| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
Click to view in NCBI Gene