BSX — 28 ClinVar variants
All ClinVar germline BSX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
3 Benign · 1 Likely benign · 24 Uncertain significance
Full BSX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BSX p.Ala66Thr Uncertain significance Single submitter
- BSX p.Arg133Leu Uncertain significance Single submitter
- BSX p.Asp39Glu Uncertain significance Single submitter
- BSX p.Asp77Asn Uncertain significance Single submitter
- BSX p.Gln168Pro Uncertain significance Single submitter
- BSX p.Glu199Lys Uncertain significance Single submitter
- BSX p.Leu204Pro Uncertain significance Single submitter
- BSX p.Leu3Phe Uncertain significance Single submitter
- BSX p.Leu45Pro Uncertain significance Single submitter
- BSX p.Phe158Leu Uncertain significance Single submitter
- BSX p.Pro11Leu Uncertain significance Single submitter
- BSX p.Pro189Arg Uncertain significance Single submitter
- BSX p.Pro208Thr Uncertain significance Single submitter
- BSX p.Val232Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- BSX p.Arg190Cys Uncertain significance Single submitter
- BSX p.Asp174Asn Uncertain significance Single submitter
- BSX p.Asp216Tyr Uncertain significance Single submitter
- BSX p.Asp219Gly Uncertain significance Single submitter
- BSX p.Glu223Gln Uncertain significance Single submitter
- BSX p.Phe41Leu Uncertain significance Single submitter
- BSX p.Pro179Leu Uncertain significance Single submitter
- BSX p.Pro57His Uncertain significance Single submitter
- BSX p.Pro57Leu Uncertain significance Single submitter
- BSX p.Ser184Asn Uncertain significance Single submitter
All BSX variants
Benign 3
- p.His231Gln Multiple submitters
- p.Ser150= Multiple submitters
- p.Pro230= Single submitter
Likely benign 1
- p.Glu223= Single submitter
Uncertain significance 24
- p.Ala66Thr Single submitter ⚠
- p.Arg133Leu Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp216Tyr Single submitter ⚠
- p.Asp219Gly Single submitter ⚠
- p.Asp39Glu Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Gln168Pro Single submitter ⚠
- p.Glu199Lys Single submitter ⚠
- p.Glu223Gln Single submitter ⚠
- p.Leu204Pro Single submitter ⚠
- p.Leu3Phe Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Phe158Leu Single submitter ⚠
- p.Phe41Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro179Leu Single submitter ⚠
- p.Pro189Arg Single submitter ⚠
- p.Pro208Thr Single submitter ⚠
- p.Pro57His Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser184Asn Single submitter ⚠
- p.Val232Leu Single submitter ⚠