Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002458.2:c.16861G>T | 2 | |||
| NM_017802.3:c.1292T>C | 1 | |||
| NM_015512.4:c.4609G>A | 1 | |||
| NM_005411.5:c.630C>G | 1 | |||
| NM_001013703.3:c.665C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 178500.1.1 | United Arab Emirates | Recurrent respiratory infections; Atelectasis | Male | Yes | Yes | Several variants could be contributing to phenotype |