| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Lamb-Shaffer syndrome | |
| | | Single nucleotide variant (nonsense) | Lamb-Shaffer syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Lamb-Shaffer syndrome +1 more | |
| | | Copy number gain | Pallister-Killian syndrome | |
Click to view in NCBI Gene