Sugi Variant

Sugi Variant/ZEB2

ZEB2 — 1576 ClinVar variants

All ClinVar germline ZEB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 575 flagged for review →

283 Pathogenic · 10 Pathogenic/Likely pathogenic · 82 Likely pathogenic · 104 Conflicting · 75 Benign · 61 Benign/Likely benign · 424 Likely benign · 537 Uncertain significance

Full ZEB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 575

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 68

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 355

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 355

Predictors split 148

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

All ZEB2 variants

Pathogenic 283

Pathogenic/Likely pathogenic 10

  • c.73+2dup Multiple submitters Mowat-Wilson syndrome
  • c.73+2T>C Multiple submitters Mowat-Wilson syndrome
  • p.Arg1016Ter Multiple submitters ZEB2-related disorder
  • p.Arg302Ter Multiple submitters ZEB2-related disorder
  • p.Asn607fs Multiple submitters Mowat-Wilson syndrome
  • p.Gln1072Ter Multiple submitters Mowat-Wilson syndrome
  • p.His1049Pro Multiple submitters ZEB2-related disorder
  • p.His300Arg Multiple submitters Mowat-Wilson syndrome
  • p.His300Tyr Multiple submitters ZEB2-related disorder
  • p.Tyr293fs Multiple submitters Mowat-Wilson syndrome

Likely pathogenic 82

Conflicting classifications of pathogenicity 104

Benign 75

Benign/Likely benign 61

  • c.2886+14T>C Multiple submitters Mowat-Wilson syndrome
  • c.2887-4G>A Multiple submitters Inborn genetic diseases
  • c.3067+6A>T Multiple submitters Mowat-Wilson syndrome
  • c.403+18C>T Multiple submitters Mowat-Wilson syndrome
  • c.593-27CT[5] Multiple submitters Mowat-Wilson syndrome
  • c.73+6A>C Multiple submitters Mowat-Wilson syndrome
  • c.807+3G>A Multiple submitters Mowat-Wilson syndrome
  • c.807+3G>C Multiple submitters Mowat-Wilson syndrome
  • c.807+8G>A Multiple submitters Mowat-Wilson syndrome
  • p.Ala47Ser Multiple submitters Inborn genetic diseases
  • p.Ala480Ser Multiple submitters Inborn genetic diseases
  • p.Ala612= Multiple submitters Mowat-Wilson syndrome
  • p.Arg253= Multiple submitters Inborn genetic diseases
  • p.Arg921Gln Multiple submitters Inborn genetic diseases
  • p.Asn132Ser Multiple submitters Inborn genetic diseases
  • p.Asn787= Multiple submitters Inborn genetic diseases
  • p.Asn847= Multiple submitters Mowat-Wilson syndrome
  • p.Asn99= Multiple submitters Mowat-Wilson syndrome
  • p.Asp1157= Multiple submitters Inborn genetic diseases
  • p.Asp50= Multiple submitters Inborn genetic diseases
  • p.Glu154= Multiple submitters Inborn genetic diseases
  • p.Glu668Asp Multiple submitters Mowat-Wilson syndrome
  • p.Gly266= Multiple submitters Inborn genetic diseases
  • p.Gly512Ser Multiple submitters Inborn genetic diseases
  • p.His234= Multiple submitters Inborn genetic diseases
  • p.His407= Multiple submitters Inborn genetic diseases
  • p.His846Gln Multiple submitters Mowat-Wilson syndrome
  • p.Ile102Phe Multiple submitters Inborn genetic diseases
  • p.Ile163= Multiple submitters Inborn genetic diseases
  • p.Ile739Val Multiple submitters Inborn genetic diseases
  • p.Ile744Val Multiple submitters Inborn genetic diseases
  • p.Ile991= Multiple submitters Inborn genetic diseases
  • p.Leu256= Multiple submitters Inborn genetic diseases
  • p.Leu387= Multiple submitters Inborn genetic diseases
  • p.Leu426Ile Multiple submitters Inborn genetic diseases
  • p.Leu614= Multiple submitters Inborn genetic diseases
  • p.Lys867= Multiple submitters Inborn genetic diseases
  • p.Met1214Val Multiple submitters Inborn genetic diseases
  • p.Met436Val Multiple submitters Inborn genetic diseases
  • p.Met443Val Multiple submitters Mowat-Wilson syndrome
  • p.Met736Val Multiple submitters Inborn genetic diseases
  • p.Met935Thr Multiple submitters Mowat-Wilson syndrome ⚠
  • p.Met998Thr Multiple submitters Mowat-Wilson syndrome ⚠
  • p.Pro446Ser Multiple submitters Inborn genetic diseases
  • p.Pro494Ser Multiple submitters Inborn genetic diseases
  • p.Pro4Ala Multiple submitters Inborn genetic diseases
  • p.Pro616= Multiple submitters Mowat-Wilson syndrome
  • p.Pro714= Multiple submitters Mowat-Wilson syndrome
  • p.Pro714Leu Multiple submitters Inborn genetic diseases
  • p.Pro735= Multiple submitters Inborn genetic diseases
  • p.Ser1067= Multiple submitters Mowat-Wilson syndrome
  • p.Ser327= Multiple submitters Inborn genetic diseases
  • p.Ser750Gly Multiple submitters Mowat-Wilson syndrome
  • p.Ser819= Multiple submitters Mowat-Wilson syndrome
  • p.Thr529= Multiple submitters Mowat-Wilson syndrome
  • p.Thr579Ala Multiple submitters Inborn genetic diseases
  • p.Thr752Arg Multiple submitters Inborn genetic diseases
  • p.Thr752Met Multiple submitters Inborn genetic diseases
  • p.Tyr310= Multiple submitters Inborn genetic diseases
  • p.Val511= Multiple submitters Mowat-Wilson syndrome
  • p.Val681= Multiple submitters Mowat-Wilson syndrome

Likely benign 424

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 537

Showing the top 300 by review status; the full set is in the sitemap.