| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
Click to view in NCBI Gene