| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Osteogenesis Imperfecta,Type 11 (FKBP10) | Bone fragility | Autosomal Recessive | 17q21.2 | Nonsense | FKBP10 | 1490G>A | Trp497* | Premature Termination | 0/Umair et al., 2016 |
| Osteogenesis Imperfecta,Type 11 (FKBP10) | Bone fragility | Autosomal Recessive | 17q21.2 | Missense | FKBP10 | 344G>A | Arg115Gln | Amino Acid Substitution | 0/Umair et al., 2016 |
| Osteogenesis Imperfecta,Type 11 (FKBP10) | Bone fragility | Autosomal Recessive | 17q21.2 | Duplication | FKBP10 | 831dupC | Gly278Argfs*295 | Frame shift mutation & PTC | 0/Umair et al., 2016 |
