Sugi Variant

Sugi Variant/F5

F5 — 1433 ClinVar variants

All ClinVar germline F5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 510 flagged for review →

58 Pathogenic · 15 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 98 Conflicting · 106 Benign · 53 Benign/Likely benign · 539 Likely benign · 524 Uncertain significance

Full F5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 510

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 48

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 341

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 341

Predictors split 119

The independent predictors disagree with each other — read with care.

All F5 variants

Pathogenic 58

  • p.Arg1030Ter Multiple submitters congenital factor V deficiency
  • p.Asp96His Multiple submitters congenital factor V deficiency
  • p.Gly420Cys Multiple submitters congenital factor V deficiency
  • p.Ser1680fs Multiple submitters congenital factor V deficiency
  • p.Ala1569Ter Single submitter congenital factor V deficiency
  • p.Arg1005fs Single submitter congenital factor V deficiency
  • p.Arg1715Ter Single submitter congenital factor V deficiency
  • p.Arg1789Ter Single submitter factor V deficiency
  • p.Arg2202Cys Single submitter congenital factor V deficiency
  • p.Arg534Ter Single submitter congenital factor V deficiency
  • p.Arg872fs Single submitter factor V deficiency
  • p.Cys329Ter Single submitter congenital factor V deficiency
  • p.Gln1489Ter Single submitter congenital factor V deficiency
  • p.Gln2031Ter Single submitter congenital factor V deficiency
  • p.Gln537Ter Single submitter congenital factor V deficiency
  • p.Gln801Ter Single submitter factor V deficiency
  • p.Gln841fs Single submitter congenital factor V deficiency
  • p.Gln841Ter Single submitter factor V deficiency
  • p.Glu1158fs Single submitter congenital factor V deficiency
  • p.Glu1178Ter Single submitter congenital factor V deficiency
  • p.Glu1696Ter Single submitter congenital factor V deficiency
  • p.Glu1822Ter Single submitter factor V deficiency
  • p.Glu200fs Single submitter congenital factor V deficiency
  • p.Gly1754fs Single submitter congenital factor V deficiency
  • p.Gly449Ter Single submitter congenital factor V deficiency
  • p.Gly867Ter Single submitter Fanconi anaemia or Bloom syndrome
  • p.Leu1366fs Single submitter factor V deficiency
  • p.Lys1801fs Single submitter factor V deficiency
  • p.Lys327Ter Single submitter congenital factor V deficiency
  • p.Met2016Ile Single submitter congenital factor V deficiency
  • p.Phe218Ser Single submitter congenital factor V deficiency
  • p.Phe452fs Single submitter congenital factor V deficiency
  • p.Pro1404fs Single submitter congenital factor V deficiency
  • p.Pro1440fs Single submitter congenital factor V deficiency
  • p.Pro47fs Single submitter congenital factor V deficiency
  • p.Pro927fs Single submitter congenital factor V deficiency
  • p.Ser1304fs Single submitter congenital factor V deficiency
  • p.Ser1362fs Single submitter congenital factor V deficiency
  • p.Ser158delinsLysTyrGlnTer Single submitter congenital factor V deficiency
  • p.Ser52Ter Single submitter congenital factor V deficiency
  • p.Ser743Ter Single submitter congenital factor V deficiency
  • p.Ser937fs Single submitter congenital factor V deficiency
  • p.Thr1108fs Single submitter congenital factor V deficiency
  • p.Thr915fs Single submitter congenital factor V deficiency
  • p.Trp1882Ter Single submitter congenital factor V deficiency
  • p.Trp982Ter Single submitter congenital factor V deficiency
  • p.Tyr119Ter Single submitter congenital factor V deficiency
  • p.Tyr1550fs Single submitter
  • p.Tyr1931Ter Single submitter congenital factor V deficiency
  • p.Val1841Met Single submitter congenital factor V deficiency ⚠
  • p.Ala1568fs No assertion criteria factor V deficiency
  • p.Arg1063fs No assertion criteria
  • p.Arg1161Ter No assertion criteria factor V deficiency
  • p.Glu147Ter No assertion criteria thrombophilia due to activated protein C resistance
  • p.Glu1798Lys No assertion criteria ⚠
  • p.Ile387Thr No assertion criteria thrombophilia due to activated protein C resistance ⚠
  • p.Lys348fs No assertion criteria factor V deficiency
  • p.Ser1308fs No assertion criteria factor V deficiency

Pathogenic/Likely pathogenic 15

  • c.1297-2A>G Multiple submitters congenital factor V deficiency
  • p.Arg146Ter Multiple submitters congenital factor V deficiency
  • p.Arg1621Ter Multiple submitters congenital factor V deficiency
  • p.Arg1634Ter Multiple submitters congenital factor V deficiency
  • p.Arg2102His Multiple submitters F5-related disorders
  • p.Arg740Ter Multiple submitters factor V deficiency
  • p.Glu1216Ter Multiple submitters congenital factor V deficiency
  • p.His611fs Multiple submitters factor V deficiency
  • p.Ile847fs Multiple submitters factor V deficiency
  • p.Leu1267fs Multiple submitters pregnancy loss, recurrent, susceptibility to, 1
  • p.Leu1818fs Multiple submitters congenital factor V deficiency
  • p.Lys674fs Multiple submitters congenital factor V deficiency
  • p.Ser1802fs Multiple submitters congenital factor V deficiency
  • p.Ser955fs Multiple submitters factor V deficiency
  • p.Tyr1730Cys Multiple submitters congenital factor V deficiency

Likely pathogenic 40

  • c.4962_4971+3del Multiple submitters congenital factor V deficiency
  • p.Gly2220Cys Multiple submitters congenital factor V deficiency
  • c.1297-1G>C Single submitter thrombophilia due to activated protein C resistance
  • c.1396+2T>C Single submitter congenital factor V deficiency
  • c.158+1G>A Single submitter congenital factor V deficiency
  • c.373+1G>A Single submitter congenital factor V deficiency
  • c.374-2del Single submitter congenital factor V deficiency
  • c.5209-2A>G Single submitter congenital factor V deficiency
  • c.5420-63_5554delinsG Single submitter congenital factor V deficiency
  • c.5789-1G>A Single submitter congenital factor V deficiency
  • c.5789-1G>T Single submitter congenital factor V deficiency
  • c.6193+1G>A Single submitter congenital factor V deficiency
  • c.731-2A>T Single submitter congenital factor V deficiency
  • c.953-1G>A Single submitter congenital factor V deficiency
  • p.Ala540Val Single submitter congenital factor V deficiency ⚠
  • p.Arg2102Cys Single submitter factor V deficiency
  • p.Asn1057fs Single submitter factor V deficiency
  • p.Asn1347fs Single submitter
  • p.Cys2061Tyr Single submitter congenital factor V deficiency
  • p.Gln1192_Val1193insTer Single submitter factor V deficiency
  • p.Gln1399Ter Single submitter congenital factor V deficiency
  • p.Gln1435Ter Single submitter F5-related disorders
  • p.Glu908Ter Single submitter congenital factor V deficiency
  • p.Gly145fs Single submitter
  • p.Ile2196fs Single submitter thrombophilia due to activated protein C resistance
  • p.Leu1939Ter Single submitter thrombophilia due to activated protein C resistance
  • p.Leu810fs Single submitter
  • p.Leu949fs Single submitter thrombophilia due to activated protein C resistance
  • p.Met138fs Single submitter thrombophilia due to activated protein C resistance
  • p.Phe353fs Single submitter thrombophilia due to activated protein C resistance
  • p.Ser262Leu Single submitter F5-related disorders ⚠
  • p.Trp557Cys Single submitter factor V deficiency
  • p.Tyr232Ter Single submitter factor V deficiency
  • p.Tyr558Cys Single submitter factor V deficiency
  • p.Tyr558Ser Single submitter congenital factor V deficiency
  • p.Tyr558Ter Single submitter factor V deficiency
  • p.Tyr693Ter Single submitter thrombophilia due to activated protein C resistance
  • p.Val427= Single submitter
  • p.Gln2121Ter No assertion criteria F5-related disorder
  • p.Trp1962Ter No assertion criteria F5-related disorder

Conflicting classifications of pathogenicity 98

Benign 106

Benign/Likely benign 53

  • c.1297-15G>A Multiple submitters congenital factor V deficiency
  • c.158+13T>C Multiple submitters factor V deficiency
  • c.1612-9G>T Multiple submitters congenital factor V deficiency
  • c.251-6del Multiple submitters congenital factor V deficiency
  • c.5419+11C>T Multiple submitters Budd-Chiari syndrome
  • c.5419+12A>G Multiple submitters thrombophilia due to thrombin defect
  • c.5717-4A>G Multiple submitters congenital factor V deficiency
  • c.730+7C>T Multiple submitters congenital factor V deficiency
  • p.Ala135= Multiple submitters thrombophilia due to thrombin defect
  • p.Arg1908Lys Multiple submitters congenital factor V deficiency
  • p.Arg513= Multiple submitters Inborn genetic diseases
  • p.Asn272= Multiple submitters thrombophilia due to thrombin defect
  • p.Asn460= Multiple submitters thrombophilia due to thrombin defect
  • p.Asn745= Multiple submitters thrombophilia due to thrombin defect
  • p.Asn817Thr Multiple submitters thrombophilia due to thrombin defect
  • p.Asn969Ser Multiple submitters thrombophilia due to thrombin defect
  • p.Asp107His Multiple submitters thrombophilia due to thrombin defect
  • p.Asp1521= Multiple submitters congenital factor V deficiency
  • p.Asp2222Gly Multiple submitters congenital factor V deficiency
  • p.Gln79= Multiple submitters congenital factor V deficiency
  • p.Glu572= Multiple submitters thrombophilia due to thrombin defect
  • p.Glu714= Multiple submitters Inborn genetic diseases
  • p.Glu763= Multiple submitters thrombophilia due to thrombin defect
  • p.Gly15Ser Multiple submitters thrombophilia due to thrombin defect
  • p.Gly1674= Multiple submitters Budd-Chiari syndrome
  • p.Gly1853Val Multiple submitters thrombophilia due to thrombin defect
  • p.His1146Gln Multiple submitters factor V deficiency
  • p.His1327Arg Multiple submitters congenital factor V deficiency ⚠
  • p.His1983= Multiple submitters Inborn genetic diseases
  • p.His710Arg Multiple submitters congenital factor V deficiency
  • p.His865Arg Multiple submitters thrombophilia due to thrombin defect
  • p.Ile736= Multiple submitters thrombophilia due to thrombin defect
  • p.Leu1285Ile Multiple submitters thrombophilia due to thrombin defect ⚠
  • p.Leu1316= Multiple submitters thrombophilia due to thrombin defect
  • p.Leu1397Phe Multiple submitters congenital factor V deficiency
  • p.Leu1641= Multiple submitters Inborn genetic diseases
  • p.Lys2185Arg Multiple submitters congenital factor V deficiency
  • p.Lys414= Multiple submitters congenital factor V deficiency
  • p.Lys925Glu Multiple submitters congenital factor V deficiency
  • p.Met1820Ile Multiple submitters thrombophilia due to thrombin defect ⚠
  • p.Met2148Thr Multiple submitters thrombophilia due to thrombin defect ⚠
  • p.Met413Thr Multiple submitters thrombophilia due to thrombin defect
  • p.Pro1404Ser Multiple submitters Budd-Chiari syndrome
  • p.Pro809Ser Multiple submitters congenital factor V deficiency
  • p.Ser1268= Multiple submitters thrombophilia due to thrombin defect
  • p.Ser184= Multiple submitters thrombophilia due to thrombin defect
  • p.Ser767= Multiple submitters thrombophilia due to thrombin defect
  • p.Thr1168= Multiple submitters Inborn genetic diseases
  • p.Thr1365= Multiple submitters thrombophilia due to thrombin defect
  • p.Thr1898= Multiple submitters Inborn genetic diseases
  • p.Thr642= Multiple submitters thrombophilia due to thrombin defect
  • p.Thr915Ser Multiple submitters Budd-Chiari syndrome
  • c.*376A>T Single submitter factor V deficiency

Likely benign 539

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1612-16C>A Multiple submitters congenital factor V deficiency
  • c.5716+10G>A Multiple submitters congenital factor V deficiency
  • c.586+15A>G Multiple submitters congenital factor V deficiency
  • p.Ala1664= Multiple submitters Inborn genetic diseases
  • p.Ala797= Multiple submitters congenital factor V deficiency
  • p.Ala981= Multiple submitters congenital factor V deficiency
  • p.Arg2215= Multiple submitters congenital factor V deficiency
  • p.Asn1423= Multiple submitters congenital factor V deficiency
  • p.Asn1499= Multiple submitters Inborn genetic diseases
  • p.Asn554= Multiple submitters Inborn genetic diseases
  • p.Asp1081= Multiple submitters Inborn genetic diseases
  • p.Asp1207= Multiple submitters Inborn genetic diseases
  • p.Asp1234= Multiple submitters congenital factor V deficiency
  • p.Asp140= Multiple submitters congenital factor V deficiency
  • p.Asp1547= Multiple submitters congenital factor V deficiency
  • p.Asp362= Multiple submitters Inborn genetic diseases
  • p.Asp689= Multiple submitters congenital factor V deficiency
  • p.Asp961= Multiple submitters congenital factor V deficiency
  • p.Gln1013= Multiple submitters Inborn genetic diseases
  • p.Gln1318Lys Multiple submitters congenital factor V deficiency ⚠
  • p.Gln1381= Multiple submitters congenital factor V deficiency
  • p.Glu2163= Multiple submitters Inborn genetic diseases
  • p.Glu458= Multiple submitters congenital factor V deficiency
  • p.Glu837= Multiple submitters congenital factor V deficiency
  • p.Gly1717= Multiple submitters Inborn genetic diseases
  • p.Gly1754= Multiple submitters congenital factor V deficiency
  • p.Gly945= Multiple submitters congenital factor V deficiency
  • p.His170= Multiple submitters Inborn genetic diseases
  • p.His637= Multiple submitters Inborn genetic diseases
  • p.Leu1009= Multiple submitters congenital factor V deficiency
  • p.Leu1352= Multiple submitters congenital factor V deficiency
  • p.Leu1375= Multiple submitters congenital factor V deficiency
  • p.Leu1406= Multiple submitters Inborn genetic diseases
  • p.Leu1503= Multiple submitters congenital factor V deficiency
  • p.Leu1624= Multiple submitters congenital factor V deficiency
  • p.Leu1818= Multiple submitters Inborn genetic diseases
  • p.Leu191= Multiple submitters congenital factor V deficiency
  • p.Lys877= Multiple submitters Inborn genetic diseases
  • p.Lys953= Multiple submitters Inborn genetic diseases
  • p.Phe133= Multiple submitters congenital factor V deficiency
  • p.Pro1230= Multiple submitters congenital factor V deficiency
  • p.Pro1356= Multiple submitters congenital factor V deficiency
  • p.Pro302= Multiple submitters congenital factor V deficiency
  • p.Pro504= Multiple submitters congenital factor V deficiency
  • p.Pro809= Multiple submitters congenital factor V deficiency
  • p.Ser1067= Multiple submitters Inborn genetic diseases
  • p.Ser1430= Multiple submitters congenital factor V deficiency
  • p.Ser2172= Multiple submitters Inborn genetic diseases
  • p.Ser902= Multiple submitters Inborn genetic diseases
  • p.Thr1184= Multiple submitters Inborn genetic diseases
  • p.Thr132= Multiple submitters Inborn genetic diseases
  • p.Thr206= Multiple submitters Inborn genetic diseases
  • p.Thr2134= Multiple submitters Inborn genetic diseases
  • p.Thr623= Multiple submitters congenital factor V deficiency
  • p.Thr640= Multiple submitters congenital factor V deficiency
  • p.Thr652= Multiple submitters congenital factor V deficiency
  • p.Tyr1994= Multiple submitters congenital factor V deficiency
  • p.Tyr592= Multiple submitters congenital factor V deficiency
  • p.Val1554= Multiple submitters Inborn genetic diseases
  • p.Val788= Multiple submitters Inborn genetic diseases
  • p.Val94= Multiple submitters congenital factor V deficiency
  • c.1118+12G>C Single submitter congenital factor V deficiency
  • c.1118+13G>A Single submitter congenital factor V deficiency
  • c.1118+18A>G Single submitter congenital factor V deficiency
  • c.1118+8G>T Single submitter congenital factor V deficiency
  • c.1119-11T>C Single submitter congenital factor V deficiency
  • c.1119-12C>T Single submitter congenital factor V deficiency
  • c.1119-14T>A Single submitter congenital factor V deficiency
  • c.1119-9_1119-8insT Single submitter congenital factor V deficiency
  • c.1119-9C>A Single submitter congenital factor V deficiency
  • c.1119-9C>T Single submitter congenital factor V deficiency
  • c.1296+10A>C Single submitter congenital factor V deficiency
  • c.1296+12A>C Single submitter congenital factor V deficiency
  • c.1296+13A>G Single submitter congenital factor V deficiency
  • c.1297-20A>C Single submitter congenital factor V deficiency
  • c.1297-4G>T Single submitter congenital factor V deficiency
  • c.1396+15C>T Single submitter congenital factor V deficiency
  • c.1396+18C>G Single submitter congenital factor V deficiency
  • c.1396+18del Single submitter congenital factor V deficiency
  • c.1396+20A>G Single submitter congenital factor V deficiency
  • c.1396+7A>C Single submitter congenital factor V deficiency
  • c.1397-20T>C Single submitter congenital factor V deficiency
  • c.1397-4T>C Single submitter
  • c.1397-6T>C Single submitter congenital factor V deficiency
  • c.158+16A>C Single submitter congenital factor V deficiency
  • c.158+19C>T Single submitter congenital factor V deficiency
  • c.158+8A>C Single submitter factor V deficiency
  • c.159-15G>A Single submitter congenital factor V deficiency
  • c.159-8A>T Single submitter congenital factor V deficiency
  • c.1611+10C>T Single submitter congenital factor V deficiency
  • c.1611+13T>A Single submitter congenital factor V deficiency
  • c.1611+15A>G Single submitter congenital factor V deficiency
  • c.1611+17G>A Single submitter congenital factor V deficiency
  • c.1611+8G>A Single submitter congenital factor V deficiency
  • c.1612-10T>C Single submitter congenital factor V deficiency
  • c.1612-15T>C Single submitter congenital factor V deficiency
  • c.1763-10A>G Single submitter congenital factor V deficiency
  • c.1763-15A>T Single submitter congenital factor V deficiency
  • c.1763-16G>C Single submitter congenital factor V deficiency
  • c.1763-9C>T Single submitter congenital factor V deficiency
  • c.1975+10A>G Single submitter congenital factor V deficiency
  • c.1975+14T>C Single submitter congenital factor V deficiency
  • c.1975+19A>G Single submitter congenital factor V deficiency
  • c.1975+20C>T Single submitter congenital factor V deficiency
  • c.1976-15G>A Single submitter congenital factor V deficiency
  • c.250+10A>C Single submitter congenital factor V deficiency
  • c.250+13T>G Single submitter congenital factor V deficiency
  • c.250+18T>C Single submitter congenital factor V deficiency
  • c.251-17A>C Single submitter congenital factor V deficiency
  • c.373+16T>C Single submitter congenital factor V deficiency
  • c.373+9A>C Single submitter congenital factor V deficiency
  • c.373+9A>T Single submitter congenital factor V deficiency
  • c.374-17G>A Single submitter congenital factor V deficiency
  • c.374-19A>T Single submitter congenital factor V deficiency
  • c.374-6C>T Single submitter congenital factor V deficiency
  • c.4796+11T>G Single submitter congenital factor V deficiency
  • c.4796+15C>T Single submitter congenital factor V deficiency
  • c.4796+17C>T Single submitter congenital factor V deficiency
  • c.4797-12T>C Single submitter congenital factor V deficiency
  • c.4797-13A>G Single submitter congenital factor V deficiency
  • c.4797-17T>C Single submitter congenital factor V deficiency
  • c.4797-19A>T Single submitter congenital factor V deficiency
  • c.4797-8T>G Single submitter congenital factor V deficiency
  • c.4971+10T>C Single submitter congenital factor V deficiency
  • c.4971+17C>G Single submitter congenital factor V deficiency
  • c.4971+18del Single submitter congenital factor V deficiency
  • c.4972-15C>T Single submitter congenital factor V deficiency
  • c.4972-18G>A Single submitter congenital factor V deficiency
  • c.5208+10T>C Single submitter congenital factor V deficiency
  • c.5208+14T>C Single submitter congenital factor V deficiency
  • c.5208+16G>C Single submitter congenital factor V deficiency
  • c.5209-10G>C Single submitter congenital factor V deficiency
  • c.5209-13T>C Single submitter congenital factor V deficiency
  • c.5209-20A>T Single submitter congenital factor V deficiency
  • c.5419+19G>C Single submitter congenital factor V deficiency
  • c.5419+20A>T Single submitter
  • c.5419+7T>C Single submitter congenital factor V deficiency
  • c.5420-14C>G Single submitter congenital factor V deficiency
  • c.5599+15A>G Single submitter congenital factor V deficiency
  • c.5599+20A>C Single submitter
  • c.5599+8T>C Single submitter congenital factor V deficiency
  • c.5600-16_5600-14del Single submitter congenital factor V deficiency
  • c.5716+16T>C Single submitter congenital factor V deficiency
  • c.5716+20A>G Single submitter congenital factor V deficiency
  • c.5717-13_5717-12del Single submitter congenital factor V deficiency
  • c.5717-14T>C Single submitter congenital factor V deficiency
  • c.5717-20T>C Single submitter congenital factor V deficiency
  • c.5717-28T>A Single submitter
  • c.5717-4A>C Single submitter congenital factor V deficiency
  • c.5717-8T>C Single submitter
  • c.586+12C>T Single submitter congenital factor V deficiency
  • c.586+15A>C Single submitter congenital factor V deficiency
  • c.586+15del Single submitter congenital factor V deficiency
  • c.587-12T>C Single submitter congenital factor V deficiency
  • c.587-16_587-15del Single submitter congenital factor V deficiency
  • c.587-16G>A Single submitter congenital factor V deficiency
  • c.587-17T>C Single submitter congenital factor V deficiency
  • c.587-19C>T Single submitter congenital factor V deficiency
  • c.587-5C>G Single submitter congenital factor V deficiency
  • c.587-5C>T Single submitter congenital factor V deficiency
  • c.587-8T>C Single submitter congenital factor V deficiency
  • c.5892+11A>C Single submitter congenital factor V deficiency
  • c.5892+11A>G Single submitter congenital factor V deficiency
  • c.5893-10T>C Single submitter congenital factor V deficiency
  • c.5893-17G>A Single submitter congenital factor V deficiency
  • c.5893-4G>A Single submitter congenital factor V deficiency
  • c.5893-5T>G Single submitter congenital factor V deficiency
  • c.5893-7A>G Single submitter
  • c.6048+19A>G Single submitter congenital factor V deficiency
  • c.6049-14C>T Single submitter congenital factor V deficiency
  • c.6193+11A>G Single submitter congenital factor V deficiency
  • c.6193+15T>C Single submitter congenital factor V deficiency
  • c.6193+15T>G Single submitter congenital factor V deficiency
  • c.6193+19T>C Single submitter congenital factor V deficiency
  • c.6194-10C>T Single submitter congenital factor V deficiency
  • c.6194-19G>A Single submitter congenital factor V deficiency
  • c.6194-20C>T Single submitter congenital factor V deficiency
  • c.6345+11C>G Single submitter congenital factor V deficiency
  • c.6345+13C>G Single submitter congenital factor V deficiency
  • c.6345+13C>T Single submitter congenital factor V deficiency
  • c.6345+16T>C Single submitter congenital factor V deficiency
  • c.6345+16T>G Single submitter congenital factor V deficiency
  • c.6345+9T>C Single submitter congenital factor V deficiency
  • c.6346-4A>G Single submitter congenital factor V deficiency
  • c.6346-5C>T Single submitter congenital factor V deficiency
  • c.6346-9T>C Single submitter congenital factor V deficiency
  • c.6528+17G>T Single submitter congenital factor V deficiency
  • c.6528+9G>A Single submitter congenital factor V deficiency
  • c.6529-11T>C Single submitter congenital factor V deficiency
  • c.6529-12T>C Single submitter congenital factor V deficiency
  • c.730+10G>C Single submitter congenital factor V deficiency
  • c.730+15G>T Single submitter congenital factor V deficiency
  • c.730+333C>T Single submitter
  • c.730+8G>A Single submitter congenital factor V deficiency
  • c.731-10T>A Single submitter congenital factor V deficiency
  • c.731-11C>T Single submitter congenital factor V deficiency
  • c.731-13C>T Single submitter congenital factor V deficiency
  • c.731-15C>G Single submitter
  • c.731-15C>T Single submitter congenital factor V deficiency
  • c.731-9C>A Single submitter congenital factor V deficiency
  • c.731-9C>G Single submitter congenital factor V deficiency
  • c.731-9C>T Single submitter congenital factor V deficiency
  • c.952+10T>A Single submitter congenital factor V deficiency
  • c.952+12T>C Single submitter congenital factor V deficiency
  • c.952+16G>A Single submitter congenital factor V deficiency
  • c.952+16G>T Single submitter congenital factor V deficiency
  • c.952+18C>G Single submitter congenital factor V deficiency
  • c.952+18C>T Single submitter congenital factor V deficiency
  • c.953-10C>T Single submitter congenital factor V deficiency
  • c.953-13T>C Single submitter congenital factor V deficiency
  • c.953-20G>A Single submitter congenital factor V deficiency
  • c.953-20G>T Single submitter congenital factor V deficiency
  • c.*1488T>C Single submitter thrombophilia due to thrombin defect
  • c.*476C>T Single submitter thrombophilia due to thrombin defect
  • p.Ala1055= Single submitter congenital factor V deficiency
  • p.Ala1095= Single submitter congenital factor V deficiency
  • p.Ala1111Thr Single submitter Inborn genetic diseases
  • p.Ala1225Asp Single submitter factor V deficiency
  • p.Ala126= Single submitter congenital factor V deficiency
  • p.Ala135Val Single submitter congenital factor V deficiency
  • p.Ala1585= Single submitter congenital factor V deficiency
  • p.Ala1724= Single submitter Inborn genetic diseases
  • p.Ala1876= Single submitter congenital factor V deficiency
  • p.Ala1954= Single submitter congenital factor V deficiency
  • p.Ala2101= Single submitter congenital factor V deficiency
  • p.Ala249= Single submitter congenital factor V deficiency
  • p.Ala28= Single submitter congenital factor V deficiency
  • p.Ala29= Single submitter congenital factor V deficiency
  • p.Ala322= Single submitter congenital factor V deficiency
  • p.Ala369= Single submitter congenital factor V deficiency
  • p.Ala439= Single submitter congenital factor V deficiency
  • p.Ala989= Single submitter congenital factor V deficiency
  • p.Arg1161= Single submitter congenital factor V deficiency
  • p.Arg2039= Single submitter congenital factor V deficiency
  • p.Arg2168= Single submitter congenital factor V deficiency
  • p.Arg2202= Single submitter congenital factor V deficiency
  • p.Arg334= Single submitter congenital factor V deficiency
  • p.Arg46= Single submitter congenital factor V deficiency
  • p.Arg513Lys Single submitter congenital factor V deficiency
  • p.Arg647Cys Single submitter congenital factor V deficiency
  • p.Arg7= Single submitter congenital factor V deficiency
  • p.Arg707= Single submitter congenital factor V deficiency
  • p.Arg712= Single submitter congenital factor V deficiency
  • p.Arg737= Single submitter Inborn genetic diseases
  • p.Arg740= Single submitter congenital factor V deficiency
  • p.Arg848His Single submitter Inborn genetic diseases
  • p.Arg905= Single submitter congenital factor V deficiency
  • p.Arg946= Single submitter congenital factor V deficiency
  • p.Arg980= Single submitter Inborn genetic diseases
  • p.Asn1221= Single submitter congenital factor V deficiency
  • p.Asn1257= Single submitter congenital factor V deficiency
  • p.Asn1257Thr Single submitter Inborn genetic diseases
  • p.Asn1338= Single submitter congenital factor V deficiency
  • p.Asn1479= Single submitter congenital factor V deficiency
  • p.Asn1557= Single submitter congenital factor V deficiency
  • p.Asn1557Asp Single submitter Inborn genetic diseases
  • p.Asn1698= Single submitter congenital factor V deficiency
  • p.Asn1761= Single submitter congenital factor V deficiency
  • p.Asn2003= Single submitter congenital factor V deficiency
  • p.Asn2050= Single submitter congenital factor V deficiency
  • p.Asn2074= Single submitter congenital factor V deficiency
  • p.Asn2104= Single submitter congenital factor V deficiency
  • p.Asn2193= Single submitter congenital factor V deficiency
  • p.Asn235= Single submitter congenital factor V deficiency
  • p.Asn562= Single submitter congenital factor V deficiency
  • p.Asn590= Single submitter congenital factor V deficiency
  • p.Asn657= Single submitter congenital factor V deficiency
  • p.Asn728= Single submitter congenital factor V deficiency
  • p.Asn938= Single submitter congenital factor V deficiency
  • p.Asn969= Single submitter congenital factor V deficiency
  • p.Asp1143= Single submitter congenital factor V deficiency
  • p.Asp1243= Single submitter Inborn genetic diseases
  • p.Asp1387= Single submitter congenital factor V deficiency
  • p.Asp139= Single submitter congenital factor V deficiency
  • p.Asp1407= Single submitter congenital factor V deficiency
  • p.Asp1414= Single submitter congenital factor V deficiency
  • p.Asp1518= Single submitter congenital factor V deficiency
  • p.Asp1565= Single submitter congenital factor V deficiency
  • p.Asp1612= Single submitter congenital factor V deficiency
  • p.Asp164= Single submitter congenital factor V deficiency
  • p.Asp208= Single submitter congenital factor V deficiency
  • p.Asp508= Single submitter congenital factor V deficiency
  • p.Asp721= Single submitter Inborn genetic diseases
  • p.Asp897= Single submitter congenital factor V deficiency
  • p.Asp96= Single submitter congenital factor V deficiency
  • p.Cys1113= Single submitter Inborn genetic diseases
  • p.Gln1024= Single submitter congenital factor V deficiency
  • p.Gln1084= Single submitter congenital factor V deficiency
  • p.Gln1309= Single submitter Inborn genetic diseases
  • p.Gln1532= Single submitter congenital factor V deficiency
  • p.Gln1752= Single submitter congenital factor V deficiency
  • p.Gln1837= Single submitter congenital factor V deficiency
  • p.Gln1847= Single submitter congenital factor V deficiency
  • p.Gln204= Single submitter congenital factor V deficiency
  • p.Gln2059= Single submitter congenital factor V deficiency
  • p.Gln2139= Single submitter congenital factor V deficiency
  • p.Gln24= Single submitter congenital factor V deficiency
  • p.Gln343= Single submitter congenital factor V deficiency
  • p.Gln618= Single submitter congenital factor V deficiency
  • p.Glu1035= Single submitter congenital factor V deficiency

Uncertain significance 524

Showing the top 300 by review status; the full set is in the sitemap.