| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pancreatic Agenesis Isolated (PTF1A) | Pancreatic agenesis | Autosomal Recessive | 10p12.2 | Missense | PTF1A | 363A>G | Amino Acid Substitution | 0/Weedon et al., 2014 |
