Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.442G>C | 1 | |||
| NM_000243.3:c.2082G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.44 | Lebanon; United Arab Emirates | Periodic fever; Abnormal inflammatory response | Female | Deletion variant harbored involves exons 3 & 4 deletion |