The spectrum of hematological phenotypes reported with different germline RUNX1 mutations. The protein (p.) changes are shown, for frameshift (fs), stop-gain (*), and missense variants. Splice-site variants are shown with the cDNA change (c.), and (partial) gene deletions are abbreviated. CLL/SLL, chronic lymphocytic leukemia/small lymphocytic lymphoma; CMMoL, chronic myelomonocytic leukemia; Del, deletion; DLBCL, diffuse large B-cell lymphoma; Dup, duplication; Ex, Exon; HCL, hairy cell leukemia; MF, myelofibrosis; SCC, squamous cell carcinoma.