| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (missense variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Aminoglycoside-induced deafness +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene