| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | DGUOK-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | DGUOK-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | DGUOK-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (synonymous variant +2 more) | DGUOK-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |