| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Microsatellite (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +1 more | |
| | | Single nucleotide variant (splice donor variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Intellectual disability | |
Click to view in NCBI Gene