| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 28 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
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