Sugi Variant

Sugi Variant/GNB2

GNB2 — 100 ClinVar variants

All ClinVar germline GNB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 2 Benign · 23 Likely benign · 64 Uncertain significance

Full GNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 61

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 44

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

Predictors split 16

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

All GNB2 variants

Pathogenic 5

  • p.Asn119Lys Single submitter
  • p.Asp76Gly Single submitter neurodevelopmental disorder with hypotonia and dysmorphic facies
  • p.Lys89Glu Single submitter neurodevelopmental disorder with hypotonia and dysmorphic facies
  • p.Arg52Leu No assertion criteria sick sinus syndrome 4
  • p.Lys89Thr No assertion criteria neurodevelopmental disorder with hypotonia and dysmorphic facies

Pathogenic/Likely pathogenic 2

  • p.Ala73Thr Multiple submitters neurodevelopmental disorder with hypotonia and dysmorphic facies
  • p.Gly77Glu Multiple submitters GNB2-related disorder

Likely pathogenic 3

  • p.Arg48Gln Single submitter
  • p.Asn268Ile Single submitter neurodevelopmental disorder with hypotonia and dysmorphic facies ⚠
  • p.Gly77Trp Single submitter Global developmental delay

Conflicting classifications of pathogenicity 1

Benign 2

Likely benign 23

Uncertain significance 64