OXSR1 — 37 ClinVar variants
All ClinVar germline OXSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Likely benign · 36 Uncertain significance
Full OXSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OXSR1 p.Ala29Asp Uncertain significance Single submitter
- OXSR1 p.Ala400Val Uncertain significance Single submitter
- OXSR1 p.Ala412Thr Uncertain significance Single submitter
- OXSR1 p.Ala483Ser Uncertain significance Single submitter
- OXSR1 p.Ala7Thr Uncertain significance Single submitter
- OXSR1 p.Arg47Trp Uncertain significance Single submitter
- OXSR1 p.Asp146Asn Uncertain significance Single submitter
- OXSR1 p.Gln428Pro Uncertain significance Single submitter
- OXSR1 p.Glu508Lys Uncertain significance Single submitter
- OXSR1 p.Gly111Trp Uncertain significance Single submitter
- OXSR1 p.Gly334Arg Uncertain significance Single submitter
- OXSR1 p.Gly476Arg Uncertain significance Single submitter
- OXSR1 p.Gly97Glu Uncertain significance Single submitter
- OXSR1 p.His391Tyr Uncertain significance Single submitter
- OXSR1 p.Ile45Val Uncertain significance Single submitter
- OXSR1 p.Ile512Thr Uncertain significance Single submitter
- OXSR1 p.Leu101Val Uncertain significance Single submitter
- OXSR1 p.Leu257Met Uncertain significance Single submitter
- OXSR1 p.Leu408Phe Uncertain significance Single submitter
- OXSR1 p.Lys110Asn Uncertain significance Single submitter
- OXSR1 p.Lys181Arg Uncertain significance Single submitter
- OXSR1 p.Lys278Ile Uncertain significance Single submitter
- OXSR1 p.Met256Ile Uncertain significance Single submitter
- OXSR1 p.Thr122Ala Uncertain significance Single submitter
- OXSR1 p.Thr122Ser Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- OXSR1 p.Ala461Thr Uncertain significance Single submitter
- OXSR1 p.Arg202Cys Uncertain significance Single submitter
- OXSR1 p.Asp475Asn Uncertain significance Single submitter
- OXSR1 p.Gln466Glu Uncertain significance Single submitter
- OXSR1 p.Gly506Asp Uncertain significance Single submitter
- OXSR1 p.Ile218Val Uncertain significance Single submitter
- OXSR1 p.Ser246Pro Uncertain significance Single submitter
- OXSR1 p.Thr222Ala Uncertain significance Single submitter
All OXSR1 variants
Likely benign 1
- p.Glu120= Single submitter
Uncertain significance 36
- p.Ala29Asp Single submitter ⚠
- p.Ala400Val Single submitter ⚠
- p.Ala412Thr Single submitter ⚠
- p.Ala461Thr Single submitter ⚠
- p.Ala483Ser Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg47Trp Single submitter ⚠
- p.Asp146Asn Single submitter ⚠
- p.Asp475Asn Single submitter ⚠
- p.Gln428Pro Single submitter ⚠
- p.Gln466Glu Single submitter ⚠
- p.Glu508Lys Single submitter ⚠
- p.Gly111Trp Single submitter ⚠
- p.Gly334Arg Single submitter ⚠
- p.Gly476Arg Single submitter ⚠
- p.Gly506Asp Single submitter ⚠
- p.Gly97Glu Single submitter ⚠
- p.His391Tyr Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Ile45Val Single submitter ⚠
- p.Ile512Thr Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu257Met Single submitter ⚠
- p.Leu408Phe Single submitter ⚠
- p.Lys110Asn Single submitter ⚠
- p.Lys114Glu Single submitter
- p.Lys181Arg Single submitter ⚠
- p.Lys278Ile Single submitter ⚠
- p.Met256Ile Single submitter ⚠
- p.Pro433Gln Single submitter
- p.Ser246Pro Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr122Ser Single submitter ⚠
- p.Thr222Ala Single submitter ⚠
- p.Val490Met Single submitter