| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (splice donor variant +1 more) | Mitochondrial DNA depletion syndrome 8a | |
| | | Deletion (frameshift variant +1 more) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | |
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