| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Chronic Pancreatitis (CTRC) | Pancreatitis, chronic, susceptibility to | Autosomal Dominant | 1p36.21 | Substitution | CTRC | c.378C>T | p.Lys126Asn | Missense | Cheema et al, 2023/2023 |
| Hereditary Chronic Pancreatitis (CTRC) | Pancreatitis, chronic | Autosomal Dominant | 1p36.21 | Substitution | CTRC | c.719G>A | p.Arg240Gln | Missense | Cheema et al, 2023/2023 |
