Two novel, rare TG variants (p.L2547Q, predicted to be pathogenic by PolyPhen and SIFT, and p.R1691C, of less certain significance) were also identified in this kindred, yet neither of these variants segregated with transient CH in the DUOX2 p.Q570L heterozygotes, suggesting digenic mutations in the genes screened did not explain the phenotypic variability associated with this genotype. The gene discussed is DUOX2; the disease is cyclic hematopoiesis.