| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis Bullosa, Junctional Herlitz Type | Herlitz junctional epidermolysis | Autosomal Recessive | 18q11.2 | Nonsense | LAMA3 | Arg650* | Premature Termination | 0/McGrath et al., 1996 |
