| | | Single nucleotide variant (3 prime UTR variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leigh syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Leigh syndrome +4 more | |
| | | Microsatellite (splice acceptor variant) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 4K +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | SURF1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Leigh syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leigh syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant | Leigh syndrome +1 more | |