Sugi Variant

Sugi Variant/CDH11

CDH11 — 158 ClinVar variants

All ClinVar germline CDH11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 10 Benign · 3 Benign/Likely benign · 26 Likely benign · 105 Uncertain significance

Full CDH11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 107

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 56

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

Predictors split 51

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

All CDH11 variants

Pathogenic 8

  • c.999+1G>T No assertion criteria Elsahy-Waters syndrome
  • p.Asp260Glu No assertion criteria Teebi hypertelorism syndrome 2
  • p.Glu279Gln No assertion criteria Teebi hypertelorism syndrome 2
  • p.Gly327Trp No assertion criteria Teebi hypertelorism syndrome 2
  • p.Ile372fs No assertion criteria Elsahy-Waters syndrome
  • p.Trp55Ser No assertion criteria Teebi hypertelorism syndrome 2
  • p.Tyr232Ter No assertion criteria Elsahy-Waters syndrome
  • p.Val374Glu No assertion criteria Teebi hypertelorism syndrome 2

Pathogenic/Likely pathogenic 1

  • p.Asp260Asn Multiple submitters Elsahy-Waters syndrome

Likely pathogenic 5

Benign 10

Benign/Likely benign 3

Likely benign 26

Uncertain significance 105