| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | Specific learning disability +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +3 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 +3 more | |
Click to view in NCBI Gene