| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene