OXER1 — 108 ClinVar variants
All ClinVar germline OXER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
2 Benign · 9 Likely benign · 97 Uncertain significance
Full OXER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OXER1 c.-17C>T Uncertain significance Single submitter
- OXER1 c.-29T>C Uncertain significance Single submitter
- OXER1 c.-35A>G Uncertain significance Single submitter
- OXER1 c.-66C>G Uncertain significance Single submitter
- OXER1 p.Ala139Asp Uncertain significance Single submitter
- OXER1 p.Ala278Val Uncertain significance Single submitter
- OXER1 p.Arg120His Uncertain significance Single submitter
- OXER1 p.Arg164His Uncertain significance Single submitter
- OXER1 p.Arg212Cys Uncertain significance Single submitter
- OXER1 p.Arg243His Uncertain significance Single submitter
- OXER1 p.Arg289Gln Uncertain significance Single submitter
- OXER1 p.Arg328Gln Uncertain significance Single submitter
- OXER1 p.Arg328Trp Uncertain significance Single submitter
- OXER1 p.Arg335Trp Uncertain significance Single submitter
- OXER1 p.Arg337Gln Uncertain significance Single submitter
- OXER1 p.Arg354Cys Uncertain significance Single submitter
- OXER1 p.Arg354His Uncertain significance Single submitter
- OXER1 p.Arg356Trp Uncertain significance Single submitter
- OXER1 p.Arg5His Uncertain significance Single submitter
- OXER1 p.Arg83Trp Uncertain significance Single submitter
- OXER1 p.Asp292Asn Uncertain significance Single submitter
- OXER1 p.Asp343Asn Uncertain significance Single submitter
- OXER1 p.Gln8Lys Uncertain significance Single submitter
- OXER1 p.Glu344Lys Uncertain significance Single submitter
- OXER1 p.Glu357Ala Uncertain significance Single submitter
- OXER1 p.Glu373Lys Uncertain significance Single submitter
- OXER1 p.Gly180Ala Uncertain significance Single submitter
- OXER1 p.Gly247Arg Uncertain significance Single submitter
- OXER1 p.Gly250Asp Uncertain significance Single submitter
- OXER1 p.Gly38Glu Uncertain significance Single submitter
- OXER1 p.His159Gln Uncertain significance Single submitter
- OXER1 p.His325Asp Uncertain significance Single submitter
- OXER1 p.Ile181Met Uncertain significance Single submitter
- OXER1 p.Ile77Leu Uncertain significance Single submitter
- OXER1 p.Ile80Thr Uncertain significance Single submitter
- OXER1 p.Leu108Phe Uncertain significance Single submitter
- OXER1 p.Leu183Ile Uncertain significance Single submitter
- OXER1 p.Leu184Val Uncertain significance Single submitter
- OXER1 p.Leu228Phe Uncertain significance Single submitter
- OXER1 p.Leu291Val Uncertain significance Single submitter
- OXER1 p.Leu324Ile Uncertain significance Single submitter
- OXER1 p.Lys206Arg Uncertain significance Single submitter
- OXER1 p.Met132Leu Uncertain significance Single submitter
- OXER1 p.Met277Val Uncertain significance Single submitter
- OXER1 p.Pro207Arg Uncertain significance Single submitter
- OXER1 p.Pro26Leu Uncertain significance Single submitter
- OXER1 p.Pro349His Uncertain significance Single submitter
- OXER1 p.Ser15Thr Uncertain significance Single submitter
- OXER1 p.Ser16Pro Uncertain significance Single submitter
- OXER1 p.Ser194Cys Uncertain significance Single submitter
- OXER1 p.Ser197Tyr Uncertain significance Single submitter
- OXER1 p.Ser208Leu Uncertain significance Single submitter
- OXER1 p.Ser210Leu Uncertain significance Single submitter
- OXER1 p.Ser21Tyr Uncertain significance Single submitter
- OXER1 p.Ser25Leu Uncertain significance Single submitter
- OXER1 p.Ser359Phe Uncertain significance Single submitter
- OXER1 p.Ser381Phe Uncertain significance Single submitter
- OXER1 p.Ser50Leu Uncertain significance Single submitter
- OXER1 p.Ser7Cys Uncertain significance Single submitter
- OXER1 p.Thr205Met Uncertain significance Single submitter
- OXER1 p.Thr334Lys Uncertain significance Single submitter
- OXER1 p.Thr334Met Uncertain significance Single submitter
- OXER1 p.Thr89Ala Uncertain significance Single submitter
- OXER1 p.Tyr265Cys Uncertain significance Single submitter
- OXER1 p.Val110Met Uncertain significance Single submitter
- OXER1 p.Val156Gly Uncertain significance Single submitter
- OXER1 p.Val161Gly Uncertain significance Single submitter
- OXER1 p.Val161Met Uncertain significance Single submitter
- OXER1 p.Val203Met Uncertain significance Single submitter
- OXER1 p.Val36Leu Uncertain significance Single submitter
- OXER1 p.Val374Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- OXER1 p.Arg151Cys Uncertain significance Single submitter
- OXER1 p.Arg151His Uncertain significance Single submitter
- OXER1 p.Cys294Arg Uncertain significance Single submitter
- OXER1 p.Cys44Tyr Uncertain significance Single submitter
- OXER1 p.Gly176Glu Uncertain significance Single submitter
- OXER1 p.Gly276Asp Uncertain significance Single submitter
- OXER1 p.Leu219Arg Uncertain significance Single submitter
- OXER1 p.Phe298Leu Uncertain significance Single submitter
- OXER1 p.Ser134Pro Uncertain significance Single submitter
- OXER1 p.Trp213Arg Uncertain significance Single submitter
- OXER1 p.Trp85Arg Uncertain significance Single submitter
- OXER1 p.Tyr113His Uncertain significance Single submitter
All OXER1 variants
Benign 2
- p.Ala329Val Multiple submitters
- p.Phe275= Multiple submitters
Likely benign 9
- p.Ala124Thr Single submitter
- p.Ala362Val Single submitter
- p.Arg335Gln Single submitter
- p.Arg337Trp Single submitter
- p.Arg5Cys Single submitter
- p.Asn322Ser Single submitter
- p.Gln326His Single submitter
- p.Ile59Val Single submitter
- p.Thr295Pro Single submitter
Uncertain significance 97
- c.31G>A Single submitter
- c.44C>A Single submitter
- c.6G>C Single submitter
- c.-17C>T Single submitter ⚠
- c.-29T>C Single submitter ⚠
- c.-35A>G Single submitter ⚠
- c.-66C>G Single submitter ⚠
- p.Ala139Asp Single submitter ⚠
- p.Ala278Val Single submitter ⚠
- p.Arg109Cys Single submitter
- p.Arg109His Single submitter
- p.Arg120His Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg164Cys Single submitter
- p.Arg164His Single submitter ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg243His Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Arg335Trp Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg354His Single submitter ⚠
- p.Arg356Trp Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg83Trp Single submitter ⚠
- p.Asn136Thr Single submitter
- p.Asp111Glu Single submitter
- p.Asp292Asn Single submitter ⚠
- p.Asp343Asn Single submitter ⚠
- p.Cys294Arg Single submitter ⚠
- p.Cys44Tyr Single submitter ⚠
- p.Gln8Lys Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Glu357Ala Single submitter ⚠
- p.Glu373Lys Single submitter ⚠
- p.Gly176Glu Single submitter ⚠
- p.Gly180Ala Single submitter ⚠
- p.Gly186Glu Single submitter
- p.Gly247Arg Single submitter ⚠
- p.Gly250Asp Single submitter ⚠
- p.Gly276Asp Single submitter ⚠
- p.Gly38Glu Single submitter ⚠
- p.His159Gln Single submitter ⚠
- p.His325Asp Single submitter ⚠
- p.Ile181Met Single submitter ⚠
- p.Ile236Thr Single submitter
- p.Ile59Asn Single submitter
- p.Ile77Leu Single submitter ⚠
- p.Ile77Thr Single submitter
- p.Ile80Thr Single submitter ⚠
- p.Leu108Phe Single submitter ⚠
- p.Leu183Ile Single submitter ⚠
- p.Leu184Val Single submitter ⚠
- p.Leu217Pro Single submitter
- p.Leu219Arg Single submitter ⚠
- p.Leu228Phe Single submitter ⚠
- p.Leu291Val Single submitter ⚠
- p.Leu324Ile Single submitter ⚠
- p.Lys206Arg Single submitter ⚠
- p.Met132Leu Single submitter ⚠
- p.Met277Val Single submitter ⚠
- p.Phe298Leu Single submitter ⚠
- p.Pro207Arg Single submitter ⚠
- p.Pro26Leu Single submitter ⚠
- p.Pro349His Single submitter ⚠
- p.Ser134Pro Single submitter ⚠
- p.Ser15Thr Single submitter ⚠
- p.Ser16Pro Single submitter ⚠
- p.Ser194Cys Single submitter ⚠
- p.Ser197Tyr Single submitter ⚠
- p.Ser208Leu Single submitter ⚠
- p.Ser210Leu Single submitter ⚠
- p.Ser21Tyr Single submitter ⚠
- p.Ser25Leu Single submitter ⚠
- p.Ser272Ile Single submitter
- p.Ser359Phe Single submitter ⚠
- p.Ser381Phe Single submitter ⚠
- p.Ser50Leu Single submitter ⚠
- p.Ser7Cys Single submitter ⚠
- p.Thr205Met Single submitter ⚠
- p.Thr334Lys Single submitter ⚠
- p.Thr334Met Single submitter ⚠
- p.Thr89Ala Single submitter ⚠
- p.Trp213Arg Single submitter ⚠
- p.Trp85Arg Single submitter ⚠
- p.Tyr113His Single submitter ⚠
- p.Tyr265Cys Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val156Gly Single submitter ⚠
- p.Val161Gly Single submitter ⚠
- p.Val161Met Single submitter ⚠
- p.Val203Met Single submitter ⚠
- p.Val36Leu Single submitter ⚠
- p.Val374Ile Single submitter ⚠