| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital atrichia (HR) | Alopecia, hair loss | Autosomal Recessive | 8p21.3 | Substitution | HR | c.2818C > T | p.Arg940* | Nonsense | A Ghazanfar et al., 2020/2020 |
