| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 26 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 26 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 26 | |
Click to view in NCBI Gene