Fig. 5

Pathogenic variant landscape in the Initiative on Rare and Clinical Diseases (IRUD). a Breakdown of pathogenic variants. Diagnosis was established in 2247of 5136 pedigrees. A total of 1718 pathogenic variants were identified in 657 known aberrated genes, among which 1113 were novel (64.8%). b Overview of the frequencies of pathogenic variants in each gene. The number of novel pathogenic variants (shown in blue) and that of known pathogenic variants (shown in orange) in individual genes were arranged in the order of the total number of pathogenic variants. The most frequent gene was CHD7 with 31 pathogenic variants, whereas 298 of the genes had only one pathogenic variant. Inset: genes identified in >7 pedigrees