AOC1 — 116 ClinVar variants
All ClinVar germline AOC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
1 Conflicting · 1 Benign · 9 Likely benign · 105 Uncertain significance
Full AOC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AOC1 p.Ala347Val Uncertain significance Single submitter
- AOC1 p.Ala357Val Uncertain significance Single submitter
- AOC1 p.Ala487Thr Uncertain significance Single submitter
- AOC1 p.Arg180Gly Uncertain significance Single submitter
- AOC1 p.Arg197His Uncertain significance Single submitter
- AOC1 p.Arg198Leu Uncertain significance Single submitter
- AOC1 p.Arg205His Uncertain significance Single submitter
- AOC1 p.Arg251Trp Uncertain significance Single submitter
- AOC1 p.Arg288His Uncertain significance Single submitter
- AOC1 p.Arg345His Uncertain significance Single submitter
- AOC1 p.Arg345Leu Uncertain significance Single submitter
- AOC1 p.Arg496His Uncertain significance Single submitter
- AOC1 p.Arg517His Uncertain significance Single submitter
- AOC1 p.Arg548Gly Uncertain significance Single submitter
- AOC1 p.Arg568His Uncertain significance Single submitter
- AOC1 p.Arg594His Uncertain significance Single submitter
- AOC1 p.Arg697Trp Uncertain significance Single submitter
- AOC1 p.Arg728His Uncertain significance Single submitter
- AOC1 p.Arg91Ser Uncertain significance Single submitter
- AOC1 p.Arg98His Uncertain significance Single submitter
- AOC1 p.Asn168Thr Uncertain significance Single submitter
- AOC1 p.Asn460Asp Uncertain significance Single submitter
- AOC1 p.Asn472Ser Uncertain significance Single submitter
- AOC1 p.Asp408Glu Uncertain significance Single submitter
- AOC1 p.Asp408Val Uncertain significance Single submitter
- AOC1 p.Gln39Leu Uncertain significance Single submitter
- AOC1 p.Gln613Pro Uncertain significance Single submitter
- AOC1 p.Glu20Asp Uncertain significance Single submitter
- AOC1 p.Glu20Lys Uncertain significance Single submitter
- AOC1 p.Glu313Gly Uncertain significance Single submitter
- AOC1 p.Gly133Arg Uncertain significance Single submitter
- AOC1 p.Gly229Glu Uncertain significance Single submitter
- AOC1 p.Gly24Glu Uncertain significance Single submitter
- AOC1 p.Gly270Val Uncertain significance Single submitter
- AOC1 p.Gly320Ser Uncertain significance Single submitter
- AOC1 p.Gly320Val Uncertain significance Single submitter
- AOC1 p.Gly375Ser Uncertain significance Single submitter
- AOC1 p.Gly388Ser Uncertain significance Single submitter
- AOC1 p.Gly507Asp Uncertain significance Single submitter
- AOC1 p.Gly5Ser Uncertain significance Single submitter
- AOC1 p.Gly672Asp Uncertain significance Single submitter
- AOC1 p.His163Tyr Uncertain significance Single submitter
- AOC1 p.His645Gln Uncertain significance Single submitter
- AOC1 p.Ile203Thr Uncertain significance Single submitter
- AOC1 p.Leu71Phe Uncertain significance Single submitter
- AOC1 p.Lys570Arg Uncertain significance Single submitter
- AOC1 p.Met125Ile Uncertain significance Single submitter
- AOC1 p.Met367Arg Uncertain significance Single submitter
- AOC1 p.Met738Ile Uncertain significance Single submitter
- AOC1 p.Phe326Val Uncertain significance Single submitter
- AOC1 p.Phe439Ser Uncertain significance Single submitter
- AOC1 p.Pro279Leu Uncertain significance Single submitter
- AOC1 p.Pro280Ser Uncertain significance Single submitter
- AOC1 p.Pro294Leu Uncertain significance Single submitter
- AOC1 p.Pro305Ser Uncertain significance Single submitter
- AOC1 p.Pro471Ser Uncertain significance Single submitter
- AOC1 p.Pro607Ser Uncertain significance Single submitter
- AOC1 p.Pro741Ala Uncertain significance Single submitter
- AOC1 p.Thr169Ala Uncertain significance Single submitter
- AOC1 p.Thr400Ser Uncertain significance Single submitter
- AOC1 p.Thr557Met Uncertain significance Single submitter
- AOC1 p.Thr670Lys Uncertain significance Single submitter
- AOC1 p.Trp609Arg Uncertain significance Single submitter
- AOC1 p.Tyr253Phe Uncertain significance Single submitter
- AOC1 p.Tyr459His Uncertain significance Single submitter
- AOC1 p.Tyr463Cys Uncertain significance Single submitter
- AOC1 p.Val221Met Uncertain significance Single submitter
- AOC1 p.Val262Ile Uncertain significance Single submitter
- AOC1 p.Val350Phe Uncertain significance Single submitter
- AOC1 p.Val352Ala Uncertain significance Single submitter
- AOC1 p.Val44Met Uncertain significance Single submitter
- AOC1 p.Val485Ile Uncertain significance Single submitter
- AOC1 p.Val648Ala Uncertain significance Single submitter
- AOC1 p.Val671Ala Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- AOC1 p.Ala565Val Uncertain significance Single submitter
- AOC1 p.Ala614Thr Uncertain significance Single submitter
- AOC1 p.Arg190Leu Uncertain significance Single submitter
- AOC1 p.Arg198Cys Uncertain significance Single submitter
- AOC1 p.Arg205Cys Uncertain significance Single submitter
- AOC1 p.Arg309Cys Uncertain significance Single submitter
- AOC1 p.Arg309Pro Conflicting Single submitter
- AOC1 p.Arg345Cys Uncertain significance Single submitter
- AOC1 p.Arg594Ser Uncertain significance Single submitter
- AOC1 p.Arg619Ser Uncertain significance Single submitter
- AOC1 p.Arg628Trp Uncertain significance Single submitter
- AOC1 p.Arg98Cys Uncertain significance Single submitter
- AOC1 p.Asp373Asn Uncertain significance Single submitter
- AOC1 p.Gln304Arg Uncertain significance Single submitter
- AOC1 p.Glu344Lys Uncertain significance Single submitter
- AOC1 p.Glu658Lys Uncertain significance Single submitter
- AOC1 p.Ile660Thr Uncertain significance Single submitter
- AOC1 p.Leu372Pro Uncertain significance Single submitter
- AOC1 p.Phe469Leu Uncertain significance Single submitter
- AOC1 p.Pro409Leu Uncertain significance Single submitter
- AOC1 p.Pro409Ser Uncertain significance Single submitter
- AOC1 p.Pro698Ser Uncertain significance Single submitter
- AOC1 p.Pro718Ala Uncertain significance Single submitter
- AOC1 p.Ser245Ile Uncertain significance Single submitter
- AOC1 p.Thr112Ile Uncertain significance Single submitter
- AOC1 p.Tyr627Cys Uncertain significance Single submitter
- AOC1 p.Val339Met Uncertain significance Single submitter
- AOC1 p.Val69Met Uncertain significance Single submitter
All AOC1 variants
Conflicting classifications of pathogenicity 1
- p.Arg309Pro Single submitter ⚠
Benign 1
- p.Asn659His Multiple submitters
Likely benign 9
- c.1571-9T>C Single submitter
- p.Ala19= Single submitter
- p.Ala232Thr Single submitter
- p.Arg548His Single submitter
- p.Arg719Gln Single submitter
- p.Arg749= Single submitter
- p.Gly24Arg Single submitter
- p.Pro23Leu Single submitter
- p.Val726Ile Single submitter
Uncertain significance 105
- p.Ala347Val Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Ala565Val Single submitter ⚠
- p.Ala614Thr Single submitter ⚠
- p.Arg180Gly Single submitter ⚠
- p.Arg190Leu Single submitter ⚠
- p.Arg197His Single submitter ⚠
- p.Arg198Cys Single submitter ⚠
- p.Arg198Leu Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg205His Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg288His Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg345Cys Single submitter ⚠
- p.Arg345His Single submitter ⚠
- p.Arg345Leu Single submitter ⚠
- p.Arg429Gln Single submitter
- p.Arg453Gln Single submitter
- p.Arg496His Single submitter ⚠
- p.Arg517His Single submitter ⚠
- p.Arg548Gly Single submitter ⚠
- p.Arg568His Single submitter ⚠
- p.Arg594His Single submitter ⚠
- p.Arg594Ser Single submitter ⚠
- p.Arg619Ser Single submitter ⚠
- p.Arg628Trp Single submitter ⚠
- p.Arg697Trp Single submitter ⚠
- p.Arg728His Single submitter ⚠
- p.Arg91Ser Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asn168Thr Single submitter ⚠
- p.Asn460Asp Single submitter ⚠
- p.Asn472Ser Single submitter ⚠
- p.Asp373Asn Single submitter ⚠
- p.Asp408Glu Single submitter ⚠
- p.Asp408Val Single submitter ⚠
- p.Gln304Arg Single submitter ⚠
- p.Gln39Leu Single submitter ⚠
- p.Gln613Pro Single submitter ⚠
- p.Glu20Asp Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu218Ter Single submitter
- p.Glu313Gly Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Glu658Lys Single submitter ⚠
- p.Gly133Arg Single submitter ⚠
- p.Gly229Glu Single submitter ⚠
- p.Gly24Glu Single submitter ⚠
- p.Gly270Val Single submitter ⚠
- p.Gly320Ser Single submitter ⚠
- p.Gly320Val Single submitter ⚠
- p.Gly375Ser Single submitter ⚠
- p.Gly388Ser Single submitter ⚠
- p.Gly507Asp Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly672Asp Single submitter ⚠
- p.His163Tyr Single submitter ⚠
- p.His645Gln Single submitter ⚠
- p.Ile203Thr Single submitter ⚠
- p.Ile660Thr Single submitter ⚠
- p.Leu372Pro Single submitter ⚠
- p.Leu71Phe Single submitter ⚠
- p.Lys570Arg Single submitter ⚠
- p.Met125Ile Single submitter ⚠
- p.Met367Arg Single submitter ⚠
- p.Met738Ile Single submitter ⚠
- p.Phe326Val Single submitter ⚠
- p.Phe439Ser Single submitter ⚠
- p.Phe469Leu Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Pro280Ser Single submitter ⚠
- p.Pro294Leu Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro392Leu Single submitter
- p.Pro409Leu Single submitter ⚠
- p.Pro409Ser Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro607Ser Single submitter ⚠
- p.Pro698Ser Single submitter ⚠
- p.Pro718Ala Single submitter ⚠
- p.Pro741Ala Single submitter ⚠
- p.Ser245Ile Single submitter ⚠
- p.Thr112Ile Single submitter ⚠
- p.Thr169Ala Single submitter ⚠
- p.Thr400Ser Single submitter ⚠
- p.Thr557Met Single submitter ⚠
- p.Thr670Lys Single submitter ⚠
- p.Trp609Arg Single submitter ⚠
- p.Tyr253Phe Single submitter ⚠
- p.Tyr459His Single submitter ⚠
- p.Tyr463Cys Single submitter ⚠
- p.Tyr627Cys Single submitter ⚠
- p.Val221Met Single submitter ⚠
- p.Val262Ile Single submitter ⚠
- p.Val339Met Single submitter ⚠
- p.Val350Phe Single submitter ⚠
- p.Val352Ala Single submitter ⚠
- p.Val44Met Single submitter ⚠
- p.Val485Ile Single submitter ⚠
- p.Val648Ala Single submitter ⚠
- p.Val671Ala Single submitter ⚠
- p.Val69Met Single submitter ⚠