Appropriate phenotypic clustering of PPGVs in specific CSGs was observed, e.g., VHL in kidney (7.7%), BRCA1/2 in breast (2.0% and 3.2%, respectively) and ovarian (5.4% and 3.3%), BRCA2 in prostate (3.0%), and mismatch repair pathway (MMR) genes in uterine (MSH2 0.9%, MSH6 3.9%, PMS2 0.8%, MLH1 0.9%) and colorectal (MSH2 0.6%, MSH6 1.8%, PMS2 0.5%, MLH1 0.8%) cancers (Supplementary Fig. 6). The gene discussed is PMS2; the disease is cancer.