| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001146289.1:c.1365_1366delinsC | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610915.3 | Lebanon | Recurrent fractures; Dentinogenesis imperfecta | Male | Yes | ||
| 610915.4 | Lebanon | Multiple prenatal fractures; Brachycephaly; Triangular face; Wormian bones; Osteopenia | Female | Yes | ||
| 610915.6 | Lebanon | Recurrent infections | Male | Yes | Yes | |
| 610915.7 | Lebanon | Osteopenia; Pulmonary hypoplasia; Recurrent fractures | Male | Yes | Yes |