BZW1 — 28 ClinVar variants
All ClinVar germline BZW1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Likely benign · 27 Uncertain significance
Full BZW1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BZW1 p.Arg246Gln Uncertain significance Single submitter
- BZW1 p.Arg92His Uncertain significance Single submitter
- BZW1 p.Gln101Arg Uncertain significance Single submitter
- BZW1 p.Glu146Lys Uncertain significance Single submitter
- BZW1 p.Gly180Arg Uncertain significance Single submitter
- BZW1 p.Ile295Met Uncertain significance Single submitter
- BZW1 p.Leu47Met Uncertain significance Single submitter
- BZW1 p.Lys399Met Uncertain significance Single submitter
- BZW1 p.Met216Val Uncertain significance Single submitter
- BZW1 p.Met282Val Uncertain significance Single submitter
- BZW1 p.Pro290Ser Uncertain significance Single submitter
- BZW1 p.Thr230Ala Uncertain significance Single submitter
- BZW1 p.Thr30Ser Uncertain significance Single submitter
- BZW1 p.Thr333Ser Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All BZW1 variants
Likely benign 1
- c.-11+430C>G Single submitter
Uncertain significance 27
- c.-11+427G>T Single submitter
- c.-11+431C>T Single submitter
- c.-11+440C>T Single submitter
- c.-11+452C>T Single submitter
- c.-11+457G>T Single submitter
- c.-11+463G>C Single submitter
- c.-11+481C>T Single submitter
- c.-11+491C>T Single submitter
- p.Arg246Gln Single submitter ⚠
- p.Arg92His Single submitter ⚠
- p.Gln101Arg Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.His354Asp Single submitter ⚠
- p.Ile295Met Single submitter ⚠
- p.Leu47Met Single submitter ⚠
- p.Lys379Gln Single submitter ⚠
- p.Lys390Arg Single submitter ⚠
- p.Lys399Asn Single submitter ⚠
- p.Lys399Met Single submitter ⚠
- p.Met216Val Single submitter ⚠
- p.Met282Val Single submitter ⚠
- p.Pro290Ser Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr230Ala Single submitter ⚠
- p.Thr30Ser Single submitter ⚠
- p.Thr333Ser Single submitter ⚠