Sugi Variant

Sugi Variant/GRID2

GRID2 — 326 ClinVar variants

All ClinVar germline GRID2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 5 Conflicting · 37 Benign · 8 Benign/Likely benign · 85 Likely benign · 180 Uncertain significance

Full GRID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 4

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

Predictors lean, ClinVar uncertain 118

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

Predictors split 49

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

All GRID2 variants

Pathogenic 3

Pathogenic/Likely pathogenic 2

  • p.Ala654Thr Multiple submitters Inborn genetic diseases
  • p.Thr649Ala Multiple submitters autosomal recessive spinocerebellar ataxia 18

Likely pathogenic 6

Conflicting classifications of pathogenicity 5

Benign 37

Benign/Likely benign 8

Likely benign 85

Uncertain significance 180