| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Leigh syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Deletion (3 prime UTR variant +2 more) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Leigh syndrome +11 more | |
| | | Single nucleotide variant (splice acceptor variant) | Leigh syndrome | |
| | | Insertion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene