| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis Congenital, LI associated (TGM1) | Thick, large, darkbrown scaly body | Autosomal Recessive | 14q11 | Missense | TGM1 | 1363T>C | Trp455Arg | Amino Acid Substitution | 0/Ullah et al., 2015 |
| Ichthyosis Congenital, LI associated (TGM1) | Thick, large, darkbrown scaly body | Autosomal Recessive | 14q11 | Splice site | TGM1 | 2088 + 1G>A | Exon skipping | 2021/Fozia et al. 2021 | |
| Congenital ichthyosis ARCI1 (TGM1) | Slight to restrained hyperkeratotic plaques, heat sensitivity, mild erythroderma, ectropion, pruritus, anhidrosis, keratoderma, eclabium, and dermatitis | Autosomal Recessive | 14q11 | Substitution | TGM1 | c.232C>T | p.Arg78Ter | Missense | Khan et al. 2023/2023 |
| Congenital Ichthyosis (TGM1) | Ichthyosis, congenital, autosomal recessive 1 | Autosomal Recessive | 14q12 | Substitution | TGM1 | c. 131G >A | p.Trp44* | Nonsense | Almazroea et al.,/2023 |
