In the first case, a 28-year-old (patient P52) got a diagnosis of “definite” familial hypercholesterolemia (DLCN score of 18, a history of myocardial infarction at the age of 24; percutaneous transluminal coronary angioplasty at ages 25 and 26 years); rare variants chr19:11217342 and chr19:11221441 were identified in exons 5 and 7 of the LDLR gene (Table 2). The gene discussed is LDLR; the disease is familial hypercholesterolemia.