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