Sugi Variant

Sugi Variant/WDR37

WDR37 — 139 ClinVar variants

All ClinVar germline WDR37 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

4 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 2 Benign · 2 Benign/Likely benign · 40 Likely benign · 84 Uncertain significance

Full WDR37 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 2

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 33

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

All WDR37 variants

Pathogenic/Likely pathogenic 4

Likely pathogenic 5

  • c.727-27_727-24del Multiple submitters neurooculocardiogenitourinary syndrome
  • p.Ser136Cys Multiple submitters neurooculocardiogenitourinary syndrome
  • p.Arg67fs Single submitter neurooculocardiogenitourinary syndrome
  • p.Asp260Asn Single submitter neurooculocardiogenitourinary syndrome ⚠
  • p.Ser129Cys Single submitter Dysmorphism

Conflicting classifications of pathogenicity 2

Benign 2

Benign/Likely benign 2

Likely benign 40

Uncertain significance 84