| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| | LOC130067862, SCO2
+1 more (Q350*) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
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