| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1) | non-Herlitz junctional epidermolysis | Autosomal Recessive | 10q25.1 | Nonsense | COL17A1 | 4041T>G | Tyr1347* | PTC | 2021/Fozia et al. 2021 |
| Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1) | non-Herlitz junctional epidermolysis | Autosomal Recessive | 10q25.1 | Missense | COL17A1 | 3067C>T | Gln1023* | PTC | 2021/Fozia et al. 2021 |
