| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Insertion (frameshift variant) | Intellectual disability | |
Click to view in NCBI Gene