| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and variable seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with dysmorphic facies and variable seizures +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene