Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	SNV Germline	Chr1:11801166	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278053	rs_121434295	6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616
NM_000506.3(F2):c.598G>A (p.Glu200Lys)	SNV Germline	Chr11:46725897	Conflicting classifications of pathogenicity; risk factor	PROTHROMBIN TYPE 3 Condition: not provided Thrombophilia due to thrombin defect Congenital prothrombin deficiency Cerebral palsy	Criteria Provided Conflicting Classifications	CA090909	rs_62623459	7 SubmittersRCV000014229 RCV000994617 RCV001108918 RCV001108917 RCV001794445
NM_000506.5(F2):c.*97G>A	SNV Germline	Chr11:46739505	Pathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor	Thrombophilia due to thrombin defect Pregnancy loss, recurrent, susceptibility to, 2 Ischemic stroke Congenital prothrombin deficiency Venous thromboembolism Condition: not provided Cerebral palsy Thrombophilia caused by F2 prothrombin deficiency	Criteria Provided Multiple Submitters No Conflicts	CA325636	rs_1799963	23 SubmittersRCV000014237 RCV000022729 RCV000014238 RCV000205022 RCV000826090 RCV001091960 RCV001794446 RCV002468555
NM_000506.5(F2):c.1787G>T (p.Arg596Leu)	SNV Germline	Chr11:46739326	Pathogenic	Thrombophilia due to thrombin defect	No Assertion Criteria Provided	CA342808	rs_387907201	2 SubmittersRCV000024607
NM_005957.5(MTHFR):c.1632+2T>G	SNV Germline	Chr1:11792276	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198643	rs_749765738	6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)	SNV Germline	Chr1:11794385	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts	CA198633	rs_367585605	4 SubmittersRCV000167613 RCV002498831 RCV003462250
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	SNV Germline	Chr1:11800250	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts	CA198586	rs_574132670	8 SubmittersRCV000167596 RCV000993916 RCV003468813 RCV004786480
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr1:11792354	Conflicting classifications of pathogenicity	Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect MTHFR-related disorder	Criteria Provided Conflicting Classifications	CA239275	rs_45449298	7 SubmittersRCV000173820 RCV001081882 RCV000763727 RCV003947466
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)	SNV Germline	Chr1:11801220	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect not specified Neural tube defects, folate-sensitive	Criteria Provided Conflicting Classifications	CA16044133	rs_1057519360	5 SubmittersRCV000416816 RCV002503824 RCV003235132 RCV003468969
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)	SNV Germline	Chr1:169530817	Conflicting classifications of pathogenicity	not specified Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233564	rs_369516642	3 SubmittersRCV000248189 RCV001098212 RCV001098210 RCV001098211 RCV003352815
NM_000506.5(F2):c.1602G>A (p.Pro534=)	SNV Germline	Chr11:46729509	Conflicting classifications of pathogenicity	not specified Congenital prothrombin deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA5967326	rs_5900	3 SubmittersRCV000252009 RCV000271684 RCV000359671
NM_000506.5(F2):c.1824C>T (p.Arg608=)	SNV Germline	Chr11:46739363	Conflicting classifications of pathogenicity	not specified Congenital prothrombin deficiency Thrombophilia due to thrombin defect Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5967408	rs_3136532	5 SubmittersRCV000243833 RCV001103849 RCV001103850 RCV000952961 RCV002411113
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)	SNV Germline	Chr1:11796313	Conflicting classifications of pathogenicity	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect Homocystinuria due to methylene tetrahydrofolate reductase deficiency Schizophrenia Condition: not provided	Criteria Provided Conflicting Classifications		rs_200100285	4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452
NM_000130.5(F5):c.*1488T>C	SNV Germline	Chr1:169512825	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Factor V deficiency	Criteria Provided Conflicting Classifications	CA10608137	rs_75764442	1 SubmittersRCV000283794 RCV000324410 RCV000328363 RCV000379055
NM_000130.5(F5):c.5589C>A (p.Pro1863=)	SNV Germline	Chr1:169527925	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233475	rs_148772659	3 SubmittersRCV000287942 RCV000326600 RCV000332303 RCV000389293 RCV003595911 RCV004021370
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 Thrombophilia due to activated protein C resistance Inborn genetic diseases Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications	CA1233487	rs_149092241	4 SubmittersRCV000269860 RCV000275851 RCV000306495 RCV000364640 RCV002348034 RCV003595913 RCV003949973
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)	SNV Germline	Chr1:169530940	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Condition: not provided Abnormal bleeding Thrombocytopenia Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications	CA1233580	rs_6011	6 SubmittersRCV000269935 RCV000294734 RCV000364575 RCV000388806 RCV000885722 RCV001270593 RCV003595915 RCV003967826
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)	SNV Germline	Chr1:169540685	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233700	rs_144262027	2 SubmittersRCV000285155 RCV000315692 RCV000379582 RCV000390351 RCV003595916
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)	SNV Germline	Chr1:169541239	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233810	rs_139573207	2 SubmittersRCV000276520 RCV000275198 RCV000318613 RCV000367480 RCV003595918
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)	SNV Germline	Chr1:169541648	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233909	rs_369276714	2 SubmittersRCV000265941 RCV000288157 RCV000327944 RCV000384835 RCV003761899
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)	SNV Germline	Chr1:169542868	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Condition: not provided Inborn genetic diseases Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications	CA1234128	rs_144979314	6 SubmittersRCV000260117 RCV000319985 RCV000332909 RCV000373517 RCV002292439 RCV002429244 RCV003761906 RCV003930208
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)	SNV Germline	Chr1:169555266	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA1234449	rs_201078171	2 SubmittersRCV000311333 RCV000314889 RCV000396625 RCV000401373
NM_000130.5(F5):c.885C>T (p.Thr295=)	SNV Germline	Chr1:169556713	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Thrombophilia due to thrombin defect Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications	CA1234491	rs_148752831	3 SubmittersRCV000293920 RCV000290504 RCV000347873 RCV000386101 RCV003595929 RCV003897666
NM_000130.5(F5):c.*476C>T	SNV Germline	Chr1:169513837	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA10608286	rs_72708017	1 SubmittersRCV000293862 RCV000313750 RCV000348784 RCV000407222
NM_000130.5(F5):c.6360G>A (p.Lys2120=)	SNV Germline	Chr1:169515612	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233237	rs_757104503	2 SubmittersRCV000260335 RCV000266136 RCV000323627 RCV000361958 RCV003761888
NM_000130.5(F5):c.6309G>A (p.Leu2103=)	SNV Germline	Chr1:169518448	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Condition: not provided Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233268	rs_35369423	4 SubmittersRCV000282703 RCV000330654 RCV000374331 RCV000387460 RCV000961008 RCV002365337 RCV003761889
NM_000130.5(F5):c.5788+4A>T	SNV Germline	Chr1:169524833	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233405	rs_759428783	2 SubmittersRCV000297071 RCV000302944 RCV000405635 RCV000408234 RCV003595910
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)	SNV Germline	Chr1:169530870	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233571	rs_199568344	3 SubmittersRCV000264323 RCV000304235 RCV000328794 RCV000408149 RCV003352827 RCV003595914
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)	SNV Germline	Chr1:169536642	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233629	rs_141589936	2 SubmittersRCV000275446 RCV000279353 RCV000330553 RCV000375867 RCV003761895
NM_000130.5(F5):c.4035A>G (p.Gln1345=)	SNV Germline	Chr1:169541055	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA10608311	rs_886045547	2 SubmittersRCV000270931 RCV000328997 RCV000359340 RCV000381298 RCV003595917
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)	SNV Germline	Chr1:169541141	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1233789	rs_149048805	3 SubmittersRCV000282679 RCV000293300 RCV000350323 RCV000374642 RCV004021372
NM_000130.5(F5):c.2868T>C (p.Tyr956=)	SNV Germline	Chr1:169542222	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Thrombophilia due to activated protein C resistance Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234018	rs_149067268	3 SubmittersRCV000291609 RCV000311589 RCV000346494 RCV000371229 RCV000921574 RCV003595924
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)	SNV Germline	Chr1:169542226	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Condition: not provided Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234019	rs_199507543	4 SubmittersRCV000263861 RCV000319057 RCV000353773 RCV000392785 RCV001753749 RCV002436131 RCV003761903
NM_000130.5(F5):c.738A>G (p.Thr246=)	SNV Germline	Chr1:169556860	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234517	rs_375739973	2 SubmittersRCV000267549 RCV000304922 RCV000358487 RCV000400390 RCV003761910
NM_000130.5(F5):c.111T>A (p.Ala37=)	SNV Germline	Chr1:169586276	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234737	rs_537081933	2 SubmittersRCV000270445 RCV000310449 RCV000350402 RCV000395796 RCV003761913
NM_000130.5(F5):c.*1290G>A	SNV Germline	Chr1:169513023	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome	Criteria Provided Conflicting Classifications	CA10608672	rs_9332677	1 SubmittersRCV000267944 RCV000271025 RCV000321543 RCV000357612
NM_000130.5(F5):c.*838T>C	SNV Germline	Chr1:169513475	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Factor V deficiency Budd-Chiari syndrome	Criteria Provided Conflicting Classifications	CA10608681	rs_376103455	1 SubmittersRCV000301061 RCV000304532 RCV000336029 RCV000392863
NM_000130.5(F5):c.*581C>A	SNV Germline	Chr1:169513732	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Factor V deficiency Budd-Chiari syndrome	Criteria Provided Conflicting Classifications	CA10608695	rs_180742904	1 SubmittersRCV000278416 RCV000286339 RCV000322678 RCV000338098
NM_000130.5(F5):c.5558G>T (p.Gly1853Val)	SNV Germline	Chr1:169527956	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233479	rs_182566496	3 SubmittersRCV000279701 RCV000334644 RCV000338299 RCV000401687 RCV002348033 RCV003595912
NM_000130.5(F5):c.5419+11C>G	SNV Germline	Chr1:169529597	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233509	rs_6008	2 SubmittersRCV000260433 RCV000274341 RCV000355384 RCV000368924 RCV003761892
NM_000130.5(F5):c.4972-14A>C	SNV Germline	Chr1:169531036	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233597	rs_763080313	2 SubmittersRCV000278998 RCV000303389 RCV000343414 RCV000391096 RCV003761894
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)	SNV Germline	Chr1:169540757	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Inborn genetic diseases Congenital factor V deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA1233716	rs_200204656	4 SubmittersRCV000262177 RCV000300997 RCV000368602 RCV000393067 RCV002328794 RCV003761896 RCV004720742
NM_000130.5(F5):c.3801T>C (p.Leu1267=)	SNV Germline	Chr1:169541289	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233826	rs_559683767	2 SubmittersRCV000291497 RCV000340651 RCV000344068 RCV000401577 RCV003595919
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)	SNV Germline	Chr1:169541688	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Inborn genetic diseases F5-related disorder Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233917	rs_373880789	4 SubmittersRCV000299114 RCV000300358 RCV000361040 RCV000402033 RCV002450839 RCV003949974 RCV003595921
NM_000130.5(F5):c.3255A>C (p.Thr1085=)	SNV Germline	Chr1:169541835	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233942	rs_6006	2 SubmittersRCV000301973 RCV000307720 RCV000342891 RCV000398388 RCV003761901
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)	SNV Germline	Chr1:169541879	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1233952	rs_146408488	2 SubmittersRCV000273413 RCV000272741 RCV000333121 RCV000368409 RCV003595922
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)	SNV Germline	Chr1:169550645	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234328	rs_141768227	2 SubmittersRCV000280173 RCV000283698 RCV000337616 RCV000372138 RCV003595927
NM_000130.5(F5):c.2906A>G (p.Asn969Ser)	SNV Germline	Chr1:169542184	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234009	rs_9332604	2 SubmittersRCV000285967 RCV000345503 RCV000380348 RCV000396759 RCV003595923
NM_000130.5(F5):c.1300G>A (p.Val434Met)	SNV Germline	Chr1:169550736	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234357	rs_574610215	3 SubmittersRCV000274427 RCV000309652 RCV000313059 RCV000370102 RCV002379158 RCV003761909
NM_000130.5(F5):c.524A>G (p.His175Arg)	SNV Germline	Chr1:169560616	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Thrombophilia due to thrombin defect Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234592	rs_201510575	3 SubmittersRCV000276953 RCV000317190 RCV000353339 RCV000386447 RCV000521560 RCV003595930
NM_000130.5(F5):c.1785G>A (p.Glu595=)	SNV Germline	Chr1:169544486	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234227	rs_112333778	2 SubmittersRCV000267085 RCV000289003 RCV000324528 RCV000381086 RCV003595926
NM_000130.5(F5):c.1545C>T (p.Ile515=)	SNV Germline	Chr1:169549867	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA10608726	rs_886045551	2 SubmittersRCV000273007 RCV000295314 RCV000330445 RCV000365132 RCV003761907
NM_000130.5(F5):c.165T>C (p.Asn55=)	SNV Germline	Chr1:169582516	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234703	rs_781434840	2 SubmittersRCV000267623 RCV000322657 RCV000338860 RCV000377228 RCV003595931
NM_000130.5(F5):c.1106C>T (p.Ala369Val)	SNV Germline	Chr1:169555194	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Factor V deficiency Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications	CA1234440	rs_200934105	3 SubmittersRCV000284754 RCV000288229 RCV000342054 RCV000380295 RCV000994182 RCV003595928
NM_000506.5(F2):c.45G>A (p.Leu15=)	SNV Germline	Chr11:46719280	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications	CA10630951	rs_886048333	2 SubmittersRCV000330603 RCV000375815
NM_000506.5(F2):c.317-4G>A	SNV Germline	Chr11:46723176	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications	CA5966919	rs_375713715	2 SubmittersRCV000379735 RCV000915429
NM_000506.5(F2):c.813C>T (p.Gly271=)	SNV Germline	Chr11:46726112	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency F2-related disorder	Criteria Provided Conflicting Classifications	CA5967056	rs_5899	3 SubmittersRCV000353454 RCV000883131 RCV004555552
NM_000506.5(F2):c.882C>T (p.Ala294=)	SNV Germline	Chr11:46726505	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications	CA5967101	rs_370819135	2 SubmittersRCV000323014 RCV000380002
NM_000506.5(F2):c.1628G>T (p.Arg543Leu)	SNV Germline	Chr11:46729535	Conflicting classifications of pathogenicity	Congenital prothrombin deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA5967330	rs_143064939	2 SubmittersRCV000884570 RCV000333070
NM_000506.5(F2):c.978G>A (p.Pro326=)	SNV Germline	Chr11:46726601	Conflicting classifications of pathogenicity	Congenital prothrombin deficiency Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications	CA5967118	rs_142949009	2 SubmittersRCV000291373 RCV000383386
NM_000506.5(F2):c.1621C>A (p.Arg541=)	SNV Germline	Chr11:46729528	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10635001	rs_886048338	2 SubmittersRCV000381274 RCV000329049 RCV000901429
NM_000506.5(F2):c.1815T>C (p.His605=)	SNV Germline	Chr11:46739354	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications	CA5967404	rs_368442575	2 SubmittersRCV000293256 RCV000389842
NM_000506.5(F2):c.992C>T (p.Ser331Leu)	SNV Germline	Chr11:46726615	Conflicting classifications of pathogenicity	Congenital prothrombin deficiency Thrombophilia due to thrombin defect Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5967119	rs_200812621	2 SubmittersRCV000382049 RCV000343719 RCV004975428
NM_000506.5(F2):c.798C>T (p.Asp266=)	SNV Germline	Chr11:46726097	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5967051	rs_138260543	4 SubmittersRCV000262207 RCV002468939 RCV002418154 RCV003391074
NM_000506.5(F2):c.1464G>A (p.Thr488=)	SNV Germline	Chr11:46728829	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency Inborn genetic diseases F2-related disorder	Criteria Provided Conflicting Classifications	CA5967282	rs_146742525	4 SubmittersRCV000312366 RCV000969793 RCV003165826 RCV004734967
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	SNV Germline	Chr1:11802962	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Condition: not provided Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive Schizophrenia Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_754980119	6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684
NM_000130.5(F5):c.996A>C (p.Lys332Asn)	SNV Germline	Chr1:169555304	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143509841	3 SubmittersRCV000690207 RCV001099512 RCV001099513 RCV003596500 RCV004025044
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 Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Condition: not provided Budd-Chiari syndrome Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Inborn genetic diseases Hemorrhage Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications		rs_41272455	8 SubmittersRCV000702387 RCV000763764 RCV000994167 RCV001096463 RCV001096464 RCV002222608 RCV002334358 RCV002222609 RCV003596530 RCV004752998
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)	SNV Germline	Chr1:169525971	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications		rs_1557908012	1 SubmittersRCV000778945 RCV001096268 RCV001096269
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)	SNV Germline	Chr11:46739326	Pathogenic	Thrombophilia due to thrombin defect Condition: not provided Congenital prothrombin deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_387907201	3 SubmittersRCV000853373 RCV003156298 RCV003514423
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)	SNV Germline	Chr1:169540501	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Thrombophilia due to activated protein C resistance F5-related disorder Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_6007	3 SubmittersRCV001080915 RCV001100087 RCV001100088 RCV001100085 RCV003396564 RCV003762928
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)	SNV Germline	Chr1:169529782	Conflicting classifications of pathogenicity	Condition: not provided Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Thrombocytopenia Abnormal bleeding Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications		rs_6034	6 SubmittersRCV000885721 RCV001088962 RCV001096465 RCV001098208 RCV001098209 RCV001270592 RCV003596643 RCV003975576
NM_000506.5(F2):c.843C>T (p.Gly281=)	SNV Germline	Chr11:46726142	Conflicting classifications of pathogenicity	F2-related disorder Thrombophilia due to thrombin defect Congenital prothrombin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147699032	4 SubmittersRCV004735856 RCV001103761 RCV001078548 RCV002409123
NM_000130.5(F5):c.5001G>A (p.Pro1667=)	SNV Germline	Chr1:169530993	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_747456938	2 SubmittersRCV001096569 RCV001096570 RCV001096571 RCV003596707
NM_000506.5(F2):c.495G>A (p.Thr165=)	SNV Germline	Chr11:46723454	Conflicting classifications of pathogenicity	Condition: not provided Thrombophilia due to thrombin defect Congenital prothrombin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_144857547	4 SubmittersRCV000934327 RCV001106755 RCV001106756 RCV004619458
NM_000130.5(F5):c.6193+7T>A	SNV Germline	Chr1:169520513	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_185294741	3 SubmittersRCV000953158 RCV001101583 RCV001101582 RCV003762919 RCV004584833
NM_000130.5(F5):c.*2037G>A	SNV Germline	Chr1:169512276	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency	Criteria Provided Conflicting Classifications		rs_550454517	1 SubmittersRCV001102460 RCV001102461 RCV001102462
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)	SNV Germline	Chr1:169523322	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_146312772	3 SubmittersRCV001096175 RCV001097916 RCV001097917 RCV003763808 RCV004032006
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)	SNV Germline	Chr1:169528068	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Factor V deficiency Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Condition: not provided Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_141977229	4 SubmittersRCV001101784 RCV001101785 RCV001101783 RCV001101782 RCV004546603 RCV003595690
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)	SNV Germline	Chr1:169528083	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency F5-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_138877178	4 SubmittersRCV001096366 RCV001096365 RCV001096367 RCV003763809 RCV003918670 RCV004691341
NM_000130.5(F5):c.4347G>A (p.Pro1449=)	SNV Germline	Chr1:169540743	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Factor V deficiency Thrombophilia due to thrombin defect Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_145732153	3 SubmittersRCV001102080 RCV001102082 RCV001102081 RCV003346315 RCV003763816
NM_000130.5(F5):c.3810C>G (p.Ala1270=)	SNV Germline	Chr1:169541280	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_781657137	2 SubmittersRCV001100392 RCV001100389 RCV001100390 RCV001100391 RCV003763814
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)	SNV Germline	Chr1:169543053	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Inborn genetic diseases Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_374118662	3 SubmittersRCV001099095 RCV001099096 RCV001099187 RCV002554932 RCV003763812
NM_000130.5(F5):c.1158A>G (p.Gln386=)	SNV Germline	Chr1:169552695	Conflicting classifications of pathogenicity	Factor V deficiency Budd-Chiari syndrome Thrombophilia due to thrombin defect Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_148623862	2 SubmittersRCV001101388 RCV001101387 RCV001101389 RCV003595689
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)	SNV Germline	Chr1:169555267	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Thrombophilia due to activated protein C resistance Budd-Chiari syndrome Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_746260106	2 SubmittersRCV001097723 RCV001097724 RCV001097725 RCV001097726 RCV003595687
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)	SNV Germline	Chr1:169555279	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_200532195	2 SubmittersRCV001097727 RCV001099511 RCV001099510 RCV003763811
NM_000130.5(F5):c.628C>A (p.Gln210Lys)	SNV Germline	Chr1:169559255	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Factor V deficiency Budd-Chiari syndrome Congenital factor V deficiency F5-related disorder	Criteria Provided Conflicting Classifications		rs_144937515	3 SubmittersRCV001099619 RCV001101584 RCV001101585 RCV003763813 RCV004753209
NM_000130.5(F5):c.1297-13T>C	SNV Germline	Chr1:169550752	Conflicting classifications of pathogenicity	Budd-Chiari syndrome Thrombophilia due to activated protein C resistance Thrombophilia due to thrombin defect Factor V deficiency Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_372389170	2 SubmittersRCV001097638 RCV001099401 RCV001099402 RCV001099403 RCV003763810
NM_000130.5(F5):c.586+11C>A	SNV Germline	Chr1:169560543	Conflicting classifications of pathogenicity	Factor V deficiency Thrombophilia due to thrombin defect Budd-Chiari syndrome Congenital factor V deficiency	Criteria Provided Conflicting Classifications		rs_199638362	2 SubmittersRCV001101586 RCV001101588 RCV001101587 RCV003763815
NM_000506.5(F2):c.234G>A (p.Thr78=)	SNV Germline	Chr11:46719856	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_151121282	3 SubmittersRCV001105609 RCV001105608 RCV004693631
NM_000506.5(F2):c.285G>A (p.Thr95=)	SNV Germline	Chr11:46720809	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147892497	3 SubmittersRCV001105610 RCV001105611 RCV004032110
NM_000506.5(F2):c.1298+11G>C	SNV Germline	Chr11:46728174	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications		rs_144587241	2 SubmittersRCV001106822 RCV001106823
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	SNV Germline	Chr1:11795156	Conflicting classifications of pathogenicity	Intellectual disability Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications		rs_371085894	6 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV004769976
NM_000506.5(F2):c.1621C>T (p.Arg541Trp)	SNV Germline	Chr11:46729528	Conflicting classifications of pathogenicity	Inborn genetic diseases Thrombophilia due to thrombin defect	Criteria Provided Conflicting Classifications		rs_886048338	3 SubmittersRCV001267437 RCV001810011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	SNV Germline	Chr1:11801177	Pathogenic/Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect Neural tube defects, folate-sensitive	Criteria Provided Multiple Submitters No Conflicts		rs_767890671	6 SubmittersRCV001290317 RCV002499515 RCV003462851
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)	SNV Germline	Chr1:11794389	Likely pathogenic	Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive Schizophrenia Thrombophilia due to thrombin defect	Criteria Provided Multiple Submitters No Conflicts		rs_545086633	5 SubmittersRCV001420163 RCV003463041 RCV004796633
NM_000506.5(F2):c.1298+19G>A	SNV Germline	Chr11:46728182	Conflicting classifications of pathogenicity	Thrombophilia due to thrombin defect Congenital prothrombin deficiency	Criteria Provided Conflicting Classifications		rs_753976233	2 SubmittersRCV002222130 RCV003626694
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)	SNV Germline	Chr1:11794008	Likely pathogenic	Neural tube defects, folate-sensitive Schizophrenia Homocystinuria due to methylene tetrahydrofolate reductase deficiency Thrombophilia due to thrombin defect	Criteria Provided Single Submitter			1 SubmittersRCV004795439

NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)

SNV
Germline

Chr1:11801166

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278053

rs_121434295

6 SubmittersRCV001382824 RCV002476918 RCV003460410 RCV004719616

NM_000506.3(F2):c.598G>A (p.Glu200Lys)

SNV
Germline

Chr11:46725897

Conflicting classifications of pathogenicity; risk factor

PROTHROMBIN TYPE 3
Condition: not provided
Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Cerebral palsy

Criteria Provided
Conflicting Classifications

CA090909

rs_62623459

7 SubmittersRCV000014229 RCV000994617 RCV001108918 RCV001108917 RCV001794445

NM_000506.5(F2):c.*97G>A

SNV
Germline

Chr11:46739505

Pathogenic/Likely pathogenic/Pathogenic, low penetrance; risk factor

Thrombophilia due to thrombin defect
Pregnancy loss, recurrent, susceptibility to, 2
Ischemic stroke
Congenital prothrombin deficiency
Venous thromboembolism
Condition: not provided
Cerebral palsy
Thrombophilia caused by F2 prothrombin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA325636

rs_1799963

23 SubmittersRCV000014237 RCV000022729 RCV000014238 RCV000205022 RCV000826090 RCV001091960 RCV001794446 RCV002468555

NM_000506.5(F2):c.1787G>T (p.Arg596Leu)

SNV
Germline

Chr11:46739326

Pathogenic

Thrombophilia due to thrombin defect

No Assertion Criteria Provided

CA342808

rs_387907201

2 SubmittersRCV000024607

NM_005957.5(MTHFR):c.1632+2T>G

SNV
Germline

Chr1:11792276

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198643

rs_749765738

6 SubmittersRCV000167617 RCV001753577 RCV002492678 RCV003468815

NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)

SNV
Germline

Chr1:11794385

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

CA198633

rs_367585605

4 SubmittersRCV000167613 RCV002498831 RCV003462250

NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)

SNV
Germline

Chr1:11800250

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect

Criteria Provided
Multiple Submitters
No Conflicts

CA198586

rs_574132670

8 SubmittersRCV000167596 RCV000993916 RCV003468813 RCV004786480

NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr1:11792354

Conflicting classifications of pathogenicity

Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
MTHFR-related disorder

Criteria Provided
Conflicting Classifications

CA239275

rs_45449298

7 SubmittersRCV000173820 RCV001081882 RCV000763727 RCV003947466

NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)

SNV
Germline

Chr1:11801220

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect
not specified
Neural tube defects, folate-sensitive

Criteria Provided
Conflicting Classifications

CA16044133

rs_1057519360

5 SubmittersRCV000416816 RCV002503824 RCV003235132 RCV003468969

NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)

SNV
Germline

Chr1:169530817

Conflicting classifications of pathogenicity

not specified
Factor V deficiency
Thrombophilia due to thrombin defect
Budd-Chiari syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233564

rs_369516642

3 SubmittersRCV000248189 RCV001098212 RCV001098210 RCV001098211 RCV003352815

NM_000506.5(F2):c.1602G>A (p.Pro534=)

SNV
Germline

Chr11:46729509

Conflicting classifications of pathogenicity

not specified
Congenital prothrombin deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA5967326

rs_5900

3 SubmittersRCV000252009 RCV000271684 RCV000359671

NM_000506.5(F2):c.1824C>T (p.Arg608=)

SNV
Germline

Chr11:46739363

Conflicting classifications of pathogenicity

not specified
Congenital prothrombin deficiency
Thrombophilia due to thrombin defect
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5967408

rs_3136532

5 SubmittersRCV000243833 RCV001103849 RCV001103850 RCV000952961 RCV002411113

NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)

SNV
Germline

Chr1:11796313

Conflicting classifications of pathogenicity

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Schizophrenia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200100285

4 SubmittersRCV001894913 RCV002468946 RCV002506924 RCV004691452

NM_000130.5(F5):c.*1488T>C

SNV
Germline

Chr1:169512825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608137

rs_75764442

1 SubmittersRCV000283794 RCV000324410 RCV000328363 RCV000379055

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

SNV
Germline

Chr1:169527925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233475

rs_148772659

3 SubmittersRCV000287942 RCV000326600 RCV000332303 RCV000389293 RCV003595911 RCV004021370

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
Thrombophilia due to activated protein C resistance
Inborn genetic diseases
Congenital factor V deficiency
F5-related disorder

Criteria Provided
Conflicting Classifications

CA1233487

rs_149092241

4 SubmittersRCV000269860 RCV000275851 RCV000306495 RCV000364640 RCV002348034 RCV003595913 RCV003949973

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

SNV
Germline

Chr1:169530940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233580

rs_6011

6 SubmittersRCV000269935 RCV000294734 RCV000364575 RCV000388806 RCV000885722 RCV001270593 RCV003595915 RCV003967826

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

SNV
Germline

Chr1:169540685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233700

rs_144262027

2 SubmittersRCV000285155 RCV000315692 RCV000379582 RCV000390351 RCV003595916

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

SNV
Germline

Chr1:169541239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233810

rs_139573207

2 SubmittersRCV000276520 RCV000275198 RCV000318613 RCV000367480 RCV003595918

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

SNV
Germline

Chr1:169541648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233909

rs_369276714

2 SubmittersRCV000265941 RCV000288157 RCV000327944 RCV000384835 RCV003761899

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

SNV
Germline

Chr1:169542868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234128

rs_144979314

6 SubmittersRCV000260117 RCV000319985 RCV000332909 RCV000373517 RCV002292439 RCV002429244 RCV003761906 RCV003930208

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

SNV
Germline

Chr1:169555266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234449

rs_201078171

2 SubmittersRCV000311333 RCV000314889 RCV000396625 RCV000401373

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

SNV
Germline

Chr1:169556713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234491

rs_148752831

3 SubmittersRCV000293920 RCV000290504 RCV000347873 RCV000386101 RCV003595929 RCV003897666

NM_000130.5(F5):c.*476C>T

SNV
Germline

Chr1:169513837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608286

rs_72708017

1 SubmittersRCV000293862 RCV000313750 RCV000348784 RCV000407222

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

SNV
Germline

Chr1:169515612

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233237

rs_757104503

2 SubmittersRCV000260335 RCV000266136 RCV000323627 RCV000361958 RCV003761888

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

SNV
Germline

Chr1:169518448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233268

rs_35369423

4 SubmittersRCV000282703 RCV000330654 RCV000374331 RCV000387460 RCV000961008 RCV002365337 RCV003761889

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

SNV
Germline

Chr1:169524833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233405

rs_759428783

2 SubmittersRCV000297071 RCV000302944 RCV000405635 RCV000408234 RCV003595910

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

SNV
Germline

Chr1:169530870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233571

rs_199568344

3 SubmittersRCV000264323 RCV000304235 RCV000328794 RCV000408149 RCV003352827 RCV003595914

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

SNV
Germline

Chr1:169536642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233629

rs_141589936

2 SubmittersRCV000275446 RCV000279353 RCV000330553 RCV000375867 RCV003761895

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

SNV
Germline

Chr1:169541055

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608311

rs_886045547

2 SubmittersRCV000270931 RCV000328997 RCV000359340 RCV000381298 RCV003595917

NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)

SNV
Germline

Chr1:169541141

Conflicting classifications of pathogenicity

Budd-Chiari syndrome
Thrombophilia due to activated protein C resistance
Factor V deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1233789

rs_149048805

3 SubmittersRCV000282679 RCV000293300 RCV000350323 RCV000374642 RCV004021372

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

SNV
Germline

Chr1:169542222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234018

rs_149067268

3 SubmittersRCV000291609 RCV000311589 RCV000346494 RCV000371229 RCV000921574 RCV003595924

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

SNV
Germline

Chr1:169542226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234019

rs_199507543

4 SubmittersRCV000263861 RCV000319057 RCV000353773 RCV000392785 RCV001753749 RCV002436131 RCV003761903

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

SNV
Germline

Chr1:169556860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234517

rs_375739973

2 SubmittersRCV000267549 RCV000304922 RCV000358487 RCV000400390 RCV003761910

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

SNV
Germline

Chr1:169586276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234737

rs_537081933

2 SubmittersRCV000270445 RCV000310449 RCV000350402 RCV000395796 RCV003761913

NM_000130.5(F5):c.*1290G>A

SNV
Germline

Chr1:169513023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608672

rs_9332677

1 SubmittersRCV000267944 RCV000271025 RCV000321543 RCV000357612

NM_000130.5(F5):c.*838T>C

SNV
Germline

Chr1:169513475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608681

rs_376103455

1 SubmittersRCV000301061 RCV000304532 RCV000336029 RCV000392863

NM_000130.5(F5):c.*581C>A

SNV
Germline

Chr1:169513732

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608695

rs_180742904

1 SubmittersRCV000278416 RCV000286339 RCV000322678 RCV000338098

NM_000130.5(F5):c.5558G>T (p.Gly1853Val)

SNV
Germline

Chr1:169527956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233479

rs_182566496

3 SubmittersRCV000279701 RCV000334644 RCV000338299 RCV000401687 RCV002348033 RCV003595912

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

SNV
Germline

Chr1:169529597

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233509

rs_6008

2 SubmittersRCV000260433 RCV000274341 RCV000355384 RCV000368924 RCV003761892

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

SNV
Germline

Chr1:169531036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233597

rs_763080313

2 SubmittersRCV000278998 RCV000303389 RCV000343414 RCV000391096 RCV003761894

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

SNV
Germline

Chr1:169540757

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233716

rs_200204656

4 SubmittersRCV000262177 RCV000300997 RCV000368602 RCV000393067 RCV002328794 RCV003761896 RCV004720742

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

SNV
Germline

Chr1:169541289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233826

rs_559683767

2 SubmittersRCV000291497 RCV000340651 RCV000344068 RCV000401577 RCV003595919

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

SNV
Germline

Chr1:169541688

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233917

rs_373880789

4 SubmittersRCV000299114 RCV000300358 RCV000361040 RCV000402033 RCV002450839 RCV003949974 RCV003595921

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

SNV
Germline

Chr1:169541835

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233942

rs_6006

2 SubmittersRCV000301973 RCV000307720 RCV000342891 RCV000398388 RCV003761901

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

SNV
Germline

Chr1:169541879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1233952

rs_146408488

2 SubmittersRCV000273413 RCV000272741 RCV000333121 RCV000368409 RCV003595922

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

SNV
Germline

Chr1:169550645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234328

rs_141768227

2 SubmittersRCV000280173 RCV000283698 RCV000337616 RCV000372138 RCV003595927

NM_000130.5(F5):c.2906A>G (p.Asn969Ser)

SNV
Germline

Chr1:169542184

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234009

rs_9332604

2 SubmittersRCV000285967 RCV000345503 RCV000380348 RCV000396759 RCV003595923

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

SNV
Germline

Chr1:169550736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234357

rs_574610215

3 SubmittersRCV000274427 RCV000309652 RCV000313059 RCV000370102 RCV002379158 RCV003761909

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

SNV
Germline

Chr1:169560616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234592

rs_201510575

3 SubmittersRCV000276953 RCV000317190 RCV000353339 RCV000386447 RCV000521560 RCV003595930

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

SNV
Germline

Chr1:169544486

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234227

rs_112333778

2 SubmittersRCV000267085 RCV000289003 RCV000324528 RCV000381086 RCV003595926

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

SNV
Germline

Chr1:169549867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10608726

rs_886045551

2 SubmittersRCV000273007 RCV000295314 RCV000330445 RCV000365132 RCV003761907

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

SNV
Germline

Chr1:169582516

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234703

rs_781434840

2 SubmittersRCV000267623 RCV000322657 RCV000338860 RCV000377228 RCV003595931

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

SNV
Germline

Chr1:169555194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1234440

rs_200934105

3 SubmittersRCV000284754 RCV000288229 RCV000342054 RCV000380295 RCV000994182 RCV003595928

NM_000506.5(F2):c.45G>A (p.Leu15=)

SNV
Germline

Chr11:46719280

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

CA10630951

rs_886048333

2 SubmittersRCV000330603 RCV000375815

NM_000506.5(F2):c.317-4G>A

SNV
Germline

Chr11:46723176

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

CA5966919

rs_375713715

2 SubmittersRCV000379735 RCV000915429

NM_000506.5(F2):c.813C>T (p.Gly271=)

SNV
Germline

Chr11:46726112

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
F2-related disorder

Criteria Provided
Conflicting Classifications

CA5967056

rs_5899

3 SubmittersRCV000353454 RCV000883131 RCV004555552

NM_000506.5(F2):c.882C>T (p.Ala294=)

SNV
Germline

Chr11:46726505

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

CA5967101

rs_370819135

2 SubmittersRCV000323014 RCV000380002

NM_000506.5(F2):c.1628G>T (p.Arg543Leu)

SNV
Germline

Chr11:46729535

Conflicting classifications of pathogenicity

Congenital prothrombin deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA5967330

rs_143064939

2 SubmittersRCV000884570 RCV000333070

NM_000506.5(F2):c.978G>A (p.Pro326=)

SNV
Germline

Chr11:46726601

Conflicting classifications of pathogenicity

Congenital prothrombin deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

CA5967118

rs_142949009

2 SubmittersRCV000291373 RCV000383386

NM_000506.5(F2):c.1621C>A (p.Arg541=)

SNV
Germline

Chr11:46729528

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10635001

rs_886048338

2 SubmittersRCV000381274 RCV000329049 RCV000901429

NM_000506.5(F2):c.1815T>C (p.His605=)

SNV
Germline

Chr11:46739354

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

CA5967404

rs_368442575

2 SubmittersRCV000293256 RCV000389842

NM_000506.5(F2):c.992C>T (p.Ser331Leu)

SNV
Germline

Chr11:46726615

Conflicting classifications of pathogenicity

Congenital prothrombin deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5967119

rs_200812621

2 SubmittersRCV000382049 RCV000343719 RCV004975428

NM_000506.5(F2):c.798C>T (p.Asp266=)

SNV
Germline

Chr11:46726097

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5967051

rs_138260543

4 SubmittersRCV000262207 RCV002468939 RCV002418154 RCV003391074

NM_000506.5(F2):c.1464G>A (p.Thr488=)

SNV
Germline

Chr11:46728829

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Inborn genetic diseases
F2-related disorder

Criteria Provided
Conflicting Classifications

CA5967282

rs_146742525

4 SubmittersRCV000312366 RCV000969793 RCV003165826 RCV004734967

NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)

SNV
Germline

Chr1:11802962

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Condition: not provided
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive
Schizophrenia
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_754980119

6 SubmittersRCV000690846 RCV002245591 RCV002477553 RCV003459684

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

SNV
Germline

Chr1:169555304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_143509841

3 SubmittersRCV000690207 RCV001099512 RCV001099513 RCV003596500 RCV004025044

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

Criteria Provided
Conflicting Classifications

rs_41272455

8 SubmittersRCV000702387 RCV000763764 RCV000994167 RCV001096463 RCV001096464 RCV002222608 RCV002334358 RCV002222609 RCV003596530 RCV004752998

NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)

SNV
Germline

Chr1:169525971

Conflicting classifications of pathogenicity

Factor V deficiency
Thrombophilia due to activated protein C resistance
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

rs_1557908012

1 SubmittersRCV000778945 RCV001096268 RCV001096269

NM_000506.5(F2):c.1787G>A (p.Arg596Gln)

SNV
Germline

Chr11:46739326

Pathogenic

Thrombophilia due to thrombin defect
Condition: not provided
Congenital prothrombin deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_387907201

3 SubmittersRCV000853373 RCV003156298 RCV003514423

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

SNV
Germline

Chr1:169540501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_6007

3 SubmittersRCV001080915 RCV001100087 RCV001100088 RCV001100085 RCV003396564 RCV003762928

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

SNV
Germline

Chr1:169529782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_6034

6 SubmittersRCV000885721 RCV001088962 RCV001096465 RCV001098208 RCV001098209 RCV001270592 RCV003596643 RCV003975576

NM_000506.5(F2):c.843C>T (p.Gly281=)

SNV
Germline

Chr11:46726142

Conflicting classifications of pathogenicity

F2-related disorder
Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147699032

4 SubmittersRCV004735856 RCV001103761 RCV001078548 RCV002409123

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

SNV
Germline

Chr1:169530993

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_747456938

2 SubmittersRCV001096569 RCV001096570 RCV001096571 RCV003596707

NM_000506.5(F2):c.495G>A (p.Thr165=)

SNV
Germline

Chr11:46723454

Conflicting classifications of pathogenicity

Condition: not provided
Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144857547

4 SubmittersRCV000934327 RCV001106755 RCV001106756 RCV004619458

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

SNV
Germline

Chr1:169520513

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_185294741

3 SubmittersRCV000953158 RCV001101583 RCV001101582 RCV003762919 RCV004584833

NM_000130.5(F5):c.*2037G>A

SNV
Germline

Chr1:169512276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_550454517

1 SubmittersRCV001102460 RCV001102461 RCV001102462

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

SNV
Germline

Chr1:169523322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146312772

3 SubmittersRCV001096175 RCV001097916 RCV001097917 RCV003763808 RCV004032006

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

SNV
Germline

Chr1:169528068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_141977229

4 SubmittersRCV001101784 RCV001101785 RCV001101783 RCV001101782 RCV004546603 RCV003595690

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

SNV
Germline

Chr1:169528083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138877178

4 SubmittersRCV001096366 RCV001096365 RCV001096367 RCV003763809 RCV003918670 RCV004691341

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

SNV
Germline

Chr1:169540743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_145732153

3 SubmittersRCV001102080 RCV001102082 RCV001102081 RCV003346315 RCV003763816

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

SNV
Germline

Chr1:169541280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781657137

2 SubmittersRCV001100392 RCV001100389 RCV001100390 RCV001100391 RCV003763814

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

SNV
Germline

Chr1:169543053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374118662

3 SubmittersRCV001099095 RCV001099096 RCV001099187 RCV002554932 RCV003763812

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

SNV
Germline

Chr1:169552695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_148623862

2 SubmittersRCV001101388 RCV001101387 RCV001101389 RCV003595689

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

SNV
Germline

Chr1:169555267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_746260106

2 SubmittersRCV001097723 RCV001097724 RCV001097725 RCV001097726 RCV003595687

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

SNV
Germline

Chr1:169555279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200532195

2 SubmittersRCV001097727 RCV001099511 RCV001099510 RCV003763811

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

SNV
Germline

Chr1:169559255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144937515

3 SubmittersRCV001099619 RCV001101584 RCV001101585 RCV003763813 RCV004753209

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

SNV
Germline

Chr1:169550752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372389170

2 SubmittersRCV001097638 RCV001099401 RCV001099402 RCV001099403 RCV003763810

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

SNV
Germline

Chr1:169560543

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199638362

2 SubmittersRCV001101586 RCV001101588 RCV001101587 RCV003763815

NM_000506.5(F2):c.234G>A (p.Thr78=)

SNV
Germline

Chr11:46719856

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_151121282

3 SubmittersRCV001105609 RCV001105608 RCV004693631

NM_000506.5(F2):c.285G>A (p.Thr95=)

SNV
Germline

Chr11:46720809

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147892497

3 SubmittersRCV001105610 RCV001105611 RCV004032110

NM_000506.5(F2):c.1298+11G>C

SNV
Germline

Chr11:46728174

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

rs_144587241

2 SubmittersRCV001106822 RCV001106823

NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)

SNV
Germline

Chr1:11795156

Conflicting classifications of pathogenicity

Intellectual disability
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

rs_371085894

6 SubmittersRCV001252318 RCV001786456 RCV003469485 RCV004769976

NM_000506.5(F2):c.1621C>T (p.Arg541Trp)

SNV
Germline

Chr11:46729528

Conflicting classifications of pathogenicity

Inborn genetic diseases
Thrombophilia due to thrombin defect

Criteria Provided
Conflicting Classifications

rs_886048338

3 SubmittersRCV001267437 RCV001810011

NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)

SNV
Germline

Chr1:11801177

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect
Neural tube defects, folate-sensitive

Criteria Provided
Multiple Submitters
No Conflicts

rs_767890671

6 SubmittersRCV001290317 RCV002499515 RCV003462851

NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)

SNV
Germline

Chr1:11794389

Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Schizophrenia
Thrombophilia due to thrombin defect

Criteria Provided
Multiple Submitters
No Conflicts

rs_545086633

5 SubmittersRCV001420163 RCV003463041 RCV004796633

NM_000506.5(F2):c.1298+19G>A

SNV
Germline

Chr11:46728182

Conflicting classifications of pathogenicity

Thrombophilia due to thrombin defect
Congenital prothrombin deficiency

Criteria Provided
Conflicting Classifications

rs_753976233

2 SubmittersRCV002222130 RCV003626694

NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)

SNV
Germline

Chr1:11794008

Likely pathogenic

Neural tube defects, folate-sensitive
Schizophrenia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Thrombophilia due to thrombin defect

Criteria Provided
Single Submitter

1 SubmittersRCV004795439