Sugi Variant

Sugi Variant/FOXA2

FOXA2 — 173 ClinVar variants

All ClinVar germline FOXA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

3 Likely pathogenic · 7 Conflicting · 14 Benign · 4 Benign/Likely benign · 33 Likely benign · 112 Uncertain significance

Full FOXA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

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 5

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

Predictors lean, ClinVar uncertain 63

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

Predictors split 35

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

All FOXA2 variants

Likely pathogenic 3

  • p.Gln207Ter Single submitter non-acquired combined pituitary hormone deficiency
  • p.Leu188fs Single submitter
  • p.Ser169Trp Single submitter Congenital syndromic hypopituitarism

Conflicting classifications of pathogenicity 7

Benign 14

Benign/Likely benign 4

Likely benign 33

Uncertain significance 112