Sugi Variant

Sugi Variant/WDR81

WDR81 — 690 ClinVar variants

All ClinVar germline WDR81 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

8 Pathogenic · 5 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 17 Conflicting · 30 Benign · 19 Benign/Likely benign · 167 Likely benign · 414 Uncertain significance

Full WDR81 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 404

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 agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 316

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 316

Predictors split 76

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

All WDR81 variants

Pathogenic 8

Pathogenic/Likely pathogenic 5

  • p.Arg1333Ter Multiple submitters cerebellar ataxia
  • p.Leu73fs Multiple submitters WDR81-related disorder
  • p.Pro856Leu Multiple submitters hydrocephalus, congenital, 3, with brain anomalies ⚠
  • p.Tyr1257Ter Multiple submitters cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
  • p.Tyr1281Ter Multiple submitters hydrocephalus, congenital, 3, with brain anomalies

Likely pathogenic 30

Conflicting classifications of pathogenicity 17

Benign 30

Benign/Likely benign 19

Likely benign 167

Uncertain significance 414

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