Four disease–associated genes in the proband presented VUS: APC, APOB, DSG2, and DSP, respectively associated with familial adenoma polyposis, homozygous familial hypercholesterolemia and hereditary cardiac disease (Awad et al., 2008; Basso et al., 2017; Defesche et al., 2017). The gene discussed is APOB; the disease is familial hypercholesterolemia.