| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ECHS1, LOC130005023 (A23P) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ECHS1, LOC130005023 (C21S) | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | |
| | ECHS1, LOC130005023 (V19fs) | Duplication (frameshift variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | |
Click to view in NCBI Gene