| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
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