| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Poirier-Bienvenu neurodevelopmental syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant | Intellectual disability-craniodigital syndrome | |
| | | Single nucleotide variant | Poirier-Bienvenu neurodevelopmental syndrome | |
Click to view in NCBI Gene