| | | Microsatellite (intron variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Microsatellite (non-coding transcript variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 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) | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (splice donor variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | DGUOK, LOC129934096 (P22L) | Single nucleotide variant (missense variant +2 more) | Migraine with aura +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more | |
| | DGUOK, DGUOK-AS1 (L250S +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 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 (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) | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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) | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | |
| | DGUOK, DGUOK-AS1 (L266R +4 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DGUOK, LOC129934096 (N46S) | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | DGUOK, DGUOK-AS1 (D255Y +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | DGUOK, DGUOK-AS1 (F162* +4 more) | Duplication (non-coding transcript variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |