Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005630.2:c.838C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601460.1.1 | Lebanon | Clubbing of fingers ; Thickened skin ; Arthralgia | Male | Yes | ||
| 601460.1.3 | Lebanon | Female | Yes | Unaffected mother of 601460.1.1 |