| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +2 more | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
Click to view in NCBI Gene