Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015627.2:c.406C>T | 4 | |||
| NM_000527.4:c.1171G>A | 4 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603813.G.2.1 | Lebanon | Increased LDL cholesterol concentration | Unknown | Yes | Group of 11 patients | |
| 603813.G.2.2 | Lebanon | Increased LDL cholesterol concentration; Xanthomatosis | Unknown | Yes | Group of 9 patients | |
| 603813.G.2.3 | Lebanon | Increased LDL cholesterol concentration; Xanthomatosis | Unknown | Yes | Group of 2 patients |