| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Chronic Pancreatitis (LPL) | Hereditary Chronic Pancreatitis | Autosomal Recessive | 16p13.3 | Insertion | LPL | c.1160_1161insT | p.Lys387Asnfs*26 | Frameshift | Cheema et al, 2023/2023 |
| Hereditary Chronic Pancreatitis (LPL) | Hereditary Chronic Pancreatitis | Autosomal Recessive | 16p13.3 | Substitution | LPL | c.784C>T | p.Gln262* | Nonsense | Cheema et al, 2023/2023 |
| Hereditary Chronic Pancreatitis (LPL) | Hereditary Chronic Pancreatitis | Autosomal Recessive | 16p13.3 | Splice site | LPL | c.1139+1G>A | ? | Splice site | Cheema et al, 2023/2023 |
| Hereditary Chronic Pancreatitis (LPL) | Hereditary Chronic Pancreatitis | Autosomal Recessive | 16p13.3 | Substitution | LPL | c.175G>A | p.Gly59Arg | Missense | Cheema et al, 2023/2023 |
