| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant nocturnal frontal lobe epilepsy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Deletion (nonsense) | Landau-Kleffner syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +11 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene