| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Familial Hypercholesterolemia (PCSK9) | Elevated levels of blood lipids | Autosomal Dominant | 1p32.3 | Missense | PCSK9 | 314G>A | Arg105Gln | Amino acid substitution | 0/Ahmed et al., 2013 |
| Familial Hypercholesterolemia (PCSK9) | Elevated levels of blood lipids | Autosomal Dominant | 1p32.3 | Missense | PCSK9 | 464C>T | Pro155Leu | Amino acid substitution | 0/Ahmed et al., 2013 |
