| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Intellectual disability +7 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | |
Click to view in NCBI Gene