| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypercholesterolemia familial (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Insertion | LDLR | c.2416_ 2417InsG | p.Val806Glyfs*11 | Frame shift and PTC | 0/Ajmal et al., 2010 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Insertion | LDLR | c.2416_ 2417InsG | p.Val806Glyfs*11 | Frame shift and PTC | 0/Ajmal et al., 2010 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Del-Insertion | LDLR | c.1019_1020delinsTG | Cys340Leu | Frame shift and PTC | 0/Ahmed et al., 2013 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | G545E | LDLR | 1634G>A | Gly545Glu | Amino acid substitution | 0/Ahmed et al., 2013 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Missense | LDLR | 1916T>G | Val639Gly | Amino acid substitution | 0/Ahmed et al., 2012 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Missense | LDLR | 1211C>T | Thr404Ile | Amino acid substitution | 0/Ahmed et al., 2012 |
| Familial Hypercholesterolemia (LDLR) | Elevated levels of blood lipids | Autosomal Dominant | 19p13.2 | Missense | LDLR | 1214 A>C | Asn405Thr | Amino acid substitution | 0/Ahmed et al., 2012 |
