| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial oxidative phosphorylation disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 11 | |
| | | Single nucleotide variant (intron variant +1 more) | Combined oxidative phosphorylation defect type 11 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene