Sugi Variant

Sugi Variant/FOXE1

FOXE1 — 125 ClinVar variants

All ClinVar germline FOXE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 20 Benign · 3 Benign/Likely benign · 21 Likely benign · 74 Uncertain significance

Full FOXE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 lean, ClinVar uncertain 53

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

Predictors split 12

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

All FOXE1 variants

Pathogenic 4

  • p.Ala65Val No assertion criteria Bamforth-Lazarus syndrome
  • p.Arg102Cys No assertion criteria Bamforth-Lazarus syndrome
  • p.Leu49fs No assertion criteria Bamforth-Lazarus syndrome
  • p.Ser57Asn No assertion criteria Bamforth-Lazarus syndrome

Likely pathogenic 2

  • p.Arg116Ser Single submitter thyroid cancer, nonmedullary, 4
  • p.Asp109Val No assertion criteria congenital hypothyreodism

Conflicting classifications of pathogenicity 1

Benign 20

Benign/Likely benign 3

Likely benign 21

Uncertain significance 74