| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary pancreatitis +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Cystic fibrosis +2 more | |
Click to view in NCBI Gene