| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation deficiency 44 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex IV deficiency, nuclear type 1 | |
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