In contrast, pathogenic germline variants in GATA1 are mostly missense mutations in exon 4 (NM_002049.3) encoding the amino-terminal zinc finger protein domain (also known as the Nf domain, residues 204–237 based on UniProtKB reference P15976) and are associated with X-linked anemia, neutropenia, thrombocytopenia, and platelet abnormalities, but not leukemias (Fig. 4) (Ciovacco et al. 2008). Here, NFASC is linked to Thrombocytopenia.