| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Non-bullous congenital ichthyosiform erythroderma (NCIE,ABCA12) | Non-bullous congenital ichthyosiform erythroderma | Autosomal Recessive | 2q35 | Substitution | ABCA12 | c.4676G>T | p.G1559V | Missense | Nawaz et al., 2012/2012 |
