| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Infantile Malignant Osteopetrosis(CLCN7) | abnormal bone remodelling | Autosomal Recessive | 16p13.3 | Missense Mutation | ?CLCN7 | 610A>T | Ser204Trp | Amino acid substitution | 0/Khan MA et.al.,,,2018 |
| Osteopetrosis-Infantile Malignant(CLCN7) | abnormal bone remodelling | Autosomal Recessive | 16p13.3 | Missense Mutation | CLCN7 | 610A>T | Ser204Trp | Amino acid substitution | 0/Khan MA et.al.,,2018 |
| Osteopetrosis (CLCN7) | Osteopetrosis, autosomal recessive 4 | Autosomal Recessive | 16p13.3 | Substitution | CLCN7 | c.2416T?>?A | p.*806Argext*58 | Stoploss | Liu et al, 2021/2021 |
