Total 88 pathogenic variants reported for Acyl-CoA oxidase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004035.7(ACOX1):c.832A>G (p.Met278Val) SNV
Germline		 Chr17:75953563 Pathogenic Acyl-CoA oxidase deficiency No Assertion Criteria Provided
 CA115025 rs_118204090

1 SubmittersRCV000001564
NM_004035.7(ACOX1):c.532G>T (p.Gly178Cys) SNV
Germline		 Chr17:75957465 Pathogenic Acyl-CoA oxidase deficiency No Assertion Criteria Provided
 CA115027 rs_118204091

1 SubmittersRCV000001565
NM_004035.7(ACOX1):c.926A>G (p.Gln309Arg) SNV
Germline		 Chr17:75953469 Pathogenic Acyl-CoA oxidase deficiency No Assertion Criteria Provided
 CA115029 rs_118204092

1 SubmittersRCV000001566
NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter) SNV
Germline		 Chr17:75957555 Pathogenic Acyl-CoA oxidase deficiency
Condition: not provided
Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115031 rs_118204093

3 SubmittersRCV000001567RCV000579187RCV005016222
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) SNV
Germline		 Chr17:75978627 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA210000 rs_777937235

3 SubmittersRCV000196696RCV004526641
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) SNV
Germline		 Chr17:75951454 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8776854 rs_374533122

3 SubmittersRCV000281263
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) SNV
Germline		 Chr17:75955673 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8776946 rs_143260706

4 SubmittersRCV000394254RCV002523024
NM_004035.7(ACOX1):c.659-4G>A SNV
Germline		 Chr17:75955685 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8776947 rs_746563980

4 SubmittersRCV000311073RCV002521126
NM_004035.7(ACOX1):c.510G>A (p.Val170=) SNV
Germline		 Chr17:75957487 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8777002 rs_752375436

2 SubmittersRCV000333395
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) SNV
Germline		 Chr17:75948320 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA10650234 rs_886053456

2 SubmittersRCV000363067
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) SNV
Germline		 Chr17:75948365 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8776649 rs_762221413

2 SubmittersRCV000270591
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) SNV
Germline		 Chr17:75953483 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8776895 rs_144826451

4 SubmittersRCV000342530RCV003884474
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) SNV
Germline		 Chr17:75955630 Pathogenic/Likely pathogenic Mitchell syndrome
ACOX1-related disorder
Condition: not provided
Acyl-CoA oxidase deficiency
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401067617 rs_1567876984

11 SubmittersRCV001250273RCV001731902RCV001268145RCV002249428RCV002532882
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) SNV
Germline		 Chr17:75955912 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Inborn genetic diseases
ACOX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8776982 rs_200833797

5 SubmittersRCV000970654RCV004029954RCV004553480
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) SNV
Germline		 Chr17:75960240 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8777036 rs_142474717

3 SubmittersRCV000967651
NM_004035.7(ACOX1):c.1756A>G (p.Thr586Ala) SNV
Germline		 Chr17:75948430 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8776666 rs_533088955

3 SubmittersRCV000892068RCV003141890
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) SNV
Germline		 Chr17:75957500 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
ACOX1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8777003 rs_145056278

4 SubmittersRCV000878989RCV004738045RCV004792568
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) SNV
Germline		 Chr17:75953570 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8776908 rs_542159010

3 SubmittersRCV000908526
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) SNV
Germline		 Chr17:75949250 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
ACOX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA8776694 rs_774049893

4 SubmittersRCV000920089RCV004551843
NM_004035.7(ACOX1):c.538+1G>A SNV
Germline		 Chr17:75957458 Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome
Acyl-CoA oxidase deficiency
Mitchell syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401068762 rs_1466419887

5 SubmittersRCV001057444RCV003462568RCV005021392RCV005630861
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) SNV
Germline		 Chr17:75960237 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8777035 rs_779313800

2 SubmittersRCV001124775
NM_004035.7(ACOX1):c.1479-12A>G SNV
Germline		 Chr17:75949612 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA1139665890 rs_2065755060

2 SubmittersRCV001125688
NM_004035.7(ACOX1):c.1478+13T>C SNV
Germline		 Chr17:75949705 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8776765 rs_199908120

2 SubmittersRCV001125689
NM_004035.7(ACOX1):c.270-8C>G SNV
Germline		 Chr17:75960383 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8777060 rs_751892262

2 SubmittersRCV001125765
NM_004035.7(ACOX1):c.658+1G>T SNV
Germline		 Chr17:75955827 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA8776963 rs_779732414

1 SubmittersRCV001210719
NM_004035.7(ACOX1):c.1101G>A (p.Leu367=) SNV
Germline		 Chr17:75951421 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8776849 rs_186993093

2 SubmittersRCV001464043RCV003136083
NM_004035.7(ACOX1):c.431-1G>A SNV
Germline		 Chr17:75957567 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA294111578 rs_773710550

2 SubmittersRCV001844331
NM_004035.7(ACOX1):c.1478+1G>A SNV
Germline		 Chr17:75949717 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401060736 rs_2144237287

1 SubmittersRCV001968888
NM_004035.7(ACOX1):c.468T>A (p.Tyr156Ter) SNV
Germline		 Chr17:75957529 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401069254 rs_542410903

1 SubmittersRCV001975129
NM_004035.7(ACOX1):c.1668G>C (p.Arg556Ser) SNV
Germline		 Chr17:75949277 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Inborn genetic diseases
Condition: not provided
ACOX1-related disorder		 Criteria Provided
Conflicting Classifications
 CA401059912 rs_1449232218

4 SubmittersRCV001886455RCV002552806RCV004693855RCV004738418
NM_004035.7(ACOX1):c.110-2A>G SNV
Germline		 Chr17:75978695 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401084113 rs_2144330766

1 SubmittersRCV001995770
NM_004035.7(ACOX1):c.945-1G>C SNV
Germline		 Chr17:75951578 Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401064719 rs_2144242585

2 SubmittersRCV002016830RCV003475287
NM_004035.7(ACOX1):c.551C>T (p.Ser184Leu) SNV
Germline		 Chr17:75955935 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 CA8776983 rs_780887410

2 SubmittersRCV002028340RCV003120797
NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter) SNV
Germline		 Chr17:75960365 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA401071902 rs_780675610

2 SubmittersRCV002249225
NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter) SNV
Germline		 Chr17:75953491 Pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8776897 rs_536723496

2 SubmittersRCV002254400RCV003475314
NM_004035.7(ACOX1):c.1337A>G (p.Lys446Arg) SNV
Germline		 Chr17:75949859 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8776794 rs_755673462

2 SubmittersRCV003073894RCV003883866
NM_004035.7(ACOX1):c.796G>A (p.Val266Met) SNV
Germline		 Chr17:75953599 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Conflicting Classifications
 CA8776913 rs_145971170

2 SubmittersRCV002611304RCV004698576
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter) SNV
Germline		 Chr17:75978553 Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401082195 rs_2546097855

2 SubmittersRCV002710560RCV003475415
NM_004035.7(ACOX1):c.1729-2A>G SNV
Germline		 Chr17:75948459 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401059645 rs_2065742650

1 SubmittersRCV002886386
NM_004035.7(ACOX1):c.945-3T>C SNV
Germline		 Chr17:75951580 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8776870 rs_762422999

2 SubmittersRCV002947930RCV006442868
NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter) SNV
Germline		 Chr17:75978543 Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency
Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA401081989 rs_2546097846

2 SubmittersRCV003031607RCV005019566
NM_004035.7(ACOX1):c.1728+1G>A SNV
Germline		 Chr17:75949216 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401059692 rs_2546074464

1 SubmittersRCV003228206
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg) SNV
Germline		 Chr17:75955945 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401068258 rs_2546079926

1 SubmittersRCV003486001
NM_004035.7(ACOX1):c.909C>G (p.Tyr303Ter) SNV
Germline		 Chr17:75953486 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA8776896 rs_750610720

1 SubmittersRCV003495487
NM_004035.7(ACOX1):c.979C>T (p.Gln327Ter) SNV
Germline		 Chr17:75951543 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401064390 rs_1423636259

1 SubmittersRCV003496318
NM_004035.7(ACOX1):c.944+1G>T SNV
Germline		 Chr17:75953450 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401065034 rs_2546077768

1 SubmittersRCV003495571
NM_004035.7(ACOX1):c.928T>C (p.Ser310Pro) SNV
Germline		 Chr17:75953467 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA8776891 rs_758962364

1 SubmittersRCV003494755
NM_004035.7(ACOX1):c.629G>A (p.Arg210His) SNV
Germline		 Chr17:75955857 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency Criteria Provided
Conflicting Classifications
 CA8776969 rs_372701360

2 SubmittersRCV003496777
NM_004035.7(ACOX1):c.525G>A (p.Trp175Ter) SNV
Germline		 Chr17:75957472 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA8777000 rs_759944879

1 SubmittersRCV003601603
NM_004035.7(ACOX1):c.1299-1G>T SNV
Germline		 Chr17:75949898 Likely pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401061591 rs_2546075268

1 SubmittersRCV003602277
NM_004035.7(ACOX1):c.139C>T (p.Gln47Ter) SNV
Germline		 Chr17:75978664 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter
 CA401083803 rs_2546098054

1 SubmittersRCV003835471
NM_004035.7(ACOX1):c.1654C>T (p.Gln552Ter) SNV
Germline		 Chr17:75949291 Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005026128
NM_004035.7(ACOX1):c.1299-1G>C SNV
Germline		 Chr17:75949898 Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005022763
NM_004035.7(ACOX1):c.748G>T (p.Glu250Ter) SNV
Germline		 Chr17:75955592 Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005022764
NM_004035.7(ACOX1):c.692G>T (p.Gly231Val) SNV
Germline		 Chr17:75955648 Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency
Mitchell syndrome
Acyl-CoA oxidase deficiency		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005022765RCV005112693
NM_004035.7(ACOX1):c.430+1G>A SNV
Germline		 Chr17:75960214 Likely pathogenic Acyl-CoA oxidase deficiency
Mitchell syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005022766
NM_004035.7(ACOX1):c.586A>T (p.Lys196Ter) SNV
Germline		 Chr17:75955900 Pathogenic Acyl-CoA oxidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005115430
NM_004035.7(ACOX1):c.340C>T (p.Gln114Ter) SNV
Germline		 Chr17:75960305 Pathogenic/Likely pathogenic Condition: not provided
Acyl-CoA oxidase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006276995RCV006475452