| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Atypical Gaucher disease (PSAP) | Gaucher disease, atypical | Autosomal Recessive | 10q22.1 | Substitution | PSAP | c.1076A>C | p.(Glu359Ala) | Missense | Liaqat et al., 2022/2022 |
