WDR5 — 40 ClinVar variants
All ClinVar germline WDR5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 4 Likely benign · 31 Uncertain significance
Full WDR5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- WDR5 p.Ala36Val Uncertain significance Multiple submitters
- WDR5 p.Cys121Trp Uncertain significance Single submitter
- WDR5 p.Glu11Asp Uncertain significance Single submitter
- WDR5 p.Gly226Asp Uncertain significance Single submitter
- WDR5 p.Ile262Val Uncertain significance Single submitter
- WDR5 p.Ile327Val Uncertain significance Single submitter
- WDR5 p.Leu111Ser Uncertain significance Single submitter
- WDR5 p.Lys32Arg Uncertain significance Single submitter
- WDR5 p.Lys78Ile Uncertain significance Single submitter
- WDR5 p.Ser148Cys Uncertain significance Single submitter
- WDR5 p.Ser175Leu Uncertain significance Single submitter
- WDR5 p.Ser218Ala Uncertain significance Single submitter
- WDR5 p.Thr10Ser Uncertain significance Single submitter
- WDR5 p.Thr160Ile Uncertain significance Single submitter
- WDR5 p.Thr18Pro Uncertain significance Single submitter
- WDR5 p.Thr24Ile Uncertain significance Single submitter
- WDR5 p.Tyr131Asp Uncertain significance Single submitter
- WDR5 p.Val153Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- WDR5 p.Ala2Val Uncertain significance Single submitter
- WDR5 p.Cys163Phe Uncertain significance Single submitter
- WDR5 p.Leu238Met Uncertain significance Single submitter
- WDR5 p.Lys165Asn Uncertain significance Single submitter
- WDR5 p.Lys227Arg Uncertain significance Single submitter
- WDR5 p.Lys325Arg Uncertain significance Single submitter
- WDR5 p.Ser129Asn Uncertain significance Single submitter
- WDR5 p.Ser22Cys Uncertain significance Single submitter
- WDR5 p.Thr269Asn Uncertain significance Single submitter
- WDR5 p.Thr3Met Uncertain significance Single submitter
All WDR5 variants
Pathogenic 2
- p.Thr208Met Multiple submitters WDR5-related disorders
- p.Arg196Cys Single submitter
Likely pathogenic 2
- p.Ser171Leu Single submitter
- p.Trp59Arg Single submitter WDR5-related neurodevelopmental delay
Conflicting classifications of pathogenicity 1
- p.Val93Ile Single submitter ⚠
Likely benign 4
Uncertain significance 31
- p.Ala36Val Multiple submitters ⚠
- c.354+2dup Single submitter neurodevelopmental disorder
- c.*1943_*1944del Single submitter congenital heart disease
- p.Ala2Val Single submitter ⚠
- p.Ala74Thr Single submitter
- p.Cys121Trp Single submitter ⚠
- p.Cys163Phe Single submitter ⚠
- p.Glu11Asp Single submitter ⚠
- p.Gly226Asp Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Ile327Val Single submitter ⚠
- p.Leu111Ser Single submitter ⚠
- p.Leu238Met Single submitter ⚠
- p.Lys165Asn Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Lys325Arg Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys78Ile Single submitter ⚠
- p.Ser129Asn Single submitter ⚠
- p.Ser148Cys Single submitter ⚠
- p.Ser175Leu Single submitter ⚠
- p.Ser218Ala Single submitter ⚠
- p.Ser22Cys Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Thr160Ile Single submitter ⚠
- p.Thr18Pro Single submitter ⚠
- p.Thr24Ile Single submitter ⚠
- p.Thr269Asn Single submitter ⚠
- p.Thr3Met Single submitter ⚠
- p.Tyr131Asp Single submitter ⚠
- p.Val153Leu Single submitter ⚠