| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Abnormality of the nervous system +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy 106 | |
Click to view in NCBI Gene