| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aminoglycoside-induced deafness +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +2 more) | Aminoglycoside-induced deafness +3 more | GConflicting classifications of pathogenicity |
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