| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, progressive, with ovarian failure | |
| | | Duplication (frameshift variant) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Leukoencephalopathy, progressive, with ovarian failure | |
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