ACOX3 — 180 ClinVar variants
All ClinVar germline ACOX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →
1 Conflicting · 12 Benign · 20 Likely benign · 147 Uncertain significance
Full ACOX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 154
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOX3 p.Ala261Thr Uncertain significance Single submitter
- ACOX3 p.Ala36Val Uncertain significance Single submitter
- ACOX3 p.Ala512Thr Uncertain significance Single submitter
- ACOX3 p.Ala559Pro Uncertain significance Single submitter
- ACOX3 p.Ala604Ser Uncertain significance Single submitter
- ACOX3 p.Ala62Val Uncertain significance Single submitter
- ACOX3 p.Arg231Gln Uncertain significance Single submitter
- ACOX3 p.Arg231Pro Uncertain significance Single submitter
- ACOX3 p.Arg231Trp Uncertain significance Single submitter
- ACOX3 p.Arg308Trp Uncertain significance Single submitter
- ACOX3 p.Arg423Leu Uncertain significance Single submitter
- ACOX3 p.Arg423Trp Uncertain significance Single submitter
- ACOX3 p.Arg436Leu Uncertain significance Single submitter
- ACOX3 p.Arg480His Uncertain significance Single submitter
- ACOX3 p.Arg527Gln Uncertain significance Single submitter
- ACOX3 p.Arg538Lys Uncertain significance Single submitter
- ACOX3 p.Arg585Gln Uncertain significance Single submitter
- ACOX3 p.Arg590Gln Uncertain significance Single submitter
- ACOX3 p.Asp642Ala Uncertain significance Single submitter
- ACOX3 p.Asp68Asn Uncertain significance Single submitter
- ACOX3 p.Gly129Ala Uncertain significance Single submitter
- ACOX3 p.Gly164Asp Uncertain significance Single submitter
- ACOX3 p.Gly428Arg Uncertain significance Single submitter
- ACOX3 p.Gly555Ser Uncertain significance Single submitter
- ACOX3 p.Gly668Ser Uncertain significance Single submitter
- ACOX3 p.Gly7Ala Uncertain significance Single submitter
- ACOX3 p.Gly8Asp Uncertain significance Single submitter
- ACOX3 p.His163Gln Uncertain significance Single submitter
- ACOX3 p.His224Gln Uncertain significance Single submitter
- ACOX3 p.His572Tyr Uncertain significance Single submitter
- ACOX3 p.Ile400Asn Uncertain significance Single submitter
- ACOX3 p.Leu377Val Uncertain significance Single submitter
- ACOX3 p.Leu515Val Uncertain significance Single submitter
- ACOX3 p.Leu525Pro Uncertain significance Single submitter
- ACOX3 p.Leu560Met Uncertain significance Single submitter
- ACOX3 p.Lys675Arg Uncertain significance Single submitter
- ACOX3 p.Met200Val Uncertain significance Single submitter
- ACOX3 p.Met44Leu Uncertain significance Single submitter
- ACOX3 p.Met44Thr Uncertain significance Single submitter
- ACOX3 p.Met96Ile Uncertain significance Single submitter
- ACOX3 p.Phe260Tyr Uncertain significance Single submitter
- ACOX3 p.Ser162Asn Uncertain significance Single submitter
- ACOX3 p.Ser31Asn Uncertain significance Single submitter
- ACOX3 p.Ser583Ala Uncertain significance Single submitter
- ACOX3 p.Ser687Phe Uncertain significance Single submitter
- ACOX3 p.Thr332Ser Uncertain significance Single submitter
- ACOX3 p.Val676Leu Uncertain significance Single submitter
Predictors split 106
The independent predictors disagree with each other — read with care.
- ACOX3 p.Ala157Ser Uncertain significance Single submitter
- ACOX3 p.Ala207Thr Uncertain significance Single submitter
- ACOX3 p.Ala261Ser Uncertain significance Single submitter
- ACOX3 p.Ala2Thr Uncertain significance Single submitter
- ACOX3 p.Ala2Val Uncertain significance Single submitter
- ACOX3 p.Ala361Thr Uncertain significance Single submitter
- ACOX3 p.Ala365Thr Uncertain significance Single submitter
- ACOX3 p.Ala402Thr Uncertain significance Single submitter
- ACOX3 p.Ala406Val Uncertain significance Single submitter
- ACOX3 p.Ala559Val Uncertain significance Single submitter
- ACOX3 p.Ala561Ser Uncertain significance Single submitter
- ACOX3 p.Ala596Val Uncertain significance Single submitter
- ACOX3 p.Ala605Val Uncertain significance Single submitter
- ACOX3 p.Ala645Thr Uncertain significance Single submitter
- ACOX3 p.Arg149Gly Benign Single submitter
- ACOX3 p.Arg171Gly Uncertain significance Single submitter
- ACOX3 p.Arg25Gln Uncertain significance Single submitter
- ACOX3 p.Arg270Cys Uncertain significance Single submitter
- ACOX3 p.Arg296Gly Uncertain significance Single submitter
- ACOX3 p.Arg296His Uncertain significance Single submitter
- ACOX3 p.Arg308Gln Uncertain significance Single submitter
- ACOX3 p.Arg333Gln Uncertain significance Single submitter
- ACOX3 p.Arg333Trp Uncertain significance Single submitter
- ACOX3 p.Arg334Cys Uncertain significance Single submitter
- ACOX3 p.Arg389Cys Uncertain significance Single submitter
- ACOX3 p.Arg436Trp Uncertain significance Single submitter
- ACOX3 p.Arg480Cys Uncertain significance Single submitter
- ACOX3 p.Arg556Cys Uncertain significance Single submitter
- ACOX3 p.Arg585Trp Uncertain significance Single submitter
- ACOX3 p.Arg602His Uncertain significance Single submitter
- ACOX3 p.Arg679Gln Uncertain significance Single submitter
- ACOX3 p.Arg679Trp Uncertain significance Single submitter
- ACOX3 p.Arg81Gln Uncertain significance Single submitter
- ACOX3 p.Arg84Trp Uncertain significance Single submitter
- ACOX3 p.Asn166Ser Uncertain significance Single submitter
- ACOX3 p.Asn463Ser Uncertain significance Single submitter
- ACOX3 p.Asp177Asn Uncertain significance Single submitter
- ACOX3 p.Asp22His Uncertain significance Single submitter
- ACOX3 p.Asp475Val Uncertain significance Single submitter
- ACOX3 p.Asp58Glu Uncertain significance Single submitter
- ACOX3 p.Asp95Val Uncertain significance Single submitter
- ACOX3 p.Asp9Asn Uncertain significance Single submitter
- ACOX3 p.Gln353Arg Uncertain significance Single submitter
- ACOX3 p.Gln459Arg Uncertain significance Single submitter
- ACOX3 p.Gln459Lys Uncertain significance Single submitter
- ACOX3 p.Gln632Arg Uncertain significance Single submitter
- ACOX3 p.Glu151Val Uncertain significance Single submitter
- ACOX3 p.Glu182Asp Uncertain significance Single submitter
- ACOX3 p.Glu191Lys Uncertain significance Single submitter
- ACOX3 p.Glu340Gly Uncertain significance Single submitter
- ACOX3 p.Glu34Ala Benign Single submitter
- ACOX3 p.Glu661Lys Uncertain significance Single submitter
- ACOX3 p.Glu76Lys Uncertain significance Single submitter
- ACOX3 p.Glu87Gln Uncertain significance Single submitter
- ACOX3 p.Glu87Lys Uncertain significance Single submitter
- ACOX3 p.Glu94Lys Uncertain significance Single submitter
- ACOX3 p.Gly164Ser Uncertain significance Single submitter
- ACOX3 p.Gly255Ser Uncertain significance Single submitter
- ACOX3 p.Gly41Arg Uncertain significance Single submitter
- ACOX3 p.Gly467Asp Uncertain significance Single submitter
- ACOX3 p.Gly555Arg Uncertain significance Single submitter
- ACOX3 p.Gly615Ser Uncertain significance Single submitter
- ACOX3 p.His124Tyr Uncertain significance Single submitter
- ACOX3 p.His368Arg Uncertain significance Single submitter
- ACOX3 p.Ile184Thr Uncertain significance Single submitter
- ACOX3 p.Ile247Thr Uncertain significance Single submitter
- ACOX3 p.Ile311Val Uncertain significance Single submitter
- ACOX3 p.Leu256Met Uncertain significance Single submitter
- ACOX3 p.Leu396Arg Uncertain significance Single submitter
- ACOX3 p.Leu457Val Uncertain significance Single submitter
- ACOX3 p.Leu489Met Uncertain significance Single submitter
- ACOX3 p.Leu526Phe Uncertain significance Single submitter
- ACOX3 p.Leu526Val Uncertain significance Single submitter
- ACOX3 p.Leu560Gln Uncertain significance Single submitter
- ACOX3 p.Leu607Phe Uncertain significance Single submitter
- ACOX3 p.Lys291Thr Uncertain significance Single submitter
- ACOX3 p.Met262Val Uncertain significance Single submitter
- ACOX3 p.Met351Ile Uncertain significance Single submitter
- ACOX3 p.Phe613Ile Uncertain significance Single submitter
- ACOX3 p.Pro233Leu Uncertain significance Single submitter
- ACOX3 p.Pro240Ser Uncertain significance Single submitter
- ACOX3 p.Pro282Leu Uncertain significance Single submitter
- ACOX3 p.Pro482Leu Uncertain significance Single submitter
- ACOX3 p.Pro557Leu Uncertain significance Single submitter
- ACOX3 p.Ser272Gly Uncertain significance Single submitter
- ACOX3 p.Ser372Leu Uncertain significance Single submitter
- ACOX3 p.Ser405Leu Uncertain significance Single submitter
- ACOX3 p.Ser503Tyr Uncertain significance Single submitter
- ACOX3 p.Ser504Gly Uncertain significance Single submitter
- ACOX3 p.Ser583Leu Uncertain significance Single submitter
- ACOX3 p.Thr159Ser Uncertain significance Single submitter
- ACOX3 p.Thr281Asn Uncertain significance Single submitter
- ACOX3 p.Thr285Ile Uncertain significance Single submitter
- ACOX3 p.Thr529Ser Likely benign Single submitter
- ACOX3 p.Trp598Gly Uncertain significance Single submitter
- ACOX3 p.Val208Met Uncertain significance Single submitter
- ACOX3 p.Val228Leu Uncertain significance Single submitter
- ACOX3 p.Val242Leu Uncertain significance Single submitter
- ACOX3 p.Val293Ile Uncertain significance Single submitter
- ACOX3 p.Val312Leu Likely benign Single submitter
- ACOX3 p.Val312Met Uncertain significance Single submitter
- ACOX3 p.Val323Met Uncertain significance Single submitter
- ACOX3 p.Val552Met Uncertain significance Single submitter
- ACOX3 p.Val563Met Likely benign Single submitter
- ACOX3 p.Val575Met Uncertain significance Single submitter
- ACOX3 p.Val626Ile Likely benign Single submitter
All ACOX3 variants
Conflicting classifications of pathogenicity 1
- p.Pro104Leu Single submitter ⚠
Benign 12
- p.Ala28= Multiple submitters
- c.144+7C>T Single submitter
- c.1653+4A>C Single submitter
- c.1897-6C>T Single submitter
- c.873+23G>A Single submitter
- p.Arg149Gly Single submitter ⚠
- p.Asp497Asn Single submitter
- p.Cys422= Single submitter
- p.Glu34Ala Single submitter ⚠
- p.Met150Leu Single submitter
- p.Ser614= Single submitter
- p.Thr566= Single submitter
Likely benign 20
- p.Arg75= Multiple submitters
- p.Ala105Thr Single submitter
- p.Ala639= Single submitter
- p.Arg149= Single submitter
- p.Arg382Gln Single submitter
- p.Arg480Pro Single submitter
- p.Arg63His Single submitter
- p.Glu616= Single submitter
- p.Gly494Asp Single submitter
- p.Leu468= Single submitter
- p.Ser405= Single submitter
- p.Ser412= Single submitter
- p.Ser698= Single submitter
- p.Thr39= Single submitter
- p.Thr529Ser Single submitter ⚠
- p.Val312Leu Single submitter ⚠
- p.Val439Asp Single submitter
- p.Val563Met Single submitter ⚠
- p.Val626Ile Single submitter ⚠
- c.378+11G>A No assertion criteria
Uncertain significance 147
- p.Ala157Ser Single submitter ⚠
- p.Ala207Thr Single submitter ⚠
- p.Ala261Ser Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala361Thr Single submitter ⚠
- p.Ala365Thr Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala402Thr Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Ala512Thr Single submitter ⚠
- p.Ala559Pro Single submitter ⚠
- p.Ala559Val Single submitter ⚠
- p.Ala561Ser Single submitter ⚠
- p.Ala596Val Single submitter ⚠
- p.Ala604Ser Single submitter ⚠
- p.Ala605Val Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Ala645Thr Single submitter ⚠
- p.Arg171Gly Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg231Pro Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg296Gly Single submitter ⚠
- p.Arg296His Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg308Trp Single submitter ⚠
- p.Arg333Gln Single submitter ⚠
- p.Arg333Trp Single submitter ⚠
- p.Arg334Cys Single submitter ⚠
- p.Arg389Cys Single submitter ⚠
- p.Arg423Leu Single submitter ⚠
- p.Arg423Trp Single submitter ⚠
- p.Arg436Leu Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Arg480Cys Single submitter ⚠
- p.Arg480His Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg538Lys Single submitter ⚠
- p.Arg556Cys Single submitter ⚠
- p.Arg585Gln Single submitter ⚠
- p.Arg585Trp Single submitter ⚠
- p.Arg590Gln Single submitter ⚠
- p.Arg602His Single submitter ⚠
- p.Arg679Gln Single submitter ⚠
- p.Arg679Trp Single submitter ⚠
- p.Arg81Gln Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Asn166Ser Single submitter ⚠
- p.Asn463Ser Single submitter ⚠
- p.Asp177Asn Single submitter ⚠
- p.Asp22His Single submitter ⚠
- p.Asp475Val Single submitter ⚠
- p.Asp58Glu Single submitter ⚠
- p.Asp642Ala Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Asp95Val Single submitter ⚠
- p.Asp9Asn Single submitter ⚠
- p.Gln353Arg Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Gln459Lys Single submitter ⚠
- p.Gln632Arg Single submitter ⚠
- p.Glu151Val Single submitter ⚠
- p.Glu182Asp Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu340Gly Single submitter ⚠
- p.Glu661Lys Single submitter ⚠
- p.Glu76Lys Single submitter ⚠
- p.Glu87Gln Single submitter ⚠
- p.Glu87Lys Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly129Ala Single submitter ⚠
- p.Gly164Asp Single submitter ⚠
- p.Gly164Ser Single submitter ⚠
- p.Gly255Ser Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Gly428Arg Single submitter ⚠
- p.Gly467Asp Single submitter ⚠
- p.Gly555Arg Single submitter ⚠
- p.Gly555Ser Single submitter ⚠
- p.Gly615Ser Single submitter ⚠
- p.Gly668Ser Single submitter ⚠
- p.Gly7Ala Single submitter ⚠
- p.Gly8Asp Single submitter ⚠
- p.His124Tyr Single submitter ⚠
- p.His163Gln Single submitter ⚠
- p.His224Gln Single submitter ⚠
- p.His368Arg Single submitter ⚠
- p.His572Tyr Single submitter ⚠
- p.Ile184Thr Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile311Val Single submitter ⚠
- p.Ile400Asn Single submitter ⚠
- p.Leu256Met Single submitter ⚠
- p.Leu377Val Single submitter ⚠
- p.Leu396Arg Single submitter ⚠
- p.Leu457Val Single submitter ⚠
- p.Leu489Met Single submitter ⚠
- p.Leu515Val Single submitter ⚠
- p.Leu525Pro Single submitter ⚠
- p.Leu526Phe Single submitter ⚠
- p.Leu526Val Single submitter ⚠
- p.Leu560Gln Single submitter ⚠
- p.Leu560Met Single submitter ⚠
- p.Leu607Phe Single submitter ⚠
- p.Lys291Thr Single submitter ⚠
- p.Lys675Arg Single submitter ⚠
- p.Met200Val Single submitter ⚠
- p.Met262Val Single submitter ⚠
- p.Met351Ile Single submitter ⚠
- p.Met44Leu Single submitter ⚠
- p.Met44Thr Single submitter ⚠
- p.Met96Ile Single submitter ⚠
- p.Phe260Tyr Single submitter ⚠
- p.Phe613Ile Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro240Ser Single submitter ⚠
- p.Pro282Leu Single submitter ⚠
- p.Pro482Leu Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Ser162Asn Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Ser31Asn Single submitter ⚠
- p.Ser372Leu Single submitter ⚠
- p.Ser405Leu Single submitter ⚠
- p.Ser503Tyr Single submitter ⚠
- p.Ser504Gly Single submitter ⚠
- p.Ser583Ala Single submitter ⚠
- p.Ser583Leu Single submitter ⚠
- p.Ser687Phe Single submitter ⚠
- p.Thr159Ser Single submitter ⚠
- p.Thr281Asn Single submitter ⚠
- p.Thr285Ile Single submitter ⚠
- p.Thr332Ser Single submitter ⚠
- p.Trp598Gly Single submitter ⚠
- p.Val208Met Single submitter ⚠
- p.Val228Leu Single submitter ⚠
- p.Val242Leu Single submitter ⚠
- p.Val293Ile Single submitter ⚠
- p.Val312Met Single submitter ⚠
- p.Val323Met Single submitter ⚠
- p.Val552Met Single submitter ⚠
- p.Val575Met Single submitter ⚠
- p.Val676Leu Single submitter ⚠