| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Nail Dysplasia (SLCO2A1) | Predominant isolated congenital nail clubbing (ICNC) | Autosomal Recessive | 3q22.1-q22.2 | Substitution | SLCO2A1 | c.155T>A | p.Phe52Tyr) | Missense | M Umair et al., 2023/2023 |
