| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Spinal muscular atrophy (BICD2) | Spinal muscular atrophy, lower extremity-predominant, 2A, | Autosomal Dominant | 9q22.31 | Substitution | BICD2 | c.2156A>T | p.Lys719Met | Missense | Saadi et al., 2023/2023 |
