OXTR — 63 ClinVar variants
All ClinVar germline OXTR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
8 Benign · 1 Benign/Likely benign · 11 Likely benign · 43 Uncertain significance
Full OXTR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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.
- OXTR p.Ala181Ser Uncertain significance Single submitter
- OXTR p.Ala19Val Uncertain significance Single submitter
- OXTR p.Ala236Asp Uncertain significance Single submitter
- OXTR p.Ala236Thr Uncertain significance Single submitter
- OXTR p.Ala238Gly Uncertain significance Single submitter
- OXTR p.Ala240Val Uncertain significance Single submitter
- OXTR p.Ala302Thr Uncertain significance Single submitter
- OXTR p.Ala349Thr Uncertain significance Single submitter
- OXTR p.Ala58Ser Uncertain significance Single submitter
- OXTR p.Ala58Thr Uncertain significance Single submitter
- OXTR p.Arg137Ser Uncertain significance Single submitter
- OXTR p.Arg154Ser Uncertain significance Single submitter
- OXTR p.Arg356Cys Uncertain significance Single submitter
- OXTR p.Arg356His Uncertain significance Single submitter
- OXTR p.Asp186Asn Uncertain significance Single submitter
- OXTR p.Asp251Asn Uncertain significance Single submitter
- OXTR p.Cys323Gly Uncertain significance Single submitter
- OXTR p.Glu179Lys Uncertain significance Single submitter
- OXTR p.Gly22Glu Uncertain significance Single submitter
- OXTR p.Gly354Ala Uncertain significance Single submitter
- OXTR p.Leu110Gln Uncertain significance Single submitter
- OXTR p.Leu357Met Uncertain significance Single submitter
- OXTR p.Leu98Pro Uncertain significance Single submitter
- OXTR p.Lys264Arg Uncertain significance Single submitter
- OXTR p.Lys364Thr Uncertain significance Single submitter
- OXTR p.Ser378Pro Uncertain significance Single submitter
- OXTR p.Tyr106Asp Uncertain significance Single submitter
- OXTR p.Tyr351His Uncertain significance Single submitter
- OXTR p.Val180Leu Uncertain significance Single submitter
- OXTR p.Val215Leu Uncertain significance Single submitter
- OXTR p.Val263Ile Uncertain significance Single submitter
- OXTR p.Val294Glu Uncertain significance Single submitter
- OXTR p.Val341Met Uncertain significance Single submitter
- OXTR p.Val88Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- OXTR p.Ala125Thr Uncertain significance Single submitter
- OXTR p.Arg68Cys Uncertain significance Single submitter
- OXTR p.Arg68Gly Uncertain significance Single submitter
- OXTR p.Asn8Tyr Uncertain significance Single submitter
- OXTR p.Asp100Asn Uncertain significance Single submitter
- OXTR p.Leu316Phe Uncertain significance Single submitter
- OXTR p.Met133Ile Uncertain significance Single submitter
- OXTR p.Met315Arg Uncertain significance Single submitter
- OXTR p.Ser10Asn Uncertain significance Single submitter
All OXTR variants
Benign 8
- p.Ala218Thr Multiple submitters
- p.Leu206Val Multiple submitters
- p.Val172Ala Multiple submitters
- p.Arg356= Single submitter
- p.Glu339Lys Single submitter
- p.Tyr117= Single submitter
- p.Ala238Thr No assertion criteria OXTR-related disorder
- p.Asn230= No assertion criteria OXTR-related disorder
Benign/Likely benign 1
- p.Ser368= Multiple submitters
Likely benign 11
- p.Ala169Val Single submitter
- p.Ala389Val Single submitter
- p.Arg254Cys Single submitter
- p.Asn303Asp Single submitter
- p.Leu46Pro Single submitter
- p.Thr235= Single submitter
- p.Thr388Met Single submitter
- p.Val120= Single submitter
- p.Val255Met Single submitter
- p.Ala53= No assertion criteria OXTR-related disorder
- p.Pro170= No assertion criteria OXTR-related disorder
Uncertain significance 43
- p.Ala125Thr Single submitter ⚠
- p.Ala181Ser Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala236Asp Single submitter ⚠
- p.Ala236Thr Single submitter ⚠
- p.Ala238Gly Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala58Ser Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Arg137Ser Single submitter ⚠
- p.Arg154Ser Single submitter ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg356His Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg68Gly Single submitter ⚠
- p.Asn8Tyr Single submitter ⚠
- p.Asp100Asn Single submitter ⚠
- p.Asp186Asn Single submitter ⚠
- p.Asp251Asn Single submitter ⚠
- p.Cys323Gly Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Gly22Glu Single submitter ⚠
- p.Gly354Ala Single submitter ⚠
- p.Leu110Gln Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Leu357Met Single submitter ⚠
- p.Leu98Pro Single submitter ⚠
- p.Lys264Arg Single submitter ⚠
- p.Lys364Thr Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met315Arg Single submitter ⚠
- p.Ser10Asn Single submitter ⚠
- p.Ser378Pro Single submitter ⚠
- p.Tyr106Asp Single submitter ⚠
- p.Tyr351His Single submitter ⚠
- p.Val180Leu Single submitter ⚠
- p.Val215Leu Single submitter ⚠
- p.Val263Ile Single submitter ⚠
- p.Val294Glu Single submitter ⚠
- p.Val341Met Single submitter ⚠
- p.Val88Ala Single submitter ⚠