Sugi Variant

Sugi Variant/ZEB1

ZEB1 — 222 ClinVar variants

All ClinVar germline ZEB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

23 Pathogenic · 2 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 5 Conflicting · 13 Benign · 6 Benign/Likely benign · 27 Likely benign · 127 Uncertain significance

Full ZEB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 98

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

Predictors split 23

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

All ZEB1 variants

Pathogenic 23

Pathogenic/Likely pathogenic 2

  • p.His231fs Multiple submitters ZEB1-related disorder
  • p.Ile365fs Single submitter corneal dystrophy

Likely pathogenic 19

  • c.687+1G>A Single submitter ZEB1-related disorder
  • c.688-1G>A Single submitter posterior polymorphous corneal dystrophy 1
  • p.Asn620fs Single submitter
  • p.Gln121Ter Single submitter corneal dystrophy, Fuchs endothelial, 6
  • p.Gln169fs Single submitter corneal dystrophy, Fuchs endothelial, 6
  • p.Gln885fs Single submitter ZEB1-related disorder
  • p.Gln999Ter Single submitter posterior polymorphous corneal dystrophy 3
  • p.Glu496Ter Single submitter ZEB1-related disorder
  • p.Glu749fs Single submitter ZEB1-related disorder
  • p.Ile474fs Single submitter ZEB1-related disorder
  • p.Leu317fs Single submitter ZEB1-related disorder
  • p.Leu596fs Single submitter ZEB1-related disorder
  • p.Phe201fs Single submitter ZEB1-related disorder
  • p.Pro483fs Single submitter posterior polymorphous corneal dystrophy 3
  • p.Ser115Ter Single submitter ZEB1-related disorder
  • p.Ser279fs Single submitter corneal dystrophy, Fuchs endothelial, 6
  • p.Ser760fs Single submitter ZEB1-related disorder
  • p.Tyr208Ter Single submitter posterior polymorphous corneal dystrophy
  • p.Tyr284Ter Single submitter ZEB1-related disorder

Conflicting classifications of pathogenicity 5

Benign 13

Benign/Likely benign 6

Likely benign 27

Uncertain significance 127