GATA4 and diaphragmatic hernia: The ClinVar database lists 32 sequence variants as pathogenic or likely pathogenic in the GATA4 gene, including nonsense, frameshift and missense variants.17 Most of these variants are related to structural congenital heart diseases, and a minority are related to testicular anomalies with or without congenital heart disease, whereas none are directly related to diaphragmatic hernia.