Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	SNV Germline	ChrX:154837677	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255007	rs_137852354	4 SubmittersRCV000010797
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)	SNV Germline	ChrX:154861759	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter	CA255009	rs_137852355	2 SubmittersRCV000010798 RCV003656621
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	SNV Germline	ChrX:154896103	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255011	rs_137852356	3 SubmittersRCV000010800 RCV002284167
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)	SNV Germline	ChrX:154863161	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255013	rs_137852357	2 SubmittersRCV000010808
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)	SNV Germline	ChrX:154861758	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255016	rs_137852358	3 SubmittersRCV000010810 RCV000852189
NM_000132.4(F8):c.872A>G (p.Glu291Gly)	SNV Germline	ChrX:154969468	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255017	rs_137852359	1 SubmittersRCV000010811
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)	SNV Germline	ChrX:154837676	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255018	rs_137852360	2 SubmittersRCV000010821
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)	SNV Germline	ChrX:154904025	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255019	rs_28937294	3 SubmittersRCV000010822 RCV000756109
NM_000132.4(F8):c.1172G>A (p.Arg391His)	SNV Germline	ChrX:154966525	Pathogenic	FACTOR VIII (OKAYAMA) Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA120918	rs_28935499	4 SubmittersRCV000010823 RCV000757254 RCV000852002
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)	SNV Germline	ChrX:154928677	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255020	rs_137852361	1 SubmittersRCV000010824
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)	SNV Germline	ChrX:154928668	Pathogenic	Hereditary factor VIII deficiency disease FACTOR VIII (EAST HARTFORD) Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA120919	rs_111033613	7 SubmittersRCV000010826 RCV000010827 RCV001092277
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	SNV Germline	ChrX:154928694	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255022	rs_28935203	5 SubmittersRCV000010828 RCV002508187
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys)	SNV Germline	ChrX:154928607	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255023	rs_137852362	1 SubmittersRCV000010829
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)	SNV Germline	ChrX:154904026	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255024	rs_137852363	2 SubmittersRCV000010831
NM_000132.4(F8):c.1171C>T (p.Arg391Cys)	SNV Germline	ChrX:154966526	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255026	rs_137852364	2 SubmittersRCV000010838
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)	SNV Germline	ChrX:154837676	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255027	rs_137852360	5 SubmittersRCV000010839 RCV000851861 RCV001169905
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser)	SNV Germline	ChrX:154863103	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255028	rs_137852365	1 SubmittersRCV000010840
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro)	SNV Germline	ChrX:154896102	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255029	rs_137852366	1 SubmittersRCV000010841
NM_000132.4(F8):c.566C>T (p.Ser189Leu)	SNV Germline	ChrX:154992971	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter	CA255030	rs_137852367	2 SubmittersRCV000010842 RCV003480026
NM_000132.4(F8):c.1063C>T (p.Arg355Ter)	SNV Germline	ChrX:154966634	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255031	rs_137852368	4 SubmittersRCV000010852
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)	SNV Germline	ChrX:154904083	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255033	rs_137852369	1 SubmittersRCV000010853
NM_000132.4(F8):c.985T>C (p.Cys329Arg)	SNV Germline	ChrX:154969355	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255034	rs_387906430	1 SubmittersRCV000010854
NM_000132.4(F8):c.1033G>T (p.Val345Leu)	SNV Germline	ChrX:154966664	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255036	rs_137852371	1 SubmittersRCV000010855
NM_000132.4(F8):c.1336C>T (p.Arg446Ter)	SNV Germline	ChrX:154966077	Pathogenic	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Single Submitter	CA255038	rs_137852372	2 SubmittersRCV000010858 RCV002247316
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)	SNV Germline	ChrX:154928623	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255040	rs_137852373	1 SubmittersRCV000010859
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)	SNV Germline	ChrX:154837698	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255041	rs_137852374	1 SubmittersRCV000010860
NM_000132.4(F8):c.5372T>C (p.Met1791Thr)	SNV Germline	ChrX:154906421	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255042	rs_137852375	1 SubmittersRCV000010861
NM_000132.4(F8):c.1754T>C (p.Ile585Thr)	SNV Germline	ChrX:154954041	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255043	rs_137852376	1 SubmittersRCV000010862
NM_000132.4(F8):c.43C>T (p.Arg15Ter)	SNV Germline	ChrX:155022510	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255044	rs_387906432	4 SubmittersRCV000010865 RCV003114181
NM_000132.4(F8):c.77T>G (p.Leu26Arg)	SNV Germline	ChrX:155022476	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255046	rs_137852377	1 SubmittersRCV000010866
NM_000132.4(F8):c.89A>T (p.Glu30Val)	SNV Germline	ChrX:155022464	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255047	rs_137852378	1 SubmittersRCV000010867
NM_000132.4(F8):c.121G>T (p.Gly41Cys)	SNV Germline	ChrX:155022432	Pathogenic	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Single Submitter	CA255048	rs_137852379	2 SubmittersRCV000010869 RCV002247317
NM_000132.4(F8):c.602-2A>G	SNV Germline	ChrX:154987307	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2124134457	1 SubmittersRCV000010875
NM_000132.4(F8):c.266G>A (p.Gly89Asp)	SNV Germline	ChrX:154997095	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255052	rs_137852380	1 SubmittersRCV000010876
NM_000132.4(F8):c.275G>T (p.Gly92Val)	SNV Germline	ChrX:154997086	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255053	rs_137852381	1 SubmittersRCV000010877
NM_000132.4(F8):c.296T>A (p.Val99Asp)	SNV Germline	ChrX:154997065	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255054	rs_137852382	1 SubmittersRCV000010878
NM_000132.4(F8):c.311T>A (p.Val104Asp)	SNV Germline	ChrX:154997050	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255055	rs_137852383	1 SubmittersRCV000010879
NM_000132.4(F8):c.323A>C (p.Lys108Thr)	SNV Germline	ChrX:154997038	Pathogenic	Hereditary factor VIII deficiency disease not specified Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Multiple Submitters No Conflicts	CA255056	rs_137852384	3 SubmittersRCV000010880 RCV000508582 RCV002247318
NM_000132.4(F8):c.328A>G (p.Met110Val)	SNV Germline	ChrX:154997033	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255057	rs_137852385	1 SubmittersRCV000010881
NM_000132.4(F8):c.350T>G (p.Leu117Arg)	SNV Germline	ChrX:154997011	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255058	rs_137852386	1 SubmittersRCV000010882
NM_000132.4(F8):c.388G>C (p.Gly130Arg)	SNV Germline	ChrX:154996973	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255059	rs_137852387	1 SubmittersRCV000010883
NM_000132.4(F8):c.396A>C (p.Glu132Asp)	SNV Germline	ChrX:154993141	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Condition: not provided Hemorrhage Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect F8-related disorder	Criteria Provided Conflicting Classifications	CA255060	rs_137852388	8 SubmittersRCV000010884 RCV001529373 RCV002280860 RCV002496321 RCV002247319 RCV003952352
NM_000132.4(F8):c.398A>G (p.Tyr133Cys)	SNV Germline	ChrX:154993139	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255061	rs_137852389	1 SubmittersRCV000010885
NM_000132.4(F8):c.404A>G (p.Asp135Gly)	SNV Germline	ChrX:154993133	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255062	rs_137852390	1 SubmittersRCV000010886
NM_000132.4(F8):c.410C>T (p.Thr137Ile)	SNV Germline	ChrX:154993127	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255063	rs_137852391	1 SubmittersRCV000010887
NM_000132.4(F8):c.491G>T (p.Gly164Val)	SNV Germline	ChrX:154993046	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255064	rs_137852392	1 SubmittersRCV000010888
NM_000132.4(F8):c.493C>T (p.Pro165Ser)	SNV Germline	ChrX:154993044	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255065	rs_137852393	3 SubmittersRCV000010889 RCV003657257
NM_000132.4(F8):c.541G>A (p.Val181Met)	SNV Germline	ChrX:154992996	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided Hereditary factor IX deficiency disease F8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255066	rs_137852394	6 SubmittersRCV000010890 RCV001701720 RCV000851946 RCV003398478
NM_000132.4(F8):c.554A>C (p.Lys185Thr)	SNV Germline	ChrX:154992983	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255067	rs_137852395	1 SubmittersRCV000010891
NM_000132.4(F8):c.665A>T (p.Asp222Val)	SNV Germline	ChrX:154987242	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255068	rs_137852396	1 SubmittersRCV000010892
NM_000132.4(F8):c.670G>T (p.Gly224Trp)	SNV Germline	ChrX:154987237	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255069	rs_137852397	1 SubmittersRCV000010893
NM_000132.4(F8):c.671-2A>G	SNV Germline	ChrX:154984805	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2124131475	1 SubmittersRCV000010895
NM_000132.4(F8):c.787+3A>G	SNV Germline	ChrX:154984684	Likely pathogenic	Hereditary factor VIII deficiency disease F8-related disorder	Criteria Provided Single Submitter		rs_2073548872	2 SubmittersRCV000010896 RCV003934820
NM_000132.4(F8):c.797G>A (p.Gly266Glu)	SNV Germline	ChrX:154969543	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255071	rs_137852398	2 SubmittersRCV000010898
NM_000132.4(F8):c.822G>A (p.Trp274Ter)	SNV Germline	ChrX:154969518	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255072	rs_34371500	1 SubmittersRCV000010899
NM_000132.4(F8):c.832G>A (p.Gly278Arg)	SNV Germline	ChrX:154969508	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255074	rs_137852399	1 SubmittersRCV000010900
NM_000132.4(F8):c.854T>G (p.Val285Gly)	SNV Germline	ChrX:154969486	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255076	rs_137852400	1 SubmittersRCV000010902
NM_000132.4(F8):c.881C>T (p.Thr294Ile)	SNV Germline	ChrX:154969459	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255077	rs_137852401	1 SubmittersRCV000010903
NM_000132.4(F8):c.896A>T (p.Asn299Ile)	SNV Germline	ChrX:154969444	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255078	rs_137852402	1 SubmittersRCV000010904
NM_000132.4(F8):c.902G>A (p.Arg301His)	SNV Germline	ChrX:154969438	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255079	rs_137852403	3 SubmittersRCV000010905 RCV000255290
NM_000132.4(F8):c.902G>T (p.Arg301Leu)	SNV Germline	ChrX:154969438	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255080	rs_137852403	1 SubmittersRCV000010906
NM_000132.4(F8):c.923C>T (p.Ser308Leu)	SNV Germline	ChrX:154969417	Pathogenic	Hereditary factor VIII deficiency disease F8-related disorder	Reviewed By Expert Panel	CA255082	rs_137852404	3 SubmittersRCV000010908 RCV003415685
NM_000132.4(F8):c.935T>C (p.Phe312Ser)	SNV Germline	ChrX:154969405	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255083	rs_137852405	4 SubmittersRCV000010909 RCV000852250 RCV003656098
NM_000132.4(F8):c.940A>G (p.Thr314Ala)	SNV Germline	ChrX:154969400	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255084	rs_137852406	3 SubmittersRCV000010910 RCV004566717
NM_000132.4(F8):c.980T>C (p.Leu327Pro)	SNV Germline	ChrX:154969360	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255086	rs_137852407	1 SubmittersRCV000010912
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter)	SNV Germline	ChrX:154966671	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255087	rs_137852408	1 SubmittersRCV000010913
NM_000132.4(F8):c.986G>A (p.Cys329Tyr)	SNV Germline	ChrX:154969354	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255089	rs_137852409	2 SubmittersRCV000010914
NM_000132.4(F8):c.1043G>C (p.Cys348Ser)	SNV Germline	ChrX:154966654	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255091	rs_137852410	1 SubmittersRCV000010915
NM_000132.4(F8):c.1175C>A (p.Ser392Ter)	SNV Germline	ChrX:154966522	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255093	rs_28933668	1 SubmittersRCV000010917
NM_000132.4(F8):c.1175C>T (p.Ser392Leu)	SNV Germline	ChrX:154966522	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter	CA255095	rs_28933668	2 SubmittersRCV000010918 RCV003114182
NM_000132.4(F8):c.1174T>C (p.Ser392Pro)	SNV Germline	ChrX:154966523	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255096	rs_28933669	1 SubmittersRCV000010919
NM_000132.4(F8):c.1214T>G (p.Ile405Ser)	SNV Germline	ChrX:154966483	Likely pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255098	rs_28933670	2 SubmittersRCV000010921
NM_000132.4(F8):c.1226A>G (p.Glu409Gly)	SNV Germline	ChrX:154966471	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255099	rs_28933671	1 SubmittersRCV000010922
NM_000132.4(F8):c.1293G>T (p.Leu431Phe)	SNV Germline	ChrX:154966120	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255100	rs_28933672	1 SubmittersRCV000010923
NM_000132.4(F8):c.1331A>G (p.Lys444Arg)	SNV Germline	ChrX:154966082	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255102	rs_28937272	1 SubmittersRCV000010925
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn)	SNV Germline	ChrX:154966065	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255103	rs_111033616	1 SubmittersRCV000010926
NM_000132.4(F8):c.1417T>C (p.Tyr473His)	SNV Germline	ChrX:154965996	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255104	rs_387906443	1 SubmittersRCV000010927
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys)	SNV Germline	ChrX:154965995	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255106	rs_387906444	1 SubmittersRCV000010928
NM_000132.4(F8):c.1481T>C (p.Ile494Thr)	SNV Germline	ChrX:154961131	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255108	rs_137852413	1 SubmittersRCV000010929
NM_000132.4(F8):c.1492G>A (p.Gly498Arg)	SNV Germline	ChrX:154961120	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255109	rs_137852414	3 SubmittersRCV000010930 RCV000851700
NM_000132.4(F8):c.1538-1G>T	SNV Germline	ChrX:154957172	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1414679955	1 SubmittersRCV000010932
NM_000132.4(F8):c.1630G>A (p.Asp544Asn)	SNV Germline	ChrX:154957079	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255111	rs_137852415	1 SubmittersRCV000010934
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	SNV Germline	ChrX:154957073	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255112	rs_137852416	6 SubmittersRCV000010935 RCV000852048 RCV003103711
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)	SNV Germline	ChrX:154957061	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255113	rs_137852417	1 SubmittersRCV000010936
NM_000132.4(F8):c.1648C>G (p.Arg550Gly)	SNV Germline	ChrX:154957061	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter	CA255114	rs_137852417	2 SubmittersRCV000010937 RCV000757245
NM_000132.4(F8):c.1649G>A (p.Arg550His)	SNV Germline	ChrX:154957060	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Reviewed By Expert Panel	CA255115	rs_137852418	4 SubmittersRCV000010938 RCV003656622
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)	SNV Germline	ChrX:154957049	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided F8-related disorder	Reviewed By Expert Panel	CA255116	rs_137852419	7 SubmittersRCV000010939 RCV000727106 RCV003934821
NM_000132.4(F8):c.1682A>G (p.Asp561Gly)	SNV Germline	ChrX:154957027	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255117	rs_137852420	1 SubmittersRCV000010940
NM_000132.4(F8):c.1726G>T (p.Glu576Ter)	SNV Germline	ChrX:154956983	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255118	rs_137852421	1 SubmittersRCV000010941
NM_000132.4(F8):c.1730C>T (p.Ser577Phe)	SNV Germline	ChrX:154956979	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255120	rs_28937282	1 SubmittersRCV000010942
NM_000132.4(F8):c.1750C>A (p.Gln584Lys)	SNV Germline	ChrX:154956959	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255121	rs_137852422	1 SubmittersRCV000010943
NM_000132.4(F8):c.1729T>C (p.Ser577Pro)	SNV Germline	ChrX:154956980	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255122	rs_387906446	1 SubmittersRCV000010944
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)	SNV Germline	ChrX:154953991	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Reviewed By Expert Panel	CA255124	rs_137852424	5 SubmittersRCV000010945 RCV000852054
NM_000132.4(F8):c.1808G>T (p.Ser603Ile)	SNV Germline	ChrX:154953987	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255126	rs_137852425	1 SubmittersRCV000010946
NM_000132.4(F8):c.1812G>C (p.Trp604Cys)	SNV Germline	ChrX:154953983	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255127	rs_137852426	1 SubmittersRCV000010947
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser)	SNV Germline	ChrX:154953981	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255128	rs_137852427	1 SubmittersRCV000010948
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	SNV Germline	ChrX:154953961	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 8 defect Familial aortopathy	Reviewed By Expert Panel	CA255129	rs_137852428	10 SubmittersRCV000010949 RCV000413577 RCV000851933 RCV002247320 RCV004540992
NM_000132.4(F8):c.1892A>G (p.Asn631Ser)	SNV Germline	ChrX:154953903	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255130	rs_137852429	1 SubmittersRCV000010950
NM_000132.4(F8):c.1903+5G>A	SNV Germline	ChrX:154953887	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2124090120	1 SubmittersRCV000010951
NM_000132.4(F8):c.1958T>C (p.Val653Ala)	SNV Germline	ChrX:154947853	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255131	rs_137852430	1 SubmittersRCV000010952
NM_000132.4(F8):c.1957G>A (p.Val653Met)	SNV Germline	ChrX:154947854	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255132	rs_137852431	1 SubmittersRCV000010953
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter)	SNV Germline	ChrX:154947846	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255133	rs_137852432	1 SubmittersRCV000010954
NM_000132.4(F8):c.1988C>T (p.Ala663Val)	SNV Germline	ChrX:154947823	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255135	rs_137852433	1 SubmittersRCV000010955
NM_000132.4(F8):c.2029T>C (p.Phe677Leu)	SNV Germline	ChrX:154947782	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255136	rs_137852434	1 SubmittersRCV000010957
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	SNV Germline	ChrX:154931641	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Abnormality of coagulation Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Condition: not provided	Criteria Provided Conflicting Classifications	CA255137	rs_137852435	9 SubmittersRCV000010958 RCV000851590 RCV000851937 RCV002247321 RCV002490350 RCV002281701
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	SNV Germline	ChrX:154931623	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Multiple Submitters No Conflicts	CA255138	rs_137852436	7 SubmittersRCV000010959 RCV000852072 RCV001560529 RCV002490351
NM_000132.4(F8):c.2215G>A (p.Glu739Lys)	SNV Germline	ChrX:154931575	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255139	rs_28937285	2 SubmittersRCV000010960
NM_000132.4(F8):c.2383A>T (p.Arg795Ter)	SNV Germline	ChrX:154931407	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255140	rs_2228152	1 SubmittersRCV000010961
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	SNV Germline	ChrX:154930621	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease not specified Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Conflicting Classifications	CA255144	rs_28933673	7 SubmittersRCV000010964 RCV000601703 RCV002247322
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter)	SNV Germline	ChrX:154928890	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_137852438	1 SubmittersRCV000010978
NM_000132.4(F8):c.5123G>A (p.Arg1708His)	SNV Germline	ChrX:154928667	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Abnormality of coagulation Condition: not provided F8-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255154	rs_111033614	7 SubmittersRCV000010979 RCV000851813 RCV001091839 RCV003914826
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)	SNV Germline	ChrX:154928647	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255155	rs_137852439	3 SubmittersRCV000010980
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)	SNV Germline	ChrX:154928647	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter	CA255157	rs_137852439	2 SubmittersRCV000010981 RCV003114183
NM_000132.4(F8):c.5220-2A>G	SNV Germline	ChrX:154906575	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073039685	1 SubmittersRCV000010982
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg)	SNV Germline	ChrX:154906488	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255158	rs_137852440	1 SubmittersRCV000010983
NM_000132.4(F8):c.5323T>G (p.Leu1775Val)	SNV Germline	ChrX:154906470	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255159	rs_28937287	1 SubmittersRCV000010984
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe)	SNV Germline	ChrX:154906468	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255160	rs_137852441	1 SubmittersRCV000010985
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu)	SNV Germline	ChrX:154906457	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255161	rs_28937289	1 SubmittersRCV000010986
NM_000132.4(F8):c.5399G>A (p.Arg1800His)	SNV Germline	ChrX:154904998	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided F8-related disorder	Reviewed By Expert Panel	CA255162	rs_137852442	7 SubmittersRCV000010987 RCV001552643 RCV003430635
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys)	SNV Germline	ChrX:154904999	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255163	rs_137852443	1 SubmittersRCV000010988
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly)	SNV Germline	ChrX:154904999	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255164	rs_137852443	1 SubmittersRCV000010989
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr)	SNV Germline	ChrX:154904989	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255165	rs_137852444	1 SubmittersRCV000010990
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)	SNV Germline	ChrX:154904975	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255166	rs_137852445	2 SubmittersRCV000010991
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter)	SNV Germline	ChrX:154904954	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255167	rs_137852446	1 SubmittersRCV000010992
NM_000132.4(F8):c.5526G>A (p.Met1842Ile)	SNV Germline	ChrX:154904871	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255169	rs_28933674	1 SubmittersRCV000010993
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)	SNV Germline	ChrX:154904867	Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Criteria Provided Single Submitter	CA255170	rs_28933675	2 SubmittersRCV000010994 RCV000851817
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)	SNV Germline	ChrX:154904864	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255171	rs_28933676	1 SubmittersRCV000010995
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)	SNV Germline	ChrX:154904918	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255172	rs_387906457	1 SubmittersRCV000010996
NM_000132.4(F8):c.5558C>T (p.Ala1853Val)	SNV Germline	ChrX:154904839	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255174	rs_28933677	1 SubmittersRCV000010997
NM_000132.4(F8):c.5586G>A (p.Leu1862=)	SNV Germline	ChrX:154904811	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2123997676	1 SubmittersRCV000010998
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)	SNV Germline	ChrX:154904518	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255175	rs_28933678	1 SubmittersRCV000010999
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr)	SNV Germline	ChrX:154904518	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255176	rs_28933678	1 SubmittersRCV000011000
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg)	SNV Germline	ChrX:154904493	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255178	rs_28933680	1 SubmittersRCV000011002
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)	SNV Germline	ChrX:154904434	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255180	rs_137852448	1 SubmittersRCV000011004
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys)	SNV Germline	ChrX:154904401	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255182	rs_28933681	1 SubmittersRCV000011005
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)	SNV Germline	ChrX:154904082	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255184	rs_28933682	5 SubmittersRCV000011007
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu)	SNV Germline	ChrX:154904025	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255185	rs_28937294	1 SubmittersRCV000011008
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)	SNV Germline	ChrX:154904022	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255186	rs_137852449	1 SubmittersRCV000011009
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp)	SNV Germline	ChrX:154904004	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255188	rs_111033615	1 SubmittersRCV000011010
NM_000132.4(F8):c.5936G>T (p.Gly1979Val)	SNV Germline	ChrX:154903968	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255189	rs_137852450	1 SubmittersRCV000011011
NM_000132.4(F8):c.5938C>T (p.His1980Tyr)	SNV Germline	ChrX:154903966	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255190	rs_137852451	1 SubmittersRCV000011012
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)	SNV Germline	ChrX:154903951	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255191	rs_137852452	2 SubmittersRCV000011013
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter)	SNV Germline	ChrX:154902150	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255195	rs_267606791	1 SubmittersRCV000011016
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	SNV Germline	ChrX:154902120	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA255197	rs_137852453	5 SubmittersRCV000011017
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser)	SNV Germline	ChrX:154902053	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255198	rs_137852454	1 SubmittersRCV000011018
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg)	SNV Germline	ChrX:154899946	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255199	rs_137852455	1 SubmittersRCV000011019
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe)	SNV Germline	ChrX:154899876	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255200	rs_137852456	1 SubmittersRCV000011020
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly)	SNV Germline	ChrX:154896228	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255201	rs_137852457	1 SubmittersRCV000011021
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu)	SNV Germline	ChrX:154896146	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255202	rs_137852458	1 SubmittersRCV000011022
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)	SNV Germline	ChrX:154896135	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255203	rs_137852459	4 SubmittersRCV000011023 RCV001508071
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr)	SNV Germline	ChrX:154896093	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255204	rs_137852460	1 SubmittersRCV000011024
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)	SNV Germline	ChrX:154863124	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255207	rs_137852465	2 SubmittersRCV000011027
NM_000132.4(F8):c.6506G>A (p.Arg2169His)	SNV Germline	ChrX:154863151	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255208	rs_137852461	6 SubmittersRCV000011028 RCV000851846 RCV003147281
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln)	SNV Germline	ChrX:154863142	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255209	rs_137852462	1 SubmittersRCV000011029
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)	SNV Germline	ChrX:154863139	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255210	rs_137852463	1 SubmittersRCV000011030
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)	SNV Germline	ChrX:154863125	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255211	rs_137852464	5 SubmittersRCV000011031 RCV003103985
NM_000132.4(F8):c.6533G>A (p.Arg2178His)	SNV Germline	ChrX:154863124	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255212	rs_137852465	4 SubmittersRCV000011032 RCV000852179 RCV003114184
NM_000132.4(F8):c.6545G>A (p.Arg2182His)	SNV Germline	ChrX:154863112	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255213	rs_137852466	4 SubmittersRCV000011033
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	SNV Germline	ChrX:154863113	Pathogenic	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Multiple Submitters No Conflicts	CA255214	rs_137852467	3 SubmittersRCV000011034 RCV002247323
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro)	SNV Germline	ChrX:154861810	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255215	rs_137852468	1 SubmittersRCV000011035
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu)	SNV Germline	ChrX:154861758	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA340964	rs_137852358	1 SubmittersRCV000011037
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly)	SNV Germline	ChrX:154861759	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255216	rs_137852355	1 SubmittersRCV000011038
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)	SNV Germline	ChrX:154860588	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Reviewed By Expert Panel	CA255218	rs_137852469	4 SubmittersRCV000011040 RCV000851849 RCV003114185
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)	SNV Germline	ChrX:154860538	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	No Assertion Criteria Provided	CA255219	rs_137852470	3 SubmittersRCV000011041 RCV001701638
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter)	SNV Germline	ChrX:154860467	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255221	rs_137852471	1 SubmittersRCV000011043
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)	SNV Germline	ChrX:154837697	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255224	rs_137852472	5 SubmittersRCV000011045 RCV000851613 RCV001701721
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)	SNV Germline	ChrX:154837686	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255225	rs_137852473	4 SubmittersRCV000011046
NM_000132.4(F8):c.6968G>A (p.Arg2323His)	SNV Germline	ChrX:154837685	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255226	rs_137852474	1 SubmittersRCV000011047
NM_000132.4(F8):c.592T>G (p.Cys198Gly)	SNV Germline	ChrX:154992945	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA255227	rs_137852475	2 SubmittersRCV000011064
NM_000132.4(F8):c.104A>G (p.Tyr35Cys)	SNV Germline	ChrX:155022449	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided	CA255228	rs_137852476	1 SubmittersRCV000011065
NM_000133.4(F9):c.224G>A (p.Arg75Gln)	SNV Germline	ChrX:139537145	Pathogenic/Likely pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease Condition: not provided Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease Warfarin sensitivity, X-linked Thrombophilia, X-linked, due to factor 9 defect	Criteria Provided Multiple Submitters No Conflicts	CA255318	rs_137852228	7 SubmittersRCV000011319 RCV000852079 RCV000757260 RCV001851790 RCV002490353
NM_000133.4(F9):c.572G>A (p.Arg191His)	SNV Germline	ChrX:139551113	Pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Condition: not provided	Reviewed By Expert Panel	CA255342	rs_137852238	8 SubmittersRCV000011331 RCV000851602 RCV001390296 RCV002247326 RCV002284168
NM_000133.4(F9):c.881G>A (p.Arg294Gln)	SNV Germline	ChrX:139561566	Pathogenic	Hereditary factor IX deficiency disease Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255368	rs_137852249	9 SubmittersRCV000011348 RCV000814168 RCV000851909
NM_000133.4(F9):c.1025C>T (p.Thr342Met)	SNV Germline	ChrX:139561710	Pathogenic	Hereditary factor IX deficiency disease Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor VIII deficiency disease Condition: not provided	Reviewed By Expert Panel	CA255381	rs_137852254	10 SubmittersRCV000011353 RCV000792734 RCV000851963 RCV001810849
NM_000133.4(F9):c.1069G>A (p.Gly357Arg)	SNV Germline	ChrX:139561754	Pathogenic/Likely pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts	CA255389	rs_137852257	3 SubmittersRCV000011357 RCV000851648
NM_000133.4(F9):c.1136G>A (p.Arg379Gln)	SNV Germline	ChrX:139561821	Pathogenic	Hereditary factor IX deficiency disease not specified Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect	Criteria Provided Multiple Submitters No Conflicts	CA255394	rs_137852259	5 SubmittersRCV000011359 RCV001000156 RCV000851995 RCV001851792
NM_000133.4(F9):c.835G>A (p.Ala279Thr)	SNV Germline	ChrX:139560852	Pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease Abnormality of coagulation Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease Condition: not provided	Reviewed By Expert Panel	CA277507	rs_137852247	8 SubmittersRCV000197147 RCV000851896 RCV000851897 RCV001378167 RCV001781582
NM_000132.4(F8):c.6724G>A (p.Val2242Met)	SNV Germline	ChrX:154860608	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications	CA10567761	rs_782654096	2 SubmittersRCV000490278
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	SNV Germline	ChrX:154861818	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease See cases F8-related disorder	Criteria Provided Conflicting Classifications	CA10567784	rs_782198570	4 SubmittersRCV000403190 RCV002252106 RCV003392221
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)	SNV Germline	ChrX:154930646	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter	CA16609557	rs_1060499784	1 SubmittersRCV000454124
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	SNV Germline	ChrX:154902077	Pathogenic/Likely pathogenic	Hereditary factor IX deficiency disease Inborn genetic diseases Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10567911	rs_369414658	8 SubmittersRCV000851606 RCV001267618 RCV001803794 RCV002248743 RCV002476015 RCV003103799
NM_000132.4(F8):c.1569G>T (p.Leu523=)	SNV Germline	ChrX:154957140	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10568430	rs_782733685	5 SubmittersRCV003147490 RCV003103798
NM_000132.4(F8):c.599A>G (p.Glu200Gly)	SNV Germline	ChrX:154992938	Pathogenic	Condition: not provided Abnormality of coagulation Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA10568575	rs_782158761	4 SubmittersRCV000519065 RCV000851605 RCV003403227
NM_000132.4(F8):c.1748A>G (p.Asn583Ser)	SNV Germline	ChrX:154956961	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications	CA10568415	rs_782657516	2 SubmittersRCV000578443
NM_000132.4(F8):c.2044G>T (p.Val682Phe)	SNV Germline	ChrX:154947767	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1569559755	1 SubmittersRCV000723273
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	SNV Germline	ChrX:154903950	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1490417405	6 SubmittersRCV000756107 RCV000852168 RCV001700302
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	SNV Germline	ChrX:154966603	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided not specified	Reviewed By Expert Panel		rs_375241473	7 SubmittersRCV001093532 RCV000851582 RCV003103835 RCV003489854
NM_000133.4(F9):c.88G>C (p.Val30Leu)	SNV Unknown	ChrX:139530852	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603263395	1 SubmittersRCV000852238
NM_000133.4(F9):c.407T>C (p.Ile136Thr)	SNV Unknown	ChrX:139548378	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603265481	1 SubmittersRCV000851938
NM_000133.4(F9):c.757G>A (p.Gly253Arg)	SNV Unknown	ChrX:139560774	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603267181	1 SubmittersRCV000851869
NM_000133.4(F9):c.802T>A (p.Cys268Ser)	SNV Unknown	ChrX:139560819	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603267194	1 SubmittersRCV000851893
NM_000133.4(F9):c.845A>G (p.His282Arg)	SNV Unknown	ChrX:139561530	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_753654616	1 SubmittersRCV000851898
NM_000133.4(F9):c.1009G>A (p.Ala337Thr)	SNV Germline	ChrX:139561694	Pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease	Reviewed By Expert Panel		rs_137852253	2 SubmittersRCV000851629 RCV004577530
NM_000133.4(F9):c.1106T>C (p.Leu369Pro)	SNV Germline	ChrX:139561791	Likely pathogenic	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603267393	2 SubmittersRCV000851659 RCV001378168
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)	SNV Germline	ChrX:139562030	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Condition: not provided Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect not specified	Criteria Provided Conflicting Classifications		rs_757996262	6 SubmittersRCV000851683 RCV001655593 RCV001811478 RCV002249470 RCV002533972 RCV003230584
NM_000133.4(F9):c.*1157A>G	SNV Germline	ChrX:139563228	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1317977313	4 SubmittersRCV000851959 RCV003322818 RCV003768318
NM_000132.4(F8):c.6932C>A (p.Pro2311His)	SNV Germline	ChrX:154837721	Likely pathogenic	Abnormality of coagulation Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1047644991	2 SubmittersRCV000851860 RCV001803975
NM_000132.4(F8):c.6547A>G (p.Met2183Val)	SNV Germline	ChrX:154863110	Pathogenic/Likely pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_781797728	4 SubmittersRCV000851608 RCV001286233 RCV001310761
NM_000132.4(F8):c.6104T>C (p.Val2035Ala)	SNV Germline	ChrX:154902062	Pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603432906	3 SubmittersRCV000852173 RCV001803976
NM_000132.4(F8):c.5303G>A (p.Arg1768His)	SNV Germline	ChrX:154906490	Pathogenic	Abnormal bleeding Hereditary factor VIII deficiency disease	Reviewed By Expert Panel		rs_151202877	2 SubmittersRCV000852151 RCV003509601
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)	SNV Germline	ChrX:154953991	Pathogenic/Likely pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_137852424	3 SubmittersRCV000852053 RCV001249714
NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	SNV Germline	ChrX:154957009	Likely pathogenic	Hereditary factor IX deficiency disease Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_782193428	2 SubmittersRCV000851714 RCV003994110
NM_000132.4(F8):c.979C>G (p.Leu327Val)	SNV Germline	ChrX:154969361	Pathogenic	Hereditary factor IX deficiency disease F8-related disorder Hereditary factor VIII deficiency disease	Reviewed By Expert Panel		rs_1603435395	4 SubmittersRCV000851921 RCV003396339 RCV003235389
NM_000133.4(F9):c.88+1G>A	SNV Unknown	ChrX:139530853	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603263397	1 SubmittersRCV000851907
NM_000133.4(F9):c.88+5G>T	SNV Unknown	ChrX:139530857	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603263401	1 SubmittersRCV000851908
NM_000133.4(F9):c.520+13A>G	SNV Germline	ChrX:139548504	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Hereditary factor IX deficiency disease Thrombophilia, X-linked, due to factor 9 defect Hereditary factor IX deficiency disease	Criteria Provided Conflicting Classifications		rs_1603265507	3 SubmittersRCV000851944 RCV001869074 RCV002245651
NM_000132.4(F8):c.984T>G (p.Phe328Leu)	SNV Germline	ChrX:154969356	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_782668199	2 SubmittersRCV000825507
NM_000132.4(F8):c.6301C>G (p.His2101Asp)	SNV Germline	ChrX:154896205	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603432783	2 SubmittersRCV000991020
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)	SNV Germline	ChrX:154961144	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_1603435026	2 SubmittersRCV000991026
NM_000132.4(F8):c.605G>A (p.Ser202Asn)	SNV Unknown	ChrX:154987302	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603436218	1 SubmittersRCV000991027
NM_000132.4(F8):c.1835G>T (p.Arg612Leu)	SNV Germline	ChrX:154953960	Likely pathogenic	Condition: not provided Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_782473762	2 SubmittersRCV000996082 RCV002245829
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe)	SNV Germline	ChrX:154861803	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603431511	1 SubmittersRCV001001039
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)	SNV Germline	ChrX:154861819	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1472169963	3 SubmittersRCV001000941 RCV002481798 RCV003480899
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn)	SNV Germline	ChrX:154896210	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603432784	1 SubmittersRCV001002040
NM_000132.4(F8):c.5999G>T (p.Gly2000Val)	SNV Germline	ChrX:154902167	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603432913	1 SubmittersRCV001000840
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)	SNV Germline	ChrX:154904296	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_1603432979	2 SubmittersRCV001002198
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr)	SNV Germline	ChrX:154904870	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603432996	1 SubmittersRCV001002324
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)	SNV Germline	ChrX:154906492	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_782763245	1 SubmittersRCV001002494
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter)	SNV Germline	ChrX:154928920	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603433733	1 SubmittersRCV001001170
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)	SNV Germline	ChrX:154931640	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_942909873	5 SubmittersRCV001000480 RCV002249609 RCV002479189 RCV003656150
NM_000132.4(F8):c.1538-18G>A	SNV Germline	ChrX:154957189	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1482306571	2 SubmittersRCV001001162
NM_000132.4(F8):c.1444-3C>G	SNV Germline	ChrX:154961171	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603435027	1 SubmittersRCV001001168
NM_000132.4(F8):c.1443+5G>A	SNV Germline	ChrX:154965965	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1195283929	1 SubmittersRCV001002370
NM_000132.4(F8):c.1271+1G>A	SNV Germline	ChrX:154966425	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603435260	1 SubmittersRCV001001991
NM_000132.4(F8):c.748A>G (p.Met250Val)	SNV Germline	ChrX:154984726	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_781943293	2 SubmittersRCV001002350
NM_000132.4(F8):c.606T>G (p.Ser202Arg)	SNV Germline	ChrX:154987301	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603436217	1 SubmittersRCV001001316
NM_000132.4(F8):c.601G>A (p.Gly201Arg)	SNV Germline	ChrX:154992936	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1229954426	1 SubmittersRCV001000703
NM_000132.4(F8):c.382T>C (p.Ser128Pro)	SNV Germline	ChrX:154996979	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603436638	1 SubmittersRCV001002229
NM_000132.4(F8):c.377A>G (p.Lys126Arg)	SNV Germline	ChrX:154996984	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603436639	1 SubmittersRCV001000773
NM_000132.4(F8):c.302A>G (p.Asp101Gly)	SNV Germline	ChrX:154997059	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1312347909	1 SubmittersRCV001002670
NM_000132.4(F8):c.219C>G (p.Phe73Leu)	SNV Germline	ChrX:154999525	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1603436770	2 SubmittersRCV001001056 RCV003147573
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)	SNV Germline	ChrX:154837724	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_373079141	2 SubmittersRCV001168451
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)	SNV Germline	ChrX:154896202	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Condition: not provided	Criteria Provided Conflicting Classifications		rs_200433372	5 SubmittersRCV001169186 RCV002249750 RCV003992455
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)	SNV Germline	ChrX:154928727	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_782235155	2 SubmittersRCV001169187 RCV003311954
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)	SNV Germline	ChrX:154930903	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect Condition: not provided	Criteria Provided Conflicting Classifications		rs_199660138	3 SubmittersRCV001166796 RCV002249747 RCV003737015
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)	SNV Germline	ChrX:154931094	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_145089334	3 SubmittersRCV001166797 RCV003163367 RCV003438701
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)	SNV Germline	ChrX:154931578	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201721215	2 SubmittersRCV001166800 RCV002558637
NM_000132.4(F8):c.989A>G (p.His330Arg)	SNV Germline	ChrX:154969351	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease not specified	Criteria Provided Conflicting Classifications		rs_782498015	2 SubmittersRCV001168511 RCV003235482
NM_000132.4(F8):c.5587-93C>T	SNV Germline	ChrX:154904617	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1264918703	6 SubmittersRCV001195277 RCV001552989
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)	SNV Germline	ChrX:154860464	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2072681848	1 SubmittersRCV001265085
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)	SNV Germline	ChrX:154860520	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2072682503	1 SubmittersRCV001265087
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter)	SNV Germline	ChrX:154861728	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1377166595	1 SubmittersRCV001265081
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)	SNV Germline	ChrX:154861762	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1342196860	3 SubmittersRCV001265079 RCV003738025
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter)	SNV Germline	ChrX:154896151	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2072977865	1 SubmittersRCV001265086
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser)	SNV Germline	ChrX:154896187	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1267586059	1 SubmittersRCV001265083
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter)	SNV Germline	ChrX:154929766	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073182544	1 SubmittersRCV001265093
NM_000132.4(F8):c.2627T>A (p.Leu876Ter)	SNV Germline	ChrX:154931163	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073195449	1 SubmittersRCV001265095
NM_000132.4(F8):c.1812G>A (p.Trp604Ter)	SNV Germline	ChrX:154953983	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_137852426	1 SubmittersRCV001265088
NM_000132.4(F8):c.1784T>C (p.Phe595Ser)	SNV Germline	ChrX:154954011	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073351165	1 SubmittersRCV001265091
NM_000132.4(F8):c.5587-2A>G	SNV Germline	ChrX:154904526	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073027912	1 SubmittersRCV001265082
NM_000132.4(F8):c.788-1G>C	SNV Germline	ChrX:154969553	Pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073445259	2 SubmittersRCV001265089
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)	SNV Germline	ChrX:154837632	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2072484280	1 SubmittersRCV001286176
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)	SNV Germline	ChrX:154837658	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2072484506	1 SubmittersRCV001285944
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)	SNV Germline	ChrX:154861722	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1174359623	1 SubmittersRCV001286914
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)	SNV Germline	ChrX:154861744	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2072692745	1 SubmittersRCV001289767
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg)	SNV Germline	ChrX:154902123	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073013277	1 SubmittersRCV001286318
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)	SNV Germline	ChrX:154904029	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1411617809	1 SubmittersRCV001284775
NM_000132.4(F8):c.5813A>G (p.His1938Arg)	SNV Germline	ChrX:154904298	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1603432981	2 SubmittersRCV001285457 RCV003481053
NM_000132.4(F8):c.5219+1G>A	SNV Germline	ChrX:154928570	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1280131174	1 SubmittersRCV001285631
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr)	SNV Germline	ChrX:154928697	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073173387	1 SubmittersRCV001285498
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter)	SNV Germline	ChrX:154929154	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073177296	1 SubmittersRCV001286783
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)	SNV Germline	ChrX:154931350	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter		rs_137852437	3 SubmittersRCV001285250 RCV001703091
NM_000132.4(F8):c.1825A>C (p.Asn609His)	SNV Germline	ChrX:154953970	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073350730	1 SubmittersRCV001287862
NM_000132.4(F8):c.1504G>T (p.Val502Phe)	SNV Germline	ChrX:154961108	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073393106	1 SubmittersRCV001287809
NM_000132.4(F8):c.1202G>A (p.Trp401Ter)	SNV Germline	ChrX:154966495	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073424782	1 SubmittersRCV001285586
NM_000132.4(F8):c.992T>C (p.Ile331Thr)	SNV Germline	ChrX:154969348	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073442480	1 SubmittersRCV001286934
NM_000132.4(F8):c.640T>G (p.Phe214Val)	SNV Germline	ChrX:154987267	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073563995	1 SubmittersRCV001286245
NM_000132.4(F8):c.403G>T (p.Asp135Tyr)	SNV Germline	ChrX:154993134	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073597882	1 SubmittersRCV001285215
NM_000132.4(F8):c.296T>C (p.Val99Ala)	SNV Germline	ChrX:154997065	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_137852382	1 SubmittersRCV001285264
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)	SNV Germline	Chr16:88836232	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-IV-A Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Hereditary factor VIII deficiency disease Morquio syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_772413313	4 SubmittersRCV001321220 RCV004545202 RCV004526837 RCV004579572
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)	SNV Germline	ChrX:154861783	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_782548763	2 SubmittersRCV001330797 RCV001508070
NM_000132.4(F8):c.5816-2A>G	SNV Germline	ChrX:154904090	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123996454	1 SubmittersRCV001420461
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter)	SNV Germline	ChrX:154930524	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073189135	1 SubmittersRCV001420466
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)	SNV Germline	ChrX:154966679	Conflicting classifications of pathogenicity	Condition: not provided Hereditary factor VIII deficiency disease Thrombophilia, X-linked, due to factor 8 defect	Criteria Provided Conflicting Classifications		rs_781954986	5 SubmittersRCV001508074 RCV002272475 RCV002246393
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg)	SNV Germline	ChrX:154904445	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123997081	1 SubmittersRCV001528189
NM_000132.4(F8):c.262A>G (p.Met88Val)	SNV Germline	ChrX:154999482	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_782731044	2 SubmittersRCV001528190 RCV002305613
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)	SNV Germline	ChrX:154947901	Pathogenic/Likely pathogenic	Condition: not provided Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_2073315379	5 SubmittersRCV001703070 RCV002243431
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)	SNV Germline	ChrX:154863214	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1321311878	3 SubmittersRCV001801319 RCV003120694
NM_000132.4(F8):c.755C>T (p.Thr252Ile)	SNV Germline	ChrX:154984719	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1464962436	1 SubmittersRCV001803484
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)	SNV Germline	ChrX:154906485	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124000594	1 SubmittersRCV001803531
NM_000132.4(F8):c.5219G>T (p.Arg1740Met)	SNV Germline	ChrX:154928571	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1444273117	1 SubmittersRCV001803547
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)	SNV Germline	ChrX:154961127	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124099224	1 SubmittersRCV001803593
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)	SNV Germline	ChrX:154863107	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2148568062	1 SubmittersRCV001803603
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)	SNV Germline	ChrX:154906458	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1168919288	1 SubmittersRCV001803671
NM_000132.4(F8):c.787+5G>C	SNV Germline	ChrX:154984682	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1378662017	1 SubmittersRCV001802253
NM_000132.4(F8):c.760A>G (p.Asn254Asp)	SNV Germline	ChrX:154984714	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124131338	1 SubmittersRCV001802265
NM_000132.4(F8):c.6696A>G (p.Gln2232=)	SNV Germline	ChrX:154861745	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201870876	2 SubmittersRCV001802277 RCV003355550
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)	SNV Germline	ChrX:154947763	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1384374956	2 SubmittersRCV001802297
NM_000132.4(F8):c.665A>C (p.Asp222Ala)	SNV Germline	ChrX:154987242	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_137852396	1 SubmittersRCV001802300
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)	SNV Germline	ChrX:154837694	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2148555597	1 SubmittersRCV001802326
NM_000132.4(F8):c.6273G>A (p.Lys2091=)	SNV Germline	ChrX:154899866	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2148584915	1 SubmittersRCV001802350
NM_000132.4(F8):c.5999-2A>C	SNV Germline	ChrX:154902169	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123994187	1 SubmittersRCV001802368
NM_000132.4(F8):c.286C>T (p.Gln96Ter)	SNV Germline	ChrX:154997075	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124146053	1 SubmittersRCV001802391
NM_000132.4(F8):c.388+1G>A	SNV Germline	ChrX:154996972	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1377354928	1 SubmittersRCV001802414
NM_000132.4(F8):c.2902G>T (p.Glu968Ter)	SNV Germline	ChrX:154930888	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_782176982	1 SubmittersRCV001802436
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)	SNV Germline	ChrX:154901440	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123993603	1 SubmittersRCV001802450
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)	SNV Germline	ChrX:154904948	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123997982	1 SubmittersRCV001802479
NM_000132.4(F8):c.2101A>G (p.Met701Val)	SNV Germline	ChrX:154947710	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073313804	1 SubmittersRCV001802513
NM_000132.4(F8):c.2162T>C (p.Met721Thr)	SNV Germline	ChrX:154931628	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1314906579	1 SubmittersRCV001802530
NM_000132.4(F8):c.55A>C (p.Ser19Arg)	SNV Germline	ChrX:155022498	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124174458	1 SubmittersRCV001802542
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)	SNV Germline	ChrX:154861848	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2148567338	1 SubmittersRCV001802551
NM_000132.4(F8):c.650T>G (p.Leu217Arg)	SNV Germline	ChrX:154987257	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124134359	1 SubmittersRCV001802555
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)	SNV Germline	ChrX:154929032	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124048012	1 SubmittersRCV001802578
NM_000132.4(F8):c.1316G>T (p.Gly439Val)	SNV Germline	ChrX:154966097	Pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1362305882	2 SubmittersRCV003987908 RCV003657337
NM_000132.4(F8):c.1481T>G (p.Ile494Ser)	SNV Germline	ChrX:154961131	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_137852413	1 SubmittersRCV001802583
NM_000132.4(F8):c.74A>G (p.Tyr25Cys)	SNV Germline	ChrX:155022479	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124174443	1 SubmittersRCV001802616
NM_000132.4(F8):c.1430G>T (p.Gly477Val)	SNV Germline	ChrX:154965983	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124105158	1 SubmittersRCV001802699
NM_000132.4(F8):c.650T>C (p.Leu217Pro)	SNV Germline	ChrX:154987257	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124134359	1 SubmittersRCV001802744
NM_000132.4(F8):c.1169T>C (p.Ile390Thr)	SNV Germline	ChrX:154966528	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124106062	1 SubmittersRCV001838833
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg)	SNV Germline	ChrX:154904891	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073029867	1 SubmittersRCV002222140
NM_000132.4(F8):c.1930T>G (p.Leu644Val)	SNV Unknown	ChrX:154947881	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124082414	1 SubmittersRCV002223107
NM_000132.4(F8):c.2150G>T (p.Arg717Leu)	SNV Germline	ChrX:154931640	Conflicting classifications of pathogenicity	Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_942909873	2 SubmittersRCV002223108
NM_000132.4(F8):c.853G>A (p.Val285Met)	SNV Germline	ChrX:154969487	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073444412	1 SubmittersRCV002227328
NM_000132.4(F8):c.1696C>T (p.Leu566Phe)	SNV Germline	ChrX:154957013	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124094420	1 SubmittersRCV002227385
NM_000132.4(F8):c.901C>T (p.Arg301Cys)	SNV Unknown	ChrX:154969439	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1401805753	1 SubmittersRCV002245382
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)	SNV Unknown	ChrX:154837685	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_137852474	1 SubmittersRCV002245383
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly)	SNV Unknown	ChrX:154861824	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2072694107	1 SubmittersRCV002245384
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)	SNV Germline	ChrX:154902119	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Single Submitter		rs_1444225681	2 SubmittersRCV002245385 RCV003886572
NM_000132.4(F8):c.509C>T (p.Pro170Leu)	SNV Unknown	ChrX:154993028	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2124140933	1 SubmittersRCV002245387
NM_000132.4(F8):c.460A>G (p.Thr154Ala)	SNV Germline	ChrX:154993077	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_1603436436	1 SubmittersRCV002245389
NM_000132.4(F8):c.308T>C (p.Val103Ala)	SNV Unknown	ChrX:154997053	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided		rs_2073621465	1 SubmittersRCV002245390
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)	SNV Germline	ChrX:154837702	Conflicting classifications of pathogenicity	Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_782799573	2 SubmittersRCV002249948 RCV004577012
NM_000132.4(F8):c.5999-11G>A	SNV Germline	ChrX:154902178	Conflicting classifications of pathogenicity	Thrombophilia, X-linked, due to factor 8 defect Condition: not provided Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_782132907	3 SubmittersRCV002249951 RCV003120851 RCV003228807
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	SNV Germline	ChrX:154928646	Conflicting classifications of pathogenicity	Thrombophilia, X-linked, due to factor 8 defect not specified Condition: not provided Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_781876217	4 SubmittersRCV002249957 RCV003403750 RCV003738163 RCV004017909
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)	SNV Germline	ChrX:154928962	Conflicting classifications of pathogenicity	Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_782127226	2 SubmittersRCV002249958 RCV002471263
NM_000132.4(F8):c.2840C>G (p.Pro947Arg)	SNV Germline	ChrX:154930950	Conflicting classifications of pathogenicity	Thrombophilia, X-linked, due to factor 8 defect Hereditary factor VIII deficiency disease	Criteria Provided Conflicting Classifications		rs_782318401	2 SubmittersRCV002249964 RCV002471264
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)	SNV Germline	ChrX:154902167	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1603432913	1 SubmittersRCV002272597
NM_000132.4(F8):c.671-1G>A	SNV Germline	ChrX:154984804	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1255271151	1 SubmittersRCV002272637
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)	SNV Germline	ChrX:154904049	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123996355	1 SubmittersRCV002272639
NM_000132.4(F8):c.967G>A (p.Gly323Arg)	SNV Germline	ChrX:154969373	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124109849	1 SubmittersRCV002272640
NM_000132.4(F8):c.1443+2T>G	SNV Germline	ChrX:154965968	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2073420861	1 SubmittersRCV002272643
NM_000132.4(F8):c.1203G>A (p.Trp401Ter)	SNV Germline	ChrX:154966494	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2124106016	1 SubmittersRCV002272676
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)	SNV Germline	ChrX:154906491	Pathogenic/Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts		rs_1046670041	2 SubmittersRCV002272720
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)	SNV Germline	ChrX:154901439	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_2123993600	1 SubmittersRCV002272788
NM_000132.4(F8):c.2163G>T (p.Met721Ile)	SNV Germline	ChrX:154931627	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter		rs_1218576358	1 SubmittersRCV002273142
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)	SNV Germline	ChrX:154904021	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002281005
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)	SNV Germline	ChrX:154929718	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002281635
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)	SNV Germline	ChrX:154896131	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002283781
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)	SNV Germline	ChrX:154904051	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466796
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)	SNV Germline	ChrX:154947904	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466803
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)	SNV Germline	ChrX:154904051	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466889
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)	SNV Germline	ChrX:154899866	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466910
NM_000132.4(F8):c.557A>G (p.Asp186Gly)	SNV Germline	ChrX:154992980	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466915
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)	SNV Germline	ChrX:154902114	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002466945
NM_000132.4(F8):c.335C>T (p.Ser112Phe)	SNV Germline	ChrX:154997026	Likely pathogenic	Hereditary factor VIII deficiency disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002466954 RCV003738280
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)	SNV Germline	Chr10:71778222	Likely pathogenic	Condition: not provided Pituitary adenoma 5, multiple types Hereditary factor VIII deficiency disease Usher syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003062274 RCV003475493 RCV004526222 RCV004579587
NM_000132.4(F8):c.2045T>C (p.Val682Ala)	SNV Unknown	ChrX:154947766	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV002795924
NM_000132.4(F8):c.6115+2T>C	SNV Unknown	ChrX:154902049	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003152909
NM_000132.4(F8):c.6900+1G>C	SNV Unknown	ChrX:154860431	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003152975
NM_000132.4(F8):c.5586+2T>C	SNV Unknown	ChrX:154904809	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003152982
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)	SNV Unknown	ChrX:154906503	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003153049
NM_000132.4(F8):c.6274-2A>G	SNV Unknown	ChrX:154896234	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003153065
NM_000132.4(F8):c.2043G>A (p.Met681Ile)	SNV Unknown	ChrX:154947768	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003153227
NM_000132.4(F8):c.683A>C (p.His228Pro)	SNV Germline	ChrX:154984791	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003327330
NM_000132.4(F8):c.1904-2A>G	SNV Germline	ChrX:154947909	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003388689
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)	SNV Germline	ChrX:154966008	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003388752
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)	SNV Germline	ChrX:154863152	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003405132
NM_000132.4(F8):c.836T>G (p.Met279Arg)	SNV Germline	ChrX:154969504	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003405199
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)	SNV Germline	ChrX:154931073	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003405200
NM_000132.4(F8):c.745A>T (p.Lys249Ter)	SNV Germline	ChrX:154984729	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003405201
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)	SNV Germline	ChrX:154896181	Likely pathogenic	Hereditary factor VIII deficiency disease	No Assertion Criteria Provided			1 SubmittersRCV003444533
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)	SNV Germline	ChrX:154861731	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003447792
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)	SNV Germline	ChrX:154904836	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003479575
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)	SNV Germline	ChrX:154930653	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003479725
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)	SNV Germline	ChrX:154928689	Likely pathogenic	Condition: not provided Hereditary factor VIII deficiency disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003480393 RCV003988123
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)	SNV Unknown	ChrX:154860511	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003484564
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)	SNV Unknown	ChrX:154863203	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003484565
NM_000132.4(F8):c.1899G>T (p.Met633Ile)	SNV Germline	ChrX:154953896	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510972
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)	SNV Germline	ChrX:154947724	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510973
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)	SNV Germline	ChrX:154966041	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510974
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)	SNV Germline	ChrX:154904909	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510975
NM_000132.4(F8):c.686C>A (p.Ser229Ter)	SNV Germline	ChrX:154984788	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510977
NM_000132.4(F8):c.6429+2T>A	SNV Germline	ChrX:154896075	Pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV003510978
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)	SNV Unknown	ChrX:154906487	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003985710
NM_000132.4(F8):c.476T>A (p.Val159Asp)	SNV Germline	ChrX:154993061	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003986024
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)	SNV Germline	ChrX:154957051	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003988311
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)	SNV Germline	ChrX:154930405	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003990267
NM_000132.4(F8):c.784C>G (p.Pro262Ala)	SNV Germline	ChrX:154984690	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003992864
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)	SNV Germline	ChrX:154928572	Pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV003991908
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)	SNV Germline	ChrX:154906496	Likely pathogenic	Hereditary factor VIII deficiency disease	Criteria Provided Single Submitter			1 SubmittersRCV004555777
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)	SNV Germline	ChrX:154966453	Likely pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV004577665
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)	SNV Germline	ChrX:154837638	Likely pathogenic	Hereditary factor VIII deficiency disease	Reviewed By Expert Panel			1 SubmittersRCV004577666

NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)

SNV
Germline

ChrX:154837677

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255007

rs_137852354

4 SubmittersRCV000010797

NM_000132.4(F8):c.6682C>T (p.Arg2228Ter)

SNV
Germline

ChrX:154861759

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

CA255009

rs_137852355

2 SubmittersRCV000010798 RCV003656621

NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)

SNV
Germline

ChrX:154896103

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255011

rs_137852356

3 SubmittersRCV000010800 RCV002284167

NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)

SNV
Germline

ChrX:154863161

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255013

rs_137852357

2 SubmittersRCV000010808

NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)

SNV
Germline

ChrX:154861758

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255016

rs_137852358

3 SubmittersRCV000010810 RCV000852189

NM_000132.4(F8):c.872A>G (p.Glu291Gly)

SNV
Germline

ChrX:154969468

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255017

rs_137852359

1 SubmittersRCV000010811

NM_000132.4(F8):c.6977G>T (p.Arg2326Leu)

SNV
Germline

ChrX:154837676

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255018

rs_137852360

2 SubmittersRCV000010821

NM_000132.4(F8):c.5879G>A (p.Arg1960Gln)

SNV
Germline

ChrX:154904025

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255019

rs_28937294

3 SubmittersRCV000010822 RCV000756109

NM_000132.4(F8):c.1172G>A (p.Arg391His)

SNV
Germline

ChrX:154966525

Pathogenic

FACTOR VIII (OKAYAMA)
Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA120918

rs_28935499

4 SubmittersRCV000010823 RCV000757254 RCV000852002

NM_000132.4(F8):c.5113C>T (p.Gln1705Ter)

SNV
Germline

ChrX:154928677

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255020

rs_137852361

1 SubmittersRCV000010824

NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)

SNV
Germline

ChrX:154928668

Pathogenic

Hereditary factor VIII deficiency disease
FACTOR VIII (EAST HARTFORD)
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA120919

rs_111033613

7 SubmittersRCV000010826 RCV000010827 RCV001092277

NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)

SNV
Germline

ChrX:154928694

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255022

rs_28935203

5 SubmittersRCV000010828 RCV002508187

NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys)

SNV
Germline

ChrX:154928607

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255023

rs_137852362

1 SubmittersRCV000010829

NM_000132.4(F8):c.5878C>T (p.Arg1960Ter)

SNV
Germline

ChrX:154904026

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255024

rs_137852363

2 SubmittersRCV000010831

NM_000132.4(F8):c.1171C>T (p.Arg391Cys)

SNV
Germline

ChrX:154966526

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255026

rs_137852364

2 SubmittersRCV000010838

NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)

SNV
Germline

ChrX:154837676

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255027

rs_137852360

5 SubmittersRCV000010839 RCV000851861 RCV001169905

NM_000132.4(F8):c.6554T>C (p.Leu2185Ser)

SNV
Germline

ChrX:154863103

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255028

rs_137852365

1 SubmittersRCV000010840

NM_000132.4(F8):c.6404G>C (p.Arg2135Pro)

SNV
Germline

ChrX:154896102

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255029

rs_137852366

1 SubmittersRCV000010841

NM_000132.4(F8):c.566C>T (p.Ser189Leu)

SNV
Germline

ChrX:154992971

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

CA255030

rs_137852367

2 SubmittersRCV000010842 RCV003480026

NM_000132.4(F8):c.1063C>T (p.Arg355Ter)

SNV
Germline

ChrX:154966634

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255031

rs_137852368

4 SubmittersRCV000010852

NM_000132.4(F8):c.5821A>G (p.Asn1941Asp)

SNV
Germline

ChrX:154904083

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255033

rs_137852369

1 SubmittersRCV000010853

NM_000132.4(F8):c.985T>C (p.Cys329Arg)

SNV
Germline

ChrX:154969355

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255034

rs_387906430

1 SubmittersRCV000010854

NM_000132.4(F8):c.1033G>T (p.Val345Leu)

SNV
Germline

ChrX:154966664

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255036

rs_137852371

1 SubmittersRCV000010855

NM_000132.4(F8):c.1336C>T (p.Arg446Ter)

SNV
Germline

ChrX:154966077

Pathogenic

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Single Submitter

CA255038

rs_137852372

2 SubmittersRCV000010858 RCV002247316

NM_000132.4(F8):c.5167G>A (p.Glu1723Lys)

SNV
Germline

ChrX:154928623

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255040

rs_137852373

1 SubmittersRCV000010859

NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)

SNV
Germline

ChrX:154837698

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255041

rs_137852374

1 SubmittersRCV000010860

NM_000132.4(F8):c.5372T>C (p.Met1791Thr)

SNV
Germline

ChrX:154906421

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255042

rs_137852375

1 SubmittersRCV000010861

NM_000132.4(F8):c.1754T>C (p.Ile585Thr)

SNV
Germline

ChrX:154954041

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255043

rs_137852376

1 SubmittersRCV000010862

NM_000132.4(F8):c.43C>T (p.Arg15Ter)

SNV
Germline

ChrX:155022510

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255044

rs_387906432

4 SubmittersRCV000010865 RCV003114181

NM_000132.4(F8):c.77T>G (p.Leu26Arg)

SNV
Germline

ChrX:155022476

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255046

rs_137852377

1 SubmittersRCV000010866

NM_000132.4(F8):c.89A>T (p.Glu30Val)

SNV
Germline

ChrX:155022464

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255047

rs_137852378

1 SubmittersRCV000010867

NM_000132.4(F8):c.121G>T (p.Gly41Cys)

SNV
Germline

ChrX:155022432

Pathogenic

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Single Submitter

CA255048

rs_137852379

2 SubmittersRCV000010869 RCV002247317

NM_000132.4(F8):c.602-2A>G

SNV
Germline

ChrX:154987307

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2124134457

1 SubmittersRCV000010875

NM_000132.4(F8):c.266G>A (p.Gly89Asp)

SNV
Germline

ChrX:154997095

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255052

rs_137852380

1 SubmittersRCV000010876

NM_000132.4(F8):c.275G>T (p.Gly92Val)

SNV
Germline

ChrX:154997086

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255053

rs_137852381

1 SubmittersRCV000010877

NM_000132.4(F8):c.296T>A (p.Val99Asp)

SNV
Germline

ChrX:154997065

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255054

rs_137852382

1 SubmittersRCV000010878

NM_000132.4(F8):c.311T>A (p.Val104Asp)

SNV
Germline

ChrX:154997050

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255055

rs_137852383

1 SubmittersRCV000010879

NM_000132.4(F8):c.323A>C (p.Lys108Thr)

SNV
Germline

ChrX:154997038

Pathogenic

Hereditary factor VIII deficiency disease
not specified
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA255056

rs_137852384

3 SubmittersRCV000010880 RCV000508582 RCV002247318

NM_000132.4(F8):c.328A>G (p.Met110Val)

SNV
Germline

ChrX:154997033

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255057

rs_137852385

1 SubmittersRCV000010881

NM_000132.4(F8):c.350T>G (p.Leu117Arg)

SNV
Germline

ChrX:154997011

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255058

rs_137852386

1 SubmittersRCV000010882

NM_000132.4(F8):c.388G>C (p.Gly130Arg)

SNV
Germline

ChrX:154996973

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255059

rs_137852387

1 SubmittersRCV000010883

NM_000132.4(F8):c.396A>C (p.Glu132Asp)

SNV
Germline

ChrX:154993141

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Condition: not provided
Hemorrhage
Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
F8-related disorder

Criteria Provided
Conflicting Classifications

CA255060

rs_137852388

8 SubmittersRCV000010884 RCV001529373 RCV002280860 RCV002496321 RCV002247319 RCV003952352

NM_000132.4(F8):c.398A>G (p.Tyr133Cys)

SNV
Germline

ChrX:154993139

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255061

rs_137852389

1 SubmittersRCV000010885

NM_000132.4(F8):c.404A>G (p.Asp135Gly)

SNV
Germline

ChrX:154993133

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255062

rs_137852390

1 SubmittersRCV000010886

NM_000132.4(F8):c.410C>T (p.Thr137Ile)

SNV
Germline

ChrX:154993127

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255063

rs_137852391

1 SubmittersRCV000010887

NM_000132.4(F8):c.491G>T (p.Gly164Val)

SNV
Germline

ChrX:154993046

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255064

rs_137852392

1 SubmittersRCV000010888

NM_000132.4(F8):c.493C>T (p.Pro165Ser)

SNV
Germline

ChrX:154993044

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255065

rs_137852393

3 SubmittersRCV000010889 RCV003657257

NM_000132.4(F8):c.541G>A (p.Val181Met)

SNV
Germline

ChrX:154992996

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided
Hereditary factor IX deficiency disease
F8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255066

rs_137852394

6 SubmittersRCV000010890 RCV001701720 RCV000851946 RCV003398478

NM_000132.4(F8):c.554A>C (p.Lys185Thr)

SNV
Germline

ChrX:154992983

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255067

rs_137852395

1 SubmittersRCV000010891

NM_000132.4(F8):c.665A>T (p.Asp222Val)

SNV
Germline

ChrX:154987242

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255068

rs_137852396

1 SubmittersRCV000010892

NM_000132.4(F8):c.670G>T (p.Gly224Trp)

SNV
Germline

ChrX:154987237

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255069

rs_137852397

1 SubmittersRCV000010893

NM_000132.4(F8):c.671-2A>G

SNV
Germline

ChrX:154984805

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2124131475

1 SubmittersRCV000010895

NM_000132.4(F8):c.787+3A>G

SNV
Germline

ChrX:154984684

Likely pathogenic

Hereditary factor VIII deficiency disease
F8-related disorder

Criteria Provided
Single Submitter

rs_2073548872

2 SubmittersRCV000010896 RCV003934820

NM_000132.4(F8):c.797G>A (p.Gly266Glu)

SNV
Germline

ChrX:154969543

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255071

rs_137852398

2 SubmittersRCV000010898

NM_000132.4(F8):c.822G>A (p.Trp274Ter)

SNV
Germline

ChrX:154969518

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255072

rs_34371500

1 SubmittersRCV000010899

NM_000132.4(F8):c.832G>A (p.Gly278Arg)

SNV
Germline

ChrX:154969508

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255074

rs_137852399

1 SubmittersRCV000010900

NM_000132.4(F8):c.854T>G (p.Val285Gly)

SNV
Germline

ChrX:154969486

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255076

rs_137852400

1 SubmittersRCV000010902

NM_000132.4(F8):c.881C>T (p.Thr294Ile)

SNV
Germline

ChrX:154969459

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255077

rs_137852401

1 SubmittersRCV000010903

NM_000132.4(F8):c.896A>T (p.Asn299Ile)

SNV
Germline

ChrX:154969444

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255078

rs_137852402

1 SubmittersRCV000010904

NM_000132.4(F8):c.902G>A (p.Arg301His)

SNV
Germline

ChrX:154969438

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255079

rs_137852403

3 SubmittersRCV000010905 RCV000255290

NM_000132.4(F8):c.902G>T (p.Arg301Leu)

SNV
Germline

ChrX:154969438

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255080

rs_137852403

1 SubmittersRCV000010906

NM_000132.4(F8):c.923C>T (p.Ser308Leu)

SNV
Germline

ChrX:154969417

Pathogenic

Hereditary factor VIII deficiency disease
F8-related disorder

Reviewed By Expert Panel

CA255082

rs_137852404

3 SubmittersRCV000010908 RCV003415685

NM_000132.4(F8):c.935T>C (p.Phe312Ser)

SNV
Germline

ChrX:154969405

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255083

rs_137852405

4 SubmittersRCV000010909 RCV000852250 RCV003656098

NM_000132.4(F8):c.940A>G (p.Thr314Ala)

SNV
Germline

ChrX:154969400

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255084

rs_137852406

3 SubmittersRCV000010910 RCV004566717

NM_000132.4(F8):c.980T>C (p.Leu327Pro)

SNV
Germline

ChrX:154969360

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255086

rs_137852407

1 SubmittersRCV000010912

NM_000132.4(F8):c.1026T>A (p.Tyr342Ter)

SNV
Germline

ChrX:154966671

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255087

rs_137852408

1 SubmittersRCV000010913

NM_000132.4(F8):c.986G>A (p.Cys329Tyr)

SNV
Germline

ChrX:154969354

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255089

rs_137852409

2 SubmittersRCV000010914

NM_000132.4(F8):c.1043G>C (p.Cys348Ser)

SNV
Germline

ChrX:154966654

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255091

rs_137852410

1 SubmittersRCV000010915

NM_000132.4(F8):c.1175C>A (p.Ser392Ter)

SNV
Germline

ChrX:154966522

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255093

rs_28933668

1 SubmittersRCV000010917

NM_000132.4(F8):c.1175C>T (p.Ser392Leu)

SNV
Germline

ChrX:154966522

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

CA255095

rs_28933668

2 SubmittersRCV000010918 RCV003114182

NM_000132.4(F8):c.1174T>C (p.Ser392Pro)

SNV
Germline

ChrX:154966523

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255096

rs_28933669

1 SubmittersRCV000010919

NM_000132.4(F8):c.1214T>G (p.Ile405Ser)

SNV
Germline

ChrX:154966483

Likely pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255098

rs_28933670

2 SubmittersRCV000010921

NM_000132.4(F8):c.1226A>G (p.Glu409Gly)

SNV
Germline

ChrX:154966471

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255099

rs_28933671

1 SubmittersRCV000010922

NM_000132.4(F8):c.1293G>T (p.Leu431Phe)

SNV
Germline

ChrX:154966120

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255100

rs_28933672

1 SubmittersRCV000010923

NM_000132.4(F8):c.1331A>G (p.Lys444Arg)

SNV
Germline

ChrX:154966082

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255102

rs_28937272

1 SubmittersRCV000010925

NM_000132.4(F8):c.1348T>A (p.Tyr450Asn)

SNV
Germline

ChrX:154966065

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255103

rs_111033616

1 SubmittersRCV000010926

NM_000132.4(F8):c.1417T>C (p.Tyr473His)

SNV
Germline

ChrX:154965996

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255104

rs_387906443

1 SubmittersRCV000010927

NM_000132.4(F8):c.1418A>G (p.Tyr473Cys)

SNV
Germline

ChrX:154965995

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255106

rs_387906444

1 SubmittersRCV000010928

NM_000132.4(F8):c.1481T>C (p.Ile494Thr)

SNV
Germline

ChrX:154961131

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255108

rs_137852413

1 SubmittersRCV000010929

NM_000132.4(F8):c.1492G>A (p.Gly498Arg)

SNV
Germline

ChrX:154961120

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255109

rs_137852414

3 SubmittersRCV000010930 RCV000851700

NM_000132.4(F8):c.1538-1G>T

SNV
Germline

ChrX:154957172

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1414679955

1 SubmittersRCV000010932

NM_000132.4(F8):c.1630G>A (p.Asp544Asn)

SNV
Germline

ChrX:154957079

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255111

rs_137852415

1 SubmittersRCV000010934

NM_000132.4(F8):c.1636C>T (p.Arg546Trp)

SNV
Germline

ChrX:154957073

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255112

rs_137852416

6 SubmittersRCV000010935 RCV000852048 RCV003103711

NM_000132.4(F8):c.1648C>T (p.Arg550Cys)

SNV
Germline

ChrX:154957061

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255113

rs_137852417

1 SubmittersRCV000010936

NM_000132.4(F8):c.1648C>G (p.Arg550Gly)

SNV
Germline

ChrX:154957061

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

CA255114

rs_137852417

2 SubmittersRCV000010937 RCV000757245

NM_000132.4(F8):c.1649G>A (p.Arg550His)

SNV
Germline

ChrX:154957060

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Reviewed By Expert Panel

CA255115

rs_137852418

4 SubmittersRCV000010938 RCV003656622

NM_000132.4(F8):c.1660A>G (p.Ser554Gly)

SNV
Germline

ChrX:154957049

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided
F8-related disorder

Reviewed By Expert Panel

CA255116

rs_137852419

7 SubmittersRCV000010939 RCV000727106 RCV003934821

NM_000132.4(F8):c.1682A>G (p.Asp561Gly)

SNV
Germline

ChrX:154957027

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255117

rs_137852420

1 SubmittersRCV000010940

NM_000132.4(F8):c.1726G>T (p.Glu576Ter)

SNV
Germline

ChrX:154956983

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255118

rs_137852421

1 SubmittersRCV000010941

NM_000132.4(F8):c.1730C>T (p.Ser577Phe)

SNV
Germline

ChrX:154956979

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255120

rs_28937282

1 SubmittersRCV000010942

NM_000132.4(F8):c.1750C>A (p.Gln584Lys)

SNV
Germline

ChrX:154956959

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255121

rs_137852422

1 SubmittersRCV000010943

NM_000132.4(F8):c.1729T>C (p.Ser577Pro)

SNV
Germline

ChrX:154956980

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255122

rs_387906446

1 SubmittersRCV000010944

NM_000132.4(F8):c.1804C>T (p.Arg602Ter)

SNV
Germline

ChrX:154953991

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Reviewed By Expert Panel

CA255124

rs_137852424

5 SubmittersRCV000010945 RCV000852054

NM_000132.4(F8):c.1808G>T (p.Ser603Ile)

SNV
Germline

ChrX:154953987

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255126

rs_137852425

1 SubmittersRCV000010946

NM_000132.4(F8):c.1812G>C (p.Trp604Cys)

SNV
Germline

ChrX:154953983

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255127

rs_137852426

1 SubmittersRCV000010947

NM_000132.4(F8):c.1814A>C (p.Tyr605Ser)

SNV
Germline

ChrX:154953981

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255128

rs_137852427

1 SubmittersRCV000010948

NM_000132.4(F8):c.1834C>T (p.Arg612Cys)

SNV
Germline

ChrX:154953961

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Familial aortopathy

Reviewed By Expert Panel

CA255129

rs_137852428

10 SubmittersRCV000010949 RCV000413577 RCV000851933 RCV002247320 RCV004540992

NM_000132.4(F8):c.1892A>G (p.Asn631Ser)

SNV
Germline

ChrX:154953903

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255130

rs_137852429

1 SubmittersRCV000010950

NM_000132.4(F8):c.1903+5G>A

SNV
Germline

ChrX:154953887

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2124090120

1 SubmittersRCV000010951

NM_000132.4(F8):c.1958T>C (p.Val653Ala)

SNV
Germline

ChrX:154947853

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255131

rs_137852430

1 SubmittersRCV000010952

NM_000132.4(F8):c.1957G>A (p.Val653Met)

SNV
Germline

ChrX:154947854

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255132

rs_137852431

1 SubmittersRCV000010953

NM_000132.4(F8):c.1965C>G (p.Tyr655Ter)

SNV
Germline

ChrX:154947846

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255133

rs_137852432

1 SubmittersRCV000010954

NM_000132.4(F8):c.1988C>T (p.Ala663Val)

SNV
Germline

ChrX:154947823

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255135

rs_137852433

1 SubmittersRCV000010955

NM_000132.4(F8):c.2029T>C (p.Phe677Leu)

SNV
Germline

ChrX:154947782

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255136

rs_137852434

1 SubmittersRCV000010957

NM_000132.4(F8):c.2149C>T (p.Arg717Trp)

SNV
Germline

ChrX:154931641

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Abnormality of coagulation
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA255137

rs_137852435

9 SubmittersRCV000010958 RCV000851590 RCV000851937 RCV002247321 RCV002490350 RCV002281701

NM_000132.4(F8):c.2167G>A (p.Ala723Thr)

SNV
Germline

ChrX:154931623

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA255138

rs_137852436

7 SubmittersRCV000010959 RCV000852072 RCV001560529 RCV002490351

NM_000132.4(F8):c.2215G>A (p.Glu739Lys)

SNV
Germline

ChrX:154931575

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255139

rs_28937285

2 SubmittersRCV000010960

NM_000132.4(F8):c.2383A>T (p.Arg795Ter)

SNV
Germline

ChrX:154931407

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255140

rs_2228152

1 SubmittersRCV000010961

NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)

SNV
Germline

ChrX:154930621

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
not specified
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Conflicting Classifications

CA255144

rs_28933673

7 SubmittersRCV000010964 RCV000601703 RCV002247322

NM_000132.4(F8):c.4900G>T (p.Glu1634Ter)

SNV
Germline

ChrX:154928890

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_137852438

1 SubmittersRCV000010978

NM_000132.4(F8):c.5123G>A (p.Arg1708His)

SNV
Germline

ChrX:154928667

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Abnormality of coagulation
Condition: not provided
F8-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255154

rs_111033614

7 SubmittersRCV000010979 RCV000851813 RCV001091839 RCV003914826

NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)

SNV
Germline

ChrX:154928647

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255155

rs_137852439

3 SubmittersRCV000010980

NM_000132.4(F8):c.5143C>G (p.Arg1715Gly)

SNV
Germline

ChrX:154928647

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

CA255157

rs_137852439

2 SubmittersRCV000010981 RCV003114183

NM_000132.4(F8):c.5220-2A>G

SNV
Germline

ChrX:154906575

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073039685

1 SubmittersRCV000010982

NM_000132.4(F8):c.5305G>A (p.Gly1769Arg)

SNV
Germline

ChrX:154906488

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255158

rs_137852440

1 SubmittersRCV000010983

NM_000132.4(F8):c.5323T>G (p.Leu1775Val)

SNV
Germline

ChrX:154906470

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255159

rs_28937287

1 SubmittersRCV000010984

NM_000132.4(F8):c.5325G>C (p.Leu1775Phe)

SNV
Germline

ChrX:154906468

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255160

rs_137852441

1 SubmittersRCV000010985

NM_000132.4(F8):c.5336G>A (p.Gly1779Glu)

SNV
Germline

ChrX:154906457

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255161

rs_28937289

1 SubmittersRCV000010986

NM_000132.4(F8):c.5399G>A (p.Arg1800His)

SNV
Germline

ChrX:154904998

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided
F8-related disorder

Reviewed By Expert Panel

CA255162

rs_137852442

7 SubmittersRCV000010987 RCV001552643 RCV003430635

NM_000132.4(F8):c.5398C>T (p.Arg1800Cys)

SNV
Germline

ChrX:154904999

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255163

rs_137852443

1 SubmittersRCV000010988

NM_000132.4(F8):c.5398C>G (p.Arg1800Gly)

SNV
Germline

ChrX:154904999

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255164

rs_137852443

1 SubmittersRCV000010989

NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr)

SNV
Germline

ChrX:154904989

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255165

rs_137852444

1 SubmittersRCV000010990

NM_000132.4(F8):c.5422C>T (p.Leu1808Phe)

SNV
Germline

ChrX:154904975

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255166

rs_137852445

2 SubmittersRCV000010991

NM_000132.4(F8):c.5443C>T (p.Gln1815Ter)

SNV
Germline

ChrX:154904954

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255167

rs_137852446

1 SubmittersRCV000010992

NM_000132.4(F8):c.5526G>A (p.Met1842Ile)

SNV
Germline

ChrX:154904871

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255169

rs_28933674

1 SubmittersRCV000010993

NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)

SNV
Germline

ChrX:154904867

Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Criteria Provided
Single Submitter

CA255170

rs_28933675

2 SubmittersRCV000010994 RCV000851817

NM_000132.4(F8):c.5533A>C (p.Thr1845Pro)

SNV
Germline

ChrX:154904864

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255171

rs_28933676

1 SubmittersRCV000010995

NM_000132.4(F8):c.5479A>T (p.Lys1827Ter)

SNV
Germline

ChrX:154904918

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255172

rs_387906457

1 SubmittersRCV000010996

NM_000132.4(F8):c.5558C>T (p.Ala1853Val)

SNV
Germline

ChrX:154904839

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255174

rs_28933677

1 SubmittersRCV000010997

NM_000132.4(F8):c.5586G>A (p.Leu1862=)

SNV
Germline

ChrX:154904811

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2123997676

1 SubmittersRCV000010998

NM_000132.4(F8):c.5593G>A (p.Asp1865Asn)

SNV
Germline

ChrX:154904518

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255175

rs_28933678

1 SubmittersRCV000010999

NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr)

SNV
Germline

ChrX:154904518

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255176

rs_28933678

1 SubmittersRCV000011000

NM_000132.4(F8):c.5618C>G (p.Pro1873Arg)

SNV
Germline

ChrX:154904493

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255178

rs_28933680

1 SubmittersRCV000011002

NM_000132.4(F8):c.5677C>T (p.Gln1893Ter)

SNV
Germline

ChrX:154904434

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255180

rs_137852448

1 SubmittersRCV000011004

NM_000132.4(F8):c.5710G>A (p.Glu1904Lys)

SNV
Germline

ChrX:154904401

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255182

rs_28933681

1 SubmittersRCV000011005

NM_000132.4(F8):c.5822A>G (p.Asn1941Ser)

SNV
Germline

ChrX:154904082

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255184

rs_28933682

5 SubmittersRCV000011007

NM_000132.4(F8):c.5879G>T (p.Arg1960Leu)

SNV
Germline

ChrX:154904025

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255185

rs_28937294

1 SubmittersRCV000011008

NM_000132.4(F8):c.5882G>A (p.Trp1961Ter)

SNV
Germline

ChrX:154904022

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255186

rs_137852449

1 SubmittersRCV000011009

NM_000132.4(F8):c.5900G>A (p.Gly1967Asp)

SNV
Germline

ChrX:154904004

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255188

rs_111033615

1 SubmittersRCV000011010

NM_000132.4(F8):c.5936G>T (p.Gly1979Val)

SNV
Germline

ChrX:154903968

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255189

rs_137852450

1 SubmittersRCV000011011

NM_000132.4(F8):c.5938C>T (p.His1980Tyr)

SNV
Germline

ChrX:154903966

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255190

rs_137852451

1 SubmittersRCV000011012

NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)

SNV
Germline

ChrX:154903951

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255191

rs_137852452

2 SubmittersRCV000011013

NM_000132.4(F8):c.6016G>T (p.Glu2006Ter)

SNV
Germline

ChrX:154902150

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255195

rs_267606791

1 SubmittersRCV000011016

NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)

SNV
Germline

ChrX:154902120

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA255197

rs_137852453

5 SubmittersRCV000011017

NM_000132.4(F8):c.6113A>G (p.Asn2038Ser)

SNV
Germline

ChrX:154902053

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255198

rs_137852454

1 SubmittersRCV000011018

NM_000132.4(F8):c.6193T>C (p.Trp2065Arg)

SNV
Germline

ChrX:154899946

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255199

rs_137852455

1 SubmittersRCV000011019

NM_000132.4(F8):c.6263C>T (p.Ser2088Phe)

SNV
Germline

ChrX:154899876

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255200

rs_137852456

1 SubmittersRCV000011020

NM_000132.4(F8):c.6278A>G (p.Asp2093Gly)

SNV
Germline

ChrX:154896228

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255201

rs_137852457

1 SubmittersRCV000011021

NM_000132.4(F8):c.6360T>G (p.Phe2120Leu)

SNV
Germline

ChrX:154896146

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255202

rs_137852458

1 SubmittersRCV000011022

NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)

SNV
Germline

ChrX:154896135

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255203

rs_137852459

4 SubmittersRCV000011023 RCV001508071

NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr)

SNV
Germline

ChrX:154896093

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255204

rs_137852460

1 SubmittersRCV000011024

NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)

SNV
Germline

ChrX:154863124

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255207

rs_137852465

2 SubmittersRCV000011027

NM_000132.4(F8):c.6506G>A (p.Arg2169His)

SNV
Germline

ChrX:154863151

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255208

rs_137852461

6 SubmittersRCV000011028 RCV000851846 RCV003147281

NM_000132.4(F8):c.6515C>A (p.Pro2172Gln)

SNV
Germline

ChrX:154863142

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255209

rs_137852462

1 SubmittersRCV000011029

NM_000132.4(F8):c.6518C>T (p.Thr2173Ile)

SNV
Germline

ChrX:154863139

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255210

rs_137852463

1 SubmittersRCV000011030

NM_000132.4(F8):c.6532C>T (p.Arg2178Cys)

SNV
Germline

ChrX:154863125

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255211

rs_137852464

5 SubmittersRCV000011031 RCV003103985

NM_000132.4(F8):c.6533G>A (p.Arg2178His)

SNV
Germline

ChrX:154863124

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255212

rs_137852465

4 SubmittersRCV000011032 RCV000852179 RCV003114184

NM_000132.4(F8):c.6545G>A (p.Arg2182His)

SNV
Germline

ChrX:154863112

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255213

rs_137852466

4 SubmittersRCV000011033

NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)

SNV
Germline

ChrX:154863113

Pathogenic

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA255214

rs_137852467

3 SubmittersRCV000011034 RCV002247323

NM_000132.4(F8):c.6631G>C (p.Ala2211Pro)

SNV
Germline

ChrX:154861810

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255215

rs_137852468

1 SubmittersRCV000011035

NM_000132.4(F8):c.6683G>T (p.Arg2228Leu)

SNV
Germline

ChrX:154861758

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA340964

rs_137852358

1 SubmittersRCV000011037

NM_000132.4(F8):c.6682C>G (p.Arg2228Gly)

SNV
Germline

ChrX:154861759

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255216

rs_137852355

1 SubmittersRCV000011038

NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)

SNV
Germline

ChrX:154860588

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Reviewed By Expert Panel

CA255218

rs_137852469

4 SubmittersRCV000011040 RCV000851849 RCV003114185

NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)

SNV
Germline

ChrX:154860538

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

No Assertion Criteria Provided

CA255219

rs_137852470

3 SubmittersRCV000011041 RCV001701638

NM_000132.4(F8):c.6865C>T (p.Gln2289Ter)

SNV
Germline

ChrX:154860467

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255221

rs_137852471

1 SubmittersRCV000011043

NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)

SNV
Germline

ChrX:154837697

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255224

rs_137852472

5 SubmittersRCV000011045 RCV000851613 RCV001701721

NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)

SNV
Germline

ChrX:154837686

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255225

rs_137852473

4 SubmittersRCV000011046

NM_000132.4(F8):c.6968G>A (p.Arg2323His)

SNV
Germline

ChrX:154837685

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255226

rs_137852474

1 SubmittersRCV000011047

NM_000132.4(F8):c.592T>G (p.Cys198Gly)

SNV
Germline

ChrX:154992945

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA255227

rs_137852475

2 SubmittersRCV000011064

NM_000132.4(F8):c.104A>G (p.Tyr35Cys)

SNV
Germline

ChrX:155022449

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

CA255228

rs_137852476

1 SubmittersRCV000011065

NM_000133.4(F9):c.224G>A (p.Arg75Gln)

SNV
Germline

ChrX:139537145

Pathogenic/Likely pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Condition: not provided
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease
Warfarin sensitivity, X-linked
Thrombophilia, X-linked, due to factor 9 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA255318

rs_137852228

7 SubmittersRCV000011319 RCV000852079 RCV000757260 RCV001851790 RCV002490353

NM_000133.4(F9):c.572G>A (p.Arg191His)

SNV
Germline

ChrX:139551113

Pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Condition: not provided

Reviewed By Expert Panel

CA255342

rs_137852238

8 SubmittersRCV000011331 RCV000851602 RCV001390296 RCV002247326 RCV002284168

NM_000133.4(F9):c.881G>A (p.Arg294Gln)

SNV
Germline

ChrX:139561566

Pathogenic

Hereditary factor IX deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255368

rs_137852249

9 SubmittersRCV000011348 RCV000814168 RCV000851909

NM_000133.4(F9):c.1025C>T (p.Thr342Met)

SNV
Germline

ChrX:139561710

Pathogenic

Hereditary factor IX deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor VIII deficiency disease
Condition: not provided

Reviewed By Expert Panel

CA255381

rs_137852254

10 SubmittersRCV000011353 RCV000792734 RCV000851963 RCV001810849

NM_000133.4(F9):c.1069G>A (p.Gly357Arg)

SNV
Germline

ChrX:139561754

Pathogenic/Likely pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

CA255389

rs_137852257

3 SubmittersRCV000011357 RCV000851648

NM_000133.4(F9):c.1136G>A (p.Arg379Gln)

SNV
Germline

ChrX:139561821

Pathogenic

Hereditary factor IX deficiency disease
not specified
Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect

Criteria Provided
Multiple Submitters
No Conflicts

CA255394

rs_137852259

5 SubmittersRCV000011359 RCV001000156 RCV000851995 RCV001851792

NM_000133.4(F9):c.835G>A (p.Ala279Thr)

SNV
Germline

ChrX:139560852

Pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Abnormality of coagulation
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease
Condition: not provided

Reviewed By Expert Panel

CA277507

rs_137852247

8 SubmittersRCV000197147 RCV000851896 RCV000851897 RCV001378167 RCV001781582

NM_000132.4(F8):c.6724G>A (p.Val2242Met)

SNV
Germline

ChrX:154860608

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

CA10567761

rs_782654096

2 SubmittersRCV000490278

NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)

SNV
Germline

ChrX:154861818

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
See cases
F8-related disorder

Criteria Provided
Conflicting Classifications

CA10567784

rs_782198570

4 SubmittersRCV000403190 RCV002252106 RCV003392221

NM_000132.4(F8):c.3144G>A (p.Trp1048Ter)

SNV
Germline

ChrX:154930646

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

CA16609557

rs_1060499784

1 SubmittersRCV000454124

NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)

SNV
Germline

ChrX:154902077

Pathogenic/Likely pathogenic

Hereditary factor IX deficiency disease
Inborn genetic diseases
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10567911

rs_369414658

8 SubmittersRCV000851606 RCV001267618 RCV001803794 RCV002248743 RCV002476015 RCV003103799

NM_000132.4(F8):c.1569G>T (p.Leu523=)

SNV
Germline

ChrX:154957140

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10568430

rs_782733685

5 SubmittersRCV003147490 RCV003103798

NM_000132.4(F8):c.599A>G (p.Glu200Gly)

SNV
Germline

ChrX:154992938

Pathogenic

Condition: not provided
Abnormality of coagulation
Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA10568575

rs_782158761

4 SubmittersRCV000519065 RCV000851605 RCV003403227

NM_000132.4(F8):c.1748A>G (p.Asn583Ser)

SNV
Germline

ChrX:154956961

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

CA10568415

rs_782657516

2 SubmittersRCV000578443

NM_000132.4(F8):c.2044G>T (p.Val682Phe)

SNV
Germline

ChrX:154947767

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1569559755

1 SubmittersRCV000723273

NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)

SNV
Germline

ChrX:154903950

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1490417405

6 SubmittersRCV000756107 RCV000852168 RCV001700302

NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)

SNV
Germline

ChrX:154966603

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided
not specified

Reviewed By Expert Panel

rs_375241473

7 SubmittersRCV001093532 RCV000851582 RCV003103835 RCV003489854

NM_000133.4(F9):c.88G>C (p.Val30Leu)

SNV
Unknown

ChrX:139530852

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603263395

1 SubmittersRCV000852238

NM_000133.4(F9):c.407T>C (p.Ile136Thr)

SNV
Unknown

ChrX:139548378

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603265481

1 SubmittersRCV000851938

NM_000133.4(F9):c.757G>A (p.Gly253Arg)

SNV
Unknown

ChrX:139560774

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603267181

1 SubmittersRCV000851869

NM_000133.4(F9):c.802T>A (p.Cys268Ser)

SNV
Unknown

ChrX:139560819

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603267194

1 SubmittersRCV000851893

NM_000133.4(F9):c.845A>G (p.His282Arg)

SNV
Unknown

ChrX:139561530

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_753654616

1 SubmittersRCV000851898

NM_000133.4(F9):c.1009G>A (p.Ala337Thr)

SNV
Germline

ChrX:139561694

Pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease

Reviewed By Expert Panel

rs_137852253

2 SubmittersRCV000851629 RCV004577530

NM_000133.4(F9):c.1106T>C (p.Leu369Pro)

SNV
Germline

ChrX:139561791

Likely pathogenic

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603267393

2 SubmittersRCV000851659 RCV001378168

NM_000133.4(F9):c.1345C>T (p.Arg449Trp)

SNV
Germline

ChrX:139562030

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Condition: not provided
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
not specified

Criteria Provided
Conflicting Classifications

rs_757996262

6 SubmittersRCV000851683 RCV001655593 RCV001811478 RCV002249470 RCV002533972 RCV003230584

NM_000133.4(F9):c.*1157A>G

SNV
Germline

ChrX:139563228

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1317977313

4 SubmittersRCV000851959 RCV003322818 RCV003768318

NM_000132.4(F8):c.6932C>A (p.Pro2311His)

SNV
Germline

ChrX:154837721

Likely pathogenic

Abnormality of coagulation
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1047644991

2 SubmittersRCV000851860 RCV001803975

NM_000132.4(F8):c.6547A>G (p.Met2183Val)

SNV
Germline

ChrX:154863110

Pathogenic/Likely pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_781797728

4 SubmittersRCV000851608 RCV001286233 RCV001310761

NM_000132.4(F8):c.6104T>C (p.Val2035Ala)

SNV
Germline

ChrX:154902062

Pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603432906

3 SubmittersRCV000852173 RCV001803976

NM_000132.4(F8):c.5303G>A (p.Arg1768His)

SNV
Germline

ChrX:154906490

Pathogenic

Abnormal bleeding
Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

rs_151202877

2 SubmittersRCV000852151 RCV003509601

NM_000132.4(F8):c.1804C>G (p.Arg602Gly)

SNV
Germline

ChrX:154953991

Pathogenic/Likely pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_137852424

3 SubmittersRCV000852053 RCV001249714

NM_000132.4(F8):c.1700T>C (p.Ile567Thr)

SNV
Germline

ChrX:154957009

Likely pathogenic

Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_782193428

2 SubmittersRCV000851714 RCV003994110

NM_000132.4(F8):c.979C>G (p.Leu327Val)

SNV
Germline

ChrX:154969361

Pathogenic

Hereditary factor IX deficiency disease
F8-related disorder
Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

rs_1603435395

4 SubmittersRCV000851921 RCV003396339 RCV003235389

NM_000133.4(F9):c.88+1G>A

SNV
Unknown

ChrX:139530853

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603263397

1 SubmittersRCV000851907

NM_000133.4(F9):c.88+5G>T

SNV
Unknown

ChrX:139530857

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603263401

1 SubmittersRCV000851908

NM_000133.4(F9):c.520+13A>G

SNV
Germline

ChrX:139548504

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Hereditary factor IX deficiency disease
Thrombophilia, X-linked, due to factor 9 defect
Hereditary factor IX deficiency disease

Criteria Provided
Conflicting Classifications

rs_1603265507

3 SubmittersRCV000851944 RCV001869074 RCV002245651

NM_000132.4(F8):c.984T>G (p.Phe328Leu)

SNV
Germline

ChrX:154969356

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_782668199

2 SubmittersRCV000825507

NM_000132.4(F8):c.6301C>G (p.His2101Asp)

SNV
Germline

ChrX:154896205

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603432783

2 SubmittersRCV000991020

NM_000132.4(F8):c.1468A>G (p.Arg490Gly)

SNV
Germline

ChrX:154961144

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_1603435026

2 SubmittersRCV000991026

NM_000132.4(F8):c.605G>A (p.Ser202Asn)

SNV
Unknown

ChrX:154987302

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603436218

1 SubmittersRCV000991027

NM_000132.4(F8):c.1835G>T (p.Arg612Leu)

SNV
Germline

ChrX:154953960

Likely pathogenic

Condition: not provided
Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_782473762

2 SubmittersRCV000996082 RCV002245829

NM_000132.4(F8):c.6638C>T (p.Ser2213Phe)

SNV
Germline

ChrX:154861803

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603431511

1 SubmittersRCV001001039

NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)

SNV
Germline

ChrX:154861819

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1472169963

3 SubmittersRCV001000941 RCV002481798 RCV003480899

NM_000132.4(F8):c.6296T>A (p.Ile2099Asn)

SNV
Germline

ChrX:154896210

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603432784

1 SubmittersRCV001002040

NM_000132.4(F8):c.5999G>T (p.Gly2000Val)

SNV
Germline

ChrX:154902167

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603432913

1 SubmittersRCV001000840

NM_000132.4(F8):c.5815G>C (p.Ala1939Pro)

SNV
Germline

ChrX:154904296

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_1603432979

2 SubmittersRCV001002198

NM_000132.4(F8):c.5527G>A (p.Ala1843Thr)

SNV
Germline

ChrX:154904870

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603432996

1 SubmittersRCV001002324

NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter)

SNV
Germline

ChrX:154906492

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_782763245

1 SubmittersRCV001002494

NM_000132.4(F8):c.4870G>T (p.Glu1624Ter)

SNV
Germline

ChrX:154928920

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603433733

1 SubmittersRCV001001170

NM_000132.4(F8):c.2150G>A (p.Arg717Gln)

SNV
Germline

ChrX:154931640

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_942909873

5 SubmittersRCV001000480 RCV002249609 RCV002479189 RCV003656150

NM_000132.4(F8):c.1538-18G>A

SNV
Germline

ChrX:154957189

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1482306571

2 SubmittersRCV001001162

NM_000132.4(F8):c.1444-3C>G

SNV
Germline

ChrX:154961171

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603435027

1 SubmittersRCV001001168

NM_000132.4(F8):c.1443+5G>A

SNV
Germline

ChrX:154965965

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1195283929

1 SubmittersRCV001002370

NM_000132.4(F8):c.1271+1G>A

SNV
Germline

ChrX:154966425

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603435260

1 SubmittersRCV001001991

NM_000132.4(F8):c.748A>G (p.Met250Val)

SNV
Germline

ChrX:154984726

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_781943293

2 SubmittersRCV001002350

NM_000132.4(F8):c.606T>G (p.Ser202Arg)

SNV
Germline

ChrX:154987301

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603436217

1 SubmittersRCV001001316

NM_000132.4(F8):c.601G>A (p.Gly201Arg)

SNV
Germline

ChrX:154992936

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1229954426

1 SubmittersRCV001000703

NM_000132.4(F8):c.382T>C (p.Ser128Pro)

SNV
Germline

ChrX:154996979

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603436638

1 SubmittersRCV001002229

NM_000132.4(F8):c.377A>G (p.Lys126Arg)

SNV
Germline

ChrX:154996984

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603436639

1 SubmittersRCV001000773

NM_000132.4(F8):c.302A>G (p.Asp101Gly)

SNV
Germline

ChrX:154997059

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1312347909

1 SubmittersRCV001002670

NM_000132.4(F8):c.219C>G (p.Phe73Leu)

SNV
Germline

ChrX:154999525

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603436770

2 SubmittersRCV001001056 RCV003147573

NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)

SNV
Germline

ChrX:154837724

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_373079141

2 SubmittersRCV001168451

NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)

SNV
Germline

ChrX:154896202

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200433372

5 SubmittersRCV001169186 RCV002249750 RCV003992455

NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)

SNV
Germline

ChrX:154928727

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782235155

2 SubmittersRCV001169187 RCV003311954

NM_000132.4(F8):c.2887G>A (p.Asp963Asn)

SNV
Germline

ChrX:154930903

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199660138

3 SubmittersRCV001166796 RCV002249747 RCV003737015

NM_000132.4(F8):c.2696G>A (p.Ser899Asn)

SNV
Germline

ChrX:154931094

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145089334

3 SubmittersRCV001166797 RCV003163367 RCV003438701

NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)

SNV
Germline

ChrX:154931578

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201721215

2 SubmittersRCV001166800 RCV002558637

NM_000132.4(F8):c.989A>G (p.His330Arg)

SNV
Germline

ChrX:154969351

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
not specified

Criteria Provided
Conflicting Classifications

rs_782498015

2 SubmittersRCV001168511 RCV003235482

NM_000132.4(F8):c.5587-93C>T

SNV
Germline

ChrX:154904617

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1264918703

6 SubmittersRCV001195277 RCV001552989

NM_000132.4(F8):c.6868T>C (p.Trp2290Arg)

SNV
Germline

ChrX:154860464

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2072681848

1 SubmittersRCV001265085

NM_000132.4(F8):c.6812T>C (p.Leu2271Pro)

SNV
Germline

ChrX:154860520

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2072682503

1 SubmittersRCV001265087

NM_000132.4(F8):c.6713G>A (p.Trp2238Ter)

SNV
Germline

ChrX:154861728

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1377166595

1 SubmittersRCV001265081

NM_000132.4(F8):c.6679G>A (p.Ala2227Thr)

SNV
Germline

ChrX:154861762

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1342196860

3 SubmittersRCV001265079 RCV003738025

NM_000132.4(F8):c.6355C>T (p.Gln2119Ter)

SNV
Germline

ChrX:154896151

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2072977865

1 SubmittersRCV001265086

NM_000132.4(F8):c.6319G>A (p.Gly2107Ser)

SNV
Germline

ChrX:154896187

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1267586059

1 SubmittersRCV001265083

NM_000132.4(F8):c.4024G>T (p.Glu1342Ter)

SNV
Germline

ChrX:154929766

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073182544

1 SubmittersRCV001265093

NM_000132.4(F8):c.2627T>A (p.Leu876Ter)

SNV
Germline

ChrX:154931163

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073195449

1 SubmittersRCV001265095

NM_000132.4(F8):c.1812G>A (p.Trp604Ter)

SNV
Germline

ChrX:154953983

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_137852426

1 SubmittersRCV001265088

NM_000132.4(F8):c.1784T>C (p.Phe595Ser)

SNV
Germline

ChrX:154954011

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073351165

1 SubmittersRCV001265091

NM_000132.4(F8):c.5587-2A>G

SNV
Germline

ChrX:154904526

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073027912

1 SubmittersRCV001265082

NM_000132.4(F8):c.788-1G>C

SNV
Germline

ChrX:154969553

Pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073445259

2 SubmittersRCV001265089

NM_000132.4(F8):c.7021G>A (p.Glu2341Lys)

SNV
Germline

ChrX:154837632

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2072484280

1 SubmittersRCV001286176

NM_000132.4(F8):c.6995G>A (p.Trp2332Ter)

SNV
Germline

ChrX:154837658

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2072484506

1 SubmittersRCV001285944

NM_000132.4(F8):c.6719C>T (p.Pro2240Leu)

SNV
Germline

ChrX:154861722

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1174359623

1 SubmittersRCV001286914

NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)

SNV
Germline

ChrX:154861744

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2072692745

1 SubmittersRCV001289767

NM_000132.4(F8):c.6043T>C (p.Trp2015Arg)

SNV
Germline

ChrX:154902123

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073013277

1 SubmittersRCV001286318

NM_000132.4(F8):c.5875A>T (p.Ile1959Phe)

SNV
Germline

ChrX:154904029

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1411617809

1 SubmittersRCV001284775

NM_000132.4(F8):c.5813A>G (p.His1938Arg)

SNV
Germline

ChrX:154904298

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603432981

2 SubmittersRCV001285457 RCV003481053

NM_000132.4(F8):c.5219+1G>A

SNV
Germline

ChrX:154928570

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1280131174

1 SubmittersRCV001285631

NM_000132.4(F8):c.5093T>C (p.Ile1698Thr)

SNV
Germline

ChrX:154928697

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073173387

1 SubmittersRCV001285498

NM_000132.4(F8):c.4636C>T (p.Gln1546Ter)

SNV
Germline

ChrX:154929154

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073177296

1 SubmittersRCV001286783

NM_000132.4(F8):c.2440C>T (p.Arg814Ter)

SNV
Germline

ChrX:154931350

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

rs_137852437

3 SubmittersRCV001285250 RCV001703091

NM_000132.4(F8):c.1825A>C (p.Asn609His)

SNV
Germline

ChrX:154953970

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073350730

1 SubmittersRCV001287862

NM_000132.4(F8):c.1504G>T (p.Val502Phe)

SNV
Germline

ChrX:154961108

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073393106

1 SubmittersRCV001287809

NM_000132.4(F8):c.1202G>A (p.Trp401Ter)

SNV
Germline

ChrX:154966495

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073424782

1 SubmittersRCV001285586

NM_000132.4(F8):c.992T>C (p.Ile331Thr)

SNV
Germline

ChrX:154969348

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073442480

1 SubmittersRCV001286934

NM_000132.4(F8):c.640T>G (p.Phe214Val)

SNV
Germline

ChrX:154987267

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073563995

1 SubmittersRCV001286245

NM_000132.4(F8):c.403G>T (p.Asp135Tyr)

SNV
Germline

ChrX:154993134

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073597882

1 SubmittersRCV001285215

NM_000132.4(F8):c.296T>C (p.Val99Ala)

SNV
Germline

ChrX:154997065

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_137852382

1 SubmittersRCV001285264

NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)

SNV
Germline

Chr16:88836232

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-IV-A
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Hereditary factor VIII deficiency disease
Morquio syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_772413313

4 SubmittersRCV001321220 RCV004545202 RCV004526837 RCV004579572

NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)

SNV
Germline

ChrX:154861783

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782548763

2 SubmittersRCV001330797 RCV001508070

NM_000132.4(F8):c.5816-2A>G

SNV
Germline

ChrX:154904090

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123996454

1 SubmittersRCV001420461

NM_000132.4(F8):c.3266C>A (p.Ser1089Ter)

SNV
Germline

ChrX:154930524

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073189135

1 SubmittersRCV001420466

NM_000132.4(F8):c.1018G>A (p.Glu340Lys)

SNV
Germline

ChrX:154966679

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary factor VIII deficiency disease
Thrombophilia, X-linked, due to factor 8 defect

Criteria Provided
Conflicting Classifications

rs_781954986

5 SubmittersRCV001508074 RCV002272475 RCV002246393

NM_000132.4(F8):c.5666A>G (p.Gln1889Arg)

SNV
Germline

ChrX:154904445

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123997081

1 SubmittersRCV001528189

NM_000132.4(F8):c.262A>G (p.Met88Val)

SNV
Germline

ChrX:154999482

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782731044

2 SubmittersRCV001528190 RCV002305613

NM_000132.4(F8):c.1910A>G (p.Asn637Ser)

SNV
Germline

ChrX:154947901

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073315379

5 SubmittersRCV001703070 RCV002243431

NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)

SNV
Germline

ChrX:154863214

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1321311878

3 SubmittersRCV001801319 RCV003120694

NM_000132.4(F8):c.755C>T (p.Thr252Ile)

SNV
Germline

ChrX:154984719

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1464962436

1 SubmittersRCV001803484

NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)

SNV
Germline

ChrX:154906485

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124000594

1 SubmittersRCV001803531

NM_000132.4(F8):c.5219G>T (p.Arg1740Met)

SNV
Germline

ChrX:154928571

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1444273117

1 SubmittersRCV001803547

NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)

SNV
Germline

ChrX:154961127

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124099224

1 SubmittersRCV001803593

NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)

SNV
Germline

ChrX:154863107

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2148568062

1 SubmittersRCV001803603

NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)

SNV
Germline

ChrX:154906458

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1168919288

1 SubmittersRCV001803671

NM_000132.4(F8):c.787+5G>C

SNV
Germline

ChrX:154984682

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1378662017

1 SubmittersRCV001802253

NM_000132.4(F8):c.760A>G (p.Asn254Asp)

SNV
Germline

ChrX:154984714

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124131338

1 SubmittersRCV001802265

NM_000132.4(F8):c.6696A>G (p.Gln2232=)

SNV
Germline

ChrX:154861745

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201870876

2 SubmittersRCV001802277 RCV003355550

NM_000132.4(F8):c.2048A>G (p.Tyr683Cys)

SNV
Germline

ChrX:154947763

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1384374956

2 SubmittersRCV001802297

NM_000132.4(F8):c.665A>C (p.Asp222Ala)

SNV
Germline

ChrX:154987242

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_137852396

1 SubmittersRCV001802300

NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)

SNV
Germline

ChrX:154837694

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2148555597

1 SubmittersRCV001802326

NM_000132.4(F8):c.6273G>A (p.Lys2091=)

SNV
Germline

ChrX:154899866

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2148584915

1 SubmittersRCV001802350

NM_000132.4(F8):c.5999-2A>C

SNV
Germline

ChrX:154902169

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123994187

1 SubmittersRCV001802368

NM_000132.4(F8):c.286C>T (p.Gln96Ter)

SNV
Germline

ChrX:154997075

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124146053

1 SubmittersRCV001802391

NM_000132.4(F8):c.388+1G>A

SNV
Germline

ChrX:154996972

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1377354928

1 SubmittersRCV001802414

NM_000132.4(F8):c.2902G>T (p.Glu968Ter)

SNV
Germline

ChrX:154930888

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_782176982

1 SubmittersRCV001802436

NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)

SNV
Germline

ChrX:154901440

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123993603

1 SubmittersRCV001802450

NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)

SNV
Germline

ChrX:154904948

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123997982

1 SubmittersRCV001802479

NM_000132.4(F8):c.2101A>G (p.Met701Val)

SNV
Germline

ChrX:154947710

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073313804

1 SubmittersRCV001802513

NM_000132.4(F8):c.2162T>C (p.Met721Thr)

SNV
Germline

ChrX:154931628

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1314906579

1 SubmittersRCV001802530

NM_000132.4(F8):c.55A>C (p.Ser19Arg)

SNV
Germline

ChrX:155022498

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124174458

1 SubmittersRCV001802542

NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)

SNV
Germline

ChrX:154861848

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2148567338

1 SubmittersRCV001802551

NM_000132.4(F8):c.650T>G (p.Leu217Arg)

SNV
Germline

ChrX:154987257

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124134359

1 SubmittersRCV001802555

NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)

SNV
Germline

ChrX:154929032

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124048012

1 SubmittersRCV001802578

NM_000132.4(F8):c.1316G>T (p.Gly439Val)

SNV
Germline

ChrX:154966097

Pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1362305882

2 SubmittersRCV003987908 RCV003657337

NM_000132.4(F8):c.1481T>G (p.Ile494Ser)

SNV
Germline

ChrX:154961131

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_137852413

1 SubmittersRCV001802583

NM_000132.4(F8):c.74A>G (p.Tyr25Cys)

SNV
Germline

ChrX:155022479

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124174443

1 SubmittersRCV001802616

NM_000132.4(F8):c.1430G>T (p.Gly477Val)

SNV
Germline

ChrX:154965983

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124105158

1 SubmittersRCV001802699

NM_000132.4(F8):c.650T>C (p.Leu217Pro)

SNV
Germline

ChrX:154987257

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124134359

1 SubmittersRCV001802744

NM_000132.4(F8):c.1169T>C (p.Ile390Thr)

SNV
Germline

ChrX:154966528

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124106062

1 SubmittersRCV001838833

NM_000132.4(F8):c.5506T>C (p.Trp1836Arg)

SNV
Germline

ChrX:154904891

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073029867

1 SubmittersRCV002222140

NM_000132.4(F8):c.1930T>G (p.Leu644Val)

SNV
Unknown

ChrX:154947881

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124082414

1 SubmittersRCV002223107

NM_000132.4(F8):c.2150G>T (p.Arg717Leu)

SNV
Germline

ChrX:154931640

Conflicting classifications of pathogenicity

Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_942909873

2 SubmittersRCV002223108

NM_000132.4(F8):c.853G>A (p.Val285Met)

SNV
Germline

ChrX:154969487

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073444412

1 SubmittersRCV002227328

NM_000132.4(F8):c.1696C>T (p.Leu566Phe)

SNV
Germline

ChrX:154957013

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124094420

1 SubmittersRCV002227385

NM_000132.4(F8):c.901C>T (p.Arg301Cys)

SNV
Unknown

ChrX:154969439

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1401805753

1 SubmittersRCV002245382

NM_000132.4(F8):c.6968G>C (p.Arg2323Pro)

SNV
Unknown

ChrX:154837685

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_137852474

1 SubmittersRCV002245383

NM_000132.4(F8):c.6617A>G (p.Asp2206Gly)

SNV
Unknown

ChrX:154861824

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2072694107

1 SubmittersRCV002245384

NM_000132.4(F8):c.6047G>A (p.Arg2016Gln)

SNV
Germline

ChrX:154902119

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Single Submitter

rs_1444225681

2 SubmittersRCV002245385 RCV003886572

NM_000132.4(F8):c.509C>T (p.Pro170Leu)

SNV
Unknown

ChrX:154993028

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2124140933

1 SubmittersRCV002245387

NM_000132.4(F8):c.460A>G (p.Thr154Ala)

SNV
Germline

ChrX:154993077

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_1603436436

1 SubmittersRCV002245389

NM_000132.4(F8):c.308T>C (p.Val103Ala)

SNV
Unknown

ChrX:154997053

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

rs_2073621465

1 SubmittersRCV002245390

NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)

SNV
Germline

ChrX:154837702

Conflicting classifications of pathogenicity

Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_782799573

2 SubmittersRCV002249948 RCV004577012

NM_000132.4(F8):c.5999-11G>A

SNV
Germline

ChrX:154902178

Conflicting classifications of pathogenicity

Thrombophilia, X-linked, due to factor 8 defect
Condition: not provided
Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_782132907

3 SubmittersRCV002249951 RCV003120851 RCV003228807

NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)

SNV
Germline

ChrX:154928646

Conflicting classifications of pathogenicity

Thrombophilia, X-linked, due to factor 8 defect
not specified
Condition: not provided
Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_781876217

4 SubmittersRCV002249957 RCV003403750 RCV003738163 RCV004017909

NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)

SNV
Germline

ChrX:154928962

Conflicting classifications of pathogenicity

Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_782127226

2 SubmittersRCV002249958 RCV002471263

NM_000132.4(F8):c.2840C>G (p.Pro947Arg)

SNV
Germline

ChrX:154930950

Conflicting classifications of pathogenicity

Thrombophilia, X-linked, due to factor 8 defect
Hereditary factor VIII deficiency disease

Criteria Provided
Conflicting Classifications

rs_782318401

2 SubmittersRCV002249964 RCV002471264

NM_000132.4(F8):c.5999G>C (p.Gly2000Ala)

SNV
Germline

ChrX:154902167

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1603432913

1 SubmittersRCV002272597

NM_000132.4(F8):c.671-1G>A

SNV
Germline

ChrX:154984804

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1255271151

1 SubmittersRCV002272637

NM_000132.4(F8):c.5855T>A (p.Val1952Glu)

SNV
Germline

ChrX:154904049

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123996355

1 SubmittersRCV002272639

NM_000132.4(F8):c.967G>A (p.Gly323Arg)

SNV
Germline

ChrX:154969373

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124109849

1 SubmittersRCV002272640

NM_000132.4(F8):c.1443+2T>G

SNV
Germline

ChrX:154965968

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2073420861

1 SubmittersRCV002272643

NM_000132.4(F8):c.1203G>A (p.Trp401Ter)

SNV
Germline

ChrX:154966494

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2124106016

1 SubmittersRCV002272676

NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)

SNV
Germline

ChrX:154906491

Pathogenic/Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1046670041

2 SubmittersRCV002272720

NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr)

SNV
Germline

ChrX:154901439

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_2123993600

1 SubmittersRCV002272788

NM_000132.4(F8):c.2163G>T (p.Met721Ile)

SNV
Germline

ChrX:154931627

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

rs_1218576358

1 SubmittersRCV002273142

NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)

SNV
Germline

ChrX:154904021

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002281005

NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)

SNV
Germline

ChrX:154929718

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002281635

NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)

SNV
Germline

ChrX:154896131

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002283781

NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)

SNV
Germline

ChrX:154904051

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466796

NM_000132.4(F8):c.1907T>C (p.Ile636Thr)

SNV
Germline

ChrX:154947904

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466803

NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)

SNV
Germline

ChrX:154904051

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466889

NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)

SNV
Germline

ChrX:154899866

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466910

NM_000132.4(F8):c.557A>G (p.Asp186Gly)

SNV
Germline

ChrX:154992980

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466915

NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)

SNV
Germline

ChrX:154902114

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002466945

NM_000132.4(F8):c.335C>T (p.Ser112Phe)

SNV
Germline

ChrX:154997026

Likely pathogenic

Hereditary factor VIII deficiency disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466954 RCV003738280

NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)

SNV
Germline

Chr10:71778222

Likely pathogenic

Condition: not provided
Pituitary adenoma 5, multiple types
Hereditary factor VIII deficiency disease
Usher syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003062274 RCV003475493 RCV004526222 RCV004579587

NM_000132.4(F8):c.2045T>C (p.Val682Ala)

SNV
Unknown

ChrX:154947766

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV002795924

NM_000132.4(F8):c.6115+2T>C

SNV
Unknown

ChrX:154902049

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003152909

NM_000132.4(F8):c.6900+1G>C

SNV
Unknown

ChrX:154860431

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003152975

NM_000132.4(F8):c.5586+2T>C

SNV
Unknown

ChrX:154904809

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003152982

NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)

SNV
Unknown

ChrX:154906503

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003153049

NM_000132.4(F8):c.6274-2A>G

SNV
Unknown

ChrX:154896234

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003153065

NM_000132.4(F8):c.2043G>A (p.Met681Ile)

SNV
Unknown

ChrX:154947768

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003153227

NM_000132.4(F8):c.683A>C (p.His228Pro)

SNV
Germline

ChrX:154984791

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003327330

NM_000132.4(F8):c.1904-2A>G

SNV
Germline

ChrX:154947909

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003388689

NM_000132.4(F8):c.1405G>T (p.Gly469Ter)

SNV
Germline

ChrX:154966008

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003388752

NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)

SNV
Germline

ChrX:154863152

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003405132

NM_000132.4(F8):c.836T>G (p.Met279Arg)

SNV
Germline

ChrX:154969504

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003405199

NM_000132.4(F8):c.2717C>G (p.Ser906Ter)

SNV
Germline

ChrX:154931073

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003405200

NM_000132.4(F8):c.745A>T (p.Lys249Ter)

SNV
Germline

ChrX:154984729

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003405201

NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)

SNV
Germline

ChrX:154896181

Likely pathogenic

Hereditary factor VIII deficiency disease

No Assertion Criteria Provided

1 SubmittersRCV003444533

NM_000132.4(F8):c.6710C>T (p.Ala2237Val)

SNV
Germline

ChrX:154861731

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003447792

NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)

SNV
Germline

ChrX:154904836

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003479575

NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)

SNV
Germline

ChrX:154930653

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003479725

NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)

SNV
Germline

ChrX:154928689

Likely pathogenic

Condition: not provided
Hereditary factor VIII deficiency disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003480393 RCV003988123

NM_000132.4(F8):c.6821T>C (p.Met2274Thr)

SNV
Unknown

ChrX:154860511

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003484564

NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)

SNV
Unknown

ChrX:154863203

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003484565

NM_000132.4(F8):c.1899G>T (p.Met633Ile)

SNV
Germline

ChrX:154953896

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510972

NM_000132.4(F8):c.2087C>T (p.Thr696Ile)

SNV
Germline

ChrX:154947724

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510973

NM_000132.4(F8):c.1372C>T (p.Arg458Cys)

SNV
Germline

ChrX:154966041

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510974

NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)

SNV
Germline

ChrX:154904909

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510975

NM_000132.4(F8):c.686C>A (p.Ser229Ter)

SNV
Germline

ChrX:154984788

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510977

NM_000132.4(F8):c.6429+2T>A

SNV
Germline

ChrX:154896075

Pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV003510978

NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)

SNV
Unknown

ChrX:154906487

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003985710

NM_000132.4(F8):c.476T>A (p.Val159Asp)

SNV
Germline

ChrX:154993061

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003986024

NM_000132.4(F8):c.1658C>G (p.Ser553Cys)

SNV
Germline

ChrX:154957051

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003988311

NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)

SNV
Germline

ChrX:154930405

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003990267

NM_000132.4(F8):c.784C>G (p.Pro262Ala)

SNV
Germline

ChrX:154984690

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003992864

NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)

SNV
Germline

ChrX:154928572

Pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV003991908

NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)

SNV
Germline

ChrX:154906496

Likely pathogenic

Hereditary factor VIII deficiency disease

Criteria Provided
Single Submitter

1 SubmittersRCV004555777

NM_000132.4(F8):c.1244C>A (p.Ala415Asp)

SNV
Germline

ChrX:154966453

Likely pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV004577665

NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)

SNV
Germline

ChrX:154837638

Likely pathogenic

Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

1 SubmittersRCV004577666