| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis Bullosa Dystrophica (COL7A1) | EB Dystrophica | Autosomal Dominant | 3p21.31 | Substitution | COL7A1 | c.6209G>A | p.Gly2070Glu | Missense | Khan et al. 2021/2021 |
| Epidermolysis Bullosa Dystrophica (COL7A1) | EB Dystrophica | Autosomal Recessive | 3p21.31 | Substitution | COL7A1 | c.1573C>T | (p.Arg525*) | Nonsense | Khan et al. 2021/2021 |
| Dystrophic epidermolysis bullosa (COL7A1) | Semi-dominant inheritance in dystrophic epidermolysis bullosa | 3p21.31 | Substitution | COL7A1 | c.1573 C > T | p.(Arg525*) | Nonsense | Sattar et al., 2025/2025 |
