| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (nonsense) | O'Donnell-Luria-Rodan syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder +5 more | |
| | | Copy number loss | Intellectual disability | |
Click to view in NCBI Gene