Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)	SNV Germline	Chr1:169555300	Conflicting classifications of pathogenicity	Factor V Hong Kong Condition: not provided Thrombophilia due to activated protein C resistance Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA114381	rs_118203905	4 SubmittersRCV000000677 RCV001753395 RCV002269817 RCV003761734
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)	SNV Germline	Chr1:169555299	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA251546	rs_118203906	5 SubmittersRCV000000678 RCV006612197
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)	SNV Germline	Chr1:169530805	Pathogenic/Likely pathogenic	Factor V deficiency Congenital factor V deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251551	rs_118203907	4 SubmittersRCV000000683 RCV003595850 RCV004766973
NM_000130.5(F5):c.1601= (p.Arg534=)	SNV Germline	Chr1:169549811	Conflicting classifications of pathogenicity	Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_6025	5 SubmittersRCV000514863 RCV003761828
NM_000130.5(F5):c.5290A>G (p.Met1764Val)	SNV Germline	Chr1:169529737	Conflicting classifications of pathogenicity	not specified Thrombophilia due to activated protein C resistance Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233528	rs_6030	9 SubmittersRCV000252958 RCV000398818 RCV000994166 RCV003761855
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)	SNV Germline	Chr1:169542517	Conflicting classifications of pathogenicity	not specified Thrombophilia due to activated protein C resistance Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234067	rs_4524	9 SubmittersRCV000242831 RCV000351409 RCV000994174 RCV003761846
NM_000130.5(F5):c.5721T>C (p.Cys1907=)	SNV Germline	Chr1:169524904	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA10608168	rs_886045543	2 SubmittersRCV000261762 RCV000367162 RCV005419989 RCV006462369
NM_000130.5(F5):c.5589C>A (p.Pro1863=)	SNV Germline	Chr1:169527925	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Inborn genetic diseases Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233475	rs_148772659	3 SubmittersRCV000332303 RCV000326600 RCV003595911 RCV004021370 RCV005419990
NM_000130.5(F5):c.5490G>A (p.Leu1830=)	SNV Germline	Chr1:169528024	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Inborn genetic diseases Congenital factor V deficiency F5-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1233487	rs_149092241	5 SubmittersRCV000269860 RCV000275851 RCV005419993 RCV002348034 RCV003595913 RCV003949973 RCV005420499
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)	SNV Germline	Chr1:169530940	Conflicting classifications of pathogenicity	Factor V deficiency Condition: not provided Thrombocytopenia Abnormal bleeding Congenital factor V deficiency F5-related disorder Thrombophilia due to thrombin defect Budd-Chiari syndrome	Criteria Provided Conflicting Classifications	CA1233580	rs_6011	6 SubmittersRCV000388806 RCV000885722 RCV001270593 RCV003595915 RCV003967826 RCV005420001 RCV000364575
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)	SNV Germline	Chr1:169540685	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233700	rs_144262027	2 SubmittersRCV000390351 RCV000379582 RCV003595916 RCV005420006
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)	SNV Germline	Chr1:169541239	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Condition: not provided Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233810	rs_139573207	3 SubmittersRCV000318613 RCV000367480 RCV006439963 RCV003595918 RCV005420014
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)	SNV Germline	Chr1:169541648	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Ischemic stroke Pregnancy loss, recurrent, susceptibility to, 1 Congenital factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233909	rs_369276714	4 SubmittersRCV000265941 RCV000384835 RCV003761899 RCV005396910 RCV005420018 RCV006362230
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)	SNV Germline	Chr1:169542868	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Condition: not provided Congenital factor V deficiency F5-related disorder Factor V deficiency Inborn genetic diseases Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234128	rs_144979314	6 SubmittersRCV000319985 RCV002292439 RCV003761906 RCV003930208 RCV000373517 RCV002429244 RCV005420032
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)	SNV Germline	Chr1:169542872	Pathogenic/Likely pathogenic	Factor V deficiency Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10608192	rs_757953549	2 SubmittersRCV000284956 RCV003595925
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)	SNV Germline	Chr1:169555266	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect not specified	Criteria Provided Conflicting Classifications	CA1234449	rs_201078171	3 SubmittersRCV000311333 RCV000396625 RCV005208750 RCV005420042 RCV005230231
NM_000130.5(F5):c.885C>T (p.Thr295=)	SNV Germline	Chr1:169556713	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency F5-related disorder Thrombophilia due to thrombin defect Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234491	rs_148752831	4 SubmittersRCV000290504 RCV000347873 RCV003897666 RCV005420045 RCV005632356 RCV003595929
NM_000130.5(F5):c.6360G>A (p.Lys2120=)	SNV Germline	Chr1:169515612	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233237	rs_757104503	2 SubmittersRCV000266136 RCV000361958 RCV003761888 RCV005419985
NM_000130.5(F5):c.6309G>A (p.Leu2103=)	SNV Germline	Chr1:169518448	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Condition: not provided Congenital factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233268	rs_35369423	4 SubmittersRCV000330654 RCV000387460 RCV000961008 RCV003761889 RCV005419986 RCV002365337
NM_000130.5(F5):c.5788+4A>T	SNV Germline	Chr1:169524833	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233405	rs_759428783	2 SubmittersRCV000297071 RCV000405635 RCV003595910 RCV005419988
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)	SNV Germline	Chr1:169530870	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233571	rs_199568344	3 SubmittersRCV000264323 RCV000408149 RCV003352827 RCV003595914 RCV005420000
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)	SNV Germline	Chr1:169536642	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect Condition: not provided	Criteria Provided Conflicting Classifications	CA1233629	rs_141589936	3 SubmittersRCV000279353 RCV000375867 RCV003761895 RCV005420005 RCV006250279
NM_000130.5(F5):c.4035A>G (p.Gln1345=)	SNV Germline	Chr1:169541055	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect Condition: not provided	Criteria Provided Conflicting Classifications	CA10608311	rs_886045547	3 SubmittersRCV000359340 RCV000381298 RCV003595917 RCV005420012 RCV006263841
NM_000130.5(F5):c.2868T>C (p.Tyr956=)	SNV Germline	Chr1:169542222	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Condition: not provided Congenital factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1234018	rs_149067268	4 SubmittersRCV000291609 RCV000346494 RCV000921574 RCV003595924 RCV005420028 RCV005338134
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)	SNV Germline	Chr1:169542226	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Condition: not provided Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234019	rs_199507543	4 SubmittersRCV000319057 RCV000392785 RCV001753749 RCV002436131 RCV003761903 RCV005420029
NM_000130.5(F5):c.738A>G (p.Thr246=)	SNV Germline	Chr1:169556860	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234517	rs_375739973	2 SubmittersRCV000304922 RCV000400390 RCV003761910 RCV005420046
NM_000130.5(F5):c.111T>A (p.Ala37=)	SNV Germline	Chr1:169586276	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234737	rs_537081933	2 SubmittersRCV000350402 RCV000395796 RCV003761913 RCV005420053
NM_000130.5(F5):c.5419+11C>G	SNV Germline	Chr1:169529597	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233509	rs_6008	2 SubmittersRCV000274341 RCV000355384 RCV003761892 RCV005419996
NM_000130.5(F5):c.4972-14A>C	SNV Germline	Chr1:169531036	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233597	rs_763080313	2 SubmittersRCV000343414 RCV000391096 RCV003761894 RCV005420003
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)	SNV Germline	Chr1:169540757	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Inborn genetic diseases Congenital factor V deficiency Condition: not provided Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233716	rs_200204656	4 SubmittersRCV000368602 RCV000393067 RCV002328794 RCV003761896 RCV004720742 RCV005420008
NM_000130.5(F5):c.3801T>C (p.Leu1267=)	SNV Germline	Chr1:169541289	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233826	rs_559683767	2 SubmittersRCV000340651 RCV000401577 RCV003595919 RCV005420015
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)	SNV Germline	Chr1:169541688	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases F5-related disorder	Criteria Provided Conflicting Classifications	CA1233917	rs_373880789	4 SubmittersRCV000300358 RCV000402033 RCV003595921 RCV005420020 RCV002450839 RCV003949974
NM_000130.5(F5):c.3255A>C (p.Thr1085=)	SNV Germline	Chr1:169541835	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233942	rs_6006	2 SubmittersRCV000307720 RCV000398388 RCV003761901 RCV005420024
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)	SNV Germline	Chr1:169541879	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233952	rs_146408488	2 SubmittersRCV000273413 RCV000368409 RCV005420025 RCV003595922
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)	SNV Germline	Chr1:169550645	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect Primary familial hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA1234328	rs_141768227	3 SubmittersRCV000280173 RCV000372138 RCV003595927 RCV005420039 RCV006272138
NM_000130.5(F5):c.1300G>A (p.Val434Met)	SNV Germline	Chr1:169550736	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234357	rs_574610215	3 SubmittersRCV000274427 RCV000313059 RCV002379158 RCV003761909 RCV005420040
NM_000130.5(F5):c.524A>G (p.His175Arg)	SNV Germline	Chr1:169560616	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Condition: not provided Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234592	rs_201510575	4 SubmittersRCV000317190 RCV000353339 RCV000521560 RCV003595930 RCV005420049
NM_000130.5(F5):c.1785G>A (p.Glu595=)	SNV Germline	Chr1:169544486	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234227	rs_112333778	2 SubmittersRCV000267085 RCV000324528 RCV003595926 RCV005420034
NM_000130.5(F5):c.1545C>T (p.Ile515=)	SNV Germline	Chr1:169549867	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA10608726	rs_886045551	2 SubmittersRCV000330445 RCV000365132 RCV003761907 RCV005420037
NM_000130.5(F5):c.165T>C (p.Asn55=)	SNV Germline	Chr1:169582516	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234703	rs_781434840	2 SubmittersRCV000322657 RCV000338860 RCV003595931 RCV005420051
NM_000130.5(F5):c.1106C>T (p.Ala369Val)	SNV Germline	Chr1:169555194	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Gastric cancer Thrombophilia due to thrombin defect Condition: not provided	Criteria Provided Conflicting Classifications	CA1234440	rs_200934105	5 SubmittersRCV000284754 RCV000380295 RCV003595928 RCV005891516 RCV005420041 RCV000994182
NM_000130.5(F5):c.996A>C (p.Lys332Asn)	SNV Germline	Chr1:169555304	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Inborn genetic diseases Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234456	rs_143509841	3 SubmittersRCV000690207 RCV001099512 RCV003596500 RCV004025044 RCV005420228
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)	SNV Germline	Chr1:169529762	Conflicting classifications of pathogenicity	Factor V deficiency Ischemic stroke Pregnancy loss, recurrent, susceptibility to, 1 Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Condition: not provided Budd-Chiari syndrome Hemorrhage Inborn genetic diseases Thrombophilia due to activated protein C resistance Congenital factor V deficiency F5-related disorder Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233533	rs_41272455	9 SubmittersRCV000702387 RCV000763764 RCV000994167 RCV001096463 RCV002222609 RCV002334358 RCV002222608 RCV003596530 RCV004752998 RCV005420231
NM_000130.5(F5):c.5408A>G (p.His1803Arg)	SNV Germline	Chr1:169529619	Conflicting classifications of pathogenicity	Factor V deficiency Condition: not provided Ischemic stroke Budd-Chiari syndrome Pregnancy loss, recurrent, susceptibility to, 1 Congenital factor V deficiency Thrombophilia due to activated protein C resistance Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233513	rs_754104059	6 SubmittersRCV000851945 RCV003126927 RCV005049684 RCV006464174
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)	SNV Germline	Chr1:169549914	Conflicting classifications of pathogenicity	Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA343125006	rs_1571581722	2 SubmittersRCV000851702 RCV003596548
NM_000130.5(F5):c.911G>A (p.Gly304Glu)	SNV Germline	Chr1:169556687	Conflicting classifications of pathogenicity	Factor V deficiency Thromboembolism Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA32391346	rs_865947251	4 SubmittersRCV000852244 RCV000852245 RCV003596552
NM_000130.5(F5):c.1297-2A>G	SNV Germline	Chr1:169550741	Pathogenic/Likely pathogenic	Factor V deficiency Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA343126706	rs_762646464	3 SubmittersRCV000852009 RCV006464175
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)	SNV Germline	Chr1:169540501	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Congenital factor V deficiency F5-related disorder Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Pregnancy loss, recurrent, susceptibility to, 1 Ischemic stroke Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233685	rs_6007	4 SubmittersRCV001080915 RCV001100085 RCV001100088 RCV003762928 RCV003396564 RCV005392597 RCV005420273
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	SNV Germline	Chr1:169529782	Conflicting classifications of pathogenicity	Condition: not provided Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Abnormal bleeding Thrombocytopenia Congenital factor V deficiency F5-related disorder Thrombophilia due to thrombin defect Primary familial hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA1233537	rs_6034	7 SubmittersRCV000885721 RCV001098209 RCV001088962 RCV001096465 RCV001270592 RCV003596643 RCV003975576 RCV005420255 RCV006270235
NM_000130.5(F5):c.3845A>G (p.His1282Arg)	SNV Germline	Chr1:169541245	Conflicting classifications of pathogenicity	Factor V deficiency Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233811	rs_143333036	5 SubmittersRCV000986457 RCV001706713 RCV003596648
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)	SNV Germline	Chr1:169541314	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233830	rs_150104888	3 SubmittersRCV001096956 RCV001102364 RCV003596645 RCV005420256 RCV006367449
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)	SNV Germline	Chr1:169541928	Conflicting classifications of pathogenicity	Condition: not provided Budd-Chiari syndrome Pregnancy loss, recurrent, susceptibility to, 1 Ischemic stroke Factor V deficiency Thrombophilia due to activated protein C resistance Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233961	rs_149026031	6 SubmittersRCV000888626 RCV002505262 RCV002539380 RCV003596649
NM_000130.5(F5):c.106G>A (p.Val36Met)	SNV Germline	Chr1:169586281	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234738	rs_147487854	2 SubmittersRCV002409128 RCV003596638
NM_000130.5(F5):c.2939G>T (p.Arg980Leu)	SNV Germline	Chr1:169542151	Conflicting classifications of pathogenicity	Congenital factor V deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA1233999	rs_9332605	2 SubmittersRCV003596672 RCV006250897
NM_000130.5(F5):c.2383C>G (p.Gln795Glu)	SNV Germline	Chr1:169542707	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234096	rs_374379051	2 SubmittersRCV002454073 RCV003596663
NM_000130.5(F5):c.5001G>A (p.Pro1667=)	SNV Germline	Chr1:169530993	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233591	rs_747456938	2 SubmittersRCV001096569 RCV001096570 RCV003596707 RCV005420264
NM_000130.5(F5):c.6193+7T>A	SNV Germline	Chr1:169520513	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Condition: not provided Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233300	rs_185294741	3 SubmittersRCV000953158 RCV001101583 RCV003762919 RCV004584833 RCV005420270
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser)	SNV Germline	Chr1:169541869	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Congenital factor V deficiency Ischemic stroke Pregnancy loss, recurrent, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA1233948	rs_200269019	3 SubmittersRCV002445375 RCV003595686 RCV005394732
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	SNV Germline	Chr1:169523322	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Inborn genetic diseases Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Congenital factor V deficiency Ischemic stroke Pregnancy loss, recurrent, susceptibility to, 1 Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233357	rs_146312772	4 SubmittersRCV001097916 RCV001097917 RCV003763808 RCV004032006 RCV005394739 RCV005420283
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)	SNV Germline	Chr1:169528068	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Condition: not provided Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233496	rs_141977229	4 SubmittersRCV001101783 RCV001101782 RCV001101785 RCV003595690 RCV004546603 RCV005420336
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)	SNV Germline	Chr1:169528083	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency F5-related disorder Congenital factor V deficiency Condition: not provided Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233500	rs_138877178	4 SubmittersRCV001096365 RCV001096366 RCV003918670 RCV003763809 RCV004691341 RCV005420285
NM_000130.5(F5):c.4347G>A (p.Pro1449=)	SNV Germline	Chr1:169540743	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233712	rs_145732153	3 SubmittersRCV001102080 RCV001102082 RCV003346315 RCV003763816 RCV005420337
NM_000130.5(F5):c.3810C>G (p.Ala1270=)	SNV Germline	Chr1:169541280	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1233823	rs_781657137	2 SubmittersRCV001100392 RCV001100390 RCV001100391 RCV003763814 RCV005420326
NM_000130.5(F5):c.3751T>C (p.Leu1251=)	SNV Germline	Chr1:169541339	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Condition: not provided Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA421930518	rs_1403856375	3 SubmittersRCV001096960 RCV001096959 RCV001096961 RCV004691346 RCV005420290 RCV006557010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)	SNV Germline	Chr1:169543053	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Inborn genetic diseases Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234162	rs_374118662	3 SubmittersRCV001099187 RCV001099095 RCV002554932 RCV003763812 RCV005420315
NM_000130.5(F5):c.1158A>G (p.Gln386=)	SNV Germline	Chr1:169552695	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234401	rs_148623862	2 SubmittersRCV001101388 RCV001101387 RCV003595689 RCV005420333
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)	SNV Germline	Chr1:169555267	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234450	rs_746260106	2 SubmittersRCV001097724 RCV001097725 RCV001097726 RCV003595687 RCV005420303
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)	SNV Germline	Chr1:169555279	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234452	rs_200532195	2 SubmittersRCV001097727 RCV001099510 RCV003763811 RCV005420304
NM_000130.5(F5):c.628C>A (p.Gln210Lys)	SNV Germline	Chr1:169559255	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency F5-related disorder Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234548	rs_144937515	3 SubmittersRCV001101584 RCV001101585 RCV003763813 RCV004753209 RCV005420320
NM_000130.5(F5):c.1297-13T>C	SNV Germline	Chr1:169550752	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234361	rs_372389170	2 SubmittersRCV001099403 RCV001097638 RCV001099401 RCV003763810 RCV005420301
NM_000130.5(F5):c.586+11C>A	SNV Germline	Chr1:169560543	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234576	rs_199638362	2 SubmittersRCV001101586 RCV001101587 RCV003763815 RCV005420334
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys)	SNV Germline	Chr1:169540945	Conflicting classifications of pathogenicity	Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233747	rs_775712769	2 SubmittersRCV003595769 RCV005550326
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)	SNV Germline	Chr1:169541833	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233941	rs_116407347	2 SubmittersRCV002322385 RCV003595766
NM_000130.5(F5):c.1181T>C (p.Val394Ala)	SNV Germline	Chr1:169552672	Conflicting classifications of pathogenicity	Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234396	rs_142875000	2 SubmittersRCV003145659 RCV003595770
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu)	SNV Germline	Chr1:169540744	Conflicting classifications of pathogenicity	Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233713	rs_113768654	2 SubmittersRCV003595807 RCV004980536
NM_000130.5(F5):c.2752C>T (p.Pro918Ser)	SNV Germline	Chr1:169542338	Conflicting classifications of pathogenicity	Congenital factor V deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA1234036	rs_149389480	2 SubmittersRCV003595805 RCV005401844
NM_000130.5(F5):c.2806C>G (p.Gln936Glu)	SNV Germline	Chr1:169542284	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234027	rs_138086769	2 SubmittersRCV002562719 RCV003595816
NM_000130.5(F5):c.1600C>T (p.Arg534Ter)	SNV Germline	Chr1:169549812	Pathogenic	Congenital factor V deficiency Glioma susceptibility 1	Criteria Provided Single Submitter	CA1234292	rs_770011773	2 SubmittersRCV003762092 RCV005924362
NM_000130.5(F5):c.136C>G (p.Arg46Gly)	SNV Germline	Chr1:169586251	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency Congenital factor V deficiency Ischemic stroke Thrombophilia due to activated protein C resistance Pregnancy loss, recurrent, susceptibility to, 1 Budd-Chiari syndrome	Criteria Provided Conflicting Classifications	CA1234733	rs_140598745	3 SubmittersRCV002383666 RCV003597437 RCV005397410
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)	SNV Germline	Chr1:169525944	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233445	rs_760734519	2 SubmittersRCV002763860 RCV003761598
NM_000130.5(F5):c.987C>A (p.Cys329Ter)	SNV Germline	Chr1:169555313	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343132226	rs_2526430459	1 SubmittersRCV003596338
NM_000130.5(F5):c.1396+2T>C	SNV Germline	Chr1:169550638	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343125841	rs_2526418803	1 SubmittersRCV003596300
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)	SNV Germline	Chr1:169536577	Pathogenic/Likely pathogenic	Congenital factor V deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1233621	rs_760525448	2 SubmittersRCV003596405 RCV004765874
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)	SNV Germline	Chr1:169541558	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343148693	rs_1557915380	1 SubmittersRCV003596400
NM_000130.5(F5):c.4813G>C (p.Asp1605His)	SNV Germline	Chr1:169536664	Conflicting classifications of pathogenicity	Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233631	rs_201640368	2 SubmittersRCV003596735 RCV004980868
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)	SNV Germline	Chr1:169542002	Pathogenic	Congenital factor V deficiency F5-related disorder Ischemic stroke Congenital factor V deficiency Budd-Chiari syndrome Pregnancy loss, recurrent, susceptibility to, 1 Thrombophilia due to activated protein C resistance	Criteria Provided Multiple Submitters No Conflicts	CA1233977	rs_780253174	3 SubmittersRCV003596842 RCV004753692 RCV005051336
NM_000130.5(F5):c.1619C>T (p.Ala540Val)	SNV Germline	Chr1:169546585	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343124062	rs_761915766	1 SubmittersRCV003596844
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)	SNV Germline	Chr1:169552595	Pathogenic	Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA343127965	rs_1172481159	2 SubmittersRCV003596845
NM_000130.5(F5):c.653T>C (p.Phe218Ser)	SNV Germline	Chr1:169559230	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343136000	rs_1660402465	1 SubmittersRCV003596846
NM_000130.5(F5):c.286G>C (p.Asp96His)	SNV Germline	Chr1:169572308	Pathogenic	Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA1234662	rs_747215273	2 SubmittersRCV003596847
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)	SNV Germline	Chr1:169540625	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343143561	rs_2526387778	1 SubmittersRCV003596939
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)	SNV Germline	Chr1:169542862	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA1234125	rs_764010406	1 SubmittersRCV003597078
NM_000130.5(F5):c.373+1G>A	SNV Germline	Chr1:169572220	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343141833	rs_2526472593	1 SubmittersRCV003762482
NM_000130.5(F5):c.953-1G>A	SNV Germline	Chr1:169555348	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343132676	rs_2526430620	1 SubmittersRCV003763330
NM_000130.5(F5):c.5502C>T (p.Gly1834=)	SNV Germline	Chr1:169528012	Conflicting classifications of pathogenicity	Congenital factor V deficiency Inborn genetic diseases Gastric cancer	Criteria Provided Conflicting Classifications	CA1233486	rs_141434073	3 SubmittersRCV003763582 RCV005555016 RCV005934742
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)	SNV Germline	Chr1:169530851	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA1233568	rs_746405100	1 SubmittersRCV003763586
NM_000130.5(F5):c.155C>G (p.Ser52Ter)	SNV Germline	Chr1:169586232	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA1234730	rs_779040384	1 SubmittersRCV003763615
NM_000130.5(F5):c.5789-1G>A	SNV Germline	Chr1:169523905	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343123544	rs_1471977901	1 SubmittersRCV003764219
NM_000130.5(F5):c.436C>T (p.Arg146Ter)	SNV Germline	Chr1:169560704	Pathogenic/Likely pathogenic	Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA1234608	rs_767477438	3 SubmittersRCV003764221
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)	SNV Germline	Chr1:169541444	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343148065	rs_1267208797	1 SubmittersRCV003763610
NM_000130.5(F5):c.3821T>C (p.Met1274Thr)	SNV Germline	Chr1:169541269	Conflicting classifications of pathogenicity	Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233818	rs_763734157	2 SubmittersRCV003764242 RCV004621872
NM_000130.5(F5):c.5789-1G>T	SNV Germline	Chr1:169523905	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343123543	rs_1471977901	1 SubmittersRCV003764247
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)	SNV Germline	Chr1:169523900	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343123533	rs_1189685462	1 SubmittersRCV003764257
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)	SNV Germline	Chr1:169536616	Pathogenic/Likely pathogenic	Congenital factor V deficiency	Criteria Provided Multiple Submitters No Conflicts	CA343137915	rs_2526378815	2 SubmittersRCV003764253
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)	SNV Germline	Chr1:169525972	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343125043	rs_2526354513	1 SubmittersRCV003814205
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)	SNV Germline	Chr1:169542144	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343119625	rs_2526394415	1 SubmittersRCV003827300
NM_000130.5(F5):c.5209-2A>G	SNV Germline	Chr1:169529820	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter	CA343131524	rs_1410859141	1 SubmittersRCV003875829
NM_000130.5(F5):c.5370T>A (p.Ser1790Arg)	SNV Germline	Chr1:169529657	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233520	rs_373101677	2 SubmittersRCV004385860 RCV006483883
NM_000130.5(F5):c.2988T>G (p.Ser996Arg)	SNV Germline	Chr1:169542102	Conflicting classifications of pathogenicity	Condition: not provided Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_760204061	3 SubmittersRCV004585512 RCV005101969 RCV005567718
NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)	SNV Germline	Chr1:169514384	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004699693
NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)	SNV Germline	Chr1:169514330	Likely pathogenic	Congenital factor V deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004788514 RCV006276544
NM_000130.5(F5):c.2722G>T (p.Glu908Ter)	SNV Germline	Chr1:169542368	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004818938
NM_000130.5(F5):c.6048G>A (p.Met2016Ile)	SNV Germline	Chr1:169523197	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004821349
NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)	SNV Germline	Chr1:169523877	Likely pathogenic	Budd-Chiari syndrome Ischemic stroke Thrombophilia due to activated protein C resistance Pregnancy loss, recurrent, susceptibility to, 1 Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005051117
NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)	SNV Germline	Chr1:169543011	Likely pathogenic	Budd-Chiari syndrome Ischemic stroke Thrombophilia due to activated protein C resistance Pregnancy loss, recurrent, susceptibility to, 1 Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005051144
NM_000130.5(F5):c.1297-1G>C	SNV Germline	Chr1:169550740	Likely pathogenic	Budd-Chiari syndrome Ischemic stroke Thrombophilia due to activated protein C resistance Pregnancy loss, recurrent, susceptibility to, 1 Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005051161
NM_000130.5(F5):c.1609C>T (p.Gln537Ter)	SNV Germline	Chr1:169549803	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005076208
NM_000130.5(F5):c.731-2A>T	SNV Germline	Chr1:169556869	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005078010
NM_000130.5(F5):c.357C>G (p.Tyr119Ter)	SNV Germline	Chr1:169572237	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005083508
NM_000130.5(F5):c.6182G>A (p.Cys2061Tyr)	SNV Germline	Chr1:169520531	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005087719
NM_000130.5(F5):c.6193+1G>A	SNV Germline	Chr1:169520519	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005110676
NM_000130.5(F5):c.1345G>T (p.Gly449Ter)	SNV Germline	Chr1:169550691	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005120035
NM_000130.5(F5):c.5086G>T (p.Glu1696Ter)	SNV Germline	Chr1:169530908	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005164851
NM_000130.5(F5):c.158+1G>A	SNV Germline	Chr1:169586228	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005360459
NM_000130.5(F5):c.6305G>A (p.Arg2102His)	SNV Germline	Chr1:169518452	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005431234
NM_000130.5(F5):c.4195C>T (p.Gln1399Ter)	SNV Germline	Chr1:169540895	Likely pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005625083
NM_000130.5(F5):c.5521G>A (p.Val1841Met)	SNV Germline	Chr1:169527993	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006534044
NM_000130.5(F5):c.6091C>T (p.Gln2031Ter)	SNV Germline	Chr1:169520622	Pathogenic	Congenital factor V deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006633758

SNV
Germline

Chr1:169555300

Conflicting classifications of pathogenicity

Factor V Hong Kong
Condition: not provided
Thrombophilia due to activated protein C resistance
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA114381

rs_118203905

4 SubmittersRCV000000677 RCV001753395 RCV002269817 RCV003761734

NM_000130.5(F5):c.1001G>C (p.Arg334Thr)

SNV
Germline

Chr1:169555299

Conflicting classifications of pathogenicity

Thrombophilia due to activated protein C resistance
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA251546

rs_118203906

5 SubmittersRCV000000678 RCV006612197

NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)

SNV
Germline

Chr1:169530805

Pathogenic/Likely pathogenic

Factor V deficiency
Congenital factor V deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251551

rs_118203907

4 SubmittersRCV000000683 RCV003595850 RCV004766973

NM_000130.5(F5):c.1601= (p.Arg534=)

SNV
Germline

Chr1:169549811

Conflicting classifications of pathogenicity

Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

rs_6025

5 SubmittersRCV000514863 RCV003761828

NM_000130.5(F5):c.5290A>G (p.Met1764Val)

SNV
Germline

Chr1:169529737

Conflicting classifications of pathogenicity

not specified
Thrombophilia due to activated protein C resistance
Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233528

rs_6030

9 SubmittersRCV000252958 RCV000398818 RCV000994166 RCV003761855

NM_000130.5(F5):c.2573A>G (p.Lys858Arg)

SNV
Germline

Chr1:169542517

Conflicting classifications of pathogenicity

not specified
Thrombophilia due to activated protein C resistance
Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234067

rs_4524

9 SubmittersRCV000242831 RCV000351409 RCV000994174 RCV003761846

NM_000130.5(F5):c.5721T>C (p.Cys1907=)

SNV
Germline

Chr1:169524904

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Thrombophilia due to thrombin defect
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA10608168

rs_886045543

2 SubmittersRCV000261762 RCV000367162 RCV005419989 RCV006462369

NM_000130.5(F5):c.5589C>A (p.Pro1863=)

SNV
Germline

Chr1:169527925

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Inborn genetic diseases
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233475

rs_148772659

3 SubmittersRCV000332303 RCV000326600 RCV003595911 RCV004021370 RCV005419990

NM_000130.5(F5):c.5490G>A (p.Leu1830=)

SNV
Germline

Chr1:169528024

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Thrombophilia due to thrombin defect
Inborn genetic diseases
Congenital factor V deficiency
F5-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1233487

rs_149092241

5 SubmittersRCV000269860 RCV000275851 RCV005419993 RCV002348034 RCV003595913 RCV003949973 RCV005420499

NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)

SNV
Germline

Chr1:169530940

Conflicting classifications of pathogenicity

Factor V deficiency
Condition: not provided
Thrombocytopenia
Abnormal bleeding
Congenital factor V deficiency
F5-related disorder
Thrombophilia due to thrombin defect
Budd-Chiari syndrome

Criteria Provided
Conflicting Classifications

CA1233580

rs_6011

6 SubmittersRCV000388806 RCV000885722 RCV001270593 RCV003595915 RCV003967826 RCV005420001 RCV000364575

NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)

SNV
Germline

Chr1:169540685

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233700

rs_144262027

2 SubmittersRCV000390351 RCV000379582 RCV003595916 RCV005420006

NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)

SNV
Germline

Chr1:169541239

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Condition: not provided
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233810

rs_139573207

3 SubmittersRCV000318613 RCV000367480 RCV006439963 RCV003595918 RCV005420014

NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)

SNV
Germline

Chr1:169541648

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Budd-Chiari syndrome
Thrombophilia due to activated protein C resistance
Ischemic stroke
Pregnancy loss, recurrent, susceptibility to, 1
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233909

rs_369276714

4 SubmittersRCV000265941 RCV000384835 RCV003761899 RCV005396910 RCV005420018 RCV006362230

NM_000130.5(F5):c.2222A>G (p.Asn741Ser)

SNV
Germline

Chr1:169542868

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Condition: not provided
Congenital factor V deficiency
F5-related disorder
Factor V deficiency
Inborn genetic diseases
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234128

rs_144979314

6 SubmittersRCV000319985 RCV002292439 RCV003761906 RCV003930208 RCV000373517 RCV002429244 RCV005420032

NM_000130.5(F5):c.2218C>T (p.Arg740Ter)

SNV
Germline

Chr1:169542872

Pathogenic/Likely pathogenic

Factor V deficiency
Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10608192

rs_757953549

2 SubmittersRCV000284956 RCV003595925

NM_000130.5(F5):c.1034G>A (p.Arg345Gln)

SNV
Germline

Chr1:169555266

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect
not specified

Criteria Provided
Conflicting Classifications

CA1234449

rs_201078171

3 SubmittersRCV000311333 RCV000396625 RCV005208750 RCV005420042 RCV005230231

NM_000130.5(F5):c.885C>T (p.Thr295=)

SNV
Germline

Chr1:169556713

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
F5-related disorder
Thrombophilia due to thrombin defect
Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234491

rs_148752831

4 SubmittersRCV000290504 RCV000347873 RCV003897666 RCV005420045 RCV005632356 RCV003595929

NM_000130.5(F5):c.6360G>A (p.Lys2120=)

SNV
Germline

Chr1:169515612

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233237

rs_757104503

2 SubmittersRCV000266136 RCV000361958 RCV003761888 RCV005419985

NM_000130.5(F5):c.6309G>A (p.Leu2103=)

SNV
Germline

Chr1:169518448

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Condition: not provided
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233268

rs_35369423

4 SubmittersRCV000330654 RCV000387460 RCV000961008 RCV003761889 RCV005419986 RCV002365337

NM_000130.5(F5):c.5788+4A>T

SNV
Germline

Chr1:169524833

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233405

rs_759428783

2 SubmittersRCV000297071 RCV000405635 RCV003595910 RCV005419988

NM_000130.5(F5):c.5124C>T (p.Tyr1708=)

SNV
Germline

Chr1:169530870

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233571

rs_199568344

3 SubmittersRCV000264323 RCV000408149 RCV003352827 RCV003595914 RCV005420000

NM_000130.5(F5):c.4835A>T (p.Asp1612Val)

SNV
Germline

Chr1:169536642

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1233629

rs_141589936

3 SubmittersRCV000279353 RCV000375867 RCV003761895 RCV005420005 RCV006250279

NM_000130.5(F5):c.4035A>G (p.Gln1345=)

SNV
Germline

Chr1:169541055

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10608311

rs_886045547

3 SubmittersRCV000359340 RCV000381298 RCV003595917 RCV005420012 RCV006263841

NM_000130.5(F5):c.2868T>C (p.Tyr956=)

SNV
Germline

Chr1:169542222

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Condition: not provided
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1234018

rs_149067268

4 SubmittersRCV000291609 RCV000346494 RCV000921574 RCV003595924 RCV005420028 RCV005338134

NM_000130.5(F5):c.2864G>T (p.Ser955Ile)

SNV
Germline

Chr1:169542226

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Condition: not provided
Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234019

rs_199507543

4 SubmittersRCV000319057 RCV000392785 RCV001753749 RCV002436131 RCV003761903 RCV005420029

NM_000130.5(F5):c.738A>G (p.Thr246=)

SNV
Germline

Chr1:169556860

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234517

rs_375739973

2 SubmittersRCV000304922 RCV000400390 RCV003761910 RCV005420046

NM_000130.5(F5):c.111T>A (p.Ala37=)

SNV
Germline

Chr1:169586276

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234737

rs_537081933

2 SubmittersRCV000350402 RCV000395796 RCV003761913 RCV005420053

NM_000130.5(F5):c.5419+11C>G

SNV
Germline

Chr1:169529597

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233509

rs_6008

2 SubmittersRCV000274341 RCV000355384 RCV003761892 RCV005419996

NM_000130.5(F5):c.4972-14A>C

SNV
Germline

Chr1:169531036

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233597

rs_763080313

2 SubmittersRCV000343414 RCV000391096 RCV003761894 RCV005420003

NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)

SNV
Germline

Chr1:169540757

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Inborn genetic diseases
Congenital factor V deficiency
Condition: not provided
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233716

rs_200204656

4 SubmittersRCV000368602 RCV000393067 RCV002328794 RCV003761896 RCV004720742 RCV005420008

NM_000130.5(F5):c.3801T>C (p.Leu1267=)

SNV
Germline

Chr1:169541289

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233826

rs_559683767

2 SubmittersRCV000340651 RCV000401577 RCV003595919 RCV005420015

NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)

SNV
Germline

Chr1:169541688

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases
F5-related disorder

Criteria Provided
Conflicting Classifications

CA1233917

rs_373880789

4 SubmittersRCV000300358 RCV000402033 RCV003595921 RCV005420020 RCV002450839 RCV003949974

NM_000130.5(F5):c.3255A>C (p.Thr1085=)

SNV
Germline

Chr1:169541835

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233942

rs_6006

2 SubmittersRCV000307720 RCV000398388 RCV003761901 RCV005420024

NM_000130.5(F5):c.3211C>T (p.His1071Tyr)

SNV
Germline

Chr1:169541879

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Thrombophilia due to thrombin defect
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233952

rs_146408488

2 SubmittersRCV000273413 RCV000368409 RCV005420025 RCV003595922

NM_000130.5(F5):c.1391C>T (p.Thr464Ile)

SNV
Germline

Chr1:169550645

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1234328

rs_141768227

3 SubmittersRCV000280173 RCV000372138 RCV003595927 RCV005420039 RCV006272138

NM_000130.5(F5):c.1300G>A (p.Val434Met)

SNV
Germline

Chr1:169550736

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234357

rs_574610215

3 SubmittersRCV000274427 RCV000313059 RCV002379158 RCV003761909 RCV005420040

NM_000130.5(F5):c.524A>G (p.His175Arg)

SNV
Germline

Chr1:169560616

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Condition: not provided
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234592

rs_201510575

4 SubmittersRCV000317190 RCV000353339 RCV000521560 RCV003595930 RCV005420049

NM_000130.5(F5):c.1785G>A (p.Glu595=)

SNV
Germline

Chr1:169544486

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234227

rs_112333778

2 SubmittersRCV000267085 RCV000324528 RCV003595926 RCV005420034

NM_000130.5(F5):c.1545C>T (p.Ile515=)

SNV
Germline

Chr1:169549867

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA10608726

rs_886045551

2 SubmittersRCV000330445 RCV000365132 RCV003761907 RCV005420037

NM_000130.5(F5):c.165T>C (p.Asn55=)

SNV
Germline

Chr1:169582516

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234703

rs_781434840

2 SubmittersRCV000322657 RCV000338860 RCV003595931 RCV005420051

NM_000130.5(F5):c.1106C>T (p.Ala369Val)

SNV
Germline

Chr1:169555194

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Gastric cancer
Thrombophilia due to thrombin defect
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1234440

rs_200934105

5 SubmittersRCV000284754 RCV000380295 RCV003595928 RCV005891516 RCV005420041 RCV000994182

NM_000130.5(F5):c.996A>C (p.Lys332Asn)

SNV
Germline

Chr1:169555304

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Inborn genetic diseases
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234456

rs_143509841

3 SubmittersRCV000690207 RCV001099512 RCV003596500 RCV004025044 RCV005420228

NM_000130.5(F5):c.5265A>G (p.Ile1755Met)

SNV
Germline

Chr1:169529762

Conflicting classifications of pathogenicity

Factor V deficiency
Ischemic stroke
Pregnancy loss, recurrent, susceptibility to, 1
Thrombophilia due to activated protein C resistance
Factor V deficiency
Budd-Chiari syndrome
Condition: not provided
Budd-Chiari syndrome
Hemorrhage
Inborn genetic diseases
Thrombophilia due to activated protein C resistance
Congenital factor V deficiency
F5-related disorder
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233533

rs_41272455

9 SubmittersRCV000702387 RCV000763764 RCV000994167 RCV001096463 RCV002222609 RCV002334358 RCV002222608 RCV003596530 RCV004752998 RCV005420231

NM_000130.5(F5):c.5408A>G (p.His1803Arg)

SNV
Germline

Chr1:169529619

Conflicting classifications of pathogenicity

Factor V deficiency
Condition: not provided
Ischemic stroke
Budd-Chiari syndrome
Pregnancy loss, recurrent, susceptibility to, 1
Congenital factor V deficiency
Thrombophilia due to activated protein C resistance
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233513

rs_754104059

6 SubmittersRCV000851945 RCV003126927 RCV005049684 RCV006464174

NM_000130.5(F5):c.1498T>G (p.Cys500Gly)

SNV
Germline

Chr1:169549914

Conflicting classifications of pathogenicity

Factor V deficiency
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA343125006

rs_1571581722

2 SubmittersRCV000851702 RCV003596548

NM_000130.5(F5):c.911G>A (p.Gly304Glu)

SNV
Germline

Chr1:169556687

Conflicting classifications of pathogenicity

Factor V deficiency
Thromboembolism
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA32391346

rs_865947251

4 SubmittersRCV000852244 RCV000852245 RCV003596552

NM_000130.5(F5):c.1297-2A>G

SNV
Germline

Chr1:169550741

Pathogenic/Likely pathogenic

Factor V deficiency
Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA343126706

rs_762646464

3 SubmittersRCV000852009 RCV006464175

NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)

SNV
Germline

Chr1:169540501

Conflicting classifications of pathogenicity

Factor V deficiency
Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Congenital factor V deficiency
F5-related disorder
Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Pregnancy loss, recurrent, susceptibility to, 1
Ischemic stroke
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233685

rs_6007

4 SubmittersRCV001080915 RCV001100085 RCV001100088 RCV003762928 RCV003396564 RCV005392597 RCV005420273

NM_000130.5(F5):c.5245C>G (p.Leu1749Val)

SNV
Germline

Chr1:169529782

Conflicting classifications of pathogenicity

Condition: not provided
Thrombophilia due to activated protein C resistance
Factor V deficiency
Budd-Chiari syndrome
Abnormal bleeding
Thrombocytopenia
Congenital factor V deficiency
F5-related disorder
Thrombophilia due to thrombin defect
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA1233537

rs_6034

7 SubmittersRCV000885721 RCV001098209 RCV001088962 RCV001096465 RCV001270592 RCV003596643 RCV003975576 RCV005420255 RCV006270235

NM_000130.5(F5):c.3845A>G (p.His1282Arg)

SNV
Germline

Chr1:169541245

Conflicting classifications of pathogenicity

Factor V deficiency
Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233811

rs_143333036

5 SubmittersRCV000986457 RCV001706713 RCV003596648

NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)

SNV
Germline

Chr1:169541314

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233830

rs_150104888

3 SubmittersRCV001096956 RCV001102364 RCV003596645 RCV005420256 RCV006367449

NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)

SNV
Germline

Chr1:169541928

Conflicting classifications of pathogenicity

Condition: not provided
Budd-Chiari syndrome
Pregnancy loss, recurrent, susceptibility to, 1
Ischemic stroke
Factor V deficiency
Thrombophilia due to activated protein C resistance
Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233961

rs_149026031

6 SubmittersRCV000888626 RCV002505262 RCV002539380 RCV003596649

NM_000130.5(F5):c.106G>A (p.Val36Met)

SNV
Germline

Chr1:169586281

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234738

rs_147487854

2 SubmittersRCV002409128 RCV003596638

NM_000130.5(F5):c.2939G>T (p.Arg980Leu)

SNV
Germline

Chr1:169542151

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1233999

rs_9332605

2 SubmittersRCV003596672 RCV006250897

NM_000130.5(F5):c.2383C>G (p.Gln795Glu)

SNV
Germline

Chr1:169542707

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234096

rs_374379051

2 SubmittersRCV002454073 RCV003596663

NM_000130.5(F5):c.5001G>A (p.Pro1667=)

SNV
Germline

Chr1:169530993

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233591

rs_747456938

2 SubmittersRCV001096569 RCV001096570 RCV003596707 RCV005420264

NM_000130.5(F5):c.6193+7T>A

SNV
Germline

Chr1:169520513

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Condition: not provided
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233300

rs_185294741

3 SubmittersRCV000953158 RCV001101583 RCV003762919 RCV004584833 RCV005420270

NM_000130.5(F5):c.3221A>G (p.Asn1074Ser)

SNV
Germline

Chr1:169541869

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Congenital factor V deficiency
Ischemic stroke
Pregnancy loss, recurrent, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA1233948

rs_200269019

3 SubmittersRCV002445375 RCV003595686 RCV005394732

NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)

SNV
Germline

Chr1:169523322

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Inborn genetic diseases
Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Congenital factor V deficiency
Ischemic stroke
Pregnancy loss, recurrent, susceptibility to, 1
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233357

rs_146312772

4 SubmittersRCV001097916 RCV001097917 RCV003763808 RCV004032006 RCV005394739 RCV005420283

NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)

SNV
Germline

Chr1:169528068

Conflicting classifications of pathogenicity

Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Condition: not provided
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233496

rs_141977229

4 SubmittersRCV001101783 RCV001101782 RCV001101785 RCV003595690 RCV004546603 RCV005420336

NM_000130.5(F5):c.5431A>T (p.Met1811Leu)

SNV
Germline

Chr1:169528083

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
F5-related disorder
Congenital factor V deficiency
Condition: not provided
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233500

rs_138877178

4 SubmittersRCV001096365 RCV001096366 RCV003918670 RCV003763809 RCV004691341 RCV005420285

NM_000130.5(F5):c.4347G>A (p.Pro1449=)

SNV
Germline

Chr1:169540743

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233712

rs_145732153

3 SubmittersRCV001102080 RCV001102082 RCV003346315 RCV003763816 RCV005420337

NM_000130.5(F5):c.3810C>G (p.Ala1270=)

SNV
Germline

Chr1:169541280

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Thrombophilia due to activated protein C resistance
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1233823

rs_781657137

2 SubmittersRCV001100392 RCV001100390 RCV001100391 RCV003763814 RCV005420326

NM_000130.5(F5):c.3751T>C (p.Leu1251=)

SNV
Germline

Chr1:169541339

Conflicting classifications of pathogenicity

Factor V deficiency
Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Condition: not provided
Thrombophilia due to thrombin defect
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA421930518

rs_1403856375

3 SubmittersRCV001096960 RCV001096959 RCV001096961 RCV004691346 RCV005420290 RCV006557010

NM_000130.5(F5):c.2037C>G (p.Phe679Leu)

SNV
Germline

Chr1:169543053

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Factor V deficiency
Inborn genetic diseases
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234162

rs_374118662

3 SubmittersRCV001099187 RCV001099095 RCV002554932 RCV003763812 RCV005420315

NM_000130.5(F5):c.1158A>G (p.Gln386=)

SNV
Germline

Chr1:169552695

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234401

rs_148623862

2 SubmittersRCV001101388 RCV001101387 RCV003595689 RCV005420333

NM_000130.5(F5):c.1033C>T (p.Arg345Trp)

SNV
Germline

Chr1:169555267

Conflicting classifications of pathogenicity

Thrombophilia due to activated protein C resistance
Budd-Chiari syndrome
Factor V deficiency
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234450

rs_746260106

2 SubmittersRCV001097724 RCV001097725 RCV001097726 RCV003595687 RCV005420303

NM_000130.5(F5):c.1021C>T (p.Arg341Cys)

SNV
Germline

Chr1:169555279

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234452

rs_200532195

2 SubmittersRCV001097727 RCV001099510 RCV003763811 RCV005420304

NM_000130.5(F5):c.628C>A (p.Gln210Lys)

SNV
Germline

Chr1:169559255

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
F5-related disorder
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234548

rs_144937515

3 SubmittersRCV001101584 RCV001101585 RCV003763813 RCV004753209 RCV005420320

NM_000130.5(F5):c.1297-13T>C

SNV
Germline

Chr1:169550752

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Thrombophilia due to activated protein C resistance
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234361

rs_372389170

2 SubmittersRCV001099403 RCV001097638 RCV001099401 RCV003763810 RCV005420301

NM_000130.5(F5):c.586+11C>A

SNV
Germline

Chr1:169560543

Conflicting classifications of pathogenicity

Factor V deficiency
Budd-Chiari syndrome
Congenital factor V deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA1234576

rs_199638362

2 SubmittersRCV001101586 RCV001101587 RCV003763815 RCV005420334

NM_000130.5(F5):c.4145C>A (p.Thr1382Lys)

SNV
Germline

Chr1:169540945

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233747

rs_775712769

2 SubmittersRCV003595769 RCV005550326

NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)

SNV
Germline

Chr1:169541833

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233941

rs_116407347

2 SubmittersRCV002322385 RCV003595766

NM_000130.5(F5):c.1181T>C (p.Val394Ala)

SNV
Germline

Chr1:169552672

Conflicting classifications of pathogenicity

Condition: not provided
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234396

rs_142875000

2 SubmittersRCV003145659 RCV003595770

NM_000130.5(F5):c.4346C>T (p.Pro1449Leu)

SNV
Germline

Chr1:169540744

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233713

rs_113768654

2 SubmittersRCV003595807 RCV004980536

NM_000130.5(F5):c.2752C>T (p.Pro918Ser)

SNV
Germline

Chr1:169542338

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1234036

rs_149389480

2 SubmittersRCV003595805 RCV005401844

NM_000130.5(F5):c.2806C>G (p.Gln936Glu)

SNV
Germline

Chr1:169542284

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1234027

rs_138086769

2 SubmittersRCV002562719 RCV003595816

NM_000130.5(F5):c.1600C>T (p.Arg534Ter)

SNV
Germline

Chr1:169549812

Pathogenic

Congenital factor V deficiency
Glioma susceptibility 1

Criteria Provided
Single Submitter

CA1234292

rs_770011773

2 SubmittersRCV003762092 RCV005924362

NM_000130.5(F5):c.136C>G (p.Arg46Gly)

SNV
Germline

Chr1:169586251

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency
Congenital factor V deficiency
Ischemic stroke
Thrombophilia due to activated protein C resistance
Pregnancy loss, recurrent, susceptibility to, 1
Budd-Chiari syndrome

Criteria Provided
Conflicting Classifications

CA1234733

rs_140598745

3 SubmittersRCV002383666 RCV003597437 RCV005397410

NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)

SNV
Germline

Chr1:169525944

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233445

rs_760734519

2 SubmittersRCV002763860 RCV003761598

NM_000130.5(F5):c.987C>A (p.Cys329Ter)

SNV
Germline

Chr1:169555313

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343132226

rs_2526430459

1 SubmittersRCV003596338

NM_000130.5(F5):c.1396+2T>C

SNV
Germline

Chr1:169550638

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343125841

rs_2526418803

1 SubmittersRCV003596300

NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)

SNV
Germline

Chr1:169536577

Pathogenic/Likely pathogenic

Congenital factor V deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1233621

rs_760525448

2 SubmittersRCV003596405 RCV004765874

NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)

SNV
Germline

Chr1:169541558

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343148693

rs_1557915380

1 SubmittersRCV003596400

NM_000130.5(F5):c.4813G>C (p.Asp1605His)

SNV
Germline

Chr1:169536664

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233631

rs_201640368

2 SubmittersRCV003596735 RCV004980868

NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)

SNV
Germline

Chr1:169542002

Pathogenic

Congenital factor V deficiency
F5-related disorder
Ischemic stroke
Congenital factor V deficiency
Budd-Chiari syndrome
Pregnancy loss, recurrent, susceptibility to, 1
Thrombophilia due to activated protein C resistance

Criteria Provided
Multiple Submitters
No Conflicts

CA1233977

rs_780253174

3 SubmittersRCV003596842 RCV004753692 RCV005051336

NM_000130.5(F5):c.1619C>T (p.Ala540Val)

SNV
Germline

Chr1:169546585

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343124062

rs_761915766

1 SubmittersRCV003596844

NM_000130.5(F5):c.1258G>T (p.Gly420Cys)

SNV
Germline

Chr1:169552595

Pathogenic

Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA343127965

rs_1172481159

2 SubmittersRCV003596845

NM_000130.5(F5):c.653T>C (p.Phe218Ser)

SNV
Germline

Chr1:169559230

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343136000

rs_1660402465

1 SubmittersRCV003596846

NM_000130.5(F5):c.286G>C (p.Asp96His)

SNV
Germline

Chr1:169572308

Pathogenic

Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA1234662

rs_747215273

2 SubmittersRCV003596847

NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)

SNV
Germline

Chr1:169540625

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343143561

rs_2526387778

1 SubmittersRCV003596939

NM_000130.5(F5):c.2228C>A (p.Ser743Ter)

SNV
Germline

Chr1:169542862

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA1234125

rs_764010406

1 SubmittersRCV003597078

NM_000130.5(F5):c.373+1G>A

SNV
Germline

Chr1:169572220

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343141833

rs_2526472593

1 SubmittersRCV003762482

NM_000130.5(F5):c.953-1G>A

SNV
Germline

Chr1:169555348

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343132676

rs_2526430620

1 SubmittersRCV003763330

NM_000130.5(F5):c.5502C>T (p.Gly1834=)

SNV
Germline

Chr1:169528012

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Inborn genetic diseases
Gastric cancer

Criteria Provided
Conflicting Classifications

CA1233486

rs_141434073

3 SubmittersRCV003763582 RCV005555016 RCV005934742

NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)

SNV
Germline

Chr1:169530851

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA1233568

rs_746405100

1 SubmittersRCV003763586

NM_000130.5(F5):c.155C>G (p.Ser52Ter)

SNV
Germline

Chr1:169586232

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA1234730

rs_779040384

1 SubmittersRCV003763615

NM_000130.5(F5):c.5789-1G>A

SNV
Germline

Chr1:169523905

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343123544

rs_1471977901

1 SubmittersRCV003764219

NM_000130.5(F5):c.436C>T (p.Arg146Ter)

SNV
Germline

Chr1:169560704

Pathogenic/Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA1234608

rs_767477438

3 SubmittersRCV003764221

NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)

SNV
Germline

Chr1:169541444

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343148065

rs_1267208797

1 SubmittersRCV003763610

NM_000130.5(F5):c.3821T>C (p.Met1274Thr)

SNV
Germline

Chr1:169541269

Conflicting classifications of pathogenicity

Congenital factor V deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233818

rs_763734157

2 SubmittersRCV003764242 RCV004621872

NM_000130.5(F5):c.5789-1G>T

SNV
Germline

Chr1:169523905

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343123543

rs_1471977901

1 SubmittersRCV003764247

NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)

SNV
Germline

Chr1:169523900

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343123533

rs_1189685462

1 SubmittersRCV003764257

NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)

SNV
Germline

Chr1:169536616

Pathogenic/Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA343137915

rs_2526378815

2 SubmittersRCV003764253

NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)

SNV
Germline

Chr1:169525972

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343125043

rs_2526354513

1 SubmittersRCV003814205

NM_000130.5(F5):c.2946G>A (p.Trp982Ter)

SNV
Germline

Chr1:169542144

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343119625

rs_2526394415

1 SubmittersRCV003827300

NM_000130.5(F5):c.5209-2A>G

SNV
Germline

Chr1:169529820

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

CA343131524

rs_1410859141

1 SubmittersRCV003875829

NM_000130.5(F5):c.5370T>A (p.Ser1790Arg)

SNV
Germline

Chr1:169529657

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital factor V deficiency

Criteria Provided
Conflicting Classifications

CA1233520

rs_373101677

2 SubmittersRCV004385860 RCV006483883

NM_000130.5(F5):c.2988T>G (p.Ser996Arg)

SNV
Germline

Chr1:169542102

Conflicting classifications of pathogenicity

Condition: not provided
Congenital factor V deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760204061

3 SubmittersRCV004585512 RCV005101969 RCV005567718

NM_000130.5(F5):c.6604C>T (p.Arg2202Cys)

SNV
Germline

Chr1:169514384

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004699693

NM_000130.5(F5):c.6658G>T (p.Gly2220Cys)

SNV
Germline

Chr1:169514330

Likely pathogenic

Congenital factor V deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788514 RCV006276544

NM_000130.5(F5):c.2722G>T (p.Glu908Ter)

SNV
Germline

Chr1:169542368

Likely pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004818938

NM_000130.5(F5):c.6048G>A (p.Met2016Ile)

SNV
Germline

Chr1:169523197

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004821349

NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)

SNV
Germline

Chr1:169523877

Likely pathogenic

Budd-Chiari syndrome
Ischemic stroke
Thrombophilia due to activated protein C resistance
Pregnancy loss, recurrent, susceptibility to, 1
Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005051117

NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)

SNV
Germline

Chr1:169543011

Likely pathogenic

Budd-Chiari syndrome
Ischemic stroke
Thrombophilia due to activated protein C resistance
Pregnancy loss, recurrent, susceptibility to, 1
Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005051144

NM_000130.5(F5):c.1297-1G>C

SNV
Germline

Chr1:169550740

Likely pathogenic

Budd-Chiari syndrome
Ischemic stroke
Thrombophilia due to activated protein C resistance
Pregnancy loss, recurrent, susceptibility to, 1
Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005051161

NM_000130.5(F5):c.1609C>T (p.Gln537Ter)

SNV
Germline

Chr1:169549803

Pathogenic

Congenital factor V deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005076208

NM_000130.5(F5):c.731-2A>T

SNV
Germline

Chr1:169556869