Germline GATA2 Registry

All ascertained germline GATA2 variants are visualized using the ProteinPaint web application (https://pecan.stjude.cloud/home)(Zhou et al., 2016). Variants (displayed as protein changes where possible) are color coded according to mutation effect. The number of probands for each variant is indicated within the circle where the number is greater than one.  All variants are annotated to NM_032638.5.