Sugi Variant

Sugi Variant/FOXI3

FOXI3 — 398 ClinVar variants

All ClinVar germline FOXI3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 2 Conflicting · 4 Benign · 120 Likely benign · 264 Uncertain significance

Full FOXI3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 194

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 158

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 158

Predictors split 35

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

All FOXI3 variants

Pathogenic/Likely pathogenic 1

  • p.Phe234Val No assertion criteria craniofacial microsomia

Likely pathogenic 7

Conflicting classifications of pathogenicity 2

Benign 4

Likely benign 120

Uncertain significance 264