| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts +2 more | |
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