Sugi Variant

Sugi Variant/TAF6

TAF6 — 208 ClinVar variants

All ClinVar germline TAF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 24 Benign · 7 Benign/Likely benign · 59 Likely benign · 110 Uncertain significance

Full TAF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 2

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

Predictors lean, ClinVar uncertain 81

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

Predictors split 14

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

All TAF6 variants

Pathogenic 2

  • p.Arg320Ter Single submitter Inborn genetic diseases
  • p.Arg46Cys No assertion criteria Alazami-Yuan syndrome

Likely pathogenic 3

Conflicting classifications of pathogenicity 3

Benign 24

Benign/Likely benign 7

Likely benign 59

Uncertain significance 110