| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Epilepsy, childhood absence, susceptibility to, 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability | |
Click to view in NCBI Gene