| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129936729, NDUFAF3 (P25L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 18 | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 18 +1 more | |
Click to view in NCBI Gene