| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (nonsense) | Mitchell syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Mitchell syndrome +1 more | |
| | | Deletion (frameshift variant) | Acyl-CoA oxidase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Acyl-CoA oxidase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mitchell syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Acyl-CoA oxidase deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Acyl-CoA oxidase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Acyl-CoA oxidase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | ACOX1-related disorders +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mitchell syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acyl-CoA oxidase deficiency | |
| | | Indel (splice acceptor variant +1 more) | Acyl-CoA oxidase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Acyl-CoA oxidase deficiency | |
| | | Single nucleotide variant (nonsense) | Mitchell syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mitchell syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene