| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 11 +2 more | |
| | | Deletion (frameshift variant) | Episodic ataxia, type 9 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Episodic ataxia, type 9 +2 more | |
Click to view in NCBI Gene