F8 — 1231 ClinVar variants
All ClinVar germline F8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 571 flagged for review →
353 Pathogenic · 42 Pathogenic/Likely pathogenic · 257 Likely pathogenic · 51 Conflicting · 35 Benign · 12 Benign/Likely benign · 90 Likely benign · 391 Uncertain significance
Full F8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 571
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 88
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
F8 p.Ala415Val
Pathogenic
Expert panel
hemophilia A
-
F8 p.Arg1768His
Pathogenic
Expert panel
hemophilia A
-
F8 p.Arg458Cys
Pathogenic
Expert panel
hemophilia A
-
F8 p.Arg550His
Pathogenic
Expert panel
hemophilia A
-
F8 p.Arg612Cys
Pathogenic
Expert panel
hemophilia A
-
F8 p.Asn1941Ser
Pathogenic
Expert panel
hemophilia A
-
F8 p.Gln2208Arg
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Gln2208Glu
Pathogenic
Expert panel
hemophilia A
-
F8 p.Glu200Gly
Pathogenic
Expert panel
hemophilia A
-
F8 p.Glu739Lys
Pathogenic
Expert panel
hemophilia A
-
F8 p.Gly1729Glu
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Leu327Val
Pathogenic
Expert panel
hemophilia A
-
F8 p.Ser308Leu
Pathogenic
Expert panel
hemophilia A
-
F8 p.Tyr365Cys
Pathogenic
Expert panel
hemophilia A
-
F8 p.Arg1708His
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg1768Cys
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg1960Gln
Pathogenic/Likely pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Arg1985Gln
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Arg2169His
Pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Arg2178His
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Arg2228Gln
Pathogenic
Multiple submitters
hemophilia B
-
F8 p.Arg2323Cys
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg2323His
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg2326Gln
Pathogenic/Likely pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Arg301His
Pathogenic
Multiple submitters
severe hemophilia A
-
F8 p.Arg458His
Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg48Lys
Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Arg602Gly
Pathogenic/Likely pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Arg717Gln
Pathogenic/Likely pathogenic
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Asn637Ser
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Glu1701Lys
Likely pathogenic
Multiple submitters
Factor VIII deficiency
-
F8 p.Gly2000Ala
Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.His1938Arg
Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.His1973Leu
Pathogenic/Likely pathogenic
Multiple submitters
Factor VIII deficiency
-
F8 p.Ile192Thr
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Ile567Thr
Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Met2183Val
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Pro2311His
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Pro2319Leu
Pathogenic
Multiple submitters
hemophilia B
-
F8 p.Pro2319Ser
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Thr541Ser
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Tyr1699Cys
Likely pathogenic
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Tyr1699Phe
Pathogenic
Multiple submitters
Inborn genetic diseases
-
F8 p.Tyr1699Ser
Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Tyr683Cys
Pathogenic
Multiple submitters
hemophilia A
-
F8 p.Val181Met
Pathogenic
Multiple submitters
F8-related disorder
-
F8 p.Ala1843Thr
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Arg1740Gly
Pathogenic
Single submitter
hemophilia A
-
F8 p.Arg1740Met
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Arg1936Cys
Pathogenic
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Arg2016Gln
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Asn2038Ser
Pathogenic
Single submitter
hemophilia A
-
F8 p.Asn2157Ser
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Asp1847Gly Pathogenic Single submitter
-
F8 p.Asp411Gly
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Gln1764Arg
Pathogenic
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Glu129Lys
Likely pathogenic
Single submitter
F8-related disorders
-
F8 p.Glu98Lys
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.His113Arg
Pathogenic
Single submitter
hemophilia A
-
F8 p.His228Pro
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.His634Arg
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ile1959Phe
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Leu1808Phe
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Leu644Val
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Lys126Arg
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Met1966Leu
Likely pathogenic
Single submitter
hemophilia B
-
F8 p.Met633Arg
Likely pathogenic
Single submitter
hemophilia B
-
F8 p.Met701Val
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Pro262Ala
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ser189Leu
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ser19Arg
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ser202Asn
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ser700Leu
Likely pathogenic
Single submitter
hemophilia B
-
F8 p.Thr1367Ser
Pathogenic
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Tyr175Cys
Likely pathogenic
Single submitter
Factor VIII deficiency
- F8 p.Val1981Met Likely pathogenic Single submitter
-
F8 p.Val285Met
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ala663Val
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Asn631Ser
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Asp1814Val
Likely pathogenic
No assertion criteria
Abnormal bleeding
-
F8 p.Gly164Val
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.His1980Tyr
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Leu431Phe
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Met110Val
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Met1791Thr
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Thr154Ala
Likely pathogenic
No assertion criteria
hemophilia A
-
F8 p.Thr1845Pro
Pathogenic
No assertion criteria
hemophilia A
-
F8 p.Val682Phe
Pathogenic
No assertion criteria
hemophilia A
Predictors agree, ClinVar conflicts 28
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
F8 p.Arg1279Lys
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Arg245Trp
Conflicting
Single submitter
hemophilia B
-
F8 p.Arg490Gly
Conflicting
Single submitter
hemophilia A
-
F8 p.Arg612His
Conflicting
Single submitter
hemophilia A
-
F8 p.Asn583Ser
Conflicting
Single submitter
hemophilia A
-
F8 p.Asp1055Asn
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.Asp1587Asn
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.Asp2317Glu
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Asp422His
Conflicting
Single submitter
hemophilia A
-
F8 p.Asp963Asn
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Gln1889Arg
Conflicting
Single submitter
hemophilia A
-
F8 p.Glu1787Lys
Conflicting
Single submitter
hemophilia A
-
F8 p.Glu987Asp
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.His1774Tyr
Conflicting
Single submitter
Factor VIII deficiency
-
F8 p.Ile1719Thr
Conflicting
Single submitter
Factor VIII deficiency
-
F8 p.Ile610Met
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.Phe1794Tyr
Conflicting
Single submitter
F8-related disorders
-
F8 p.Pro947Arg
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Ser899Asn
Conflicting
Single submitter
hemophilia A
- F8 p.Thr1088Ile Conflicting Single submitter
-
F8 p.Thr1327Met
Conflicting
Single submitter
hemophilia B
-
F8 p.Thr2173Ser
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.Tyr1717His
Conflicting
Single submitter
hemophilia A
-
F8 p.Tyr273Cys
Conflicting
Single submitter
hemophilia A
-
F8 p.Tyr365His
Conflicting
Single submitter
hemophilia B
-
F8 p.Tyr738Asp
Conflicting
Single submitter
hemophilia A
-
F8 p.Val1412Leu
Conflicting
Single submitter
Inborn genetic diseases
-
F8 p.Val345Ala
Conflicting
Single submitter
hemophilia B
Predictors lean, ClinVar uncertain 244
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 244
-
F8 c.6429+10901G>A
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ala111Val
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ala1383Gly
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ile405Phe
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Lys344Gln
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Met250Val
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ser2010Pro
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Arg1329His
Uncertain significance
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Arg1671His
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Arg446Gln
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Asp366Gly
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Asp411Asn
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Asp911Gly
Uncertain significance
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Gln1049Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Gln1209Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Gly525Arg
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.His767Tyr
Uncertain significance
Multiple submitters
hemophilia A
- F8 p.Ile1975Thr Uncertain significance Multiple submitters
-
F8 p.Leu13Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Leu1481Pro
Uncertain significance
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Pro309Leu
Uncertain significance
Multiple submitters
hemophilia B
-
F8 p.Ser152Arg
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Ser1968Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Ser2125Thr
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Thr1670Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- F8 p.Thr174Ile Uncertain significance Multiple submitters
-
F8 p.Thr2291Ala
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Thr2310Ile
Uncertain significance
Multiple submitters
hemophilia A
- F8 p.Thr770Ser Uncertain significance Multiple submitters
-
F8 p.Thr907Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- F8 p.Trp2089Gly Uncertain significance Multiple submitters
- F8 p.Val64Met Uncertain significance Multiple submitters
- F8 p.Ala1631Val Uncertain significance Single submitter
-
F8 p.Ala1993Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ala2096Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ala242Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ala315Gly
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Ala420Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ala460Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Ala654Thr Uncertain significance Single submitter
-
F8 p.Ala793Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Ala81Ser Uncertain significance Single submitter
-
F8 p.Arg1349Gly
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Arg1404Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Arg1664Gly Uncertain significance Single submitter
-
F8 p.Arg1667Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Arg546Gln Uncertain significance Single submitter
-
F8 p.Arg814Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Arg996Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Asn1025Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Asn1227Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Asn1883Lys
Uncertain significance
Single submitter
F8-related disorder
- F8 p.Asn1971His Uncertain significance Single submitter
-
F8 p.Asn2314Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Asn486Ile Uncertain significance Single submitter
-
F8 p.Asn962Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Asp169Asn
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Asp1727Asn
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Asp1861Gly
Uncertain significance
Single submitter
hemophilia A
- F8 p.Asp34Asn Uncertain significance Single submitter
- F8 p.Asp380Asn Uncertain significance Single submitter
- F8 p.Asp413Ala Uncertain significance Single submitter
- F8 p.Asp452His Uncertain significance Single submitter
-
F8 p.Asp46Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Asp624Val Uncertain significance Single submitter
-
F8 p.Asp740Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Asp75Glu
Uncertain significance
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Asp865Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Cys267Ser Uncertain significance Single submitter
-
F8 p.Gln1214Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Gln1225Arg
Uncertain significance
Single submitter
F8-related disorder
-
F8 p.Gln1305Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Gln1323His
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Gln1475Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Gln1675Arg
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gln1955Glu
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gln2041His
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gln2041Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Gln2055Pro Uncertain significance Single submitter
- F8 p.Gln2303Arg Uncertain significance Single submitter
-
F8 p.Gln935His
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Gln96Arg Uncertain significance Single submitter
-
F8 p.Gln975Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu1094Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu1347Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu1607Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu1634Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu1694Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Glu2003Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Glu2346Lys Uncertain significance Single submitter
- F8 p.Glu30Ala Uncertain significance Single submitter
-
F8 p.Glu30Gly
Uncertain significance
Single submitter
hemophilia A
- F8 p.Glu30Lys Uncertain significance Single submitter
-
F8 p.Glu576Val
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Glu968Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Gly1036Arg Uncertain significance Single submitter
-
F8 p.Gly121Asp
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gly1261Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Gly1456Glu Uncertain significance Single submitter
- F8 p.Gly1942Ser Uncertain significance Single submitter
-
F8 p.Gly1979Val
Uncertain significance
Single submitter
hemophilia A
- F8 p.Gly2076Arg Uncertain significance Single submitter
- F8 p.Gly2187Asp Uncertain significance Single submitter
- F8 p.Gly2261Glu Uncertain significance Single submitter
- F8 p.Gly2297Asp Uncertain significance Single submitter
- F8 p.Gly292Cys Uncertain significance Single submitter
- F8 p.Gly434Val Uncertain significance Single submitter
- F8 p.Gly439Asp Uncertain significance Single submitter
- F8 p.Gly705Asp Uncertain significance Single submitter
- F8 p.Gly864Glu Uncertain significance Single submitter
-
F8 p.Gly873Asp
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gly924Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Gly92Ser Uncertain significance Single submitter
- F8 p.His1066Tyr Uncertain significance Single submitter
-
F8 p.His1234Leu
Uncertain significance
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.His1434Asp
Uncertain significance
Single submitter
F8-related disorder
-
F8 p.His1867Arg
Uncertain significance
Single submitter
hemophilia A
- F8 p.His1980Pro Uncertain significance Single submitter
- F8 p.His2026Arg Uncertain significance Single submitter
-
F8 p.Ile1065Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ile1224Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ile1316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ile1641Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Ile1669Val
Uncertain significance
Single submitter
hemophilia A
- F8 p.Ile1681Thr Uncertain significance Single submitter
- F8 p.Ile1940Thr Uncertain significance Single submitter
- F8 p.Ile2100Thr Uncertain significance Single submitter
- F8 p.Ile2103Asn Uncertain significance Single submitter
- F8 p.Ile215Leu Uncertain significance Single submitter
-
F8 p.Ile2164Met
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Ile2336Asn Uncertain significance Single submitter
-
F8 p.Ile265Val
Uncertain significance
Single submitter
hemophilia A
- F8 p.Ile288Val Uncertain significance Single submitter
- F8 p.Ile658Leu Uncertain significance Single submitter
-
F8 p.Ile745Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Ile908Val Uncertain significance Single submitter
- F8 p.Leu107Phe Uncertain significance Single submitter
- F8 p.Leu1121Val Uncertain significance Single submitter
- F8 p.Leu1137Met Uncertain significance Single submitter
-
F8 p.Leu1163Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Leu1201Phe Uncertain significance Single submitter
-
F8 p.Leu1246Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Leu1248Phe
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Leu1267Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Leu1454Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Leu1469Ser Uncertain significance Single submitter
-
F8 p.Leu1566Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Leu178Pro Uncertain significance Single submitter
- F8 p.Leu1808Val Uncertain significance Single submitter
- F8 p.Leu196Pro Uncertain significance Single submitter
Predictors split 211
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 211
-
F8 p.Ala1939Pro
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ala415Thr
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Asn713Ile
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Glu1057Lys
Benign
Expert panel
hemophilia A
-
F8 p.Gly2102Asp
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Gly2102Ser
Likely benign
Expert panel
hemophilia A
-
F8 p.Gly474Glu
Pathogenic
Expert panel
hemophilia A
-
F8 p.Gly474Val
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Met633Ile
Pathogenic
Expert panel
hemophilia A
-
F8 p.Phe328Leu
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Pro83Arg
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ser308Trp
Likely pathogenic
Expert panel
hemophilia A
-
F8 p.Tyr2134His
Uncertain significance
Expert panel
hemophilia A
-
F8 p.Ala2108Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Ala723Thr
Pathogenic
Multiple submitters
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Arg1708Cys
Pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Arg2169Leu
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg2178Cys
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg2178Leu
Pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg391Cys
Pathogenic
Multiple submitters
hemophilia A
-
F8 p.Arg391His
Pathogenic
Multiple submitters
Factor VIII deficiency
-
F8 p.Arg546Trp
Pathogenic/Likely pathogenic
Multiple submitters
Factor VIII deficiency
-
F8 p.Arg550Cys
Pathogenic/Likely pathogenic
Multiple submitters
mild hemophilia A
-
F8 p.Arg717Trp
Pathogenic/Likely pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Asn2148Ser
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Asp186Gly
Likely pathogenic
Multiple submitters
hemophilia A
- F8 p.Glu162Lys Uncertain significance Multiple submitters
-
F8 p.Glu291Lys
Pathogenic
Multiple submitters
F8-related disorders
-
F8 p.Gly1729Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F8 p.Gly498Arg
Pathogenic
Multiple submitters
hemophilia B
-
F8 p.His2101Asp
Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Leu13Pro
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Lys575Thr
Uncertain significance
Multiple submitters
hemophilia A
-
F8 p.Phe312Ser
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia B
-
F8 p.Ser1445Pro
Likely benign
Multiple submitters
hemophilia A
- F8 p.Thr154Lys Uncertain significance Multiple submitters
-
F8 p.Thr314Ala
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Tyr1998Cys
Pathogenic/Likely pathogenic
Multiple submitters
hemophilia A
-
F8 p.Tyr2275His
Uncertain significance
Multiple submitters
hemophilia A
- F8 p.Tyr530Cys Pathogenic/Likely pathogenic Multiple submitters
- F8 p.Val120Ala Uncertain significance Multiple submitters
-
F8 p.Ala119Pro
Uncertain significance
Single submitter
F8-related disorder
-
F8 p.Ala167Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Ala1843Val Likely pathogenic Single submitter
-
F8 p.Ala1853Val
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Ala1939Glu Likely pathogenic Single submitter
- F8 p.Ala194Pro Uncertain significance Single submitter
- F8 p.Ala194Thr Uncertain significance Single submitter
- F8 p.Ala1993Pro Uncertain significance Single submitter
-
F8 p.Ala2108Pro
Uncertain significance
Single submitter
hemophilia A
- F8 p.Ala219Thr Uncertain significance Single submitter
-
F8 p.Ala2237Ser
Uncertain significance
Single submitter
hemophilia A
- F8 p.Ala2347Pro Uncertain significance Single submitter
-
F8 p.Ala303Glu
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Ala394Asp Uncertain significance Single submitter
- F8 p.Ala488Ser Uncertain significance Single submitter
- F8 p.Ala81Thr Uncertain significance Single submitter
-
F8 p.Arg1715Gln
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
- F8 p.Arg1768Ser Uncertain significance Single submitter
-
F8 p.Arg1985Pro
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Arg2109Cys
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Arg2109His Uncertain significance Single submitter
- F8 p.Arg2109Pro Likely pathogenic Single submitter
-
F8 p.Arg301Leu
Pathogenic
Single submitter
hemophilia A
-
F8 p.Arg550Gly
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Arg560Thr Uncertain significance Single submitter
-
F8 p.Arg590Ser
Pathogenic
Single submitter
inherited thrombophilia
-
F8 p.Arg612Leu
Conflicting
Single submitter
hemophilia A
-
F8 p.Arg717Leu
Conflicting
Single submitter
hemophilia A
- F8 p.Asn188His Uncertain significance Single submitter
- F8 p.Asn254Ser Uncertain significance Single submitter
-
F8 p.Asn703Asp
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Asp135Tyr
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Asp144Gly Uncertain significance Single submitter
- F8 p.Asp1788His Likely pathogenic Single submitter
-
F8 p.Asp1859Val
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Asp186Glu
Likely pathogenic
Single submitter
hemophilia B
-
F8 p.Asp2150Val
Uncertain significance
Single submitter
F8-related disorder
-
F8 p.Asp34Glu
Uncertain significance
Single submitter
hemophilia A
- F8 p.Asp34Val Conflicting Single submitter
- F8 p.Asp538Gly Uncertain significance Single submitter
-
F8 p.Asp579Gly
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Cys12Arg
Uncertain significance
Single submitter
F8-related disorder
-
F8 p.Gln664Pro
Pathogenic
Single submitter
hemophilia A
-
F8 p.Glu132Asp
Conflicting
Single submitter
Hemorrhage
-
F8 p.Glu1756Val
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Glu1770Lys
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Glu1848Lys
Likely pathogenic
Single submitter
F8-related disorders
- F8 p.Glu1863Lys Likely pathogenic Single submitter
-
F8 p.Glu2018Lys
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Glu2023Lys
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
-
F8 p.Glu2278Asp
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Glu340Asp
Pathogenic
Single submitter
hemophilia B
-
F8 p.Glu340Lys
Conflicting
Single submitter
factor VII deficiency
-
F8 p.Glu475Lys
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Gly1729Val Uncertain significance Single submitter
-
F8 p.Gly1769Glu
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Gly2000Val
Pathogenic
Single submitter
hemophilia A
-
F8 p.Gly201Arg
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Gly201Glu Uncertain significance Single submitter
- F8 p.Gly2128Glu Uncertain significance Single submitter
- F8 p.Gly2147Val Uncertain significance Single submitter
-
F8 p.Gly2198Glu
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Gly263Ser
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Gly266Glu
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Gly280Asp Uncertain significance Single submitter
- F8 p.Gly513Arg Uncertain significance Single submitter
- F8 p.His1976Tyr Uncertain significance Single submitter
- F8 p.His2101Arg Conflicting Single submitter
- F8 p.His2334Pro Uncertain significance Single submitter
-
F8 p.His330Arg
Conflicting
Single submitter
hemophilia A
- F8 p.His497Tyr Uncertain significance Single submitter
-
F8 p.Ile1698Thr
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ile2099Asn
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Ile2100Met Uncertain significance Single submitter
-
F8 p.Ile2121Asn
Uncertain significance
Single submitter
hemophilia A
-
F8 p.Ile331Thr
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ile390Thr
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Ile438Phe
Conflicting
Single submitter
thrombophilia, X-linked, due to factor 8 defect
- F8 p.Leu1771Pro Likely pathogenic Single submitter
-
F8 p.Leu566Phe
Pathogenic
Single submitter
hemophilia A
-
F8 p.Leu689Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F8 p.Lys2091Asn
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Lys2300Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- F8 p.Met1992Ile Conflicting Single submitter
- F8 p.Met2123Ile Uncertain significance Single submitter
-
F8 p.Met2274Thr
Conflicting
Single submitter
hemophilia A
- F8 p.Met339Leu Uncertain significance Single submitter
-
F8 p.Met681Ile
Likely pathogenic
Single submitter
hemophilia A
-
F8 p.Met701Ile
Conflicting
Single submitter
F8-related disorder
-
F8 p.Met721Ile
Pathogenic
Single submitter
hemophilia A
- F8 p.Met721Leu Likely pathogenic Single submitter
-
F8 p.Met721Thr
Pathogenic
Single submitter
hemophilia A
-
F8 p.Met88Val
Conflicting
Single submitter
hemophilia A
- F8 p.Phe1849Ile Uncertain significance Single submitter
-
F8 p.Phe2146Ser
Likely pathogenic
Single submitter
hemophilia B
- F8 p.Phe214Tyr Uncertain significance Single submitter
-
F8 p.Phe214Val
Likely pathogenic
Single submitter
hemophilia A
- F8 p.Phe447Leu Uncertain significance Single submitter
- F8 p.Phe698Val Uncertain significance Single submitter
- F8 p.Pro114Leu Uncertain significance Single submitter
-
F8 p.Pro170Leu
Uncertain significance
Single submitter
hemophilia A
- F8 p.Pro170Ser Conflicting Single submitter
- F8 p.Pro1765Thr Uncertain significance Single submitter
-
F8 p.Pro1844Ser
Likely pathogenic
Single submitter
hemophilia B
-
F8 p.Pro1873Leu
Pathogenic
Single submitter
hemophilia A
-
F8 p.Pro2318Ser
Uncertain significance
Single submitter
hemophilia A
- F8 p.Pro416Leu Conflicting Single submitter
-
F8 p.Pro524Leu
Likely pathogenic
Single submitter
thrombophilia, X-linked, due to factor 8 defect
- F8 p.Pro704Ser Uncertain significance Single submitter
All F8 variants
Pathogenic 353
Showing the top 300 by review status; the full set is in the sitemap.
- c.6429+2T>A Expert panel hemophilia A
- p.Ala2220Pro Expert panel hemophilia A
- p.Ala415Val Expert panel hemophilia A ⚠
- p.Arg1768His Expert panel hemophilia A ⚠
- p.Arg1800His Expert panel hemophilia A
- p.Arg2016Trp Expert panel hemophilia A
- p.Arg2326Ter Expert panel hemophilia A
- p.Arg355Ter Expert panel hemophilia A
- p.Arg458Cys Expert panel hemophilia A ⚠
- p.Arg550His Expert panel hemophilia A ⚠
- p.Arg602Ter Expert panel hemophilia A
- p.Arg612Cys Expert panel hemophilia A ⚠
- p.Asn1941Ser Expert panel hemophilia A ⚠
- p.Gln2208Glu Expert panel hemophilia A ⚠
- p.Glu1830Ter Expert panel hemophilia A
- p.Glu200Gly Expert panel hemophilia A ⚠
- p.Glu739Lys Expert panel hemophilia A ⚠
- p.Gly474Glu Expert panel hemophilia A ⚠
- p.Ile1213fs Expert panel hemophilia A
- p.Ile1374fs Expert panel hemophilia A
- p.Ile405Thr Expert panel hemophilia A
- p.Ile567fs Expert panel hemophilia A
- p.Leu327Val Expert panel hemophilia A ⚠
- p.Met633Ile Expert panel hemophilia A ⚠
- p.Ser229Ter Expert panel hemophilia A
- p.Ser308Leu Expert panel hemophilia A ⚠
- p.Ser554Gly Expert panel hemophilia A
- p.Thr696Ile Expert panel hemophilia A
- p.Trp2248Cys Expert panel hemophilia A
- p.Tyr365Cys Expert panel hemophilia A ⚠
- p.Tyr605Cys Expert panel hemophilia A
- p.Val2251Ala Expert panel hemophilia A
- c.2113+461_2113+473del Multiple submitters thrombophilia, X-linked, due to factor 8 defect
- c.670+1G>A Multiple submitters
- p.Ala1646fs Multiple submitters hemophilia A
- p.Ala723Thr Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg15Ter Multiple submitters hemophilia A
- p.Arg1708Cys Multiple submitters F8-related disorders ⚠
- p.Arg1715Ter Multiple submitters hemophilia A
- p.Arg1985Ter Multiple submitters hemophilia A
- p.Arg2135Ter Multiple submitters hemophilia A
- p.Arg2166Ter Multiple submitters hemophilia A
- p.Arg2169His Multiple submitters F8-related disorders ⚠
- p.Arg2178Leu Multiple submitters hemophilia A ⚠
- p.Arg2182Cys Multiple submitters thrombophilia, X-linked, due to factor 8 defect
- p.Arg2182His Multiple submitters hemophilia A
- p.Arg2228Gln Multiple submitters hemophilia B ⚠
- p.Arg2228Ter Multiple submitters hemophilia A
- p.Arg301His Multiple submitters severe hemophilia A ⚠
- p.Arg391Cys Multiple submitters hemophilia A ⚠
- p.Arg391His Multiple submitters Factor VIII deficiency ⚠
- p.Arg446Ter Multiple submitters thrombophilia, X-linked, due to factor 8 defect
- p.Arg814Ter Multiple submitters hemophilia A
- p.Asn982fs Multiple submitters hemophilia A
- p.Glu1101fs Multiple submitters hemophilia A
- p.Glu291Lys Multiple submitters F8-related disorders ⚠
- p.Gly439Val Multiple submitters hemophilia A
- p.Gly498Arg Multiple submitters hemophilia B ⚠
- p.Leu650fs Multiple submitters hemophilia A
- p.Leu69_Phe70insTer Multiple submitters hemophilia A
- p.Lys1031fs Multiple submitters hemophilia A
- p.Pro2319Leu Multiple submitters hemophilia B ⚠
- p.Ser507Ter Multiple submitters hemophilia A
- p.Thr1609fs Multiple submitters hemophilia A
- p.Thr252fs Multiple submitters hemophilia A
- p.Tyr1699Phe Multiple submitters Inborn genetic diseases ⚠
- p.Tyr492His Multiple submitters hemophilia A
- p.Tyr683Cys Multiple submitters hemophilia A ⚠
- p.Val181Met Multiple submitters F8-related disorder ⚠
- p.Val2035Ala Multiple submitters hemophilia B
- c.1271+1G>A Single submitter hemophilia A
- c.1443+2T>G Single submitter hemophilia A
- c.388+1G>A Single submitter hemophilia A
- c.5219+1G>A Single submitter hemophilia A
- c.5219+3A>G Single submitter hemophilia A
- c.5586+2T>G Single submitter
- c.5999-2A>C Single submitter hemophilia A
- c.602-1G>A Single submitter hemophilia A
- c.6115+2T>C Single submitter hemophilia A
- c.6429+2T>C Single submitter
- c.671-1G>A Single submitter hemophilia A
- p.Ala127fs Single submitter
- p.Ala420fs Single submitter hemophilia A
- p.Arg1349fs Single submitter F8-related disorders
- p.Arg1740Gly Single submitter hemophilia A ⚠
- p.Arg1800Cys Single submitter F8-related disorders
- p.Arg1800Gly Single submitter hemophilia A
- p.Arg1936Cys Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg1985fs Single submitter
- p.Arg2169Cys Single submitter hemophilia A
- p.Arg301Cys Single submitter hemophilia A
- p.Arg301Leu Single submitter hemophilia A ⚠
- p.Arg590Ser Single submitter inherited thrombophilia ⚠
- p.Asn2038Ser Single submitter hemophilia A ⚠
- p.Asn254Asp Single submitter hemophilia A
- p.Asp101Gly Single submitter hemophilia A
- p.Asp1847Gly Single submitter ⚠
- p.Asp519fs Single submitter
- p.Cys2019Ter Single submitter hemophilia A
- p.Gln1322fs Single submitter hemophilia A
- p.Gln1358Ter Single submitter hemophilia A
- p.Gln1546Ter Single submitter hemophilia A
- p.Gln1764Arg Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Gln1764Ter Single submitter hemophilia A
- p.Gln1817Ter Single submitter hemophilia A
- p.Gln2064Ter Single submitter hemophilia A
- p.Gln664Pro Single submitter hemophilia A ⚠
- p.Gln935Ter Single submitter
- p.Gln96Ter Single submitter hemophilia A
- p.Glu1292fs Single submitter Factor VIII deficiency
- p.Glu1624Ter Single submitter hemophilia A
- p.Glu291Ter Single submitter hemophilia A
- p.Glu340Asp Single submitter hemophilia B ⚠
- p.Glu968Ter Single submitter hemophilia A
- p.Gly1291fs Single submitter
- p.Gly1779Arg Single submitter hemophilia A
- p.Gly1869Ser Single submitter
- p.Gly2000Val Single submitter hemophilia A ⚠
- p.Gly2028_Met2029insTer Single submitter
- p.Gly2028Arg Single submitter hemophilia B
- p.Gly498Ter Single submitter hemophilia A
- p.Gly89Ser Single submitter
- p.His113Arg Single submitter hemophilia A ⚠
- p.His2156fs Single submitter hemophilia A
- p.Ile1972fs Single submitter hemophilia A
- p.Leu1230fs Single submitter hemophilia A
- p.Leu1249fs Single submitter hemophilia A
- p.Leu1389Ter Single submitter hemophilia A
- p.Leu1897fs Single submitter
- p.Leu1951Phe Single submitter hemophilia A
- p.Leu2181fs Single submitter hemophilia A
- p.Leu319fs Single submitter severe hemophilia A
- p.Leu480fs Single submitter
- p.Leu566Phe Single submitter hemophilia A ⚠
- p.Leu69fs Single submitter hemophilia A
- p.Leu69Pro Single submitter hemophilia A
- p.Leu90_Leu91insTer Single submitter
- p.Lys1348Ter Single submitter
- p.Lys1443fs Single submitter hemophilia A
- p.Lys146fs Single submitter hemophilia A
- p.Lys1516Ter Single submitter hemophilia A
- p.Lys1614fs Single submitter
- p.Lys1987fs Single submitter
- p.Lys444fs Single submitter
- p.Lys944fs Single submitter
- p.Met2007fs Single submitter hemophilia A
- p.Met339Val Single submitter hemophilia A
- p.Met721Ile Single submitter hemophilia A ⚠
- p.Met721Thr Single submitter hemophilia A ⚠
- p.Phe1287fs Single submitter hemophilia A
- p.Phe1794fs Single submitter hemophilia A
- p.Phe2145Cys Single submitter hemophilia B
- p.Phe2145Ser Single submitter hemophilia A
- p.Phe218fs Single submitter hemophilia A
- p.Phe455Cys Single submitter hemophilia B
- p.Phe667Ter Single submitter
- p.Phe78fs Single submitter hemophilia A
- p.Pro165fs Single submitter hemophilia A
- p.Pro1828fs Single submitter hemophilia A
- p.Pro1873Leu Single submitter hemophilia A ⚠
- p.Pro86fs Single submitter hemophilia A
- p.Pro926fs Single submitter hemophilia A
- p.Ser1046Ter Single submitter hemophilia A
- p.Ser1089Ter Single submitter hemophilia A
- p.Ser1114Ter Single submitter Factor VIII deficiency
- p.Ser1156fs Single submitter hemophilia A
- p.Ser1387fs Single submitter hemophilia A
- p.Ser138fs Single submitter hemophilia A
- p.Ser1413fs Single submitter hemophilia A
- p.Ser2213Phe Single submitter hemophilia A
- p.Ser428_Gln429delinsArgTer Single submitter
- p.Ser669Phe Single submitter
- p.Ser806fs Single submitter hemophilia A
- p.Ser836fs Single submitter hemophilia A
- p.Thr1303fs Single submitter
- p.Thr1367Ser Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Thr451fs Single submitter
- p.Thr533_Val534insTer Single submitter hemophilia A
- p.Trp1586Ter Single submitter hemophilia A
- p.Trp1854Ter Single submitter hemophilia A
- p.Trp2248Gly Single submitter
- p.Trp2332Ter Single submitter hemophilia A
- p.Trp33Ter Single submitter hemophilia A
- p.Trp401Ter Single submitter hemophilia A
- p.Trp604Ter Single submitter hemophilia A
- p.Trp707fs Single submitter hemophilia A
- p.Trp87Ter Single submitter hemophilia A
- p.Tyr1491Ter Single submitter
- p.Tyr1717fs Single submitter hemophilia A
- p.Tyr1767Ter Single submitter hemophilia A
- p.Tyr1834fs Single submitter hemophilia A
- p.Tyr1834Ter Single submitter hemophilia A
- p.Tyr2275Ter Single submitter
- p.Tyr450Ter Single submitter
- p.Tyr495Ter Single submitter hemophilia A
- p.Tyr738Ter Single submitter
- p.Val115Ala Single submitter
- p.Val1228fs Single submitter hemophilia A
- p.Val1952Glu Single submitter hemophilia A ⚠
- p.Val2035Met Single submitter
- p.Val445fs Single submitter
- p.Val727Phe Single submitter
- p.Val99Ala Single submitter hemophilia A
- c.143+1116_143+1742del No assertion criteria hemophilia A
- c.1538-1G>T No assertion criteria hemophilia A
- c.1903+5G>A No assertion criteria hemophilia A
- c.1904-736_2113+2563dup No assertion criteria hemophilia A
- c.3065_3066insL13054_3065dup No assertion criteria hemophilia A
- c.5220-2A>G No assertion criteria hemophilia A
- c.5374-224_5453delinsT No assertion criteria hemophilia A
- c.5587-2A>G No assertion criteria hemophilia A
- c.602-2A>G No assertion criteria hemophilia A
- c.6429+16424_6430-16424inv No assertion criteria hemophilia A
- c.6429+1G>A No assertion criteria F8-related disorder
- c.6430_6723del No assertion criteria hemophilia A
- c.6430-2A>G No assertion criteria F8-related disorder
- c.671-2A>G No assertion criteria hemophilia A
- c.6724-2A>G No assertion criteria F8-related disorder
- c.788-1G>C No assertion criteria hemophilia A
- p.? No assertion criteria hemophilia A
- p.Ala2211Pro No assertion criteria hemophilia A
- p.Ala303fs No assertion criteria hemophilia A
- p.Ala315fs No assertion criteria hemophilia A
- p.Ala663Val No assertion criteria hemophilia A ⚠
- p.Arg1960Leu No assertion criteria hemophilia A ⚠
- p.Arg1960Ter No assertion criteria hemophilia A
- p.Arg2135Pro No assertion criteria hemophilia A ⚠
- p.Arg2228Gly No assertion criteria hemophilia A
- p.Arg2228Leu No assertion criteria hemophilia A
- p.Arg2234fs No assertion criteria hemophilia A
- p.Arg2326Leu No assertion criteria hemophilia A
- p.Arg490_Pro491dup No assertion criteria hemophilia A
- p.Arg503fs No assertion criteria hemophilia A
- p.Arg795Ter No assertion criteria hemophilia A
- p.Asn1941Asp No assertion criteria hemophilia A
- p.Asn2305fs No assertion criteria hemophilia A
- p.Asn299Ile No assertion criteria hemophilia A
- p.Asn359fs No assertion criteria hemophilia A
- p.Asn432fs No assertion criteria hemophilia A
- p.Asn631Ser No assertion criteria hemophilia A ⚠
- p.Asn912fs No assertion criteria hemophilia A
- p.Asp135Gly No assertion criteria hemophilia A ⚠
- p.Asp1865Asn No assertion criteria hemophilia A
- p.Asp1865Tyr No assertion criteria hemophilia A
- p.Asp222Val No assertion criteria hemophilia A
- p.Asp2252His No assertion criteria
- p.Asp544Asn No assertion criteria hemophilia A
- p.Asp561Gly No assertion criteria hemophilia A
- p.Cys329Arg No assertion criteria hemophilia A
- p.Cys348Ser No assertion criteria hemophilia A
- p.Gln1705Ter No assertion criteria hemophilia A
- p.Gln1815Ter No assertion criteria hemophilia A
- p.Gln1893Ter No assertion criteria hemophilia A
- p.Gln2119Ter No assertion criteria hemophilia A
- p.Gln2265Arg No assertion criteria hemophilia A
- p.Gln2265fs No assertion criteria hemophilia A
- p.Gln2289Ter No assertion criteria hemophilia A
- p.Gln584fs No assertion criteria hemophilia A
- p.Gln584Lys No assertion criteria hemophilia A ⚠
- p.Glu1634Ter No assertion criteria hemophilia A
- p.Glu1904Lys No assertion criteria hemophilia A
- p.Glu1988fs No assertion criteria hemophilia A
- p.Glu2006Ter No assertion criteria hemophilia A
- p.Glu230fs No assertion criteria hemophilia A
- p.Glu284fs No assertion criteria hemophilia A
- p.Glu291Gly No assertion criteria hemophilia A ⚠
- p.Glu30Val No assertion criteria hemophilia A
- p.Glu360fs No assertion criteria hemophilia A
- p.Glu409Gly No assertion criteria hemophilia A
- p.Glu576Ter No assertion criteria hemophilia A
- p.Gly130Arg No assertion criteria hemophilia A
- p.Gly164Val No assertion criteria hemophilia A ⚠
- p.Gly1769Arg No assertion criteria hemophilia A ⚠
- p.Gly1779Glu No assertion criteria hemophilia A
- p.Gly1967Asp No assertion criteria hemophilia A
- p.Gly2107Ser No assertion criteria hemophilia A
- p.Gly224Trp No assertion criteria hemophilia A
- p.Gly278Arg No assertion criteria hemophilia A ⚠
- p.Gly89Asp No assertion criteria hemophilia A
- p.Gly92Val No assertion criteria hemophilia A
- p.His1434fs No assertion criteria hemophilia A
- p.His1980Tyr No assertion criteria hemophilia A ⚠
- p.Ile494Thr No assertion criteria hemophilia A
- p.Ile585Thr No assertion criteria hemophilia A ⚠
- p.Leu117Arg No assertion criteria hemophilia A
- p.Leu1775Phe No assertion criteria hemophilia A ⚠
- p.Leu1775Val No assertion criteria hemophilia A
- p.Leu1862= No assertion criteria hemophilia A
- p.Leu1875fs No assertion criteria hemophilia A
- p.Leu2185Ser No assertion criteria hemophilia A
- p.Leu26Arg No assertion criteria hemophilia A
- p.Leu431Phe No assertion criteria hemophilia A ⚠
- p.Lys1183fs No assertion criteria hemophilia A
- p.Lys1827Ter No assertion criteria hemophilia A
- p.Lys185Thr No assertion criteria hemophilia A
- p.Lys2155fs No assertion criteria hemophilia A
- p.Lys399fs No assertion criteria hemophilia A
- p.Lys67fs No assertion criteria hemophilia A
- p.Met110Val No assertion criteria hemophilia A ⚠
- p.Met1791Thr No assertion criteria hemophilia A ⚠
Pathogenic/Likely pathogenic 42
- c.5587-93C>T Multiple submitters hemophilia A
- p.Ala2227Thr Multiple submitters hemophilia A
- p.Arg1708His Multiple submitters hemophilia A ⚠
- p.Arg1768Cys Multiple submitters hemophilia A ⚠
- p.Arg1960Gln Multiple submitters F8-related disorders ⚠
- p.Arg1985Gln Multiple submitters hemophilia B ⚠
- p.Arg2169Leu Multiple submitters hemophilia A ⚠
- p.Arg2178Cys Multiple submitters hemophilia A ⚠
- p.Arg2178His Multiple submitters hemophilia B ⚠
- p.Arg2323Cys Multiple submitters hemophilia A ⚠
- p.Arg2323His Multiple submitters hemophilia A ⚠
- p.Arg2326Gln Multiple submitters F8-related disorders ⚠
- p.Arg546Trp Multiple submitters Factor VIII deficiency ⚠
- p.Arg550Cys Multiple submitters mild hemophilia A ⚠
- p.Arg602Gly Multiple submitters F8-related disorders ⚠
- p.Arg717Gln Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg717Trp Multiple submitters F8-related disorders ⚠
- p.Asn1460fs Multiple submitters hemophilia A
- p.Asn2148Ser Multiple submitters hemophilia A ⚠
- p.Asn637Ser Multiple submitters hemophilia A ⚠
- p.Asp2307Ala Multiple submitters hemophilia B
- p.His1207fs Multiple submitters F8-related disorders
- p.His1973Leu Multiple submitters Factor VIII deficiency ⚠
- p.Ile192Thr Multiple submitters hemophilia A ⚠
- p.Leu2229Phe Multiple submitters Abnormality of coagulation
- p.Leu2229Pro Multiple submitters hemophilia B
- p.Leu2320fs Multiple submitters hemophilia A
- p.Leu523= Multiple submitters hemophilia A
- p.Met2183Val Multiple submitters hemophilia B ⚠
- p.Phe312Ser Multiple submitters hemophilia B ⚠
- p.Pro165Ser Multiple submitters hemophilia A
- p.Pro2311His Multiple submitters hemophilia A ⚠
- p.Pro2319Ser Multiple submitters hemophilia A ⚠
- p.Ser112Phe Multiple submitters hemophilia A
- p.Ser2030Asn Multiple submitters thrombophilia, X-linked, due to factor 8 defect
- p.Thr314Ala Multiple submitters hemophilia A ⚠
- p.Thr541Ser Multiple submitters hemophilia A ⚠
- p.Tyr1802Cys Multiple submitters F8-related disorders
- p.Tyr1998Cys Multiple submitters hemophilia A ⚠
- p.Tyr2124Cys Multiple submitters hemophilia A
- p.Tyr530Cys Multiple submitters ⚠
- c.787+3A>G No assertion criteria F8-related disorder
Likely pathogenic 257
- p.Ala111Thr Expert panel hemophilia A
- p.Ala415Asp Expert panel hemophilia A
- p.Arg2339Trp Expert panel hemophilia A
- p.Asn1739= Expert panel hemophilia A
- p.Asn713Ile Expert panel hemophilia A ⚠
- p.Cys2345Arg Expert panel hemophilia A
- p.Gln2208Arg Expert panel hemophilia A ⚠
- p.Glu2341Lys Expert panel hemophilia A
- p.Gly1729Glu Expert panel hemophilia A ⚠
- p.Gly2102Asp Expert panel hemophilia A ⚠
- p.Gly474Arg Expert panel hemophilia A
- p.Gly474Trp Expert panel hemophilia A
- p.Ile405Ser Expert panel hemophilia A
- p.Leu2181His Expert panel hemophilia A
- p.Leu327Gln Expert panel hemophilia A
- p.Leu327Pro Expert panel hemophilia A
- p.Lys108Thr Expert panel hemophilia A
- p.Phe328Leu Expert panel hemophilia A ⚠
- p.Ser308Trp Expert panel hemophilia A ⚠
- p.Thr137Ala Expert panel hemophilia A
- p.Tyr256Asn Expert panel hemophilia A
- p.Arg458His Multiple submitters hemophilia A ⚠
- p.Arg48Lys Multiple submitters hemophilia B ⚠
- p.Asp186Gly Multiple submitters hemophilia A ⚠
- p.Asp2206Gly Multiple submitters hemophilia A
- p.Gln389= Multiple submitters hemophilia A
- p.Glu1701Lys Multiple submitters Factor VIII deficiency ⚠
- p.Gly2000Ala Multiple submitters hemophilia A ⚠
- p.His1938Arg Multiple submitters hemophilia A ⚠
- p.His1980Arg Multiple submitters
- p.His2101Asp Multiple submitters hemophilia A ⚠
- p.Ile567Thr Multiple submitters hemophilia B ⚠
- p.Phe73Leu Multiple submitters hemophilia A
- p.Thr294Arg Multiple submitters
- p.Tyr1699Cys Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Tyr1699Ser Multiple submitters hemophilia A ⚠
- p.Tyr2036Cys Multiple submitters hemophilia A
- p.Val502Phe Multiple submitters hemophilia A
- c.144-1_144del Single submitter Factor VIII deficiency
- c.144-5C>G Single submitter Factor VIII deficiency
- c.1443+5G>A Single submitter hemophilia A
- c.1444-3C>G Single submitter hemophilia A
- c.1538-18G>A Single submitter hemophilia A
- c.1752+5G>T Single submitter thrombophilia, X-linked, due to factor 8 defect
- c.1904-2A>G Single submitter hemophilia A
- c.2113+1152del Single submitter hemophilia A
- c.265+4A>G Single submitter thrombophilia, X-linked, due to factor 8 defect
- c.5219+2T>C Single submitter hemophilia B
- c.5586+2T>C Single submitter hemophilia A
- c.5803_5815+7del Single submitter
- c.5816-2A>G Single submitter hemophilia A
- c.5998+1G>T Single submitter hemophilia A
- c.601+5G>A Single submitter Factor VIII deficiency
- c.602-10T>G Single submitter
- c.602-11T>C Single submitter
- c.602-5T>C Single submitter hemophilia A
- c.6274-2A>G Single submitter hemophilia A
- c.6274-6_6279del Single submitter
- c.671-50_787+50del Single submitter hemophilia B
- c.6900+1G>C Single submitter hemophilia A
- c.787+1G>T Single submitter hemophilia A
- c.787+5G>C Single submitter hemophilia A
- c.*56G>T Single submitter
- p.Ala1819fs Single submitter hemophilia A
- p.Ala1843Thr Single submitter hemophilia A ⚠
- p.Ala1843Val Single submitter ⚠
- p.Ala1853Val Single submitter hemophilia A ⚠
- p.Ala1939Glu Single submitter ⚠
- p.Ala2227fs Single submitter hemophilia A
- p.Ala2237Thr Single submitter hemophilia A
- p.Ala2237Val Single submitter hemophilia A
- p.Ala28fs Single submitter hemophilia A
- p.Ala303Glu Single submitter hemophilia A ⚠
- p.Ala394fs Single submitter hemophilia A
- p.Ala488Pro Single submitter
- p.Arg1068fs Single submitter
- p.Arg1567fs Single submitter hemophilia A
- p.Arg1715Gly Single submitter hemophilia A
- p.Arg1740Met Single submitter hemophilia A ⚠
- p.Arg1985Gly Single submitter hemophilia A
- p.Arg1985Pro Single submitter hemophilia A ⚠
- p.Arg2016Gln Single submitter hemophilia A ⚠
- p.Arg2109Cys Single submitter hemophilia A ⚠
- p.Arg2109Pro Single submitter ⚠
- p.Arg2182Leu Single submitter hemophilia A
- p.Arg2323Gly Single submitter
- p.Arg2326fs Single submitter hemophilia A
- p.Arg2326Pro Single submitter hemophilia A
- p.Arg2339Met Single submitter severe hemophilia A
- p.Arg550Gly Single submitter hemophilia A ⚠
- p.Asn2157Ser Single submitter hemophilia A ⚠
- p.Asn358fs Single submitter hemophilia B
- p.Asn486Ser Single submitter Factor VIII deficiency
- p.Asn609His Single submitter hemophilia A
- p.Asn703Asp Single submitter hemophilia A ⚠
- p.Asp1260fs Single submitter hemophilia A
- p.Asp135Tyr Single submitter hemophilia A ⚠
- p.Asp1788His Single submitter ⚠
- p.Asp1865Val Single submitter
- p.Asp186Glu Single submitter hemophilia B ⚠
- p.Asp2093Gly Single submitter hemophilia A
- p.Asp2093Tyr Single submitter hemophilia A
- p.Asp2093Val Single submitter
- p.Asp222Ala Single submitter hemophilia A
- p.Asp411Gly Single submitter hemophilia A ⚠
- p.Asp579Gly Single submitter hemophilia A ⚠
- p.Cys198Gly Single submitter hemophilia A
- p.Cys2040Gly Single submitter hemophilia A
- p.Cys2040Tyr Single submitter hemophilia A
- p.Cys329Tyr Single submitter hemophilia A
- p.Cys547Arg Single submitter
- p.Cys573Arg Single submitter
- p.Cys573Phe Single submitter
- p.Gln1129Ter Single submitter hemophilia A
- p.Gln209Ter Single submitter hemophilia A
- p.Gln2208Pro Single submitter hemophilia A
- p.Gln2330Pro Single submitter
- p.Glu129Lys Single submitter F8-related disorders ⚠
- p.Glu1512Ter Single submitter hemophilia A
- p.Glu1723Lys Single submitter F8-related disorders
- p.Glu1770Lys Single submitter hemophilia A ⚠
- p.Glu1848Lys Single submitter F8-related disorders ⚠
- p.Glu1863Lys Single submitter ⚠
- p.Glu2018Lys Single submitter hemophilia A ⚠
- p.Glu2184Gln Single submitter hemophilia A
- p.Glu2184Gly Single submitter F8-related disorder
- p.Glu475Lys Single submitter hemophilia A ⚠
- p.Glu98Lys Single submitter hemophilia A ⚠
- p.Gly1769Glu Single submitter hemophilia A ⚠
- p.Gly190Asp Single submitter Factor VIII deficiency
- p.Gly193Glu Single submitter hemophilia A
- p.Gly201Arg Single submitter hemophilia A ⚠
- p.Gly201Trp Single submitter hemophilia A
- p.Gly2107Asp Single submitter
- p.Gly2198Arg Single submitter hemophilia B
- p.Gly2198Glu Single submitter hemophilia A ⚠
- p.Gly2233Trp Single submitter hemophilia A
- p.Gly2344Asp Single submitter Inborn genetic diseases
- p.Gly266Glu Single submitter hemophilia A ⚠
- p.Gly27Cys Single submitter Factor VIII deficiency
- p.Gly323Arg Single submitter hemophilia A
- p.Gly469Ter Single submitter hemophilia A
- p.Gly477Val Single submitter hemophilia A
- p.Gly705Arg Single submitter hemophilia A
- p.His1980fs Single submitter hemophilia A
- p.His2174Arg Single submitter
- p.His228Pro Single submitter hemophilia A ⚠
- p.His293Asp Single submitter
- p.His300fs Single submitter hemophilia A
- p.His634Arg Single submitter hemophilia A ⚠
- p.His651Pro Single submitter
- p.Ile1698Thr Single submitter hemophilia A ⚠
- p.Ile1959Phe Single submitter hemophilia A ⚠
- p.Ile2099Asn Single submitter hemophilia A ⚠
- p.Ile331Thr Single submitter hemophilia A ⚠
- p.Ile390Thr Single submitter hemophilia A ⚠
- p.Ile494Ser Single submitter hemophilia A
- p.Ile593Asn Single submitter
- p.Ile632fs Single submitter hemophilia B
- p.Ile636Thr Single submitter hemophilia A
- p.Ile905fs Single submitter hemophilia A
- p.Leu173Phe Single submitter F8-related disorder
- p.Leu1766Ter Single submitter hemophilia A
- p.Leu1771Pro Single submitter ⚠
- p.Leu1808Phe Single submitter hemophilia A ⚠
- p.Leu1948Arg Single submitter
- p.Leu1948Pro Single submitter
- p.Leu217Arg Single submitter hemophilia A
- p.Leu217Pro Single submitter hemophilia A
- p.Leu2320Ter Single submitter hemophilia A
- p.Leu644Val Single submitter hemophilia A ⚠
- p.Leu725Gln Single submitter F8-related disorders
- p.Lys1086fs Single submitter
- p.Lys126Arg Single submitter hemophilia A ⚠
- p.Lys2091= Single submitter hemophilia A
- p.Lys2091Asn Single submitter hemophilia A ⚠
- p.Lys249Ter Single submitter hemophilia A
- p.Lys443fs Single submitter
- p.Lys444Arg Single submitter hemophilia A
- p.Lys444Thr Single submitter
- p.Met1083fs Single submitter hemophilia B
- p.Met1966Leu Single submitter hemophilia B ⚠
- p.Met279Arg Single submitter hemophilia A
- p.Met374fs Single submitter hemophilia A
- p.Met633Arg Single submitter hemophilia B ⚠
- p.Met681Ile Single submitter hemophilia A ⚠
- p.Met701Val Single submitter hemophilia A ⚠
- p.Met721Leu Single submitter ⚠
- p.Phe1899Ser Single submitter
- p.Phe2146Ser Single submitter hemophilia B ⚠
- p.Phe214Val Single submitter hemophilia A ⚠
- p.Phe992fs Single submitter hemophilia A
- p.Pro1844Ser Single submitter hemophilia B ⚠
- p.Pro1999fs Single submitter hemophilia A
- p.Pro2162Leu Single submitter
- p.Pro2240Leu Single submitter hemophilia A
- p.Pro262Ala Single submitter hemophilia A ⚠
- p.Pro262fs Single submitter thrombophilia, X-linked, due to factor 8 defect
- p.Pro524Leu Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Ser128Pro Single submitter hemophilia A
- p.Ser1439fs Single submitter hemophilia B
- p.Ser1803fs Single submitter
- p.Ser1806Phe Single submitter ⚠
- p.Ser1858Phe Single submitter F8-related disorders
- p.Ser189Leu Single submitter hemophilia A ⚠
- p.Ser1907Arg Single submitter Factor VIII deficiency
- p.Ser19Arg Single submitter hemophilia A ⚠
- p.Ser202Arg Single submitter hemophilia A
- p.Ser202Asn Single submitter hemophilia A ⚠
- p.Ser2125Arg Single submitter hemophilia A
- p.Ser2152Pro Single submitter hemophilia A ⚠
- p.Ser2192Arg Single submitter F8-related disorder ⚠
- p.Ser392Leu Single submitter hemophilia A ⚠
- p.Ser603Asn Single submitter
- p.Ser700Leu Single submitter hemophilia B ⚠
- p.Ser700Pro Single submitter ⚠
- p.Ser906Ter Single submitter hemophilia A
- p.Thr154Pro Single submitter hemophilia B
- p.Thr174Ala Single submitter F8-related disorder ⚠
- p.Thr252Ile Single submitter hemophilia A
- p.Trp1048Ter Single submitter hemophilia A
- p.Trp1836Arg Single submitter hemophilia A
- p.Trp1961Arg Single submitter F8-related disorder
- p.Trp2015Arg Single submitter hemophilia A ⚠
- p.Tyr1440Ter Single submitter
- p.Tyr1717Cys Single submitter Factor VIII deficiency
- p.Tyr175Cys Single submitter Factor VIII deficiency ⚠
- p.Tyr25Cys Single submitter hemophilia A
- p.Tyr404Asp Single submitter
- p.Tyr450Asn Single submitter hemophilia A
- p.Tyr450Cys Single submitter
- p.Tyr492Cys Single submitter
- p.Tyr552Cys Single submitter hemophilia A
- p.Tyr552His Single submitter hemophilia B
- p.Tyr65fs Single submitter thrombophilia, X-linked, due to factor 8 defect
- p.Val159Asp Single submitter hemophilia A
- p.Val1752Leu Single submitter thrombophilia, X-linked, due to factor 8 defect
- p.Val1981Met Single submitter ⚠
- p.Val2092Glu Single submitter hemophilia A
- p.Val2259Asp Single submitter hemophilia B
- p.Val285Met Single submitter hemophilia A ⚠
- p.Val682Ala Single submitter hemophilia A ⚠
- p.Val697Ala Single submitter hemophilia A ⚠
- c.2114-6760_2257del No assertion criteria hemophilia A
- c.5999-1G>A No assertion criteria F8-related disorder
- c.6188-2A>G No assertion criteria F8-related disorder
- p.Arg2323Pro No assertion criteria hemophilia A
- p.Asp1814Val No assertion criteria Abnormal bleeding ⚠
- p.Glu1342Ter No assertion criteria hemophilia A
- p.Leu2271Pro No assertion criteria hemophilia A ⚠
- p.Leu876Ter No assertion criteria hemophilia A
- p.Thr154Ala No assertion criteria hemophilia A ⚠
- p.Trp1908fs No assertion criteria hemophilia A
- p.Tyr1590fs No assertion criteria hemophilia A
- p.Tyr414Asp No assertion criteria hemophilia A
- p.Tyr414Cys No assertion criteria F8-related disorder
- p.Val103Ala No assertion criteria hemophilia A
Conflicting classifications of pathogenicity 51
- c.5999-11G>A Single submitter thrombophilia, X-linked, due to factor 8 defect
- c.6429+5G>A Single submitter
- p.Arg1279Lys Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg1715Gln Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg245Trp Single submitter hemophilia B ⚠
- p.Arg490Gly Single submitter hemophilia A ⚠
- p.Arg612His Single submitter hemophilia A ⚠
- p.Arg612Leu Single submitter hemophilia A ⚠
- p.Arg717Leu Single submitter hemophilia A ⚠
- p.Asn583Ser Single submitter hemophilia A ⚠
- p.Asp1055Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1587Asn Single submitter Inborn genetic diseases ⚠
- p.Asp2317Glu Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Asp34Val Single submitter ⚠
- p.Asp422His Single submitter hemophilia A ⚠
- p.Asp963Asn Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Gln1889Arg Single submitter hemophilia A ⚠
- p.Gln2232= Single submitter Inborn genetic diseases
- p.Glu132Asp Single submitter Hemorrhage ⚠
- p.Glu1787Lys Single submitter hemophilia A ⚠
- p.Glu2023Lys Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Glu340Lys Single submitter factor VII deficiency ⚠
- p.Glu987Asp Single submitter Inborn genetic diseases ⚠
- p.His1774Tyr Single submitter Factor VIII deficiency ⚠
- p.His2101Arg Single submitter ⚠
- p.His330Arg Single submitter hemophilia A ⚠
- p.Ile1719Thr Single submitter Factor VIII deficiency ⚠
- p.Ile438Phe Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Ile610Met Single submitter Inborn genetic diseases ⚠
- p.Met1992Ile Single submitter ⚠
- p.Met2274Thr Single submitter hemophilia A ⚠
- p.Met701Ile Single submitter F8-related disorder ⚠
- p.Met88Val Single submitter hemophilia A ⚠
- p.Phe1794Tyr Single submitter F8-related disorders ⚠
- p.Pro170Ser Single submitter ⚠
- p.Pro416Leu Single submitter ⚠
- p.Pro947Arg Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Ser243Cys Single submitter hemophilia A ⚠
- p.Ser553Cys Single submitter hemophilia A ⚠
- p.Ser899Asn Single submitter hemophilia A ⚠
- p.Thr1088Ile Single submitter ⚠
- p.Thr1327Met Single submitter hemophilia B ⚠
- p.Thr2173Ser Single submitter Inborn genetic diseases ⚠
- p.Thr281Ile Single submitter ⚠
- p.Tyr1717His Single submitter hemophilia A ⚠
- p.Tyr273Cys Single submitter hemophilia A ⚠
- p.Tyr365His Single submitter hemophilia B ⚠
- p.Tyr738Asp Single submitter hemophilia A ⚠
- p.Val1412Leu Single submitter Inborn genetic diseases ⚠
- p.Val345Ala Single submitter hemophilia B ⚠
- p.Val534Ala Single submitter hemophilia A ⚠
Benign 35
- p.Ala362= Expert panel hemophilia A
- p.Arg503His Expert panel hemophilia A
- p.Arg795Gly Expert panel hemophilia A
- p.Glu1057Lys Expert panel hemophilia A ⚠
- p.Glu1094Lys Expert panel hemophilia A
- p.Ile1901= Expert panel hemophilia A
- p.Met2257Val Expert panel hemophilia A
- p.Ser1288= Expert panel hemophilia A
- p.Thr818Ile Expert panel hemophilia A
- p.Val2092= Expert panel hemophilia A
- p.Val2242Met Expert panel hemophilia A
- p.Val983Ile Expert panel hemophilia A
- c.1010-27G>A Multiple submitters hemophilia A
- c.2114-100A>G Multiple submitters
- c.266-19G>A Multiple submitters hemophilia A
- c.5374-19dup Multiple submitters
- c.5998+91T>A Multiple submitters
- c.601+17G>A Multiple submitters hemophilia A
- c.6115+103T>C Multiple submitters
- c.*1214G>A Multiple submitters hemophilia A
- c.*1672G>A Multiple submitters hemophilia A
- c.*29C>T Multiple submitters hemophilia A
- p.His1207= Multiple submitters
- p.Pro1500= Multiple submitters hemophilia A
- c.1443+18T>G Single submitter hemophilia A
- c.2113+471_2113+473dup Single submitter
- c.601+1893T>C Single submitter
- c.6274-304GT[13] Single submitter
- c.6274-304GT[14] Single submitter
- c.6429+9843A>G Single submitter
- c.670+31C>G Single submitter hemophilia A
- c.788-343C>G Single submitter
- c.*1001C>T Single submitter hemophilia A
- c.*1416G>T Single submitter hemophilia A
- p.Thr1831= Single submitter hemophilia A
Benign/Likely benign 12
- c.1444-22T>C Multiple submitters hemophilia A
- c.389-9C>T Multiple submitters hemophilia A
- c.5374-19del Multiple submitters
- p.Arg1079Lys Multiple submitters hemophilia A
- p.Asp1260Glu Multiple submitters hemophilia A
- p.Asp34= Multiple submitters hemophilia A
- p.His998Gln Multiple submitters hemophilia A
- p.Leu622= Multiple submitters hemophilia A
- p.Ser1810= Multiple submitters hemophilia A
- p.Ser2283= Multiple submitters hemophilia A
- p.Val1489= Multiple submitters hemophilia A
- p.Val1866= Multiple submitters
Likely benign 90
- c.5586+27A>C Expert panel hemophilia A
- c.6429+8606G>C Expert panel hemophilia A
- p.Ala1610Ser Expert panel hemophilia A
- p.Gly2102Ser Expert panel hemophilia A ⚠
- p.Gly41Cys Expert panel hemophilia A
- p.Pro1560Ser Expert panel hemophilia A
- p.Ser1688Leu Expert panel hemophilia A
- p.Thr2133= Expert panel hemophilia A
- c.144-13T>G Multiple submitters
- c.5999-270C>G Multiple submitters
- c.6429+9948G>A Multiple submitters
- p.Ala1311= Multiple submitters
- p.Arg1126Trp Multiple submitters hemophilia A
- p.Arg355Gln Multiple submitters hemophilia A
- p.Asn1295Lys Multiple submitters hemophilia A
- p.Leu850= Multiple submitters
- p.Pro2319= Multiple submitters hemophilia A
- p.Pro421= Multiple submitters
- p.Ser1445Pro Multiple submitters hemophilia A ⚠
- p.Ser1868= Multiple submitters hemophilia A
- p.Tyr738= Multiple submitters
- c.1010-842G>A Single submitter
- c.143+1576A>G Single submitter
- c.144-10750C>T Single submitter
- c.144-10757G>A Single submitter
- c.2113+1144T>A Single submitter
- c.389-24C>T Single submitter
- c.5219+12T>C Single submitter
- c.5219+13_5219+20del Single submitter
- c.5220-12T>C Single submitter
- c.5220-16del Single submitter
- c.5587-81G>A Single submitter
- c.6115+27C>T Single submitter hemophilia A
- c.6429+13908C>T Single submitter
- c.6429+13963C>T Single submitter
- c.6429+9928C>T Single submitter
- c.6429+9940G>A Single submitter
- c.6429+9951G>A Single submitter
- c.6430-8C>T Single submitter
- c.787+20A>G Single submitter
- c.-156C>T Single submitter
- c.*1379A>G Single submitter hemophilia A
- c.*30G>A Single submitter hemophilia A
- c.*992A>G Single submitter hemophilia A
- p.Ala1557= Single submitter
- p.Arg1332= Single submitter
- p.Arg1425Lys Single submitter Inborn genetic diseases
- p.Arg301= Single submitter Inborn genetic diseases
- p.Arg602Gln Single submitter Inborn genetic diseases
- p.Asn616= Single submitter
- p.Asp1503Gly Single submitter Inborn genetic diseases
- p.Asp2127= Single submitter
- p.Asp422Asn Single submitter Inborn genetic diseases
- p.Asp845Glu Single submitter hemophilia A
- p.Gln1839= Single submitter
- p.Glu2341= Single submitter
- p.Glu739= Single submitter hemophilia A
- p.Glu987= Single submitter
- p.Gly1133= Single submitter hemophilia A
- p.Gly924= Single submitter
- p.His463Tyr Single submitter
- p.His76= Single submitter
- p.Ile1418= Single submitter
- p.Ile215Val Single submitter Inborn genetic diseases
- p.Leu1198= Single submitter
- p.Leu1737= Single submitter
- p.Leu517= Single submitter
- p.Phe1010Cys Single submitter
- p.Phe148= Single submitter
- p.Phe895Leu Single submitter Inborn genetic diseases
- p.Pro1560Arg Single submitter hemophilia A
- p.Pro1660Ser Single submitter
- p.Pro1734Ser Single submitter
- p.Pro2161= Single submitter
- p.Pro2240= Single submitter
- p.Pro909= Single submitter
- p.Ser1601= Single submitter
- p.Ser1709= Single submitter
- p.Thr1022Ala Single submitter Inborn genetic diseases
- p.Thr1327= Single submitter hemophilia A
- p.Thr1394= Single submitter
- p.Thr2221= Single submitter
- p.Thr949Ile Single submitter Inborn genetic diseases
- p.Tyr1998Phe Single submitter hemophilia A
- p.Val104= Single submitter
- p.Val1540Met Single submitter Inborn genetic diseases
- c.2113+472_2113+473del No assertion criteria F8-related disorder
- p.Lys1638Glu No assertion criteria F8-related disorder
- p.Ser1114= No assertion criteria F8-related disorder
- p.Tyr1767= No assertion criteria F8-related disorder
Uncertain significance 391
Showing the top 300 by review status; the full set is in the sitemap.
- c.1272-5T>C Expert panel hemophilia A
- c.144-26A>C Expert panel hemophilia A
- c.6429+10901G>A Expert panel hemophilia A ⚠
- p.Ala111Val Expert panel hemophilia A ⚠
- p.Ala1383Gly Expert panel hemophilia A ⚠
- p.Ala1939Pro Expert panel hemophilia A ⚠
- p.Ala415Thr Expert panel hemophilia A ⚠
- p.Gly474Val Expert panel hemophilia A ⚠
- p.Ile405Phe Expert panel hemophilia A ⚠
- p.Lys344Gln Expert panel hemophilia A ⚠
- p.Met250Val Expert panel hemophilia A ⚠
- p.Pro83Arg Expert panel hemophilia A ⚠
- p.Ser2010Pro Expert panel hemophilia A ⚠
- p.Thr74= Expert panel hemophilia A
- p.Tyr2134His Expert panel hemophilia A ⚠
- c.1443+6T>G Multiple submitters
- p.Ala2108Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1329His Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Arg1671His Multiple submitters hemophilia A ⚠
- p.Arg446Gln Multiple submitters hemophilia A ⚠
- p.Asp366Gly Multiple submitters hemophilia A ⚠
- p.Asp411Asn Multiple submitters hemophilia A ⚠
- p.Asp911Gly Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Gln1049Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln1209Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu162Lys Multiple submitters ⚠
- p.Gly1729Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly2022= Multiple submitters
- p.Gly525Arg Multiple submitters hemophilia A ⚠
- p.His767Tyr Multiple submitters hemophilia A ⚠
- p.Ile1975Thr Multiple submitters ⚠
- p.Leu13Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu13Pro Multiple submitters hemophilia A ⚠
- p.Leu1481Pro Multiple submitters thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Lys575Thr Multiple submitters hemophilia A ⚠
- p.Pro309Leu Multiple submitters hemophilia B ⚠
- p.Ser152Arg Multiple submitters hemophilia A ⚠
- p.Ser1968Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser2125Thr Multiple submitters hemophilia A ⚠
- p.Thr154Lys Multiple submitters ⚠
- p.Thr1670Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr174Ile Multiple submitters ⚠
- p.Thr2291Ala Multiple submitters hemophilia A ⚠
- p.Thr2310Ile Multiple submitters hemophilia A ⚠
- p.Thr770Ser Multiple submitters ⚠
- p.Thr907Ile Multiple submitters Inborn genetic diseases ⚠
- p.Trp2089Gly Multiple submitters ⚠
- p.Tyr2175del Multiple submitters hemophilia A
- p.Tyr2275His Multiple submitters hemophilia A ⚠
- p.Val120Ala Multiple submitters ⚠
- p.Val64Met Multiple submitters ⚠
- c.1010-9T>A Single submitter hemophilia A
- c.144-14_144-10del Single submitter F8-related disorder
- c.2114-6139C>T Single submitter
- c.5587-98G>A Single submitter Abnormality of coagulation
- c.5816-34A>T Single submitter
- c.5999-763G>A Single submitter hemophilia A
- c.601+1632G>A Single submitter F8-related disorder
- c.6116-9T>G Single submitter
- c.6429+14002A>G Single submitter
- c.6574+5G>A Single submitter hemophilia A
- c.670+5G>A Single submitter hemophilia A
- c.671-40_671-30del Single submitter
- c.671-9T>C Single submitter
- c.6900+17_6900+20del Single submitter
- c.6901-725T>C Single submitter Abnormality of coagulation
- c.787+1967C>T Single submitter
- c.787+3A>T Single submitter
- c.788-14T>G Single submitter Abnormality of coagulation
- c.-157A>G Single submitter hemophilia A
- c.-860A>G Single submitter
- c.*1017C>A Single submitter hemophilia A
- c.*1166A>G Single submitter hemophilia A
- c.*1175G>C Single submitter hemophilia A
- c.*1362A>T Single submitter hemophilia A
- c.*1731T>C Single submitter hemophilia A
- c.*176G>A Single submitter hemophilia A
- c.*288C>A Single submitter hemophilia A
- c.*426G>A Single submitter hemophilia A
- c.*460G>A Single submitter hemophilia A
- c.*78C>T Single submitter hemophilia A
- c.*862A>G Single submitter hemophilia A
- c.*908T>G Single submitter hemophilia A
- c.*915G>A Single submitter hemophilia A
- c.*975A>G Single submitter hemophilia A
- p.Ala119Pro Single submitter F8-related disorder ⚠
- p.Ala1631Val Single submitter ⚠
- p.Ala167Val Single submitter Inborn genetic diseases ⚠
- p.Ala194Pro Single submitter ⚠
- p.Ala194Thr Single submitter ⚠
- p.Ala1993Pro Single submitter ⚠
- p.Ala1993Ser Single submitter Inborn genetic diseases ⚠
- p.Ala2070_Leu2072delinsPheAsp Single submitter
- p.Ala2096Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2108Pro Single submitter hemophilia A ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala2237Ser Single submitter hemophilia A ⚠
- p.Ala2347Pro Single submitter ⚠
- p.Ala242Gly Single submitter Inborn genetic diseases ⚠
- p.Ala315Gly Single submitter hemophilia A ⚠
- p.Ala394Asp Single submitter ⚠
- p.Ala420Asp Single submitter Inborn genetic diseases ⚠
- p.Ala460Val Single submitter Inborn genetic diseases ⚠
- p.Ala488Ser Single submitter ⚠
- p.Ala654Thr Single submitter ⚠
- p.Ala793Ser Single submitter Inborn genetic diseases ⚠
- p.Ala81Ser Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg1349Gly Single submitter hemophilia A ⚠
- p.Arg1404Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1664Gly Single submitter ⚠
- p.Arg1667Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1715= Single submitter
- p.Arg1768Ser Single submitter ⚠
- p.Arg2109His Single submitter ⚠
- p.Arg391= Single submitter hemophilia A
- p.Arg546Gln Single submitter ⚠
- p.Arg560Thr Single submitter ⚠
- p.Arg814Gln Single submitter Inborn genetic diseases ⚠
- p.Arg996Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1025Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn1227Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1883Lys Single submitter F8-related disorder ⚠
- p.Asn188His Single submitter ⚠
- p.Asn1971His Single submitter ⚠
- p.Asn2314Ile Single submitter Inborn genetic diseases ⚠
- p.Asn254Ser Single submitter ⚠
- p.Asn486Ile Single submitter ⚠
- p.Asn962Ser Single submitter Inborn genetic diseases ⚠
- p.Asp144Gly Single submitter ⚠
- p.Asp169Asn Single submitter hemophilia A ⚠
- p.Asp1727Asn Single submitter hemophilia A ⚠
- p.Asp1859Val Single submitter hemophilia A ⚠
- p.Asp1861Gly Single submitter hemophilia A ⚠
- p.Asp2150Val Single submitter F8-related disorder ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp34Glu Single submitter hemophilia A ⚠
- p.Asp380Asn Single submitter ⚠
- p.Asp413Ala Single submitter ⚠
- p.Asp452His Single submitter ⚠
- p.Asp46Asn Single submitter Inborn genetic diseases ⚠
- p.Asp538Gly Single submitter ⚠
- p.Asp624Val Single submitter ⚠
- p.Asp740Glu Single submitter Inborn genetic diseases ⚠
- p.Asp75Glu Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.Asp865Val Single submitter Inborn genetic diseases ⚠
- p.Cys12Arg Single submitter F8-related disorder ⚠
- p.Cys267Ser Single submitter ⚠
- p.Gln1214Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1225Arg Single submitter F8-related disorder ⚠
- p.Gln1305Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1323His Single submitter Inborn genetic diseases ⚠
- p.Gln1475Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1675Arg Single submitter hemophilia A ⚠
- p.Gln1955Glu Single submitter hemophilia A ⚠
- p.Gln2041His Single submitter hemophilia A ⚠
- p.Gln2041Leu Single submitter Inborn genetic diseases ⚠
- p.Gln2055Pro Single submitter ⚠
- p.Gln2303Arg Single submitter ⚠
- p.Gln935His Single submitter Inborn genetic diseases ⚠
- p.Gln96Arg Single submitter ⚠
- p.Gln975Glu Single submitter Inborn genetic diseases ⚠
- p.Glu1094Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1347Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1607Val Single submitter Inborn genetic diseases ⚠
- p.Glu1634Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1694Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1756Val Single submitter hemophilia A ⚠
- p.Glu2003Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2278Asp Single submitter hemophilia A ⚠
- p.Glu2346Lys Single submitter ⚠
- p.Glu30Ala Single submitter ⚠
- p.Glu30Gly Single submitter hemophilia A ⚠
- p.Glu30Lys Single submitter ⚠
- p.Glu576Val Single submitter hemophilia A ⚠
- p.Glu968Gln Single submitter Inborn genetic diseases ⚠
- p.Gly1036Arg Single submitter ⚠
- p.Gly121Asp Single submitter hemophilia A ⚠
- p.Gly1261Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1456Glu Single submitter ⚠
- p.Gly1729Val Single submitter ⚠
- p.Gly1942Ser Single submitter ⚠
- p.Gly1979Val Single submitter hemophilia A ⚠
- p.Gly201Glu Single submitter ⚠
- p.Gly2076Arg Single submitter ⚠
- p.Gly2128Glu Single submitter ⚠
- p.Gly2147Val Single submitter ⚠
- p.Gly2187Asp Single submitter ⚠
- p.Gly2261Glu Single submitter ⚠
- p.Gly2297Asp Single submitter ⚠
- p.Gly263Ser Single submitter hemophilia A ⚠
- p.Gly280Asp Single submitter ⚠
- p.Gly292Cys Single submitter ⚠
- p.Gly434Val Single submitter ⚠
- p.Gly439Asp Single submitter ⚠
- p.Gly513Arg Single submitter ⚠
- p.Gly705Asp Single submitter ⚠
- p.Gly864Glu Single submitter ⚠
- p.Gly873Asp Single submitter hemophilia A ⚠
- p.Gly924Ala Single submitter Inborn genetic diseases ⚠
- p.Gly92Ser Single submitter ⚠
- p.His1066Tyr Single submitter ⚠
- p.His1234Leu Single submitter thrombophilia, X-linked, due to factor 8 defect ⚠
- p.His1434Asp Single submitter F8-related disorder ⚠
- p.His1867Arg Single submitter hemophilia A ⚠
- p.His1976Tyr Single submitter ⚠
- p.His1980Pro Single submitter ⚠
- p.His2026Arg Single submitter ⚠
- p.His2334Pro Single submitter ⚠
- p.His497Tyr Single submitter ⚠
- p.Ile1065Phe Single submitter Inborn genetic diseases ⚠
- p.Ile1224Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1316Val Single submitter Inborn genetic diseases ⚠
- p.Ile1641Val Single submitter Inborn genetic diseases ⚠
- p.Ile1669Val Single submitter hemophilia A ⚠
- p.Ile1681Thr Single submitter ⚠
- p.Ile1940Thr Single submitter ⚠
- p.Ile2100Met Single submitter ⚠
- p.Ile2100Thr Single submitter ⚠
- p.Ile2103Asn Single submitter ⚠
- p.Ile2121Asn Single submitter hemophilia A ⚠
- p.Ile2121Thr Single submitter
- p.Ile215Leu Single submitter ⚠
- p.Ile2164Met Single submitter Inborn genetic diseases ⚠
- p.Ile2177Asn Single submitter
- p.Ile2336Asn Single submitter ⚠
- p.Ile265Val Single submitter hemophilia A ⚠
- p.Ile288Val Single submitter ⚠
- p.Ile658Leu Single submitter ⚠
- p.Ile745Thr Single submitter Inborn genetic diseases ⚠
- p.Ile908Val Single submitter ⚠
- p.Leu107Phe Single submitter ⚠
- p.Leu1121Val Single submitter ⚠
- p.Leu1137Met Single submitter ⚠
- p.Leu1163Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1201Phe Single submitter ⚠
- p.Leu1246Ile Single submitter Inborn genetic diseases ⚠
- p.Leu1248Phe Single submitter hemophilia A ⚠
- p.Leu1267Ile Single submitter Inborn genetic diseases ⚠
- p.Leu1454Ser Single submitter Inborn genetic diseases ⚠
- p.Leu1469Ser Single submitter ⚠
- p.Leu1566Pro Single submitter Inborn genetic diseases ⚠
- p.Leu178Pro Single submitter ⚠
- p.Leu1808Val Single submitter ⚠
- p.Leu1951= Single submitter
- p.Leu196Pro Single submitter ⚠
- p.Leu290Arg Single submitter ⚠
- p.Leu290Phe Single submitter ⚠
- p.Leu296Pro Single submitter ⚠
- p.Leu305Ser Single submitter ⚠
- p.Leu326= Single submitter hemophilia A
- p.Leu480Pro Single submitter hemophilia A ⚠
- p.Leu571Arg Single submitter hemophilia A ⚠
- p.Leu594Pro Single submitter ⚠
- p.Leu5Phe Single submitter Inborn genetic diseases ⚠
- p.Leu689Val Single submitter Inborn genetic diseases ⚠
- p.Leu827Phe Single submitter Inborn genetic diseases ⚠
- p.Lys1134Asn Single submitter ⚠
- p.Lys1178Asn Single submitter hemophilia A ⚠
- p.Lys1244Arg Single submitter F8-related disorder ⚠
- p.Lys1458Asn Single submitter Inborn genetic diseases ⚠
- p.Lys1553Arg Single submitter ⚠
- p.Lys1712Asn Single submitter Inborn genetic diseases
- p.Lys2300Arg Single submitter Inborn genetic diseases ⚠
- p.Lys427Arg Single submitter Inborn genetic diseases ⚠
- p.Lys427Glu Single submitter ⚠
- p.Lys441Arg Single submitter Inborn genetic diseases ⚠
- p.Lys529= Single submitter hemophilia A
- p.Lys589Glu Single submitter Inborn genetic diseases ⚠
- p.Lys82Asn Single submitter ⚠
- p.Lys82Glu Single submitter ⚠
- p.Met1071Ile Single submitter hemophilia A ⚠
- p.Met1118Val Single submitter Inborn genetic diseases ⚠
- p.Met1471Val Single submitter hemophilia A ⚠
- p.Met1730Ile Single submitter ⚠
- p.Met1Lys Single submitter hemophilia A
- p.Met2123Ile Single submitter ⚠
- p.Met2218Lys Single submitter ⚠
- p.Met2218Val Single submitter ⚠
- p.Met2340Arg Single submitter ⚠
- p.Met339Leu Single submitter ⚠
- p.Met36Thr Single submitter Inborn genetic diseases ⚠
- p.Met448Val Single submitter Inborn genetic diseases ⚠
- p.Phe10Leu Single submitter
- p.Phe1337Ser Single submitter Inborn genetic diseases ⚠
- p.Phe1757Leu Single submitter ⚠
- p.Phe1849Ile Single submitter ⚠
- p.Phe214Cys Single submitter hemophilia A ⚠
- p.Phe214Tyr Single submitter ⚠
- p.Phe221Ser Single submitter ⚠
- p.Phe447Leu Single submitter ⚠
- p.Phe672del Single submitter hemophilia A
- p.Phe698Val Single submitter ⚠
- p.Phe9Cys Single submitter F8-related disorder ⚠
- p.Pro114Leu Single submitter ⚠
- p.Pro1388Leu Single submitter ⚠
- p.Pro1388Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1400Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1416Leu Single submitter ⚠
- p.Pro149_Gly150insValPhePro Single submitter hemophilia A