Sugi Variant

Sugi Variant/ATXN1

ATXN1 — 203 ClinVar variants

All ClinVar germline ATXN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

1 Pathogenic · 8 Conflicting · 11 Benign · 4 Benign/Likely benign · 66 Likely benign · 113 Uncertain significance

Full ATXN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 6

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

Predictors lean, ClinVar uncertain 87

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

Predictors split 10

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

All ATXN1 variants

Pathogenic 1

Conflicting classifications of pathogenicity 8

Benign 11

Benign/Likely benign 4

Likely benign 66

Uncertain significance 113