| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Microsatellite (intron variant) | Mitochondrial complex 4 deficiency, nuclear type 4 | |
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | |
Click to view in NCBI Gene