WSB2 — 38 ClinVar variants
All ClinVar germline WSB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Pathogenic · 3 Benign · 3 Likely benign · 31 Uncertain significance
Full WSB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- WSB2 p.Ala285Ser Uncertain significance Single submitter
- WSB2 p.Ala285Thr Uncertain significance Single submitter
- WSB2 p.Ala331Val Uncertain significance Single submitter
- WSB2 p.Arg113His Uncertain significance Single submitter
- WSB2 p.Arg233Trp Uncertain significance Single submitter
- WSB2 p.Arg402Lys Uncertain significance Single submitter
- WSB2 p.Arg80Trp Uncertain significance Single submitter
- WSB2 p.Asn262Ser Uncertain significance Single submitter
- WSB2 p.Gly79Glu Uncertain significance Single submitter
- WSB2 p.Gly96Ala Uncertain significance Single submitter
- WSB2 p.His356Tyr Uncertain significance Single submitter
- WSB2 p.Ile180Val Uncertain significance Single submitter
- WSB2 p.Ile391Val Uncertain significance Single submitter
- WSB2 p.Leu296Pro Uncertain significance Single submitter
- WSB2 p.Leu88Val Uncertain significance Single submitter
- WSB2 p.Met333Leu Uncertain significance Single submitter
- WSB2 p.Pro106His Uncertain significance Single submitter
- WSB2 p.Ser220Leu Uncertain significance Single submitter
- WSB2 p.Ser289Gly Uncertain significance Single submitter
- WSB2 p.Thr230Met Uncertain significance Single submitter
- WSB2 p.Thr361Arg Uncertain significance Single submitter
- WSB2 p.Thr77Met Uncertain significance Single submitter
- WSB2 p.Trp111Arg Uncertain significance Single submitter
- WSB2 p.Trp111Gly Uncertain significance Single submitter
- WSB2 p.Val291Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All WSB2 variants
Pathogenic 1
- p.Arg374Gln No assertion criteria Luo-Agrawal neurodevelopmental syndrome
Benign 3
- p.Asp246= Multiple submitters
- p.Asp4= Multiple submitters
- p.Thr162Ala Multiple submitters
Likely benign 3
- p.Ala216= Single submitter
- p.Asp120Asn Single submitter
- p.Pro249= Single submitter
Uncertain significance 31
- p.Lys396fs Multiple submitters WSB2-related disorder
- c.14-5C>G Single submitter WSB2-related disorder
- p.Ala285Ser Single submitter ⚠
- p.Ala285Thr Single submitter ⚠
- p.Ala331Val Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg402Lys Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Asn262Ser Single submitter ⚠
- p.Gln134fs Single submitter Luo-Agrawal neurodevelopmental syndrome
- p.Gly79Glu Single submitter ⚠
- p.Gly96Ala Single submitter ⚠
- p.His356Tyr Single submitter ⚠
- p.Ile180Val Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Leu296Pro Single submitter ⚠
- p.Leu88Val Single submitter ⚠
- p.Met333Leu Single submitter ⚠
- p.Met395Ile Single submitter ⚠
- p.Pro106His Single submitter ⚠
- p.Ser210Arg Single submitter ⚠
- p.Ser220Leu Single submitter ⚠
- p.Ser289Gly Single submitter ⚠
- p.Thr230Met Single submitter ⚠
- p.Thr361Arg Single submitter ⚠
- p.Thr77Met Single submitter ⚠
- p.Trp111Arg Single submitter ⚠
- p.Trp111Gly Single submitter ⚠
- p.Val243Ala Single submitter ⚠
- p.Val291Ile Single submitter ⚠