Sugi Variant

Sugi Variant/TUFT1

TUFT1 — 59 ClinVar variants

All ClinVar germline TUFT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

2 Pathogenic · 2 Benign · 5 Likely benign · 50 Uncertain significance

Full TUFT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 42

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

Predictors split 7

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

All TUFT1 variants

Pathogenic 2

  • c.60+1G>A No assertion criteria woolly hair-skin fragility syndrome
  • p.Gln189fs No assertion criteria woolly hair-skin fragility syndrome

Benign 2

Likely benign 5

Uncertain significance 50