| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Chronic Pancreatitis (CPA1) | Hereditary Chronic Pancreatitis | Autosomal Dominant | Splice site | CPA1 | c.586-3C>A | ? | Splice site | Cheema et al, 2023/2023 | |
| Hereditary Chronic Pancreatitis (CPA1) | Hereditary Chronic Pancreatitis | Autosomal Dominant | Substitution | CPA1 | c.763A>G | p.Arg255Gly | Missense | Cheema et al, 2023/2023 |
