BEX5 — 12 ClinVar variants
All ClinVar germline BEX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full BEX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEX5 p.Asn52Ile Uncertain significance Single submitter
- BEX5 p.Asp56Gly Uncertain significance Single submitter
- BEX5 p.Glu48Asp Uncertain significance Single submitter
- BEX5 p.Gly47Glu Uncertain significance Single submitter
- BEX5 p.His101Pro Uncertain significance Single submitter
- BEX5 p.Val55Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BEX5 p.Arg70Gln Uncertain significance Single submitter
- BEX5 p.Arg88Ser Uncertain significance Single submitter
- BEX5 p.Arg92Cys Uncertain significance Single submitter
- BEX5 p.Gly63Arg Uncertain significance Single submitter
- BEX5 p.Pro15Ser Uncertain significance Single submitter
- BEX5 p.Pro98Ser Uncertain significance Single submitter
All BEX5 variants
Uncertain significance 12
- p.Arg70Gln Single submitter ⚠
- p.Arg88Ser Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Asn52Ile Single submitter ⚠
- p.Asp56Gly Single submitter ⚠
- p.Glu48Asp Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.Gly63Arg Single submitter ⚠
- p.His101Pro Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro98Ser Single submitter ⚠
- p.Val55Gly Single submitter ⚠