BEX1 — 21 ClinVar variants
All ClinVar germline BEX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Conflicting · 20 Uncertain significance
Full BEX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEX1 p.Ala17Asp Uncertain significance Single submitter
- BEX1 p.Arg50His Uncertain significance Single submitter
- BEX1 p.Arg54His Uncertain significance Single submitter
- BEX1 p.Arg84Lys Uncertain significance Single submitter
- BEX1 p.Asn10Asp Uncertain significance Single submitter
- BEX1 p.Asn49Asp Uncertain significance Single submitter
- BEX1 p.Cys44Gly Uncertain significance Single submitter
- BEX1 p.Gln61Glu Uncertain significance Single submitter
- BEX1 p.Glu32Gly Uncertain significance Single submitter
- BEX1 p.Gly31Glu Uncertain significance Single submitter
- BEX1 p.His114Pro Uncertain significance Single submitter
- BEX1 p.Leu60Val Uncertain significance Single submitter
- BEX1 p.Leu70Phe Uncertain significance Single submitter
- BEX1 p.Pro37Leu Uncertain significance Single submitter
- BEX1 p.Pro58Ser Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All BEX1 variants
Conflicting classifications of pathogenicity 1
- p.Ala35Val Single submitter ⚠
Uncertain significance 20
- p.Ala17Asp Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg50His Single submitter ⚠
- p.Arg54Cys Single submitter ⚠
- p.Arg54His Single submitter ⚠
- p.Arg84Lys Single submitter ⚠
- p.Asn10Asp Single submitter ⚠
- p.Asn16Asp Single submitter ⚠
- p.Asn49Asp Single submitter ⚠
- p.Cys44Gly Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Glu32Gly Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Gly31Glu Single submitter ⚠
- p.His114Pro Single submitter ⚠
- p.Leu60Val Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Leu70Pro Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro58Ser Single submitter ⚠