| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nail Dysplasia, Isolated Type 3 (leukonychia) | Nail Whitening | Autosomal Recessive | 3p22.2 | Deletion | PLCD1 | 1792-10delTGTAGTGGCC | Frame shift mutation & PTC | 2011/Kiuru et al., 2011 | |
| Nail Dysplasia, Isolated Type 3 (leukonychia) | Nail Whitening | Autosomal Recessive | 3p22.2 | Nonsense | PLCD1 | 1309C>T | Arg437* | Premature Termination | 2011/Kiuru et al., 2011 |
| Nail Dysplasia, Isolated Type 3 (leukonychia) | Nail Whitening | Autosomal Dominant | 3p22.2 | Missense | PLCD1 | 1720C>T | Ala574Thr | Amino Acid Substitution | 2011/Kiuru et al., 2011 |
| Nail Dysplasia, Isolated Type 3 (leukonychia) | Nail Whitening | Autosomal Dominant | 3p22.2 | Missense | PLCD1 | 625T>C | Cys209Arg | Amino Acid Substitution | 2011/Kiuru et al., 2011 |
| Nail Dysplasia, Isolated Type 3 (leukonychia) | Nail Whitening | Autosomal Recessive | 3p22.2 | Duplication | PLCD1 | 2220-2223dupAGAG | Ser740Argfs*19 | Frame shift mutation & PTC | 2012/Mir et al., 2012 |
