Results of the current study, including pathway results and a very rare CNV overlapping GJA5 in this 1q21.1 CNV region (Figure 2 in Supporting Information S1, Table 3), add to previous studies that implicated GJA5 as a promising candidate gene for TOF [12], [20]. GJA5 codes for connexin40, a gap junction protein in a protein family known to be important in cardiac development and shown to be associated with TOF in mice [37]. Point mutations in GJA5 have also been reported in patients with arrhythmias [38], [39]. Here, GJA5 is linked to Arrhythmia.