Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 +11 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +11 more | |
Click to view in NCBI Gene