| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis Bullosa Junctional (LAMB3) | Epidermolysis bullosa, junctional | Autosomal Recessive | 1q32.2 | Substitution | LAMB3 | c.1705C>T) | p.Arg569* | Nonsense | Khan et al. 2021/2021 |
