Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007315.4:c.603G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613796.8.1 | Saudi Arabia | Recurrent mycobacterial infections; Recurrent viral infections | Male | Yes | Yes | |
| 613796.8.2 | Saudi Arabia | Recurrent mycobacterial infections | Female | Yes | Yes | Sister of 613796.8.1 |
| 613796.8.4 | Saudi Arabia | Female | Mother of 613796.8.1 |