| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 2 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 2 | |
| | | Single nucleotide variant (nonsense) | Angelman syndrome-like +1 more | |
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