| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000336.2:c.1871G>A | 1 | |||
| NM_001369.2:c.8765G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 211400.1 | United Arab Emirates | Bronchiectasis; Recurrent respiratory infections | Male | Yes | Yes | Paternal uncles with chronic lung disease and infertility |
| 211400.2 | United Arab Emirates | Recurrent pneumonia; Aspiration; Abnormality of the respiratory system; Lipid-laden macrophages in bronchoalveolar fluid | Unknown |