| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +6 more | |
| | TYMP, LOC130067861
+1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more | |
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