NOD2 and Yao syndrome: NOD2 IVS8 + 158 (c.2798 + 158C>T) and R702W (c.2104C>T, p.Arg702Trp) have consistently been the most prevalent single variants in patients with YAOS, whereas 1007fs (c.3019dup, p.Leu1007Profs*2) and other low frequency or rare variants have been observed in small numbers of patients (13, 14, 17–19).