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Variants in this and other genes encoding BAF\/PBAF complexes have been implicated in Coffin\u2013Siris Syndrome, a multiple congenital anomaly syndrome classically characterized by learning and developmental differences, coarse facial features, hypertrichosis, and underdevelopment of the fifth digits\/nails of the hands and feet. Individuals with <jats:italic>SMARCA4<\/jats:italic> variants have been previously reported and appear to display a variable phenotype. We describe here a cohort of 15 unrelated individuals with <jats:italic>SMARCA4<\/jats:italic> variants from the Coffin\u2013Siris syndrome\/BAF pathway disorders registry who further display variability in severity and degrees of learning impairment and health issues. Within this cohort, we also report two individuals with novel nonsense variants who appear to have a phenotype of milder learning\/behavioral differences and no organ\u2010system involvement.<\/jats:p>","DOI":"10.1002\/ajmg.a.61732","type":"journal-article","created":{"date-parts":[[2020,7,20]],"date-time":"2020-07-20T08:48:40Z","timestamp":1595234920000},"page":"2058-2067","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The variability of <scp><i>SMARCA4<\/i><\/scp>\u2010related <scp>Coffin\u2013Siris<\/scp> syndrome: Do nonsense candidate variants add to milder phenotypes?"],"prefix":"10.1002","volume":"182","author":[{"given":"Dong","family":"Li","sequence":"first","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca 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