| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 57 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 57 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 57 | |
Click to view in NCBI Gene