G3BP1 — 69 ClinVar variants
All ClinVar germline G3BP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
3 Likely pathogenic · 66 Uncertain significance
Full G3BP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- G3BP1 p.Ala115Pro Uncertain significance Single submitter
- G3BP1 p.Ala121Thr Uncertain significance Single submitter
- G3BP1 p.Ala223Gly Uncertain significance Single submitter
- G3BP1 p.Ala236Val Uncertain significance Single submitter
- G3BP1 p.Ala52Ser Uncertain significance Single submitter
- G3BP1 p.Arg331Gln Uncertain significance Single submitter
- G3BP1 p.Asn100Asp Uncertain significance Single submitter
- G3BP1 p.Asp129Gly Uncertain significance Single submitter
- G3BP1 p.Asp226Asn Uncertain significance Single submitter
- G3BP1 p.Asp88Gly Uncertain significance Single submitter
- G3BP1 p.Glu152Val Uncertain significance Single submitter
- G3BP1 p.Glu205Ala Uncertain significance Single submitter
- G3BP1 p.Glu389Gln Uncertain significance Single submitter
- G3BP1 p.Glu420Asp Uncertain significance Single submitter
- G3BP1 p.Gly437Val Uncertain significance Single submitter
- G3BP1 p.Gly459Glu Uncertain significance Single submitter
- G3BP1 p.Gly96Glu Uncertain significance Single submitter
- G3BP1 p.His186Arg Uncertain significance Single submitter
- G3BP1 p.His79Tyr Uncertain significance Single submitter
- G3BP1 p.His83Leu Uncertain significance Single submitter
- G3BP1 p.Ile371Val Uncertain significance Single submitter
- G3BP1 p.Leu10Pro Uncertain significance Single submitter
- G3BP1 p.Leu395His Uncertain significance Single submitter
- G3BP1 p.Met29Val Uncertain significance Single submitter
- G3BP1 p.Pro116Leu Uncertain significance Single submitter
- G3BP1 p.Pro194Ser Uncertain significance Single submitter
- G3BP1 p.Pro215Leu Uncertain significance Single submitter
- G3BP1 p.Pro261Ser Uncertain significance Single submitter
- G3BP1 p.Pro282Ser Uncertain significance Single submitter
- G3BP1 p.Pro288Leu Uncertain significance Single submitter
- G3BP1 p.Pro446Leu Uncertain significance Single submitter
- G3BP1 p.Pro446Ser Uncertain significance Single submitter
- G3BP1 p.Ser170Tyr Uncertain significance Single submitter
- G3BP1 p.Ser231Pro Uncertain significance Single submitter
- G3BP1 p.Ser231Tyr Uncertain significance Single submitter
- G3BP1 p.Ser339Asn Uncertain significance Single submitter
- G3BP1 p.Thr241Lys Uncertain significance Single submitter
- G3BP1 p.Thr415Ile Uncertain significance Single submitter
- G3BP1 p.Val137Ile Uncertain significance Single submitter
- G3BP1 p.Val166Ile Uncertain significance Single submitter
- G3BP1 p.Val179Asp Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- G3BP1 p.Arg403Gly Uncertain significance Single submitter
- G3BP1 p.Glu355Gln Uncertain significance Single submitter
- G3BP1 p.Glu389Lys Uncertain significance Single submitter
- G3BP1 p.Gly139Cys Uncertain significance Single submitter
- G3BP1 p.Gly436Cys Uncertain significance Single submitter
- G3BP1 p.His336Gln Uncertain significance Single submitter
- G3BP1 p.His340Gln Uncertain significance Single submitter
- G3BP1 p.Ile130Thr Uncertain significance Single submitter
- G3BP1 p.Lys76Gln Uncertain significance Single submitter
- G3BP1 p.Met95Thr Uncertain significance Single submitter
- G3BP1 p.Phe70Tyr Uncertain significance Single submitter
- G3BP1 p.Pro198Arg Uncertain significance Single submitter
- G3BP1 p.Thr255Ala Uncertain significance Single submitter
- G3BP1 p.Tyr56Cys Uncertain significance Single submitter
All G3BP1 variants
Likely pathogenic 3
- c.177+1G>A Single submitter
- c.95+1G>A Single submitter
- c.955+3A>G Single submitter
Uncertain significance 66
- c.442+1G>T Single submitter
- c.955+2T>G Single submitter
- p.Ala115Pro Single submitter ⚠
- p.Ala121Thr Single submitter ⚠
- p.Ala223Gly Single submitter ⚠
- p.Ala236fs Single submitter
- p.Ala236Val Single submitter ⚠
- p.Ala417fs Single submitter
- p.Ala52Ser Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg403Gly Single submitter ⚠
- p.Asn100Asp Single submitter ⚠
- p.Asn309fs Single submitter
- p.Asp129Gly Single submitter ⚠
- p.Asp226Asn Single submitter ⚠
- p.Asp88Gly Single submitter ⚠
- p.Gln281Ter Single submitter
- p.Glu152Val Single submitter ⚠
- p.Glu205Ala Single submitter ⚠
- p.Glu329Gly Single submitter
- p.Glu355Gln Single submitter ⚠
- p.Glu389Gln Single submitter ⚠
- p.Glu389Lys Single submitter ⚠
- p.Glu420Asp Single submitter ⚠
- p.Gly139Cys Single submitter ⚠
- p.Gly436Cys Single submitter ⚠
- p.Gly437Val Single submitter ⚠
- p.Gly449fs Single submitter
- p.Gly459Glu Single submitter ⚠
- p.Gly96Glu Single submitter ⚠
- p.His186Arg Single submitter ⚠
- p.His336Gln Single submitter ⚠
- p.His340Gln Single submitter ⚠
- p.His79Tyr Single submitter ⚠
- p.His83Leu Single submitter ⚠
- p.Ile130Thr Single submitter ⚠
- p.Ile371Val Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu395His Single submitter ⚠
- p.Lys76Gln Single submitter ⚠
- p.Met29Val Single submitter ⚠
- p.Met95del Single submitter
- p.Met95Thr Single submitter ⚠
- p.Phe70Tyr Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro198Arg Single submitter ⚠
- p.Pro215Leu Single submitter ⚠
- p.Pro261Ser Single submitter ⚠
- p.Pro282Ser Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro446Leu Single submitter ⚠
- p.Pro446Ser Single submitter ⚠
- p.Ser170Tyr Single submitter ⚠
- p.Ser231Pro Single submitter ⚠
- p.Ser231Tyr Single submitter ⚠
- p.Ser339Asn Single submitter ⚠
- p.Thr241Lys Single submitter ⚠
- p.Thr255Ala Single submitter ⚠
- p.Thr415Ala Single submitter
- p.Thr415Ile Single submitter ⚠
- p.Tyr56Cys Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val166Ile Single submitter ⚠
- p.Val179Asp Single submitter ⚠
- p.Val384del Single submitter