AOC2 — 146 ClinVar variants

All ClinVar germline AOC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

2 Benign · 6 Likely benign · 138 Uncertain significance

Full AOC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 55

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 85

The independent predictors disagree with each other — read with care.

All AOC2 variants

Benign 2

p.Arg597= Multiple submitters
p.Pro141Leu Multiple submitters ⚠

Likely benign 6

p.Ala8Val Single submitter
p.Arg273Trp Single submitter ⚠
p.Ile365Val Single submitter
p.Ile409Val Single submitter
p.Ile609Val Single submitter
p.Met221Ile Single submitter

Uncertain significance 138

p.Ala104Thr Single submitter ⚠
p.Ala218Thr Single submitter ⚠
p.Ala415Pro Single submitter ⚠
p.Ala450Val Single submitter ⚠
p.Ala519Gly Single submitter ⚠
p.Ala592Thr Single submitter ⚠
p.Ala66Thr Single submitter ⚠
p.Ala727Thr Single submitter ⚠
p.Ala742Thr Single submitter ⚠
p.Arg111Lys Single submitter ⚠
p.Arg118Trp Single submitter ⚠
p.Arg149Trp Single submitter ⚠
p.Arg155His Single submitter ⚠
p.Arg155Ser Single submitter ⚠
p.Arg164His Single submitter ⚠
p.Arg165Leu Single submitter ⚠
p.Arg210Trp Single submitter ⚠
p.Arg217Gln Single submitter ⚠
p.Arg279Gln Single submitter ⚠
p.Arg297Ser Single submitter ⚠
p.Arg347Gln Single submitter ⚠
p.Arg387Cys Single submitter ⚠
p.Arg390Gly Single submitter ⚠
p.Arg394Gln Single submitter ⚠
p.Arg436Ser Single submitter ⚠
p.Arg482Gln Single submitter ⚠
p.Arg506His Single submitter ⚠
p.Arg510Gly Single submitter ⚠
p.Arg557His Single submitter ⚠
p.Arg562Gln Single submitter ⚠
p.Arg581Cys Single submitter ⚠
p.Arg581Pro Single submitter ⚠
p.Arg597Cys Single submitter ⚠
p.Arg597His Single submitter ⚠
p.Arg600Gln Single submitter ⚠
p.Arg61Gln Single submitter ⚠
p.Arg69Cys Single submitter ⚠
p.Arg69His Single submitter ⚠
p.Arg74Trp Single submitter ⚠
p.Asn133Ser Single submitter ⚠
p.Asn198Asp Single submitter ⚠
p.Asn439Ser Single submitter ⚠
p.Asn647Asp Single submitter ⚠
p.Asp150Asn Single submitter ⚠
p.Asp216Asn Single submitter ⚠
p.Asp397Gly Single submitter ⚠
p.Asp616Val Single submitter ⚠
p.Asp708Asn Single submitter ⚠
p.Cys362Tyr Single submitter ⚠
p.Cys37Phe Single submitter ⚠
p.Gln257Glu Single submitter ⚠
p.Gln360Arg Single submitter ⚠
p.Glu183Asp Single submitter ⚠
p.Glu538Lys Single submitter ⚠
p.Glu722Gln Single submitter ⚠
p.Glu96Lys Single submitter ⚠
p.Gly158Arg Single submitter ⚠
p.Gly314Cys Single submitter ⚠
p.Gly340Ser Single submitter ⚠
p.Gly386Ser Single submitter ⚠
p.Gly395Val Single submitter ⚠
p.Gly496Trp Single submitter ⚠
p.Gly667Arg Single submitter ⚠
p.Gly698Ala Single submitter ⚠
p.Gly755Ser Single submitter ⚠
p.His225Arg Single submitter ⚠
p.His245Arg Single submitter ⚠
p.His408Arg Single submitter ⚠
p.His49Gln Single submitter ⚠
p.His521Leu Single submitter ⚠
p.His604Pro Single submitter ⚠
p.Ile189Ser Single submitter ⚠
p.Ile609Leu Single submitter ⚠
p.Ile643Val Single submitter ⚠
p.Ile681Val Single submitter ⚠
p.Ile732Thr Single submitter ⚠
p.Ile92Thr Single submitter ⚠
p.Leu125Val Single submitter ⚠
p.Leu202Gln Single submitter ⚠
p.Leu454Pro Single submitter ⚠
p.Leu570Pro Single submitter ⚠
p.Leu583Phe Single submitter ⚠
p.Leu701Val Single submitter ⚠
p.Leu729Phe Single submitter ⚠
p.Lys723Glu Single submitter ⚠
p.Phe333Ser Single submitter ⚠
p.Phe383Leu Single submitter ⚠
p.Phe503Leu Single submitter ⚠
p.Phe56Leu Single submitter ⚠
p.Phe573Val Single submitter ⚠
p.Phe699Leu Single submitter ⚠
p.Phe751Val Single submitter ⚠
p.Pro101Leu Single submitter ⚠
p.Pro114His Single submitter ⚠
p.Pro289Ser Single submitter ⚠
p.Pro38Arg Single submitter ⚠
p.Pro38Leu Single submitter ⚠
p.Pro475Ala Single submitter ⚠
p.Pro551Leu Single submitter ⚠
p.Pro703His Single submitter ⚠
p.Pro716Ser Single submitter ⚠
p.Pro746Leu Single submitter ⚠
p.Pro750Ser Single submitter ⚠
p.Ser13Phe Single submitter ⚠
p.Ser146Leu Single submitter ⚠
p.Ser311Leu Single submitter ⚠
p.Ser358Gly Single submitter ⚠
p.Ser381Arg Single submitter ⚠
p.Ser381Asn Single submitter ⚠
p.Ser389Asn Single submitter ⚠
p.Ser389Gly Single submitter ⚠
p.Ser577Arg Single submitter ⚠
p.Ser587Asn Single submitter ⚠
p.Thr152Ile Single submitter ⚠
p.Thr373Met Single submitter ⚠
p.Thr376Ala Single submitter ⚠
p.Thr486Met Single submitter ⚠
p.Thr491Ile Single submitter ⚠
p.Thr514Arg Single submitter ⚠
p.Thr514Met Single submitter ⚠
p.Thr690Ala Single submitter ⚠
p.Trp534Arg Single submitter ⚠
p.Tyr260Ser Single submitter ⚠
p.Tyr355Cys Single submitter ⚠
p.Tyr400Cys Single submitter ⚠
p.Tyr446Cys Single submitter ⚠
p.Tyr446Ser Single submitter ⚠
p.Tyr626Phe Single submitter ⚠
p.Tyr644Cys Single submitter ⚠
p.Tyr704Cys Single submitter ⚠
p.Val153Gly Single submitter ⚠
p.Val237Met Single submitter ⚠
p.Val255Gly Single submitter ⚠
p.Val255Leu Single submitter ⚠
p.Val258Ile Single submitter ⚠
p.Val393Leu Single submitter ⚠
p.Val483Ala Single submitter ⚠
p.Val67Ala Single submitter ⚠