| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Nonsense | DSG1 | 76C>T | Arg26* | Premature Termination | 0/Dua-Awereh et al., 2009 |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Splice site | DSG1 | Ivs4-2A>G | Frame shift mutation | 0/Dua-Awereh et al., 2009 | |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Missense | DSG1 | 515C>T | Ala172Val | Amino Acid Substitution | 0/Dua-Awereh et al., 2009 |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Splice site | DSG1 | Ivs9-3C>G | Frame shift mutation & PTC | 0/Dua-Awereh et al., 2009 | |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Deletion | DSG1 | 1399delA | Frame shift mutation & PTC | 0/Dua-Awereh et al., 2009 | |
| Palmoplantar Keratoderma,Striate 1 (DSG1) | Hyperkeratosis on palms,sole & digits | Autosomal Dominant | 18q12.1 | Splice site | DSG1 | 1688 -1G>T | skipping of exon 12 | Frame shift mutation & PTC | 0/Barber et al., 2007 |
