| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4K | |
| | | Single nucleotide variant (splice donor variant) | Leigh syndrome | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 4K +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Leigh syndrome +3 more | |
| | | Deletion (frameshift variant) | Leigh syndrome +2 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +3 more | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | not provided +3 more | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +4 more | |
| | | Indel (5 prime UTR variant +1 more) | SURF1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Microsatellite (frameshift variant) | SURF1-related disorder +11 more | |