These included a recurrent missense SNV rs121913250 (p.G12S) in highly conserved region of NRAS associated with acute myeloid leukemia and juvenile myelomonocytic leukemia, found in three cases; a frameshift insertion p.L160fs in NPM1, associated with myelodysplastic syndrome progressed to acute myeloid leukemia, found in one case; a missense SNV p.R730H in highly conserved region of Dnmt3a, associated with acute myeloid leukemia, myelodysplastic syndrome, lung adenocarcinoma, and inborn genetic diseases, found in one case; and a splicing SNV in CBL (exon8:c.1096-2A > T) found in one case. The gene discussed is NPM1; the disease is myelodysplastic syndrome.