| 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 (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | 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) | not provided +1 more | |
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