| | | Indel (frameshift variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Duplication (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (frameshift variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Duplication (frameshift variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (nonsense +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (frameshift variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Indel (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (frameshift variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (splice donor variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Deletion (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Microsatellite (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (missense variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (intron variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | |
| | | Single nucleotide variant (synonymous variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |