| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130067862, SCO2
+1 more (S471L +1 more) | Single nucleotide variant (missense variant +1 more) | Fatal Infantile Cardioencephalomyopathy +3 more | |
| | LOC130067862, SCO2
+1 more | Single nucleotide variant (synonymous variant +2 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex IV deficiency, nuclear type 1 +4 more | |
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