| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis Bullosa Junctional | Epidermolysis bullosa, junctional | Autosomal Recessive | 18q11.2 | Insertion | LAMA3 | c.151insG | p. Val51Glyfs*54 | Frameshift | Khan et al. 2021/2021 |
