| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| | | Single nucleotide variant (missense variant) | Persistent truncus arteriosus | |
| | | Single nucleotide variant (missense variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| | | Deletion (frameshift variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
| | | Microsatellite (frameshift variant) | Atrioventricular septal defect 5 | |
| | | Deletion (frameshift variant) | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | |
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