Sugi Variant

Sugi Variant/WNT1

WNT1 — 306 ClinVar variants

All ClinVar germline WNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

23 Pathogenic · 5 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 10 Conflicting · 2 Benign · 1 Benign/Likely benign · 69 Likely benign · 175 Uncertain significance

Full WNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 119

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

Predictors split 36

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

All WNT1 variants

Pathogenic 23

Pathogenic/Likely pathogenic 5

  • p.Ala24fs Multiple submitters
  • p.Cys227Ter Multiple submitters osteogenesis imperfecta type 15
  • p.Glu183fs Multiple submitters osteogenesis imperfecta type 15
  • p.Ser295Ter Multiple submitters Inborn genetic diseases
  • p.Trp167Cys Multiple submitters osteogenesis imperfecta type 3

Likely pathogenic 21

Conflicting classifications of pathogenicity 10

Benign 2

Benign/Likely benign 1

  • p.Ser88Arg Multiple submitters osteogenesis imperfecta type 15

Likely benign 69

Uncertain significance 175