| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Pycnodysostosis (CTSK) | osteosclerotic skeletal dysplasia | Autosomal Recessive | 1q21.3 | Missense | CTSK | 728G>A | Gly243Glu | Amino Acid Substitution | 0/Khan et al., 2010 |
| Pycnodysostosis (CTSK) | osteosclerotic skeletal dysplasia | Autosomal Recessive | 1q21.3 | Missense | CTSK | 935C>T | Ala277Val | Amino Acid Substitution | 0/Naeem et al., 2009 |
| Pycnodysostosis (CTSK) | osteosclerotic skeletal dysplasia | Autosomal Recessive | 1q21.3 | Missense | CTSK | 136C>T | Arg46Trp | Amino Acid Substitution | 0/Pangrazio et al., 2014 |
| Pycnodysostosis (CTSK) | osteosclerotic skeletal dysplasia | Autosomal Recessive | 1q21.3 | Deletion | CTSK | 266_268del | Lys89del | 0/Pangrazio et al., 2014 |
