CHEK2:c.1260C>A (NM_007194), MLH1:c.1609C>T (NM_000249), MSH2:c.2362dupA (NM_000251), PMS2:c.690_691delGT (NM_000535) are detected pathogenic variants with HNPCC patients (Table 2). The gene discussed is MLH1; the disease is hereditary nonpolyposis colon cancer.