BMX — 59 ClinVar variants
All ClinVar germline BMX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
4 Benign · 5 Likely benign · 50 Uncertain significance
Full BMX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMX p.Ala155Val Uncertain significance Single submitter
- BMX p.Ala214Thr Uncertain significance Single submitter
- BMX p.Ala396Thr Uncertain significance Single submitter
- BMX p.Arg169Lys Uncertain significance Single submitter
- BMX p.Arg175Trp Uncertain significance Single submitter
- BMX p.Arg633Gln Uncertain significance Single submitter
- BMX p.Arg633Trp Uncertain significance Single submitter
- BMX p.Cys133Trp Uncertain significance Single submitter
- BMX p.Cys62Arg Uncertain significance Single submitter
- BMX p.Glu158Lys Uncertain significance Single submitter
- BMX p.Glu604Gly Uncertain significance Single submitter
- BMX p.Glu651Lys Uncertain significance Single submitter
- BMX p.Gly128Trp Uncertain significance Single submitter
- BMX p.Gly142Glu Uncertain significance Single submitter
- BMX p.Gly571Arg Uncertain significance Single submitter
- BMX p.His115Asn Uncertain significance Single submitter
- BMX p.His115Tyr Uncertain significance Single submitter
- BMX p.Ile275Asn Uncertain significance Single submitter
- BMX p.Leu423Pro Uncertain significance Single submitter
- BMX p.Leu513Val Uncertain significance Single submitter
- BMX p.Lys221Arg Uncertain significance Single submitter
- BMX p.Lys264Glu Uncertain significance Single submitter
- BMX p.Lys474Arg Uncertain significance Single submitter
- BMX p.Met524Val Uncertain significance Single submitter
- BMX p.Pro228Thr Uncertain significance Single submitter
- BMX p.Pro400Ser Uncertain significance Single submitter
- BMX p.Pro510His Uncertain significance Single submitter
- BMX p.Ser187Pro Uncertain significance Single submitter
- BMX p.Ser212Arg Uncertain significance Single submitter
- BMX p.Ser468Thr Uncertain significance Single submitter
- BMX p.Ser493Ile Uncertain significance Single submitter
- BMX p.Thr189Ala Uncertain significance Single submitter
- BMX p.Thr345Ala Uncertain significance Single submitter
- BMX p.Thr72Met Uncertain significance Single submitter
- BMX p.Tyr294Phe Uncertain significance Single submitter
- BMX p.Tyr491Cys Uncertain significance Single submitter
- BMX p.Tyr500Phe Uncertain significance Single submitter
- BMX p.Val118Leu Uncertain significance Single submitter
- BMX p.Val444Ile Uncertain significance Single submitter
- BMX p.Val621Leu Uncertain significance Single submitter
- BMX p.Val74Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BMX p.Ala362Val Uncertain significance Single submitter
- BMX p.Glu528Asp Uncertain significance Single submitter
- BMX p.Leu131Arg Uncertain significance Single submitter
- BMX p.Leu508Phe Uncertain significance Single submitter
- BMX p.Phe457Leu Uncertain significance Single submitter
- BMX p.Pro470Ala Uncertain significance Single submitter
- BMX p.Ser302Ala Uncertain significance Single submitter
- BMX p.Val605Met Uncertain significance Single submitter
- BMX p.Val621Ala Uncertain significance Single submitter
All BMX variants
Benign 4
- p.Ala214Val Multiple submitters
- c.1796-9G>C Single submitter
- p.His534= Single submitter
- p.Leu88= Single submitter
Likely benign 5
- c.1611+6C>A Single submitter
- p.Arg414= Single submitter
- p.Asn340= Single submitter
- p.Lys181Arg Single submitter
- p.Ser212Thr Single submitter
Uncertain significance 50
- p.Ala155Val Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala362Val Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Arg169Lys Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg633Gln Single submitter ⚠
- p.Arg633Trp Single submitter ⚠
- p.Cys133Trp Single submitter ⚠
- p.Cys62Arg Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu528Asp Single submitter ⚠
- p.Glu604Gly Single submitter ⚠
- p.Glu651Lys Single submitter ⚠
- p.Gly128Trp Single submitter ⚠
- p.Gly142Glu Single submitter ⚠
- p.Gly571Arg Single submitter ⚠
- p.His115Asn Single submitter ⚠
- p.His115Tyr Single submitter ⚠
- p.Ile275Asn Single submitter ⚠
- p.Leu131Arg Single submitter ⚠
- p.Leu423Pro Single submitter ⚠
- p.Leu508Phe Single submitter ⚠
- p.Leu513Val Single submitter ⚠
- p.Lys221Arg Single submitter ⚠
- p.Lys264Glu Single submitter ⚠
- p.Lys474Arg Single submitter ⚠
- p.Met524Val Single submitter ⚠
- p.Phe457Leu Single submitter ⚠
- p.Pro228Thr Single submitter ⚠
- p.Pro400Ser Single submitter ⚠
- p.Pro470Ala Single submitter ⚠
- p.Pro510His Single submitter ⚠
- p.Ser187Pro Single submitter ⚠
- p.Ser212Arg Single submitter ⚠
- p.Ser302Ala Single submitter ⚠
- p.Ser468Thr Single submitter ⚠
- p.Ser493Ile Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Thr345Ala Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Tyr294Phe Single submitter ⚠
- p.Tyr491Cys Single submitter ⚠
- p.Tyr500Phe Single submitter ⚠
- p.Val118Leu Single submitter ⚠
- p.Val444Ile Single submitter ⚠
- p.Val605Met Single submitter ⚠
- p.Val621Ala Single submitter ⚠
- p.Val621Leu Single submitter ⚠
- p.Val74Ala Single submitter ⚠