Pedigrees, phenotypes, and genotypes of families and individuals carrying rare germ line MECOM variants. (A-F) Pedigrees with germ line MECOM variants. Affected individuals (gray), MECOM mutation carriers (+), MECOM WT (−). (G) X-ray images from 3-II-4 demonstrating RUS and absent patella. (H) Copy neutral loss of heterozygosity in 3-II-4 across chromosome 3q encompassing the MECOM germ line variant and leading to somatic genetic rescue. (I) Distribution of germ line MECOM variants (NM_004991.4) visualized using ProteinPaint web application. AA, aplastic anemia; ECT, ectopic pregnancy; FDIU, fetal death in utero; SAB, spontaneous abortion; TOP, termination of pregnancy.