Sugi Variant

Sugi Variant/TDP2

TDP2 — 84 ClinVar variants

All ClinVar germline TDP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

10 Pathogenic · 2 Likely pathogenic · 5 Benign · 2 Benign/Likely benign · 14 Likely benign · 51 Uncertain significance

Full TDP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 lean, ClinVar uncertain 39

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

Predictors split 11

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

All TDP2 variants

Pathogenic 10

Likely pathogenic 2

  • c.635_636+2del Single submitter spinocerebellar ataxia, autosomal recessive 23
  • p.Ser187Ter Single submitter spinocerebellar ataxia, autosomal recessive 23

Benign 5

Benign/Likely benign 2

Likely benign 14

Uncertain significance 51