Sugi Variant

Sugi Variant/GNB3

GNB3 — 373 ClinVar variants

All ClinVar germline GNB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →

2 Pathogenic · 2 Conflicting · 29 Benign · 3 Benign/Likely benign · 141 Likely benign · 196 Uncertain significance

Full GNB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 163

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 71

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

All GNB3 variants

Pathogenic 2

  • p.Lys57del No assertion criteria congenital stationary night blindness 1H
  • p.Trp339Ter No assertion criteria congenital stationary night blindness 1H

Conflicting classifications of pathogenicity 2

Benign 29

Benign/Likely benign 3

Likely benign 141

Uncertain significance 196