Sugi Variant

Sugi Variant/WDR11

WDR11 — 537 ClinVar variants

All ClinVar germline WDR11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 128 Benign · 11 Benign/Likely benign · 122 Likely benign · 248 Uncertain significance

Full WDR11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

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 7

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

Predictors lean, ClinVar uncertain 136

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

Predictors split 81

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

All WDR11 variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • c.3033_3036del Multiple submitters intellectual developmental disorder, autosomal recessive 78

Likely pathogenic 10

  • c.3292-1G>C Single submitter
  • c.352+1G>A Single submitter WDR11-related disorder
  • c.879+1G>T Single submitter hypogonadotropic hypogonadism 14 with or without anosmia
  • p.Arg956Ter Single submitter intellectual developmental disorder, autosomal recessive 78
  • p.Gln55fs Single submitter hypogonadotropic hypogonadism 14 with or without anosmia
  • p.Glu617Ter Single submitter hypogonadotropic hypogonadism 14 with or without anosmia
  • p.Leu583fs Single submitter intellectual developmental disorder, autosomal recessive 78
  • p.Ser1048fs Single submitter WDR11-related disorder
  • p.Asp1074fs No assertion criteria hypogonadotropic hypogonadism 14 with or without anosmia
  • p.Trp153Ter No assertion criteria hypogonadotropic hypogonadism 14 with or without anosmia

Conflicting classifications of pathogenicity 10

Benign 128

Benign/Likely benign 11

Likely benign 122

Uncertain significance 248