| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +2 more | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Generalized-onset seizure +1 more | |
| | | Duplication | Epilepsy +1 more | |
Click to view in NCBI Gene