| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112637025, LOC112639999 +656 more | Copy number gain | See cases | |
| | LOC130003086, LOC130003087 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Variation | not provided | |
| | | 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 (stop lost) | Leigh syndrome | |
| | | Single nucleotide variant (stop lost) | Leigh syndrome | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Duplication (nonsense) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant) | Leigh syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | SURF1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Microsatellite (frameshift variant) | SURF1-related condition +11 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (nonsense) | Leigh syndrome | |
| | | Duplication (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Duplication (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Deletion (intron variant) | Leigh syndrome | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (splice donor variant) | Leigh syndrome | |
| | | Deletion (splice donor variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice donor variant) | Leigh syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |