| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Developmental delay with or without intellectual impairment or behavioral abnormalities | |
| | | Copy number gain | Developmental delay with or without intellectual impairment or behavioral abnormalities | |
| | | Deletion | Developmental delay with or without intellectual impairment or behavioral abnormalities | |
Click to view in NCBI Gene