| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 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 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 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 (synonymous 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more) | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | TSFM-related condition +2 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 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | TSFM-related condition +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | TSFM-related condition +2 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 +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 (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 | |