| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Kleefstra syndrome 1 | |
Click to view in NCBI Gene