| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 24 | |
| | LOC130006506, NARS2 (N381S +1 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 24 | |
| | LOC130006506, NARS2 (N154D +1 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 24 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 24 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene