Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007315.4:c.185C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613796.4.1 | Saudi Arabia | Recurrent mycobacterial infections; Recurrent viral infections; Recurrent fungal infections | Male | No | Yes | |
| 613796.4.3 | Saudi Arabia | Female | Mother of 613796.4.1 |