| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | |
| | | Deletion (frameshift variant) | Intellectual disability +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability +2 more | |
Click to view in NCBI Gene