Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153218.4:c.827del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618795.1.1 | Lebanon | Juvenile rheumatoid arthritis; Lymphadenopathy; Quotidian fever; Elevated circulating C-reactive protein concentration; Thrombocytopenia; Acute lymphoblastic leukemia | Female | Yes | Yes | Proband |
| 618795.1.2 | Lebanon | Juvenile rheumatoid arthritis; Elevated circulating C-reactive protein concentration | Female | Yes | Yes | Sister of 618795.1.1 |
| 618795.1.4 | Lebanon | Female | Mother of 618795.1.1 |