| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with or without early-onset generalized epilepsy | |
Click to view in NCBI Gene