AOX1 — 140 ClinVar variants

All ClinVar germline AOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

9 Benign · 1 Benign/Likely benign · 16 Likely benign · 114 Uncertain significance

Full AOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 62

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

Predictors split 54

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

All AOX1 variants

Benign 9

p.Ala1083Gly Multiple submitters
p.Arg130= Multiple submitters
p.Gln314Arg Multiple submitters
p.Gln737= Multiple submitters
p.Ile598Asn Multiple submitters ⚠
p.Leu553= Multiple submitters
p.Pro1245= Multiple submitters
p.Ser1264= Multiple submitters
c.907+3G>A Single submitter

Benign/Likely benign 1

p.Val1040= Multiple submitters

Likely benign 16

p.Pro702= Multiple submitters
c.3076-4T>G Single submitter
p.Arg483= Single submitter
p.Arg801Lys Single submitter
p.Cys670= Single submitter
p.Gln408Glu Single submitter
p.Glu239= Single submitter
p.His1229Tyr Single submitter
p.His335Arg Single submitter
p.Ile570Val Single submitter
p.Ile76Thr Single submitter ⚠
p.Lys1318= Single submitter
p.Lys667Glu Single submitter
p.Phe920Leu Single submitter ⚠
p.Val280Ile Single submitter
p.Val800= Single submitter

Uncertain significance 114

p.Ala4Pro Single submitter ⚠
p.Ala819Ser Single submitter ⚠
p.Ala822Thr Single submitter ⚠
p.Ala878Ser Single submitter ⚠
p.Arg1021Cys Single submitter ⚠
p.Arg1061His Single submitter ⚠
p.Arg1073Cys Single submitter ⚠
p.Arg388Gln Single submitter ⚠
p.Arg420Gly Single submitter ⚠
p.Arg495Gly Single submitter ⚠
p.Arg495Lys Single submitter ⚠
p.Arg848Gly Single submitter ⚠
p.Asn1260Ile Single submitter ⚠
p.Asn436Asp Single submitter ⚠
p.Asn826Lys Single submitter ⚠
p.Asn826Ser Single submitter ⚠
p.Asn896Ser Single submitter ⚠
p.Asn997Ser Single submitter ⚠
p.Asp1200Asn Single submitter ⚠
p.Asp1200Gly Single submitter ⚠
p.Asp182Glu Single submitter ⚠
p.Asp365Val Single submitter ⚠
p.Asp453Gly Single submitter ⚠
p.Asp770Gly Single submitter ⚠
p.Asp783Val Single submitter ⚠
p.Cys117Tyr Single submitter ⚠
p.Cys161Arg Single submitter ⚠
p.Cys654Tyr Single submitter ⚠
p.Cys910Tyr Single submitter ⚠
p.Gln172Lys Single submitter ⚠
p.Gln389Leu Single submitter ⚠
p.Gln532His Single submitter ⚠
p.Glu1160Lys Single submitter ⚠
p.Glu175Lys Single submitter ⚠
p.Glu24Lys Single submitter ⚠
p.Glu394Lys Single submitter ⚠
p.Glu435Ter Single submitter
p.Glu513Gly Single submitter ⚠
p.Glu529Gln Single submitter ⚠
p.Glu724Lys Single submitter ⚠
p.Glu958Gly Single submitter ⚠
p.Gly1024Ala Single submitter ⚠
p.Gly1088Val Single submitter ⚠
p.Gly1206Asp Single submitter ⚠
p.Gly1232Val Single submitter ⚠
p.Gly1298Glu Single submitter ⚠
p.Gly307Asp Single submitter ⚠
p.Gly39Arg Single submitter ⚠
p.Gly43Arg Single submitter ⚠
p.Gly510Arg Single submitter ⚠
p.Gly637Ala Single submitter ⚠
p.Gly944Arg Single submitter ⚠
p.His110Tyr Single submitter ⚠
p.His1284Arg Single submitter ⚠
p.His557Arg Single submitter ⚠
p.His575Gln Single submitter ⚠
p.His586Asn Single submitter ⚠
p.Ile1113Leu Single submitter ⚠
p.Ile781Met Single submitter ⚠
p.Ile78Val Single submitter ⚠
p.Ile974Thr Single submitter ⚠
p.Ile974Val Single submitter ⚠
p.Leu1214Phe Single submitter ⚠
p.Leu140Ser Single submitter ⚠
p.Leu379Phe Single submitter ⚠
p.Leu503Val Single submitter ⚠
p.Leu545Phe Single submitter ⚠
p.Leu674Phe Single submitter ⚠
p.Lys474Arg Single submitter ⚠
p.Lys511Arg Single submitter ⚠
p.Lys515Arg Single submitter ⚠
p.Lys515Glu Single submitter ⚠
p.Lys856Glu Single submitter ⚠
p.Lys995Arg Single submitter ⚠
p.Met1067Lys Single submitter ⚠
p.Met223Thr Single submitter ⚠
p.Met489Val Single submitter ⚠
p.Met860Arg Single submitter ⚠
p.Met889Thr Single submitter ⚠
p.Phe255Cys Single submitter ⚠
p.Phe277Tyr Single submitter ⚠
p.Phe669Tyr Single submitter ⚠
p.Pro1239Ala Single submitter ⚠
p.Pro135Thr Single submitter ⚠
p.Pro199Leu Single submitter ⚠
p.Pro212Ala Single submitter ⚠
p.Pro23Arg Single submitter ⚠
p.Pro370Ser Single submitter ⚠
p.Pro508Ser Single submitter ⚠
p.Pro583Ser Single submitter ⚠
p.Pro636Ala Single submitter ⚠
p.Pro702Leu Single submitter ⚠
p.Ser1147Ala Single submitter ⚠
p.Ser230Leu Single submitter ⚠
p.Ser551Asn Single submitter ⚠
p.Ser5Phe Single submitter ⚠
p.Ser682Ala Single submitter ⚠
p.Ser874Asn Single submitter ⚠
p.Ser985Phe Single submitter ⚠
p.Ser987Phe Single submitter ⚠
p.Thr1077Ala Single submitter ⚠
p.Thr38Ile Single submitter ⚠
p.Tyr126Cys Single submitter ⚠
p.Tyr567His Single submitter ⚠
p.Val1030Leu Single submitter ⚠
p.Val1090Gly Single submitter ⚠
p.Val1332Ile Single submitter ⚠
p.Val16Met Single submitter ⚠
p.Val247Met Single submitter ⚠
p.Val271Leu Single submitter ⚠
p.Val322Gly Single submitter ⚠
p.Val540Ile Single submitter ⚠
p.Val696Ile Single submitter ⚠
p.Val761Ile Single submitter ⚠