| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Alpha-Mannosidosis (MAN2B1) | Mannosidosis, alpha-, types I and II | Autosomal Recessive | 19p13.13 | Splice | MAN2B1 | c.1644+4A>G | Splicing | Cheema et al.,/2020 |
