| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Palmoplantar Keratoderma,Mal de Meleda (SLURP-1) | Well-demarcated erythema & keratosis | Autosomal Recessive | 8q24.3 | Nonsense | SLURP-1 | 286C>T | Arg96* | Premature Termination | 0/wajid et al., 2009 |
| Palmoplantar Keratoderma,Mal de Meleda (SLURP-1) | Well-demarcated erythema & keratosis | Autosomal Recessive | 8q24.3 | Missense | SLURP-1 | 256G>A | Gly86Arg | Amino Acid Substitution | 0/wajid et al., 2009 |
| Palmoplantar Keratoderma,Mal de Meleda (SLURP-1) | Well-demarcated erythema & keratosis | Autosomal Recessive | 8q24.3 | Splice site | SLURP-1 | Ivs1 + 1 G>A | Frame shift mutation | 0/wajid et al., 2009 |
