| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Osteopetrosis (OSTM1) | Osteopetrosis, autosomal recessive 5 | Autosomal Recessive | 6q21 | Deletion | OSTM1 | c.124del | p.Val42Serfs*57 | Frameshift | Liu et al, 2021/2021 |
