Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.1647T>G | 1 | |||
| NM_002458.2:c.16861G>T | 2 | |||
| NM_139276.3:c.373C>G | 2 | |||
| NM_001277115.1:c.8072A>G | 1 | |||
| NM_017802.3:c.1292T>C | 1 | |||
| NM_015512.4:c.4609G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 178500.1.2 | United Arab Emirates | Recurrent pneumonia; Atelectasis; Bronchiectasis | Male | Yes | Yes | Sibling of 178500.1.1; Several variants could be contributing to phenotype |