We found 86 pSNVs associated with human disease in the ClinVar database (Landrum et al, 2020) (Dataset EV9), including cancer predisposition (NF1, PMS2, FLCN, MSH6, APC), cardiovascular phenotypes (BMPR2, MYLK, VCL, LMNA), muscular dystrophy (SUN2, FLNC), natural killer cell and glucocorticoid deficiency (MCM4), autoimmune interstitial lung, joint, kidney disease (COPA), and renal cysts and diabetes syndrome (HNF1B). The gene discussed is PMS2; the disease is cystic kidney disease.