| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | ECHS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Leigh syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene