BST1 — 60 ClinVar variants
All ClinVar germline BST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
4 Benign · 5 Likely benign · 51 Uncertain significance
Full BST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BST1 p.Ala120Thr Uncertain significance Single submitter
- BST1 p.Ala175Thr Uncertain significance Single submitter
- BST1 p.Ala313Val Uncertain significance Single submitter
- BST1 p.Ala73Gly Uncertain significance Single submitter
- BST1 p.Arg103Ser Uncertain significance Single submitter
- BST1 p.Arg124His Uncertain significance Single submitter
- BST1 p.Arg221Gln Uncertain significance Single submitter
- BST1 p.Arg291Gly Uncertain significance Single submitter
- BST1 p.Arg50Pro Uncertain significance Single submitter
- BST1 p.Asp131Asn Uncertain significance Single submitter
- BST1 p.Asp153Asn Uncertain significance Single submitter
- BST1 p.Gln290Pro Uncertain significance Single submitter
- BST1 p.Gln62Glu Uncertain significance Single submitter
- BST1 p.Gln62Leu Uncertain significance Single submitter
- BST1 p.Glu53Lys Uncertain significance Single submitter
- BST1 p.Gly185Arg Uncertain significance Single submitter
- BST1 p.Gly5Ala Uncertain significance Single submitter
- BST1 p.Ile305Val Uncertain significance Single submitter
- BST1 p.Leu48Pro Uncertain significance Single submitter
- BST1 p.Lys147Arg Uncertain significance Single submitter
- BST1 p.Pro128Ala Uncertain significance Single submitter
- BST1 p.Pro233Ser Uncertain significance Single submitter
- BST1 p.Ser118Thr Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- BST1 p.Gly239Arg Benign Multiple submitters
- BST1 p.Ala175Ser Uncertain significance Single submitter
- BST1 p.Ala27Val Uncertain significance Single submitter
- BST1 p.Ala2Thr Uncertain significance Single submitter
- BST1 p.Ala30Thr Uncertain significance Single submitter
- BST1 p.Ala73Asp Uncertain significance Single submitter
- BST1 p.Arg124Cys Benign Single submitter
- BST1 p.Arg125Cys Uncertain significance Single submitter
- BST1 p.Arg174Gly Uncertain significance Single submitter
- BST1 p.Arg31Pro Likely benign Single submitter
- BST1 p.Asn192Ser Uncertain significance Single submitter
- BST1 p.Asn213Lys Uncertain significance Single submitter
- BST1 p.Asn66Lys Uncertain significance Single submitter
- BST1 p.Gln17Lys Uncertain significance Single submitter
- BST1 p.Gly38Ser Uncertain significance Single submitter
- BST1 p.Leu15Gln Uncertain significance Single submitter
- BST1 p.Leu19Arg Uncertain significance Single submitter
- BST1 p.Leu20Phe Uncertain significance Single submitter
- BST1 p.Leu21Pro Uncertain significance Single submitter
- BST1 p.Met253Val Uncertain significance Single submitter
- BST1 p.Pro307Arg Uncertain significance Single submitter
- BST1 p.Pro60Ser Likely benign Single submitter
- BST1 p.Pro87His Uncertain significance Single submitter
- BST1 p.Pro87Leu Uncertain significance Single submitter
- BST1 p.Ser130Arg Uncertain significance Single submitter
- BST1 p.Ser184Pro Uncertain significance Single submitter
- BST1 p.Ser88Leu Uncertain significance Single submitter
- BST1 p.Ser9Trp Uncertain significance Single submitter
- BST1 p.Thr197Ile Uncertain significance Single submitter
- BST1 p.Tyr209Cys Uncertain significance Single submitter
- BST1 p.Tyr209His Uncertain significance Single submitter
- BST1 p.Val266Gly Uncertain significance Single submitter
All BST1 variants
Benign 4
- p.Arg145= Multiple submitters
- p.Gly239Arg Multiple submitters ⚠
- p.Ile101Val Multiple submitters
- p.Arg124Cys Single submitter ⚠
Likely benign 5
- p.Arg221= Single submitter
- p.Arg31Pro Single submitter ⚠
- p.Gly232Arg Single submitter
- p.Pro167Ala Single submitter
- p.Pro60Ser Single submitter ⚠
Uncertain significance 51
- p.Ala120Thr Single submitter ⚠
- p.Ala175Ser Single submitter ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Ala73Asp Single submitter ⚠
- p.Ala73Gly Single submitter ⚠
- p.Arg103Ser Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg291Gly Single submitter ⚠
- p.Arg50Pro Single submitter ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn213Lys Single submitter ⚠
- p.Asn66Lys Single submitter ⚠
- p.Asp131Asn Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Gln17Lys Single submitter ⚠
- p.Gln290Pro Single submitter ⚠
- p.Gln62Glu Single submitter ⚠
- p.Gln62Leu Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Gly185Arg Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.Gly5Ala Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Leu15Gln Single submitter ⚠
- p.Leu19Arg Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu48Pro Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Met253Val Single submitter ⚠
- p.Pro128Ala Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Pro307Arg Single submitter ⚠
- p.Pro87His Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser118Thr Single submitter ⚠
- p.Ser130Arg Single submitter ⚠
- p.Ser184Pro Single submitter ⚠
- p.Ser88Leu Single submitter ⚠
- p.Ser9Trp Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Tyr209Cys Single submitter ⚠
- p.Tyr209His Single submitter ⚠
- p.Val266Gly Single submitter ⚠