| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032790.3:c.493dup | 5 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612782.1.1 | United Arab Emirates | History of congenital CMV infection; Hypotonia; History of bone marrow transplant | Male | Yes | Yes | The patient also had two deceased siblings and a deceased cousin with a history of recurrent infections and hypotonia. |
| 612782.1.2 | United Arab Emirates | Hypotonia; Recurrent infections; History of bone marrow transplant | Female | Yes | Yes | Sister of 612782.1.1 |