| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Gaucher disease, type I (GBA) | Gaucher disease, type I | Autosomal Recessive | 1q22 | Missense | GBA | c.1448T>C | Leu483Pro | Amino acid substitution | Cheemaet et al.,/2020 |
