Among the 19 cases with isolated omphalocele confirmed by follow-up, we observed a VUS (rs760463569) in CDKN1C in two cases (cases 16 and 20) and a rare variant of KCNQ1OT1:TSS-DMR in one case (case 19). The gene discussed is KCNQ1OT1; the disease is omphalocele.