| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis Bullosa (ITGB4) | Epidermolysis bullosa, junctional 5A, intermediate/Epidermolysis bullosa, junctional 5B, with pyloric atresia | Autosomal Recessive | 17q25.1 | Substitution | ITGB4 | c.1285G>T | p.(Asp429Tyr)m | Missense | Khan et al. 2021/2021 |
| Epidermolysis Bullosa (ITGB4) | Epidermolysis bullosa, junctional 5A, intermediate/Epidermolysis bullosa, junctional 5B, with pyloric atresia | Autosomal Recessive | 17q25.1 | Substitution | ITGB4 | c.3373G>G | p.(Gly1125Ser) | Missense | Khan et al. 2021/2021 |
