F11 — 755 ClinVar variants
All ClinVar germline F11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →
57 Pathogenic · 38 Pathogenic/Likely pathogenic · 117 Likely pathogenic · 45 Conflicting · 54 Benign · 7 Benign/Likely benign · 226 Likely benign · 211 Uncertain significance
Full F11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 212
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 19
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
F11 p.Ala109Thr
Pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Arg326His
Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Arg396Cys
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Glu315Lys
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Glu341Lys
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Glu597Lys
Likely pathogenic
Multiple submitters
congenital factor XI deficiency
-
F11 p.Lys536Asn
Pathogenic/Likely pathogenic
Multiple submitters
congenital factor XI deficiency
-
F11 p.Pro206Ser
Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Pro538Leu
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Ser243Phe
Pathogenic/Likely pathogenic
Multiple submitters
congenital factor XI deficiency
- F11 p.Ala63Gly Likely pathogenic Single submitter
-
F11 p.Gly390Ala
Likely pathogenic
Single submitter
Plasma factor XI deficiency
-
F11 p.His145Pro
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.His53Tyr
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Leu373Ser
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Lys101Arg
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Pro41Leu
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Phe460Val
Pathogenic
No assertion criteria
congenital factor XI deficiency
-
F11 p.Val325Phe
Likely pathogenic
No assertion criteria
congenital factor XI deficiency
Predictors agree, ClinVar conflicts 12
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
F11 p.Arg268His
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Cys200Tyr
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Gln244Arg
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Glu620Gln
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Gly122Asp
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.His145Arg
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Ile618Ser
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Lys270Ile
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Pro66Ser
Conflicting
Single submitter
Inborn genetic diseases
- F11 p.Ser266Asn Conflicting Single submitter
-
F11 p.Thr51Ile
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Tyr608His
Conflicting
Single submitter
congenital factor XI deficiency
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
F11 p.Glu261Asp
Uncertain significance
Multiple submitters
Abnormal bleeding
-
F11 p.Glu543Lys
Uncertain significance
Multiple submitters
congenital factor XI deficiency
-
F11 p.Ile537Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F11 p.Leu350Pro
Uncertain significance
Multiple submitters
congenital factor XI deficiency
- F11 p.Ala194Val Uncertain significance Single submitter
-
F11 p.Ala310Asp
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Ala337Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Ala430Val
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Ala570Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Arg154Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Arg228Gln
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Arg252Ser
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Arg284Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Arg497Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Asn323Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Asn530Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Asp212Asn
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Asp222Glu Uncertain significance Single submitter
-
F11 p.Cys283Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Cys380Arg
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Cys514Phe Uncertain significance Single submitter
-
F11 p.Cys545Arg
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Gln6Arg Uncertain significance Single submitter
-
F11 p.Glu138Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Glu379Asp
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Glu585Gly Uncertain significance Single submitter
-
F11 p.Gly187Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Gly365Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Gly365Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Gly551Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Gly576Glu Uncertain significance Single submitter
-
F11 p.Gly591Ala
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.His361Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.His53Gln Uncertain significance Single submitter
-
F11 p.Ile510Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Leu350Ile Uncertain significance Single submitter
-
F11 p.Leu360Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Leu360Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Leu442Phe Uncertain significance Single submitter
- F11 p.Leu442Ser Uncertain significance Single submitter
-
F11 p.Lys112Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Lys553Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Met219Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Phe156Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Phe30Ser
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Pro400Thr Uncertain significance Single submitter
-
F11 p.Ser104Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Ser260Pro Uncertain significance Single submitter
-
F11 p.Ser266Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Ser293Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Ser42Arg Uncertain significance Single submitter
-
F11 p.Ser503Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Ser99Tyr Uncertain significance Single submitter
-
F11 p.Thr170Ser
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Thr240Ile
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Thr404Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Thr609Asn Uncertain significance Single submitter
-
F11 p.Trp425Cys
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Tyr369Cys
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Tyr369Ser Uncertain significance Single submitter
-
F11 p.Tyr549Cys
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Val218Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Val289Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Val463Asp
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Ala199Pro
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Ala535Val
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Ala561Asp
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Ala63Val
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Arg154Thr
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Cys581Arg
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Gly187Val
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Gly227Asp
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Gly391Arg
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.His292Tyr
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.His361Arg
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.His9Arg
Uncertain significance
No assertion criteria
F11-related disorder
-
F11 p.Ile215Val
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Leu589Pro
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Lys183Gln
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Phe30Cys
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Pro157Ser
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Ser132Asn
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Ser266Arg
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr170Asn
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr179Met
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr259Ile
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr407Lys
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Thr428Ile
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Thr75Asn
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Trp515Cys
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
Predictors split 91
The independent predictors disagree with each other — read with care.
-
F11 p.Arg326Cys
Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Asp69Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- F11 p.Gly32Arg Uncertain significance Multiple submitters
-
F11 p.Gly478Arg
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Phe301Leu
Pathogenic/Likely pathogenic
Multiple submitters
Factor XI
-
F11 p.Pro400Leu
Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Thr150Met
Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Thr407Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
F11 p.Thr593Met
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Tyr125Cys
Uncertain significance
Multiple submitters
congenital factor XI deficiency
-
F11 p.Val516Met
Pathogenic/Likely pathogenic
Multiple submitters
Plasma factor XI deficiency
-
F11 p.Ala316Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Ala430Ser
Conflicting
Single submitter
congenital factor XI deficiency
- F11 p.Ala43Thr Uncertain significance Single submitter
-
F11 p.Arg162Cys
Conflicting
Single submitter
congenital factor XI deficiency
- F11 p.Arg162His Uncertain significance Single submitter
-
F11 p.Arg268Cys
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Arg443Cys
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Arg443His
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Arg72Pro Uncertain significance Single submitter
-
F11 p.Arg91Met
Likely benign
Single submitter
Inborn genetic diseases
-
F11 p.Asn542Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Asn584Ile
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Asn584Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Asn90Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Asp119Glu Uncertain significance Single submitter
-
F11 p.Asp307Val
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Asp34His Uncertain significance Single submitter
- F11 p.Glu245Gly Uncertain significance Single submitter
-
F11 p.Glu245Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Glu398Lys
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Glu543Gly Uncertain significance Single submitter
-
F11 p.Glu565Lys
Conflicting
Single submitter
Plasma factor XI deficiency
-
F11 p.Glu613Lys
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Gly263Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Gly344Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Gly368Ala
Conflicting
Single submitter
congenital factor XI deficiency
-
F11 p.Gly567Arg
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.His406Pro
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Ile420Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Ile421Thr
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Ile454Lys
Likely pathogenic
Single submitter
Plasma factor XI deficiency
- F11 p.Ile454Val Uncertain significance Single submitter
-
F11 p.Ile618Val
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Leu264Trp
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Leu483Phe Uncertain significance Single submitter
-
F11 p.Leu486Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Lys473Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Phe156Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Pro247Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Pro410Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Pro538His Uncertain significance Single submitter
-
F11 p.Ser17Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Ser419Thr Likely benign Single submitter
-
F11 p.Thr141Met
Conflicting
Single submitter
Plasma factor XI deficiency
- F11 p.Thr150Ala Uncertain significance Single submitter
- F11 p.Thr176Ile Uncertain significance Single submitter
-
F11 p.Thr299Ser
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Thr404Asn
Uncertain significance
Single submitter
congenital factor XI deficiency
- F11 p.Thr40Ile Uncertain significance Single submitter
- F11 p.Thr493Arg Uncertain significance Single submitter
-
F11 p.Thr51Pro
Pathogenic
Single submitter
Plasma factor XI deficiency
-
F11 p.Thr593Ala
Conflicting
Single submitter
congenital factor XI deficiency
- F11 p.Thr593Ser Conflicting Single submitter
-
F11 p.Thr60Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Trp73Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- F11 p.Tyr151Cys Uncertain significance Single submitter
-
F11 p.Tyr445His
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Tyr521Cys
Pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Val129Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Val38Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Val403Leu
Uncertain significance
Single submitter
F11-related disorder
-
F11 p.Val463Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
F11 p.Val490Ala
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Val611Met
Likely pathogenic
Single submitter
congenital factor XI deficiency
-
F11 p.Val77Ala
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Val89Met
Uncertain significance
Single submitter
congenital factor XI deficiency
-
F11 p.Ala570Gly
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Arg507Gly
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Arg91Trp
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Asp117Tyr
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Asp119Gly
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Asp506Gly
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Gly362Arg
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Ile554Val
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Lys527Glu
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Pro334Leu
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr231Pro
Uncertain significance
No assertion criteria
congenital factor XI deficiency
-
F11 p.Thr392Ala
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
-
F11 p.Thr493Ile
Likely pathogenic
No assertion criteria
congenital factor XI deficiency
-
F11 p.Tyr521His
Uncertain significance
No assertion criteria
Plasma factor XI deficiency
All F11 variants
Pathogenic 57
- c.1136-7_1136-4del Multiple submitters Plasma factor XI deficiency
- c.1716+1G>A Multiple submitters Plasma factor XI deficiency
- c.325+1G>A Multiple submitters Plasma factor XI deficiency
- c.326-1G>A Multiple submitters Plasma factor XI deficiency
- c.755+2T>C Multiple submitters F11-related disorder
- p.Ala109Thr Multiple submitters Plasma factor XI deficiency ⚠
- p.Arg72Ter Multiple submitters congenital factor XI deficiency
- p.Cys136Ter Multiple submitters Plasma factor XI deficiency
- p.Cys140Tyr Multiple submitters
- p.Cys321fs Multiple submitters Plasma factor XI deficiency
- p.Cys327Ter Multiple submitters Plasma factor XI deficiency
- p.Gln244Ter Multiple submitters Plasma factor XI deficiency
- p.Gln281Ter Multiple submitters Plasma factor XI deficiency
- p.Gln6Ter Multiple submitters Plasma factor XI deficiency
- p.Glu135Ter Multiple submitters Plasma factor XI deficiency
- p.Gly303fs Multiple submitters Plasma factor XI deficiency
- p.Gly368Glu Multiple submitters congenital factor XI deficiency
- p.Ile481fs Multiple submitters Plasma factor XI deficiency
- p.Leu442fs Multiple submitters Plasma factor XI deficiency
- p.Thr428fs Multiple submitters congenital factor XI deficiency
- p.Trp246Ter Multiple submitters Plasma factor XI deficiency
- p.Trp519Ter Multiple submitters Plasma factor XI deficiency
- p.Tyr369Ter Multiple submitters Plasma factor XI deficiency
- c.1135+1G>A Single submitter Plasma factor XI deficiency
- c.55+1del Single submitter
- c.-1-4_11del Single submitter
- p.Arg413fs Single submitter Plasma factor XI deficiency
- p.Asp457fs Single submitter
- p.Cys327fs Single submitter
- p.Cys56Ter Single submitter
- p.Gln102Ter Single submitter
- p.Gln336Ter Single submitter
- p.Gln464Ter Single submitter congenital factor XI deficiency
- p.Glu543Ter Single submitter
- p.Gly505fs Single submitter
- p.Gly576Ter Single submitter
- p.His145fs Single submitter
- p.His414fs Single submitter
- p.Ile441fs Single submitter congenital factor XI deficiency
- p.Leu254fs Single submitter
- p.Lys455fs Single submitter Plasma factor XI deficiency
- p.Lys582fs Single submitter
- p.Ser196fs Single submitter
- p.Ser243fs Single submitter
- p.Thr150fs Single submitter
- p.Thr240fs Single submitter congenital factor XI deficiency
- p.Thr259fs Single submitter congenital factor XI deficiency
- p.Thr489fs Single submitter
- p.Thr51Pro Single submitter Plasma factor XI deficiency ⚠
- p.Trp399Ter Single submitter factor XI deficiency
- p.Trp73fs Single submitter
- p.Tyr521Cys Single submitter congenital factor XI deficiency ⚠
- p.Tyr521fs Single submitter Plasma factor XI deficiency
- c.1029-2A>G No assertion criteria congenital factor XI deficiency
- c.485+5G>C No assertion criteria congenital factor XI deficiency
- p.Phe460Val No assertion criteria congenital factor XI deficiency ⚠
- p.Trp587Ser No assertion criteria congenital factor XI deficiency
Pathogenic/Likely pathogenic 38
- c.595+3A>G Multiple submitters Plasma factor XI deficiency
- p.Ala430Thr Multiple submitters Plasma factor XI deficiency
- p.Arg228Ter Multiple submitters Plasma factor XI deficiency
- p.Arg396Cys Multiple submitters Plasma factor XI deficiency ⚠
- p.Arg497Ter Multiple submitters Plasma factor XI deficiency
- p.Cys103Ter Multiple submitters Plasma factor XI deficiency
- p.Cys146Ter Multiple submitters Plasma factor XI deficiency
- p.Cys230Ser Multiple submitters congenital factor XI deficiency
- p.Cys416Tyr Multiple submitters congenital factor XI deficiency
- p.Cys500Trp Multiple submitters congenital factor XI deficiency
- p.Cys56Arg Multiple submitters Plasma factor XI deficiency
- p.Gln134Ter Multiple submitters Plasma factor XI deficiency
- p.Gln23Ter Multiple submitters congenital factor XI deficiency
- p.Gln402Ter Multiple submitters congenital factor XI deficiency
- p.Gln412Ter Multiple submitters Plasma factor XI deficiency
- p.Glu315Lys Multiple submitters Plasma factor XI deficiency ⚠
- p.Glu341Lys Multiple submitters Plasma factor XI deficiency ⚠
- p.Gly342= Multiple submitters Plasma factor XI deficiency
- p.Gly354Arg Multiple submitters Plasma factor XI deficiency
- p.Gly418Val Multiple submitters Plasma factor XI deficiency
- p.Gly478Arg Multiple submitters Plasma factor XI deficiency ⚠
- p.Gly591Asp Multiple submitters congenital factor XI deficiency
- p.Ile215_Asp216del Multiple submitters congenital factor XI deficiency
- p.Ile359fs Multiple submitters Inborn genetic diseases
- p.Leu190Pro Multiple submitters Plasma factor XI deficiency
- p.Leu483fs Multiple submitters Plasma factor XI deficiency
- p.Lys536Asn Multiple submitters congenital factor XI deficiency ⚠
- p.Met1Ile Multiple submitters Plasma factor XI deficiency
- p.Phe301Leu Multiple submitters Factor XI ⚠
- p.Pro538Leu Multiple submitters Plasma factor XI deficiency ⚠
- p.Ser243Phe Multiple submitters congenital factor XI deficiency ⚠
- p.Ser438Ter Multiple submitters Plasma factor XI deficiency
- p.Ser594Arg Multiple submitters congenital factor XI deficiency
- p.Thr322Ile Multiple submitters Plasma factor XI deficiency
- p.Thr593Met Multiple submitters Plasma factor XI deficiency ⚠
- p.Trp519Cys Multiple submitters Plasma factor XI deficiency
- p.Trp73Ter Multiple submitters Plasma factor XI deficiency
- p.Val516Met Multiple submitters Plasma factor XI deficiency ⚠
Likely pathogenic 117
- c.1136-1G>C Multiple submitters Plasma factor XI deficiency
- c.1480+1G>T Multiple submitters
- c.1481-1G>C Multiple submitters Plasma factor XI deficiency
- c.1481-1G>T Multiple submitters Plasma factor XI deficiency
- c.865+2T>C Multiple submitters congenital factor XI deficiency
- p.Arg326Cys Multiple submitters Plasma factor XI deficiency ⚠
- p.Arg326His Multiple submitters Plasma factor XI deficiency ⚠
- p.Asp222Tyr Multiple submitters Plasma factor XI deficiency
- p.Glu597Lys Multiple submitters congenital factor XI deficiency ⚠
- p.Gly368Arg Multiple submitters congenital factor XI deficiency
- p.Gly573Glu Multiple submitters Plasma factor XI deficiency
- p.Pro206Ser Multiple submitters Plasma factor XI deficiency ⚠
- p.Pro400Leu Multiple submitters Plasma factor XI deficiency ⚠
- p.Ser575Leu Multiple submitters congenital factor XI deficiency
- p.Thr150Met Multiple submitters Plasma factor XI deficiency ⚠
- p.Tyr115fs Multiple submitters Plasma factor XI deficiency
- p.Tyr52Ter Multiple submitters Plasma factor XI deficiency
- c.1028+1G>C Single submitter Plasma factor XI deficiency
- c.1029-2A>C Single submitter Plasma factor XI deficiency
- c.1136-1G>A Single submitter F11-related disorder
- c.1305-2A>G Single submitter congenital factor XI deficiency
- c.1305-2A>T Single submitter Plasma factor XI deficiency
- c.1480+1G>A Single submitter Plasma factor XI deficiency
- c.1480+1G>C Single submitter Plasma factor XI deficiency
- c.1480+2T>C Single submitter Plasma factor XI deficiency
- c.1577-1G>C Single submitter F11-related disorder
- c.218+1G>A Single submitter congenital factor XI deficiency
- c.325+1G>T Single submitter congenital factor XI deficiency
- c.485+1G>A Single submitter
- c.485+1G>T Single submitter congenital factor XI deficiency
- c.485+2T>C Single submitter
- c.486-2A>G Single submitter congenital factor XI deficiency
- c.55+2T>C Single submitter
- c.596-7_600del Single submitter Plasma factor XI deficiency
- c.596-8T>A Single submitter Plasma factor XI deficiency
- c.752_755+25delinsT Single submitter congenital factor XI deficiency
- c.755+1G>A Single submitter
- c.755+1G>C Single submitter
- c.756-1G>T Single submitter
- c.865+1G>A Single submitter
- p.Ala223fs Single submitter congenital factor XI deficiency
- p.Ala63Gly Single submitter ⚠
- p.Arg139Ter Single submitter congenital factor XI deficiency
- p.Asp222fs Single submitter Plasma factor XI deficiency
- p.Asp470fs Single submitter congenital factor XI deficiency
- p.Cys20Ter Single submitter congenital factor XI deficiency
- p.Cys230Arg Single submitter
- p.Cys321Ter Single submitter congenital factor XI deficiency
- p.Cys374Arg Single submitter congenital factor XI deficiency
- p.Cys500Arg Single submitter Plasma factor XI deficiency
- p.Cys545Tyr Single submitter Plasma factor XI deficiency
- p.Cys56fs Single submitter Plasma factor XI deficiency
- p.Cys76Ter Single submitter congenital factor XI deficiency
- p.Gln244fs Single submitter congenital factor XI deficiency
- p.Gln424Ter Single submitter Plasma factor XI deficiency
- p.Gln451Ter Single submitter congenital factor XI deficiency
- p.Gln471Ter Single submitter Plasma factor XI deficiency
- p.Gln496Ter Single submitter congenital factor XI deficiency
- p.Gln546Ter Single submitter
- p.Glu261Ter Single submitter Plasma factor XI deficiency
- p.Glu398Ter Single submitter Plasma factor XI deficiency
- p.Glu456fs Single submitter congenital factor XI deficiency
- p.Gly390Ala Single submitter Plasma factor XI deficiency ⚠
- p.Gly562fs Single submitter Plasma factor XI deficiency
- p.His145Pro Single submitter congenital factor XI deficiency ⚠
- p.His406Pro Single submitter congenital factor XI deficiency ⚠
- p.His53Tyr Single submitter congenital factor XI deficiency ⚠
- p.Ile164fs Single submitter congenital factor XI deficiency
- p.Ile454Lys Single submitter Plasma factor XI deficiency ⚠
- p.Leu195_Ser196insTer Single submitter Plasma factor XI deficiency
- p.Leu373Ser Single submitter congenital factor XI deficiency ⚠
- p.Lys101Arg Single submitter congenital factor XI deficiency ⚠
- p.Lys271fs Single submitter Plasma factor XI deficiency
- p.Met120Thr Single submitter congenital factor XI deficiency
- p.Phe13fs Single submitter congenital factor XI deficiency
- p.Phe205fs Single submitter congenital factor XI deficiency
- p.Phe239fs Single submitter Plasma factor XI deficiency
- p.Phe241Leu Single submitter congenital factor XI deficiency
- p.Phe30fs Single submitter congenital factor XI deficiency
- p.Phe330fs Single submitter Plasma factor XI deficiency
- p.Phe460Leu Single submitter Plasma factor XI deficiency
- p.Phe59fs Single submitter congenital factor XI deficiency
- p.Pro41Leu Single submitter congenital factor XI deficiency ⚠
- p.Ser294fs Single submitter congenital factor XI deficiency
- p.Ser294Ter Single submitter Plasma factor XI deficiency
- p.Ser81fs Single submitter Plasma factor XI deficiency
- p.Ser99fs Single submitter
- p.Thr150Lys Single submitter
- p.Thr179fs Single submitter Plasma factor XI deficiency
- p.Trp246fs Single submitter congenital factor XI deficiency
- p.Trp425Arg Single submitter factor XI deficiency
- p.Trp519Ser Single submitter Plasma factor XI deficiency
- p.Tyr296Ter Single submitter Plasma factor XI deficiency
- p.Tyr445Ter Single submitter congenital factor XI deficiency
- p.Tyr472Ter Single submitter Plasma factor XI deficiency
- p.Tyr614Asp Single submitter congenital factor XI deficiency
- p.Val540fs Single submitter Plasma factor XI deficiency
- p.Val611Met Single submitter congenital factor XI deficiency ⚠
- c.1028+1G>A No assertion criteria congenital factor XI deficiency
- c.1305-1G>A No assertion criteria congenital factor XI deficiency
- c.865+1G>C No assertion criteria congenital factor XI deficiency
- p.Asn491fs No assertion criteria congenital factor XI deficiency
- p.Gln251Ter No assertion criteria congenital factor XI deficiency
- p.Glu597Ter No assertion criteria congenital factor XI deficiency
- p.His9fs No assertion criteria congenital factor XI deficiency
- p.Ile559fs No assertion criteria congenital factor XI deficiency
- p.Met1Lys No assertion criteria congenital factor XI deficiency
- p.Phe460fs No assertion criteria congenital factor XI deficiency
- p.Ser575Ter No assertion criteria congenital factor XI deficiency
- p.Thr322fs No assertion criteria congenital factor XI deficiency
- p.Thr331fs No assertion criteria congenital factor XI deficiency
- p.Thr411fs No assertion criteria congenital factor XI deficiency
- p.Thr493Ile No assertion criteria congenital factor XI deficiency ⚠
- p.Thr541fs No assertion criteria congenital factor XI deficiency
- p.Tyr98fs No assertion criteria congenital factor XI deficiency
- p.Val325Phe No assertion criteria congenital factor XI deficiency ⚠
- p.Val444fs No assertion criteria congenital factor XI deficiency
Conflicting classifications of pathogenicity 45
- c.1028+9T>C Single submitter congenital factor XI deficiency
- c.1029-11T>C Single submitter congenital factor XI deficiency
- c.1304+12G>A Single submitter congenital factor XI deficiency
- c.1305-14T>C Single submitter congenital factor XI deficiency
- c.1305-5C>T Single submitter congenital factor XI deficiency
- c.1305-9G>T Single submitter congenital factor XI deficiency
- c.1481-9T>A Single submitter congenital factor XI deficiency
- c.218+4A>G Single submitter congenital factor XI deficiency
- c.219-11T>A Single submitter congenital factor XI deficiency
- c.56-6T>C Single submitter congenital factor XI deficiency
- c.595+11A>G Single submitter Plasma factor XI deficiency
- c.596-6G>A Single submitter congenital factor XI deficiency
- p.Ala430Ser Single submitter congenital factor XI deficiency ⚠
- p.Arg162Cys Single submitter congenital factor XI deficiency ⚠
- p.Arg268Cys Single submitter Plasma factor XI deficiency ⚠
- p.Arg268His Single submitter Plasma factor XI deficiency ⚠
- p.Arg443Cys Single submitter congenital factor XI deficiency ⚠
- p.Asn214= Single submitter congenital factor XI deficiency
- p.Asn340= Single submitter congenital factor XI deficiency
- p.Cys200Tyr Single submitter Plasma factor XI deficiency ⚠
- p.Cys339Ter Single submitter
- p.Gln244Arg Single submitter congenital factor XI deficiency ⚠
- p.Glu565Lys Single submitter Plasma factor XI deficiency ⚠
- p.Glu613Lys Single submitter congenital factor XI deficiency ⚠
- p.Glu620Gln Single submitter congenital factor XI deficiency ⚠
- p.Gly122Asp Single submitter Plasma factor XI deficiency ⚠
- p.Gly368Ala Single submitter congenital factor XI deficiency ⚠
- p.His145Arg Single submitter congenital factor XI deficiency ⚠
- p.His232= Single submitter congenital factor XI deficiency
- p.Ile287= Single submitter congenital factor XI deficiency
- p.Ile618Ser Single submitter Plasma factor XI deficiency ⚠
- p.Lys270Ile Single submitter Plasma factor XI deficiency ⚠
- p.Pro400= Single submitter congenital factor XI deficiency
- p.Pro66Ser Single submitter Inborn genetic diseases ⚠
- p.Ser266Asn Single submitter ⚠
- p.Ser477= Single submitter congenital factor XI deficiency
- p.Thr141Met Single submitter Plasma factor XI deficiency ⚠
- p.Thr51Ile Single submitter congenital factor XI deficiency ⚠
- p.Thr593Ala Single submitter congenital factor XI deficiency ⚠
- p.Thr593Ser Single submitter ⚠
- p.Tyr115= Single submitter congenital factor XI deficiency
- p.Tyr472= Single submitter congenital factor XI deficiency
- p.Tyr608His Single submitter congenital factor XI deficiency ⚠
- p.Tyr614= Single submitter congenital factor XI deficiency
- c.1135+5G>A No assertion criteria F11-related disorder
Benign 54
- c.1481-188C>T Multiple submitters
- c.1481-215C>T Multiple submitters
- c.1577-148A>T Multiple submitters
- c.326-120C>T Multiple submitters
- c.485+122T>A Multiple submitters
- c.485+181T>C Multiple submitters
- c.486-181C>T Multiple submitters
- c.56-85T>C Multiple submitters
- c.-1-138A>C Multiple submitters congenital factor XI deficiency
- c.-316C>G Multiple submitters congenital factor XI deficiency
- c.*265A>G Multiple submitters congenital factor XI deficiency
- c.*296G>C Multiple submitters congenital factor XI deficiency
- c.*322G>A Multiple submitters congenital factor XI deficiency
- c.*479A>T Multiple submitters congenital factor XI deficiency
- c.*852G>A Multiple submitters congenital factor XI deficiency
- p.Asp143= Multiple submitters congenital factor XI deficiency
- p.Asp569= Multiple submitters congenital factor XI deficiency
- p.Glu613= Multiple submitters congenital factor XI deficiency
- p.Gly397= Multiple submitters congenital factor XI deficiency
- p.Lys180Arg Multiple submitters congenital factor XI deficiency
- p.Thr267= Multiple submitters congenital factor XI deficiency
- c.1135+295_1135+296del Single submitter
- c.1135+296del Single submitter
- c.1136-213A>G Single submitter
- c.1136-244C>G Single submitter
- c.1136-309A>G Single submitter
- c.1577-11del Single submitter
- c.1577-11dup Single submitter
- c.1577-297T>C Single submitter
- c.1577-92AT[10] Single submitter
- c.1577-92AT[11] Single submitter
- c.1577-92AT[8] Single submitter
- c.1577-93_1577-92dup Single submitter
- c.1716+168G>A Single submitter
- c.1716+248G>A Single submitter
- c.1716+250G>A Single submitter
- c.218+20C>T Single submitter
- c.219-11dup Single submitter
- c.219-4dup Single submitter
- c.486-280dup Single submitter
- c.56-282T>C Single submitter
- c.755+213_755+214del Single submitter
- c.755+214del Single submitter
- c.755+216A>G Single submitter
- c.756-165A>G Single submitter
- c.756-323C>G Single submitter
- c.-1-148_-1-147insTA Single submitter
- c.-1-196T>G Single submitter
- c.-1-229T>C Single submitter
- c.*175C>T Single submitter congenital factor XI deficiency
- c.*186C>T Single submitter congenital factor XI deficiency
- c.*885G>A Single submitter congenital factor XI deficiency
- p.Gln533= Single submitter
- p.Pro221= Single submitter
Benign/Likely benign 7
- c.1481-34G>T Multiple submitters congenital factor XI deficiency
- c.1576+51C>A Multiple submitters congenital factor XI deficiency
- c.1717-48A>G Multiple submitters congenital factor XI deficiency
- c.-54G>A Multiple submitters congenital factor XI deficiency
- c.*1A>G Multiple submitters congenital factor XI deficiency
- p.Cys339Phe Multiple submitters congenital factor XI deficiency
- p.Tyr151= Multiple submitters congenital factor XI deficiency
Likely benign 226
- c.486-10T>A Multiple submitters
- c.595+7A>G Multiple submitters
- p.Ala561= Multiple submitters congenital factor XI deficiency
- p.His361= Multiple submitters
- p.Val509Ile Multiple submitters
- p.Val615Met Multiple submitters congenital factor XI deficiency
- c.1028+8A>C Single submitter
- c.1028+9T>G Single submitter
- c.1029-19G>A Single submitter
- c.1029-20C>A Single submitter
- c.1029-20C>T Single submitter
- c.1136-10T>C Single submitter
- c.1136-12C>G Single submitter
- c.1136-13G>A Single submitter
- c.1136-14T>C Single submitter
- c.1304+10A>G Single submitter
- c.1304+11C>A Single submitter
- c.1304+11C>T Single submitter
- c.1304+8C>A Single submitter
- c.1304+9C>T Single submitter
- c.1305-10T>G Single submitter
- c.1305-16G>A Single submitter
- c.1480+11T>C Single submitter
- c.1480+18C>T Single submitter
- c.1480+19G>A Single submitter
- c.1481-14T>C Single submitter
- c.1481-15_1481-14insCC Single submitter
- c.1481-15del Single submitter
- c.1481-16del Single submitter
- c.1481-17C>T Single submitter
- c.1481-20C>G Single submitter
- c.1481-8A>T Single submitter
- c.1576+11T>C Single submitter
- c.1576+19T>C Single submitter
- c.1576+9G>A Single submitter
- c.1577-11A>T Single submitter
- c.1577-18C>G Single submitter
- c.1577-9T>G Single submitter
- c.1716+12T>C Single submitter
- c.1716+12T>G Single submitter
- c.1716+6dup Single submitter
- c.1716+7G>A Single submitter
- c.1716+7G>T Single submitter
- c.1716+8_1716+9del Single submitter
- c.1717-15C>G Single submitter
- c.1717-16T>G Single submitter
- c.1717-17G>A Single submitter
- c.1717-17G>C Single submitter
- c.1717-4C>T Single submitter
- c.1717-7G>A Single submitter
- c.1717-7G>T Single submitter
- c.1717-8C>T Single submitter
- c.218+11A>T Single submitter
- c.218+12del Single submitter
- c.218+12T>C Single submitter
- c.218+18T>C Single submitter
- c.218+19A>G Single submitter
- c.218+7G>A Single submitter
- c.218+8C>T Single submitter
- c.219-10A>T Single submitter
- c.219-19G>A Single submitter
- c.219-20T>C Single submitter
- c.325+10G>A Single submitter
- c.325+7T>A Single submitter
- c.325+7T>C Single submitter
- c.326-14G>C Single submitter
- c.326-20T>C Single submitter
- c.326-7T>C Single submitter
- c.485+18C>T Single submitter
- c.485+19A>T Single submitter
- c.485+7_485+10del Single submitter
- c.485+7G>A Single submitter
- c.485+9G>A Single submitter
- c.486-20T>G Single submitter
- c.486-8T>G Single submitter
- c.55+16T>G Single submitter
- c.56-9A>G Single submitter
- c.595+10G>A Single submitter
- c.595+12C>T Single submitter
- c.596-10C>T Single submitter
- c.596-19T>C Single submitter
- c.596-4G>A Single submitter
- c.596-4G>T Single submitter
- c.596-5C>T Single submitter
- c.596-7C>T Single submitter
- c.596-9G>A Single submitter
- c.755+10T>G Single submitter
- c.755+8G>T Single submitter
- c.755+9T>C Single submitter
- c.756-11G>T Single submitter
- c.756-17C>A Single submitter
- c.756-17C>T Single submitter
- c.756-5G>A Single submitter
- c.865+11_865+12del Single submitter
- c.865+14T>C Single submitter
- c.865+7T>C Single submitter
- c.865+8G>T Single submitter
- c.866-10T>C Single submitter
- c.866-6G>C Single submitter
- c.866-8C>T Single submitter
- c.866-9G>A Single submitter
- c.*884C>T Single submitter congenital factor XI deficiency
- p.Ala152= Single submitter
- p.Ala310= Single submitter
- p.Ala316= Single submitter
- p.Ala324= Single submitter
- p.Ala393= Single submitter
- p.Ala429= Single submitter
- p.Ala535= Single submitter
- p.Ala570= Single submitter
- p.Ala63= Single submitter
- p.Ala94= Single submitter
- p.Arg202= Single submitter
- p.Arg372= Single submitter
- p.Arg396= Single submitter
- p.Arg413= Single submitter
- p.Arg507= Single submitter
- p.Arg55= Single submitter
- p.Arg604= Single submitter
- p.Arg91Met Single submitter Inborn genetic diseases ⚠
- p.Asn207= Single submitter
- p.Asn353= Single submitter
- p.Asn542= Single submitter
- p.Asn610= Single submitter
- p.Asn90= Single submitter
- p.Asp117= Single submitter
- p.Asp300= Single submitter
- p.Asp307= Single submitter
- p.Asp457= Single submitter
- p.Asp506= Single submitter
- p.Asp526Gly Single submitter Inborn genetic diseases
- p.Cys110= Single submitter
- p.Cys317= Single submitter
- p.Gln155= Single submitter
- p.Gln328= Single submitter
- p.Gln336= Single submitter
- p.Gln402= Single submitter
- p.Gln471= Single submitter
- p.Glu379= Single submitter
- p.Glu398= Single submitter
- p.Glu544= Single submitter
- p.Glu68= Single submitter
- p.Gly122= Single submitter
- p.Gly235= Single submitter
- p.Gly32= Single submitter
- p.Gly33= Single submitter
- p.Gly354= Single submitter
- p.Gly365= Single submitter
- p.Gly418= Single submitter
- p.Gly520= Single submitter
- p.Gly577= Single submitter
- p.Gly596= Single submitter
- p.Gly97= Single submitter
- p.His145= Single submitter
- p.His147= Single submitter
- p.His169= Single submitter
- p.His314= Single submitter
- p.His469= Single submitter
- p.His53= Single submitter
- p.Ile2= Single submitter
- p.Ile229= Single submitter
- p.Ile308= Single submitter
- p.Ile35= Single submitter
- p.Ile388= Single submitter
- p.Ile420= Single submitter
- p.Ile592= Single submitter
- p.Leu166= Single submitter
- p.Leu181= Single submitter
- p.Leu190= Single submitter
- p.Leu280= Single submitter
- p.Leu415= Single submitter
- p.Leu442= Single submitter
- p.Leu483= Single submitter
- p.Leu579= Single submitter
- p.Leu589= Single submitter
- p.Lys121= Single submitter
- p.Lys248= Single submitter
- p.Lys44= Single submitter
- p.Lys568= Single submitter
- p.Phe224= Single submitter
- p.Phe39= Single submitter
- p.Phe433= Single submitter
- p.Pro234= Single submitter
- p.Pro386= Single submitter
- p.Pro54= Single submitter
- p.Ser104= Single submitter
- p.Ser15= Single submitter
- p.Ser217= Single submitter
- p.Ser352= Single submitter
- p.Ser419Thr Single submitter ⚠
- p.Ser42= Single submitter
- p.Ser575= Single submitter
- p.Ser575= Single submitter
- p.Ser594= Single submitter
- p.Ser67= Single submitter
- p.Ter626= Single submitter
- p.Thr141= Single submitter
- p.Thr150= Single submitter
- p.Thr153= Single submitter
- p.Thr172= Single submitter
- p.Thr179= Single submitter
- p.Thr240= Single submitter
- p.Thr299= Single submitter
- p.Thr322= Single submitter
- p.Thr37= Single submitter
- p.Thr404= Single submitter
- p.Thr408= Single submitter
- p.Thr555= Single submitter
- p.Thr593= Single submitter
- p.Thr60= Single submitter
- p.Thr62= Single submitter
- p.Thr83= Single submitter
- p.Tyr347= Single submitter
- p.Tyr369= Single submitter
- p.Val129= Single submitter
- p.Val144= Single submitter
- p.Val144Ile Single submitter Inborn genetic diseases
- p.Val184= Single submitter
- p.Val218= Single submitter
- p.Val38= Single submitter
- p.Val444= Single submitter
- p.Val49= Single submitter
- p.Val607= Single submitter
- p.Val611= Single submitter
- c.1304+25_1304+28del No assertion criteria congenital factor XI deficiency
- p.Ser293= No assertion criteria Plasma factor XI deficiency
Uncertain significance 211
- c.325+5G>T Multiple submitters congenital factor XI deficiency
- c.*551A>T Multiple submitters congenital factor XI deficiency
- p.Asp69Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu261Asp Multiple submitters Abnormal bleeding ⚠
- p.Glu543Lys Multiple submitters congenital factor XI deficiency ⚠
- p.Gly32Arg Multiple submitters ⚠
- p.Ile537Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu350Pro Multiple submitters congenital factor XI deficiency ⚠
- p.Thr407Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr125Cys Multiple submitters congenital factor XI deficiency ⚠
- c.1135+4A>C Single submitter congenital factor XI deficiency
- c.1305-10T>A Single submitter
- c.1480+4C>T Single submitter congenital factor XI deficiency
- c.219-8A>G Single submitter
- c.-164G>A Single submitter congenital factor XI deficiency
- c.-183T>C Single submitter congenital factor XI deficiency
- c.-233C>T Single submitter congenital factor XI deficiency
- c.-2G>C Single submitter congenital factor XI deficiency
- c.-300C>T Single submitter congenital factor XI deficiency
- c.-326C>G Single submitter congenital factor XI deficiency
- c.-57G>A Single submitter congenital factor XI deficiency
- c.-70G>A Single submitter congenital factor XI deficiency
- c.*1033A>G Single submitter congenital factor XI deficiency
- c.*1039G>A Single submitter congenital factor XI deficiency
- c.*174C>T Single submitter congenital factor XI deficiency
- c.*194TTTG[1] Single submitter
- c.*262A>G Single submitter congenital factor XI deficiency
- c.*346A>G Single submitter congenital factor XI deficiency
- c.*404A>G Single submitter congenital factor XI deficiency
- c.*445C>T Single submitter congenital factor XI deficiency
- c.*448A>G Single submitter congenital factor XI deficiency
- c.*576G>A Single submitter congenital factor XI deficiency
- c.*584A>T Single submitter congenital factor XI deficiency
- c.*609C>A Single submitter congenital factor XI deficiency
- c.*636A>G Single submitter congenital factor XI deficiency
- c.*728T>C Single submitter congenital factor XI deficiency
- c.*763T>A Single submitter congenital factor XI deficiency
- c.*817A>G Single submitter congenital factor XI deficiency
- c.*822A>G Single submitter congenital factor XI deficiency
- c.*846T>C Single submitter congenital factor XI deficiency
- c.*902G>A Single submitter congenital factor XI deficiency
- c.*928G>A Single submitter congenital factor XI deficiency
- c.*933C>G Single submitter congenital factor XI deficiency
- c.*952G>A Single submitter congenital factor XI deficiency
- p.Ala194Val Single submitter ⚠
- p.Ala199_Arg202delinsValPro Single submitter
- p.Ala310Asp Single submitter congenital factor XI deficiency ⚠
- p.Ala316Gly Single submitter Inborn genetic diseases ⚠
- p.Ala337Thr Single submitter Inborn genetic diseases ⚠
- p.Ala430Val Single submitter congenital factor XI deficiency ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala570Thr Single submitter Inborn genetic diseases ⚠
- p.Arg154Met Single submitter Inborn genetic diseases ⚠
- p.Arg162His Single submitter ⚠
- p.Arg228Gln Single submitter congenital factor XI deficiency ⚠
- p.Arg252Ser Single submitter congenital factor XI deficiency ⚠
- p.Arg284Ser Single submitter Inborn genetic diseases ⚠
- p.Arg443His Single submitter congenital factor XI deficiency ⚠
- p.Arg497Gln Single submitter Inborn genetic diseases ⚠
- p.Arg525= Single submitter
- p.Arg72Pro Single submitter ⚠
- p.Asn323Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn530Ser Single submitter Inborn genetic diseases ⚠
- p.Asn542Ser Single submitter Inborn genetic diseases ⚠
- p.Asn584Ile Single submitter congenital factor XI deficiency ⚠
- p.Asn584Ser Single submitter Inborn genetic diseases ⚠
- p.Asn90Ile Single submitter Inborn genetic diseases ⚠
- p.Asp119Glu Single submitter ⚠
- p.Asp212Asn Single submitter congenital factor XI deficiency ⚠
- p.Asp222Glu Single submitter ⚠
- p.Asp307Val Single submitter Inborn genetic diseases ⚠
- p.Asp34His Single submitter ⚠
- p.Cys283Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys380Arg Single submitter congenital factor XI deficiency ⚠
- p.Cys514Phe Single submitter ⚠
- p.Cys545Arg Single submitter congenital factor XI deficiency ⚠
- p.Gln623fs Single submitter
- p.Gln6Arg Single submitter ⚠
- p.Glu138Gln Single submitter Inborn genetic diseases ⚠
- p.Glu245Gly Single submitter ⚠
- p.Glu245Val Single submitter Inborn genetic diseases ⚠
- p.Glu379Asp Single submitter congenital factor XI deficiency ⚠
- p.Glu398Lys Single submitter congenital factor XI deficiency ⚠
- p.Glu543Gly Single submitter ⚠
- p.Glu585Gly Single submitter ⚠
- p.Gly187Glu Single submitter Inborn genetic diseases ⚠
- p.Gly263Val Single submitter Inborn genetic diseases ⚠
- p.Gly344Val Single submitter Inborn genetic diseases ⚠
- p.Gly365Ala Single submitter Inborn genetic diseases ⚠
- p.Gly365Ser Single submitter Inborn genetic diseases ⚠
- p.Gly551Glu Single submitter Inborn genetic diseases ⚠
- p.Gly567Arg Single submitter congenital factor XI deficiency ⚠
- p.Gly576Glu Single submitter ⚠
- p.Gly591Ala Single submitter congenital factor XI deficiency ⚠
- p.His361Tyr Single submitter Inborn genetic diseases ⚠
- p.His53Gln Single submitter ⚠
- p.Ile420Met Single submitter Inborn genetic diseases ⚠
- p.Ile421Thr Single submitter congenital factor XI deficiency ⚠
- p.Ile454Val Single submitter ⚠
- p.Ile510Val Single submitter Inborn genetic diseases ⚠
- p.Ile618Val Single submitter congenital factor XI deficiency ⚠
- p.Leu167= Single submitter congenital factor XI deficiency
- p.Leu264Trp Single submitter congenital factor XI deficiency ⚠
- p.Leu350Ile Single submitter ⚠
- p.Leu360Ile Single submitter Inborn genetic diseases ⚠
- p.Leu360Val Single submitter Inborn genetic diseases ⚠
- p.Leu442Phe Single submitter ⚠
- p.Leu442Ser Single submitter ⚠
- p.Leu483Phe Single submitter ⚠
- p.Leu486Val Single submitter Inborn genetic diseases ⚠
- p.Lys112Glu Single submitter Inborn genetic diseases ⚠
- p.Lys473Asn Single submitter Inborn genetic diseases ⚠
- p.Lys553Gln Single submitter Inborn genetic diseases ⚠
- p.Met219Thr Single submitter Inborn genetic diseases ⚠
- p.Phe156Ser Single submitter Inborn genetic diseases ⚠
- p.Phe156Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe30Ser Single submitter congenital factor XI deficiency ⚠
- p.Pro247Thr Single submitter Inborn genetic diseases ⚠
- p.Pro400Thr Single submitter ⚠
- p.Pro410Ser Single submitter Inborn genetic diseases ⚠
- p.Pro538His Single submitter ⚠
- p.Ser104Leu Single submitter Inborn genetic diseases ⚠
- p.Ser17Cys Single submitter Inborn genetic diseases ⚠
- p.Ser260Pro Single submitter ⚠
- p.Ser266Gly Single submitter Inborn genetic diseases ⚠
- p.Ser293Ala Single submitter Inborn genetic diseases ⚠
- p.Ser42Arg Single submitter ⚠
- p.Ser503Thr Single submitter Inborn genetic diseases ⚠
- p.Ser99Tyr Single submitter ⚠
- p.Thr150Ala Single submitter ⚠
- p.Thr170Ser Single submitter congenital factor XI deficiency ⚠
- p.Thr176Ile Single submitter ⚠
- p.Thr240Ile Single submitter congenital factor XI deficiency ⚠
- p.Thr299Ser Single submitter congenital factor XI deficiency ⚠
- p.Thr404Ala Single submitter Inborn genetic diseases ⚠
- p.Thr404Asn Single submitter congenital factor XI deficiency ⚠
- p.Thr40Ile Single submitter ⚠
- p.Thr493Arg Single submitter ⚠
- p.Thr609Asn Single submitter ⚠
- p.Thr60Ser Single submitter Inborn genetic diseases ⚠
- p.Trp425Cys Single submitter congenital factor XI deficiency ⚠
- p.Trp73Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr369Cys Single submitter congenital factor XI deficiency ⚠
- p.Tyr369Ser Single submitter ⚠
- p.Tyr445His Single submitter Inborn genetic diseases ⚠
- p.Tyr549Cys Single submitter congenital factor XI deficiency ⚠
- p.Val129Asp Single submitter Inborn genetic diseases ⚠
- p.Val218Ile Single submitter Inborn genetic diseases ⚠
- p.Val289Ala Single submitter Inborn genetic diseases ⚠
- p.Val38Phe Single submitter Inborn genetic diseases ⚠
- p.Val403Leu Single submitter F11-related disorder ⚠
- p.Val463Ala Single submitter Inborn genetic diseases ⚠
- p.Val463Asp Single submitter congenital factor XI deficiency ⚠
- p.Val490Ala Single submitter congenital factor XI deficiency ⚠
- p.Val77Ala Single submitter congenital factor XI deficiency ⚠
- p.Val89Met Single submitter congenital factor XI deficiency ⚠
- c.1029-3C>G No assertion criteria Plasma factor XI deficiency
- c.1480+4C>A No assertion criteria Plasma factor XI deficiency
- c.1716+10del No assertion criteria Plasma factor XI deficiency
- c.55+6delinsGAG No assertion criteria congenital factor XI deficiency
- c.55+6T>G No assertion criteria congenital factor XI deficiency
- c.55+7A>G No assertion criteria Plasma factor XI deficiency
- c.-153T>G No assertion criteria congenital factor XI deficiency
- c.-459A>G No assertion criteria Plasma factor XI deficiency
- p.Ala199= No assertion criteria Plasma factor XI deficiency
- p.Ala199Pro No assertion criteria Plasma factor XI deficiency ⚠
- p.Ala337= No assertion criteria Plasma factor XI deficiency
- p.Ala535Val No assertion criteria Plasma factor XI deficiency ⚠
- p.Ala561Asp No assertion criteria Plasma factor XI deficiency ⚠
- p.Ala570Gly No assertion criteria Plasma factor XI deficiency ⚠
- p.Ala63Val No assertion criteria congenital factor XI deficiency ⚠
- p.Arg154Thr No assertion criteria Plasma factor XI deficiency ⚠
- p.Arg507Gly No assertion criteria Plasma factor XI deficiency ⚠
- p.Arg91Trp No assertion criteria Plasma factor XI deficiency ⚠
- p.Asp117Tyr No assertion criteria Plasma factor XI deficiency ⚠
- p.Asp119Gly No assertion criteria Plasma factor XI deficiency ⚠
- p.Asp506Gly No assertion criteria congenital factor XI deficiency ⚠
- p.Cys230= No assertion criteria Plasma factor XI deficiency
- p.Cys581Arg No assertion criteria congenital factor XI deficiency ⚠
- p.Gln23= No assertion criteria Plasma factor XI deficiency
- p.Gly187Val No assertion criteria congenital factor XI deficiency ⚠
- p.Gly227Asp No assertion criteria congenital factor XI deficiency ⚠
- p.Gly362Arg No assertion criteria congenital factor XI deficiency ⚠
- p.Gly391Arg No assertion criteria congenital factor XI deficiency ⚠
- p.His292Tyr No assertion criteria Plasma factor XI deficiency ⚠
- p.His361Arg No assertion criteria Plasma factor XI deficiency ⚠
- p.His9Arg No assertion criteria F11-related disorder ⚠
- p.Ile215Val No assertion criteria Plasma factor XI deficiency ⚠
- p.Ile554Val No assertion criteria Plasma factor XI deficiency ⚠
- p.Leu589Pro No assertion criteria Plasma factor XI deficiency ⚠
- p.Lys183Gln No assertion criteria Plasma factor XI deficiency ⚠
- p.Lys527Glu No assertion criteria Plasma factor XI deficiency ⚠
- p.Phe30Cys No assertion criteria Plasma factor XI deficiency ⚠
- p.Pro157Ser No assertion criteria Plasma factor XI deficiency ⚠
- p.Pro334Leu No assertion criteria Plasma factor XI deficiency ⚠
- p.Ser132Asn No assertion criteria Plasma factor XI deficiency ⚠
- p.Ser250= No assertion criteria Plasma factor XI deficiency
- p.Ser266Arg No assertion criteria Plasma factor XI deficiency ⚠
- p.Ser276= No assertion criteria Plasma factor XI deficiency
- p.Thr170Asn No assertion criteria Plasma factor XI deficiency ⚠
- p.Thr179Met No assertion criteria Plasma factor XI deficiency ⚠
- p.Thr231Pro No assertion criteria congenital factor XI deficiency ⚠
- p.Thr259Ile No assertion criteria Plasma factor XI deficiency ⚠
- p.Thr392Ala No assertion criteria Plasma factor XI deficiency ⚠
- p.Thr407Lys No assertion criteria congenital factor XI deficiency ⚠
- p.Thr428Ile No assertion criteria congenital factor XI deficiency ⚠
- p.Thr75Asn No assertion criteria Plasma factor XI deficiency ⚠
- p.Trp515Cys No assertion criteria Plasma factor XI deficiency ⚠
- p.Tyr521His No assertion criteria Plasma factor XI deficiency ⚠
- p.Val612= No assertion criteria Plasma factor XI deficiency