BEX4 — 18 ClinVar variants
All ClinVar germline BEX4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Likely benign · 16 Uncertain significance
Full BEX4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BEX4 p.Ala65Val Uncertain significance Single submitter
- BEX4 p.Arg104His Uncertain significance Single submitter
- BEX4 p.Arg104Ser Uncertain significance Single submitter
- BEX4 p.Arg63Gln Uncertain significance Single submitter
- BEX4 p.Asn112His Uncertain significance Single submitter
- BEX4 p.Asn11Ser Uncertain significance Single submitter
- BEX4 p.Gly23Glu Uncertain significance Single submitter
- BEX4 p.Gly24Arg Uncertain significance Single submitter
- BEX4 p.His70Tyr Uncertain significance Single submitter
- BEX4 p.Lys4Glu Uncertain significance Single submitter
- BEX4 p.Phe105Val Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BEX4 p.Arg52Leu Likely benign Single submitter
- BEX4 p.Arg52Trp Uncertain significance Single submitter
- BEX4 p.Arg54Gln Uncertain significance Single submitter
- BEX4 p.His113Asp Uncertain significance Single submitter
- BEX4 p.Met87Thr Uncertain significance Single submitter
- BEX4 p.Ser3Phe Uncertain significance Single submitter
All BEX4 variants
Likely benign 2
- p.Arg52Leu Single submitter ⚠
- p.Gln98= Single submitter
Uncertain significance 16
- p.Ala65Val Single submitter ⚠
- p.Arg104His Single submitter ⚠
- p.Arg104Ser Single submitter ⚠
- p.Arg52Trp Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Asn112His Single submitter ⚠
- p.Asn11Ser Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.His113Asp Single submitter ⚠
- p.His70Tyr Single submitter ⚠
- p.Lys4Glu Single submitter ⚠
- p.Met87Thr Single submitter ⚠
- p.Phe105Val Single submitter ⚠
- p.Ser3Phe Single submitter ⚠