Sugi Variant

Sugi Variant/TFAP2B

TFAP2B — 196 ClinVar variants

All ClinVar germline TFAP2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 3 Conflicting · 18 Benign · 4 Benign/Likely benign · 44 Likely benign · 97 Uncertain significance

Full TFAP2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 3

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 22

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

All TFAP2B variants

Pathogenic 16

Pathogenic/Likely pathogenic 1

Likely pathogenic 13

Conflicting classifications of pathogenicity 3

Benign 18

Benign/Likely benign 4

Likely benign 44

Uncertain significance 97