| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | |
Click to view in NCBI Gene