| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
Click to view in NCBI Gene