FGB — 270 ClinVar variants
All ClinVar germline FGB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
10 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 11 Conflicting · 33 Benign · 7 Benign/Likely benign · 39 Likely benign · 160 Uncertain significance
Full FGB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FGB p.Ala98Thr
Likely pathogenic
Single submitter
congenital afibrinogenemia
- FGB p.Thr378Ile Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FGB p.Asn190Ser
Conflicting
Single submitter
familial dysfibrinogenemia
-
FGB p.Asp128Asn
Conflicting
Single submitter
Inborn genetic diseases
-
FGB p.Asp311Glu
Conflicting
Single submitter
Inborn genetic diseases
-
FGB p.Lys178Asn
Conflicting
Single submitter
congenital afibrinogenemia
-
FGB p.Pro100Ser
Conflicting
Single submitter
congenital afibrinogenemia
-
FGB p.Ser67Thr
Conflicting
Single submitter
congenital afibrinogenemia
-
FGB p.Thr228Ala
Conflicting
Single submitter
familial dysfibrinogenemia
- FGB p.Tyr375Cys Conflicting Single submitter
Predictors lean, ClinVar uncertain 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FGB p.Arg199Cys
Uncertain significance
Multiple submitters
FGB-related disorder
-
FGB p.Arg199His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Arg224His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Asp35Asn
Uncertain significance
Multiple submitters
congenital afibrinogenemia
-
FGB p.Gln159Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Gln82Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Glu250Gly
Uncertain significance
Multiple submitters
familial dysfibrinogenemia
-
FGB p.Leu12Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Leu27Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Lys2Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Lys84Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGB p.Met391Thr Uncertain significance Multiple submitters
-
FGB p.Pro337His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Pro420Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Pro57Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGB p.Pro64Leu Uncertain significance Multiple submitters
-
FGB p.Thr251Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Tyr147Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGB p.Tyr266Cys Uncertain significance Multiple submitters
-
FGB p.Ala457Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Ala92Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Arg196Cys
Uncertain significance
Single submitter
Hypofibrinogenemia
- FGB p.Arg224Cys Uncertain significance Single submitter
-
FGB p.Arg285Cys
Uncertain significance
Single submitter
Deep venous thrombosis
-
FGB p.Arg53Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Arg72Gln Uncertain significance Single submitter
- FGB p.Asn170His Uncertain significance Single submitter
-
FGB p.Asn194His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asn194Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asn309Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asn412Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asn469Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asp153Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asp260Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asp271Tyr
Uncertain significance
Single submitter
familial dysfibrinogenemia
-
FGB p.Asp409Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Asp50Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Gln111Arg
Uncertain significance
Single submitter
congenital afibrinogenemia
- FGB p.Gln118Glu Uncertain significance Single submitter
- FGB p.Gln139His Uncertain significance Single submitter
- FGB p.Gln258Pro Uncertain significance Single submitter
-
FGB p.Gln31Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Glu185Asp Uncertain significance Single submitter
-
FGB p.Glu38Asp
Uncertain significance
Single submitter
FGB-related disorder
- FGB p.Gly288Ser Uncertain significance Single submitter
- FGB p.Gly358Arg Uncertain significance Single submitter
- FGB p.Gly414Ser Uncertain significance Single submitter
-
FGB p.Gly431Val
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.His400Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Ile244Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Ile257Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Ile342Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Leu195Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Leu195Val Uncertain significance Single submitter
- FGB p.Leu59Gln Uncertain significance Single submitter
-
FGB p.Lys160Gln
Uncertain significance
Single submitter
Abnormal bleeding
- FGB p.Lys160Glu Uncertain significance Single submitter
-
FGB p.Lys353Arg
Uncertain significance
Single submitter
Abnormal bleeding
- FGB p.Lys52Arg Uncertain significance Single submitter
-
FGB p.Met148Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Met220Thr
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Met254Ile
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Met272Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Met477Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Met4Leu Uncertain significance Single submitter
-
FGB p.Phe405Cys
Uncertain significance
Single submitter
familial dysfibrinogenemia
- FGB p.Pro337Ser Uncertain significance Single submitter
- FGB p.Ser42Thr Uncertain significance Single submitter
-
FGB p.Ser6Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Thr140Asn
Uncertain significance
Single submitter
familial dysfibrinogenemia
- FGB p.Thr186Ser Uncertain significance Single submitter
-
FGB p.Thr228Ile
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Thr417Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Trp296Arg
Uncertain significance
Single submitter
FGB-related disorder
-
FGB p.Val104Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Val162Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Val169Asp
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Val187Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Val33Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Val85Ala
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Gly312Glu
Uncertain significance
No assertion criteria
FGB-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
-
FGB p.Arg395Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FGB p.Arg44Cys
Pathogenic/Likely pathogenic
Multiple submitters
familial dysfibrinogenemia
-
FGB p.Gln219Arg
Uncertain significance
Multiple submitters
familial dysfibrinogenemia
-
FGB p.Gly449Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FGB p.Leu154Pro Uncertain significance Multiple submitters
- FGB p.Pro319Leu Uncertain significance Multiple submitters
- FGB p.Asp91Val Uncertain significance Single submitter
-
FGB p.Cys231Arg
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Cys316Arg
Uncertain significance
Single submitter
congenital afibrinogenemia
-
FGB p.Cys95Tyr
Uncertain significance
Single submitter
familial dysfibrinogenemia
-
FGB p.Gly320Asp
Uncertain significance
Single submitter
Hypofibrinogenemia
- FGB p.Gly349Ala Uncertain significance Single submitter
-
FGB p.Gly444Ser
Uncertain significance
Single submitter
familial dysfibrinogenemia
-
FGB p.Gly449Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Ile282Phe
Uncertain significance
Single submitter
FGB-related disorder
- FGB p.Ile342Met Uncertain significance Single submitter
-
FGB p.Leu324Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Lys239Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Met397Ile Uncertain significance Single submitter
- FGB p.Met397Val Uncertain significance Single submitter
-
FGB p.Met468Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FGB p.Met480Lys Uncertain significance Single submitter
- FGB p.Met482Val Uncertain significance Single submitter
- FGB p.Pro226Arg Uncertain significance Single submitter
-
FGB p.Pro265Leu
Conflicting
Single submitter
familial dysfibrinogenemia
-
FGB p.Trp415Leu
Uncertain significance
Single submitter
cerebral cavernous malformation
-
FGB p.Trp454Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Tyr447Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
FGB p.Cys227Arg
Pathogenic
No assertion criteria
familial dysfibrinogenemia
-
FGB p.Leu202Gln
Pathogenic
No assertion criteria
congenital afibrinogenemia
All FGB variants
Pathogenic 10
- p.Gly45fs Multiple submitters
- p.Gln258Ter Single submitter
- p.Lys458Ter Single submitter congenital afibrinogenemia
- c.1244+1G>T No assertion criteria congenital afibrinogenemia
- c.958+13C>T No assertion criteria congenital afibrinogenemia
- p.Cys227Arg No assertion criteria familial dysfibrinogenemia ⚠
- p.Gly325Ala No assertion criteria congenital afibrinogenemia
- p.Gly430Asp No assertion criteria congenital afibrinogenemia
- p.Leu202Gln No assertion criteria congenital afibrinogenemia ⚠
- p.Leu383Arg No assertion criteria congenital afibrinogenemia
Pathogenic/Likely pathogenic 2
- p.Arg44Cys Multiple submitters familial dysfibrinogenemia ⚠
- p.Arg47Ter Multiple submitters FGB-related disorder
Likely pathogenic 8
- p.Asn167_Glu171del Multiple submitters familial dysfibrinogenemia
- c.490+1G>C Single submitter familial dysfibrinogenemia
- p.Ala98Thr Single submitter congenital afibrinogenemia ⚠
- p.Arg421fs Single submitter Bleeding and platelet disorders
- p.Gln423fs Single submitter
- p.Lys313fs Single submitter
- p.Thr378Ile Single submitter ⚠
- p.Pro63fs No assertion criteria FGB-related disorder
Conflicting classifications of pathogenicity 11
- c.115-12C>T Single submitter congenital afibrinogenemia
- c.1244+7G>A Single submitter congenital afibrinogenemia
- p.Asn190Ser Single submitter familial dysfibrinogenemia ⚠
- p.Asp128Asn Single submitter Inborn genetic diseases ⚠
- p.Asp311Glu Single submitter Inborn genetic diseases ⚠
- p.Lys178Asn Single submitter congenital afibrinogenemia ⚠
- p.Pro100Ser Single submitter congenital afibrinogenemia ⚠
- p.Pro265Leu Single submitter familial dysfibrinogenemia ⚠
- p.Ser67Thr Single submitter congenital afibrinogenemia ⚠
- p.Thr228Ala Single submitter familial dysfibrinogenemia ⚠
- p.Tyr375Cys Single submitter ⚠
Benign 33
- c.115-314T>C Multiple submitters
- c.115-490T>A Multiple submitters
- c.115-579C>T Multiple submitters
- c.306+70G>C Multiple submitters
- c.490+160C>T Multiple submitters
- c.718+113A>G Multiple submitters
- c.718+123A>G Multiple submitters
- c.*422A>C Multiple submitters congenital afibrinogenemia
- c.*443G>A Multiple submitters congenital afibrinogenemia
- c.*447T>C Multiple submitters congenital afibrinogenemia
- p.Cys106= Multiple submitters congenital afibrinogenemia
- p.His97= Multiple submitters congenital afibrinogenemia
- p.Ser189= Multiple submitters congenital afibrinogenemia
- p.Tyr375= Multiple submitters congenital afibrinogenemia
- p.Val281= Multiple submitters congenital afibrinogenemia
- c.114+227G>A Single submitter
- c.1244+206G>A Single submitter
- c.306+15_306+16insAG Single submitter
- c.306+16T>A Single submitter
- c.490+248A>T Single submitter
- c.832+201_832+202dup Single submitter
- c.832+202dup Single submitter
- c.832+218_832+221del Single submitter
- c.832+221del Single submitter
- c.*1070G>C Single submitter congenital afibrinogenemia
- c.*1369G>A Single submitter congenital afibrinogenemia
- c.*1517T>C Single submitter congenital afibrinogenemia
- c.*1550C>T Single submitter congenital afibrinogenemia
- c.*1617A>T Single submitter congenital afibrinogenemia
- c.*1752G>T Single submitter congenital afibrinogenemia
- c.*373G>A Single submitter congenital afibrinogenemia
- c.*619T>C Single submitter congenital afibrinogenemia
- c.*918C>G Single submitter congenital afibrinogenemia
Benign/Likely benign 7
- c.114+11del Multiple submitters
- c.832+11G>A Multiple submitters
- c.959-13_959-10del Multiple submitters congenital afibrinogenemia
- p.Arg478Lys Multiple submitters congenital afibrinogenemia
- p.Asn443= Multiple submitters
- p.Asp413= Multiple submitters congenital afibrinogenemia
- p.Ser371= Multiple submitters congenital afibrinogenemia
Likely benign 39
- c.832+10C>T Multiple submitters
- p.Arg72= Multiple submitters
- p.Asn170Lys Multiple submitters congenital afibrinogenemia
- p.Ile123Val Multiple submitters
- p.Leu154= Multiple submitters
- c.115-17T>C Single submitter
- c.115-608G>A Single submitter
- c.1245-14A>T Single submitter
- c.306+10C>G Single submitter
- c.306+14T>C Single submitter
- c.306+16delinsAGA Single submitter
- c.307-16T>C Single submitter
- c.307-17A>G Single submitter
- c.490+18T>A Single submitter
- c.490+20C>T Single submitter
- c.958+12G>A Single submitter
- c.*10C>T Single submitter
- p.Arg376= Single submitter
- p.Asn276= Single submitter
- p.Asn34= Single submitter
- p.Asn34Asp Single submitter Inborn genetic diseases
- p.Asn381= Single submitter
- p.Asn401= Single submitter
- p.Asp287= Single submitter
- p.Glu114= Single submitter Inborn genetic diseases
- p.Glu171= Single submitter
- p.Gly293= Single submitter
- p.Gly402Ser Single submitter Inborn genetic diseases
- p.His10Gln Single submitter Inborn genetic diseases
- p.Leu12= Single submitter
- p.Leu23= Single submitter
- p.Pro48= Single submitter
- p.Thr193= Single submitter
- p.Thr407= Single submitter
- p.Tyr452= Single submitter
- p.Tyr475= Single submitter
- p.Val28= Single submitter
- p.Asp350= No assertion criteria FGB-related disorder
- p.Ser142= No assertion criteria FGB-related disorder
Uncertain significance 160
- p.Arg199Cys Multiple submitters FGB-related disorder ⚠
- p.Arg199His Multiple submitters Inborn genetic diseases ⚠
- p.Arg224His Multiple submitters Inborn genetic diseases ⚠
- p.Arg395Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg47Gln Multiple submitters Inborn genetic diseases
- p.Arg74Leu Multiple submitters familial dysfibrinogenemia
- p.Asp35Asn Multiple submitters congenital afibrinogenemia ⚠
- p.Gln159Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln219Arg Multiple submitters familial dysfibrinogenemia ⚠
- p.Gln82Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu250Gly Multiple submitters familial dysfibrinogenemia ⚠
- p.Gly392Ala Multiple submitters Inborn genetic diseases
- p.Gly449Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu12Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu154Pro Multiple submitters ⚠
- p.Leu27Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys2Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys84Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met391Thr Multiple submitters ⚠
- p.Pro319Leu Multiple submitters ⚠
- p.Pro337His Multiple submitters Inborn genetic diseases ⚠
- p.Pro420Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro57Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro64Leu Multiple submitters ⚠
- p.Thr251Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr147Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr266Cys Multiple submitters ⚠
- c.306+7_306+8delinsAA Single submitter
- c.719-9_719-2del Single submitter
- c.832+6C>A Single submitter
- c.958+1G>A Single submitter
- c.958+5C>T Single submitter
- c.958+6G>A Single submitter
- c.-6G>A Single submitter
- c.*1019G>T Single submitter congenital afibrinogenemia
- c.*1105A>G Single submitter congenital afibrinogenemia
- c.*1204T>C Single submitter congenital afibrinogenemia
- c.*1252A>C Single submitter congenital afibrinogenemia
- c.*1372T>A Single submitter congenital afibrinogenemia
- c.*1409C>A Single submitter congenital afibrinogenemia
- c.*1444C>A Single submitter congenital afibrinogenemia
- c.*1542T>C Single submitter congenital afibrinogenemia
- c.*15A>G Single submitter congenital afibrinogenemia
- c.*1639T>C Single submitter congenital afibrinogenemia
- c.*1671C>T Single submitter congenital afibrinogenemia
- c.*1687A>G Single submitter congenital afibrinogenemia
- c.*1738G>A Single submitter congenital afibrinogenemia
- c.*1771C>T Single submitter congenital afibrinogenemia
- c.*1867T>C Single submitter congenital afibrinogenemia
- c.*1892G>A Single submitter congenital afibrinogenemia
- c.*1998A>G Single submitter congenital afibrinogenemia
- c.*233G>T Single submitter congenital afibrinogenemia
- c.*277A>G Single submitter congenital afibrinogenemia
- c.*303C>T Single submitter congenital afibrinogenemia
- c.*304G>A Single submitter congenital afibrinogenemia
- c.*361A>T Single submitter congenital afibrinogenemia
- c.*363A>G Single submitter congenital afibrinogenemia
- c.*36A>G Single submitter congenital afibrinogenemia
- c.*427G>A Single submitter congenital afibrinogenemia
- c.*450T>A Single submitter congenital afibrinogenemia
- c.*464C>T Single submitter congenital afibrinogenemia
- c.*496G>A Single submitter congenital afibrinogenemia
- c.*526C>T Single submitter congenital afibrinogenemia
- c.*592G>A Single submitter congenital afibrinogenemia
- c.*624C>T Single submitter congenital afibrinogenemia
- c.*801A>G Single submitter congenital afibrinogenemia
- c.*846T>G Single submitter congenital afibrinogenemia
- p.Ala218_Gln219delinsGlu Single submitter
- p.Ala457Thr Single submitter Inborn genetic diseases ⚠
- p.Ala92Val Single submitter Inborn genetic diseases ⚠
- p.Arg196Cys Single submitter Hypofibrinogenemia ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg285Cys Single submitter Deep venous thrombosis ⚠
- p.Arg53Thr Single submitter Inborn genetic diseases ⚠
- p.Arg72Gln Single submitter ⚠
- p.Asn170His Single submitter ⚠
- p.Asn188= Single submitter congenital afibrinogenemia
- p.Asn194His Single submitter Inborn genetic diseases ⚠
- p.Asn194Ser Single submitter Inborn genetic diseases ⚠
- p.Asn309Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn394fs Single submitter
- p.Asn412Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn469Ser Single submitter Inborn genetic diseases ⚠
- p.Asp153Gly Single submitter Inborn genetic diseases ⚠
- p.Asp260Glu Single submitter Inborn genetic diseases ⚠
- p.Asp271Tyr Single submitter familial dysfibrinogenemia ⚠
- p.Asp409Asn Single submitter Inborn genetic diseases ⚠
- p.Asp50Asn Single submitter Inborn genetic diseases ⚠
- p.Asp91Val Single submitter ⚠
- p.Cys231Arg Single submitter congenital afibrinogenemia ⚠
- p.Cys316Arg Single submitter congenital afibrinogenemia ⚠
- p.Cys95Tyr Single submitter familial dysfibrinogenemia ⚠
- p.Gln111Arg Single submitter congenital afibrinogenemia ⚠
- p.Gln118Glu Single submitter ⚠
- p.Gln139His Single submitter ⚠
- p.Gln258Pro Single submitter ⚠
- p.Gln31Arg Single submitter Inborn genetic diseases ⚠
- p.Gln490Ter Single submitter
- p.Glu185Asp Single submitter ⚠
- p.Glu243Lys Single submitter
- p.Glu38Asp Single submitter FGB-related disorder ⚠
- p.Gly288Ser Single submitter ⚠
- p.Gly320Asp Single submitter Hypofibrinogenemia ⚠
- p.Gly349Ala Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly414Ser Single submitter ⚠
- p.Gly429Ser Single submitter Inborn genetic diseases
- p.Gly431= Single submitter
- p.Gly431Val Single submitter congenital afibrinogenemia ⚠
- p.Gly444Ser Single submitter familial dysfibrinogenemia ⚠
- p.Gly449Arg Single submitter Inborn genetic diseases ⚠
- p.Gly70= Single submitter congenital afibrinogenemia
- p.His400Pro Single submitter Inborn genetic diseases ⚠
- p.Ile244Thr Single submitter Inborn genetic diseases ⚠
- p.Ile257Val Single submitter Inborn genetic diseases ⚠
- p.Ile282Phe Single submitter FGB-related disorder ⚠
- p.Ile342Met Single submitter ⚠
- p.Ile342Thr Single submitter Inborn genetic diseases ⚠
- p.Leu105Phe Single submitter
- p.Leu195Ile Single submitter Inborn genetic diseases ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu324Ile Single submitter Inborn genetic diseases ⚠
- p.Leu59Gln Single submitter ⚠
- p.Lys160Gln Single submitter Abnormal bleeding ⚠
- p.Lys160Glu Single submitter ⚠
- p.Lys239Glu Single submitter Inborn genetic diseases ⚠
- p.Lys353Arg Single submitter Abnormal bleeding ⚠
- p.Lys52Arg Single submitter ⚠
- p.Met148Thr Single submitter Inborn genetic diseases ⚠
- p.Met220Thr Single submitter congenital afibrinogenemia ⚠
- p.Met254Ile Single submitter congenital afibrinogenemia ⚠
- p.Met272Thr Single submitter Inborn genetic diseases ⚠
- p.Met397Ile Single submitter ⚠
- p.Met397Val Single submitter ⚠
- p.Met468Val Single submitter Inborn genetic diseases ⚠
- p.Met477Thr Single submitter Inborn genetic diseases ⚠
- p.Met480Lys Single submitter ⚠
- p.Met482Val Single submitter ⚠
- p.Met4Leu Single submitter ⚠
- p.Phe405Cys Single submitter familial dysfibrinogenemia ⚠
- p.Pro226Arg Single submitter ⚠
- p.Pro337Ser Single submitter ⚠
- p.Ser230Cys Single submitter
- p.Ser42Thr Single submitter ⚠
- p.Ser6Pro Single submitter Inborn genetic diseases ⚠
- p.Thr140Asn Single submitter familial dysfibrinogenemia ⚠
- p.Thr186Ser Single submitter ⚠
- p.Thr228Ile Single submitter congenital afibrinogenemia ⚠
- p.Thr417Ala Single submitter Inborn genetic diseases ⚠
- p.Trp296Arg Single submitter FGB-related disorder ⚠
- p.Trp415Leu Single submitter cerebral cavernous malformation ⚠
- p.Trp454Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr447Phe Single submitter Inborn genetic diseases ⚠
- p.Val104Leu Single submitter Inborn genetic diseases ⚠
- p.Val162Leu Single submitter Inborn genetic diseases ⚠
- p.Val169Asp Single submitter congenital afibrinogenemia ⚠
- p.Val187Met Single submitter Inborn genetic diseases ⚠
- p.Val33Ile Single submitter Inborn genetic diseases ⚠
- p.Val85Ala Single submitter congenital afibrinogenemia ⚠
- p.Gly312Glu No assertion criteria FGB-related disorder ⚠