| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Mitochondrial complex 1 deficiency, nuclear type 5 +1 more | |
Click to view in NCBI Gene