| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Leigh syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Dysarthria +10 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Leigh syndrome | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant +1 more) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (R386H +1 more) | Single nucleotide variant (missense variant) | not provided +4 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 +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Cerebral palsy +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene