| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Hypotonia, ataxia, and delayed development syndrome +1 more | |
| | ECHS1, LOC130005023 (W24*) | Single nucleotide variant (nonsense) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GConflicting classifications of pathogenicity |
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