PAOX — 80 ClinVar variants
All ClinVar germline PAOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
16 Likely benign · 64 Uncertain significance
Full PAOX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAOX p.Ala116Ser Uncertain significance Single submitter
- PAOX p.Ala128Val Uncertain significance Single submitter
- PAOX p.Ala131Gly Uncertain significance Single submitter
- PAOX p.Ala235Thr Uncertain significance Single submitter
- PAOX p.Arg277Trp Uncertain significance Single submitter
- PAOX p.Arg415Trp Uncertain significance Single submitter
- PAOX p.Arg495Cys Uncertain significance Single submitter
- PAOX p.Arg76Leu Uncertain significance Single submitter
- PAOX p.Asp173Asn Uncertain significance Single submitter
- PAOX p.Asp335His Uncertain significance Single submitter
- PAOX p.Gln337Arg Uncertain significance Single submitter
- PAOX p.Gln357His Uncertain significance Single submitter
- PAOX p.Gln454Glu Uncertain significance Single submitter
- PAOX p.Gln503Arg Uncertain significance Single submitter
- PAOX p.Glu149Asp Uncertain significance Single submitter
- PAOX p.Glu149Gln Uncertain significance Single submitter
- PAOX p.Gly136Ser Uncertain significance Single submitter
- PAOX p.Gly169Ser Uncertain significance Single submitter
- PAOX p.Gly462Ser Uncertain significance Single submitter
- PAOX p.Gly484Arg Uncertain significance Single submitter
- PAOX p.His483Arg Uncertain significance Single submitter
- PAOX p.Ile365Thr Uncertain significance Single submitter
- PAOX p.Leu465His Uncertain significance Single submitter
- PAOX p.Lys161Arg Uncertain significance Single submitter
- PAOX p.Lys161Asn Uncertain significance Single submitter
- PAOX p.Pro288Leu Uncertain significance Single submitter
- PAOX p.Pro302Leu Uncertain significance Single submitter
- PAOX p.Pro348Leu Uncertain significance Single submitter
- PAOX p.Pro509Leu Uncertain significance Single submitter
- PAOX p.Ser186Phe Uncertain significance Single submitter
- PAOX p.Ser488Leu Uncertain significance Single submitter
- PAOX p.Thr176Ile Uncertain significance Single submitter
- PAOX p.Thr240Ala Uncertain significance Single submitter
- PAOX p.Thr481Met Uncertain significance Single submitter
- PAOX p.Trp252Arg Uncertain significance Single submitter
- PAOX p.Tyr437Ser Uncertain significance Single submitter
- PAOX p.Val113Met Uncertain significance Single submitter
- PAOX p.Val155Ile Uncertain significance Single submitter
- PAOX p.Val66Leu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- PAOX p.Glu329Asp Uncertain significance Multiple submitters
- PAOX p.Arg424Gln Uncertain significance Single submitter
- PAOX p.Arg424Trp Uncertain significance Single submitter
- PAOX p.Arg495His Uncertain significance Single submitter
- PAOX p.Asp201His Uncertain significance Single submitter
- PAOX p.Asp494Asn Uncertain significance Single submitter
- PAOX p.Cys336Trp Uncertain significance Single submitter
- PAOX p.Glu191Gln Uncertain significance Single submitter
- PAOX p.Glu271Gly Uncertain significance Single submitter
- PAOX p.Glu94Lys Uncertain significance Single submitter
- PAOX p.Glu98Lys Uncertain significance Single submitter
- PAOX p.Gly119Arg Uncertain significance Single submitter
- PAOX p.Gly156Glu Uncertain significance Single submitter
- PAOX p.Gly196Ser Uncertain significance Single submitter
- PAOX p.Gly443Asp Uncertain significance Single submitter
- PAOX p.Leu292Ile Uncertain significance Single submitter
- PAOX p.Pro111Leu Uncertain significance Single submitter
- PAOX p.Pro111Ser Uncertain significance Single submitter
- PAOX p.Pro215Ser Uncertain significance Single submitter
- PAOX p.Pro246Ser Uncertain significance Single submitter
- PAOX p.Pro417Leu Uncertain significance Single submitter
- PAOX p.Val287Met Uncertain significance Single submitter
- PAOX p.Val63Met Uncertain significance Single submitter
All PAOX variants
Likely benign 16
- p.Ala359Thr Single submitter
- p.Ala461Thr Single submitter
- p.Ala470= Single submitter
- p.Ala493= Single submitter
- p.Arg426Cys Single submitter
- p.Glu94= Single submitter
- p.His483= Single submitter
- p.Ile467= Single submitter
- p.Leu487= Single submitter
- p.Leu497= Single submitter
- p.Phe469= Single submitter
- p.Pro502= Single submitter
- p.Ser269Leu Single submitter
- p.Thr477= Single submitter
- p.Thr481= Single submitter
- p.Thr482= Single submitter
Uncertain significance 64
- p.Glu329Asp Multiple submitters ⚠
- p.Ala116Ser Single submitter ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala131Gly Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg424Gln Single submitter ⚠
- p.Arg424Trp Single submitter ⚠
- p.Arg495Cys Single submitter ⚠
- p.Arg495His Single submitter ⚠
- p.Arg76Leu Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp201His Single submitter ⚠
- p.Asp335His Single submitter ⚠
- p.Asp494Asn Single submitter ⚠
- p.Cys336Trp Single submitter ⚠
- p.Gln337Arg Single submitter ⚠
- p.Gln357His Single submitter ⚠
- p.Gln454Glu Single submitter ⚠
- p.Gln503Arg Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu149Gln Single submitter ⚠
- p.Glu191Gln Single submitter ⚠
- p.Glu271Gly Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly156Glu Single submitter ⚠
- p.Gly169Ser Single submitter ⚠
- p.Gly196Ser Single submitter ⚠
- p.Gly224Ser Single submitter
- p.Gly443Asp Single submitter ⚠
- p.Gly462Ser Single submitter ⚠
- p.Gly484Arg Single submitter ⚠
- p.His483Arg Single submitter ⚠
- p.Ile365Thr Single submitter ⚠
- p.Leu292Ile Single submitter ⚠
- p.Leu465His Single submitter ⚠
- p.Lys161Arg Single submitter ⚠
- p.Lys161Asn Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Pro215Ser Single submitter ⚠
- p.Pro246Ser Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Pro509Leu Single submitter ⚠
- p.Ser186Phe Single submitter ⚠
- p.Ser488Leu Single submitter ⚠
- p.Thr176Ile Single submitter ⚠
- p.Thr240Ala Single submitter ⚠
- p.Thr481Met Single submitter ⚠
- p.Thr482Met Single submitter
- p.Trp252Arg Single submitter ⚠
- p.Tyr437Ser Single submitter ⚠
- p.Val113Met Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val287Met Single submitter ⚠
- p.Val63Met Single submitter ⚠
- p.Val66Leu Single submitter ⚠