For example, the importance of small variants in noncoding regions is well-established, as illustrated by examples such as a variant in the promoter region of GATA1 affecting a transcription factor binding site, leading to hereditary persistence of fetal hemoglobin (Martyn et al, 2019), or a variant disrupting upstream open reading frames of the NF2 gene causing neurofibromatosis type 2 (Whiffin et al, 2020). The gene discussed is GATA1; the disease is neurofibromatosis.