Fig. 1. Variants in NR2F2.

a Distribution of non-synonymous variants on the NR2F2 protein (NM_021005.4, NP_066285.1). The variants identified in this study are shown in black font, and the previously published variants (except one which is marked with #) are in colored font as per the reported phenotype/clinical features. The location of the functional domains in NR2F2 protein were adapted from Wang et al. 2019 [18]. b Schematic representation of the coding exons, the splice variants, and the 5’ UTR variant reported in the NR2F2 gene (NM_021005.4). ^#We also reviewed whole exome sequencing data from the Pediatric Cardiac Genomics Consortium (PCGC) cohort [37, 38], which consists of individuals with cardiac defects and identified one additional case with a rare de novo NR2F2 variant (p.(Gly98Ser), Supplementary Table 4). The cardiac phenotypes, in this case, were secundum atrial septal defect, left aortic arch with normal branching pattern. This case is not included in the current cohort but has been shown in Fig. 1. CHD congenital heart defect; CDH congenital diaphragmatic hernia; DSD disorders of sexual development including 46,XX DSD and 46,XY DSD; “Others” phenotype described in Arsov et al. 2021 [14] includes asplenia. Note that though many of the previously reported affected individuals were ascertained using a disease specific disease cohort, there might be other clinical manifestations which may or may not have been described [1, 14–27] and [Supplementary Table 1].