BOLA1 — 24 ClinVar variants
All ClinVar germline BOLA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
24 Uncertain significance
Full BOLA1 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BOLA1 p.Ala103Val Uncertain significance Single submitter
- BOLA1 p.Glu65Asp Uncertain significance Single submitter
- BOLA1 p.Gly79Arg Uncertain significance Single submitter
- BOLA1 p.His86Gln Uncertain significance Single submitter
- BOLA1 p.Leu83Gln Uncertain significance Single submitter
- BOLA1 p.Met13Ile Uncertain significance Single submitter
- BOLA1 p.Pro46Ser Uncertain significance Single submitter
- BOLA1 p.Ser55Arg Uncertain significance Single submitter
- BOLA1 p.Val60Asp Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- BOLA1 p.Ala108Thr Uncertain significance Single submitter
- BOLA1 p.Ala91Val Uncertain significance Single submitter
- BOLA1 p.Arg5Leu Uncertain significance Single submitter
- BOLA1 p.Arg69Leu Uncertain significance Single submitter
- BOLA1 p.Gln119His Uncertain significance Single submitter
- BOLA1 p.Glu95Lys Uncertain significance Single submitter
- BOLA1 p.Gly30Ser Uncertain significance Single submitter
- BOLA1 p.Gly79Val Uncertain significance Single submitter
- BOLA1 p.Gly99Val Uncertain significance Single submitter
- BOLA1 p.Pro100Ser Uncertain significance Single submitter
- BOLA1 p.Pro31Leu Uncertain significance Single submitter
- BOLA1 p.Ser26Cys Uncertain significance Single submitter
- BOLA1 p.Ser45Ile Uncertain significance Single submitter
- BOLA1 p.Ser74Gly Uncertain significance Single submitter
- BOLA1 p.Val72Leu Uncertain significance Single submitter
All BOLA1 variants
Uncertain significance 24
- p.Ala103Val Single submitter ⚠
- p.Ala108Thr Single submitter ⚠
- p.Ala91Val Single submitter ⚠
- p.Arg5Leu Single submitter ⚠
- p.Arg69Leu Single submitter ⚠
- p.Gln119His Single submitter ⚠
- p.Glu65Asp Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly79Arg Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.Gly99Val Single submitter ⚠
- p.His86Gln Single submitter ⚠
- p.Leu83Gln Single submitter ⚠
- p.Met13Ile Single submitter ⚠
- p.Pro100Ser Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Ser26Cys Single submitter ⚠
- p.Ser45Ile Single submitter ⚠
- p.Ser55Arg Single submitter ⚠
- p.Ser74Gly Single submitter ⚠
- p.Val60Asp Single submitter ⚠
- p.Val72Leu Single submitter ⚠