NOTCH2 and coronary artery disorder: However, OGM identified two SVs in this patient: a likely pathogenic 3.3 kb deletion in the 1p12 region overlapping the CHD-associated gene NOTCH2, and a 1.4 kb heterozygous deletion of uncertain significance affecting part of the 5′UTR and exons 1-3 of CEP164, which encodes a protein required for primary cilia assembly.