| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split-hand/foot malformation (SHFM) | Split-hand/foot malformation | Autosomal Dominant | 19q13.11 | Deletion | UBA2 | c.1118del | p.(Arg373Asnfs*21) | Frameshift | Parveen et al., 2023/2023 |
