| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 4 | |
| | | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts +3 more | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
Click to view in NCBI Gene