| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Osteopetrosis Infantile (TCIRG1) | increased bone density | Autosomal Recessive | 11q13.2 | Deletion | TCIRG1 | 624delC | Pro208ProfsX1 | FS & PTC | 0/Ajmal et al., 2017 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Substitution | TCIRG1 | c.515G?>?A | p.Gly172Asp | Missense | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Deletion | TCIRG1 | c.854_855del | p.Val285Alafs*204 | Frameshift | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Insertion | TCIRG1 | c.971dup | p.Cys324Trpfs*166 | Frameshift | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Splice site | TCIRG1 | c.1165?+?1G?>?A | ? | Splice site | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Splice site | TCIRG1 | c.1554?+?2T?>?A | ? | Splice site | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Splice site | TCIRG1 | c.1555-2A?>?G | ? | Splice site | Liu et al, 2021/2021 |
| Osteopetrosis (TCIRG1) | Osteopetrosis, autosomal recessive 1 | Autosomal Recessive | 11q13.2 | Duplication | TCIRG1 | c.971dup | p.Cys324Trpfs*166 | Frameshift | Liu et al, 2021/2021 |
