GP1BA — 358 ClinVar variants

All ClinVar germline GP1BA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

17 Pathogenic · 6 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 12 Conflicting · 10 Benign · 11 Benign/Likely benign · 62 Likely benign · 175 Uncertain significance

Full GP1BA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 4

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

GP1BA p.Gly249Ser Pathogenic/Likely pathogenic Multiple submitters
thrombocytopenia
GP1BA p.Met255Val Pathogenic/Likely pathogenic Multiple submitters
GP1BA-related disorders
GP1BA p.Asp265Tyr Pathogenic Single submitter
platelet-type von Willebrand disease
GP1BA p.Gly249Asp Pathogenic Single submitter
platelet-type von Willebrand disease

Predictors agree, ClinVar conflicts 11

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

GP1BA p.Arg635Cys Conflicting Single submitter
Inborn genetic diseases
GP1BA p.Asn57Lys Conflicting Single submitter
GP1BA-related disorders
GP1BA p.Cys33Ser Conflicting Single submitter
GP1BA p.Gln561His Conflicting Single submitter
Inborn genetic diseases
GP1BA p.Gly287Asp Conflicting Single submitter
Inborn genetic diseases
GP1BA p.Gly302Asp Conflicting Single submitter
GP1BA p.Leu155Pro Conflicting Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Leu194Phe Conflicting Single submitter
platelet-type von Willebrand disease
GP1BA p.Phe207Ser Conflicting Single submitter
GP1BA-related disorders
GP1BA p.Pro376Leu Conflicting Single submitter
Inborn genetic diseases
GP1BA p.Val485Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 127

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

GP1BA p.Arg137Cys Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Asn126Asp Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Cys264Arg Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Gly220Arg Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Leu193Pro Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Val262Gly Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Ala318Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Arg586Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Arg592Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Arg592Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Arg635His Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Asn103Ser Uncertain significance Multiple submitters
GP1BA p.Asn174Asp Uncertain significance Multiple submitters
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Asn221Ser Uncertain significance Multiple submitters
GP1BA p.Asp191Asn Uncertain significance Multiple submitters
GP1BA p.Asp238Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Asp285Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Asp518Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Gln587His Uncertain significance Multiple submitters
Bernard-Soulier syndrome
GP1BA p.Glu167Gln Uncertain significance Multiple submitters
GP1BA p.Leu580Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Phe270Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Pro393Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Pro424Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Pro450Leu Uncertain significance Multiple submitters
GP1BA p.Pro519Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Pro523Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Ser336Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Ser514Asn Uncertain significance Multiple submitters
GP1BA p.Ser565Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Val252Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Val259Met Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Val272Ile Uncertain significance Multiple submitters
GP1BA p.Val31Glu Uncertain significance Multiple submitters
GP1BA-related disorder
GP1BA p.Val588Ala Uncertain significance Multiple submitters
GP1BA p.Ala181Thr Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ala26Gly Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ala570Thr Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ala65Val Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Arg127Gln Uncertain significance Single submitter
platelet-type von Willebrand disease
GP1BA p.Arg306His Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Arg505His Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Arg586Gly Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Arg606His Uncertain significance Single submitter
GP1BA p.Arg618His Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Arg627Lys Uncertain significance Single submitter
Bernard-Soulier syndrome
GP1BA p.Arg646Lys Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Arg646Thr Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asn398Asp Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asn77Thr Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asp191His Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asp265Asn Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asp48Glu Uncertain significance Single submitter
GP1BA p.Asp638Asn Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Cys227Tyr Uncertain significance Single submitter
GP1BA p.Gln106Glu Uncertain significance Single submitter
GP1BA p.Gln576Glu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Gln75His Uncertain significance Single submitter
GP1BA p.Glu167Gly Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Glu21Ala Uncertain significance Single submitter
GP1BA p.Glu351Gln Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Glu351Val Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Glu394Asp Uncertain significance Single submitter
GP1BA p.Gly112Arg Uncertain significance Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Gly206Arg Uncertain significance Single submitter
GP1BA p.Gly532Ala Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Gly532Cys Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Gly566Asp Uncertain significance Single submitter
GP1BA p.Gly585Ala Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Gly620Val Uncertain significance Single submitter
GP1BA p.Gly634Ser Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ile203Thr Uncertain significance Single submitter
GP1BA p.Ile370Val Uncertain significance Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Ile549Asn Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Leu176Trp Uncertain significance Single submitter
nonarteritic anterior ischemic optic neuropathy, susceptibility to
GP1BA p.Leu184Gln Uncertain significance Single submitter
GP1BA p.Leu190His Uncertain significance Single submitter
GP1BA p.Leu212Phe Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Leu325Ile Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Leu365Phe Uncertain significance Single submitter
nonarteritic anterior ischemic optic neuropathy, susceptibility to
GP1BA p.Leu479Val Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Leu552Gln Uncertain significance Single submitter
Bernard-Soulier syndrome
GP1BA p.Leu58Phe Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Leu59Pro Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Leu67Arg Uncertain significance Single submitter
Macrothrombocytopenia
GP1BA p.Leu95Arg Uncertain significance Single submitter
GP1BA-related disorder
GP1BA p.Lys253Glu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Lys493Arg Uncertain significance Single submitter
GP1BA p.Lys503Asn Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Phe207Cys Uncertain significance Single submitter
GP1BA p.Phe478Val Uncertain significance Single submitter
GP1BA p.Pro11Leu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Pro376Ala Uncertain significance Single submitter
GP1BA p.Pro395Ser Uncertain significance Single submitter
platelet-type von Willebrand disease
GP1BA p.Pro530Leu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser107Arg Uncertain significance Single submitter
GP1BA p.Ser130Leu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser199Leu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser341Pro Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser378Phe Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser415Thr Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser470Arg Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser515Phe Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser601Leu Uncertain significance Single submitter
GP1BA p.Thr154Asn Uncertain significance Single submitter
GP1BA p.Thr321Ala Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr349Ser Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr354Arg Uncertain significance Single submitter
Bernard-Soulier syndrome
GP1BA p.Thr401Ile Uncertain significance Single submitter
GP1BA p.Thr460Ile Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr469Ile Uncertain significance Single submitter
GP1BA p.Thr50Ser Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr66Ile Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr91Met Uncertain significance Single submitter
GP1BA p.Trp323Arg Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Trp540Ser Uncertain significance Single submitter
GP1BA p.Val120Ile Uncertain significance Single submitter
GP1BA p.Val123Ile Uncertain significance Single submitter
GP1BA p.Val22Phe Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Val245Ile Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Val25Ala Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Val590Ala Uncertain significance Single submitter
GP1BA p.Val619Leu Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Arg137Pro Uncertain significance No assertion criteria
GP1BA-related disorder
GP1BA p.Arg233His Uncertain significance No assertion criteria
GP1BA-related disorder
GP1BA p.Leu536Ser Uncertain significance No assertion criteria
GP1BA-related disorder
GP1BA p.Ser378Pro Uncertain significance No assertion criteria
GP1BA-related disorder

Predictors split 33

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

GP1BA p.Asn221Lys Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Leu155Val Uncertain significance Expert panel
Bernard-Soulier syndrome
GP1BA p.Pro69Leu Benign Expert panel
Bernard-Soulier syndrome
GP1BA p.Ala172Val Pathogenic Multiple submitters
GP1BA-related disorders
GP1BA p.Cys280Arg Uncertain significance Multiple submitters
GP1BA p.Leu83Phe Likely pathogenic Multiple submitters
GP1BA-related disorders
GP1BA p.Pro421Leu Likely benign Multiple submitters
GP1BA p.Trp612Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GP1BA p.Ala418Gly Uncertain significance Single submitter
GP1BA p.Asn226Lys Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Asn239Asp Uncertain significance Single submitter
GP1BA p.Glu451Gly Uncertain significance Single submitter
GP1BA p.Gly279Val Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Leu213Pro Uncertain significance Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Phe232Ile Uncertain significance Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Pro109Thr Uncertain significance Single submitter
GP1BA p.Pro164Ala Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Pro204Ser Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Pro437Arg Uncertain significance Single submitter
GP1BA p.Pro46Leu Conflicting Single submitter
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Ser420Arg Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Ser651Asn Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr383Asn Uncertain significance Single submitter
GP1BA p.Thr405Ser Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr423Ile Uncertain significance Single submitter
Inborn genetic diseases
GP1BA p.Thr49Lys Uncertain significance Single submitter
GP1BA p.Thr50Ile Uncertain significance Single submitter
GP1BA p.Val259Leu Uncertain significance Single submitter
GP1BA p.Val262Met Uncertain significance Single submitter
GP1BA p.Gly138Val Likely pathogenic No assertion criteria
Abnormal bleeding
GP1BA p.His219Gln Uncertain significance No assertion criteria
Bernard-Soulier syndrome
GP1BA p.Leu64Pro Uncertain significance No assertion criteria
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA p.Trp246Leu Pathogenic No assertion criteria
platelet-type von Willebrand disease

All GP1BA variants

Pathogenic 17

p.Cys81Arg Expert panel Bernard-Soulier syndrome
p.Leu521fs Expert panel Bernard-Soulier syndrome
p.Ser486fs Expert panel Bernard-Soulier syndrome
p.Thr494fs Expert panel Bernard-Soulier syndrome
p.Trp540Ter Expert panel Bernard-Soulier syndrome
p.Ala172Val Multiple submitters GP1BA-related disorders ⚠
p.Cys20Gly Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Asp265Tyr Single submitter platelet-type von Willebrand disease ⚠
p.Cys33Tyr Single submitter GP1BA-related disorders
p.Glu425fs Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant
p.Glu442_Pro445delinsAsp Single submitter platelet-type von Willebrand disease
p.Gly249Asp Single submitter platelet-type von Willebrand disease ⚠
p.Ser470fs Single submitter Bernard-Soulier syndrome
p.Thr50fs Single submitter Macrothrombocytopenia
p.Cys225Ser No assertion criteria Bernard-Soulier syndrome
p.Glu167Ter No assertion criteria Bernard-Soulier syndrome
p.Trp246Leu No assertion criteria platelet-type von Willebrand disease ⚠

Pathogenic/Likely pathogenic 6

p.Asn150Ser Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Cys33Arg Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Gly249Ser Multiple submitters thrombocytopenia ⚠
p.Gly249Val Multiple submitters GP1BA-related disorders
p.Leu115Pro Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Met255Val Multiple submitters GP1BA-related disorders ⚠

Likely pathogenic 65

p.Ala318fs Expert panel Bernard-Soulier syndrome
p.Arg358_Trp359insTer Expert panel Bernard-Soulier syndrome
p.Asn32fs Expert panel Bernard-Soulier syndrome
p.Asn362fs Expert panel Bernard-Soulier syndrome
p.Asp79fs Expert panel Bernard-Soulier syndrome
p.Asp89fs Expert panel Bernard-Soulier syndrome
p.Cys225Arg Expert panel Bernard-Soulier syndrome
p.Gln346Ter Expert panel Bernard-Soulier syndrome
p.Glu347Ter Expert panel Bernard-Soulier syndrome
p.Glu489fs Expert panel Bernard-Soulier syndrome
p.Leu145Pro Expert panel Bernard-Soulier syndrome
p.Leu195del Expert panel Bernard-Soulier syndrome
p.Leu365fs Expert panel Bernard-Soulier syndrome
p.Leu479fs Expert panel Bernard-Soulier syndrome
p.Leu52fs Expert panel Bernard-Soulier syndrome
p.Leu531fs Expert panel Bernard-Soulier syndrome
p.Leu8fs Expert panel Bernard-Soulier syndrome
p.Leu92fs Expert panel Bernard-Soulier syndrome
p.Lys35fs Expert panel Bernard-Soulier syndrome
p.Met338fs Expert panel Bernard-Soulier syndrome
p.Phe208fs Expert panel Bernard-Soulier syndrome
p.Pro357fs Expert panel Bernard-Soulier syndrome
p.Ser130fs Expert panel Bernard-Soulier syndrome
p.Ser267Ter Expert panel Bernard-Soulier syndrome
p.Ser420fs Expert panel Bernard-Soulier syndrome
p.Ser486Ter Expert panel Bernard-Soulier syndrome
p.Ser55fs Expert panel Bernard-Soulier syndrome
p.Thr114fs Expert panel Bernard-Soulier syndrome
p.Thr316fs Expert panel Bernard-Soulier syndrome
p.Thr66_Leu67insTer Expert panel Bernard-Soulier syndrome
p.Trp223Gly Expert panel Bernard-Soulier syndrome
p.Trp329Ter Expert panel Bernard-Soulier syndrome
p.Trp359Ter Expert panel Bernard-Soulier syndrome
p.Tyr294Ter Expert panel Bernard-Soulier syndrome
p.Val311fs Expert panel Bernard-Soulier syndrome
p.Val94fs Expert panel Bernard-Soulier syndrome
p.Asn57Asp Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Gly158fs Multiple submitters thrombocytopenia
p.Leu73Phe Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant
p.Leu83Phe Multiple submitters GP1BA-related disorders ⚠
p.Asn175del Single submitter
p.Asn198Ser Single submitter GP1BA-related disorders
p.Cys20fs Single submitter GP1BA-related disorders
p.Cys33Gly Single submitter Bleeding and platelet disorders
p.Gln337Ter Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Gln567Ter Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Leu100fs Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Leu136Pro Single submitter thrombocytopenia
p.Leu142Phe Single submitter GP1BA-related disorders
p.Leu479Ter Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Leu512Ter Single submitter
p.Leu598fs Single submitter
p.Leu611fs Single submitter GP1BA-related disorders
p.Lys24Ter Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Ser476fs Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Thr371fs Single submitter Bernard-Soulier syndrome
p.Thr422fs Single submitter
p.Thr457fs Single submitter
p.Trp323Ter Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant
p.Tyr295fs Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Val262fs Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Ala431fs No assertion criteria Bernard-Soulier syndrome, type A1
p.Gly138Val No assertion criteria Abnormal bleeding ⚠
p.Ser428Ter No assertion criteria Bernard-Soulier syndrome
p.Ser651fs No assertion criteria Bernard-Soulier syndrome

Conflicting classifications of pathogenicity 12

p.Arg635Cys Single submitter Inborn genetic diseases ⚠
p.Asn57Lys Single submitter GP1BA-related disorders ⚠
p.Cys33Ser Single submitter ⚠
p.Gln561His Single submitter Inborn genetic diseases ⚠
p.Gly287Asp Single submitter Inborn genetic diseases ⚠
p.Gly302Asp Single submitter ⚠
p.Leu155Pro Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Leu194Phe Single submitter platelet-type von Willebrand disease ⚠
p.Phe207Ser Single submitter GP1BA-related disorders ⚠
p.Pro376Leu Single submitter Inborn genetic diseases ⚠
p.Pro46Leu Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Val485Ile Single submitter Inborn genetic diseases ⚠

Benign 10

p.Arg358= Expert panel Bernard-Soulier syndrome
p.Arg36Gly Expert panel Bernard-Soulier syndrome
p.Leu86Phe Expert panel Bernard-Soulier syndrome
p.Pro411Leu Expert panel Bernard-Soulier syndrome
p.Pro437= Expert panel Bernard-Soulier syndrome
p.Pro69Leu Expert panel Bernard-Soulier syndrome ⚠
p.Thr161Met Expert panel Bernard-Soulier syndrome
c.-6-42A>T Multiple submitters
p.Thr161= Multiple submitters
p.Thr453_Pro454insSerGluProAlaProSerProThrThrProGluProThrSerGluProAlaProSerProThrThrProGluProThr No assertion criteria nonarteritic anterior ischemic optic neuropathy, susceptibility to

Benign/Likely benign 11

c.-5T>C Multiple submitters
p.415_427SEPAPSPTTPEPT[1] Multiple submitters Bernard-Soulier syndrome
p.415_427SEPAPSPTTPEPT[2] Multiple submitters CIC-rearranged sarcoma
p.Arg72His Multiple submitters
p.Asn258= Multiple submitters
p.Gly302= Multiple submitters
p.Ile495= Multiple submitters
p.Ser441fs Multiple submitters nonarteritic anterior ischemic optic neuropathy, susceptibility to
p.Ser490= Multiple submitters
p.Thr436fs Multiple submitters
p.Thr448= Multiple submitters

Likely benign 62

p.Asn616fs Expert panel Bernard-Soulier syndrome
p.Ala459Thr Multiple submitters Inborn genetic diseases
p.His219= Multiple submitters
p.Leu184= Multiple submitters
p.Pro386= Multiple submitters
p.Pro391= Multiple submitters
p.Pro421Leu Multiple submitters ⚠
p.Pro484= Multiple submitters
p.Ser130= Multiple submitters
p.Thr119= Multiple submitters
p.Thr310= Multiple submitters
p.Thr435= Multiple submitters
p.Tyr244= Multiple submitters
p.Val485= Multiple submitters
p.415SEPAPSPTTPEPT[2] Single submitter
p.Ala181Pro Single submitter Inborn genetic diseases
p.Ala396Thr Single submitter Inborn genetic diseases
p.Ala431= Single submitter
p.Arg137His Single submitter Inborn genetic diseases
p.Arg592= Single submitter
p.Arg626= Single submitter
p.Asp251= Single submitter
p.Gln263Arg Single submitter Inborn genetic diseases
p.Glu188= Single submitter
p.Gly140= Single submitter
p.Gly96Glu Single submitter Inborn genetic diseases
p.Leu190= Single submitter
p.Leu194= Single submitter
p.Leu291= Single submitter
p.Leu402= Single submitter
p.Leu639= Single submitter
p.Lys247= Single submitter
p.Phe207= Single submitter
p.Pro180= Single submitter
p.Pro271= Single submitter
p.Pro315Ser Single submitter Inborn genetic diseases
p.Pro356= Single submitter
p.Pro391Ser Single submitter
p.Pro408= Single submitter
p.Pro411= Single submitter
p.Pro417= Single submitter
p.Pro424= Single submitter
p.Pro462= Single submitter
p.Pro523= Single submitter
p.Pro603= Single submitter
p.Ser107= Single submitter
p.Ser199= Single submitter
p.Ser389Pro Single submitter Inborn genetic diseases
p.Thr119Ala Single submitter
p.Thr575= Single submitter
p.Thr91= Single submitter
p.Tyr534= Single submitter
p.Asp335= No assertion criteria GP1BA-related disorder
p.Glu167= No assertion criteria GP1BA-related disorder
p.Glu425= No assertion criteria GP1BA-related disorder
p.Ile455= No assertion criteria GP1BA-related disorder
p.Phe372= No assertion criteria GP1BA-related disorder
p.Pro395= No assertion criteria GP1BA-related disorder
p.Pro421= No assertion criteria GP1BA-related disorder
p.Pro430= No assertion criteria GP1BA-related disorder
p.Pro46= No assertion criteria GP1BA-related disorder
p.Ser601= No assertion criteria GP1BA-related disorder

Uncertain significance 175

p.Arg137Cys Expert panel Bernard-Soulier syndrome ⚠
p.Asn126Asp Expert panel Bernard-Soulier syndrome ⚠
p.Asn221Lys Expert panel Bernard-Soulier syndrome ⚠
p.Cys264Arg Expert panel Bernard-Soulier syndrome ⚠
p.Cys81Ter Expert panel Bernard-Soulier syndrome
p.Gln196Ter Expert panel Bernard-Soulier syndrome
p.Gly220Arg Expert panel Bernard-Soulier syndrome ⚠
p.Leu155Val Expert panel Bernard-Soulier syndrome ⚠
p.Leu193Pro Expert panel Bernard-Soulier syndrome ⚠
p.Met1Leu Expert panel Bernard-Soulier syndrome
p.Phe478_Leu479insTer Expert panel Bernard-Soulier syndrome
p.Tyr534fs Expert panel Bernard-Soulier syndrome
p.Val262Gly Expert panel Bernard-Soulier syndrome ⚠
p.Val31Ala Expert panel Bernard-Soulier syndrome
p.Ala318Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg586Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg592Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg592Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg599Ter Multiple submitters
p.Arg635His Multiple submitters Inborn genetic diseases ⚠
p.Asn103Ser Multiple submitters ⚠
p.Asn174Asp Multiple submitters Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Asn221Ser Multiple submitters ⚠
p.Asp191Asn Multiple submitters ⚠
p.Asp238Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp285Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp518Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys280Arg Multiple submitters ⚠
p.Gln587His Multiple submitters Bernard-Soulier syndrome ⚠
p.Glu167Gln Multiple submitters ⚠
p.Leu580Pro Multiple submitters Inborn genetic diseases ⚠
p.Phe270Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro393Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro424Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro450Leu Multiple submitters ⚠
p.Pro519Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro523Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser336Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser514Asn Multiple submitters ⚠
p.Ser565Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp612Arg Multiple submitters Inborn genetic diseases ⚠
p.Val252Ile Multiple submitters Inborn genetic diseases ⚠
p.Val259Met Multiple submitters Inborn genetic diseases ⚠
p.Val272Ile Multiple submitters ⚠
p.Val31Glu Multiple submitters GP1BA-related disorder ⚠
p.Val588Ala Multiple submitters ⚠
p.Ala181Thr Single submitter Inborn genetic diseases ⚠
p.Ala26Gly Single submitter Inborn genetic diseases ⚠
p.Ala418Gly Single submitter ⚠
p.Ala570Thr Single submitter Inborn genetic diseases ⚠
p.Ala65Val Single submitter GP1BA-related disorder ⚠
p.Arg127Gln Single submitter platelet-type von Willebrand disease ⚠
p.Arg306His Single submitter Inborn genetic diseases ⚠
p.Arg505His Single submitter Inborn genetic diseases ⚠
p.Arg586Gly Single submitter Inborn genetic diseases ⚠
p.Arg592fs Single submitter
p.Arg606His Single submitter ⚠
p.Arg618His Single submitter GP1BA-related disorder ⚠
p.Arg627Lys Single submitter Bernard-Soulier syndrome ⚠
p.Arg646Lys Single submitter GP1BA-related disorder ⚠
p.Arg646Thr Single submitter Inborn genetic diseases ⚠
p.Asn185_Glu197delinsLys Single submitter
p.Asn226Lys Single submitter Inborn genetic diseases ⚠
p.Asn239Asp Single submitter ⚠
p.Asn398Asp Single submitter Inborn genetic diseases ⚠
p.Asn77Thr Single submitter Inborn genetic diseases ⚠
p.Asp191His Single submitter Inborn genetic diseases ⚠
p.Asp265Asn Single submitter Inborn genetic diseases ⚠
p.Asp48Glu Single submitter ⚠
p.Asp638Asn Single submitter Inborn genetic diseases ⚠
p.Cys227Tyr Single submitter ⚠
p.Cys526Ser Single submitter
p.Cys527Gly Single submitter
p.Gln106Glu Single submitter ⚠
p.Gln196= Single submitter GP1BA-related disorder
p.Gln576Glu Single submitter Inborn genetic diseases ⚠
p.Gln75His Single submitter ⚠
p.Glu167Gly Single submitter Inborn genetic diseases ⚠
p.Glu21Ala Single submitter ⚠
p.Glu351Gln Single submitter Inborn genetic diseases ⚠
p.Glu351Val Single submitter Inborn genetic diseases ⚠
p.Glu394Asp Single submitter ⚠
p.Glu451Gly Single submitter ⚠
p.Gly112Arg Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Gly206Arg Single submitter ⚠
p.Gly279Val Single submitter Inborn genetic diseases ⚠
p.Gly532Ala Single submitter Inborn genetic diseases ⚠
p.Gly532Cys Single submitter Inborn genetic diseases ⚠
p.Gly566Asp Single submitter ⚠
p.Gly585Ala Single submitter Inborn genetic diseases ⚠
p.Gly620Val Single submitter ⚠
p.Gly634Ser Single submitter Inborn genetic diseases ⚠
p.Ile203Thr Single submitter ⚠
p.Ile370Val Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Ile549Asn Single submitter Inborn genetic diseases ⚠
p.Leu10del Single submitter
p.Leu176Trp Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to ⚠
p.Leu184Gln Single submitter ⚠
p.Leu190His Single submitter ⚠
p.Leu212Phe Single submitter GP1BA-related disorder ⚠
p.Leu213Pro Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Leu325Ile Single submitter Inborn genetic diseases ⚠
p.Leu365Phe Single submitter nonarteritic anterior ischemic optic neuropathy, susceptibility to ⚠
p.Leu479Val Single submitter Inborn genetic diseases ⚠
p.Leu552Gln Single submitter Bernard-Soulier syndrome ⚠
p.Leu58Phe Single submitter Inborn genetic diseases ⚠
p.Leu59Pro Single submitter GP1BA-related disorder ⚠
p.Leu67Arg Single submitter Macrothrombocytopenia ⚠
p.Leu95Arg Single submitter GP1BA-related disorder ⚠
p.Lys253Glu Single submitter Inborn genetic diseases ⚠
p.Lys493Arg Single submitter ⚠
p.Lys503Asn Single submitter Inborn genetic diseases ⚠
p.Phe207Cys Single submitter ⚠
p.Phe232Ile Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Phe478Val Single submitter ⚠
p.Pro109Thr Single submitter ⚠
p.Pro11Leu Single submitter Inborn genetic diseases ⚠
p.Pro164Ala Single submitter Inborn genetic diseases ⚠
p.Pro204Ser Single submitter Inborn genetic diseases ⚠
p.Pro376Ala Single submitter ⚠
p.Pro395Ser Single submitter platelet-type von Willebrand disease ⚠
p.Pro437Arg Single submitter ⚠
p.Pro530Leu Single submitter Inborn genetic diseases ⚠
p.Ser107Arg Single submitter ⚠
p.Ser130Leu Single submitter Inborn genetic diseases ⚠
p.Ser199Leu Single submitter Inborn genetic diseases ⚠
p.Ser341Pro Single submitter Inborn genetic diseases ⚠
p.Ser378Phe Single submitter Inborn genetic diseases ⚠
p.Ser415_Thr453del Single submitter Bernard-Soulier syndrome, type A2, autosomal dominant
p.Ser415Thr Single submitter Inborn genetic diseases ⚠
p.Ser420Arg Single submitter Inborn genetic diseases ⚠
p.Ser470Arg Single submitter Inborn genetic diseases ⚠
p.Ser515Phe Single submitter Inborn genetic diseases ⚠
p.Ser601Leu Single submitter ⚠
p.Ser629Ter Single submitter
p.Ser651Asn Single submitter Inborn genetic diseases ⚠
p.Thr154Asn Single submitter ⚠
p.Thr321Ala Single submitter Inborn genetic diseases ⚠
p.Thr349Ser Single submitter Inborn genetic diseases ⚠
p.Thr354Arg Single submitter Bernard-Soulier syndrome ⚠
p.Thr383Asn Single submitter ⚠
p.Thr401Ile Single submitter ⚠
p.Thr405Ser Single submitter Inborn genetic diseases ⚠
p.Thr423_Thr457del Single submitter
p.Thr423Ile Single submitter Inborn genetic diseases ⚠
p.Thr453_Ile458del Single submitter
p.Thr460Ile Single submitter Inborn genetic diseases ⚠
p.Thr469Ile Single submitter ⚠
p.Thr49Lys Single submitter ⚠
p.Thr50Ile Single submitter ⚠
p.Thr50Ser Single submitter Inborn genetic diseases ⚠
p.Thr642fs Single submitter
p.Thr66Ile Single submitter Inborn genetic diseases ⚠
p.Thr91Met Single submitter ⚠
p.Trp323Arg Single submitter Inborn genetic diseases ⚠
p.Trp540Ser Single submitter ⚠
p.Tyr534His Single submitter
p.Val120Ile Single submitter ⚠
p.Val123Ile Single submitter ⚠
p.Val22Phe Single submitter Inborn genetic diseases ⚠
p.Val245Ile Single submitter Inborn genetic diseases ⚠
p.Val259Leu Single submitter ⚠
p.Val25Ala Single submitter Inborn genetic diseases ⚠
p.Val262Met Single submitter ⚠
p.Val590Ala Single submitter ⚠
p.Val619Leu Single submitter Inborn genetic diseases ⚠
p.Arg137Pro No assertion criteria GP1BA-related disorder ⚠
p.Arg233His No assertion criteria GP1BA-related disorder ⚠
p.His219Gln No assertion criteria Bernard-Soulier syndrome ⚠
p.Leu536Ser No assertion criteria GP1BA-related disorder ⚠
p.Leu64Pro No assertion criteria Bernard-Soulier syndrome, type A2, autosomal dominant ⚠
p.Pro406_Thr414del No assertion criteria GP1BA-related disorder
p.Pro426fs No assertion criteria Abnormal bleeding
p.Ser378Pro No assertion criteria GP1BA-related disorder ⚠
p.Thr84del No assertion criteria Bernard-Soulier syndrome