GAB1 — 101 ClinVar variants
All ClinVar germline GAB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
1 Pathogenic · 1 Conflicting · 10 Benign · 10 Likely benign · 79 Uncertain significance
Full GAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GAB1 p.Ala252Ser Uncertain significance Single submitter
- GAB1 p.Ala280Thr Uncertain significance Single submitter
- GAB1 p.Ala366Val Uncertain significance Single submitter
- GAB1 p.Ala411Val Uncertain significance Single submitter
- GAB1 p.Arg457Gln Uncertain significance Single submitter
- GAB1 p.Arg569Gln Uncertain significance Single submitter
- GAB1 p.Arg58His Uncertain significance Single submitter
- GAB1 p.Asn315Ile Uncertain significance Single submitter
- GAB1 p.Asn607Lys Uncertain significance Single submitter
- GAB1 p.Asp179His Uncertain significance Single submitter
- GAB1 p.Asp243Asn Uncertain significance Single submitter
- GAB1 p.Asp281Glu Uncertain significance Single submitter
- GAB1 p.Asp281Gly Uncertain significance Single submitter
- GAB1 p.Asp339Asn Uncertain significance Single submitter
- GAB1 p.Asp600Glu Uncertain significance Single submitter
- GAB1 p.Asp600Gly Uncertain significance Single submitter
- GAB1 p.Asp610Val Uncertain significance Single submitter
- GAB1 p.Cys213Gly Uncertain significance Single submitter
- GAB1 p.Cys213Ser Uncertain significance Single submitter
- GAB1 p.Gln177Glu Uncertain significance Single submitter
- GAB1 p.Gln238Arg Uncertain significance Single submitter
- GAB1 p.Glu195Lys Uncertain significance Single submitter
- GAB1 p.Gly436Arg Uncertain significance Single submitter
- GAB1 p.His426Asn Uncertain significance Single submitter
- GAB1 p.Ile142Leu Uncertain significance Single submitter
- GAB1 p.Ile309Val Uncertain significance Single submitter
- GAB1 p.Ile59Val Uncertain significance Single submitter
- GAB1 p.Leu12Arg Uncertain significance Single submitter
- GAB1 p.Leu270Ser Uncertain significance Single submitter
- GAB1 p.Lys644Arg Uncertain significance Single submitter
- GAB1 p.Met592Thr Uncertain significance Single submitter
- GAB1 p.Met616Ile Uncertain significance Single submitter
- GAB1 p.Pro147Leu Uncertain significance Single submitter
- GAB1 p.Pro159His Uncertain significance Single submitter
- GAB1 p.Pro168Ser Uncertain significance Single submitter
- GAB1 p.Pro168Thr Uncertain significance Single submitter
- GAB1 p.Pro194Arg Uncertain significance Single submitter
- GAB1 p.Pro271Arg Uncertain significance Single submitter
- GAB1 p.Pro350Ala Uncertain significance Single submitter
- GAB1 p.Pro456Arg Uncertain significance Single submitter
- GAB1 p.Pro640Ser Uncertain significance Single submitter
- GAB1 p.Ser277Asn Uncertain significance Single submitter
- GAB1 p.Ser294Leu Uncertain significance Single submitter
- GAB1 p.Ser361Arg Uncertain significance Single submitter
- GAB1 p.Ser385Gly Uncertain significance Single submitter
- GAB1 p.Ser439Pro Uncertain significance Single submitter
- GAB1 p.Ser484Leu Uncertain significance Single submitter
- GAB1 p.Ser582Thr Uncertain significance Single submitter
- GAB1 p.Ser645Ile Uncertain significance Single submitter
- GAB1 p.Ser650Arg Uncertain significance Single submitter
- GAB1 p.Thr199Met Uncertain significance Single submitter
- GAB1 p.Thr293Ile Uncertain significance Single submitter
- GAB1 p.Thr359Met Uncertain significance Single submitter
- GAB1 p.Thr369Ala Uncertain significance Single submitter
- GAB1 p.Thr464Ala Uncertain significance Single submitter
- GAB1 p.Tyr472Cys Uncertain significance Single submitter
- GAB1 p.Val448Ile Uncertain significance Single submitter
- GAB1 p.Val7Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- GAB1 p.Arg263Gly Uncertain significance Single submitter
- GAB1 p.Arg344Gln Uncertain significance Single submitter
-
GAB1 p.Arg37His
Conflicting
Single submitter
15q14 microdeletion syndrome
- GAB1 p.Arg641Ser Uncertain significance Single submitter
- GAB1 p.Asn315Lys Uncertain significance Single submitter
- GAB1 p.Asp41Val Uncertain significance Single submitter
- GAB1 p.Asp584Asn Uncertain significance Single submitter
- GAB1 p.Glu675Lys Uncertain significance Single submitter
- GAB1 p.Gly621Arg Uncertain significance Single submitter
- GAB1 p.Met475Ile Uncertain significance Single submitter
- GAB1 p.Pro17Ser Uncertain significance Single submitter
- GAB1 p.Pro310Leu Uncertain significance Single submitter
- GAB1 p.Ser2Arg Uncertain significance Single submitter
- GAB1 p.Thr503Asn Uncertain significance Single submitter
- GAB1 p.Tyr95Phe Uncertain significance Single submitter
All GAB1 variants
Pathogenic 1
- p.Gly116Glu Single submitter autosomal recessive nonsyndromic hearing loss 26
Conflicting classifications of pathogenicity 1
- p.Arg37His Single submitter 15q14 microdeletion syndrome ⚠
Benign 10
- c.1196-47G>A Multiple submitters
- c.1586-139G>A Multiple submitters
- c.1680-116A>G Multiple submitters
- c.1680-54A>G Multiple submitters
- c.1585+181C>T Single submitter
- c.1586-1770del Single submitter
- c.1586-1771_1586-1770del Single submitter
- c.367+164dup Single submitter
- c.-222C>T Single submitter
- p.Pro17= No assertion criteria GAB1-related disorder
Likely benign 10
- c.1586-1635C>T Single submitter
- c.1586-1681T>C Single submitter
- p.Asn166Ser Single submitter
- p.Gln458= Single submitter
- p.Leu630= Single submitter
- p.Pro194= Single submitter
- p.Tyr447= Single submitter
- p.His349= No assertion criteria GAB1-related disorder
- p.Thr464= No assertion criteria GAB1-related disorder
- p.Thr688= No assertion criteria GAB1-related disorder
Uncertain significance 79
- c.1586-1631G>A Single submitter
- c.1586-1660G>T Single submitter
- p.Ala252Ser Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala366Val Single submitter ⚠
- p.Ala411Val Single submitter ⚠
- p.Arg263Gly Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Arg58His Single submitter ⚠
- p.Arg641Ser Single submitter ⚠
- p.Asn233Tyr Single submitter
- p.Asn315Ile Single submitter ⚠
- p.Asn315Lys Single submitter ⚠
- p.Asn50Ser Single submitter
- p.Asn607Lys Single submitter ⚠
- p.Asp179His Single submitter ⚠
- p.Asp243Asn Single submitter ⚠
- p.Asp281Glu Single submitter ⚠
- p.Asp281Gly Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp41Val Single submitter ⚠
- p.Asp584Asn Single submitter ⚠
- p.Asp600Glu Single submitter ⚠
- p.Asp600Gly Single submitter ⚠
- p.Asp610Val Single submitter ⚠
- p.Cys213Gly Single submitter ⚠
- p.Cys213Ser Single submitter ⚠
- p.Gln177Glu Single submitter ⚠
- p.Gln238Arg Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu675Lys Single submitter ⚠
- p.Gly436Arg Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.His426Asn Single submitter ⚠
- p.Ile142Leu Single submitter ⚠
- p.Ile309Val Single submitter ⚠
- p.Ile59Val Single submitter ⚠
- p.Leu12Arg Single submitter ⚠
- p.Leu270Ser Single submitter ⚠
- p.Lys644Arg Single submitter ⚠
- p.Met475Ile Single submitter ⚠
- p.Met487_Gln488delinsLys Single submitter autosomal recessive nonsyndromic hearing loss 26
- p.Met592Thr Single submitter ⚠
- p.Met616Ile Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro159His Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro168Thr Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro271Arg Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Pro310Ser Single submitter
- p.Pro350Ala Single submitter ⚠
- p.Pro456Arg Single submitter ⚠
- p.Pro640Ser Single submitter ⚠
- p.Ser277Asn Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Ser2Arg Single submitter ⚠
- p.Ser361Arg Single submitter ⚠
- p.Ser385Gly Single submitter ⚠
- p.Ser439Pro Single submitter ⚠
- p.Ser484Leu Single submitter ⚠
- p.Ser582Thr Single submitter ⚠
- p.Ser645Ile Single submitter ⚠
- p.Ser650Arg Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr359Met Single submitter ⚠
- p.Thr369Ala Single submitter ⚠
- p.Thr464Ala Single submitter ⚠
- p.Thr503Asn Single submitter ⚠
- p.Tyr406His Single submitter
- p.Tyr472Cys Single submitter ⚠
- p.Tyr95Phe Single submitter ⚠
- p.Val448Ile Single submitter ⚠
- p.Val7Leu Single submitter ⚠