Trisomy 8 (n = 6), monosomy 7 (n = 3), STAG2 variants (n = 3), ASXL1 variants (n = 2), a combination of somatic variants in RUNX1/CSF3R/PHF6/FBXW7 (n = 1), and variants in the following MDS genes[33] were observed once in separate individuals: BCOR, SETBP1, U2AF1, and somatic GATA2. One adult GATA2 deficient patient who developed AML had an unbalanced translocation der(1;7) in the leukemic clone. Here, PHF6 is linked to acute myeloid leukemia.