Sugi Variant

Sugi Variant/WDR26

WDR26 — 329 ClinVar variants

All ClinVar germline WDR26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →

46 Pathogenic · 1 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 9 Conflicting · 5 Benign · 3 Benign/Likely benign · 58 Likely benign · 180 Uncertain significance

Full WDR26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 154

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 5

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

Predictors lean, ClinVar uncertain 107

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

Predictors split 39

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

All WDR26 variants

Pathogenic 46

Pathogenic/Likely pathogenic 1

  • p.Asp735Gly Multiple submitters Skraban-Deardorff syndrome

Likely pathogenic 27

Conflicting classifications of pathogenicity 9

Benign 5

Benign/Likely benign 3

  • p.Gly125del Multiple submitters Skraban-Deardorff syndrome
  • p.His545= Multiple submitters Skraban-Deardorff syndrome
  • p.Ser149= Multiple submitters

Likely benign 58

Uncertain significance 180