BGLAP — 14 ClinVar variants
All ClinVar germline BGLAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 13 Uncertain significance
Full BGLAP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 9
The independent predictors disagree with each other — read with care.
- BGLAP p.Ala23Val Uncertain significance Single submitter
- BGLAP p.Arg94Trp Uncertain significance Single submitter
- BGLAP p.Gly98Ser Uncertain significance Single submitter
- BGLAP p.Ile87Met Uncertain significance Single submitter
- BGLAP p.Leu15Phe Uncertain significance Single submitter
- BGLAP p.Phe36Ser Uncertain significance Single submitter
- BGLAP p.Pro60Ser Uncertain significance Single submitter
- BGLAP p.Pro78Leu Uncertain significance Single submitter
- BGLAP p.Ser30Tyr Uncertain significance Single submitter
All BGLAP variants
Likely benign 1
- p.Ile17= Single submitter
Uncertain significance 13
- p.Ala23Val Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Asp81Glu Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Gly27Ser Single submitter ⚠
- p.Gly88Ser Single submitter ⚠
- p.Gly98Ser Single submitter ⚠
- p.Ile87Met Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Phe36Ser Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Ser30Tyr Single submitter ⚠