| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Indel (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | DYRK1A-related intellectual disability syndrome +3 more | |
| | | Duplication (frameshift variant) | Absent or delayed speech development +5 more | |
| | | Duplication (frameshift variant) | Absent or delayed speech development +5 more | |
| | | Single nucleotide variant (missense variant) | Absent or delayed speech development +5 more | |
| | | Duplication (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Deletion | Absent or delayed speech development +5 more | |
Click to view in NCBI Gene