| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis vulgaris (FLG) | Congenital erythroderma, dryness of skin, scaly flakes on the skin, Keratoderma | Autosomal Recessive | 1q21.3 | Nonsense | FLG | 6109C>T | Arg2037* | PTC | 2021/Fozia et al. 2021 |
| Ichthyosis (FLG) | Pale fine scaling, wrinkled skin, scant thin scalp hairs, and dystrophic nails with significant clubbing, eclabium, ectropion, and pruritus | Autosomal Recessive | 1q21.3 | Duplication | FLG | c.2767dupT | p.Ser923PhefsTer2 | Frameshift | Khan et al. 2023/2023 |
