| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myopia 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Fatal Infantile Cardioencephalomyopathy +2 more | |
Click to view in NCBI Gene