| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 4K +1 more | GPathogenic/Likely pathogenic |
| | | 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) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (5 prime UTR variant +1 more) | See cases +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 +3 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +3 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | Leigh syndrome +3 more | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +4 more | |
| | | Indel (5 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 +10 more | |