| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Leukoencephalopathy, progressive, with ovarian failure +1 more | |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy, progressive, with ovarian failure | |
| | | Single nucleotide variant (nonsense +1 more) | Leukoencephalopathy, progressive, with ovarian failure | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 8 +4 more | GPathogenic/Likely pathogenic |
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