| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| | | Insertion (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more | GPathogenic/Likely pathogenic |
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