| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability | |
| | | Deletion (splice donor variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal cerebral morphology | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +2 more | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability | |
| | | Duplication (nonsense +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
Click to view in NCBI Gene