Sugi Variant

Sugi Variant/ACOX1

ACOX1 — 882 ClinVar variants

All ClinVar germline ACOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

34 Pathogenic · 10 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 25 Conflicting · 52 Benign · 7 Benign/Likely benign · 373 Likely benign · 347 Uncertain significance

Full ACOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 113

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

Predictors split 102

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

All ACOX1 variants

Pathogenic 34

  • p.Arg148Ter Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Arg302Ter Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Arg94Ter Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Asn501fs Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Val426fs Multiple submitters Mitchell syndrome
  • c.1728+1G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-1_277delinsA Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-1G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala12fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala469fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg65fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln120Ter Single submitter
  • p.Gln327Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln47Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His532_Tyr533insTer Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His93fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu367fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu494Ter Single submitter
  • p.Lys196Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys229fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Met141fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Met70_Val71insTer Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Phe107fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ser184Ter Single submitter
  • p.Ser294fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Thr374fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Trp175Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Tyr156Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Tyr303Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln309Arg No assertion criteria peroxisomal acyl-CoA oxidase deficiency
  • p.Gln466fs No assertion criteria peroxisomal acyl-CoA oxidase deficiency
  • p.Gly178Cys No assertion criteria peroxisomal acyl-CoA oxidase deficiency
  • p.Met278Val No assertion criteria peroxisomal acyl-CoA oxidase deficiency
  • p.Phe124_Asn129del No assertion criteria peroxisomal acyl-CoA oxidase deficiency

Pathogenic/Likely pathogenic 10

  • c.538+1G>A Multiple submitters Mitchell syndrome
  • p.Asn237Ser Multiple submitters Mitchell syndrome
  • p.Asp573fs Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Gln114Ter Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Gln47fs Multiple submitters Mitchell syndrome
  • p.Glu84Ter Multiple submitters Mitchell syndrome
  • p.Leu596_Thr597insTer Multiple submitters Mitchell syndrome
  • p.Ser438fs Multiple submitters Mitchell syndrome
  • p.Ser568fs Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Trp87Ter Multiple submitters peroxisomal acyl-CoA oxidase deficiency

Likely pathogenic 34

  • c.1729-2del Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.945-1G>C Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.110-2A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+2T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-1G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-1G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+1G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+1G>C Single submitter Mitchell syndrome
  • c.1729-1G>A Single submitter Muscle weakness
  • c.1729-2A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+1G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.539-2A>G Single submitter Mitchell syndrome
  • c.658+1G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.679_774+103del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+1G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala605fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn166fs Single submitter Mitchell syndrome
  • p.Gln320Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln328fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln552Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu118Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu140fs Single submitter Mitchell syndrome
  • p.Glu250Ter Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu485Ter Single submitter Mitchell syndrome
  • p.Gly178Ser Single submitter
  • p.Gly181Arg Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly224fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly618fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys542fs Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ser310Pro Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Tyr265Ter Single submitter Mitchell syndrome
  • p.Tyr454Ter Single submitter Mitchell syndrome
  • p.Val286fs Single submitter Mitchell syndrome
  • p.Val534_Val535insTer Single submitter Mitchell syndrome

Conflicting classifications of pathogenicity 25

  • c.1478+13T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-12A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-8C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.659-4G>A Single submitter Inborn genetic diseases
  • c.945-3T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg210His Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg556Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg59Pro Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn166Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn356= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln192Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly231Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly622= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys446Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ser184Leu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ser304= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Thr135= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Thr586Ala Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Tyr136= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Tyr275= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Tyr565= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Val170= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Val223Ile Single submitter Inborn genetic diseases ⚠
  • p.Val266Met Single submitter Mitchell syndrome ⚠
  • p.Val607= Single submitter peroxisomal acyl-CoA oxidase deficiency

Benign 52

Benign/Likely benign 7

  • c.269+4780G>A Multiple submitters Mitchell syndrome
  • p.Arg307= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Arg591Cys Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn456= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Glu318= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Phe434= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Pro27Leu Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠

Likely benign 373

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1936-87A>C Multiple submitters
  • c.538+71C>T Multiple submitters
  • p.Asn570= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Asp236= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Asp24= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Leu240= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Val448= Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.109+11C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.109+12G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.109+16_109+17insT Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.109+20C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.109+9G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-10C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-10C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-11C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-12A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-14dup Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-18C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-7C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-8C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-8C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-9C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+10T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+12del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+12G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+15T>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+16_1107+18del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+17A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1107+7G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-10G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-15T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-16G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-17T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-5C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-7C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-8C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-8C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1298+14C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1298+17C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1298+18G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1298+7G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-3del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-7del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-9G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1299-9G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+10C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+11C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+12C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+14C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+18A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+20C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1478+8C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-12_1479-11del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-14C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-17A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-18C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-20T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1479-7T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+10_1584+11del Single submitter
  • c.1584+10A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+16_1584+19del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+16C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+17T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+18C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+18C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+8G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1585-12T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1585-12T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+16G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+16G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+18A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+18A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+18A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+19T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1729-16T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1729-18_1729-13del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1729-4T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1729-6T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+13T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+14_1935+15del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+16C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+17T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+19T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1935+7A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-13C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-13C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-16T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-192C>T Single submitter
  • c.1936-195A>C Single submitter
  • c.1936-20_1936-18del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-287G>T Single submitter
  • c.1936-5C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-7C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-7C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-8C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1936-91dup Single submitter
  • c.1936-9T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+11C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+14A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+16A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+18C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+20G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+20G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+4517C>T Single submitter
  • c.269+4539G>A Single submitter
  • c.269+4774_269+4787del Single submitter
  • c.269+7A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-13T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-18C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-4G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-5C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-5C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.270-8C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+10A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+10A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+11T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+17C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+181A>G Single submitter
  • c.430+20C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+7A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.430+9T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-11T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-13T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-15A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-18T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-19A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-20A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-5C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.431-6C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.538+10T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.538+13_538+14del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.538+17G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.538+19A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.538+7G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.539-20T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.539-9del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.658+10G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.658+13C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.658+13C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.658+9T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.659-12C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.659-19G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.659-9C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.775-13G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.775-14C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.775-17C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.775-24A>G Single submitter
  • c.944+14C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+18G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+304C>T Single submitter
  • c.944+8T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+9A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-11A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-13C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-15T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-4G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-5C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-7C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.945-9G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.-74dup Single submitter
  • c.*1813C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2575T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3988A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4250T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4551C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5134A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala117= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala127= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala137= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala257= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala296= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala300= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala336= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala346= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala372= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala486= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala499= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala571= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala603= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala63= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala636= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala80= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg122= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg302= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg33= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg354= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg393= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg462= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg556= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg56= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg7= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg75= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg9= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn2= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn237= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn271= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn38= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn42= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn478= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn52= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asn589= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asp157= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asp522= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asp573= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asp611= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Asp625= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Cys531= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln309= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln328= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln361= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln547= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln552= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln584= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gln657= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu118= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu121= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu151= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu162= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu234= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu481= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu61= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu648= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu98= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly134= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly149= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly224= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly227= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly345= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly376= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly397= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly398= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly445= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly566= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly572= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly618= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly626= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly95= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His113= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His203= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His21= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His215= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His308= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His353= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His403= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His647= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His652= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.His93= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile132= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile206= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile212= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile221= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile226= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile301= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile40= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile497= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile507= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile551= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile79= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu104= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu108= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu147= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu165= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu218= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu23= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu269= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu273= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu293= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu322= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu334= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu364= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu367= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu377= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu429= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu435= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu447= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu458= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu483= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu494= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu5= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu518= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu538= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu54= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu544= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu555= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu561= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu564= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu595= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu596= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu598= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu641= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu653= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu656= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys182= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys198= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys216= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys260= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys29= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys446= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys488= Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys510= Single submitter peroxisomal acyl-CoA oxidase deficiency

Uncertain significance 347

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1478+5G>T Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.658+4A>G Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.-76C>G Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • c.*2267A>G Multiple submitters peroxisomal acyl-CoA oxidase deficiency
  • p.Ala296Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala346Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala375Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala499Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala553Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala571Ser Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala571Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg122Cys Multiple submitters Inborn genetic diseases
  • p.Arg122His Multiple submitters Inborn genetic diseases
  • p.Arg210Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg246His Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg32Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg393Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg462Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg490Cys Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg490Gly Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg490His Multiple submitters Mitchell syndrome ⚠
  • p.Arg591His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg6Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg6Ser Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg94Gln Multiple submitters Inborn genetic diseases
  • p.Arg96Gln Multiple submitters ACOX1-related disorder
  • p.Asp476Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gln361His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu357Lys Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu594Lys Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly263Ala Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly572Glu Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly78Asp Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.His113Gln Multiple submitters Inborn genetic diseases
  • p.Ile206Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile235Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu41Pro Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu502Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu51Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu543Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Lys174Arg Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Lys241Arg Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Pro27Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro44Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Ser270Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser511Ile Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ser67Arg Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr153Ile Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr473Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr597Ile Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Tyr439His Multiple submitters Inborn genetic diseases ⚠
  • p.Val207Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val514Ala Multiple submitters peroxisomal acyl-CoA oxidase deficiency ⚠
  • c.109+7G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.110-3C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1108-15T>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1298+3G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1584+6T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.1728+4A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+10C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.269+4787A>G Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • c.269+4909G>A Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • c.269+4911T>A Single submitter
  • c.539-3C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.658+3A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.659-19G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.774+11A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+6G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.944+7A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.-92C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1014A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1021C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1023A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1034T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1083C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1096C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1126A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1172A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1276A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1431A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1434C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1458A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*155A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1678C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1738A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1743G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1756G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1809A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1853T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1938C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*1985C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2021C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2021C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2235G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2239A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2451A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2559G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2584C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2625T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2644G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2688C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2699C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2736G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2737C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2746C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2843A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2875C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2887C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2926T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*2969A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3060T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3105C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3207T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3345C>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3421T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3531dup Single submitter
  • c.*3551G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3576T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3621C>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3628C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3665C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3779A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3915C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*3944G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4021C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4039G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4259C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4317_*4318dup Single submitter
  • c.*4346G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4387G>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*441G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4484A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4489C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4516G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4579C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4590G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4766G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*478T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4806A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*481G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4820T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*4876C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5000G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5028T>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5037T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5092A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*5117A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*620G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*660A>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*676G>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*678T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*720C>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*721A>G Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*756G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*765G>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*840A>T Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*932T>C Single submitter peroxisomal acyl-CoA oxidase deficiency
  • c.*959T>A Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala117Val Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala127Thr Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ala12Pro Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala154Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala191Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala305Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala346Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala372Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala379Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala492Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala499Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala499Val Single submitter Inborn genetic diseases ⚠
  • p.Ala550Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala571Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ala603Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg122Leu Single submitter Inborn genetic diseases
  • p.Arg246Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg291Trp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg31Gln Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg31Trp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg32Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg354Trp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg393Gln Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg462Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg462His Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg525Gln Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg556Trp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg56Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg591Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg600Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg600Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg623Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Arg6Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg96Trp Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Arg9Gly Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn15Ile Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn244Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn2Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn424Asp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn456Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asn478Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp243Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp24Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp440Asn Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp457Asn Single submitter ⚠
  • p.Asp4Asn Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp4Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp522Glu Single submitter ⚠
  • p.Asp522Gly Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp602His Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Asp83Glu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Cys392Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Cys531Tyr Single submitter ⚠
  • p.Gln342Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gln361Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gln47His Single submitter Inborn genetic diseases ⚠
  • p.Gln552Glu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gln576His Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gln613Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln657Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu121Lys Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Glu350Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu357Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu37Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu481Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu485Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu528Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu648Asp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu648Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Glu98Gln Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Gly179Glu Single submitter ⚠
  • p.Gly227Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly25Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly287Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly315Asp Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly360Ser Single submitter ⚠
  • p.Gly376Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly388Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly406Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly445Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Gly618Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.His353Gln Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.His508Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.His647Gln Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ile299Leu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ile497Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ile567Leu Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Ile585Met Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ile585Val Single submitter Inborn genetic diseases ⚠
  • p.Ile69Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile69Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu104Phe Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Leu23Pro Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu429Pro Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu489Phe Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu558Phe Single submitter Mitchell syndrome ⚠
  • p.Leu560Met Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Leu606Val Single submitter Loeys-Dietz syndrome 2 ⚠
  • p.Lys182Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Lys272Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Lys542Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys637Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys73del Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Lys89Thr Single submitter Inborn genetic diseases ⚠
  • p.Met106Thr Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Met125Ile Single submitter peroxisomal acyl-CoA oxidase deficiency
  • p.Met39Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met451Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met474Thr Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met474Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met580Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met70Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Met86Val Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Phe107Val Single submitter
  • p.Phe230Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Phe46Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe91Tyr Single submitter Inborn genetic diseases
  • p.Pro177Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro217Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Pro317Leu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Pro3Leu Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Pro480Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ser405Asn Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Ser563Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser578Arg Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr155Lys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr155Met Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr169Pro Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr195Ala Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr195Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr374Ile Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr374Ser Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr425Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr425Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr431Met Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr519Asn Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr519Ile Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Thr586Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr597Pro Single submitter ⚠
  • p.Tyr232Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Tyr329Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠
  • p.Tyr339Cys Single submitter peroxisomal acyl-CoA oxidase deficiency ⚠