Sugi Variant

Sugi Variant/GTF2E2

GTF2E2 — 178 ClinVar variants

All ClinVar germline GTF2E2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

2 Pathogenic · 1 Conflicting · 15 Benign · 2 Benign/Likely benign · 84 Likely benign · 74 Uncertain significance

Full GTF2E2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 46

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

Predictors split 17

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

All GTF2E2 variants

Pathogenic 2

  • p.Asp187Tyr Single submitter trichothiodystrophy 6, nonphotosensitive
  • p.Ala150Pro No assertion criteria trichothiodystrophy 6, nonphotosensitive ⚠

Conflicting classifications of pathogenicity 1

Benign 15

Benign/Likely benign 2

Likely benign 84

Uncertain significance 74