OSBP2 — 54 ClinVar variants
All ClinVar germline OSBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
5 Benign · 4 Likely benign · 45 Uncertain significance
Full OSBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OSBP2 p.Ala134Thr Uncertain significance Single submitter
- OSBP2 p.Ala158Gly Uncertain significance Single submitter
- OSBP2 p.Ala175Gly Uncertain significance Single submitter
- OSBP2 p.Ala233Thr Uncertain significance Single submitter
- OSBP2 p.Ala293Ser Uncertain significance Single submitter
- OSBP2 p.Arg225Cys Uncertain significance Single submitter
- OSBP2 p.Arg278His Uncertain significance Single submitter
- OSBP2 p.Arg356Gln Uncertain significance Single submitter
- OSBP2 p.Arg79Gly Uncertain significance Single submitter
- OSBP2 p.Asp183Glu Uncertain significance Single submitter
- OSBP2 p.Asp298Asn Uncertain significance Single submitter
- OSBP2 p.Asp338Asn Uncertain significance Single submitter
- OSBP2 p.Glu301Ala Uncertain significance Single submitter
- OSBP2 p.Glu89Gly Uncertain significance Single submitter
- OSBP2 p.Ile342Met Uncertain significance Single submitter
- OSBP2 p.Leu127Pro Uncertain significance Single submitter
- OSBP2 p.Leu179Val Uncertain significance Single submitter
- OSBP2 p.Leu189Phe Uncertain significance Single submitter
- OSBP2 p.Leu190Phe Uncertain significance Single submitter
- OSBP2 p.Leu230Pro Uncertain significance Single submitter
- OSBP2 p.Phe136Cys Uncertain significance Single submitter
- OSBP2 p.Phe204Leu Uncertain significance Single submitter
- OSBP2 p.Pro139Ser Uncertain significance Single submitter
- OSBP2 p.Pro343Leu Uncertain significance Single submitter
- OSBP2 p.Pro60Gln Uncertain significance Single submitter
- OSBP2 p.Pro60Ser Uncertain significance Single submitter
- OSBP2 p.Pro78Ser Uncertain significance Single submitter
- OSBP2 p.Ser167Trp Uncertain significance Single submitter
- OSBP2 p.Ser70Leu Uncertain significance Single submitter
- OSBP2 p.Thr34Met Uncertain significance Single submitter
- OSBP2 p.Thr363Ala Uncertain significance Single submitter
- OSBP2 p.Thr87Met Uncertain significance Single submitter
- OSBP2 p.Trp188Cys Uncertain significance Single submitter
- OSBP2 p.Val73Phe Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- OSBP2 p.Ala329Thr Uncertain significance Single submitter
- OSBP2 p.Ala329Val Uncertain significance Single submitter
- OSBP2 p.Ala4Thr Uncertain significance Single submitter
- OSBP2 p.Arg201Cys Uncertain significance Single submitter
- OSBP2 p.Leu350Pro Uncertain significance Single submitter
- OSBP2 p.Lys275Glu Uncertain significance Single submitter
- OSBP2 p.Pro28Thr Uncertain significance Single submitter
- OSBP2 p.Ser231Pro Uncertain significance Single submitter
- OSBP2 p.Ser364Ala Uncertain significance Single submitter
- OSBP2 p.Thr223Met Uncertain significance Single submitter
- OSBP2 p.Thr318Met Uncertain significance Single submitter
All OSBP2 variants
Benign 5
- p.Ala328= Multiple submitters
- p.Leu137Phe Multiple submitters
- p.Leu330= Multiple submitters
- p.Ala123= Single submitter
- p.Thr25= Single submitter
Likely benign 4
- p.Ala178Val Single submitter
- p.Met166Val Single submitter
- p.Ser251Thr Single submitter
- p.Thr86= Single submitter
Uncertain significance 45
- p.Ala134Thr Single submitter ⚠
- p.Ala158Gly Single submitter ⚠
- p.Ala175Gly Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala293Ser Single submitter ⚠
- p.Ala329Thr Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg356Gln Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Asp183Glu Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp338Asn Single submitter ⚠
- p.Glu301Ala Single submitter ⚠
- p.Glu89Gly Single submitter ⚠
- p.Ile342Met Single submitter ⚠
- p.Leu127Pro Single submitter ⚠
- p.Leu179Val Single submitter ⚠
- p.Leu189Phe Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu230Pro Single submitter ⚠
- p.Leu350Pro Single submitter ⚠
- p.Lys275Glu Single submitter ⚠
- p.Phe136Cys Single submitter ⚠
- p.Phe204Leu Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro28Thr Single submitter ⚠
- p.Pro343Leu Single submitter ⚠
- p.Pro60Gln Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser167Trp Single submitter ⚠
- p.Ser231Pro Single submitter ⚠
- p.Ser364Ala Single submitter ⚠
- p.Ser70Leu Single submitter ⚠
- p.Thr223Met Single submitter ⚠
- p.Thr318Met Single submitter ⚠
- p.Thr34Met Single submitter ⚠
- p.Thr363Ala Single submitter ⚠
- p.Thr87Met Single submitter ⚠
- p.Trp188Cys Single submitter ⚠
- p.Val73Phe Single submitter ⚠