| | | Deletion (3 prime UTR variant) | Mitochondrial DNA depletion syndrome 8a +4 more | |
| | | Single nucleotide variant (intron variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +4 more | |
| | | Single nucleotide variant (missense variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
| | | Single nucleotide variant (synonymous variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more | |
| | | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome 8a +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 8a +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Deletion (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 8a +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 8a +3 more | GPathogenic/Likely pathogenic |