| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Congenital diaphragmatic hernia +1 more | |
| | | Deletion (frameshift variant) | Congenital diaphragmatic hernia +1 more | |
| | | Single nucleotide variant (missense variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome +3 more | |
Click to view in NCBI Gene