LDLR and hypercholesterolemia, familial, 1: We found four P/LP variants with relevant diseases/phenotypes that support pathogenicity, all of which are missense (Table 3): in LDLR, causing familial hypercholesterolemia-1 (MIM# 143890) [63]; MEF2A, causing coronary artery disease and myocardial infarction (MIM# 608320) [64]; CASR, causing autosomal dominant hypocalcemia (MIM# 601198) [65]; and in TBX5, which causes Holt-Oram syndrome (MIM# 142900) [66].