OXCT2 — 75 ClinVar variants
All ClinVar germline OXCT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
3 Likely benign · 72 Uncertain significance
Full OXCT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OXCT2 p.Ala237Thr Uncertain significance Single submitter
- OXCT2 p.Ala23Val Uncertain significance Single submitter
- OXCT2 p.Ala292Thr Uncertain significance Single submitter
- OXCT2 p.Ala29Asp Uncertain significance Single submitter
- OXCT2 p.Arg146His Uncertain significance Single submitter
- OXCT2 p.Arg305His Uncertain significance Single submitter
- OXCT2 p.Arg465Cys Uncertain significance Single submitter
- OXCT2 p.Arg81Cys Uncertain significance Single submitter
- OXCT2 p.Asp239Glu Uncertain significance Single submitter
- OXCT2 p.Asp289Gly Uncertain significance Single submitter
- OXCT2 p.Asp84Glu Uncertain significance Single submitter
- OXCT2 p.Asp84His Uncertain significance Single submitter
- OXCT2 p.Gln86Arg Uncertain significance Single submitter
- OXCT2 p.Glu247Asp Uncertain significance Single submitter
- OXCT2 p.Gly100Ser Uncertain significance Single submitter
- OXCT2 p.Gly212Val Uncertain significance Single submitter
- OXCT2 p.Gly27Val Uncertain significance Single submitter
- OXCT2 p.Gly290Glu Uncertain significance Single submitter
- OXCT2 p.Gly459Arg Uncertain significance Single submitter
- OXCT2 p.Gly65Ala Uncertain significance Single submitter
- OXCT2 p.His179Arg Uncertain significance Single submitter
- OXCT2 p.His179Gln Uncertain significance Single submitter
- OXCT2 p.His337Asn Uncertain significance Single submitter
- OXCT2 p.Ile145Asn Uncertain significance Single submitter
- OXCT2 p.Ile248Asn Uncertain significance Single submitter
- OXCT2 p.Ile270Arg Uncertain significance Single submitter
- OXCT2 p.Ile322Val Uncertain significance Single submitter
- OXCT2 p.Ile344Leu Uncertain significance Single submitter
- OXCT2 p.Ile467Val Uncertain significance Single submitter
- OXCT2 p.Leu182Val Uncertain significance Single submitter
- OXCT2 p.Lys403Glu Uncertain significance Single submitter
- OXCT2 p.Phe223Ile Uncertain significance Single submitter
- OXCT2 p.Phe473Leu Uncertain significance Single submitter
- OXCT2 p.Pro153Ser Uncertain significance Single submitter
- OXCT2 p.Pro16Ser Uncertain significance Single submitter
- OXCT2 p.Pro351Ala Uncertain significance Single submitter
- OXCT2 p.Pro507Ser Uncertain significance Single submitter
- OXCT2 p.Thr157Asn Uncertain significance Single submitter
- OXCT2 p.Thr175Ala Uncertain significance Single submitter
- OXCT2 p.Thr175Ile Uncertain significance Single submitter
- OXCT2 p.Thr352Ala Uncertain significance Single submitter
- OXCT2 p.Thr446Asn Uncertain significance Single submitter
- OXCT2 p.Thr482Met Uncertain significance Single submitter
- OXCT2 p.Thr58Ala Uncertain significance Single submitter
- OXCT2 p.Thr58Ser Uncertain significance Single submitter
- OXCT2 p.Val266Leu Uncertain significance Single submitter
- OXCT2 p.Val336Ala Uncertain significance Single submitter
- OXCT2 p.Val463Leu Uncertain significance Single submitter
- OXCT2 p.Val492Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- OXCT2 p.Ala504Pro Uncertain significance Single submitter
- OXCT2 p.Arg204Leu Uncertain significance Single submitter
- OXCT2 p.Asn317Ser Uncertain significance Single submitter
- OXCT2 p.Asp258His Uncertain significance Single submitter
- OXCT2 p.Asp52Asn Uncertain significance Single submitter
- OXCT2 p.Glu280Gln Uncertain significance Single submitter
- OXCT2 p.Gly313Cys Uncertain significance Single submitter
- OXCT2 p.Ile302Met Uncertain significance Single submitter
- OXCT2 p.Ile302Val Uncertain significance Single submitter
- OXCT2 p.Met420Thr Uncertain significance Single submitter
- OXCT2 p.Pro186Ser Uncertain significance Single submitter
- OXCT2 p.Tyr265Cys Uncertain significance Single submitter
- OXCT2 p.Val251Met Uncertain significance Single submitter
- OXCT2 p.Val82Met Uncertain significance Single submitter
All OXCT2 variants
Likely benign 3
- p.Gly12Arg Single submitter
- p.Leu38Pro Single submitter
- p.Thr446Ile Single submitter
Uncertain significance 72
- p.Ala237Thr Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala29Asp Single submitter ⚠
- p.Ala504Pro Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg173Ser Single submitter
- p.Arg187Gln Single submitter
- p.Arg204Leu Single submitter ⚠
- p.Arg224Gly Single submitter
- p.Arg278Leu Single submitter
- p.Arg305His Single submitter ⚠
- p.Arg465Cys Single submitter ⚠
- p.Arg81Cys Single submitter ⚠
- p.Asn229Ser Single submitter
- p.Asn317Ser Single submitter ⚠
- p.Asp239Glu Single submitter ⚠
- p.Asp258His Single submitter ⚠
- p.Asp289Gly Single submitter ⚠
- p.Asp464Glu Single submitter
- p.Asp52Asn Single submitter ⚠
- p.Asp84Glu Single submitter ⚠
- p.Asp84His Single submitter ⚠
- p.Gln86Arg Single submitter ⚠
- p.Glu247Asp Single submitter ⚠
- p.Glu280Gln Single submitter ⚠
- p.Gly100Ser Single submitter ⚠
- p.Gly212Val Single submitter ⚠
- p.Gly27Val Single submitter ⚠
- p.Gly290Glu Single submitter ⚠
- p.Gly313Cys Single submitter ⚠
- p.Gly459Arg Single submitter ⚠
- p.Gly65Ala Single submitter ⚠
- p.His179Arg Single submitter ⚠
- p.His179Gln Single submitter ⚠
- p.His337Asn Single submitter ⚠
- p.Ile145Asn Single submitter ⚠
- p.Ile248Asn Single submitter ⚠
- p.Ile270Arg Single submitter ⚠
- p.Ile302Met Single submitter ⚠
- p.Ile302Val Single submitter ⚠
- p.Ile322Val Single submitter ⚠
- p.Ile344Leu Single submitter ⚠
- p.Ile467Val Single submitter ⚠
- p.Leu182Val Single submitter ⚠
- p.Lys403Glu Single submitter ⚠
- p.Lys470Glu Single submitter
- p.Met420Thr Single submitter ⚠
- p.Phe223Ile Single submitter ⚠
- p.Phe473Leu Single submitter ⚠
- p.Pro153Ser Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro186Ser Single submitter ⚠
- p.Pro351Ala Single submitter ⚠
- p.Pro46Arg Single submitter
- p.Pro507Ser Single submitter ⚠
- p.Thr157Asn Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr175Ile Single submitter ⚠
- p.Thr352Ala Single submitter ⚠
- p.Thr446Asn Single submitter ⚠
- p.Thr482Met Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Thr58Ser Single submitter ⚠
- p.Tyr265Cys Single submitter ⚠
- p.Val221Met Single submitter
- p.Val251Met Single submitter ⚠
- p.Val266Leu Single submitter ⚠
- p.Val336Ala Single submitter ⚠
- p.Val463Leu Single submitter ⚠
- p.Val492Ala Single submitter ⚠
- p.Val82Met Single submitter ⚠