanet	C3806702;300905;ORPHA352675	criteria provided, single submitter	tagSNP	rs1569221445
Clinvar_Rec_13900	rs797045289	Pathogenic	Lissencephaly 2, X-linked	RCV000192868	MedGen;OMIM;Orphanet	C1846171;300215;ORPHA452	criteria provided, single submitter	tagSNP	rs797045289
Clinvar_Rec_13901	rs104894741	Pathogenic	Lissencephaly 2, X-linked	RCV000011948	MedGen;OMIM;Orphanet	C1846171;300215;ORPHA452	no assertion criteria provided	tagSNP	rs104894741
Clinvar_Rec_13902	rs1569395305	Uncertain significance	Epileptic encephalopathy, early infantile, 1;Mental retardation, with or without seizures, ARX-related, X-linked	RCV000701316;RCV000701316	MedGen;OMIM;Orphanet;Orphanet;OMIM	C3463992;308350;ORPHA3175;ORPHA364063;MedGen;300419	criteria provided, single submitter	tagSNP	rs1569395305
Clinvar_Rec_13903	rs1555972641	Pathogenic	Congenital adrenal hypoplasia, X-linked	RCV000583254	MedGen;OMIM;Orphanet;SNOMED CT	C0342482;300200;ORPHA95702;237764004	no assertion criteria provided	tagSNP	rs1555972641
Clinvar_Rec_13904	rs1555972994	Pathogenic	Congenital adrenal hypoplasia, X-linked	RCV000581862	MedGen;OMIM;Orphanet;SNOMED CT	C0342482;300200;ORPHA95702;237764004	no assertion criteria provided	tagSNP	rs1555972994
Clinvar_Rec_13905	rs1555973010	Pathogenic	46,XY sex reversal, type 2;Congenital adrenal hypoplasia, X-linked	RCV000528817;RCV000528817	MedGen;OMIM;OMIM;Orphanet;SNOMED CT	C1848296;300018;MedGen;300200;ORPHA95702;237764004	criteria provided, single submitter	tagSNP	rs1555973010
Clinvar_Rec_13906	rs1057515857	Uncertain significance	Dilated cardiomyopathy 3B	RCV000344554	MedGen;OMIM	C3668940;302045	criteria provided, single submitter	tagSNP	rs1057515857
Clinvar_Rec_13907	rs863225018	Pathogenic	Duchenne muscular dystrophy	RCV000201198	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs863225018
Clinvar_Rec_13908	rs1348920866	Uncertain significance	Cardiovascular phenotype	RCV000618824	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1348920866
Clinvar_Rec_13909	rs1556046080	Pathogenic	Duchenne muscular dystrophy	RCV000545307	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs1556046080
Clinvar_Rec_13910	rs1556320083	Uncertain significance	Duchenne muscular dystrophy;not provided	RCV000554971;RCV000788497	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1556320083
Clinvar_Rec_13911	rs766256437	Uncertain significance	Dilated cardiomyopathy 3B	RCV000399045	MedGen;OMIM	C3668940;302045	criteria provided, single submitter	tagSNP	rs766256437
Clinvar_Rec_13912	rs1569530432	Pathogenic	Duchenne muscular dystrophy;not provided	RCV000690515;RCV000711471	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1569530432
Clinvar_Rec_13913	rs781748062	Uncertain significance	Duchenne muscular dystrophy	RCV000526573	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs781748062
Clinvar_Rec_13914	rs1057515867	Uncertain significance	Dilated cardiomyopathy 3B	RCV000298326	MedGen;OMIM	C3668940;302045	criteria provided, single submitter	tagSNP	rs1057515867
Clinvar_Rec_13915	rs1800280	Benign	Becker muscular dystrophy;Duchenne muscular dystrophy;not provided;not specified	RCV000576762;RCV000576762;RCV000206630;RCV000124712	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0917713;300376;ORPHA98895;387732009;MedGen;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800280
Clinvar_Rec_13916	rs1800280	Benign	Duchenne muscular dystrophy;not specified	RCV000990591;RCV000152765	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1800280
Clinvar_Rec_13917	rs868688877	Pathogenic	Duchenne muscular dystrophy;not provided	RCV000810778;RCV000727668	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs868688877
Clinvar_Rec_13918	rs116283249	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000617868;RCV000723438;RCV000080813	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs116283249
Clinvar_Rec_13919	rs1556656847	Pathogenic	Duchenne muscular dystrophy	RCV000630497	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs1556656847
Clinvar_Rec_13920	rs1556880327	Likely pathogenic	Elevated serum creatine phosphokinase;Progressive proximal muscle weakness	RCV000626858;RCV000626858	Human Phenotype Ontology;MedGen;OMIM;MedGen	HP;C0241005;123320;Human Phenotype Ontology;C1836156	criteria provided, single submitter	tagSNP	rs1556880327
Clinvar_Rec_13921	rs34102501	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000621386;RCV000514541;RCV000212487	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34102501
Clinvar_Rec_13922	rs372917491	Uncertain significance	Duchenne muscular dystrophy	RCV000547470	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs372917491
Clinvar_Rec_13923	rs72468630	Benign	Cardiovascular phenotype;not provided	RCV000621389;RCV000537267	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72468630
Clinvar_Rec_13924	rs761764494	Uncertain significance	Duchenne muscular dystrophy	RCV000548571	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs761764494
Clinvar_Rec_13925	rs1557320151	Pathogenic	Duchenne muscular dystrophy;not provided	RCV000820684;RCV000591669	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557320151
Clinvar_Rec_13926	rs3827462	Benign/Likely benign	Cardiovascular phenotype;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy;Primary dilated cardiomyopathy;not provided;not specified	RCV000249350;RCV000313769;RCV000470917;RCV000211434;RCV000991899;RCV000080576	MedGen;OMIM;OMIM;Orphanet;SNOMED CT;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;302045;MedGen;310200;ORPHA98896;76670001;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs3827462
Clinvar_Rec_13927	rs1557369413	Pathogenic	Duchenne muscular dystrophy	RCV000630529	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557369413
Clinvar_Rec_13928	rs1569563678	Pathogenic	Duchenne muscular dystrophy	RCV000714701	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs1569563678
Clinvar_Rec_13929	rs1060502616	Uncertain significance	Duchenne muscular dystrophy	RCV000468817	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs1060502616
Clinvar_Rec_13930	rs1557380569	Uncertain significance	Duchenne muscular dystrophy;not provided	RCV000700632;RCV000597155	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1557380569
Clinvar_Rec_13931	rs398123904	Likely benign	Duchenne muscular dystrophy	RCV000630634	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs398123904
Clinvar_Rec_13932	rs863224981	Pathogenic	Duchenne muscular dystrophy	RCV000201011	MedGen;OMIM;Orphanet;SNOMED CT	C0013264;310200;ORPHA98896;76670001	criteria provided, single submitter	tagSNP	rs863224981
Clinvar_Rec_13933	rs781266050	Benign	Primary ciliary dyskinesia	RCV000558728	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244	criteria provided, single submitter	tagSNP	rs781266050
Clinvar_Rec_13934	rs41312104	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000476587;RCV000085069;RCV000078650	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs41312104
Clinvar_Rec_13935	rs41312104	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000458656;RCV000085068;RCV000078649	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs62653033
Clinvar_Rec_13936	rs62653033	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000458656;RCV000085068;RCV000078649	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs62653033
Clinvar_Rec_13937	rs62653033	Benign	Primary ciliary dyskinesia;not provided;not specified	RCV000476587;RCV000085069;RCV000078650	Human Phenotype Ontology;MedGen;Orphanet	HP;C0008780;ORPHA244;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs41312104
Clinvar_Rec_13938	rs1555964122	Likely pathogenic	Retinitis pigmentosa	RCV000505061	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;D012174;C0035334;268000;ORPHA791;28835009	no assertion criteria provided	tagSNP	rs1555964122
Clinvar_Rec_13939	rs1555965107	Pathogenic	Retinitis pigmentosa 15	RCV000625592	MedGen;OMIM	C1848295;300029	no assertion criteria provided	tagSNP	rs1555965107
Clinvar_Rec_13940	rs5917592	Benign	History of neurodevelopmental disorder;ORNITHINE TRANSCARBAMYLASE POLYMORPHISM;Ornithine carbamoyltransferase deficiency;not specified	RCV000715362;RCV000011741;RCV000268490;RCV000079082	MedGen;OMIM;Orphanet;SNOMED CT	C2711754;na;MedGen;311250;ORPHA664;80908008;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1800321
Clinvar_Rec_13941	rs72558465	Likely pathogenic	Ornithine carbamoyltransferase deficiency;not provided	RCV000011755;RCV000083607	MedGen;OMIM;Orphanet;SNOMED CT	C0268542;311250;ORPHA664;80908008;MedGen	criteria provided, single submitter	tagSNP	rs72558465
Clinvar_Rec_13942	rs1555913337	Likely pathogenic	Adenoid cystic carcinoma	RCV000585738	MeSH;MedGen	D003528;C0010606	no assertion criteria provided	tagSNP	rs1555913337
Clinvar_Rec_13943	rs1569234653	Pathogenic	Mental retardation, X-linked 102;not provided	RCV000990793;RCV000760483	MedGen;OMIM;Orphanet	C4085582;300958;ORPHA457260;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1569234653
Clinvar_Rec_13944	rs369792621	Uncertain significance	History of neurodevelopmental disorder	RCV000720774	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs369792621
Clinvar_Rec_13945	rs141158465	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;not provided	RCV000716787;RCV000145401;RCV000646777	MedGen;OMIM;Orphanet	C2711754;MedGen;300749;ORPHA163937;MedGen	criteria provided, conflicting interpretations	tagSNP	rs141158465
Clinvar_Rec_13946	rs73198052	Benign	Non-syndromic X-linked intellectual disability	RCV000290177	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs72030542
Clinvar_Rec_13947	rs73198052	Benign	Non-syndromic X-linked intellectual disability	RCV000301213	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs55678135
Clinvar_Rec_13948	rs5906208	Benign	Non-syndromic X-linked intellectual disability	RCV000290177	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs72030542
Clinvar_Rec_13949	rs5906208	Benign	Non-syndromic X-linked intellectual disability	RCV000301213	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs55678135
Clinvar_Rec_13950	rs187237351	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000721071;RCV000906657;RCV000079386	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs187237351
Clinvar_Rec_13951	rs201330464	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000288551	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs201330464
Clinvar_Rec_13952	rs2003665	Benign	Non-syndromic X-linked intellectual disability	RCV000297434	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs5952893
Clinvar_Rec_13953	rs2003665	Benign	Non-syndromic X-linked intellectual disability	RCV000340659	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs55646680
Clinvar_Rec_13954	rs2003665	Benign	Non-syndromic X-linked intellectual disability	RCV000261177	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs371158087
Clinvar_Rec_13955	rs2003665	Benign	Non-syndromic X-linked intellectual disability	RCV000276643	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	LD derived	rs10156987
Clinvar_Rec_13956	rs10608095	Benign	Spinal muscular atrophy, X-linked 2;not specified	RCV000344795;RCV000424315	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs5953010
Clinvar_Rec_13957	rs10608095	Benign	Spinal muscular atrophy, X-linked 2;not specified	RCV000302595;RCV000430649	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2230147
Clinvar_Rec_13958	rs1025319944	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000358570	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs1025319944
Clinvar_Rec_13959	rs980619364	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000319036	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs980619364
Clinvar_Rec_13960	rs1198466921	Uncertain significance	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	RCV000694668	MedGen;OMIM;Orphanet	C1845343;300491;ORPHA85294	criteria provided, single submitter	tagSNP	rs1198466921
Clinvar_Rec_13961	rs765183335	Uncertain significance	History of neurodevelopmental disorder	RCV000718800	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs765183335
Clinvar_Rec_13962	rs797044864	Pathogenic	Inborn genetic diseases	RCV000190669	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs797044864
Clinvar_Rec_13963	rs1135401942	Uncertain significance	Mental retardation 9, X-linked	RCV000496850	MedGen;OMIM	C0796215;309549	criteria provided, single submitter	tagSNP	rs1135401942
Clinvar_Rec_13964	rs104894808	Pathogenic	Dyserythropoietic anemia with thrombocytopenia;GATA-1-related thrombocytopenia with dyserythropoiesis	RCV000011172;RCV000144259	MedGen;OMIM	C4016507;MedGen;300367	no assertion criteria provided	tagSNP	rs104894808
Clinvar_Rec_13965	rs104894816	Likely pathogenic	GATA-1-related thrombocytopenia with dyserythropoiesis;Thrombocytopenia;Thrombocytopenia, X-linked, without dyserythropoietic anemia	RCV000144258;RCV000852181;RCV000011169	MedGen;OMIM;MedGen	C3550789;300367;Human Phenotype Ontology;C0040034;MedGen	criteria provided, single submitter	tagSNP	rs104894816
Clinvar_Rec_13966	rs606231198	Benign/Likely benign	Renpenning syndrome 1;not provided;not specified	RCV000011731;RCV000870932;RCV000153765	MedGen;OMIM;Orphanet	C0796135;309500;ORPHA3242;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs606231198
Clinvar_Rec_13967	rs146079657	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000720773;RCV000473172;RCV000429903	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs146079657
Clinvar_Rec_13968	rs782643042	Uncertain significance	Neurodegeneration with brain iron accumulation 5	RCV000533015	MedGen;OMIM;Orphanet	C3550973;300894;ORPHA329284	criteria provided, single submitter	tagSNP	rs782643042
Clinvar_Rec_13969	rs1557084325	Uncertain significance	Neurodegeneration with brain iron accumulation 5	RCV000554436	MedGen;OMIM;Orphanet	C3550973;300894;ORPHA329284	criteria provided, single submitter	tagSNP	rs1557084325
Clinvar_Rec_13970	rs122467175	Pathogenic	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	RCV000012172	MedGen;OMIM;Orphanet;SNOMED CT	C0342288;304790;ORPHA37042;237618001	no assertion criteria provided	tagSNP	rs122467175
Clinvar_Rec_13971	rs367860281	Uncertain significance	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	RCV000524641	MedGen;OMIM;Orphanet;SNOMED CT	C0342288;304790;ORPHA37042;237618001	criteria provided, single submitter	tagSNP	rs367860281
Clinvar_Rec_13972	rs122467174	Pathogenic	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	RCV000012171	MedGen;OMIM;Orphanet;SNOMED CT	C0342288;304790;ORPHA37042;237618001	no assertion criteria provided	tagSNP	rs122467174
Clinvar_Rec_13973	rs782602018	Uncertain significance	Hypophosphatemic rickets, X-linked recessive	RCV000710033	MedGen;OMIM	C1845168;300554	criteria provided, single submitter	tagSNP	rs782602018
Clinvar_Rec_13974	rs963123113	Uncertain significance	Dent's disease	RCV000363440	MedGen;Orphanet;SNOMED CT	C0878681;ORPHA1652;444645005	criteria provided, single submitter	tagSNP	rs963123113
Clinvar_Rec_13975	rs200629644	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000717948;RCV000647972;RCV000440445	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200629644
Clinvar_Rec_13976	rs148128199	Likely benign	Cornelia de Lange Syndrome	RCV000343474	MedGen	CN239271	criteria provided, single submitter	tagSNP	rs148128199
Clinvar_Rec_13977	rs782694197	Uncertain significance	History of neurodevelopmental disorder	RCV000719521	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs782694197
Clinvar_Rec_13978	rs149893977	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000718179;RCV000973168;RCV000192820	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs149893977
Clinvar_Rec_13979	rs1557102649	Likely benign	History of neurodevelopmental disorder	RCV000719821	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1557102649
Clinvar_Rec_13980	rs781824188	Likely benign	History of neurodevelopmental disorder	RCV000717755	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs781824188
Clinvar_Rec_13981	rs12011120	Benign	History of neurodevelopmental disorder;not specified	RCV000715582;RCV000081091	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs12011120
Clinvar_Rec_13982	rs12011120	Benign	History of neurodevelopmental disorder;not specified	RCV000715571;RCV000081094	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs1126744
Clinvar_Rec_13983	rs1057515971	Conflicting interpretations of pathogenicity	Sideroblastic Anemia and Ataxia;not specified	RCV000268610;RCV000599912	MedGen	CN239162;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1057515971
Clinvar_Rec_13984	rs137852301	Pathogenic	Anemia, sideroblastic, 1	RCV000011216	MedGen;OMIM;Orphanet	C4551511;300751;ORPHA75563	no assertion criteria provided	tagSNP	rs137852301
Clinvar_Rec_13985	rs782087438	Uncertain significance	History of neurodevelopmental disorder	RCV000718586	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs782087438
Clinvar_Rec_13986	rs782671712	Likely benign	Early infantile epileptic encephalopathy 8	RCV000536493	MedGen;OMIM;Orphanet	C1845102;300607;ORPHA163985	criteria provided, single submitter	tagSNP	rs782671712
Clinvar_Rec_13987	rs398122877	Pathogenic	Osteopathia striata with cranial sclerosis	RCV000030705	MedGen;OMIM;Orphanet;SNOMED CT	C0432268;300373;ORPHA2780;254129003	no assertion criteria provided	tagSNP	rs398122877
Clinvar_Rec_13988	rs515726133	Uncertain significance	Hypohidrotic X-linked ectodermal dysplasia	RCV000032791	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	no assertion criteria provided	tagSNP	rs515726133
Clinvar_Rec_13989	rs137852588	Pathogenic	Hypospadias 1, X-linked	RCV000010514	MedGen;OMIM	C2678098;300633	no assertion criteria provided	tagSNP	rs137852588
Clinvar_Rec_13990	rs925822435	Pathogenic	Androgen resistance syndrome	RCV000583716	MedGen;OMIM;Orphanet;SNOMED CT	C0039585;300068;ORPHA754;12313004	no assertion criteria provided	tagSNP	rs925822435
Clinvar_Rec_13991	rs1555995856	Uncertain significance	Androgen resistance syndrome;Bulbo-spinal atrophy X-linked	RCV000537801;RCV000537801	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0039585;300068;ORPHA754;12313004;MedGen;313200;ORPHA206701	criteria provided, single submitter	tagSNP	rs1555995856
Clinvar_Rec_13992	rs137852585	Pathogenic	Androgen resistance syndrome	RCV000010511	MedGen;OMIM;Orphanet;SNOMED CT	C0039585;300068;ORPHA754;12313004	no assertion criteria provided	tagSNP	rs137852585
Clinvar_Rec_13993	rs137852577	Pathogenic	Androgen resistance syndrome;Androgen resistance syndrome;Bulbo-spinal atrophy X-linked;Partial androgen insensitivity syndrome	RCV000010529;RCV000640474;RCV000640474;RCV000010504	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C0039585;300068;ORPHA754;12313004;MedGen;300068;ORPHA754;12313004;MedGen;313200;ORPHA206701;MedGen;312300;ORPHA90797;58672003	criteria provided, single submitter	tagSNP	rs137852577
Clinvar_Rec_13994	rs1555997810	Pathogenic	Androgen resistance syndrome	RCV000583496	MedGen;OMIM;Orphanet;SNOMED CT	C0039585;300068;ORPHA754;12313004	no assertion criteria provided	tagSNP	rs1555997810
Clinvar_Rec_13995	rs137852597	Pathogenic	Androgen resistance syndrome	RCV000010528	MedGen;OMIM;Orphanet;SNOMED CT	C0039585;300068;ORPHA754;12313004	no assertion criteria provided	tagSNP	rs137852597
Clinvar_Rec_13996	rs1057518963	Likely pathogenic	Congenital cerebellar hypoplasia;Delayed gross motor development;Hypoplasia of the corpus callosum;Nystagmus;Oligohydramnios;Seizures	RCV000415241;RCV000415241;RCV000415241;RCV000415241;RCV000415241;RCV000415241	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;MedGen;MedGen;MedGen;MedGen	HP;C0266470;213000;ORPHA1398;16026008;Human Phenotype Ontology;C1837658;Human Phenotype Ontology;C0344482;Human Phenotype Ontology;C0028738;Human Phenotype Ontology;C0079924;Human Phenotype Ontology;C0036572	criteria provided, single submitter	tagSNP	rs1057518963
Clinvar_Rec_13997	rs1569404873	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	RCV000011793	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	no assertion criteria provided	tagSNP	rs1569404873
Clinvar_Rec_13998	rs397516675	Likely pathogenic	Hypohidrotic X-linked ectodermal dysplasia	RCV000037187	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	criteria provided, single submitter	tagSNP	rs397516675
Clinvar_Rec_13999	rs397516675	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	RCV000150600	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	criteria provided, single submitter	tagSNP	rs397516675
Clinvar_Rec_14000	rs1556110180	Uncertain significance	Hypohidrotic X-linked ectodermal dysplasia	RCV000633504	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	criteria provided, single submitter	tagSNP	rs1556110180
Clinvar_Rec_14001	rs483352804	Likely pathogenic	Tooth agenesis, selective, X-linked, 1	RCV000767532	MedGen;OMIM	C1970757;313500	no assertion criteria provided	tagSNP	rs483352804
Clinvar_Rec_14002	rs483352804	not provided	Tooth agenesis, selective, X-linked, 1	RCV000128525	MedGen;OMIM	C1970757;313500	no assertion provided	tagSNP	rs483352804
Clinvar_Rec_14003	rs876657687	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	RCV000222108	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	criteria provided, single submitter	tagSNP	rs876657687
Clinvar_Rec_14004	rs1556110308	Pathogenic	Hypohidrotic X-linked ectodermal dysplasia	RCV000555399	MedGen;OMIM;Orphanet;SNOMED CT	C0162359;305100;ORPHA181;239007005	criteria provided, single submitter	tagSNP	rs1556110308
Clinvar_Rec_14005	rs1556330562	Pathogenic	X-linked severe combined immunodeficiency	RCV000638841	MedGen;OMIM;Orphanet;SNOMED CT	C1279481;300400;ORPHA276;203592006	criteria provided, single submitter	tagSNP	rs1556330562
Clinvar_Rec_14006	rs199469676	not provided	Uterine leiomyoma	RCV000077816	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469676
Clinvar_Rec_14007	rs199469678	not provided	Uterine leiomyoma	RCV000077819	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469678
Clinvar_Rec_14008	rs199469667	not provided	Uterine leiomyoma	RCV000077820	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469667
Clinvar_Rec_14009	rs199469685	not provided	Uterine leiomyoma	RCV000077827	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469685
Clinvar_Rec_14010	rs199469686	not provided	Uterine leiomyoma	RCV000077828	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469686
Clinvar_Rec_14011	rs199469688	not provided	Uterine leiomyoma	RCV000077830	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469688
Clinvar_Rec_14012	rs199469669	other	Angiosarcoma;Uterine leiomyoma	RCV000505562;RCV000077836	Human Phenotype Ontology;MeSH;MedGen;Orphanet;MedGen;OMIM;SNOMED CT	HP;D006394;C0018923;ORPHA263413;Human Phenotype Ontology;C0042133;150699;95315005	no assertion criteria provided	tagSNP	rs199469669
Clinvar_Rec_14013	rs199469669	not provided	Uterine leiomyoma	RCV000077837	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469669
Clinvar_Rec_14014	rs199469669	not provided	Uterine leiomyoma	RCV000077838	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469669
Clinvar_Rec_14015	rs199469672	other	Uterine leiomyoma;Wilms Tumor	RCV000077839;RCV000505615	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005;MedGen	no assertion criteria provided	tagSNP	rs199469672
Clinvar_Rec_14016	rs199469672	not provided	Uterine leiomyoma	RCV000077840	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469672
Clinvar_Rec_14017	rs199469672	not provided	Uterine leiomyoma	RCV000077841	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0042133;150699;95315005	no assertion provided	tagSNP	rs199469672
Clinvar_Rec_14018	rs80338758	Pathogenic	Abnormal facial shape;Broad thumb;FG syndrome 1;FG syndrome 1;Global developmental delay;Imperforate anus;Intellectual disability;Ohdo syndrome, X-linked;X-linked mental retardation with marfanoid habitus syndrome	RCV000415294;RCV000415294;RCV000012276;RCV000763632;RCV000415294;RCV000415294;RCV000415294;RCV000763632;RCV000763632	Human Phenotype Ontology;MedGen;MedGen;OMIM;Orphanet;OMIM;Orphanet;MedGen;MedGen;OMIM;OMIM;SNOMED CT;MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	HP;C0424503;Human Phenotype Ontology;C0426891;MedGen;305450;ORPHA93932;MedGen;305450;ORPHA93932;Human Phenotype Ontology;C0557874;Human Phenotype Ontology;C0003466;207500;301800;204731006;Human Phenotype Ontology;C1843367;MedGen;300895;ORPHA293707;MedGen;309520;ORPHA776;422437002	criteria provided, multiple submitters, no conflicts	tagSNP	rs80338758
Clinvar_Rec_14019	rs387907361	Pathogenic	Ohdo syndrome, X-linked	RCV000043500	MedGen;OMIM;Orphanet	C3698541;300895;ORPHA293707	no assertion criteria provided	tagSNP	rs387907361
Clinvar_Rec_14020	rs965896553	Uncertain significance	FG syndrome 1	RCV000698988	MedGen;OMIM;Orphanet	C0220769;305450;ORPHA93932	criteria provided, single submitter	tagSNP	rs965896553
Clinvar_Rec_14021	rs1555937224	Uncertain significance	Charcot-Marie-Tooth disease;not specified	RCV000789925;RCV000518316	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen	criteria provided, single submitter	tagSNP	rs1555937224
Clinvar_Rec_14022	rs398122909	Conflicting interpretations of pathogenicity	Cornelia de Lange syndrome 5;Intellectual disability;not specified	RCV000032918;RCV001030829;RCV000211117	MedGen;OMIM;MedGen	C3550903;300882;Human Phenotype Ontology;C1843367;MedGen	criteria provided, conflicting interpretations	tagSNP	rs398122909
Clinvar_Rec_14023	rs1057518730	Pathogenic	Mental retardation, X-linked 98	RCV000414773	MedGen;OMIM;Orphanet	C3806730;300912;ORPHA85277	no assertion criteria provided	tagSNP	rs1057518730
Clinvar_Rec_14024	rs1340989	Benign	Sideroblastic Anemia and Ataxia;not specified	RCV000271662;RCV000123443	MedGen	CN239162;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1340989
Clinvar_Rec_14025	rs1064796812	Uncertain significance	ATRX-Related Disorder;Acquired hemoglobin H disease;Mental retardation-hypotonic facies syndrome X-linked, 1;not provided	RCV000509350;RCV000678264;RCV000678264;RCV000481959	na;MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0585216;300448;ORPHA231401;307343001;MedGen;309580;ORPHA93972;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1064796812
Clinvar_Rec_14026	rs111725949	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not specified	RCV000719241;RCV000499963	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs111725949
Clinvar_Rec_14027	rs35738915	Benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715797;RCV000542709;RCV000078956	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35738915
Clinvar_Rec_14028	rs797045362	Likely pathogenic	Menkes kinky-hair syndrome	RCV000193806	MedGen;OMIM;Orphanet;SNOMED CT	C0022716;309400;ORPHA565;59178007	criteria provided, single submitter	tagSNP	rs797045362
Clinvar_Rec_14029	rs765734398	Uncertain significance	Cleft palate X-linked	RCV000302811	MedGen;OMIM	C1844830;303400	criteria provided, single submitter	tagSNP	rs765734398
Clinvar_Rec_14030	rs34244923	Likely benign	Cleft palate X-linked	RCV000364607	MedGen;OMIM	C1844830;303400	criteria provided, single submitter	tagSNP	rs34244923
Clinvar_Rec_14031	rs1057516004	Uncertain significance	Non-syndromic X-linked intellectual disability	RCV000395426	MedGen;Orphanet	C3501611;ORPHA777	criteria provided, single submitter	tagSNP	rs1057516004
Clinvar_Rec_14032	rs1454033665	Pathogenic	Deafness, X-linked 2	RCV000770854	MedGen;OMIM;Orphanet	C1844678;304400;ORPHA383	no assertion criteria provided	tagSNP	rs1454033665
Clinvar_Rec_14033	rs1452944576	Uncertain significance	Early infantile epileptic encephalopathy 9	RCV000526406	MedGen;OMIM;Orphanet	C1848137;300088;ORPHA101039	criteria provided, single submitter	tagSNP	rs1452944576
Clinvar_Rec_14034	rs1569314377	Uncertain significance	History of neurodevelopmental disorder	RCV000718050	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1569314377
Clinvar_Rec_14035	rs753757730	Uncertain significance	Early infantile epileptic encephalopathy 9	RCV000641133	MedGen;OMIM;Orphanet	C1848137;300088;ORPHA101039	criteria provided, single submitter	tagSNP	rs753757730
Clinvar_Rec_14036	rs761225832	Uncertain significance	Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked	RCV000459233	MedGen;OMIM	C1845070;300643	criteria provided, single submitter	tagSNP	rs761225832
Clinvar_Rec_14037	rs80356560	Pathogenic	Deafness dystonia syndrome	RCV000012073	MedGen;OMIM;Orphanet	C0796074;304700;ORPHA52368	no assertion criteria provided	tagSNP	rs80356560
Clinvar_Rec_14038	rs869320667	Pathogenic	Deafness dystonia syndrome	RCV000012078	MedGen;OMIM;Orphanet	C0796074;304700;ORPHA52368	no assertion criteria provided	tagSNP	rs869320667
Clinvar_Rec_14039	rs869320664	Pathogenic	Deafness dystonia syndrome	RCV000012070	MedGen;OMIM;Orphanet	C0796074;304700;ORPHA52368	no assertion criteria provided	tagSNP	rs869320664
Clinvar_Rec_14040	rs193922124	Pathogenic	X-linked agammaglobulinemia	RCV000029409	MedGen;OMIM;Orphanet;SNOMED CT	C0221026;300755;ORPHA47;65880007	criteria provided, single submitter	tagSNP	rs193922124
Clinvar_Rec_14041	rs1555985569	Uncertain significance	Cardiovascular phenotype	RCV000619070	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555985569
Clinvar_Rec_14042	rs727503072	Likely pathogenic	Fabry disease	RCV000150748	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0002986;301500;ORPHA324;16652001	criteria provided, single submitter	tagSNP	rs727503072
Clinvar_Rec_14043	rs188425909	Conflicting interpretations of pathogenicity	Fabry disease;Hypertrophic cardiomyopathy;not provided;not specified	RCV000391328;RCV000352576;RCV000859021;RCV000035304	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet	HP;C0002986;301500;ORPHA324;16652001;Human Phenotype Ontology;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	LD derived	rs201449986
Clinvar_Rec_14044	rs1569427275	Likely pathogenic	Pelizaeus-Merzbacher disease	RCV000768444	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0205711;312080;ORPHA702;64855000	no assertion criteria provided	tagSNP	rs1569427275
Clinvar_Rec_14045	rs2233697	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000715934;RCV000712769;RCV000117996	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2233697
Clinvar_Rec_14046	rs2233697	Benign/Likely benign	Hereditary spastic paraplegia 2;not provided	RCV000204678;RCV000514040	MedGen;OMIM;Orphanet	C1839264;312920;ORPHA99015;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2233695
Clinvar_Rec_14047	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000332990	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	tagSNP	rs112752558
Clinvar_Rec_14048	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000291979	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs138368723
Clinvar_Rec_14049	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000327453	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs113943151
Clinvar_Rec_14050	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000378356	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs113017735
Clinvar_Rec_14051	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000395667	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs111753946
Clinvar_Rec_14052	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000368472	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs112656442
Clinvar_Rec_14053	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000324156	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs113641934
Clinvar_Rec_14054	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000320222	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs112965744
Clinvar_Rec_14055	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000372509	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs111648332
Clinvar_Rec_14056	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000389768	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs113415246
Clinvar_Rec_14057	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000293018	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs112388598
Clinvar_Rec_14058	rs112752558	Likely benign	Neurodegeneration with brain iron accumulation 4	RCV000397742	MedGen;OMIM;Orphanet	C3280371;614298;ORPHA289560	criteria provided, single submitter	LD derived	rs111959875
Clinvar_Rec_14059	rs568371168	Conflicting interpretations of pathogenicity	ALG3-CDG;not provided	RCV000662048;RCV000896802	MedGen;OMIM;Orphanet	C1832736;601110;ORPHA79321;MedGen	criteria provided, conflicting interpretations	tagSNP	rs568371168
Clinvar_Rec_14060	rs1049448	Benign	Leukoencephalopathy with ataxia;not specified	RCV000201823;RCV000203168	MedGen;OMIM;Orphanet	C3810242;615651;ORPHA363540;MedGen	criteria provided, single submitter	LD derived	rs2228292
Clinvar_Rec_14061	rs1049448	Benign	Epilepsy with grand mal seizures on awakening;Leukoencephalopathy with ataxia;not specified	RCV000613314;RCV000201839;RCV000202972	MedGen;OMIM;SNOMED CT;OMIM;Orphanet	C2750893;607628;230414008;MedGen;615651;ORPHA363540;MedGen	criteria provided, single submitter	LD derived	rs111656822
Clinvar_Rec_14062	rs200936631	Pathogenic	Leukoencephalopathy with vanishing white matter;not provided	RCV000006310;RCV001064868	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854;MedGen	criteria provided, single submitter	LD derived	rs113994054
Clinvar_Rec_14063	rs1055082816	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000649420;RCV000649420	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1055082816
Clinvar_Rec_14064	rs1553997625	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000537028;RCV000537028	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1553997625
Clinvar_Rec_14065	rs148246073	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not provided;not specified	RCV000575599;RCV000390055;RCV000343277;RCV000304507;RCV000514856;RCV000607544	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;MedGen;OMIM	C0027672;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148246073
Clinvar_Rec_14066	rs1126411	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV001026538;RCV000559467;RCV000559467	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs1126411
Clinvar_Rec_14067	rs876660932	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV001019215;RCV000692412;RCV000692412	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs876660932
Clinvar_Rec_14068	rs876660932	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000218749	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876660932
Clinvar_Rec_14069	rs746165168	Pathogenic	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV000567631;RCV000232152;RCV000232152	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs746165168
Clinvar_Rec_14070	rs199844384	Uncertain significance	Dilated cardiomyopathy 1GG;Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5;Paragangliomas 5;not provided	RCV000765832;RCV000563279;RCV000765832;RCV000463749;RCV000765832;RCV000411606;RCV000463749;RCV000765832;RCV000498298	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;OMIM;OMIM	C3150898;613642;MedGen;ORPHA140162;699346009;MedGen;256000;ORPHA506;29570005;MedGen;252011;ORPHA3208;MedGen;252011;ORPHA3208;MedGen;614165;MedGen;614165;MedGen;614165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199844384
Clinvar_Rec_14071	rs1170030451	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000573955;RCV000864334	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1170030451
Clinvar_Rec_14072	rs137852768	Pathogenic	Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency	RCV000009286;RCV000009284	MedGen;OMIM;OMIM;Orphanet	C3150898;613642;MedGen;252011;ORPHA3208	no assertion criteria provided	tagSNP	rs137852768
Clinvar_Rec_14073	rs878854630	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000233512;RCV000233512	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs878854630
Clinvar_Rec_14074	rs1420345359	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000545606;RCV000545606	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1420345359
Clinvar_Rec_14075	rs1561016316	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5	RCV000698069;RCV000698069	MedGen;OMIM;Orphanet;OMIM	C1855008;252011;ORPHA3208;MedGen;614165	criteria provided, single submitter	tagSNP	rs1561016316
Clinvar_Rec_14076	rs375396913	Uncertain significance	Mitochondrial complex II deficiency;Paragangliomas 5;Paragangliomas 5	RCV000793459;RCV000662705;RCV000793459	MedGen;OMIM;Orphanet;OMIM;OMIM	C1855008;252011;ORPHA3208;MedGen;614165;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs375396913
Clinvar_Rec_14077	rs375396913	Uncertain significance	Hereditary cancer-predisposing syndrome;Mitochondrial complex II deficiency;Paragangliomas 5	RCV001013731;RCV000204436;RCV000204436	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;252011;ORPHA3208;MedGen;614165	criteria provided, multiple submitters, no conflicts	tagSNP	rs375396913
Clinvar_Rec_14078	rs138016489	Likely benign	History of neurodevelopmental disorder;not provided	RCV000716585;RCV000900204	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138016489
Clinvar_Rec_14079	rs1554064863	Pathogenic	Inborn genetic diseases	RCV000623954	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1554064863
Clinvar_Rec_14080	rs121908408	Pathogenic	Chondrocalcinosis 2, sporadic	RCV000005507	MedGen	C4016917	no assertion criteria provided	tagSNP	rs121908408
Clinvar_Rec_14081	rs1210158408	Pathogenic	Polycystic liver disease	RCV000758157	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0158683;ORPHA2924;72925005	no assertion criteria provided	tagSNP	rs1210158408
Clinvar_Rec_14082	rs879255642	Pathogenic	POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE	RCV000239474	-	-	no assertion criteria provided	tagSNP	rs879255642
Clinvar_Rec_14083	rs574916292	Uncertain significance	Hereditary sensory neuropathy type IF	RCV000698997	MedGen;OMIM	C3810194;615632	criteria provided, single submitter	tagSNP	rs574916292
Clinvar_Rec_14084	rs1052779395	Uncertain significance	Hereditary sensory neuropathy type IF	RCV000651998	MedGen;OMIM	C3810194;615632	criteria provided, single submitter	tagSNP	rs1052779395
Clinvar_Rec_14085	rs111895237	Likely benign	Hyperparathyroidism;Multiple endocrine neoplasia	RCV000398124;RCV000285411	Human Phenotype Ontology;MedGen;Orphanet;Orphanet;SNOMED CT	HP;C0020502;ORPHA181408;MedGen;ORPHA276161;46724008	criteria provided, single submitter	tagSNP	rs111895237
Clinvar_Rec_14086	rs199909967	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000491869;RCV000196618	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199909967
Clinvar_Rec_14087	rs566631933	Uncertain significance	Bardet-Biedl syndrome	RCV000558593	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	LD derived	rs540217506
Clinvar_Rec_14088	rs138902236	Conflicting interpretations of pathogenicity	Familial Isolated Pituitary Adenomas;Hereditary cancer-predisposing syndrome;not provided	RCV000294654;RCV000567733;RCV000733441	MedGen;Orphanet;SNOMED CT	CN239192;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138902236
Clinvar_Rec_14089	rs199543483	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex I deficiency;not provided;not specified	RCV000284822;RCV000393780;RCV000939143;RCV000424374	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199543483
Clinvar_Rec_14090	rs371426372	Uncertain significance	Leigh syndrome;Mitochondrial complex I deficiency	RCV000267146;RCV000354895	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs371426372
Clinvar_Rec_14091	rs397514618	Pathogenic	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	RCV000033056	MedGen;OMIM	C4748737;618222	no assertion criteria provided	tagSNP	rs397514618
Clinvar_Rec_14092	rs1267554976	Likely pathogenic	Leigh syndrome	RCV000578254	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs1267554976
Clinvar_Rec_14093	rs753843211	Uncertain significance	Epilepsy, familial temporal lobe, 8	RCV000696476	MedGen;OMIM	C4225318;616461	criteria provided, single submitter	tagSNP	rs753843211
Clinvar_Rec_14094	rs5030805	Pathogenic	Von Hippel-Lindau syndrome	RCV000767244	MedGen;OMIM;Orphanet;SNOMED CT	C0019562;193300;ORPHA892;46659004	criteria provided, single submitter	tagSNP	rs5030805
Clinvar_Rec_14095	rs375467519	Uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	RCV000388092	MedGen	CN239237	criteria provided, single submitter	tagSNP	rs375467519
Clinvar_Rec_14096	rs1060502503	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000457838	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs1060502503
Clinvar_Rec_14097	rs1554934309	Likely pathogenic	Niemann-Pick disease, type A	RCV000671732	MedGen;OMIM;Orphanet;SNOMED CT	C0268242;257200;ORPHA77292;52165006	criteria provided, single submitter	tagSNP	rs1554934309
Clinvar_Rec_14098	rs985064686	Pathogenic	Short rib-polydactyly syndrome, Majewski type;not provided	RCV000515987;RCV000756417	MedGen;OMIM;Orphanet;SNOMED CT	C0024507;263520;ORPHA93269;72922008;MedGen	criteria provided, single submitter	tagSNP	rs985064686
Clinvar_Rec_14099	rs868443488	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000775625	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs868443488
Clinvar_Rec_14100	rs1181255434	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000574182;RCV001048192	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1181255434
Clinvar_Rec_14101	rs730881675	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;Melanoma-pancreatic cancer syndrome	RCV000160406;RCV000458351;RCV000576843	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;606719;ORPHA404560	criteria provided, multiple submitters, no conflicts	tagSNP	rs730881675
Clinvar_Rec_14102	rs1334828764	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774857	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1334828764
Clinvar_Rec_14103	rs1057519883	Likely pathogenic	Adenocarcinoma of prostate;Adenocarcinoma of stomach;Carcinoma of esophagus;Lung adenocarcinoma;Malignant melanoma of skin;Neoplasm of the large intestine;Pancreatic adenocarcinoma;Papillary renal cell carcinoma, sporadic;Squamous cell carcinoma of the head and neck;Squamous cell lung carcinoma;Transitional cell carcinoma of the bladder	RCV000437073;RCV000419517;RCV000439922;RCV000431877;RCV000418516;RCV000428098;RCV000438349;RCV000426306;RCV000428790;RCV000418706;RCV000421584	MedGen;MedGen;Orphanet;MeSH;MedGen;MedGen;SNOMED CT;MeSH;MedGen;SNOMED CT;MedGen;MedGen;MedGen;OMIM;Orphanet;MedGen;MedGen	C0007112;MedGen;C0152018;ORPHA70482;Human Phenotype Ontology;C538231;C0152013;MeSH;C0151779;93655004;Human Phenotype Ontology;D015179;C0009404;126837005;Human Phenotype Ontology;C0281361;MeSH;C1336078;MeSH;C1168401;275355;ORPHA67037;Human Phenotype Ontology;C0149782;Human Phenotype Ontology;C0279680	no assertion criteria provided	tagSNP	rs1057519883
Clinvar_Rec_14104	rs200738474	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000569093	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs200738474
Clinvar_Rec_14105	rs200738474	Likely benign	Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma	RCV000163973;RCV000639002	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200738474
Clinvar_Rec_14106	rs191394143	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Melanoma-pancreatic cancer syndrome;not provided;not specified	RCV000129674;RCV000410804;RCV000590031;RCV000212397	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;606719;ORPHA404560;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs191394143
Clinvar_Rec_14107	rs730880079	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma;Primary dilated cardiomyopathy	RCV000793906;RCV000793906;RCV000157187	MedGen;OMIM;OMIM;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C1843896;607450;MedGen;605676;ORPHA65282;EFO;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs730880079
Clinvar_Rec_14108	rs397516941	Uncertain significance	Cardiomyopathy;not specified	RCV000770249;RCV000038051	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397516941
Clinvar_Rec_14109	rs794728124	Pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma	RCV000655930;RCV000619482;RCV000655930	MedGen;OMIM;OMIM;Orphanet	C1843896;607450;MedGen;605676;ORPHA65282	criteria provided, multiple submitters, no conflicts	tagSNP	rs794728124
Clinvar_Rec_14110	rs751460831	not provided	ACO2-related disorder	RCV000509125	-	-	no assertion provided	tagSNP	rs751460831
Clinvar_Rec_14111	rs786200924	Pathogenic	Infantile cerebellar-retinal degeneration	RCV000022421	MedGen;OMIM;Orphanet	C3281192;614559;ORPHA313850	no assertion criteria provided	tagSNP	rs786200924
Clinvar_Rec_14112	rs387907022	Pathogenic/Likely pathogenic	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins;Inborn genetic diseases;not provided	RCV000023804;RCV000623265;RCV000442392	MedGen;OMIM;Orphanet;MedGen	C3278664;613070;ORPHA217371;MeSH;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387907022
Clinvar_Rec_14113	rs281865029	Pathogenic	Pseudo-Hurler polydystrophy;Pseudo-Hurler polydystrophy	RCV000031974;RCV000671157	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0033788;252600;ORPHA423461;65764006;MedGen;252600;ORPHA423461;65764006	criteria provided, single submitter	tagSNP	rs281865029
Clinvar_Rec_14114	rs142493947	Likely benign	Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria	RCV000332777;RCV000270594	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C0398691;260920;ORPHA343;234538002;MedGen;610377;ORPHA29	criteria provided, single submitter	tagSNP	rs142493947
Clinvar_Rec_14115	rs780260944	Uncertain significance	Ehlers-Danlos syndrome, type 4	RCV000329215	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs780260944
Clinvar_Rec_14116	rs539430522	Likely benign	Ehlers-Danlos syndrome, type 4;not provided	RCV000270624;RCV000864518	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs539430522
Clinvar_Rec_14117	rs112185887	Benign/Likely benign	Cardiovascular phenotype;Connective tissue disease;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV000253152;RCV000680499;RCV000148458;RCV000769564;RCV000514955;RCV000181073	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs112185887
Clinvar_Rec_14118	rs587779673	Likely pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087668	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs587779673
Clinvar_Rec_14119	rs150670470	Uncertain significance	Ehlers-Danlos syndrome, type 4	RCV000539012	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs150670470
Clinvar_Rec_14120	rs35795890	Uncertain significance	Ehlers-Danlos syndrome, type 4	RCV000688885	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs35795890
Clinvar_Rec_14121	rs35795890	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided;not specified	RCV000250986;RCV000203161;RCV000769567;RCV000590111;RCV000124401	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;130050;ORPHA286;17025000;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35795890
Clinvar_Rec_14122	rs587779581	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087530	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs587779581
Clinvar_Rec_14123	rs587779689	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000087687	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs587779689
Clinvar_Rec_14124	rs397509373	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000018753	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	no assertion criteria provided	tagSNP	rs397509373
Clinvar_Rec_14125	rs1559061706	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, type 4;not provided	RCV000695723;RCV000755957	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1559061706
Clinvar_Rec_14126	rs752919642	Uncertain significance	Ehlers-Danlos syndrome, type 4	RCV000767940	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs752919642
Clinvar_Rec_14127	rs200052168	Uncertain significance	Cardiovascular phenotype	RCV000619524	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs200052168
Clinvar_Rec_14128	rs863224860	Likely pathogenic	Ehlers-Danlos syndrome, type 3;Ehlers-Danlos syndrome, type 4	RCV000195998;RCV000195998	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268337;130020;ORPHA285;30652003;MedGen;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs863224860
Clinvar_Rec_14129	rs1553509998	Likely benign	Cardiovascular phenotype	RCV000618994	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1553509998
Clinvar_Rec_14130	rs1553510000	Pathogenic	Ehlers-Danlos syndrome, type 4	RCV000624461	MedGen;OMIM;Orphanet;SNOMED CT	C0268338;130050;ORPHA286;17025000	criteria provided, single submitter	tagSNP	rs1553510000
Clinvar_Rec_14131	rs118149197	Likely benign	Familial Atypical Mycobacteriosis, Autosomal Dominant	RCV000317420	MedGen	CN239224	criteria provided, single submitter	tagSNP	rs118149197
Clinvar_Rec_14132	rs118203893	Pathogenic	Kearns Sayre syndrome	RCV000010161	MedGen;OMIM;Orphanet	C0022541;530000;ORPHA480	no assertion criteria provided	tagSNP	rs118203893
Clinvar_Rec_14133	rs1556423442	Benign	Brain pseudoatrophy, reversible, valproate-induced, susceptibility to;Leigh syndrome	RCV000010270;RCV000854170	MedGen;OMIM;Orphanet;SNOMED CT	C3888025;MedGen;256000;ORPHA506;29570005	criteria provided, single submitter	tagSNP	rs1556423442
Clinvar_Rec_14134	rs876661356	Benign	Leigh syndrome;not specified	RCV000854830;RCV000223843	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, single submitter	tagSNP	rs876661356
Clinvar_Rec_14135	rs786205087	Pathogenic	Dejerine-Sottas syndrome, autosomal dominant	RCV000008953	MedGen	C4016264	no assertion criteria provided	tagSNP	rs786205087
Clinvar_Rec_14136	rs797044846	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease and deafness	RCV000790172;RCV000195195	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;118300;ORPHA90658	no assertion criteria provided	tagSNP	rs797044846
Clinvar_Rec_14137	rs538192881	Likely benign	History of neurodevelopmental disorder	RCV000716789	MedGen	C2711754	criteria provided, single submitter	LD derived	rs549007649
Clinvar_Rec_14138	rs1555366045	Likely pathogenic	Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4	RCV000652517;RCV000652517	MedGen;OMIM;OMIM	C4015671;616247;MedGen;614916	criteria provided, single submitter	tagSNP	rs1555366045
Clinvar_Rec_14139	rs1060502207	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2O	RCV000470483	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232	criteria provided, single submitter	tagSNP	rs1060502207
Clinvar_Rec_14140	rs773232010	Likely benign	Charcot-Marie-Tooth disease, axonal, type 2O;History of neurodevelopmental disorder	RCV000539105;RCV000718770	MedGen;OMIM;Orphanet	C3280220;614228;ORPHA284232;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs773232010
Clinvar_Rec_14141	rs200945986	Uncertain significance	Aicardi-Goutieres syndrome 7;Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;Singleton-Merten syndrome 1	RCV000662135;RCV000688834;RCV000662136;RCV000688834	MedGen;OMIM;OMIM;OMIM;OMIM	C3888244;615846;MedGen;615846;MedGen;182250;MedGen;182250	criteria provided, multiple submitters, no conflicts	tagSNP	rs200945986
Clinvar_Rec_14142	rs2228528	Benign	Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not specified	RCV000375364;RCV000335722;RCV000278377;RCV000116994	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen;SNOMED CT	CN239231;ORPHA1466;MedGen;ORPHA191;21086008;Human Phenotype Ontology;C0024437;422338006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2228528
Clinvar_Rec_14143	rs761222362	Conflicting interpretations of pathogenicity	Dyskeratosis Congenita, Recessive;not provided	RCV000306780;RCV000866392	MedGen	CN239315;MedGen	criteria provided, conflicting interpretations	tagSNP	rs761222362
Clinvar_Rec_14144	rs121912676	Uncertain significance	Atrial septal defect 5;Dilated cardiomyopathy 1R;Familial hypertrophic cardiomyopathy 11;Familial hypertrophic cardiomyopathy 11;not specified	RCV000697168;RCV000697168;RCV000019991;RCV000697168;RCV000038323	MedGen;OMIM;OMIM;OMIM;OMIM	C2748552;612794;MedGen;613424;MedGen;612098;MedGen;612098;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121912676
Clinvar_Rec_14145	rs7168394	Benign	Mosaic variegated aneuploidy syndrome;not specified	RCV000459103;RCV000246516	MedGen;Orphanet	C1850343;ORPHA1052;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs7168394
Clinvar_Rec_14146	rs768279736	Uncertain significance	Mosaic variegated aneuploidy syndrome	RCV000698349	MedGen;Orphanet	C1850343;ORPHA1052	criteria provided, single submitter	tagSNP	rs768279736
Clinvar_Rec_14147	rs201632198	Conflicting interpretations of pathogenicity	Deafness, autosomal recessive 8;Rare genetic deafness;not provided	RCV000262015;RCV000211860;RCV000332878	MedGen;OMIM;Orphanet	C1832827;601072;MedGen;ORPHA96210;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201632198
Clinvar_Rec_14148	rs794727835	Conflicting interpretations of pathogenicity	Classic homocystinuria;not provided	RCV000675172;RCV000413538	MedGen;OMIM;Orphanet	C0751202;236200;ORPHA394;MedGen	criteria provided, conflicting interpretations	tagSNP	rs794727835
Clinvar_Rec_14149	rs769712423	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000246339;RCV000867156	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs769712423
Clinvar_Rec_14150	rs144693254	Benign/Likely benign	Seizures;not provided	RCV000715502;RCV000557287	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs144693254
Clinvar_Rec_14151	rs761504637	Uncertain significance	Progressive myoclonic epilepsy;not provided	RCV001041955;RCV000658431	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs761504637
Clinvar_Rec_14152	rs369547951	Uncertain significance	Progressive myoclonic epilepsy;not provided	RCV001064790;RCV000187281	MedGen;Orphanet;SNOMED CT	C0751778;ORPHA98261;267581004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs541671661
Clinvar_Rec_14153	rs780638665	Uncertain significance	Bethlem myopathy 1;not provided	RCV000819388;RCV000379667	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs780638665
Clinvar_Rec_14154	rs560750345	Uncertain significance	Bethlem myopathy 1;not provided	RCV001063787;RCV000596672	MedGen;OMIM	CN029274;158810;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs369945453
Clinvar_Rec_14155	rs886039579	Likely pathogenic	Beckwith-Wiedemann syndrome	RCV000628536	MedGen;OMIM;Orphanet;SNOMED CT	C0004903;130650;ORPHA116;81780002	criteria provided, single submitter	tagSNP	rs886039579
Clinvar_Rec_14156	rs121908090	Pathogenic	Dyskeratosis congenita autosomal recessive 1;Dyskeratosis congenita, autosomal recessive 2	RCV000032276;RCV000004502	MedGen;OMIM;OMIM	C1857144;224230;MedGen;613987	no assertion criteria provided	tagSNP	rs121908090
Clinvar_Rec_14157	rs1333837047	Uncertain significance	Dyskeratosis congenita	RCV000634489	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs1333837047
Clinvar_Rec_14158	rs79031130	Uncertain significance	Dyskeratosis Congenita, Recessive;Dyskeratosis congenita;not specified	RCV000274583;RCV000704479;RCV000503202	MedGen;Orphanet;SNOMED CT	CN239315;MedGen;ORPHA1775;74911008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs79031130
Clinvar_Rec_14159	rs145056421	Uncertain significance	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset	RCV000692971;RCV000692971	MedGen;OMIM;OMIM	C3888102;105550;MedGen;602080	criteria provided, single submitter	tagSNP	rs145056421
Clinvar_Rec_14160	rs769297000	Conflicting interpretations of pathogenicity	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone 2, early-onset;not specified	RCV001055830;RCV001055830;RCV000444659	MedGen;OMIM;OMIM	C3888102;105550;MedGen;602080;MedGen	criteria provided, conflicting interpretations	tagSNP	rs769297000
Clinvar_Rec_14161	rs1562908173	Pathogenic	Maple syrup urine disease, type 3	RCV000693958	MedGen;OMIM;Orphanet	CN043137;246900;ORPHA2394	criteria provided, single submitter	tagSNP	rs1562908173
Clinvar_Rec_14162	rs765332671	Uncertain significance	Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1	RCV000572542;RCV000704365	MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;Human Phenotype Ontology;D002292;C0007134;605074;ORPHA217071;41607009	criteria provided, multiple submitters, no conflicts	tagSNP	rs765332671
Clinvar_Rec_14163	rs764435162	Uncertain significance	Spastic paraplegia 78, autosomal recessive	RCV000811676	MedGen;OMIM;Orphanet	C4310662;617225;ORPHA513436	criteria provided, multiple submitters, no conflicts	tagSNP	rs764435162
Clinvar_Rec_14164	rs1557703957	Uncertain significance	History of neurodevelopmental disorder	RCV000720102	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs1557703957
Clinvar_Rec_14165	rs1131691058	Conflicting interpretations of pathogenicity	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV001058694;RCV000492396;RCV001058694;RCV001058694	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, conflicting interpretations	tagSNP	rs1131691058
Clinvar_Rec_14166	rs201928318	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000460428;RCV000460428;RCV000460428	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs201928318
Clinvar_Rec_14167	rs199809975	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000561330;RCV000841202	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199809975
Clinvar_Rec_14168	rs1060503760	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000469670;RCV000469670;RCV000469670	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1060503760
Clinvar_Rec_14169	rs1553177762	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 4;Pheochromocytoma	RCV000633962;RCV000633962;RCV000633962	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1553177762
Clinvar_Rec_14170	rs121917755	Uncertain significance	Gastrointestinal stromal tumor;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Pheochromocytoma	RCV000687053;RCV000590918;RCV000566270;RCV000687053;RCV000687053	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA29072;MedGen;ORPHA140162;699346009;MedGen;115310;Human Phenotype Ontology;C0031511;171300	criteria provided, multiple submitters, no conflicts	tagSNP	rs121917755
Clinvar_Rec_14171	rs121917755	Pathogenic	Pheochromocytoma	RCV000013629	Human Phenotype Ontology;MedGen;OMIM	HP;C0031511;171300	no assertion criteria provided	tagSNP	rs121917755
Clinvar_Rec_14172	rs111334879	Uncertain significance	Congenital disorder of glycosylation;not provided	RCV000263790;RCV000734677	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs111334879
Clinvar_Rec_14173	rs113534059	Benign/Likely benign	Hypophosphatasia;not provided	RCV000344290;RCV000710509	MedGen;Orphanet	C0020630;ORPHA436;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs112335417
Clinvar_Rec_14174	rs113534059	Benign/Likely benign	Hypophosphatasia;not provided	RCV000390811;RCV000514153	MedGen;Orphanet	C0020630;ORPHA436;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs34810399
Clinvar_Rec_14175	rs768850297	Uncertain significance	Diamond-Blackfan anemia	RCV000702260	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs768850297
Clinvar_Rec_14176	rs143617222	Likely benign	Diamond-Blackfan anemia	RCV000638830	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs143617222
Clinvar_Rec_14177	rs1553121678	Pathogenic	Diamond-Blackfan anemia 7	RCV000625833	MedGen;OMIM	C2675512;612562	criteria provided, single submitter	tagSNP	rs1553121678
Clinvar_Rec_14178	rs886046308	Uncertain significance	Diamond-Blackfan anemia	RCV000402164	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs886046308
Clinvar_Rec_14179	rs118204450	Pathogenic	Fucosidosis	RCV000000716	MedGen;OMIM;Orphanet;SNOMED CT	C0016788;230000;ORPHA349;64716005	criteria provided, single submitter	tagSNP	rs118204450
Clinvar_Rec_14180	rs115473437	Likely benign	SEPN1-Related Disorders	RCV000289813	MedGen	CN239420	criteria provided, single submitter	tagSNP	rs115473437
Clinvar_Rec_14181	rs775923229	Uncertain significance	Inborn genetic diseases	RCV000624238	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs775923229
Clinvar_Rec_14182	rs527236116	Pathogenic	Retinal dystrophy;Retinitis pigmentosa;Retinitis pigmentosa 31	RCV001074126;RCV000504822;RCV000001724	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen;609923	criteria provided, multiple submitters, no conflicts	tagSNP	rs527236116
Clinvar_Rec_14183	rs527236116	Pathogenic	Retinal dystrophy;Retinitis pigmentosa;not provided	RCV001073465;RCV000132654;RCV000657246	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0854723;ORPHA71862;314407005;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs527236116
Clinvar_Rec_14184	rs1563983151	Pathogenic	Retinal dystrophy;Retinitis pigmentosa 31	RCV001075070;RCV000678633	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM	HP;C0854723;ORPHA71862;314407005;MedGen;609923	criteria provided, single submitter	tagSNP	rs1563983151
Clinvar_Rec_14185	rs41274019	Uncertain significance	Congenital disorder of glycosylation	RCV000374366	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs41274019
Clinvar_Rec_14186	rs387906790	Pathogenic	Amyotrophic lateral sclerosis 14 without frontotemporal dementia	RCV000023066	MedGen	C3152097	no assertion criteria provided	tagSNP	rs387906790
Clinvar_Rec_14187	rs1554668804	Uncertain significance	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1	RCV000639649;RCV000639649	MedGen;OMIM;OMIM	C3151403;613954;MedGen;167320	criteria provided, single submitter	tagSNP	rs1554668804
Clinvar_Rec_14188	rs879074973	Uncertain significance	Amyotrophic Lateral Sclerosis, Dominant;Inclusion Body Myopathy, Dominant	RCV000359673;RCV000302695	MedGen	CN239175;MedGen	criteria provided, single submitter	tagSNP	rs879074973
Clinvar_Rec_14189	rs376668943	Uncertain significance	Distal arthrogryposis type 1A;Distal arthrogryposis type 2B;Nemaline myopathy 4	RCV000662079;RCV000662081;RCV000662080	MedGen;OMIM;OMIM;Orphanet;OMIM	C0220662;108120;MedGen;601680;ORPHA1147;MedGen;609285	criteria provided, single submitter	tagSNP	rs376668943
Clinvar_Rec_14190	rs1568098570	Likely pathogenic	Arrhythmogenic right ventricular cardiomyopathy, type 10	RCV000687934	MedGen;OMIM	C1857777;610193	criteria provided, single submitter	tagSNP	rs1568098570
Clinvar_Rec_14191	rs1554669288	Likely benign	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000648684;RCV000648684;RCV000648684;RCV000648684	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs1554669288
Clinvar_Rec_14192	rs562181035	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000695285;RCV000695285;RCV000695285;RCV000695285	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs562181035
Clinvar_Rec_14193	rs781812050	Uncertain significance	Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q	RCV000539460;RCV000539460;RCV000539460;RCV000539460	MedGen;OMIM;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet	C4225309;616487;MedGen;612138;ORPHA158684;MedGen;131950;ORPHA79401;398071000;MedGen;613723;ORPHA254361	criteria provided, single submitter	tagSNP	rs781812050
Clinvar_Rec_14194	rs587777041	Pathogenic	Mitochondrial complex III deficiency, nuclear type 6	RCV000056262	MedGen;OMIM	C3809553;615453	no assertion criteria provided	tagSNP	rs587777041
Clinvar_Rec_14195	rs149384210	Uncertain significance	Baller-Gerold syndrome	RCV000694517	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001	criteria provided, single submitter	LD derived	rs370624395
Clinvar_Rec_14196	rs1554854664	Uncertain significance	Brown-Vialetto-Van Laere syndrome 2	RCV000699870	MedGen;OMIM	C3553538;614707	criteria provided, single submitter	tagSNP	rs1554854664
Clinvar_Rec_14197	rs143033479	Likely benign	Holoprosencephaly sequence	RCV000334780	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0079541;ORPHA2162;30915001	criteria provided, single submitter	LD derived	rs147276162
Clinvar_Rec_14198	rs771538008	Pathogenic	Baller-Gerold syndrome;not provided	RCV000227479;RCV000599050	MedGen;OMIM;Orphanet;SNOMED CT	C0265308;218600;ORPHA1225;77608001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771538008
Clinvar_Rec_14199	rs80358258	Pathogenic	Niemann-Pick disease type C1	RCV000020231	MedGen;OMIM	C3179455;257220	no assertion criteria provided	tagSNP	rs80358258
Clinvar_Rec_14200	rs483352886	Pathogenic/Likely pathogenic	Niemann-Pick disease type C1;not provided	RCV000119327;RCV000725736	MedGen;OMIM	C3179455;257220;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs483352886
Clinvar_Rec_14201	rs786205141	Pathogenic	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	RCV000169752	MedGen;OMIM;Orphanet	C4225381;616295;ORPHA444138	no assertion criteria provided	tagSNP	rs786205141
Clinvar_Rec_14202	rs1554700678	Conflicting interpretations of pathogenicity	AU-KLINE SYNDROME;not provided	RCV000627090;RCV000522148	MedGen;OMIM;Orphanet	C4225274;616580;ORPHA453499;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1554700678
Clinvar_Rec_14203	rs587784011	Likely pathogenic	Cornelia de Lange syndrome 1	RCV000146687	MedGen;OMIM	C4551851;122470	criteria provided, single submitter	tagSNP	rs587784011
Clinvar_Rec_14204	rs863225153	Pathogenic	Joubert syndrome 17	RCV000201530	MedGen;OMIM	C3553264;614615	criteria provided, single submitter	tagSNP	rs863225153
Clinvar_Rec_14205	rs884928	Uncertain significance	Hereditary spastic paraplegia 7	RCV000640983	MedGen;OMIM;Orphanet	C1846564;607259;ORPHA99013	criteria provided, single submitter	LD derived	rs148199060
Clinvar_Rec_14206	rs1557446524	Likely pathogenic	Medium-chain acyl-coenzyme A dehydrogenase deficiency	RCV000779679	MedGen;OMIM;Orphanet;SNOMED CT	C0220710;201450;ORPHA42;128596003	criteria provided, single submitter	tagSNP	rs1557446524
Clinvar_Rec_14207	rs1433269866	Uncertain significance	Cardiovascular phenotype;Dilated cardiomyopathy 1CC;Familial hypertrophic cardiomyopathy 20	RCV000620700;RCV001054082;RCV001054082	MedGen;OMIM;OMIM	CN230736;MedGen;613122;MedGen;613876	criteria provided, multiple submitters, no conflicts	tagSNP	rs1433269866
Clinvar_Rec_14208	rs201806320	Uncertain significance	Cardiomyopathy;not specified	RCV000769823;RCV000215086	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201806320
Clinvar_Rec_14209	rs35366555	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided;not specified	RCV000245536;RCV000322509;RCV000283861;RCV000204884;RCV000154659	MedGen;MedGen;Orphanet	CN230736;MedGen;C0007194;ORPHA217569;MedGen	criteria provided, conflicting interpretations	tagSNP	rs35366555
Clinvar_Rec_14210	rs386833744	Likely pathogenic	Juvenile neuronal ceroid lipofuscinosis	RCV000049708	MedGen;OMIM;Orphanet;SNOMED CT	C0751383;204200;ORPHA79264;61663001	no assertion criteria provided	tagSNP	rs386833744
Clinvar_Rec_14211	rs386833744	Conflicting interpretations of pathogenicity	Neuronal ceroid lipofuscinosis;Retinitis pigmentosa;not provided	RCV000812919;RCV000504655;RCV000187016	MedGen;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;Human Phenotype Ontology;D012174;C0035334;268000;ORPHA791;28835009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs386833744
Clinvar_Rec_14212	rs763659524	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000698301	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs763659524
Clinvar_Rec_14213	rs766955342	Likely benign	Myasthenic syndrome, congenital, 8	RCV000651418	MedGen;OMIM	C3808739;615120	criteria provided, single submitter	tagSNP	rs766955342
Clinvar_Rec_14214	rs1553122929	Pathogenic	Parkinson disease 7;not provided	RCV001027964;RCV000517567	MedGen;OMIM	C1853445;606324;MedGen	criteria provided, single submitter	tagSNP	rs1553122929
Clinvar_Rec_14215	rs368420490	Uncertain significance	Parkinson disease 7	RCV000699924	MedGen;OMIM	C1853445;606324	criteria provided, single submitter	tagSNP	rs368420490
Clinvar_Rec_14216	rs797044594	Uncertain significance	Amyotrophic lateral sclerosis type 10;Amyotrophic lateral sclerosis type 10;TARDBP-related frontotemporal dementia;not provided	RCV000192195;RCV000795453;RCV000795453;RCV000713823	MedGen;OMIM;OMIM	C2677565;612069;MedGen;612069;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797044594
Clinvar_Rec_14217	rs1130529	Benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified	RCV000617317;RCV000350343;RCV000252620	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;225400;ORPHA1900;25606004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1130529
Clinvar_Rec_14218	rs35460537	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not specified	RCV000250618;RCV000266440;RCV000430533	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;225400;ORPHA1900;25606004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35460537
Clinvar_Rec_14219	rs35460537	Benign/Likely benign	Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not provided;not specified	RCV000250928;RCV000261133;RCV000755364;RCV000432052	MedGen;OMIM;Orphanet;SNOMED CT	CN230736;MedGen;225400;ORPHA1900;25606004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs879691
Clinvar_Rec_14220	rs121913554	Pathogenic	Ehlers-Danlos syndrome, hydroxylysine-deficient	RCV000015440	MedGen;OMIM;Orphanet;SNOMED CT	C0268342;225400;ORPHA1900;25606004	no assertion criteria provided	tagSNP	rs121913554
Clinvar_Rec_14221	rs201317502	Likely pathogenic	PIGT-related disorder;not provided	RCV000509187;RCV000414606	na;MedGen	CN517202	criteria provided, single submitter	tagSNP	rs201317502
Clinvar_Rec_14222	rs760351795	Uncertain significance	Congenital disorder of glycosylation type 1E	RCV000551442	MedGen;OMIM;Orphanet	C1837396;608799;ORPHA79322	criteria provided, single submitter	tagSNP	rs760351795
Clinvar_Rec_14223	rs35287986	Benign	Pseudohypoparathyroidism;not provided	RCV001007597;RCV000903826	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C3494506;103580;ORPHA79443;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs35287986
Clinvar_Rec_14224	rs137854538	Pathogenic	Pseudohypoparathyroidism	RCV000017311	Human Phenotype Ontology;MedGen;OMIM;Orphanet	HP;C3494506;103580;ORPHA79443	no assertion criteria provided	tagSNP	rs137854538
Clinvar_Rec_14225	rs137854537	Pathogenic	PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS	RCV000017309	MedGen	C4016140	no assertion criteria provided	tagSNP	rs137854537
Clinvar_Rec_14226	rs1554950703	Pathogenic	CARASIL	RCV000678044	MedGen;OMIM;Orphanet	C1838577;600142;ORPHA199354	criteria provided, single submitter	tagSNP	rs1554950703
Clinvar_Rec_14227	rs8177820	Uncertain significance	Porphobilinogen synthase deficiency	RCV000363405	MedGen;OMIM;Orphanet;SNOMED CT	C0268328;612740;ORPHA95157;64081000	criteria provided, single submitter	tagSNP	rs8177820
Clinvar_Rec_14228	rs139650842	Uncertain significance	Mitochondrial complex I deficiency	RCV000370310	MedGen	C2936907	criteria provided, single submitter	tagSNP	rs139650842
Clinvar_Rec_14229	rs148960463	Pathogenic	Malignant tumor of prostate	RCV000170554	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	criteria provided, single submitter	tagSNP	rs148960463
Clinvar_Rec_14230	rs1554150584	Uncertain significance	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	RCV000551180	MedGen;OMIM	C3150700;613443	criteria provided, single submitter	tagSNP	rs1554150584
Clinvar_Rec_14231	rs1310210930	Uncertain significance	Steinert myotonic dystrophy syndrome	RCV000785076	MedGen;OMIM;Orphanet;SNOMED CT	C3250443;160900;ORPHA273;77956009	criteria provided, single submitter	tagSNP	rs1310210930
Clinvar_Rec_14232	rs886054567	Uncertain significance	Glycogen storage disease 0, muscle	RCV000264756	MedGen;OMIM;Orphanet	C1969054;611556;ORPHA137625	criteria provided, single submitter	tagSNP	rs886054567
Clinvar_Rec_14233	rs144284975	Conflicting interpretations of pathogenicity	History of neurodevelopmental disorder;not provided;not specified	RCV000715076;RCV000726220;RCV000127475	MedGen	C2711754;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144284975
Clinvar_Rec_14234	rs367588704	Likely pathogenic	Deafness, autosomal dominant 4	RCV000770774	MedGen;OMIM	C1833503;600652	criteria provided, single submitter	tagSNP	rs367588704
Clinvar_Rec_14235	rs1426325954	Uncertain significance	Colorectal cancer 10;Hereditary cancer-predisposing syndrome	RCV000538343;RCV000568783	MedGen;OMIM;Orphanet;SNOMED CT	C2675481;612591;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs1426325954
Clinvar_Rec_14236	rs368758462	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000562017;RCV000457147;RCV000431427	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs368758462
Clinvar_Rec_14237	rs1555791323	Uncertain significance	Colorectal cancer 10	RCV000551345	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs1555791323
Clinvar_Rec_14238	rs371647100	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000567813;RCV000229903;RCV000420407	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs371647100
Clinvar_Rec_14239	rs750466994	Uncertain significance	Colorectal cancer 10	RCV000693424	MedGen;OMIM	C2675481;612591	criteria provided, single submitter	tagSNP	rs750466994
Clinvar_Rec_14240	rs1555791268	Conflicting interpretations of pathogenicity	Inborn genetic diseases;Mental retardation, autosomal dominant 36	RCV000623695;RCV000824836	MeSH;MedGen;OMIM;Orphanet	D030342;C0950123;MedGen;616362;ORPHA457284	criteria provided, conflicting interpretations	tagSNP	rs1555791268
Clinvar_Rec_14241	rs139793355	Uncertain significance	Ciliary dyskinesia, primary, 2;Primary ciliary dyskinesia	RCV000765474;RCV000326937	MedGen;OMIM;MedGen;Orphanet	C1847554;606763;Human Phenotype Ontology;C0008780;ORPHA244	criteria provided, multiple submitters, no conflicts	LD derived	rs200673226
Clinvar_Rec_14242	rs769256568	Pathogenic	Neu-Laxova syndrome 1;Phosphoglycerate dehydrogenase deficiency	RCV000625901;RCV000798475	MedGen;OMIM;OMIM;Orphanet	C4551478;256520;MedGen;601815;ORPHA79351	criteria provided, multiple submitters, no conflicts	tagSNP	rs769256568
Clinvar_Rec_14243	rs200367764	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000275430	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs200367764
Clinvar_Rec_14244	rs886056464	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000295657	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs886056464
Clinvar_Rec_14245	rs886062711	Uncertain significance	Charcot-Marie-Tooth disease type 4	RCV000369057	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs886062711
Clinvar_Rec_14246	rs760248675	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001014769;RCV000460894	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs760248675
Clinvar_Rec_14247	rs760248675	Uncertain significance	Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome	RCV000551065;RCV001014771	MedGen;Orphanet;Orphanet;SNOMED CT	C1708353;ORPHA29072;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs760248675
Clinvar_Rec_14248	rs397514903	not provided	Tuberous sclerosis syndrome	RCV000055077	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397514903
Clinvar_Rec_14249	rs397515039	not provided	Tuberous sclerosis syndrome	RCV000055264	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515039
Clinvar_Rec_14250	rs375574283	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV000565481;RCV000472885	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375574283
Clinvar_Rec_14251	rs375574283	Uncertain significance	Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2	RCV001026291;RCV000542183	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613254	criteria provided, multiple submitters, no conflicts	tagSNP	rs375574283
Clinvar_Rec_14252	rs767495365	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000573012;RCV000644391;RCV000604172	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs767495365
Clinvar_Rec_14253	rs771595886	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000717033;RCV000464625	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771595886
Clinvar_Rec_14254	rs771595886	Likely benign	Tuberous sclerosis 2	RCV000530598	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs771595886
Clinvar_Rec_14255	rs752906697	Uncertain significance	Pulmonary Surfactant Metabolism Dysfunction, Recessive	RCV000361963	MedGen	CN239432	criteria provided, single submitter	tagSNP	rs752906697
Clinvar_Rec_14256	rs567329568	Pathogenic	ALG1-CDG	RCV000004991	MedGen;OMIM;Orphanet	C2931005;608540;ORPHA79327	no assertion criteria provided	LD derived	rs121908340
Clinvar_Rec_14257	rs201429019	Uncertain significance	Charcot-Marie-Tooth disease, type I	RCV000351882	MedGen;Orphanet;SNOMED CT	C0751036;ORPHA65753;398040009	criteria provided, single submitter	tagSNP	rs201429019
Clinvar_Rec_14258	rs281865134	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, type 1C	RCV000789997;RCV000034128	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001;MedGen;601098;ORPHA101083;4183003	no assertion criteria provided	tagSNP	rs281865134
Clinvar_Rec_14259	rs72557936	Uncertain significance	Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency	RCV000698979	MedGen;OMIM;Orphanet	C2673964;613571;ORPHA95699	criteria provided, single submitter	tagSNP	rs72557936
Clinvar_Rec_14260	rs587781250	Pathogenic	Charcot-Marie-Tooth disease	RCV000144874	MedGen;Orphanet;SNOMED CT	C0007959;ORPHA166;50548001	criteria provided, single submitter	tagSNP	rs587781250
Clinvar_Rec_14261	rs104893877	Pathogenic	Lewy body dementia;Parkinson disease 1;Parkinson disease 1	RCV000526380;RCV000015044;RCV000526380	MedGen;OMIM;OMIM;OMIM	C0752347;127750;MedGen;168601;MedGen;168601	criteria provided, single submitter	tagSNP	rs104893877
Clinvar_Rec_14262	rs886055996	Uncertain significance	Irido-corneo-trabecular dysgenesis;Primary congenital glaucoma	RCV000292017;RCV000349210	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	HP;C4310809;604229;ORPHA708;204153003;Human Phenotype Ontology;C1533041	criteria provided, single submitter	tagSNP	rs886055996
Clinvar_Rec_14263	rs771913043	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000566301	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs771913043
Clinvar_Rec_14264	rs1281308977	Uncertain significance	Isolated unilateral hemispheric cerebellar hypoplasia;Periventricular nodular heterotopia	RCV000779631;RCV000779631	MedGen;Orphanet;MedGen;Orphanet	C4707885;ORPHA269218;MeSH;C1868720;ORPHA98892	no assertion criteria provided	tagSNP	rs1281308977
Clinvar_Rec_14265	rs370257361	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000359620;RCV000403351;RCV000270455;RCV000305802;RCV000360575;RCV000834556;RCV000179097	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs151098305
Clinvar_Rec_14266	rs370257361	Likely benign	Connective tissue disease;not specified	RCV000680468;RCV000600942	MedGen	C0009782;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146093235
Clinvar_Rec_14267	rs370257361	Benign/Likely benign	Fibrochondrogenesis 1;Nonsyndromic Hearing Loss, Dominant;Otospondylomegaepiphyseal dysplasia, autosomal dominant;Otospondylomegaepiphyseal dysplasia, autosomal recessive;Stickler Syndrome, Dominant;not provided;not specified	RCV000363775;RCV000328983;RCV000269088;RCV000303942;RCV000383522;RCV000834554;RCV000178510	MedGen;OMIM;OMIM;Orphanet;OMIM	C3278138;228520;MedGen;184840;ORPHA166100;MedGen;215150;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs146093235
Clinvar_Rec_14268	rs267607021	Pathogenic	Diamond-Blackfan anemia 9	RCV000006562	MedGen;OMIM	C2750081;613308	no assertion criteria provided	tagSNP	rs267607021
Clinvar_Rec_14269	rs1287242303	Uncertain significance	Fanconi anemia, complementation group E	RCV000556008	MedGen;OMIM	C3160739;600901	criteria provided, single submitter	tagSNP	rs1287242303
Clinvar_Rec_14270	rs138907488	Likely benign	Combined molybdoflavoprotein enzyme deficiency	RCV000326910	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0268119;ORPHA99732;29692004	criteria provided, single submitter	tagSNP	rs138907488
Clinvar_Rec_14271	rs187997427	Uncertain significance	Treacher Collins Syndrome, Recessive	RCV000392292	MedGen	CN239289	criteria provided, single submitter	tagSNP	rs187997427
Clinvar_Rec_14272	rs551140658	Uncertain significance	Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive	RCV000361712;RCV000267066	MedGen	CN239263;MedGen	criteria provided, single submitter	LD derived	rs539768252
Clinvar_Rec_14273	rs28937892	Pathogenic	Diabetes mellitus AND insipidus with optic atrophy AND deafness	RCV000004770	MedGen;OMIM;Orphanet;SNOMED CT	C4551693;222300;ORPHA3463;70694009	no assertion criteria provided	tagSNP	rs28937892
Clinvar_Rec_14274	rs764552042	Pathogenic	Sandhoff disease	RCV000502357	MedGen;OMIM;Orphanet;SNOMED CT	C0036161;268800;ORPHA796;23849003	criteria provided, multiple submitters, no conflicts	tagSNP	rs764552042
Clinvar_Rec_14275	rs397507554	Pathogenic	Diamond-Blackfan anemia 8	RCV000006525	MedGen;OMIM	C2675511;612563	no assertion criteria provided	tagSNP	rs397507554
Clinvar_Rec_14276	rs779416496	Uncertain significance	Bardet-Biedl syndrome	RCV000290691	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs779416496
Clinvar_Rec_14277	rs144313303	Uncertain significance	Bardet-Biedl syndrome	RCV000376996	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004	criteria provided, single submitter	tagSNP	rs144313303
Clinvar_Rec_14278	rs150178083	Uncertain significance	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	RCV000697328	MedGen;OMIM;Orphanet	C3151062;613759;ORPHA306550	criteria provided, single submitter	tagSNP	rs150178083
Clinvar_Rec_14279	rs61733248	Conflicting interpretations of pathogenicity	Osteogenesis Imperfecta, Recessive;not provided;not specified	RCV000388996;RCV000757756;RCV000178158	MedGen	CN239451;MedGen	criteria provided, conflicting interpretations	tagSNP	rs61733248
Clinvar_Rec_14280	rs180685772	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000313815	MedGen	CN239451	criteria provided, single submitter	tagSNP	rs180685772
Clinvar_Rec_14281	rs121918103	Pathogenic/Likely pathogenic	Inborn genetic diseases;Sphingolipid activator protein 1 deficiency;not provided	RCV000624006;RCV000014289;RCV000732106	MeSH;MedGen;OMIM;SNOMED CT	D030342;C0950123;MedGen;249900;68390005;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs121918103
Clinvar_Rec_14282	rs142272618	Benign/Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not provided	RCV000285482;RCV000345152;RCV000379808;RCV000320602;RCV000974717	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs142272618
Clinvar_Rec_14283	rs142272618	Benign/Likely benign	Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;not provided	RCV000308371;RCV000330576;RCV000277898;RCV000370087;RCV000974716	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	CN239218;MedGen;611721;ORPHA139406;MedGen;245200;ORPHA487;192782005;MedGen;250100;ORPHA512;396338004;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs114389264
Clinvar_Rec_14284	rs886047201	Uncertain significance	Combined oxidative phosphorylation deficiency	RCV000265428	MedGen;Orphanet	CN228601;ORPHA2443	criteria provided, single submitter	tagSNP	rs886047201
Clinvar_Rec_14285	rs1421034616	Uncertain significance	Dilated cardiomyopathy 1W	RCV000645326	MedGen;OMIM	C1969639;611407	criteria provided, single submitter	tagSNP	rs1421034616
Clinvar_Rec_14286	rs104894513	Pathogenic	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	RCV000002346	MedGen;OMIM	C1856255;233690	no assertion criteria provided	tagSNP	rs104894513
Clinvar_Rec_14287	rs761848111	Pathogenic	KBG syndrome;not provided	RCV000578369;RCV000266509	MedGen;OMIM;Orphanet	C0220687;148050;ORPHA2332;MedGen	criteria provided, single submitter	tagSNP	rs761848111
Clinvar_Rec_14288	rs149474131	Pathogenic	Inborn genetic diseases	RCV000624073	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs149474131
Clinvar_Rec_14289	rs759899153	Pathogenic	Fanconi anemia	RCV000529668	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs759899153
Clinvar_Rec_14290	rs200603300	Uncertain significance	Fanconi anemia;not specified	RCV000465739;RCV000120959	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, single submitter	tagSNP	rs200603300
Clinvar_Rec_14291	rs181269865	Benign/Likely benign	Malignant Melanoma Susceptibility;not provided	RCV000348272;RCV000465980	MedGen	C3836884;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs181269865
Clinvar_Rec_14292	rs587783376	Uncertain significance	Cutaneous malignant melanoma 5;not provided	RCV000707635;RCV000148031	MedGen;OMIM	C2751295;613099;MedGen	criteria provided, single submitter	tagSNP	rs587783376
Clinvar_Rec_14293	rs1805009	Conflicting interpretations of pathogenicity	Malignant Melanoma Susceptibility;Skin and Hair Hypopigmentation;Skin/hair/eye pigmentation 2, red hair/fair skin;Tyrosinase-positive oculocutaneous albinism;not provided;not specified	RCV000299359;RCV000851264;RCV000015377;RCV000662303;RCV000347221;RCV000243405	MedGen;OMIM;Orphanet;SNOMED CT	C3836884;na;MedGen;203200;ORPHA79432;26336006;MedGen	criteria provided, conflicting interpretations	tagSNP	rs1805009
Clinvar_Rec_14294	rs11596235	Likely benign	Medulloblastoma	RCV000300391	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet	HP;D008527;C0025149;155255;ORPHA616	criteria provided, single submitter	tagSNP	rs11596235
Clinvar_Rec_14295	rs104894669	Affects	BLOOD GROUP--OK	RCV000019327	MedGen;OMIM	C1862209;111380	no assertion criteria provided	tagSNP	rs104894669
Clinvar_Rec_14296	rs375120743	Conflicting interpretations of pathogenicity	Leigh syndrome;Mitochondrial complex I deficiency;not provided	RCV000405173;RCV000307576;RCV000891844	MedGen;OMIM;Orphanet;SNOMED CT	C0023264;256000;ORPHA506;29570005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs375120743
Clinvar_Rec_14297	rs767615829	Uncertain significance	Epilepsy, progressive myoclonic, 9;Lipodystrophy, partial, acquired, susceptibility to	RCV000652853;RCV000652853	MedGen;OMIM;Orphanet	C4225289;616540;ORPHA457265;MedGen	criteria provided, single submitter	tagSNP	rs767615829
Clinvar_Rec_14298	rs561400866	Benign	Rasopathy	RCV000520281	MedGen;Orphanet	CN166718;ORPHA536391	reviewed by expert panel	tagSNP	rs561400866
Clinvar_Rec_14299	rs587777428	Pathogenic	Autosomal dominant torsion dystonia 4;Leukodystrophy, hypomyelinating, 6;Leukodystrophy, hypomyelinating, 6	RCV000763442;RCV000122736;RCV000763442	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1851943;128101;ORPHA98805;MedGen;612438;ORPHA139441;MedGen;612438;ORPHA139441	criteria provided, multiple submitters, no conflicts	tagSNP	rs587777428
Clinvar_Rec_14300	rs368303189	Pathogenic	Severe combined immunodeficiency due to CD70 deficiency	RCV000735975	MedGen;OMIM;Orphanet	C4748863;618261;ORPHA538958	no assertion criteria provided	tagSNP	rs368303189
Clinvar_Rec_14301	rs778467461	Uncertain significance	Dementia, Deafness, and Sensory Neuropathy	RCV000383667	MedGen	CN239189	criteria provided, single submitter	tagSNP	rs778467461
Clinvar_Rec_14302	rs778467461	Uncertain significance	Dementia, Deafness, and Sensory Neuropathy	RCV000291447	MedGen	CN239189	criteria provided, single submitter	tagSNP	rs778467461
Clinvar_Rec_14303	rs1257025095	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000649355	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs1257025095
Clinvar_Rec_14304	rs759600542	Uncertain significance	Hereditary sensory neuropathy type IE	RCV000649362	MedGen;OMIM;Orphanet	C3279885;614116;ORPHA456318	criteria provided, single submitter	tagSNP	rs759600542
Clinvar_Rec_14305	rs1366085446	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000559076	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1366085446
Clinvar_Rec_14306	rs797045988	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;not specified	RCV001026954;RCV000701796;RCV000192928	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797045988
Clinvar_Rec_14307	rs2288845	Benign/Likely benign	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000319221;RCV000562293;RCV000231507;RCV000609507	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2288845
Clinvar_Rec_14308	rs1555762139	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000562042;RCV000882091	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555762139
Clinvar_Rec_14309	rs1429065030	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000563006;RCV000527624	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs1429065030
Clinvar_Rec_14310	rs1555763816	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574552	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555763816
Clinvar_Rec_14311	rs765850087	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000689111	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs765850087
Clinvar_Rec_14312	rs765850087	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000687814	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs765850087
Clinvar_Rec_14313	rs1555763943	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000548283	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555763943
Clinvar_Rec_14314	rs1555768770	Likely benign	Hereditary cancer-predisposing syndrome	RCV000574490	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555768770
Clinvar_Rec_14315	rs149562732	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000561195;RCV000461149	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs149562732
Clinvar_Rec_14316	rs1555785006	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000562464	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555785006
Clinvar_Rec_14317	rs552535004	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000575332;RCV000646936	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs552535004
Clinvar_Rec_14318	rs552535004	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000570659;RCV000228993	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs552535004
Clinvar_Rec_14319	rs370484739	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV001022598;RCV000646873	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs370484739
Clinvar_Rec_14320	rs1060502099	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000469184	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1060502099
Clinvar_Rec_14321	rs745740277	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000574226;RCV000560601	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs745740277
Clinvar_Rec_14322	rs1555797441	Likely benign	Rhabdoid tumor predisposition syndrome 2	RCV000544587	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs1555797441
Clinvar_Rec_14323	rs867536416	Uncertain significance	Rhabdoid tumor predisposition syndrome 2	RCV000685039	MedGen;OMIM	C2750074;613325	criteria provided, single submitter	tagSNP	rs867536416
Clinvar_Rec_14324	rs867536416	Uncertain significance	Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2	RCV000564281;RCV000227203	MedGen;Orphanet;SNOMED CT;OMIM	C0027672;ORPHA140162;699346009;MedGen;613325	criteria provided, multiple submitters, no conflicts	tagSNP	rs867536416
Clinvar_Rec_14325	rs879254615	Pathogenic	Familial hypercholesterolemia 1	RCV000237273	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs879254615
Clinvar_Rec_14326	rs879254744	Pathogenic	Familial hypercholesterolemia 1	RCV000238155	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879254744
Clinvar_Rec_14327	rs199622547	Likely benign	Familial hypercholesterolemia 1	RCV000237772	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs199622547
Clinvar_Rec_14328	rs879255113	Pathogenic	Familial hypercholesterolemia 1	RCV000237731	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs879255113
Clinvar_Rec_14329	rs201637900	Pathogenic/Likely pathogenic	Familial hypercholesterolemia 1	RCV000238581	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, multiple submitters, no conflicts	tagSNP	rs201637900
Clinvar_Rec_14330	rs201637900	Likely pathogenic	Familial hypercholesterolemia 1	RCV000237573	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs201637900
Clinvar_Rec_14331	rs886054189	Uncertain significance	Familial hypercholesterolemia 1	RCV000389052	MedGen;OMIM;SNOMED CT	C0745103;143890;397915002	criteria provided, single submitter	tagSNP	rs886054189
Clinvar_Rec_14332	rs76634951	Benign/Likely benign	Aicardi Goutieres syndrome;Aicardi Goutieres syndrome 4;not provided;not specified	RCV000380537;RCV000556823;RCV000992756;RCV000454882	MedGen;Orphanet;SNOMED CT;OMIM	C0393591;ORPHA51;230312006;MedGen;610333;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs76634951
Clinvar_Rec_14333	rs797045737	Pathogenic	Marshall-Smith syndrome	RCV000192696	MedGen;OMIM;Orphanet;SNOMED CT	C0265211;602535;ORPHA561;73284007	criteria provided, single submitter	tagSNP	rs797045737
Clinvar_Rec_14334	rs1569164733	Pathogenic	Joubert syndrome;Primary ciliary dyskinesia	RCV000758013;RCV000758013	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;SNOMED CT;MedGen;Orphanet	HP;C0431399;ORPHA475;253175003;716997004;Human Phenotype Ontology;C0008780;ORPHA244	no assertion criteria provided	tagSNP	rs1569164733
Clinvar_Rec_14335	rs200344130	Benign	Fanconi Anemia, X-Linked;Hypothyroidism, central, and testicular enlargement;VACTERL association with hydrocephalus	RCV000364217;RCV000851550;RCV000268796	MedGen;OMIM;Orphanet;OMIM;Orphanet	CN239166;MedGen;300888;ORPHA329235;MedGen;276950;ORPHA3412	criteria provided, single submitter	LD derived	rs2188383
Clinvar_Rec_14336	rs886058164	Uncertain significance	Cerebral cavernous malformation	RCV000297970	MedGen;OMIM	C2919945;116860	criteria provided, single submitter	tagSNP	rs886058164
Clinvar_Rec_14337	rs1554081112	Pathogenic	Treacher Collins syndrome 1;not provided	RCV000654879;RCV000522626	MedGen;OMIM	CN119605;154500;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554081112
Clinvar_Rec_14338	rs116268092	Benign/Likely benign	Treacher Collins Syndrome, Dominant;not provided	RCV000344751;RCV000870659	MedGen	CN239287;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs116268092
Clinvar_Rec_14339	rs148602858	Uncertain significance	Epileptic encephalopathy, early infantile, 33	RCV000705789	MedGen;OMIM	C4225337;616409	criteria provided, single submitter	tagSNP	rs148602858
Clinvar_Rec_14340	rs1555883973	Uncertain significance	Epileptic encephalopathy, early infantile, 33	RCV000527752	MedGen;OMIM	C4225337;616409	criteria provided, single submitter	tagSNP	rs1555883973
Clinvar_Rec_14341	rs370343297	Likely benign	Diamond-Blackfan anemia	RCV000541747	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs370343297
Clinvar_Rec_14342	rs1060503688	Likely pathogenic	Diamond-Blackfan anemia	RCV000462953	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1060503688
Clinvar_Rec_14343	rs397514748	Uncertain significance	Variant of unknown significance	RCV000054541	-	-	no assertion criteria provided	tagSNP	rs397514748
Clinvar_Rec_14344	rs757059355	Uncertain significance	Congenital hyperammonemia, type I	RCV000669754	MedGen;OMIM;Orphanet;SNOMED CT	C4082171;237300;ORPHA147;62522004	criteria provided, single submitter	tagSNP	rs757059355
Clinvar_Rec_14345	rs1553553086	Pathogenic	Cerebral calcification;Cirrhosis of liver;Dilatation;Interstitial pneumonitis;Rajab interstitial lung disease with brain calcifications	RCV000656702;RCV000656702;RCV000656702;RCV000656702;RCV000754848	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;OMIM;Orphanet	HP;C0270685;Human Phenotype Ontology;C0023890;Human Phenotype Ontology;C0002940;Human Phenotype Ontology;C0206061;MedGen;613658;ORPHA178506	criteria provided, single submitter	tagSNP	rs1553553086
Clinvar_Rec_14346	rs766734350	Uncertain significance	HNSHA due to aldolase A deficiency	RCV000260709	MedGen;OMIM;Orphanet;SNOMED CT	C0272066;611881;ORPHA57;111578003	criteria provided, single submitter	tagSNP	rs766734350
Clinvar_Rec_14347	rs138416154	Conflicting interpretations of pathogenicity	Glycogen phosphorylase kinase deficiency;not provided;not specified	RCV000330339;RCV000647371;RCV000432243	MedGen;Orphanet;SNOMED CT	C0268147;ORPHA370;235908005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138416154
Clinvar_Rec_14348	rs1057519074	Pathogenic	Immunodeficiency 50	RCV000412603	MedGen;OMIM;Orphanet	C4310812;300988;ORPHA504530	criteria provided, single submitter	tagSNP	rs1057519074
Clinvar_Rec_14349	rs1555949579	Uncertain significance	Inborn genetic diseases	RCV000623934	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555949579
Clinvar_Rec_14350	rs878853048	Conflicting interpretations of pathogenicity	Inborn genetic diseases;not provided	RCV000624825;RCV000224545	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, conflicting interpretations	tagSNP	rs878853048
Clinvar_Rec_14351	rs1555164786	Uncertain significance	Stickler syndrome type 1	RCV000659404	MedGen;OMIM;Orphanet	C2020284;108300;ORPHA90653	criteria provided, single submitter	tagSNP	rs1555164786
Clinvar_Rec_14352	rs886044555	Pathogenic/Likely pathogenic	Inborn genetic diseases;not provided	RCV000622408;RCV000489443	MeSH;MedGen	D030342;C0950123;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886044555
Clinvar_Rec_14353	rs869312907	Pathogenic	Spondyloepiphyseal dysplasia, stanescu type	RCV000210454	MedGen;OMIM;Orphanet	C4225273;616583;ORPHA459051	criteria provided, single submitter	tagSNP	rs869312907
Clinvar_Rec_14354	rs145040928	Conflicting interpretations of pathogenicity	Glycogen storage disease, type VII;not provided	RCV000396042;RCV000756473	MedGen;OMIM;Orphanet;SNOMED CT	C0017926;232800;ORPHA371;89597008;MedGen	criteria provided, conflicting interpretations	LD derived	rs150378513
Clinvar_Rec_14355	rs144914540	Benign/Likely benign	Kabuki syndrome;not provided	RCV000375601;RCV000887378	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs372234918
Clinvar_Rec_14356	rs780776865	Uncertain significance	Kabuki syndrome 1	RCV000768009	MedGen;OMIM	CN030661;147920	criteria provided, single submitter	tagSNP	rs780776865
Clinvar_Rec_14357	rs375115132	Uncertain significance	Kabuki syndrome	RCV000268076	MedGen;Orphanet;SNOMED CT	C0796004;ORPHA2322;313426007	criteria provided, multiple submitters, no conflicts	tagSNP	rs375115132
Clinvar_Rec_14358	rs587784494	Likely pathogenic	Tubulinopathies	RCV000767473	MedGen	CN850169	criteria provided, single submitter	tagSNP	rs587784494
Clinvar_Rec_14359	rs587784494	Pathogenic/Likely pathogenic	Lissencephaly 3;Tubulinopathies	RCV000147818;RCV000767426	MedGen;OMIM;Orphanet	C1969029;611603;ORPHA171680;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587784494
Clinvar_Rec_14360	rs142013283	Conflicting interpretations of pathogenicity	Mental retardation, X-linked, syndromic, Hedera type;Mental retardation, X-linked, syndromic, Hedera type;Parkinsonism with spasticity, X-linked;not specified	RCV000640918;RCV000767901;RCV000767901;RCV000186814	MedGen;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C1845543;300423;ORPHA93952;MedGen;300423;ORPHA93952;MedGen;300911;ORPHA363654;MedGen	criteria provided, conflicting interpretations	tagSNP	rs142013283
Clinvar_Rec_14361	rs1555952710	Pathogenic	Inborn genetic diseases	RCV000624748	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1555952710
Clinvar_Rec_14362	rs1558087712	Pathogenic	PERIVENTRICULAR NODULAR HETEROTOPIA 8	RCV000721171	MedGen;OMIM	C4748602;618185	no assertion criteria provided	tagSNP	rs1558087712
Clinvar_Rec_14363	rs193920851	Uncertain significance	Malignant tumor of prostate	RCV000149206	Human Phenotype Ontology;MedGen;OMIM;SNOMED CT	HP;C0376358;176807;399068003	no assertion criteria provided	tagSNP	rs193920851
Clinvar_Rec_14364	rs886046101	Uncertain significance	Familial erythrocytosis	RCV000325573	MedGen;Orphanet;SNOMED CT	C0152264;ORPHA90042;17342003	criteria provided, single submitter	tagSNP	rs886046101
Clinvar_Rec_14365	rs387907131	Pathogenic	Joubert syndrome 14	RCV000024182	MedGen;OMIM	C3280766;614424	criteria provided, single submitter	tagSNP	rs387907131
Clinvar_Rec_14366	rs1358449243	Pathogenic	Charcot-Marie-Tooth disease type 4	RCV000654085	MedGen;Orphanet;SNOMED CT	C4082197;ORPHA64749;715795005	criteria provided, single submitter	tagSNP	rs1358449243
Clinvar_Rec_14367	rs864309643	Pathogenic	Perrault syndrome 4	RCV000203255	MedGen;OMIM	C3809105;615300	criteria provided, single submitter	tagSNP	rs864309643
Clinvar_Rec_14368	rs148374607	Uncertain significance	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	RCV000688380	MedGen;OMIM;Orphanet	C4014239;615760;ORPHA404437	criteria provided, single submitter	tagSNP	rs148374607
Clinvar_Rec_14369	rs74951356	Benign/Likely benign	Nephrotic syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;Pierson syndrome;not specified	RCV000313486;RCV000545161;RCV000404994;RCV000545161;RCV000253175	Human Phenotype Ontology;MedGen;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	HP;C0027726;52254009;MedGen;614199;ORPHA306507;MedGen;609049;ORPHA2670;MedGen;609049;ORPHA2670;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs74951356
Clinvar_Rec_14370	rs756535650	Conflicting interpretations of pathogenicity	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;not specified	RCV000794720;RCV000794720;RCV000245548	MedGen;OMIM;Orphanet;OMIM;Orphanet	C3280113;614199;ORPHA306507;MedGen;609049;ORPHA2670;MedGen	criteria provided, conflicting interpretations	tagSNP	rs756535650
Clinvar_Rec_14371	rs751219874	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000582145;RCV000863899	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751219874
Clinvar_Rec_14372	rs755915077	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000567366;RCV000816277	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs755915077
Clinvar_Rec_14373	rs746271680	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000697573	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	tagSNP	rs746271680
Clinvar_Rec_14374	rs756450018	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000583753;RCV000649826	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs756450018
Clinvar_Rec_14375	rs1437342810	Uncertain significance	Tumor susceptibility linked to germline BAP1 mutations	RCV000707041	MedGen;OMIM;Orphanet	C3280492;614327;ORPHA289539	criteria provided, single submitter	tagSNP	rs1437342810
Clinvar_Rec_14376	rs201203425	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations;not provided	RCV000562778;RCV000649831;RCV000733232	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201203425
Clinvar_Rec_14377	rs201203425	Uncertain significance	Dilated cardiomyopathy 1Z;Familial hypertrophic cardiomyopathy 13	RCV000543073;RCV000543073	MedGen;OMIM;OMIM	C2678475;611879;MedGen;613243	criteria provided, single submitter	LD derived	rs147821122
Clinvar_Rec_14378	rs756443059	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000569231;RCV000699365	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs756443059
Clinvar_Rec_14379	rs748928044	Uncertain significance	Hereditary cancer-predisposing syndrome;Tumor susceptibility linked to germline BAP1 mutations	RCV000574559;RCV000475121	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;614327;ORPHA289539	criteria provided, multiple submitters, no conflicts	tagSNP	rs748928044
Clinvar_Rec_14380	rs886058780	Uncertain significance	Pyruvate dehydrogenase complex deficiency	RCV000366234	MedGen;Orphanet;SNOMED CT	C0034345;ORPHA765;46683007	criteria provided, single submitter	tagSNP	rs886058780
Clinvar_Rec_14381	rs549257131	Conflicting interpretations of pathogenicity	Dilated Cardiomyopathy, Dominant;not provided	RCV000389683;RCV000953852	MedGen	CN239310;MedGen	criteria provided, conflicting interpretations	tagSNP	rs549257131
Clinvar_Rec_14382	rs41265857	Likely benign	Charcot-Marie-Tooth, Intermediate	RCV000403104	MedGen	CN239334	criteria provided, single submitter	tagSNP	rs41265857
Clinvar_Rec_14383	rs863224717	Uncertain significance	Charcot-Marie-Tooth disease, dominant intermediate C	RCV000195932	MedGen;OMIM;Orphanet	C1842237;608323;ORPHA100045	criteria provided, single submitter	tagSNP	rs863224717
Clinvar_Rec_14384	rs121908833	Conflicting interpretations of pathogenicity	Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease, dominant intermediate C	RCV000789620;RCV000006565	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0007959;ORPHA166;50548001;MedGen;608323;ORPHA100045	no assertion criteria provided	tagSNP	rs121908833
Clinvar_Rec_14385	rs747563189	Uncertain significance	Lethal tight skin contracture syndrome;Mandibuloacral dysplasia;not provided	RCV000329774;RCV000293484;RCV000597416	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0406585;275210;ORPHA1662;400128006;MedGen;ORPHA2457;109419009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs747563189
Clinvar_Rec_14386	rs746188198	Uncertain significance	Immunodeficiency 24	RCV000652308	MedGen;OMIM;Orphanet	C4014617;615897;ORPHA420573	criteria provided, single submitter	tagSNP	rs746188198
Clinvar_Rec_14387	rs387907313	Pathogenic	Epilepsy, idiopathic generalized, susceptibility to, 12;GLUT1 deficiency syndrome 1, autosomal recessive;not provided	RCV000030841;RCV001063268;RCV000189356	MedGen;OMIM	C3553859;614847;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs387907313
Clinvar_Rec_14388	rs1553314023	Likely pathogenic	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	RCV000673029	MedGen;OMIM;Orphanet	C3711645;609016;ORPHA5	criteria provided, single submitter	tagSNP	rs1553314023
Clinvar_Rec_14389	rs1553314024	Likely pathogenic	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	RCV000665108	MedGen;OMIM;Orphanet	C3711645;609016;ORPHA5	criteria provided, single submitter	tagSNP	rs1553314024
Clinvar_Rec_14390	rs886055901	Uncertain significance	Leukoencephalopathy with vanishing white matter	RCV000386106	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	criteria provided, single submitter	tagSNP	rs886055901
Clinvar_Rec_14391	rs374981255	Likely benign	Dilated cardiomyopathy 1II;not specified	RCV000559436;RCV000609496	MedGen;OMIM	C3554649;615184;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs374981255
Clinvar_Rec_14392	rs1131691064	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000492559	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1131691064
Clinvar_Rec_14393	rs1566702512	Uncertain significance	Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas 1;Pheochromocytoma	RCV000686549;RCV000686549;RCV000686549;RCV000686549	MedGen;OMIM;Orphanet;OMIM;MedGen;OMIM	C1847319;606864;ORPHA97286;MedGen;168000;Human Phenotype Ontology;C0031511;171300	criteria provided, single submitter	tagSNP	rs1566702512
Clinvar_Rec_14394	rs1057519618	Uncertain significance	Wiedemann-Steiner syndrome	RCV000436735	MedGen;OMIM;Orphanet	C1854630;605130;ORPHA319182	no assertion criteria provided	tagSNP	rs1057519618
Clinvar_Rec_14395	rs193302888	Likely pathogenic	Glucose-6-phosphate transport defect;not provided	RCV000169286;RCV000059136	MedGen;OMIM;Orphanet;SNOMED CT	C0268146;232220;ORPHA79259;30102006;MedGen	criteria provided, single submitter	tagSNP	rs193302888
Clinvar_Rec_14396	rs1565757839	Pathogenic	Acute intermittent porphyria	RCV000001533	MedGen;OMIM;Orphanet;SNOMED CT	C0162565;176000;ORPHA79276;234422006	no assertion criteria provided	tagSNP	rs1565757839
Clinvar_Rec_14397	rs762962010	Uncertain significance	Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;Rhabdoid tumor;Schwannomatosis;not provided	RCV000407877;RCV001024873;RCV000337956;RCV000299341;RCV000559614	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT;Orphanet;Orphanet;SNOMED CT	C0265338;ORPHA1465;10007009;MedGen;ORPHA140162;699346009;MedGen;ORPHA69077;MedGen;ORPHA93921;142071000119101;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs762962010
Clinvar_Rec_14398	rs1568963037	Uncertain significance	Mental retardation, autosomal dominant 15	RCV000680105	MedGen;OMIM	C3553248;614608	criteria provided, single submitter	tagSNP	rs1568963037
Clinvar_Rec_14399	rs1555936530	Uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2z	RCV000534380	MedGen;OMIM;Orphanet	C4225243;616688;ORPHA466768	criteria provided, single submitter	tagSNP	rs1555936530
Clinvar_Rec_14400	rs137853302	Pathogenic	Sorsby fundus dystrophy	RCV000013517	MedGen;OMIM;Orphanet	C1850938;136900;ORPHA59181	no assertion criteria provided	tagSNP	rs137853302
Clinvar_Rec_14401	rs527539496	Likely benign	MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant	RCV000290371;RCV000347692	MedGen;Orphanet	C1854520;ORPHA807;MedGen	criteria provided, single submitter	tagSNP	rs527539496
Clinvar_Rec_14402	rs548454245	Uncertain significance	Iron accumulation in brain	RCV000147292	Human Phenotype Ontology;MedGen	HP;C4021076	criteria provided, single submitter	LD derived	rs200032947
Clinvar_Rec_14403	rs556239294	Uncertain significance	Waardenburg syndrome type 4C;not specified	RCV000660274;RCV000214833	MedGen;OMIM	C2750452;613266;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs200683397
Clinvar_Rec_14404	rs386834222	not provided	Hepatitis c virus, susceptibility to	RCV000049581	MedGen;OMIM	C1835407;609532	no assertion provided	tagSNP	rs386834222
Clinvar_Rec_14405	rs483353020	Uncertain significance	Relapsing remitting multiple sclerosis	RCV000122439	MedGen;SNOMED CT	C0751967;426373005	no assertion criteria provided	tagSNP	rs483353020
Clinvar_Rec_14406	rs148622862	Pathogenic	Diamond-Blackfan anemia 10	RCV000006500	MedGen;OMIM	C2750080;613309	no assertion criteria provided	tagSNP	rs148622862
Clinvar_Rec_14407	rs11575248	Benign	Immunodeficiency 44;not specified	RCV000559305;RCV000455792	MedGen;OMIM;Orphanet	C4225260;616636;ORPHA431166;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs2066807
Clinvar_Rec_14408	rs1555201026	Uncertain significance	Hereditary cutaneous melanoma;not provided	RCV000812377;RCV000586106	MedGen	C1512419;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555201026
Clinvar_Rec_14409	rs201617914	Conflicting interpretations of pathogenicity	Cutaneous malignant melanoma 3;Ewing's sarcoma;Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;not provided	RCV000409921;RCV000760999;RCV000115328;RCV000195817;RCV000587659	MedGen;OMIM;MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1836892;609048;Human Phenotype Ontology;C0553580;612219;ORPHA319;76909002;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201617914
Clinvar_Rec_14410	rs1555201101	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000575901	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555201101
Clinvar_Rec_14411	rs771607042	Uncertain significance	Hereditary cancer-predisposing syndrome;not provided	RCV000217430;RCV000679201	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771607042
Clinvar_Rec_14412	rs121909485	Pathogenic	Combined oxidative phosphorylation deficiency 3;not provided	RCV000005710;RCV001044965	MedGen;OMIM;Orphanet	C1864840;610505;ORPHA168566;MedGen	criteria provided, single submitter	tagSNP	rs121909485
Clinvar_Rec_14413	rs587777688	Likely pathogenic	Combined oxidative phosphorylation deficiency 3;not provided	RCV000143784;RCV000488150	MedGen;OMIM;Orphanet	C1864840;610505;ORPHA168566;MedGen	criteria provided, single submitter	tagSNP	rs587777688
Clinvar_Rec_14414	rs563691424	Uncertain significance	Hereditary sensory and autonomic neuropathy type II;Pseudohypoaldosteronism type 2A	RCV000301145;RCV000355967	MedGen;Orphanet;OMIM;Orphanet;SNOMED CT	C0020072;ORPHA970;MedGen;145260;ORPHA88938;703254001	criteria provided, single submitter	tagSNP	rs563691424
Clinvar_Rec_14415	rs577007302	Benign/Likely benign	Brugada syndrome;Timothy syndrome;not provided;not specified	RCV000390000;RCV000345641;RCV000552154;RCV000436421	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C1142166;ORPHA130;418818005;MedGen;601005;ORPHA65283;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs561224137
Clinvar_Rec_14416	rs370863694	Uncertain significance	Triosephosphate isomerase deficiency	RCV000383817	MedGen;OMIM;Orphanet	C1860808;615512;ORPHA868	criteria provided, single submitter	tagSNP	rs370863694
Clinvar_Rec_14417	rs563441821	Uncertain significance	Nonsyndromic Hearing Loss, Recessive	RCV000342294	MedGen	CN239439	criteria provided, single submitter	LD derived	rs571616553
Clinvar_Rec_14418	rs1555685022	Likely benign	Hereditary cancer-predisposing syndrome	RCV000572660	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555685022
Clinvar_Rec_14419	rs1057523437	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV001011646;RCV000932770;RCV000437825	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1057523437
Clinvar_Rec_14420	rs1555685965	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000583802	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1555685965
Clinvar_Rec_14421	rs1563674316	Pathogenic	CHARGE association	RCV000701495	MedGen;OMIM;Orphanet;SNOMED CT	C0265354;214800;ORPHA138;47535005	criteria provided, single submitter	tagSNP	rs1563674316
Clinvar_Rec_14422	rs267606710	Pathogenic	Focal segmental glomerulosclerosis 3	RCV000006058	MedGen	C4016880	no assertion criteria provided	tagSNP	rs267606710
Clinvar_Rec_14423	rs201702015	Uncertain significance	Epilepsy, juvenile absence, susceptibility to, 1;Juvenile myoclonic epilepsy	RCV000526219;RCV000526219	MedGen;OMIM;OMIM;Orphanet	C2750892;607631;MedGen;254770;ORPHA307	criteria provided, single submitter	LD derived	rs191404037
Clinvar_Rec_14424	rs863225051	Pathogenic	Leukoencephalopathy with vanishing white matter	RCV000201218	MedGen;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C1858991;603896;ORPHA157713;ORPHA157716;ORPHA157719;ORPHA99854	no assertion criteria provided	tagSNP	rs863225051
Clinvar_Rec_14425	rs141707607	Uncertain significance	Lactate dehydrogenase B deficiency	RCV000389088	MedGen;OMIM	C1835592;614128	criteria provided, single submitter	tagSNP	rs141707607
Clinvar_Rec_14426	rs141773135	Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000570340;RCV000463149;RCV000781214	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138493551
Clinvar_Rec_14427	rs141773135	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV000163159;RCV000195641	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs138493551
Clinvar_Rec_14428	rs150625194	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000357566	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs150625194
Clinvar_Rec_14429	rs367806417	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000706527	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs367806417
Clinvar_Rec_14430	rs557600847	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000557786	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs557600847
Clinvar_Rec_14431	rs557600847	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000559648	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	LD derived	rs527414180
Clinvar_Rec_14432	rs148075561	Benign/Likely benign	Charcot-Marie-Tooth disease, type 2;not provided;not specified	RCV000466442;RCV000858542;RCV000418675	MedGen;Orphanet	C0270914;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs148075561
Clinvar_Rec_14433	rs1337985053	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000685935	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1337985053
Clinvar_Rec_14434	rs1337985053	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000704455	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs1337985053
Clinvar_Rec_14435	rs191594899	Uncertain significance	Primary ciliary dyskinesia 23	RCV000530907	MedGen;OMIM	C3809548;615451	criteria provided, single submitter	tagSNP	rs191594899
Clinvar_Rec_14436	rs1553209373	Pathogenic	Proteasome-associated autoinflammatory syndrome 1	RCV000663378	MedGen;OMIM;Orphanet	C4746851;256040;ORPHA2615	no assertion criteria provided	tagSNP	rs1553209373
Clinvar_Rec_14437	rs876661407	Pathogenic	Nemaline myopathy 1	RCV000223955	MedGen;OMIM	C1836448;609284	no assertion criteria provided	tagSNP	rs876661407
Clinvar_Rec_14438	rs121908301	Pathogenic	Gaucher's disease, type 1	RCV000004552	MedGen;OMIM;Orphanet;SNOMED CT	C1961835;230800;ORPHA77259;62201009	no assertion criteria provided	tagSNP	rs121908301
Clinvar_Rec_14439	rs876657491	Likely benign	Cardiomyopathy;not provided;not specified	RCV000771953;RCV000904865;RCV000213438	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs876657491
Clinvar_Rec_14440	rs869025458	Likely pathogenic	Cardiac conduction defect, nonspecific	RCV000208251	EFO;MedGen	EFO_0005137;C2748542	criteria provided, single submitter	tagSNP	rs869025458
Clinvar_Rec_14441	rs397517909	Likely pathogenic	Primary dilated cardiomyopathy	RCV000041366	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs397517909
Clinvar_Rec_14442	rs397517915	Pathogenic	Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	RCV001069384;RCV000041381;RCV000236709	MedGen;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	C0270914;ORPHA64746;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs397517915
Clinvar_Rec_14443	rs267607554	Pathogenic	Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;Primary dilated cardiomyopathy;not provided	RCV000619789;RCV000686618;RCV000041382;RCV000057493	MedGen;Orphanet;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	CN230736;MedGen;ORPHA64746;EFO;HP;C0007193;ORPHA217604;195021004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267607554
Clinvar_Rec_14444	rs267607623	Pathogenic	Autosomal dominant distal hereditary motor neuropathy;Cardiovascular phenotype;Charcot-Marie-Tooth disease, type 2;not provided	RCV000790003;RCV000247014;RCV000229718;RCV000182362	MedGen;Orphanet;Orphanet	CN263134;ORPHA140465;MedGen;ORPHA64746;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs267607623
Clinvar_Rec_14445	rs60458016	Pathogenic	Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Muscular dystrophy;not provided	RCV000470514;RCV000015623;RCV000015622;RCV000502108;RCV000057227	MedGen;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet	C0270914;ORPHA64746;MedGen;613205;ORPHA157973;MedGen;181350;ORPHA98853;240072005;Human Phenotype Ontology;D009136;C0026850;ORPHA98473;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs60458016
Clinvar_Rec_14446	rs200466188	Uncertain significance	Charcot-Marie-Tooth disease type 2B1;Charcot-Marie-Tooth disease, type 2;Congenital muscular dystrophy, LMNA-related;Dilated cardiomyopathy 1A;Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Familial partial lipodystrophy 2;Heart-hand syndrome, Slovenian type;Hutchinson-Gilford syndrome;Lethal tight skin contracture syndrome;Limb-girdle muscular dystrophy, type 1B;Mandibuloacral dysplasia with type A lipodystrophy;not provided	RCV000681642;RCV000653862;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000681642;RCV000235878	MedGen;OMIM;Orphanet;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C1854154;605588;ORPHA98856;MedGen;ORPHA64746;MedGen;613205;ORPHA157973;MedGen;115200;ORPHA300751;MedGen;212112;ORPHA2229;MedGen;181350;ORPHA98853;240072005;MedGen;616516;ORPHA98855;MedGen;151660;ORPHA2348;MedGen;610140;ORPHA168796;MedGen;176670;ORPHA740;238870004;MedGen;275210;ORPHA1662;400128006;MedGen;159001;ORPHA264;MedGen;248370;ORPHA90153;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200466188
Clinvar_Rec_14447	rs57730570	Pathogenic	Charcot-Marie-Tooth disease, type 2;Familial dilated cardiomyopathy	RCV001070590;RCV000624376	MedGen;Orphanet;Orphanet	C0270914;ORPHA64746;MedGen;ORPHA217607	criteria provided, multiple submitters, no conflicts	tagSNP	rs57730570
Clinvar_Rec_14448	rs57730570	Likely pathogenic	Familial dilated cardiomyopathy;not provided	RCV000624578;RCV000057312	MedGen;Orphanet	C0340427;ORPHA217607;MedGen	criteria provided, single submitter	tagSNP	rs57730570
Clinvar_Rec_14449	rs370219874	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided;not specified	RCV000619881;RCV000726458;RCV000041326	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370219874
Clinvar_Rec_14450	rs373671419	Conflicting interpretations of pathogenicity	Arrhythmogenic right ventricular cardiomyopathy;Charcot-Marie-Tooth disease, type 2;not provided;not specified	RCV000622473;RCV000541582;RCV000334194;RCV000825772	MedGen;Orphanet;SNOMED CT;SNOMED CT;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;ORPHA64746;MedGen	criteria provided, conflicting interpretations	tagSNP	rs373671419
Clinvar_Rec_14451	rs748768783	Likely benign	Cardiomyopathy	RCV000773609	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs748768783
Clinvar_Rec_14452	rs16831619	Likely benign	Peroxisome biogenesis disorder 1A (Zellweger)	RCV000349142	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912	criteria provided, single submitter	LD derived	rs56089807
Clinvar_Rec_14453	rs16831619	Benign/Likely benign	Peroxisome biogenesis disorder 1A (Zellweger);not provided;not specified	RCV000399906;RCV000436452;RCV000250864	MedGen;OMIM;Orphanet	C4721541;214100;ORPHA912;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs74125561
Clinvar_Rec_14454	rs1085307081	Pathogenic	Familial acne inversa 1	RCV000490379	MedGen;OMIM	C4551962;142690	criteria provided, single submitter	tagSNP	rs1085307081
Clinvar_Rec_14455	rs771746264	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 3;Pheochromocytoma;not provided	RCV000465397;RCV000163869;RCV000465397;RCV000367287;RCV000986017	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;MedGen;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;605373;Human Phenotype Ontology;C0031511;171300;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs771746264
Clinvar_Rec_14456	rs759914119	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 3	RCV000700704;RCV000700704	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;605373	criteria provided, single submitter	tagSNP	rs759914119
Clinvar_Rec_14457	rs767802663	Uncertain significance	Gastrointestinal stromal tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 3	RCV000477280;RCV000167052;RCV000477280	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA140162;699346009;MedGen;605373	criteria provided, multiple submitters, no conflicts	tagSNP	rs767802663
Clinvar_Rec_14458	rs767802663	Uncertain significance	Gastrointestinal stromal tumor;Paragangliomas 3	RCV000233939;RCV000233939	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;605373	criteria provided, single submitter	tagSNP	rs767802663
Clinvar_Rec_14459	rs201286421	Pathogenic	Gastrointestinal stromal tumor;Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome;Paragangliomas 3;Paragangliomas 3;not provided	RCV000627763;RCV000505325;RCV000128874;RCV000034695;RCV000627763;RCV000486068	Human Phenotype Ontology;MeSH;MedGen;OMIM;Orphanet;Orphanet;Orphanet;SNOMED CT;OMIM;OMIM	HP;D046152;C0238198;606764;ORPHA44890;MedGen;ORPHA29072;MedGen;ORPHA140162;699346009;MedGen;605373;MedGen;605373;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs201286421
Clinvar_Rec_14460	rs876658398	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000213551	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876658398
Clinvar_Rec_14461	rs1553266504	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000561621	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1553266504
Clinvar_Rec_14462	rs886063727	Uncertain significance	Intellectual Disability, Recessive	RCV000329035	MedGen	CN239290	criteria provided, single submitter	tagSNP	rs886063727
Clinvar_Rec_14463	rs15172	Uncertain significance	Familial cancer of breast	RCV000162276	MedGen;OMIM;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006	no assertion criteria provided	tagSNP	rs15172
Clinvar_Rec_14464	rs573912384	Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000720888;RCV000864630;RCV000430284	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs201939255
Clinvar_Rec_14465	rs121912438	Pathogenic	Amyotrophic lateral sclerosis type 1	RCV000015882	MedGen;OMIM	C1862939;105400	no assertion criteria provided	tagSNP	rs121912438
Clinvar_Rec_14466	rs121912451	Pathogenic	Amyotrophic lateral sclerosis type 1	RCV000015897	MedGen;OMIM	C1862939;105400	no assertion criteria provided	tagSNP	rs121912451
Clinvar_Rec_14467	rs1555885056	Uncertain significance	Holocarboxylase synthetase deficiency	RCV000634877	MedGen;OMIM;Orphanet	C0268581;253270;ORPHA79242	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555885056
Clinvar_Rec_14468	rs201399681	Likely benign	Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy;Peripheral axonal neuropathy	RCV000326925;RCV000269576;RCV000365389	MedGen;Orphanet;Orphanet;SNOMED CT;MedGen	C0270914;ORPHA64746;MedGen;ORPHA53739;230247001;Human Phenotype Ontology;C1263857	criteria provided, single submitter	tagSNP	rs201399681
Clinvar_Rec_14469	rs369792814	Uncertain significance	Retinitis Pigmentosa, Dominant	RCV000387435	MedGen	CN239354	criteria provided, single submitter	tagSNP	rs369792814
Clinvar_Rec_14470	rs1555221205	Likely benign	Colorectal cancer, susceptibility to, 12	RCV000650998	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555221205
Clinvar_Rec_14471	rs1555221216	Uncertain significance	Colorectal cancer, susceptibility to, 12	RCV000650918	MedGen;OMIM	C3554460;615083	criteria provided, single submitter	tagSNP	rs1555221216
Clinvar_Rec_14472	rs201569782	Conflicting interpretations of pathogenicity	Colorectal cancer, susceptibility to, 12;not provided	RCV000461742;RCV000235266	MedGen;OMIM	C3554460;615083;MedGen	criteria provided, conflicting interpretations	LD derived	rs201273415
Clinvar_Rec_14473	rs17850194	Benign/Likely benign	Cardiovascular phenotype;not provided;not specified	RCV000252086;RCV000226718;RCV000036317	MedGen	CN230736;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs17850194
Clinvar_Rec_14474	rs757577112	Uncertain significance	Primary dilated cardiomyopathy	RCV000208058	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs757577112
Clinvar_Rec_14475	rs1555407795	Uncertain significance	Hypertrophic cardiomyopathy	RCV000560434	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1555407795
Clinvar_Rec_14476	rs1566962034	Uncertain significance	Hypertrophic cardiomyopathy	RCV000701011	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1566962034
Clinvar_Rec_14477	rs879253758	Likely pathogenic	Effort-induced polymorphic ventricular tachycardias	RCV000234880	Human Phenotype Ontology;MedGen	HP;C4025298	criteria provided, single submitter	tagSNP	rs879253758
Clinvar_Rec_14478	rs1555409132	Uncertain significance	Hypertrophic cardiomyopathy	RCV000628948	Human Phenotype Ontology;MedGen;Orphanet	HP;C0007194;ORPHA217569	criteria provided, single submitter	tagSNP	rs1555409132
Clinvar_Rec_14479	rs1566967710	Uncertain significance	Cardiomyopathy	RCV000770516	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001	criteria provided, single submitter	tagSNP	rs1566967710
Clinvar_Rec_14480	rs727504317	Pathogenic	Autism spectrum disorder;Cardio-facio-cutaneous syndrome;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 3;Cutaneous melanoma;Non-small cell lung cancer;Noonan syndrome;Rasopathy;not provided	RCV000754677;RCV000208771;RCV000844673;RCV000192193;RCV000423708;RCV000439184;RCV000844673;RCV000158004;RCV000212506	MedGen;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT;OMIM;MeSH;MedGen;MeSH;MedGen;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet	C1510586;ORPHA106;MedGen;ORPHA1340;403770008;MedGen;ORPHA1340;403770008;MedGen;615279;Human Phenotype Ontology;D008545;C0025202;Human Phenotype Ontology;D002289;C0007131;254637007;MeSH;C0028326;ORPHA648;205824006;MedGen;ORPHA536391;MedGen	reviewed by expert panel	tagSNP	rs727504317
Clinvar_Rec_14481	rs886051367	Uncertain significance	Cardio-facio-cutaneous syndrome;Noonan syndrome	RCV000325153;RCV000382006	MedGen;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT	C1275081;ORPHA1340;403770008;MeSH;C0028326;ORPHA648;205824006	criteria provided, single submitter	tagSNP	rs886051367
Clinvar_Rec_14482	rs1555412124	Uncertain significance	Cardiovascular phenotype	RCV000619877	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs1555412124
Clinvar_Rec_14483	rs3837692	Conflicting interpretations of pathogenicity	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000338546	MedGen	CN239323	criteria provided, conflicting interpretations	tagSNP	rs3837692
Clinvar_Rec_14484	rs3837692	Likely benign	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000279536	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs3837692
Clinvar_Rec_14485	rs3837692	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000350982	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs3837692
Clinvar_Rec_14486	rs3837692	Uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	RCV000390333	MedGen	CN239323	criteria provided, single submitter	tagSNP	rs3837692
Clinvar_Rec_14487	rs768422260	Conflicting interpretations of pathogenicity	Neuronal ceroid lipofuscinosis;not provided;not specified	RCV000989353;RCV000727479;RCV000187114	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007;MedGen	criteria provided, conflicting interpretations	tagSNP	rs768422260
Clinvar_Rec_14488	rs747229909	Uncertain significance	Neuronal ceroid lipofuscinosis	RCV000551912	MedGen;OMIM;Orphanet;SNOMED CT	C0027877;214200;ORPHA216;42012007	criteria provided, single submitter	tagSNP	rs747229909
Clinvar_Rec_14489	rs121907956	Conflicting interpretations of pathogenicity	Gm2-gangliosidosis, juvenile;Inborn genetic diseases;Tay-Sachs disease;not provided	RCV000004105;RCV000210735;RCV000338961;RCV000520531	MedGen;MedGen;OMIM;Orphanet;SNOMED CT	C0268276;MeSH;C0950123;MedGen;272800;ORPHA845;111385000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs121907956
Clinvar_Rec_14490	rs764343937	Likely pathogenic	Tay-Sachs disease	RCV000416480	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	no assertion criteria provided	tagSNP	rs764343937
Clinvar_Rec_14491	rs764343937	Pathogenic	Tay-Sachs disease	RCV000586741	MedGen;OMIM;Orphanet;SNOMED CT	C0039373;272800;ORPHA845;111385000	criteria provided, single submitter	tagSNP	rs764343937
Clinvar_Rec_14492	rs113678046	Benign/Likely benign	Bardet-Biedl syndrome;not specified	RCV000020939;RCV000253811	MedGen;Orphanet;SNOMED CT	C0752166;ORPHA110;5619004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs113678046
Clinvar_Rec_14493	rs150640195	Likely benign	Brugada syndrome 8	RCV000647268	MedGen;OMIM	C2751083;613123	criteria provided, single submitter	LD derived	rs201337528
Clinvar_Rec_14494	rs786205202	Likely pathogenic	Periventricular nodular heterotopia 1	RCV000170424	MedGen;OMIM;SNOMED CT	C1848213;300049;448227009	criteria provided, single submitter	tagSNP	rs786205202
Clinvar_Rec_14495	rs1382817700	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000687138;RCV000687138;RCV000687138;RCV000687138	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1382817700
Clinvar_Rec_14496	rs1347740802	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000640758;RCV000640758;RCV000640758;RCV000640758	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1347740802
Clinvar_Rec_14497	rs1347740802	Uncertain significance	Frontometaphyseal dysplasia 1;Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Periventricular nodular heterotopia 1	RCV000687630;RCV000687630;RCV000687630;RCV000687630	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;SNOMED CT	C4281559;305620;ORPHA1826;MedGen;309350;ORPHA2484;13449007;MedGen;304120;ORPHA90652;42432003;MedGen;300049;448227009	criteria provided, single submitter	tagSNP	rs1347740802
Clinvar_Rec_14498	rs4909	Benign	History of neurodevelopmental disorder;not specified	RCV000715271;RCV000081344	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs4909
Clinvar_Rec_14499	rs137852313	Conflicting interpretations of pathogenicity	Anemia, nonspherocytic hemolytic, due to G6PD deficiency;G6PD ILESHA;not provided	RCV000991017;RCV000011082;RCV000877409	MedGen;OMIM;Orphanet	C2720289;300908;ORPHA466026;na;MedGen	criteria provided, conflicting interpretations	tagSNP	rs137852313
Clinvar_Rec_14500	rs755436052	Conflicting interpretations of pathogenicity	Fumarase deficiency;not provided	RCV000696839;RCV000198662	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs755436052
Clinvar_Rec_14501	rs377660762	Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001024233;RCV000540139	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs377660762
Clinvar_Rec_14502	rs377660762	Uncertain significance	Fumarase deficiency	RCV000705532	MedGen;OMIM;Orphanet;SNOMED CT	C0342770;606812;ORPHA24;237983002	criteria provided, single submitter	tagSNP	rs377660762
Clinvar_Rec_14503	rs11537737	Benign/Likely benign	History of neurodevelopmental disorder;not provided	RCV000715861;RCV000516452	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs11537737
Clinvar_Rec_14504	rs7350928	Benign	MAPT-Related Spectrum Disorders;Syndromic intellectual disability	RCV000357992;RCV000288404	MedGen;Orphanet	CN239327;MedGen;ORPHA183763	criteria provided, single submitter	tagSNP	rs7350928
Clinvar_Rec_14505	rs1057519970	Likely pathogenic	Adenocarcinoma of prostate;Malignant neoplasm of body of uterus	RCV000432824;RCV000444738	MedGen;Orphanet	C0007112;MedGen;ORPHA213569	no assertion criteria provided	tagSNP	rs1057519970
Clinvar_Rec_14506	rs1057519969	Likely pathogenic	Adenocarcinoma of prostate;Malignant neoplasm of body of uterus	RCV000430450;RCV000423244	MedGen;Orphanet	C0007112;MedGen;ORPHA213569	no assertion criteria provided	tagSNP	rs1057519969
Clinvar_Rec_14507	rs72656314	Pathogenic	Osteogenesis imperfecta;Osteogenesis imperfecta type I;not provided	RCV000582506;RCV000018878;RCV000599479	MeSH;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001;MedGen;166200;ORPHA216796;385482004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72656314
Clinvar_Rec_14508	rs72651647	Pathogenic	Osteogenesis imperfecta	RCV000722160	MeSH;MedGen;Orphanet;SNOMED CT	D010013;C0029434;ORPHA666;78314001	no assertion criteria provided	tagSNP	rs72651647
Clinvar_Rec_14509	rs72651614	Pathogenic	Osteogenesis imperfecta type I	RCV000490706	MedGen;OMIM;Orphanet;SNOMED CT	C0023931;166200;ORPHA216796;385482004	criteria provided, single submitter	tagSNP	rs72651614
Clinvar_Rec_14510	rs202210475	Conflicting interpretations of pathogenicity	Alport syndrome;not provided	RCV000354389;RCV000935160	MedGen;Orphanet	C1567741;ORPHA63;MedGen	criteria provided, conflicting interpretations	tagSNP	rs202210475
Clinvar_Rec_14511	rs2853378	Benign	ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM	RCV000014644	-	-	no assertion criteria provided	LD derived	rs1130335
Clinvar_Rec_14512	rs2853378	Benign	ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM	RCV000014646	-	-	no assertion criteria provided	LD derived	rs1130335
Clinvar_Rec_14513	rs782569910	Likely benign	Spinal muscular atrophy, X-linked 2	RCV000544070	MedGen;OMIM;Orphanet	C1844934;301830;ORPHA1145	criteria provided, single submitter	tagSNP	rs782569910
Clinvar_Rec_14514	rs1114167283	Pathogenic	Focal dermal hypoplasia	RCV000491111	MedGen;OMIM;Orphanet	C0016395;305600;ORPHA2092	no assertion criteria provided	tagSNP	rs1114167283
Clinvar_Rec_14515	rs781844953	Uncertain significance	Inborn genetic diseases	RCV000623968	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs781844953
Clinvar_Rec_14516	rs782736361	Uncertain significance	Cornelia de Lange Syndrome	RCV000328546	MedGen	CN239271	criteria provided, single submitter	tagSNP	rs782736361
Clinvar_Rec_14517	rs782127256	Uncertain significance	Congenital muscular hypertrophy-cerebral syndrome	RCV000690033	MedGen;OMIM;SNOMED CT	C1802395;300590;55016009	criteria provided, single submitter	tagSNP	rs782127256
Clinvar_Rec_14518	rs1555933954	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	RCV000578270	MedGen;OMIM;Orphanet	C1839413;312170;ORPHA79243	criteria provided, single submitter	tagSNP	rs1555933954
Clinvar_Rec_14519	rs138237215	Benign/Likely benign	History of neurodevelopmental disorder;not provided;not specified	RCV000719832;RCV000916825;RCV000437837	MedGen	C2711754;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs138237215
Clinvar_Rec_14520	rs137853259	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency;not provided	RCV000011625;RCV000196576	MedGen;OMIM;Orphanet	C1839413;312170;ORPHA79243;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs137853259
Clinvar_Rec_14521	rs201590846	Likely benign	History of neurodevelopmental disorder	RCV000718024	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs201590846
Clinvar_Rec_14522	rs563504003	Uncertain significance	Renal dysplasia	RCV000353348	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266313;267430;ORPHA3033;204949001	criteria provided, single submitter	LD derived	rs148943954
Clinvar_Rec_14523	rs199801675	Conflicting interpretations of pathogenicity	Carney complex, type 1;Hereditary cancer-predisposing syndrome;not provided	RCV000692010;RCV001024136;RCV000493890	MedGen;OMIM;Orphanet;SNOMED CT	C2607929;160980;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199801675
Clinvar_Rec_14524	rs16851333	Likely benign	Charcot-Marie-Tooth disease, type 2	RCV000314361	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, single submitter	tagSNP	rs16851333
Clinvar_Rec_14525	rs267607193	Pathogenic	Cranioectodermal dysplasia 1	RCV000004901	MedGen;OMIM	C0432235;218330	no assertion criteria provided	tagSNP	rs267607193
Clinvar_Rec_14526	rs62622012	Uncertain significance	Amish lethal microcephaly	RCV000380971	MedGen;OMIM;Orphanet	C1846648;607196;ORPHA99742	criteria provided, single submitter	tagSNP	rs62622012
Clinvar_Rec_14527	rs1555598888	Uncertain significance	Glycogen storage disease, type II	RCV000666330	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C0017921;232300;ORPHA365;124462004;237967002	criteria provided, multiple submitters, no conflicts	tagSNP	rs1555598888
Clinvar_Rec_14528	rs563587973	Uncertain significance	Epileptic encephalopathy	RCV000531287	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs146811868
Clinvar_Rec_14529	rs1294023345	Uncertain significance	Epileptic encephalopathy	RCV000637110	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1294023345
Clinvar_Rec_14530	rs368486805	Uncertain significance	Epileptic encephalopathy	RCV000637108	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs368486805
Clinvar_Rec_14531	rs963388974	Uncertain significance	Epileptic encephalopathy	RCV000695274	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs963388974
Clinvar_Rec_14532	rs1555668215	Uncertain significance	Epileptic encephalopathy	RCV000525897	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	tagSNP	rs1555668215
Clinvar_Rec_14533	rs1558283853	Pathogenic	Diamond-Blackfan anemia	RCV000694413	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1558283853
Clinvar_Rec_14534	rs1060503527	Pathogenic	Diamond-Blackfan anemia	RCV000466439	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002	criteria provided, single submitter	tagSNP	rs1060503527
Clinvar_Rec_14535	rs786203213	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;MYH-associated polyposis	RCV000166426;RCV000778982	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798	criteria provided, conflicting interpretations	tagSNP	rs786203213
Clinvar_Rec_14536	rs373766973	Uncertain significance	Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified	RCV000132238;RCV000195451;RCV000656907;RCV000212698	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;608456;ORPHA247798;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373766973
Clinvar_Rec_14537	rs544816408	Uncertain significance	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;not provided	RCV000559267;RCV000559267;RCV000407481	MedGen;OMIM;OMIM;Orphanet	C3150412;613151;MedGen;613157;ORPHA206564;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs544816408
Clinvar_Rec_14538	rs1553164091	Likely benign	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	RCV000648207;RCV000648207	MedGen;OMIM;OMIM;Orphanet	C3150412;613151;MedGen;613157;ORPHA206564	criteria provided, single submitter	tagSNP	rs1553164091
Clinvar_Rec_14539	rs150576537	Conflicting interpretations of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related;Limb-Girdle Muscular Dystrophy, Recessive;Muscle eye brain disease;not provided;not specified	RCV000369008;RCV000312026;RCV000667593;RCV000710196;RCV000081803	MedGen;OMIM;Orphanet;SNOMED CT	CN239202;MedGen;253280;ORPHA588;277950001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs150576537
Clinvar_Rec_14540	rs372628779	Likely pathogenic	Abnormality of brain morphology	RCV000454209	Human Phenotype Ontology;MedGen	HP;C4021085	criteria provided, single submitter	tagSNP	rs372628779
Clinvar_Rec_14541	rs6149	Benign/Likely benign	Congenital cerebellar hypoplasia;not specified	RCV000333724;RCV000118819	Human Phenotype Ontology;MedGen;OMIM;Orphanet;SNOMED CT	HP;C0266470;213000;ORPHA1398;16026008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs6149
Clinvar_Rec_14542	rs1247427997	Pathogenic	Inborn genetic diseases	RCV000622321	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs1247427997
Clinvar_Rec_14543	rs397518448	Pathogenic	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	RCV000024096	MedGen;OMIM;Orphanet	C1859252;213980;ORPHA1394	no assertion criteria provided	tagSNP	rs397518448
Clinvar_Rec_14544	rs202007119	Uncertain significance	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B	RCV000664835;RCV000664835;RCV000664835	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004	criteria provided, single submitter	tagSNP	rs202007119
Clinvar_Rec_14545	rs72555391	Pathogenic	GM1 gangliosidosis;GM1 gangliosidosis;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;Mucopolysaccharidosis, MPS-IV-B;not provided	RCV000586055;RCV001034863;RCV000000981;RCV000119099;RCV001034863;RCV000174679	MedGen;Orphanet;Orphanet;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0085131;ORPHA354;MedGen;ORPHA354;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004;MedGen;253010;ORPHA309310;238044004;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs72555391
Clinvar_Rec_14546	rs72555365	Uncertain significance	GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;Mucopolysaccharidosis, MPS-IV-B	RCV000665872;RCV000665872;RCV000119100;RCV000665872	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0268272;230600;ORPHA79256;18756002;MedGen;230500;ORPHA79255;238026007;MedGen;253010;ORPHA309310;238044004;MedGen;253010;ORPHA309310;238044004	criteria provided, single submitter	tagSNP	rs72555365
Clinvar_Rec_14547	rs63750527	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome;Lynch syndrome II;Lynch syndrome II;Muir-Torré syndrome;Turcot syndrome;not provided;not specified	RCV000115458;RCV000075179;RCV000410484;RCV000764492;RCV000764492;RCV000764492;RCV000587838;RCV000200984	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;OMIM;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen;609310;MedGen;609310;MedGen;158320;ORPHA587;403824007;MedGen;276300;ORPHA252202;61665008;MedGen	criteria provided, conflicting interpretations	tagSNP	rs63750527
Clinvar_Rec_14548	rs73058292	Uncertain significance	Anemia, sideroblastic, 1;Refractory anemia with ringed sideroblasts (clinical)	RCV000285639;RCV000382297	MedGen;OMIM;Orphanet;MedGen;Orphanet;SNOMED CT	C4551511;300751;ORPHA75563;Human Phenotype Ontology;C1264195;ORPHA75564;109998009	criteria provided, single submitter	tagSNP	rs73058292
Clinvar_Rec_14549	rs1566888718	Pathogenic	Marfan lipodystrophy syndrome	RCV000755758	MedGen;OMIM;Orphanet	C4310796;616914;ORPHA300382	no assertion criteria provided	tagSNP	rs1566888718
Clinvar_Rec_14550	rs886038786	Pathogenic/Likely pathogenic	Cardiovascular phenotype;Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;not provided	RCV000251768;RCV000780252;RCV000794952;RCV000794952;RCV000480933	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	CN230736;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886038786
Clinvar_Rec_14551	rs363830	Uncertain significance	Thoracic aortic aneurysm and aortic dissection	RCV000769624	MedGen;Orphanet	C4707243;ORPHA91387	criteria provided, single submitter	tagSNP	rs363830
Clinvar_Rec_14552	rs363830	Benign	Acromicric dysplasia;Cardiovascular phenotype;Ectopia lentis;Geleophysic dysplasia;MASS syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome;not specified	RCV000304078;RCV000617036;RCV000343590;RCV000288735;RCV000397636;RCV000292617;RCV000475789;RCV000386791;RCV000245186;RCV000475789;RCV000347533;RCV000035258	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;C0013581;ORPHA1885;74969002;MedGen;ORPHA2623;MedGen;604308;ORPHA99715;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;ORPHA91387;MedGen;ORPHA3449;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs363830
Clinvar_Rec_14553	rs363830	Benign	Acromicric dysplasia;Ectopia lentis;Geleophysic dysplasia;MASS syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome;not specified	RCV000286302;RCV000375268;RCV000321497;RCV000318289;RCV000343824;RCV000464649;RCV000264054;RCV000260707;RCV000464649;RCV000378426;RCV000035278	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C0265287;102370;ORPHA969;254090007;Human Phenotype Ontology;C0013581;ORPHA1885;74969002;MedGen;ORPHA2623;MedGen;604308;ORPHA99715;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;ORPHA91387;MedGen;ORPHA3449;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs363838
Clinvar_Rec_14554	rs363830	Benign	Acromicric dysplasia;Cardiovascular phenotype;Ectopia lentis;Geleophysic dysplasia;MASS syndrome;Marfan syndrome;Marfan syndrome;Stiff skin syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;Weill-Marchesani syndrome;not specified	RCV000275176;RCV000617035;RCV000333900;RCV000401534;RCV000354920;RCV000358853;RCV000462738;RCV000260037;RCV000248305;RCV000462738;RCV000300615;RCV000035257	MedGen;OMIM;Orphanet;SNOMED CT;MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;C0013581;ORPHA1885;74969002;MedGen;ORPHA2623;MedGen;604308;ORPHA99715;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;ORPHA91387;MedGen;ORPHA91387;MedGen;ORPHA3449;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs363836
Clinvar_Rec_14555	rs1555394641	Pathogenic	Marfan syndrome	RCV000663910	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555394641
Clinvar_Rec_14556	rs727504410	Pathogenic	Marfan syndrome	RCV000154597	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs727504410
Clinvar_Rec_14557	rs886038897	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;not provided	RCV000241785;RCV000788803	MedGen	CN230736;MedGen	criteria provided, conflicting interpretations	tagSNP	rs886038897
Clinvar_Rec_14558	rs1566904712	Uncertain significance	Acromicric dysplasia;Ectopia lentis, isolated, autosomal dominant;Geleophysic dysplasia 2;MASS syndrome;Marfan lipodystrophy syndrome;Marfan syndrome;Stiff skin syndrome;Weill-Marchesani syndrome 2	RCV000768216;RCV000768216;RCV000768216;RCV000768216;RCV000768216;RCV000768216;RCV000768216;RCV000768216	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;OMIM;Orphanet	C0265287;102370;ORPHA969;254090007;MedGen;129600;MedGen;614185;MedGen;604308;ORPHA99715;MedGen;616914;ORPHA300382;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;184900;ORPHA2833;MedGen;608328;ORPHA2084	criteria provided, single submitter	tagSNP	rs1566904712
Clinvar_Rec_14559	rs1555398171	Uncertain significance	Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000631980;RCV000631980	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs1555398171
Clinvar_Rec_14560	rs763485521	Uncertain significance	Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection	RCV000556661;RCV000663623;RCV000556661	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet	C0024796;154700;ORPHA284963;ORPHA558;19346006;MedGen;154700;ORPHA284963;ORPHA558;19346006;MedGen;ORPHA91387	criteria provided, single submitter	tagSNP	rs763485521
Clinvar_Rec_14561	rs193922182	Likely pathogenic	Marfan syndrome	RCV000029698	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	criteria provided, single submitter	tagSNP	rs193922182
Clinvar_Rec_14562	rs1555400049	Pathogenic	Marfan syndrome	RCV000663483	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT	C0024796;154700;ORPHA284963;ORPHA558;19346006	no assertion criteria provided	tagSNP	rs1555400049
Clinvar_Rec_14563	rs1467438651	Uncertain significance	Slowed nerve conduction velocity, autosomal dominant	RCV000521194	MedGen;OMIM;Orphanet	C1842357;608236;ORPHA140481	no assertion criteria provided	tagSNP	rs1467438651
Clinvar_Rec_14564	rs1057519716	Pathogenic	Neoplasm of the breast	RCV000431430	Human Phenotype Ontology;MeSH;MedGen;Orphanet;SNOMED CT	HP;D001943;C1458155;ORPHA180250;126926005	no assertion criteria provided	tagSNP	rs1057519716
Clinvar_Rec_14565	rs146925988	Uncertain significance	Pol III-related leukodystrophy	RCV000313281	MedGen;Orphanet	CN168056;ORPHA289494	criteria provided, single submitter	tagSNP	rs146925988
Clinvar_Rec_14566	rs144291219	Conflicting interpretations of pathogenicity	Diamond-Blackfan anemia;not provided	RCV000275227;RCV000870374	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C1260899;ORPHA124;88854002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs144291219
Clinvar_Rec_14567	rs377102711	Uncertain significance	Cone-Rod Dystrophy, Recessive	RCV000397405	MedGen	CN239309	criteria provided, single submitter	tagSNP	rs377102711
Clinvar_Rec_14568	rs587782578	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Hereditary mixed polyposis syndrome 2;Juvenile polyposis syndrome;Juvenile polyposis syndrome;not provided	RCV000131806;RCV000515265;RCV000200056;RCV000515265;RCV000484680	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;610069;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen;174900;ORPHA2929;ORPHA329971;9273005;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587782578
Clinvar_Rec_14569	rs184050583	Conflicting interpretations of pathogenicity	Cardiovascular phenotype;Myofibrillar myopathy, ZASP-related;not provided;not specified	RCV000618465;RCV000233347;RCV000867236;RCV000038747	MedGen;OMIM;Orphanet	CN230736;MedGen;609452;ORPHA98912;MedGen	criteria provided, conflicting interpretations	LD derived	rs140552419
Clinvar_Rec_14570	rs797044899	Uncertain significance	Inborn genetic diseases	RCV000190723	MeSH;MedGen	D030342;C0950123	criteria provided, single submitter	tagSNP	rs797044899
Clinvar_Rec_14571	rs587777929	Pathogenic	Myocardial infarction 1	RCV000077778	MedGen;OMIM	C1832662;608446	no assertion criteria provided	tagSNP	rs587777929
Clinvar_Rec_14572	rs753618444	Uncertain significance	Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy type 7B;Perry syndrome	RCV000685518;RCV000685518;RCV000685518	MedGen;OMIM;OMIM;OMIM;Orphanet	C1862939;105400;MedGen;607641;MedGen;168605;ORPHA178509	criteria provided, single submitter	tagSNP	rs753618444
Clinvar_Rec_14573	rs886039228	Pathogenic	Perry syndrome	RCV000242533	MedGen;OMIM;Orphanet	C1868594;168605;ORPHA178509	no assertion criteria provided	tagSNP	rs886039228
Clinvar_Rec_14574	rs886052709	Uncertain significance	Lissencephaly/Subcortical Band Heterotopia	RCV000373968	MedGen	CN239259	criteria provided, single submitter	tagSNP	rs886052709
Clinvar_Rec_14575	rs587784250	Likely pathogenic	Lissencephaly due to LIS1 mutation;not provided	RCV000147019;RCV000484701	MedGen;OMIM;Orphanet	C0431375;607432;ORPHA95232;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587784250
Clinvar_Rec_14576	rs587784257	Pathogenic	Lissencephaly due to LIS1 mutation	RCV000147027	MedGen;OMIM;Orphanet	C0431375;607432;ORPHA95232	criteria provided, single submitter	tagSNP	rs587784257
Clinvar_Rec_14577	rs73973671	Benign	Ataxia, spastic, 2, autosomal recessive;not specified	RCV000530891;RCV000419092	MedGen;OMIM;Orphanet	C1969796;611302;ORPHA397946;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs57144955
Clinvar_Rec_14578	rs73973671	Benign	Ataxia, spastic, 2, autosomal recessive;not specified	RCV000537257;RCV000425902	MedGen;OMIM;Orphanet	C1969796;611302;ORPHA397946;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs73345356
Clinvar_Rec_14579	rs553650590	Likely benign	Cone-Rod Dystrophy, Dominant	RCV000265837	MedGen	CN239348	criteria provided, single submitter	tagSNP	rs553650590
Clinvar_Rec_14580	rs557260142	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000652033	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs557260142
Clinvar_Rec_14581	rs1451455641	Uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	RCV000706755	MedGen;OMIM;Orphanet;SNOMED CT	C3887523;201475;ORPHA26793;237997005	criteria provided, single submitter	tagSNP	rs1451455641
Clinvar_Rec_14582	rs145983820	Uncertain significance	Congenital disorder of glycosylation	RCV000328237	MedGen;Orphanet;SNOMED CT	C0282577;ORPHA137;238049009	criteria provided, single submitter	tagSNP	rs145983820
Clinvar_Rec_14583	rs1567551730	Uncertain significance	Li-Fraumeni syndrome	RCV000703646	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs1567551730
Clinvar_Rec_14584	rs1567551718	Pathogenic	Ovarian Neoplasms	RCV000785499	MeSH;MedGen	D010051;CN236629	no assertion criteria provided	tagSNP	rs1567551718
Clinvar_Rec_14585	rs730881999	Conflicting interpretations of pathogenicity	Li-Fraumeni syndrome;Ovarian Neoplasms;not provided;not specified	RCV000633384;RCV000785332;RCV000161024;RCV000606528	MedGen;Orphanet;SNOMED CT;MedGen	C0085390;ORPHA524;428850001;MeSH;CN236629;MedGen	criteria provided, conflicting interpretations	tagSNP	rs730881999
Clinvar_Rec_14586	rs730881999	Uncertain significance	Li-Fraumeni syndrome	RCV000205404	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs730881999
Clinvar_Rec_14587	rs730882023	Uncertain significance	Li-Fraumeni syndrome	RCV000545045	MedGen;Orphanet;SNOMED CT	C0085390;ORPHA524;428850001	criteria provided, single submitter	tagSNP	rs730882023
Clinvar_Rec_14588	rs150796093	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000330914	MedGen	CN239315	criteria provided, single submitter	LD derived	rs149513613
Clinvar_Rec_14589	rs201787275	Likely pathogenic	Leukoencephalopathy, brain calcifications, and cysts;not provided	RCV000256201;RCV000762201	MedGen;OMIM;Orphanet	C3281200;614561;ORPHA542310;MedGen	criteria provided, single submitter	tagSNP	rs201787275
Clinvar_Rec_14590	rs753309673	Uncertain significance	Dyskeratosis Congenita, Recessive	RCV000385460	MedGen	CN239315	criteria provided, single submitter	tagSNP	rs753309673
Clinvar_Rec_14591	rs183556317	Conflicting interpretations of pathogenicity	Dyskeratosis Congenita, Recessive;not provided	RCV000334784;RCV000473282	MedGen	CN239315;MedGen	criteria provided, conflicting interpretations	tagSNP	rs183556317
Clinvar_Rec_14592	rs1171819624	Likely benign	Dyskeratosis congenita	RCV000552571	MedGen;Orphanet;SNOMED CT	C0265965;ORPHA1775;74911008	criteria provided, single submitter	tagSNP	rs1171819624
Clinvar_Rec_14593	rs397514767	Pathogenic	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	RCV000054836	MedGen;OMIM;Orphanet	C2676767;612300;ORPHA169464	no assertion criteria provided	tagSNP	rs397514767
Clinvar_Rec_14594	rs758659684	Uncertain significance	Osteopetrosis with renal tubular acidosis	RCV000369624	MedGen;OMIM;Orphanet;SNOMED CT	C0345407;259730;ORPHA2785;254122007	criteria provided, single submitter	tagSNP	rs758659684
Clinvar_Rec_14595	rs144555424	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000371585	MedGen	CN239175	criteria provided, single submitter	LD derived	rs117466368
Clinvar_Rec_14596	rs144555424	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000341537	MedGen	CN239175	criteria provided, single submitter	LD derived	rs117053048
Clinvar_Rec_14597	rs144555424	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000340268	MedGen	CN239175	criteria provided, single submitter	LD derived	rs45591635
Clinvar_Rec_14598	rs144555424	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000270250	MedGen	CN239175	criteria provided, single submitter	LD derived	rs45525731
Clinvar_Rec_14599	rs144555424	Likely benign	Amyotrophic Lateral Sclerosis, Dominant	RCV000370715	MedGen	CN239175	criteria provided, single submitter	LD derived	rs117978329
Clinvar_Rec_14600	rs1270423610	Pathogenic	Pyridoxine-dependent epilepsy;not provided	RCV000553088;RCV000760371	MedGen;OMIM;Orphanet	C1849508;266100;ORPHA3006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1270423610
Clinvar_Rec_14601	rs397514493	Pathogenic	Autosomal recessive axonal neuropathy with neuromyotonia	RCV000030858	MedGen;OMIM;Orphanet;SNOMED CT	CN074193;137200;ORPHA324442;711406009	no assertion criteria provided	tagSNP	rs397514493
Clinvar_Rec_14602	rs876660015	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome	RCV000221730	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, conflicting interpretations	tagSNP	rs876660015
Clinvar_Rec_14603	rs876659962	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000214065	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs876659962
Clinvar_Rec_14604	rs1319638903	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000632190	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1319638903
Clinvar_Rec_14605	rs786203805	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000571089	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203805
Clinvar_Rec_14606	rs786203805	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000167267	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203805
Clinvar_Rec_14607	rs786203805	Likely pathogenic	Hereditary cancer-predisposing syndrome	RCV000167343	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786203805
Clinvar_Rec_14608	rs778360818	Likely pathogenic	Aplasia/hypoplasia of the femur;Bowing of the long bones;Camptodactyly;Cleft of soft palate;Clubfoot;Femoral bowing;Radial bowing;Short femur;Ulnar bowing	RCV000415031;RCV000415031;RCV000415031;RCV000415031;RCV000415031;RCV000415031;RCV000415031;RCV000415031;RCV000415031	Human Phenotype Ontology;MedGen;MedGen;MedGen;MedGen;OMIM;Orphanet;SNOMED CT;MedGen;OMIM;MedGen;MedGen;MedGen;Orphanet;MedGen	HP;C1851310;Human Phenotype Ontology;C1855340;Human Phenotype Ontology;C0685409;Human Phenotype Ontology;C0432098;119570;ORPHA99772;253997002;Human Phenotype Ontology;C0009081;119800;Human Phenotype Ontology;C1859461;Human Phenotype Ontology;C1859399;Human Phenotype Ontology;C0345375;ORPHA1987;Human Phenotype Ontology;C1865847	criteria provided, single submitter	tagSNP	rs778360818
Clinvar_Rec_14609	rs104886042	Pathogenic	Alport syndrome 1, X-linked recessive	RCV000021118	MedGen;OMIM;Orphanet	C4746986;301050;ORPHA88917	no assertion criteria provided	tagSNP	rs104886042
Clinvar_Rec_14610	rs794727881	Pathogenic	Mental retardation, syndromic 14, X-linked;not provided	RCV000012151;RCV000494240	MedGen;OMIM	C1970822;300676;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs794727881
Clinvar_Rec_14611	rs762040027	Uncertain significance	Rigidity and multifocal seizure syndrome, lethal neonatal	RCV000650110	MedGen;OMIM;Orphanet	C3281029;614498;ORPHA435845	criteria provided, single submitter	tagSNP	rs762040027
Clinvar_Rec_14612	rs1801591	Benign/Likely benign	Glutaric aciduria, type 2;not provided;not specified	RCV000377415;RCV000676979;RCV000078134	MedGen;OMIM;Orphanet;SNOMED CT	C0268596;231680;ORPHA26791;22886006;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1801591
Clinvar_Rec_14613	rs138461165	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000540824;RCV000658723	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs138461165
Clinvar_Rec_14614	rs760960779	Likely benign	Bone marrow failure syndrome 1	RCV000272329	MedGen;OMIM;Orphanet	C3808553;614675;ORPHA314399	criteria provided, single submitter	tagSNP	rs760960779
Clinvar_Rec_14615	rs185290341	Uncertain significance	Nail-patella syndrome	RCV000298240	MedGen;OMIM;Orphanet;SNOMED CT	C0027341;161200;ORPHA2614;22199006	criteria provided, single submitter	tagSNP	rs185290341
Clinvar_Rec_14616	rs150764997	Likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	RCV000291210	MedGen	CN239232	criteria provided, single submitter	tagSNP	rs150764997
Clinvar_Rec_14617	rs774429348	Pathogenic	Hereditary hemorrhagic telangiectasia type 1	RCV000633138	MedGen;OMIM	C4551861;187300	criteria provided, single submitter	tagSNP	rs774429348
Clinvar_Rec_14618	rs104894101	Pathogenic	Adenylate kinase deficiency, hemolytic anemia due to	RCV000019925	MedGen;OMIM;Orphanet	C2675459;612631;ORPHA86817	no assertion criteria provided	tagSNP	rs104894101
Clinvar_Rec_14619	rs780188256	Uncertain significance	Dystonia	RCV000704623	Human Phenotype Ontology;MedGen	HP;C0013421	criteria provided, single submitter	tagSNP	rs780188256
Clinvar_Rec_14620	rs770687111	Uncertain significance	Coenzyme Q10 deficiency, primary, 7	RCV000555018	MedGen;OMIM;Orphanet	C4225392;616276;ORPHA457185	criteria provided, single submitter	tagSNP	rs770687111
Clinvar_Rec_14621	rs1554776342	Pathogenic	Inborn genetic diseases;MENTAL RETARDATION, AUTOSOMAL DOMINANT 58;not provided	RCV000622364;RCV000678248;RCV001008142	MeSH;MedGen;OMIM	D030342;C0950123;MedGen;618106;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1554776342
Clinvar_Rec_14622	rs149938546	Uncertain significance	Citrullinemia type I	RCV000706172	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs149938546
Clinvar_Rec_14623	rs1554982834	Uncertain significance	Citrullinemia type I	RCV000533818	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs1554982834
Clinvar_Rec_14624	rs936192871	Pathogenic	Citrullinemia type I	RCV000552381	MedGen;OMIM;Orphanet	C4721769;215700;ORPHA247525	criteria provided, single submitter	tagSNP	rs936192871
Clinvar_Rec_14625	rs1060502251	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000466743	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs1060502251
Clinvar_Rec_14626	rs145552797	Uncertain significance	Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type	RCV000620582;RCV000687439	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	CN230736;MedGen;130000;ORPHA287;20766005;83470009	criteria provided, multiple submitters, no conflicts	tagSNP	rs145552797
Clinvar_Rec_14627	rs745934765	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000550682	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs745934765
Clinvar_Rec_14628	rs370059571	Conflicting interpretations of pathogenicity	Hypermethioninemia;not provided	RCV000363924;RCV000911136	Human Phenotype Ontology;MedGen	HP;C4048705;MedGen	criteria provided, conflicting interpretations	tagSNP	rs370059571
Clinvar_Rec_14629	rs201408175	Uncertain significance	Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2	RCV000537883;RCV000537883	MedGen;OMIM;OMIM	C4225313;616471;MedGen;616470	criteria provided, single submitter	tagSNP	rs201408175
Clinvar_Rec_14630	rs200205409	Uncertain significance	Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not provided;not specified	RCV000371172;RCV000314135;RCV000757545;RCV000612094	MedGen	CN239435;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs200205409
Clinvar_Rec_14631	rs1555611039	Likely pathogenic	Neurofibromatosis, type 1	RCV000553362	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1555611039
Clinvar_Rec_14632	rs1567835847	Likely pathogenic	Neurofibromatosis, type 1	RCV000705299	MedGen;OMIM;Orphanet;SNOMED CT	C0027831;162200;ORPHA636;92824003	criteria provided, single submitter	tagSNP	rs1567835847
Clinvar_Rec_14633	rs1567858976	Pathogenic	Short stature	RCV000736220	Human Phenotype Ontology;MedGen	HP;C0349588	no assertion criteria provided	tagSNP	rs1567858976
Clinvar_Rec_14634	rs776043160	Uncertain significance	Meier-Gorlin syndrome;not provided	RCV000374446;RCV001038572	MedGen;Orphanet	C1868684;ORPHA2554;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs776043160
Clinvar_Rec_14635	rs377136485	Uncertain significance	Hereditary cancer-predisposing syndrome;Meningioma, familial	RCV000563096;RCV000638928	MedGen;Orphanet;SNOMED CT;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;607174;ORPHA263662	criteria provided, multiple submitters, no conflicts	tagSNP	rs377136485
Clinvar_Rec_14636	rs1060501395	Pathogenic	Meningioma, familial	RCV000466082	MedGen;OMIM;Orphanet	C3551915;607174;ORPHA263662	criteria provided, single submitter	tagSNP	rs1060501395
Clinvar_Rec_14637	rs199826380	Conflicting interpretations of pathogenicity	Cardiomyopathy;not provided	RCV000852719;RCV000171959	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	HP;C0878544;ORPHA167848;85898001;MedGen	criteria provided, conflicting interpretations	tagSNP	rs199826380
Clinvar_Rec_14638	rs147387411	Uncertain significance	Osteogenesis Imperfecta, Recessive	RCV000373995	MedGen	CN239451	criteria provided, single submitter	LD derived	rs533813401
Clinvar_Rec_14639	rs118203970	Pathogenic	Severe congenital neutropenia 4, autosomal recessive	RCV000001094	MedGen;OMIM;Orphanet	C2675526;612541;ORPHA331176	no assertion criteria provided	tagSNP	rs118203970
Clinvar_Rec_14640	rs778599933	Conflicting interpretations of pathogenicity	Ceroid lipofuscinosis, neuronal, 11;not provided	RCV000822240;RCV000712530	MedGen;OMIM;Orphanet	C3539123;614706;ORPHA314629;MedGen	criteria provided, conflicting interpretations	tagSNP	rs778599933
Clinvar_Rec_14641	rs398124650	Conflicting interpretations of pathogenicity	Long QT syndrome 1;Long QT syndrome 15	RCV000532708;RCV000523452	MedGen;OMIM;OMIM	C4551647;192500;MedGen;616249	criteria provided, conflicting interpretations	tagSNP	rs398124650
Clinvar_Rec_14642	rs398124650	Pathogenic/Likely pathogenic	Long QT syndrome 1;Long QT syndrome 15	RCV000143839;RCV000162066	MedGen;OMIM;OMIM	C4551647;192500;MedGen;616249	no assertion criteria provided	tagSNP	rs398124650
Clinvar_Rec_14643	rs760058815	Likely benign	Hereditary cancer-predisposing syndrome	RCV000572599	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs760058815
Clinvar_Rec_14644	rs1558459840	Likely benign	Hereditary cancer-predisposing syndrome;not specified	RCV001025153;RCV000780456	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs1558459840
Clinvar_Rec_14645	rs1477257356	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000582679	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs1477257356
Clinvar_Rec_14646	rs63750393	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;not provided	RCV000491995;RCV000627733;RCV000030243;RCV000409229;RCV000115505	MedGen;Orphanet;SNOMED CT;Orphanet;Orphanet;OMIM	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;ORPHA144;MedGen;120435;MedGen	reviewed by expert panel	tagSNP	rs63750393
Clinvar_Rec_14647	rs63750393	Pathogenic	Lynch syndrome	RCV000076254	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs63750393
Clinvar_Rec_14648	rs757817018	Uncertain significance	Hereditary cancer-predisposing syndrome	RCV000774590	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs757817018
Clinvar_Rec_14649	rs1553412286	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000771540;RCV000630150	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553412286
Clinvar_Rec_14650	rs267608046	Pathogenic	Lynch syndrome	RCV000074658	MedGen;Orphanet	C1333990;ORPHA144	reviewed by expert panel	tagSNP	rs267608046
Clinvar_Rec_14651	rs1264762735	Uncertain significance	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer	RCV000570527;RCV000816280	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090	criteria provided, multiple submitters, no conflicts	tagSNP	rs1264762735
Clinvar_Rec_14652	rs267608120	Pathogenic	Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided	RCV000215904;RCV000524198;RCV000411917;RCV000074956;RCV000485556	MedGen;Orphanet;SNOMED CT;Orphanet;OMIM;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA443090;MedGen;614350;MedGen;ORPHA144;MedGen	reviewed by expert panel	tagSNP	rs267608120
Clinvar_Rec_14653	rs1553333707	Pathogenic	Hereditary nonpolyposis colon cancer;Lynch syndrome	RCV001035303;RCV000502368	MedGen;Orphanet;Orphanet	C0009405;ORPHA443090;MedGen;ORPHA144	criteria provided, multiple submitters, no conflicts	tagSNP	rs1553333707
Clinvar_Rec_14654	rs1553333707	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;Lynch syndrome	RCV001021540;RCV000758616	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144	criteria provided, conflicting interpretations	tagSNP	rs1553333707
Clinvar_Rec_14655	rs770368316	Uncertain significance	Fanconi anemia	RCV000460926	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, single submitter	tagSNP	rs770368316
Clinvar_Rec_14656	rs267607110	no interpretation for the single variant	Lattice corneal dystrophy Type I	RCV000008323	MedGen;OMIM;Orphanet;SNOMED CT	C1690006;122200;ORPHA98964;419197009	no interpretation for the single variant	tagSNP	rs267607110
Clinvar_Rec_14657	rs772570880	Pathogenic	Even-plus syndrome	RCV000209995	MedGen;OMIM;Orphanet	C4225180;616854;ORPHA496751	no assertion criteria provided	tagSNP	rs772570880
Clinvar_Rec_14658	rs28363488	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided	RCV001014082;RCV000232380	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs28363488
Clinvar_Rec_14659	rs143473232	Pathogenic	Charcot-Marie-Tooth disease, axonal, type 2w	RCV000201522	MedGen;OMIM;Orphanet	C4225265;616625;ORPHA488333	no assertion criteria provided	tagSNP	rs143473232
Clinvar_Rec_14660	rs754488411	Uncertain significance	Retinitis pigmentosa-deafness syndrome	RCV000277447	MedGen;OMIM;SNOMED CT	CN033130;500004;57838006	criteria provided, single submitter	tagSNP	rs754488411
Clinvar_Rec_14661	rs376345065	Uncertain significance	Werner syndrome	RCV000686451	MedGen;OMIM;Orphanet;SNOMED CT	C0043119;277700;ORPHA902;51626007	criteria provided, single submitter	tagSNP	rs376345065
Clinvar_Rec_14662	rs2915665	Benign/Likely benign	Craniosynostosis;Hypogonadism with anosmia;Nonsyndromic Trigonocephaly;Osteoglophonic dysplasia;Pfeiffer syndrome;not provided;not specified	RCV000343521;RCV000383009;RCV000283836;RCV000379366;RCV000280310;RCV000559179;RCV000177333	Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;Orphanet;Orphanet	HP;C1849943;MedGen;ORPHA478;93559003;MedGen;166250;ORPHA2645;254144002;MedGen;101600;ORPHA710;ORPHA93258;ORPHA93259;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs2915665
Clinvar_Rec_14663	rs752169833	Pathogenic	Parkinson disease 22, autosomal dominant	RCV000203222	MedGen;OMIM	C4225238;616710	no assertion criteria provided	tagSNP	rs752169833
Clinvar_Rec_14664	rs786204882	Pathogenic	Hereditary cancer-predisposing syndrome	RCV000169823	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009	criteria provided, single submitter	tagSNP	rs786204882
Clinvar_Rec_14665	rs1085308044	Pathogenic	PTEN hamartoma tumor syndrome	RCV000490596	MedGen;OMIM;Orphanet	C1959582;601728;ORPHA306498	criteria provided, single submitter	tagSNP	rs1085308044
Clinvar_Rec_14666	rs553919355	Conflicting interpretations of pathogenicity	Seizures;not provided;not specified	RCV000715787;RCV000725138;RCV000187081	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, conflicting interpretations	LD derived	rs145247814
Clinvar_Rec_14667	rs1555534579	Uncertain significance	Fanconi anemia, complementation group A	RCV000674692	MedGen;OMIM	C3469521;227650	criteria provided, single submitter	tagSNP	rs1555534579
Clinvar_Rec_14668	rs886039783	Pathogenic	Leukoencephalopathy, brain calcifications, and cysts	RCV000256193	MedGen;OMIM;Orphanet	C3281200;614561;ORPHA542310	no assertion criteria provided	tagSNP	rs886039783
Clinvar_Rec_14669	rs56771886	Pathogenic	Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;not provided	RCV000015581;RCV000681609;RCV000057492	MedGen;OMIM;Orphanet;OMIM;Orphanet;SNOMED CT	C1449563;115200;ORPHA300751;MedGen;181350;ORPHA98853;240072005;MedGen	no assertion criteria provided	tagSNP	rs56771886
Clinvar_Rec_14670	rs545408223	Uncertain significance	Jeune thoracic dystrophy	RCV000351201	MedGen;Orphanet;SNOMED CT	C0265275;ORPHA474;75049004	criteria provided, single submitter	tagSNP	rs545408223
Clinvar_Rec_14671	rs35223459	Likely benign	Nonsyndromic Hearing Loss, Recessive	RCV000270857	MedGen	CN239439	criteria provided, single submitter	LD derived	rs9462125
Clinvar_Rec_14672	rs184742432	Likely benign	Hereditary cancer-predisposing syndrome;Lynch syndrome;not provided;not specified	RCV000571759;RCV000758629;RCV000982398;RCV000422601	MedGen;Orphanet;SNOMED CT;Orphanet	C0027672;ORPHA140162;699346009;MedGen;ORPHA144;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs542520309
Clinvar_Rec_14673	rs184742432	Likely benign	Hereditary nonpolyposis colon cancer	RCV000474933	MedGen;Orphanet	C0009405;ORPHA443090	criteria provided, single submitter	LD derived	rs542520309
Clinvar_Rec_14674	rs184742432	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000165520;RCV000197108;RCV000440278	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs542520309
Clinvar_Rec_14675	rs879192165	Pathogenic	Diabetes-deafness syndrome maternally transmitted	RCV000258038	MedGen;OMIM;Orphanet;SNOMED CT	C0342289;520000;ORPHA225;237619009	no assertion criteria provided	tagSNP	rs879192165
Clinvar_Rec_14676	rs1057516070	Benign	Developmental delay;Episodic vomiting;Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;Mild liver congestion;Sudden death;not provided	RCV000408954;RCV000408927;RCV000851097;RCV000408927;RCV000408927;RCV000662335	MedGen;MedGen;OMIM;Orphanet;SNOMED CT;MedGen	C0424605;Human Phenotype Ontology;C1838993;MedGen;540000;ORPHA550;39925003;MedGen;C0011071;MedGen	criteria provided, single submitter	tagSNP	rs1057516070
Clinvar_Rec_14677	rs147242385	Likely benign	Familial hypercholesterolemia 4	RCV000644531	MedGen;OMIM	C1863512;603813	criteria provided, single submitter	tagSNP	rs147242385
Clinvar_Rec_14678	rs34698071	Benign/Likely benign	Chronic infantile neurological, cutaneous and articular syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome;not provided;not specified	RCV000404145;RCV000279144;RCV000336634;RCV000872603;RCV000127223	MedGen;OMIM;Orphanet;SNOMED CT;OMIM;Orphanet;SNOMED CT	C0409818;607115;ORPHA1451;239826001;MedGen;191900;ORPHA575;15123008;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs34698071
Clinvar_Rec_14679	rs74315334	Pathogenic	Glaucoma 1, open angle, A;not provided	RCV000008415;RCV000255116	MedGen;OMIM	C1842028;137750;MedGen	criteria provided, single submitter	tagSNP	rs74315334
Clinvar_Rec_14680	rs375957043	Uncertain significance	Carnitine palmitoyltransferase II deficiency	RCV000699030	MedGen;Orphanet;SNOMED CT	C0342790;ORPHA157;238002005	criteria provided, single submitter	tagSNP	rs375957043
Clinvar_Rec_14681	rs199991063	Uncertain significance	Dilated cardiomyopathy 1HH;Myofibrillar myopathy, BAG3-related;not provided	RCV001049731;RCV001049731;RCV000171875	MedGen;OMIM;OMIM;Orphanet	C3151293;613881;MedGen;612954;ORPHA199340;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs199991063
Clinvar_Rec_14682	rs143749139	Uncertain significance	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not provided	RCV000795030;RCV000595509	MedGen;OMIM;Orphanet	C2750786;613204;ORPHA34520;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs143749139
Clinvar_Rec_14683	rs56821304	Pathogenic	Beaded hair;not provided	RCV000007931;RCV000056951	MedGen;OMIM;Orphanet;SNOMED CT	C0546966;158000;ORPHA573;69488000;MedGen	no assertion criteria provided	tagSNP	rs56821304
Clinvar_Rec_14684	rs141441003	Uncertain significance	Lig4 syndrome;not specified	RCV000702296;RCV000503887	MedGen;OMIM;Orphanet	C1847827;606593;ORPHA99812;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs141441003
Clinvar_Rec_14685	rs121908001	Likely pathogenic	Wilson disease	RCV000004070	MedGen;OMIM;Orphanet;SNOMED CT	C0019202;277900;ORPHA905;88518009	criteria provided, single submitter	tagSNP	rs121908001
Clinvar_Rec_14686	rs746195311	Uncertain significance	Bloom syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000673383;RCV001014270;RCV000171242	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0005859;210900;ORPHA125;4434006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs746195311
Clinvar_Rec_14687	rs571063157	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000200032;RCV000130900;RCV000483902;RCV001030168	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs571063157
Clinvar_Rec_14688	rs397515033	not provided	Tuberous sclerosis syndrome	RCV000055256	MedGen;Orphanet;SNOMED CT	C0041341;ORPHA805;7199000	no assertion provided	tagSNP	rs397515033
Clinvar_Rec_14689	rs397515033	Uncertain significance	Tuberous sclerosis 2	RCV000234433	MedGen;OMIM	C1860707;613254	criteria provided, single submitter	tagSNP	rs397515033
Clinvar_Rec_14690	rs398123053	Pathogenic	Retinitis pigmentosa 82 with or without situs inversus	RCV000055665	MedGen;OMIM	C3809503;615434	no assertion criteria provided	tagSNP	rs398123053
Clinvar_Rec_14691	rs189656772	Uncertain significance	Autism spectrum disorder	RCV000719456	MedGen;Orphanet	C1510586;ORPHA106	criteria provided, single submitter	tagSNP	rs189656772
Clinvar_Rec_14692	rs587778586	Conflicting interpretations of pathogenicity	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000195647;RCV000561765;RCV000588075;RCV000121757	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs587778586
Clinvar_Rec_14693	rs372221218	Uncertain significance	Charcot-Marie-Tooth disease, type 2	RCV000653923	MedGen;Orphanet	C0270914;ORPHA64746	criteria provided, multiple submitters, no conflicts	tagSNP	rs372221218
Clinvar_Rec_14694	rs747607776	Likely benign	Immunodeficiency 8	RCV000651710	MedGen;OMIM;Orphanet	C3809383;615401;ORPHA228003	criteria provided, single submitter	tagSNP	rs747607776
Clinvar_Rec_14695	rs376017665	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001024065;RCV000644386	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs376017665
Clinvar_Rec_14696	rs886041772	Pathogenic	Tuberous sclerosis 2;not provided	RCV001042530;RCV000267161	MedGen;OMIM	C1860707;613254;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs886041772
Clinvar_Rec_14697	rs45487491	Likely benign	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000206372;RCV000163571;RCV000587304	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs45487491
Clinvar_Rec_14698	rs146039551	Likely benign	Epileptic encephalopathy	RCV000637263	Human Phenotype Ontology;MedGen	HP;C0543888	criteria provided, single submitter	LD derived	rs576100145
Clinvar_Rec_14699	rs786202534	Uncertain significance	Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided	RCV000206269;RCV000165383;RCV000587834	MeSH;MedGen;Orphanet;Orphanet;SNOMED CT	D061325;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs786202534
Clinvar_Rec_14700	rs786202534	Pathogenic	Breast-ovarian cancer, familial 1	RCV000256809	MedGen;OMIM	C2676676;604370	reviewed by expert panel	tagSNP	rs786202534
Clinvar_Rec_14701	rs587784267	Pathogenic	Lissencephaly due to LIS1 mutation;not provided	RCV000147038;RCV000255123	MedGen;OMIM;Orphanet	C0431375;607432;ORPHA95232;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs587784267
Clinvar_Rec_14702	rs80357772	Pathogenic	Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided	RCV000077636;RCV000049211;RCV000162892;RCV000240695;RCV000657804	MedGen;OMIM;MedGen;Orphanet;Orphanet;SNOMED CT;MeSH;MedGen;Orphanet;SNOMED CT	C2676676;604370;MeSH;C0677776;ORPHA145;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;D001943;C1458155;ORPHA180250;126926005;MedGen	reviewed by expert panel	tagSNP	rs80357772
Clinvar_Rec_14703	rs767301100	Likely benign	Intellectual disability	RCV000681503	Human Phenotype Ontology;MedGen	HP;C1843367	criteria provided, single submitter	tagSNP	rs767301100
Clinvar_Rec_14704	rs1057519801	Likely pathogenic	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	RCV000430787	MedGen	C0279763	no assertion criteria provided	tagSNP	rs1057519801
Clinvar_Rec_14705	rs761205319	Uncertain significance	Familial Atypical Mycobacteriosis, Autosomal Recessive	RCV000321160	MedGen	CN239257	criteria provided, single submitter	tagSNP	rs761205319
Clinvar_Rec_14706	rs200990725	Conflicting interpretations of pathogenicity	Familial hypercholesterolemia;Familial hypercholesterolemia 1;not provided	RCV000775048;RCV000237953;RCV000845535	MedGen;SNOMED CT;OMIM;SNOMED CT	C0020445;398036000;MedGen;143890;397915002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200990725
Clinvar_Rec_14707	rs368422028	Likely benign	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000538133;RCV000538133	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs368422028
Clinvar_Rec_14708	rs201586695	Uncertain significance	Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J	RCV000557256;RCV000557256	MedGen;OMIM;OMIM;Orphanet	C1858763;604145;MedGen;608807;ORPHA140922	criteria provided, single submitter	tagSNP	rs201586695
Clinvar_Rec_14709	rs553821887	Uncertain significance	Primary dilated cardiomyopathy	RCV000209760	EFO;Human Phenotype Ontology;MedGen;Orphanet;SNOMED CT	EFO_0000407;HP;C0007193;ORPHA217604;195021004	criteria provided, single submitter	tagSNP	rs553821887
Clinvar_Rec_14710	rs200644872	Conflicting interpretations of pathogenicity	Autosomal dominant nocturnal frontal lobe epilepsy;not provided	RCV000699707;RCV000224905	MedGen;Orphanet	C3696898;ORPHA98784;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200644872
Clinvar_Rec_14711	rs768672949	Uncertain significance	Cardiovascular phenotype	RCV000621367	MedGen	CN230736	criteria provided, single submitter	tagSNP	rs768672949
Clinvar_Rec_14712	rs746339542	Uncertain significance	Collagen VI-related myopathy;Myosclerosis	RCV000390038;RCV000312456	MedGen;Orphanet	CN117976;MedGen;ORPHA289380	criteria provided, single submitter	tagSNP	rs746339542
Clinvar_Rec_14713	rs559935317	Likely benign	Seizures;not provided	RCV000716336;RCV000548724	Human Phenotype Ontology;MedGen	HP;C0036572;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs370189053
Clinvar_Rec_14714	rs147554210	Uncertain significance	Immunodeficiency 51	RCV000653444	MedGen;OMIM	C4310803;613953	criteria provided, single submitter	tagSNP	rs147554210
Clinvar_Rec_14715	rs150419186	Pathogenic	Noonan syndrome 2;not provided	RCV000735431;RCV000760481	MedGen;OMIM	C1854469;605275;MedGen	criteria provided, single submitter	tagSNP	rs150419186
Clinvar_Rec_14716	rs373073383	Uncertain significance	Familial cancer of breast;Hereditary cancer-predisposing syndrome;not provided	RCV000206654;RCV000129508;RCV000589481	MedGen;OMIM;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0006142;114480;ORPHA227535;254843006;MedGen;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs373073383
Clinvar_Rec_14717	rs118163237	Conflicting interpretations of pathogenicity	Deficiency of beta-ureidopropionase;not provided	RCV000490512;RCV000514134	MedGen;OMIM;Orphanet;SNOMED CT	C1291512;613161;ORPHA65287;124511000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs118163237
Clinvar_Rec_14718	rs200118565	Conflicting interpretations of pathogenicity	Fanconi anemia;not provided	RCV000398928;RCV000863693	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002;MedGen	criteria provided, conflicting interpretations	tagSNP	rs200118565
Clinvar_Rec_14719	rs200118565	Conflicting interpretations of pathogenicity	Fanconi anemia	RCV000314260	MedGen;Orphanet;SNOMED CT	C0015625;ORPHA84;30575002	criteria provided, conflicting interpretations	tagSNP	rs200118565
Clinvar_Rec_14720	rs146247493	Likely benign	4p partial monosomy syndrome	RCV000354039	MedGen;OMIM;Orphanet;SNOMED CT	C1956097;194190;ORPHA280;17122004	criteria provided, single submitter	LD derived	rs184511643
Clinvar_Rec_14721	rs797044451	Pathogenic	Capillary malformation-arteriovenous malformation 1;not provided	RCV000017370;RCV000200157	MedGen;OMIM	C4747394;608354;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs797044451
Clinvar_Rec_14722	rs773125634	Uncertain significance	Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome	RCV000646346;RCV000221440	MedGen;OMIM;Orphanet;SNOMED CT	C2713442;175100;MedGen;ORPHA140162;699346009	criteria provided, multiple submitters, no conflicts	tagSNP	rs773125634
Clinvar_Rec_14723	rs751361395	Uncertain significance	Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa simplex due to plakophilin deficiency;Skin fragility-woolly hair-palmoplantar keratoderma syndrome;not provided	RCV000379457;RCV000470079;RCV000470079;RCV000366711;RCV000322535;RCV000485378	MedGen;Orphanet;SNOMED CT;SNOMED CT;OMIM;OMIM;Orphanet;OMIM;Orphanet;OMIM;Orphanet	C0349788;ORPHA247;253528005;281170005;MedGen;607450;MedGen;605676;ORPHA65282;MedGen;604536;ORPHA158668;MedGen;607655;ORPHA293165;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs751361395
Clinvar_Rec_14724	rs146982427	Likely benign	History of neurodevelopmental disorder	RCV000717589	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs146982427
Clinvar_Rec_14725	rs533990759	Likely benign	History of neurodevelopmental disorder	RCV000716020	MedGen	C2711754	criteria provided, single submitter	tagSNP	rs533990759
Clinvar_Rec_14726	rs1428029508	Uncertain significance	Argininosuccinate lyase deficiency	RCV000668596	MedGen;OMIM;Orphanet;SNOMED CT	C0268547;207900;ORPHA23;41013004	criteria provided, single submitter	tagSNP	rs1428029508
Clinvar_Rec_14727	rs115234947	Benign	Idiopathic basal ganglia calcification 1;not provided	RCV000370512;RCV000860884	MedGen;OMIM;SNOMED CT	C4551624;213600;110997000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs115234947
Clinvar_Rec_14728	rs115234947	Benign	Idiopathic basal ganglia calcification 1;not provided	RCV000366935;RCV000860885	MedGen;OMIM;SNOMED CT	C4551624;213600;110997000;MedGen	criteria provided, multiple submitters, no conflicts	LD derived	rs116359869
Clinvar_Rec_14729	rs201867031	Conflicting interpretations of pathogenicity	Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided	RCV000274136;RCV000572666;RCV000331374;RCV000034611	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs201867031
Clinvar_Rec_14730	rs118203609	Benign/Likely benign	Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000570911;RCV000042113;RCV000469663;RCV001002541	MedGen;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118203609
Clinvar_Rec_14731	rs772211736	Uncertain significance	Ehlers-Danlos syndrome, classic type	RCV000459576	MedGen;OMIM;Orphanet;SNOMED CT;SNOMED CT	C4552122;130000;ORPHA287;20766005;83470009	criteria provided, single submitter	tagSNP	rs772211736
Clinvar_Rec_14732	rs118203608	Benign/Likely benign	Hereditary cancer-predisposing syndrome;not provided;not specified	RCV000571403;RCV000756826;RCV000602570	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs118203608
Clinvar_Rec_14733	rs118203608	Conflicting interpretations of pathogenicity	Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided	RCV001056632;RCV000042112;RCV000841758	MedGen;OMIM;Orphanet;SNOMED CT	C1854465;191100;MedGen;ORPHA805;7199000;MedGen	criteria provided, conflicting interpretations	tagSNP	rs118203608
Clinvar_Rec_14734	rs867319477	Pathogenic/Likely pathogenic	Fanconi anemia;Fanconi anemia, complementation group C;not provided	RCV001059596;RCV000409524;RCV000657699	MedGen;Orphanet;SNOMED CT;OMIM	C0015625;ORPHA84;30575002;MedGen;227645;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs867319477
Clinvar_Rec_14735	rs104886457	Pathogenic/Likely pathogenic	Fanconi anemia;Fanconi anemia, complementation group C;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome;Tracheoesophageal fistula;not provided	RCV000205197;RCV000012827;RCV000515355;RCV000572840;RCV000515355;RCV000058924	MedGen;Orphanet;SNOMED CT;OMIM;OMIM;Orphanet;SNOMED CT;MedGen;OMIM	C0015625;ORPHA84;30575002;MedGen;227645;MedGen;227645;MedGen;ORPHA140162;699346009;Human Phenotype Ontology;C1861028;189960;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs104886457
Clinvar_Rec_14736	rs751126355	Conflicting interpretations of pathogenicity	Hereditary cancer-predisposing syndrome;not provided	RCV001020253;RCV000460787	MedGen;Orphanet;SNOMED CT	C0027672;ORPHA140162;699346009;MedGen	criteria provided, conflicting interpretations	tagSNP	rs751126355
Clinvar_Rec_14737	rs140352085	Benign/Likely benign	Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis syndrome;not provided;not specified	RCV000318765;RCV000163800;RCV000375592;RCV000234154;RCV000176365	MedGen;OMIM;Orphanet;Orphanet;SNOMED CT;Orphanet;SNOMED CT	C1846385;607341;ORPHA268994;MedGen;ORPHA140162;699346009;MedGen;ORPHA805;7199000;MedGen	criteria provided, multiple submitters, no conflicts	tagSNP	rs140352085
Clinvar_Rec_14738	rs1459702445	Uncertain significance	Oculofaciocardiodental syndrome	RCV000640954	MedGen;OMIM;Orphanet	C1846265;300166;ORPHA2712	criteria provided, single submitter	tagSNP	rs1459702445
Clinvar_Rec_14739	rs1057518699	Likely pathogenic	Global developmental delay	RCV000415340	Human Phenotype Ontology;MedGen	HP;C0557874	no assertion criteria provided	tagSNP	rs1057518699