| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Leigh syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene