| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Proximal 16p11.2 microdeletion syndrome | |
| | | Duplication (frameshift variant) | Episodic kinesigenic dyskinesia 1 | |
| | | Duplication (frameshift variant) | Seizure +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic kinesigenic dyskinesia 1 +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene