Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001042492.3:c.6374T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162200.10.2 | United Arab Emirates | Cafe-au-lait spot; Neurofibromas | Male | Yes | No | Father of 162200.10.1 |