| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay | |
| | SLC6A1, SLC6A1-AS1 (W135* +1 more) | Single nucleotide variant (nonsense +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myoclonic-astatic epilepsy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene