| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 55 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | See cases +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene