| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000404.4:c.1768C>T | 14 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 230500.G.1 | United Arab Emirates | 3 patients from an Emirati family | ||||
| 230500.G.3 | United Arab Emirates | 6 Palestinian patients with infantile onset of the disease |