| | | Single nucleotide variant | not provided | |
| | | Variation | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +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) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +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 +2 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 +1 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) | Leigh syndrome | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Microsatellite (frameshift variant) | Leigh syndrome +10 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) | not specified +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) | Mitochondrial complex IV deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Deletion (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Duplication (inframe_insertion) | Leigh syndrome | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Duplication (frameshift variant) | Leigh syndrome | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Duplication (inframe_insertion) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |