| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 +12 more | GPathogenic/Likely pathogenic |
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