| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 | |
| | | Deletion (frameshift variant) | Kleefstra syndrome 1 | |
| | | Microsatellite (frameshift variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Kleefstra syndrome 1 +1 more | |
| | | Microsatellite (frameshift variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Kleefstra syndrome 1 | |
| | | Microsatellite (frameshift variant) | Kleefstra syndrome 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Kleefstra syndrome 1 | |
| | | Deletion (splice acceptor variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Kleefstra syndrome 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Kleefstra syndrome 1 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene