| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Combined oxidative phosphorylation defect type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |