| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Seizures, benign familial infantile, 2 | |
| | | Duplication (frameshift variant) | Episodic kinesigenic dyskinesia +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Seizures, benign familial infantile, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Seizures, benign familial infantile, 2 | |
Click to view in NCBI Gene