| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Keratosis pilaris atrophicans (LRP1) | perifollicular keratosis & inflammation | Autosomal Recessive | 12q13.3 | Missense | LRP1 | 3734A>G | Lys1245Arg | Amino Acid Substitution | 0/Klar et al., 2015 |
