Researchers studied 201 individuals carrying 158 different POGZ variants to explore how the type and location of a variant relates to clinical features. Protein-truncating variants (PTVs) were linked to a broader and more severe range of symptoms—including developmental delay and speech delay—especially when located in the last two exons of the gene. Missense variants generally caused milder features, but were more frequently associated with autism. These findings suggest that knowing exactly where and what type of POGZ change a patient has could help guide clinical care.