| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Chronic Pancreatitis (CFTR) | Hereditary Chronic Pancreatitis | Autosomal Dominant | 7q31.2 | Substitution | CFTR | c.388C>G | p.leu130val | Missense | Cheema et al, 2023/2023 |
