Case 2 (19ZC131) has eight missense variants within several genes, including Gly407Ser at LDLR, associated with familial hypercholesterolemia 1 phenotype (OMIM#143890) and also the rs5030737 polymorphism in the MBL2 gene, previously associated with mannose-binding lectin deficiency and chronic infections (OMIM#614372). The gene discussed is LDLR; the disease is homozygous familial hypercholesterolemia.