| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Tufting Enteropathy(EPCAM) | chronic diarrhea & emesis | Autosomal Recessive | 2p21 | Nonsense | EPCAM | 412C>T | Arg137* | Premature Termination | 0/Sivagnanam et al., 2009 |
