| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 +2 more | GPathogenic/Likely pathogenic |
| | COX15, LOC130004506 (G14A) | Single nucleotide variant (missense variant +2 more) | not provided | |
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