For instance, multiple VANGL1 missense variants have been identified in NTD cases, and the pathogenesis of many of these variants has been validated in numerous studies (Bartsch et al. 2012; Cai et al. 2014; Cheng et al. 2021; De Marco et al. 2014; Doudney et al. 2005; Fatima et al. 2022; Humphries et al. 2020; Iliescu et al. 2014, 2011; Kibar et al. 2007, 2009; Merello et al. 2015; Reynolds et al. 2010; Tian et al. 2020a, b; Wang et al. 2018). The gene discussed is VANGL1; the disease is neural tube defect.