Sugi Variant

Sugi Variant/THAP11

THAP11 — 107 ClinVar variants

All ClinVar germline THAP11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →

1 Likely pathogenic · 1 Conflicting · 8 Benign · 3 Benign/Likely benign · 33 Likely benign · 61 Uncertain significance

Full THAP11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 44

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 23

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

Predictors split 20

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

All THAP11 variants

Likely pathogenic 1

  • p.Phe80Leu Single submitter methylmalonic acidemia with homocystinuria, type cblX

Conflicting classifications of pathogenicity 1

Benign 8

Benign/Likely benign 3

Likely benign 33

Uncertain significance 61