Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000551.3:c.227T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 193300.4.2 | Lebanon | Hemangioblastoma | Male | Yes | Son of 193300.4.1 | |
| 193300.4.3 | Lebanon | Hemangioblastoma | Female | Yes | Mother of 193300.4.1 | |
| 193300.4.4 | Lebanon | Hemangioblastoma | Female | Yes | Brother of 193300.4.1 |