BEX2 — 31 ClinVar variants
All ClinVar germline BEX2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
2 Benign · 2 Likely benign · 27 Uncertain significance
Full BEX2 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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEX2 p.Arg53Ser Uncertain significance Single submitter
- BEX2 p.Arg55Gly Uncertain significance Single submitter
- BEX2 p.Arg59Gly Uncertain significance Single submitter
- BEX2 p.Asn18Lys Uncertain significance Single submitter
- BEX2 p.Asn52Thr Uncertain significance Single submitter
- BEX2 p.Asp25Gly Uncertain significance Single submitter
- BEX2 p.Glu6Lys Uncertain significance Single submitter
- BEX2 p.His118Arg Uncertain significance Single submitter
- BEX2 p.Ile69Thr Uncertain significance Single submitter
- BEX2 p.Met85Val Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BEX2 p.Arg109Trp Uncertain significance Single submitter
- BEX2 p.Arg53Cys Uncertain significance Single submitter
- BEX2 p.Arg53His Uncertain significance Single submitter
- BEX2 p.Arg57Cys Uncertain significance Single submitter
- BEX2 p.Arg7Gly Uncertain significance Single submitter
- BEX2 p.Asp68His Uncertain significance Single submitter
- BEX2 p.Glu83Asp Uncertain significance Single submitter
- BEX2 p.Leu126Pro Uncertain significance Single submitter
- BEX2 p.Met127Ile Uncertain significance Single submitter
All BEX2 variants
Benign 2
- p.Asn32Asp Multiple submitters
- c.-65G>A No assertion criteria Abnormality of neuronal migration
Likely benign 2
- c.-7A>G Single submitter
- p.Tyr65Cys Single submitter
Uncertain significance 27
- c.-12G>A Single submitter
- c.-48C>G Single submitter
- c.-60G>A Single submitter
- c.-62G>A Single submitter
- c.-72G>A Single submitter
- c.-75G>A Single submitter
- c.-75G>C Single submitter
- c.-9C>A Single submitter
- p.Arg109Trp Single submitter ⚠
- p.Arg53Cys Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Arg53Ser Single submitter ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Arg7Gly Single submitter ⚠
- p.Asn18Lys Single submitter ⚠
- p.Asn52Thr Single submitter ⚠
- p.Asp25Gly Single submitter ⚠
- p.Asp68His Single submitter ⚠
- p.Glu6Lys Single submitter ⚠
- p.Glu83Asp Single submitter ⚠
- p.His118Arg Single submitter ⚠
- p.Ile69Thr Single submitter ⚠
- p.Leu126Pro Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Met85Val Single submitter ⚠