| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial oxidative phosphorylation disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (nonsense) | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease | |
Click to view in NCBI Gene