Sugi Variant

Sugi Variant/ATXN2

ATXN2 — 247 ClinVar variants

All ClinVar germline ATXN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 10 Conflicting · 14 Benign · 2 Benign/Likely benign · 58 Likely benign · 160 Uncertain significance

Full ATXN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 5

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

Predictors lean, ClinVar uncertain 116

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

Predictors split 35

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

All ATXN2 variants

Pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 10

Benign 14

Benign/Likely benign 2

  • c.-162C>G Multiple submitters spinocerebellar ataxia type 2
  • c.289-11del No assertion criteria spinocerebellar ataxia type 2

Likely benign 58

Uncertain significance 160