| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (nonsense) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 5 | |
| | | Single nucleotide variant | Developmental and epileptic encephalopathy, 5 | |
Click to view in NCBI Gene