| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy, 28 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 28 | |
| | | Single nucleotide variant (splice acceptor variant) | WWOX-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 | |
| | | Deletion | Developmental and epileptic encephalopathy, 28 | |
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