| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | Combined oxidative phosphorylation defect type 13 +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 13 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene