| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | |
| | ECHS1, LOC130005023 (W24*) | Single nucleotide variant (nonsense) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene