| | | Deletion (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Deletion (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | LOC130002899, SURF1 (S22fs) | Deletion (frameshift variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | GPathogenic/Likely pathogenic |
| | LOC130002899, SURF1 (G17*) | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Deletion (splice donor variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Leigh syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Duplication (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Duplication (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 4 deficiency, nuclear type 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |