| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Isolated cleft palate +4 more | |
| | | Single nucleotide variant (missense variant) | Chromosome 2q32-q33 deletion syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability +2 more | |
Click to view in NCBI Gene