| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 101 +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene