| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Generalized epilepsy with febrile seizures plus, type 10 +5 more | |
Click to view in NCBI Gene