F9 — 648 ClinVar variants

All ClinVar germline F9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

179 Pathogenic · 16 Pathogenic/Likely pathogenic · 103 Likely pathogenic · 13 Conflicting · 35 Benign · 6 Benign/Likely benign · 172 Likely benign · 124 Uncertain significance

Full F9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 56

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

F9 p.Ala279Thr Pathogenic Expert panel
hemophilia B
F9 p.Ala337Pro Likely pathogenic Expert panel
hemophilia B
F9 p.Ala337Thr Pathogenic Expert panel
hemophilia B
F9 p.Ala337Val Pathogenic Expert panel
hemophilia B
F9 p.Arg191His Pathogenic Expert panel
hemophilia B
F9 p.Arg294Gln Pathogenic Expert panel
hemophilia B
F9 p.Arg75Gln Pathogenic Expert panel
hemophilia B
F9 p.Gly106Ser Pathogenic Expert panel
hemophilia B
F9 p.Ile136Thr Likely pathogenic Expert panel
hemophilia B
F9 p.Thr29Ile Likely pathogenic Expert panel
hemophilia B
F9 p.Thr342Met Pathogenic Expert panel
hemophilia B
F9 p.Val174Met Likely pathogenic Expert panel
hemophilia B
F9 p.Val30Ile Likely pathogenic Expert panel
hemophilia B
F9 p.Val30Leu Likely pathogenic Expert panel
hemophilia B
F9 p.Arg226Gln Pathogenic Multiple submitters
hemophilia B
F9 p.Arg379Gln Pathogenic Multiple submitters
hemophilia B
F9 p.Arg43Gln Pathogenic Multiple submitters
hemophilia B
F9 p.Arg43Trp Pathogenic Multiple submitters
hemophilia B
F9 p.Asn392Asp Pathogenic/Likely pathogenic Multiple submitters
Warfarin sensitivity, X-linked
F9 p.Glu79Lys Likely pathogenic Multiple submitters
F9 p.Gly50Asp Likely pathogenic Multiple submitters
thrombophilia, X-linked, due to factor 9 defect
F9 p.Phe55Ile Pathogenic/Likely pathogenic Multiple submitters
hemophilia B
F9 p.Thr342Ala Likely pathogenic Multiple submitters
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ala173Gly Likely pathogenic Single submitter
hemophilia B
F9 p.Ala192Pro Likely pathogenic Single submitter
hemophilia B
F9 p.Ala380Thr Pathogenic Single submitter
hemophilia B
F9 p.Arg140Ser Likely pathogenic Single submitter
hemophilia B
F9 p.Asn306Ser Likely pathogenic Single submitter
hemophilia B
F9 p.Cys28Arg Pathogenic Single submitter
hemophilia B
F9 p.Cys28Tyr Pathogenic Single submitter
hemophilia B
F9 p.Gln167His Pathogenic Single submitter
hemophilia B
F9 p.Gly105Asp Likely pathogenic Single submitter
hemophilia B
F9 p.Gly105Val Likely pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Gly50Ala Likely pathogenic Single submitter
hemophilia B
F9 p.Gly50Ser Pathogenic Single submitter
hemophilia B
F9 p.Gly94Arg Likely pathogenic Single submitter
hemophilia B
F9 p.Leu20Ser Pathogenic Single submitter
hemophilia B
F9 p.Leu23Pro Pathogenic Single submitter
hemophilia B
F9 p.Leu383His Pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Lys362Glu Likely pathogenic Single submitter
hemophilia B
F9 p.Phe360Ser Likely pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Val153Ala Likely pathogenic Single submitter
F9 p.Val242Ile Likely pathogenic Single submitter
hemophilia B
F9 p.Val377Ala Likely pathogenic Single submitter
hemophilia B
F9 p.Val419Gly Likely pathogenic Single submitter
F9 p.Ala233Thr Pathogenic No assertion criteria
hemophilia B
F9 p.Arg384Leu Pathogenic No assertion criteria
thrombophilia, X-linked, due to factor 9 defect
F9 p.Asn166Tyr Pathogenic No assertion criteria
hemophilia B
F9 p.Asn48Tyr Pathogenic No assertion criteria
hemophilia B
F9 p.Gln237Leu Pathogenic No assertion criteria
hemophilia B
F9 p.Gly122Val Likely pathogenic No assertion criteria
hemophilia B
F9 p.Gly160Ala Pathogenic No assertion criteria
hemophilia B
F9 p.Ile344Thr Pathogenic No assertion criteria
hemophilia B
F9 p.Val153Met Likely pathogenic No assertion criteria
F9-related disorder
F9 p.Val181Phe Pathogenic No assertion criteria
hemophilia B
F9 p.Val419Glu Pathogenic No assertion criteria
hemophilia B

Predictors agree, ClinVar conflicts 5

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

F9 p.Lys446Asn Conflicting Single submitter
hemophilia B
F9 p.Ser350Ala Conflicting Single submitter
hemophilia B
F9 p.Trp356Leu Conflicting Single submitter
Abnormality of coagulation
F9 p.Val257Ile Conflicting Single submitter
hemophilia B
F9 p.Ser11Thr Conflicting No assertion criteria
hemophilia B

Predictors lean, ClinVar uncertain 60

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

F9 p.Cys268Phe Uncertain significance Expert panel
hemophilia B
F9 p.Cys268Trp Uncertain significance Expert panel
hemophilia B
F9 p.Cys435Arg Uncertain significance Expert panel
hemophilia B
F9 p.Cys435Phe Uncertain significance Expert panel
hemophilia B
F9 p.Cys435Ser Uncertain significance Expert panel
hemophilia B
F9 p.Gly412Ala Uncertain significance Expert panel
hemophilia B
F9 p.Leu369Phe Uncertain significance Expert panel
hemophilia B
F9 p.Leu383Pro Uncertain significance Multiple submitters
thrombophilia, X-linked, due to factor 9 defect
F9 p.Trp88Arg Uncertain significance Multiple submitters
hemophilia B
F9 p.Ala173Thr Uncertain significance Single submitter
hemophilia B
F9 p.Ala26Thr Uncertain significance Single submitter
Inborn genetic diseases
F9 p.Ala366Asp Uncertain significance Single submitter
F9 p.Arg162Gln Uncertain significance Single submitter
hemophilia B
F9 p.Arg46Thr Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Asn203Ser Uncertain significance Single submitter
F9 p.Asn328Lys Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Asn59Lys Uncertain significance Single submitter
F9 p.Asp405Tyr Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Glu142Gln Uncertain significance Single submitter
F9 p.Glu270Lys Uncertain significance Single submitter
F9 p.Glu27Lys Uncertain significance Single submitter
hemophilia B
F9 p.Glu320Asp Uncertain significance Single submitter
hemophilia B
F9 p.Glu63Asp Uncertain significance Single submitter
F9 p.Gly125Glu Uncertain significance Single submitter
F9 p.Gly230Ala Uncertain significance Single submitter
hemophilia B
F9 p.Gly272Asp Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Gly363Val Uncertain significance Single submitter
hemophilia B
F9 p.His267Pro Uncertain significance Single submitter
F9 p.Ile262Val Uncertain significance Single submitter
F9 p.Ile344Asn Uncertain significance Single submitter
F9 p.Ile344Phe Uncertain significance Single submitter
F9 p.Ile344Val Uncertain significance Single submitter
F9 p.Leu383Val Uncertain significance Single submitter
hemophilia B
F9 p.Leu60Pro Uncertain significance Single submitter
hemophilia B
F9 p.Lys247Thr Uncertain significance Single submitter
Abnormality of coagulation
F9 p.Lys339Glu Uncertain significance Single submitter
F9 p.Lys440Asn Uncertain significance Single submitter
F9 p.Met65Thr Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Phe144Leu Uncertain significance Single submitter
hemophilia B
F9 p.Phe360Ile Uncertain significance Single submitter
F9 p.Pro197Leu Uncertain significance Single submitter
Inborn genetic diseases
F9 p.Ser156Pro Uncertain significance Single submitter
F9 p.Thr426Pro Uncertain significance Single submitter
hemophilia B
F9 p.Thr461Ala Uncertain significance Single submitter
Inborn genetic diseases
F9 p.Trp431Leu Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Trp431Ser Uncertain significance Single submitter
F9 p.Trp88Ser Uncertain significance Single submitter
hemophilia B
F9 p.Val296Glu Uncertain significance Single submitter
hemophilia B
F9 p.Val331Phe Uncertain significance Single submitter
F9 p.Val419Met Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ala9Gly Uncertain significance No assertion criteria
F9-related disorder
F9 p.Asp249Gly Uncertain significance No assertion criteria
hemophilia B
F9 p.Glu285Asp Uncertain significance No assertion criteria
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ile336Val Uncertain significance No assertion criteria
hemophilia B
F9 p.Lys362Arg Uncertain significance No assertion criteria
hemophilia B
F9 p.Lys68Arg Uncertain significance No assertion criteria
hemophilia B
F9 p.Met8Val Uncertain significance No assertion criteria
F9-related disorder
F9 p.Val181Ala Uncertain significance No assertion criteria
hemophilia B
F9 p.Val195Asp Uncertain significance No assertion criteria
hemophilia B
F9 p.Val199Met Uncertain significance No assertion criteria
F9-related disorder

Predictors split 79

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

F9 p.Arg449Gln Uncertain significance Expert panel
hemophilia B
F9 p.Arg449Trp Uncertain significance Expert panel
hemophilia B
F9 p.Asp93Asn Pathogenic Expert panel
hemophilia B
F9 p.Leu318Phe Pathogenic Expert panel
hemophilia B
F9 p.Phe238Val Benign Expert panel
hemophilia B
F9 p.Ala317Val Pathogenic/Likely pathogenic Multiple submitters
hemophilia B
F9 p.Arg191Cys Pathogenic/Likely pathogenic Multiple submitters
thrombophilia, X-linked, due to factor 9 defect
F9 p.Arg226Trp Pathogenic/Likely pathogenic Multiple submitters
F9-related disorder
F9 p.Gly160Glu Likely pathogenic Multiple submitters
hemophilia B
F9 p.Phe55Leu Uncertain significance Multiple submitters
thrombophilia, X-linked, due to factor 9 defect
F9 p.Pro101Ala Pathogenic Multiple submitters
hemophilia B
F9 p.Ala266Thr Likely pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ala317Thr Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ala74Gly Uncertain significance Single submitter
F9 p.Arg294Leu Pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Arg358Thr Uncertain significance Single submitter
hemophilia B
F9 p.Arg379Leu Pathogenic Single submitter
hemophilia B
F9 p.Arg43Leu Pathogenic Single submitter
F9 p.Arg46Trp Uncertain significance Single submitter
F9 p.Asn138His Pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Asn138Ser Conflicting Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Asn213Tyr Uncertain significance Single submitter
F9 p.Asp95Gly Uncertain significance Single submitter
F9 p.Gln96Arg Uncertain significance Single submitter
hemophilia B
F9 p.Gln96Pro Likely pathogenic Single submitter
hemophilia B
F9 p.Glu286Asp Uncertain significance Single submitter
F9-related disorder
F9 p.Glu291Gln Conflicting Single submitter
hemophilia B
F9 p.Glu291Gly Uncertain significance Single submitter
F9 p.Glu320Gly Likely pathogenic Single submitter
hemophilia B
F9 p.Glu418Gln Uncertain significance Single submitter
Inborn genetic diseases
F9 p.Glu61Gly Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Gly122Arg Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Gly21Arg Uncertain significance Single submitter
F9 p.Gly254Ser Pathogenic Single submitter
hemophilia B
F9 p.Gly349Glu Uncertain significance Single submitter
hemophilia B
F9 p.Gly403Asp Uncertain significance Single submitter
F9 p.His282Arg Conflicting Single submitter
hemophilia A
F9 p.His314Arg Uncertain significance Single submitter
F9 p.His415Tyr Uncertain significance Single submitter
F9 p.Ile15Asn Uncertain significance Single submitter
hemophilia B
F9 p.Ile262Met Conflicting Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ile297Asn Conflicting Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Ile300Val Uncertain significance Single submitter
F9 p.Ile390Phe Likely pathogenic Single submitter
F9-related disorder
F9 p.Leu327Pro Uncertain significance Single submitter
F9 p.Leu41Arg Uncertain significance Single submitter
hemophilia B
F9 p.Lys446Gln Uncertain significance Single submitter
F9 p.Lys68Asn Uncertain significance Single submitter
F9 p.Phe123Ser Likely pathogenic Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Phe399Ser Uncertain significance Single submitter
F9 p.Phe71Leu Uncertain significance Single submitter
hemophilia B
F9 p.Pro175Ser Benign Single submitter
hemophilia B
F9 p.Pro235Gln Uncertain significance Single submitter
hemophilia B
F9 p.Pro324His Uncertain significance Single submitter
F9 p.Pro333Ser Uncertain significance Single submitter
F9 p.Ser169Pro Likely pathogenic Single submitter
hemophilia B
F9 p.Thr205Ala Uncertain significance Single submitter
F9 p.Thr417Ala Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Thr422Asn Uncertain significance Single submitter
hemophilia B
F9 p.Thr84Ala Likely benign Single submitter
hemophilia B
F9 p.Tyr312Asp Uncertain significance Single submitter
F9 p.Tyr371Cys Uncertain significance Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Val228Ala Uncertain significance Single submitter
F9 p.Val228Ile Uncertain significance Single submitter
F9 p.Val331Ile Conflicting Single submitter
thrombophilia, X-linked, due to factor 9 defect
F9 p.Val374Ile Uncertain significance Single submitter
F9 p.Val374Leu Uncertain significance Single submitter
F9 p.Val374Phe Pathogenic Single submitter
hemophilia B
F9 p.Ala37Val Pathogenic No assertion criteria
Warfarin sensitivity, X-linked
F9 p.Arg404Gly Uncertain significance No assertion criteria
hemophilia B
F9 p.Asp110Asn Pathogenic No assertion criteria
hemophilia B
F9 p.Asp95Ala Likely pathogenic No assertion criteria
hemophilia B
F9 p.Asp95Val Likely pathogenic No assertion criteria
hemophilia B
F9 p.Glu291Val Pathogenic No assertion criteria
hemophilia B
F9 p.Met394Val Pathogenic No assertion criteria
hemophilia B
F9 p.Ser406Leu Pathogenic No assertion criteria
hemophilia B
F9 p.Tyr91Asn Likely pathogenic No assertion criteria
hemophilia B
F9 p.Val377Leu Likely pathogenic No assertion criteria
haemophilia B
F9 p.Val416Ile Uncertain significance No assertion criteria
hemophilia B

All F9 variants

Pathogenic 179

c.520+13A>G Expert panel hemophilia B
c.88+1G>A Expert panel hemophilia B
p.Ala279Thr Expert panel hemophilia B ⚠
p.Ala337Thr Expert panel hemophilia B ⚠
p.Ala337Val Expert panel hemophilia B ⚠
p.Arg191His Expert panel hemophilia B ⚠
p.Arg294Gln Expert panel hemophilia B ⚠
p.Arg294Ter Expert panel hemophilia B
p.Arg75Gln Expert panel hemophilia B ⚠
p.Arg75Ter Expert panel hemophilia B
p.Asp93Asn Expert panel hemophilia B ⚠
p.Cys268Tyr Expert panel hemophilia B
p.Cys435Tyr Expert panel hemophilia B
p.Glu66Asp Expert panel hemophilia B
p.Gly106Ser Expert panel hemophilia B ⚠
p.Gly412Glu Expert panel hemophilia B
p.Gly442Arg Expert panel hemophilia B
p.Leu318Phe Expert panel hemophilia B ⚠
p.Pro324fs Expert panel hemophilia B
p.Thr342Met Expert panel hemophilia B ⚠
p.Trp240Ter Expert panel hemophilia B
c.252+5G>A Multiple submitters hemophilia B
c.723+1G>A Multiple submitters hemophilia B
c.839-1G>A Multiple submitters hemophilia B
c.-35G>A Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Ala436fs Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Arg162Ter Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Arg226Gln Multiple submitters hemophilia B ⚠
p.Arg298Ter Multiple submitters Warfarin sensitivity, X-linked
p.Arg379Gln Multiple submitters hemophilia B ⚠
p.Arg379Ter Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Arg384Ter Multiple submitters F9-related disorder
p.Arg43Gln Multiple submitters hemophilia B ⚠
p.Arg43Trp Multiple submitters hemophilia B ⚠
p.Cys102Arg Multiple submitters
p.Cys252Tyr Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Glu270Ter Multiple submitters hemophilia B
p.Pro101Ala Multiple submitters hemophilia B ⚠
p.Ser182fs Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Trp118Ter Multiple submitters hemophilia B
p.Tyr115Cys Multiple submitters hemophilia B
p.Tyr371Ter Multiple submitters
p.Val353Ala Multiple submitters thrombophilia, X-linked, due to factor 9 defect
c.253-1G>A Single submitter hemophilia B
c.253-1G>C Single submitter thrombophilia, X-linked, due to factor 9 defect
c.277+1G>T Single submitter F9-related disorder
c.278-3A>G Single submitter hemophilia B
c.392-1G>C Single submitter
c.521-35_723+84del Single submitter hemophilia A
c.724-2A>G Single submitter hemophilia B
c.88+1G>T Single submitter
c.88+2T>C Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ala380Thr Single submitter hemophilia B ⚠
p.Ala397Val Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ala436Thr Single submitter hemophilia B
p.Arg162= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg294Leu Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Arg364fs Single submitter hemophilia B
p.Arg379Leu Single submitter hemophilia B ⚠
p.Arg43Leu Single submitter ⚠
p.Asn138His Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Asn245fs Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asn48Asp Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asp315Gly Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asp93fs Single submitter Abnormality of coagulation
p.Cys119Tyr Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys141Tyr Single submitter
p.Cys157Ter Single submitter
p.Cys157Tyr Single submitter hemophilia B
p.Cys170Tyr Single submitter
p.Cys178Arg Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys178Phe Single submitter
p.Cys178Tyr Single submitter hemophilia B
p.Cys28Arg Single submitter hemophilia B ⚠
p.Cys28Tyr Single submitter hemophilia B ⚠
p.Cys382Arg Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys382fs Single submitter hemophilia B
p.Cys396Tyr Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys64Tyr Single submitter hemophilia B
p.Cys69Tyr Single submitter
p.Gln143Ter Single submitter
p.Gln167His Single submitter hemophilia B ⚠
p.Gln167Ter Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gln241= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gln370Ter Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gln90Ter Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Glu142fs Single submitter hemophilia B
p.Glu54Lys Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Glu76Lys Single submitter
p.Gly13fs Single submitter
p.Gly230Arg Single submitter
p.Gly254Ser Single submitter hemophilia B ⚠
p.Gly280Asp Single submitter hemophilia B
p.Gly357Glu Single submitter hemophilia B
p.Gly357Val Single submitter hemophilia B
p.Gly432Ser Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gly50Ser Single submitter hemophilia B ⚠
p.Gly94fs Single submitter hemophilia B
p.Ile454Thr Single submitter
p.Leu20Ser Single submitter hemophilia B ⚠
p.Leu23Pro Single submitter hemophilia B ⚠
p.Leu369fs Single submitter
p.Leu383His Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Lys387fs Single submitter hemophilia B
p.Met394Ile Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Phe395Ile Single submitter hemophilia B
p.Phe87Cys Single submitter
p.Pro177fs Single submitter hemophilia B
p.Pro414Leu Single submitter
p.Ser220Ter Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ser354Arg Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ser365Ter Single submitter hemophilia B
p.Ser406Ter Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ser411Arg Single submitter hemophilia B
p.Ser411Gly Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr81fs Single submitter hemophilia B
p.Trp261Ter Single submitter hemophilia B
p.Trp431Cys Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Trp453Ter Single submitter hemophilia B
p.Tyr330Ter Single submitter hemophilia B
p.Tyr352Ter Single submitter hemophilia B
p.Tyr391Ter Single submitter
p.Tyr47_Lys51delinsTer Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Val227Ala Single submitter moderately severe hemophilia B
p.Val248fs Single submitter hemophilia B
p.Val374Phe Single submitter hemophilia B ⚠
c.277+1G>A No assertion criteria hemophilia B
c.277+2T>C No assertion criteria hemophilia B
c.390_392-2726delinsTTCCAGTTTCAACTTGTTTCAGAGGGAAACTTTGAACATGAGTATT No assertion criteria hemophilia B
c.(391+1_392-1 No assertion criteria hemophilia B
c.723+1G>T No assertion criteria hemophilia B
c.-17del No assertion criteria hemophilia B leyden
c.-22T>C No assertion criteria hemophilia B leyden
p.Ala233Thr No assertion criteria hemophilia B ⚠
p.Ala37Val No assertion criteria Warfarin sensitivity, X-linked ⚠
p.Ala397Pro No assertion criteria hemophilia B
p.Ala436Glu No assertion criteria hemophilia B
p.Ala436Val No assertion criteria hemophilia B
p.Arg180fs No assertion criteria hemophilia B
p.Arg384Leu No assertion criteria thrombophilia, X-linked, due to factor 9 defect ⚠
p.Arg384Pro No assertion criteria hemophilia B
p.Arg46Ser No assertion criteria hemophilia B
p.Asn166fs No assertion criteria F9-related disorder
p.Asn166Tyr No assertion criteria hemophilia B ⚠
p.Asn48Tyr No assertion criteria hemophilia B ⚠
p.Asn80_Thr81insTer No assertion criteria Reduced factor IX activity
p.Asp110Asn No assertion criteria hemophilia B ⚠
p.Asp110Gly No assertion criteria hemophilia B
p.Asp131fs No assertion criteria hemophilia B
p.Asp410His No assertion criteria hemophilia B
p.Asp93Gly No assertion criteria hemophilia B
p.Cys134Ser No assertion criteria hemophilia B
p.Cys18Arg No assertion criteria hemophilia B
p.Cys252Ser No assertion criteria hemophilia B
p.Cys396Ser No assertion criteria hemophilia B
p.Gln219Ter No assertion criteria hemophilia B
p.Gln237Leu No assertion criteria hemophilia B ⚠
p.Gln237Ter No assertion criteria hemophilia B
p.Gln57Ter No assertion criteria hemophilia B
p.Glu291Val No assertion criteria hemophilia B ⚠
p.Glu72Ter No assertion criteria hemophilia B
p.Glu73Val No assertion criteria hemophilia B
p.Glu79Asp No assertion criteria hemophilia B
p.Gly160Ala No assertion criteria hemophilia B ⚠
p.Gly355Val No assertion criteria hemophilia B
p.Ile344Thr No assertion criteria hemophilia B ⚠
p.Lys457Ter No assertion criteria hemophilia B
p.Met394Val No assertion criteria hemophilia B ⚠
p.Pro333Leu No assertion criteria hemophilia B
p.Pro414Thr No assertion criteria hemophilia B
p.Ser406Leu No assertion criteria hemophilia B ⚠
p.Ser411Ile No assertion criteria hemophilia B
p.Trp356Ter No assertion criteria hemophilia B
p.Trp431Ter No assertion criteria F9-related disorder
p.Trp453Arg No assertion criteria hemophilia B
p.Val181Phe No assertion criteria hemophilia B ⚠
p.Val228Leu No assertion criteria Hemophilia b(m)
p.Val228Phe No assertion criteria hemophilia B
p.Val419Glu No assertion criteria hemophilia B ⚠

Pathogenic/Likely pathogenic 16

c.838+1_838+16del Multiple submitters hemophilia B
c.-17A>G Multiple submitters thrombophilia, X-linked, due to factor 9 defect
c.*1157A>G Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Ala317Val Multiple submitters hemophilia B ⚠
p.Arg191Cys Multiple submitters thrombophilia, X-linked, due to factor 9 defect ⚠
p.Arg226Trp Multiple submitters F9-related disorder ⚠
p.Asn392Asp Multiple submitters Warfarin sensitivity, X-linked ⚠
p.Cys128Ter Multiple submitters Warfarin sensitivity, X-linked
p.Glu285Ter Multiple submitters hemophilia B
p.Gly139Asp Multiple submitters hemophilia B
p.Gly357Arg Multiple submitters hemophilia B
p.Ile316Thr Multiple submitters hemophilia B
p.Ile443Thr Multiple submitters Warfarin sensitivity, X-linked
p.Leu244Ser Multiple submitters hemophilia B
p.Phe55Ile Multiple submitters hemophilia B ⚠
p.Val153= Multiple submitters hemophilia B

Likely pathogenic 103

c.88+5G>T Expert panel hemophilia B
p.Ala337Pro Expert panel hemophilia B ⚠
p.Cys268Arg Expert panel hemophilia B
p.Cys268Gly Expert panel hemophilia B
p.Cys268Ser Expert panel hemophilia B
p.Cys435Gly Expert panel hemophilia B
p.Glu66Lys Expert panel hemophilia B
p.Glu66Val Expert panel hemophilia B
p.Gly442Ala Expert panel hemophilia B
p.Gly442Glu Expert panel hemophilia B
p.Gly442Val Expert panel hemophilia B
p.Ile136Thr Expert panel hemophilia B ⚠
p.Leu318Arg Expert panel hemophilia B
p.Leu369Pro Expert panel hemophilia B
p.Leu372Pro Expert panel hemophilia B
p.Leu52Ser Expert panel hemophilia B
p.Thr29Ile Expert panel hemophilia B ⚠
p.Val174Met Expert panel hemophilia B ⚠
p.Val30Ile Expert panel hemophilia B ⚠
p.Val30Leu Expert panel hemophilia B ⚠
p.Cys64Arg Multiple submitters hemophilia B
p.Glu79Lys Multiple submitters ⚠
p.Gly160Glu Multiple submitters hemophilia B ⚠
p.Gly50Asp Multiple submitters thrombophilia, X-linked, due to factor 9 defect ⚠
p.Thr342Ala Multiple submitters thrombophilia, X-linked, due to factor 9 defect ⚠
p.Thr84Ile Multiple submitters hemophilia B
c.277+5G>A Single submitter hemophilia B
c.391+5G>A Single submitter hemophilia B
c.724-5_731del Single submitter hemophilia A
c.88+5_88+8del Single submitter hemophilia B
p.Ala173Gly Single submitter hemophilia B ⚠
p.Ala192Pro Single submitter hemophilia B ⚠
p.Ala266Thr Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Ala279Pro Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg140Ser Single submitter hemophilia B ⚠
p.Asn306Ser Single submitter hemophilia B ⚠
p.Asn393del Single submitter hemophilia B
p.Asp315Glu Single submitter hemophilia B
p.Asp405Val Single submitter
p.Asp410Val Single submitter
p.Cys128Arg Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys155Ser Single submitter F9-related disorder
p.Cys335Phe Single submitter hemophilia B
p.Cys335Tyr Single submitter hemophilia B
p.Cys382Ser Single submitter
p.Cys407Ser Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys69Ser Single submitter
p.Gln241Arg Single submitter
p.Gln96Pro Single submitter hemophilia B ⚠
p.Glu320Gly Single submitter hemophilia B ⚠
p.Glu433Gly Single submitter hemophilia B
p.Glu54Val Single submitter
p.Glu79Val Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gly105Asp Single submitter hemophilia B ⚠
p.Gly105Val Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Gly125Arg Single submitter hemophilia B
p.Gly160Arg Single submitter
p.Gly236Leu Single submitter F9-related disorder
p.Gly253Arg Single submitter hemophilia A
p.Gly280Ala Single submitter hemophilia B
p.Gly398Val Single submitter hemophilia B
p.Gly402Arg Single submitter hemophilia B
p.Gly409Arg Single submitter
p.Gly409Val Single submitter hemophilia B
p.Gly432Ala Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gly50Ala Single submitter hemophilia B ⚠
p.Gly94Arg Single submitter hemophilia B ⚠
p.His415fs Single submitter
p.Ile390Phe Single submitter F9-related disorder ⚠
p.Ile428Phe Single submitter
p.Lys362Glu Single submitter hemophilia B ⚠
p.Lys89Ter Single submitter
p.Phe123Ser Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Phe360Ser Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Phe424Leu Single submitter hemophilia B
p.Pro101Gln Single submitter hemophilia B
p.Ser169Pro Single submitter hemophilia B ⚠
p.Ser329fs Single submitter Bleeding and platelet disorders
p.Ser430Arg Single submitter
p.Ser430Asn Single submitter
p.Thr276fs Single submitter hemophilia B
p.Thr458fs Single submitter hemophilia B
p.Trp240Gly Single submitter hemophilia B
p.Tyr161Cys Single submitter hemophilia B
p.Tyr450Cys Single submitter
p.Val153Ala Single submitter ⚠
p.Val228Gly Single submitter hemophilia B
p.Val242Ile Single submitter hemophilia B ⚠
p.Val377Ala Single submitter hemophilia B ⚠
p.Val419Gly Single submitter ⚠
c.391+5_391+8del No assertion criteria hemophilia B
p.Asn295_Arg298del No assertion criteria hemophilia B
p.Asp95Ala No assertion criteria hemophilia B ⚠
p.Asp95Val No assertion criteria hemophilia B ⚠
p.Cys252Trp No assertion criteria hemophilia B
p.Cys335Trp No assertion criteria hemophilia B
p.Gly122Val No assertion criteria hemophilia B ⚠
p.Tyr305Cys No assertion criteria hemophilia B
p.Tyr47Ter No assertion criteria hemophilia B
p.Tyr91Asn No assertion criteria hemophilia B ⚠
p.Val153Met No assertion criteria F9-related disorder ⚠
p.Val174fs No assertion criteria hemophilia B
p.Val377Leu No assertion criteria haemophilia B ⚠

Conflicting classifications of pathogenicity 13

p.Asn138Ser Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Glu291Gln Single submitter hemophilia B ⚠
p.His282Arg Single submitter hemophilia A ⚠
p.Ile262Met Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Ile297Asn Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Lys446Asn Single submitter hemophilia B ⚠
p.Ser350Ala Single submitter hemophilia B ⚠
p.Thr29= Single submitter hemophilia B
p.Trp356Leu Single submitter Abnormality of coagulation ⚠
p.Tyr444= Single submitter hemophilia B
p.Val257Ile Single submitter hemophilia B ⚠
p.Val331Ile Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Ser11Thr No assertion criteria hemophilia B ⚠

Benign 35

c.391+7A>G Expert panel hemophilia B
c.88+75A>G Expert panel hemophilia B
p.Arg384Gln Expert panel hemophilia B
p.Arg3Cys Expert panel hemophilia B
p.Arg3His Expert panel hemophilia B
p.Asn36= Expert panel hemophilia B
p.Ile17= Expert panel hemophilia B
p.Ile7Phe Expert panel hemophilia B
p.Leu20= Expert panel hemophilia B
p.Phe238Val Expert panel hemophilia B ⚠
p.Ser365= Expert panel hemophilia B
p.Thr194Ala Expert panel hemophilia B
c.391+10T>G Multiple submitters hemophilia B
c.839-20dup Multiple submitters
c.*687G>A Multiple submitters hemophilia B
p.Gln370= Multiple submitters hemophilia B
p.Ser169= Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Thr461Pro Multiple submitters hemophilia B
c.277+102G>C Single submitter
c.391+4A>G Single submitter hemophilia B
c.89-10del Single submitter hemophilia B
c.*476C>A Single submitter hemophilia B
c.*606G>A Single submitter hemophilia B
c.*828GT[6] Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asn38= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asp111= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asp232= Single submitter hemophilia B
p.Asp322= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Glu171= Single submitter hemophilia B
p.Glu418= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ile256= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Pro175Ser Single submitter hemophilia B ⚠
p.Thr16= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Val227Ile Single submitter hemophilia B
p.Val278= Single submitter thrombophilia, X-linked, due to factor 9 defect

Benign/Likely benign 6

c.278-27A>G Multiple submitters thrombophilia, X-linked, due to factor 9 defect
p.Glu323Lys Multiple submitters hemophilia B
p.His303Tyr Multiple submitters Warfarin sensitivity, X-linked
p.Ser220Thr Multiple submitters Warfarin sensitivity, X-linked
p.Ter462= Multiple submitters Inborn genetic diseases
p.Val273= Multiple submitters thrombophilia, X-linked, due to factor 9 defect

Likely benign 172

p.Leu369= Expert panel hemophilia B
p.Pro44Ser Expert panel hemophilia B
c.520+19T>C Multiple submitters hemophilia B
p.Cys155= Multiple submitters hemophilia B
p.Gly246= Multiple submitters hemophilia B
p.Ser406= Multiple submitters thrombophilia, X-linked, due to factor 9 defect
c.252+12C>T Single submitter hemophilia B
c.252+14C>T Single submitter hemophilia B
c.252+15A>G Single submitter thrombophilia, X-linked, due to factor 9 defect
c.252+16T>C Single submitter thrombophilia, X-linked, due to factor 9 defect
c.252+18A>G Single submitter hemophilia B
c.252+20A>G Single submitter hemophilia B
c.253-12T>C Single submitter hemophilia B
c.253-8C>T Single submitter hemophilia B
c.277+14T>C Single submitter hemophilia B
c.277+19C>T Single submitter hemophilia B
c.277+7A>G Single submitter hemophilia B
c.278-12C>T Single submitter thrombophilia, X-linked, due to factor 9 defect
c.278-13A>C Single submitter hemophilia B
c.278-4A>G Single submitter thrombophilia, X-linked, due to factor 9 defect
c.391+11A>G Single submitter thrombophilia, X-linked, due to factor 9 defect
c.391+9C>G Single submitter hemophilia B
c.392-10C>T Single submitter hemophilia B
c.392-20_392-17del Single submitter thrombophilia, X-linked, due to factor 9 defect
c.392-20G>A Single submitter hemophilia B
c.392-7C>A Single submitter thrombophilia, X-linked, due to factor 9 defect
c.520+10T>C Single submitter hemophilia B
c.520+9C>A Single submitter hemophilia B
c.521-10A>G Single submitter thrombophilia, X-linked, due to factor 9 defect
c.521-11T>C Single submitter hemophilia B
c.521-12C>T Single submitter thrombophilia, X-linked, due to factor 9 defect
c.521-13T>C Single submitter hemophilia B
c.521-17T>C Single submitter hemophilia B
c.521-5del Single submitter hemophilia B
c.521-7T>C Single submitter thrombophilia, X-linked, due to factor 9 defect
c.723+11C>T Single submitter hemophilia B
c.723+14A>T Single submitter thrombophilia, X-linked, due to factor 9 defect
c.723+15T>C Single submitter hemophilia B
c.723+7T>C Single submitter hemophilia B
c.724-4A>G Single submitter hemophilia B
c.838+16G>T Single submitter thrombophilia, X-linked, due to factor 9 defect
c.838+17A>C Single submitter thrombophilia, X-linked, due to factor 9 defect
c.838+18A>G Single submitter hemophilia B
c.838+18del Single submitter hemophilia B
c.839-16A>G Single submitter hemophilia B
c.88+10_88+11del Single submitter hemophilia B
c.88+10C>G Single submitter thrombophilia, X-linked, due to factor 9 defect
c.88+16T>A Single submitter thrombophilia, X-linked, due to factor 9 defect
c.88+20A>T Single submitter hemophilia B
c.88+8T>C Single submitter hemophilia B
c.89-14C>A Single submitter thrombophilia, X-linked, due to factor 9 defect
c.89-15del Single submitter hemophilia B
c.89-19T>A Single submitter hemophilia B
c.89-20A>G Single submitter hemophilia B
c.89-7A>G Single submitter hemophilia B
c.89-9A>G Single submitter hemophilia B
c.*1048G>A Single submitter hemophilia B
p.Ala207= Single submitter hemophilia B
p.Ala233= Single submitter hemophilia B
p.Ala250= Single submitter hemophilia B
p.Ala397= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ala9= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg191= Single submitter hemophilia B
p.Arg226= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg298= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg3= Single submitter hemophilia B
p.Arg358= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg364= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg373= Single submitter hemophilia B
p.Arg3Ser Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg43= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Arg449= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asn113= Single submitter hemophilia B
p.Asn245= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asn258= Single submitter hemophilia B
p.Asn295= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asn343= Single submitter hemophilia B
p.Asn36Asp Single submitter hemophilia B
p.Asn5= Single submitter hemophilia B
p.Asn59= Single submitter hemophilia B
p.Asp249= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Asp315= Single submitter hemophilia B
p.Asp378= Single submitter hemophilia B
p.Asp410= Single submitter hemophilia B
p.Cys108= Single submitter hemophilia B
p.Cys128= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys134= Single submitter hemophilia B
p.Cys141= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys18= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Cys435= Single submitter hemophilia B
p.Cys64= Single submitter hemophilia B
p.Gln185= Single submitter hemophilia B
p.Glu142= Single submitter hemophilia B
p.Glu193= Single submitter hemophilia B
p.Glu323= Single submitter hemophilia B
p.Glu434= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Glu67= Single submitter hemophilia B
p.Glu98= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gly105= Single submitter hemophilia B
p.Gly254= Single submitter hemophilia B
p.Gly280= Single submitter hemophilia B
p.Gly402= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Gly403= Single submitter hemophilia B
p.Gly427= Single submitter hemophilia B
p.Gly432= Single submitter hemophilia B
p.His267= Single submitter hemophilia B
p.His282Tyr Single submitter thrombophilia, X-linked, due to factor 9 defect
p.His302= Single submitter hemophilia B
p.His303= Single submitter hemophilia B
p.His34= Single submitter hemophilia B
p.Ile112= Single submitter hemophilia B
p.Ile316= Single submitter hemophilia B
p.Ile334= Single submitter hemophilia B
p.Ile344= Single submitter
p.Ile390= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ile428= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Leu244= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Leu321= Single submitter hemophilia B
p.Leu376= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Leu460= Single submitter hemophilia B
p.Leu52= Single submitter hemophilia B
p.Lys152= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Lys168= Single submitter hemophilia B
p.Lys260= Single submitter hemophilia B
p.Lys293= Single submitter hemophilia B
p.Lys39Arg Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Lys45= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Lys455= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Lys459= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Lys89= Single submitter hemophilia B
p.Phe238= Single submitter hemophilia B
p.Phe388= Single submitter hemophilia B
p.Phe395= Single submitter hemophilia B
p.Pro101= Single submitter hemophilia B
p.Pro12= Single submitter hemophilia B
p.Pro172= Single submitter hemophilia B
p.Pro197Ser Single submitter hemophilia B
p.Pro324= Single submitter hemophilia B
p.Pro414= Single submitter hemophilia B
p.Ser114= Single submitter hemophilia B
p.Ser148= Single submitter hemophilia B
p.Ser354= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ser411= Single submitter hemophilia B
p.Ser423= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Ser430= Single submitter hemophilia B
p.Ser448= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr133= Single submitter hemophilia B
p.Thr186= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr190= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr194= Single submitter hemophilia B
p.Thr205= Single submitter hemophilia B
p.Thr264= Single submitter hemophilia B
p.Thr287= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr342= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Thr381= Single submitter hemophilia B
p.Thr417= Single submitter hemophilia B
p.Thr84Ala Single submitter hemophilia B ⚠
p.Tyr161= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Tyr201= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Tyr312= Single submitter hemophilia B
p.Tyr330= Single submitter hemophilia B
p.Tyr47= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Tyr91= Single submitter hemophilia B
p.Val174= Single submitter hemophilia B
p.Val195Gly Single submitter hemophilia B
p.Val248= Single submitter hemophilia B
p.Val296= Single submitter hemophilia B
p.Val359= Single submitter hemophilia B
p.Val419= Single submitter thrombophilia, X-linked, due to factor 9 defect
p.Val451= Single submitter
p.Val77= Single submitter hemophilia B
c.*10G>C No assertion criteria hemophilia B

Uncertain significance 124

p.Arg449Gln Expert panel hemophilia B ⚠
p.Arg449Trp Expert panel hemophilia B ⚠
p.Cys157= Expert panel hemophilia B
p.Cys268Phe Expert panel hemophilia B ⚠
p.Cys268Trp Expert panel hemophilia B ⚠
p.Cys435Arg Expert panel hemophilia B ⚠
p.Cys435Phe Expert panel hemophilia B ⚠
p.Cys435Ser Expert panel hemophilia B ⚠
p.Gly412Ala Expert panel hemophilia B ⚠
p.Leu369Phe Expert panel hemophilia B ⚠
c.392-7_392-4del Multiple submitters hemophilia B
c.*293C>T Multiple submitters Warfarin sensitivity, X-linked
p.Leu383Pro Multiple submitters thrombophilia, X-linked, due to factor 9 defect ⚠
p.Phe55Leu Multiple submitters thrombophilia, X-linked, due to factor 9 defect ⚠
p.Trp88Arg Multiple submitters hemophilia B ⚠
c.253-3T>C Single submitter hemophilia B
c.278-11C>T Single submitter hemophilia B
c.838+3A>G Single submitter
c.89-3C>A Single submitter thrombophilia, X-linked, due to factor 9 defect
c.-19C>G Single submitter hemophilia B
c.*1122C>A Single submitter hemophilia B
c.*1283C>G Single submitter hemophilia B
c.*197G>A Single submitter hemophilia B
c.*523A>G Single submitter hemophilia B
c.*621G>A Single submitter hemophilia B
c.*794A>G Single submitter hemophilia B
c.*799A>T Single submitter hemophilia B
p.Ala173Thr Single submitter hemophilia B ⚠
p.Ala26Thr Single submitter Inborn genetic diseases ⚠
p.Ala317Thr Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Ala366Asp Single submitter ⚠
p.Ala74Gly Single submitter ⚠
p.Arg162Gln Single submitter hemophilia B ⚠
p.Arg358Thr Single submitter hemophilia B ⚠
p.Arg46Thr Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Arg46Trp Single submitter ⚠
p.Asn203Ser Single submitter ⚠
p.Asn213Tyr Single submitter ⚠
p.Asn328Lys Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Asn59Lys Single submitter ⚠
p.Asp405Tyr Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Asp95Gly Single submitter ⚠
p.Gln96Arg Single submitter hemophilia B ⚠
p.Glu142Gln Single submitter ⚠
p.Glu270Lys Single submitter ⚠
p.Glu27Lys Single submitter hemophilia B ⚠
p.Glu286Asp Single submitter F9-related disorder ⚠
p.Glu291Gly Single submitter ⚠
p.Glu320Asp Single submitter hemophilia B ⚠
p.Glu418Gln Single submitter Inborn genetic diseases ⚠
p.Glu61Gly Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Glu63Asp Single submitter ⚠
p.Gly122Arg Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Gly125Glu Single submitter ⚠
p.Gly21Arg Single submitter ⚠
p.Gly230Ala Single submitter hemophilia B ⚠
p.Gly272Asp Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Gly349Glu Single submitter hemophilia B ⚠
p.Gly363Val Single submitter hemophilia B ⚠
p.Gly403Asp Single submitter ⚠
p.His267Pro Single submitter ⚠
p.His314Arg Single submitter ⚠
p.His415Tyr Single submitter ⚠
p.Ile15Asn Single submitter hemophilia B ⚠
p.Ile262Val Single submitter ⚠
p.Ile300Val Single submitter ⚠
p.Ile344Asn Single submitter ⚠
p.Ile344Phe Single submitter ⚠
p.Ile344Val Single submitter ⚠
p.Leu327Pro Single submitter ⚠
p.Leu383Val Single submitter hemophilia B ⚠
p.Leu41Arg Single submitter hemophilia B ⚠
p.Leu60Pro Single submitter hemophilia B ⚠
p.Lys247Thr Single submitter Abnormality of coagulation ⚠
p.Lys339Glu Single submitter ⚠
p.Lys440Asn Single submitter ⚠
p.Lys446Gln Single submitter ⚠
p.Lys68Asn Single submitter ⚠
p.Met65Thr Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Phe144Leu Single submitter hemophilia B ⚠
p.Phe360Ile Single submitter ⚠
p.Phe399Ser Single submitter ⚠
p.Phe71Leu Single submitter hemophilia B ⚠
p.Pro197Leu Single submitter Inborn genetic diseases ⚠
p.Pro235Gln Single submitter hemophilia B ⚠
p.Pro324His Single submitter ⚠
p.Pro333Ser Single submitter ⚠
p.Ser156Pro Single submitter ⚠
p.Ser204= Single submitter hemophilia B
p.Thr205Ala Single submitter ⚠
p.Thr417Ala Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Thr422Asn Single submitter hemophilia B ⚠
p.Thr426Pro Single submitter hemophilia B ⚠
p.Thr461Ala Single submitter Inborn genetic diseases ⚠
p.Trp431Leu Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Trp431Ser Single submitter ⚠
p.Trp88Ser Single submitter hemophilia B ⚠
p.Tyr312Asp Single submitter ⚠
p.Tyr371Cys Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
p.Val228Ala Single submitter ⚠
p.Val228Ile Single submitter ⚠
p.Val296Glu Single submitter hemophilia B ⚠
p.Val331Phe Single submitter ⚠
p.Val374Ile Single submitter ⚠
p.Val374Leu Single submitter ⚠
p.Val419Met Single submitter thrombophilia, X-linked, due to factor 9 defect ⚠
c.*2G>A No assertion criteria hemophilia B
p.Ala9Gly No assertion criteria F9-related disorder ⚠
p.Arg379= No assertion criteria hemophilia B
p.Arg404Gly No assertion criteria hemophilia B ⚠
p.Asn283= No assertion criteria hemophilia B
p.Asp249Gly No assertion criteria hemophilia B ⚠
p.Cys117= No assertion criteria hemophilia B
p.Gln408= No assertion criteria hemophilia B
p.Glu285Asp No assertion criteria thrombophilia, X-linked, due to factor 9 defect ⚠
p.Glu286= No assertion criteria hemophilia B
p.Ile336Val No assertion criteria hemophilia B ⚠
p.Lys362Arg No assertion criteria hemophilia B ⚠
p.Lys68Arg No assertion criteria hemophilia B ⚠
p.Met8Val No assertion criteria F9-related disorder ⚠
p.Val181Ala No assertion criteria hemophilia B ⚠
p.Val195Asp No assertion criteria hemophilia B ⚠
p.Val199Met No assertion criteria F9-related disorder ⚠
p.Val416Ile No assertion criteria hemophilia B ⚠