| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy, infantile or early childhood, 2 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy, infantile or early childhood, 2 | |
| | | Microsatellite (inframe_deletion) | Epileptic encephalopathy, infantile or early childhood, 2 | |
Click to view in NCBI Gene