Sugi Variant

Sugi Variant/WDR1

WDR1 — 554 ClinVar variants

All ClinVar germline WDR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

7 Pathogenic · 9 Conflicting · 12 Benign · 20 Benign/Likely benign · 333 Likely benign · 173 Uncertain significance

Full WDR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 158

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 5

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

Predictors lean, ClinVar uncertain 112

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 WDR1 variants

Pathogenic 7

  • p.Asp572Val No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome ⚠
  • p.Gly121Arg No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome
  • p.His145Gln No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome ⚠
  • p.Leu286Val No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome ⚠
  • p.Leu293Phe No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome ⚠
  • p.Lys7del No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome
  • p.Val424Met No assertion criteria periodic fever, immunodeficiency, and thrombocytopenia syndrome ⚠

Conflicting classifications of pathogenicity 9

Benign 12

Benign/Likely benign 20

Likely benign 333

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

Uncertain significance 173