OSBP — 47 ClinVar variants
All ClinVar germline OSBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Pathogenic · 3 Benign · 4 Likely benign · 39 Uncertain significance
Full OSBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OSBP p.Ala271Ser Uncertain significance Single submitter
- OSBP p.Ala90Ser Uncertain significance Single submitter
- OSBP p.Arg266Gly Uncertain significance Single submitter
- OSBP p.Arg376His Uncertain significance Single submitter
- OSBP p.Arg462Gln Uncertain significance Single submitter
- OSBP p.Arg621Trp Uncertain significance Single submitter
- OSBP p.Asn140Ser Uncertain significance Single submitter
- OSBP p.Asp607Glu Uncertain significance Single submitter
- OSBP p.Asp665Asn Uncertain significance Single submitter
- OSBP p.Glu197Gly Uncertain significance Single submitter
- OSBP p.Glu356Gly Uncertain significance Single submitter
- OSBP p.Glu364Asp Uncertain significance Single submitter
- OSBP p.Glu630Asp Uncertain significance Single submitter
- OSBP p.Glu672Asp Uncertain significance Single submitter
- OSBP p.Gly11Ala Uncertain significance Single submitter
- OSBP p.Gly88Asp Uncertain significance Single submitter
- OSBP p.His317Tyr Uncertain significance Single submitter
- OSBP p.His571Tyr Uncertain significance Single submitter
- OSBP p.Ile150Val Uncertain significance Single submitter
- OSBP p.Ile255Thr Uncertain significance Single submitter
- OSBP p.Lys217Glu Uncertain significance Single submitter
- OSBP p.Lys347Arg Uncertain significance Single submitter
- OSBP p.Pro329Leu Uncertain significance Single submitter
- OSBP p.Ser269Cys Uncertain significance Single submitter
- OSBP p.Ser89Pro Uncertain significance Single submitter
- OSBP p.Thr580Ile Uncertain significance Single submitter
- OSBP p.Val601Leu Uncertain significance Single submitter
- OSBP p.Val678Phe Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- OSBP p.Arg171His Uncertain significance Single submitter
- OSBP p.Arg677Trp Uncertain significance Single submitter
- OSBP p.Cys474Ser Uncertain significance Single submitter
- OSBP p.Gln291Glu Uncertain significance Single submitter
- OSBP p.Gln295Arg Uncertain significance Single submitter
- OSBP p.Glu467Gly Uncertain significance Single submitter
- OSBP p.Glu597Lys Uncertain significance Single submitter
- OSBP p.Glu648Ala Uncertain significance Single submitter
- OSBP p.Pro685Arg Uncertain significance Single submitter
- OSBP p.Thr538Ile Uncertain significance Single submitter
All OSBP variants
Pathogenic 1
- p.Arg507Ter No assertion criteria Short stature
Benign 3
- c.1557+10C>T Multiple submitters
- p.Glu189= Multiple submitters
- c.1312-4del Single submitter
Likely benign 4
- p.Asn335Ser Single submitter
- p.Ser351= Single submitter
- p.Ala312= No assertion criteria OSBP-related disorder
- p.Gly132= No assertion criteria OSBP-related disorder
Uncertain significance 39
- p.Ala271Ser Single submitter ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg266Gly Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg462Gln Single submitter ⚠
- p.Arg621Trp Single submitter ⚠
- p.Arg677Trp Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asp607Glu Single submitter ⚠
- p.Asp665Asn Single submitter ⚠
- p.Cys474Ser Single submitter ⚠
- p.Gln291Glu Single submitter ⚠
- p.Gln295Arg Single submitter ⚠
- p.Gln300Arg Single submitter
- p.Glu197Gly Single submitter ⚠
- p.Glu356Gly Single submitter ⚠
- p.Glu364Asp Single submitter ⚠
- p.Glu467Gly Single submitter ⚠
- p.Glu597Lys Single submitter ⚠
- p.Glu630Asp Single submitter ⚠
- p.Glu648Ala Single submitter ⚠
- p.Glu672Asp Single submitter ⚠
- p.Gly11Ala Single submitter ⚠
- p.Gly88Asp Single submitter ⚠
- p.His317Tyr Single submitter ⚠
- p.His571Tyr Single submitter ⚠
- p.Ile150Val Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Lys217Glu Single submitter ⚠
- p.Lys347Arg Single submitter ⚠
- p.Pro329Leu Single submitter ⚠
- p.Pro685Arg Single submitter ⚠
- p.Ser269Cys Single submitter ⚠
- p.Ser89Pro Single submitter ⚠
- p.Thr538Ile Single submitter ⚠
- p.Thr580Ile Single submitter ⚠
- p.Val601Leu Single submitter ⚠
- p.Val678Phe Single submitter ⚠