SMARCA4 encodes a central ATPase subunit in the BRG1‐/BRM‐associated factors (BAF) or polybromo‐associated BAF (PBAF) complex in humans, which is responsible in part for chromatin remodeling and transcriptional regulation. Variants in this and other genes encoding BAF/PBAF complexes have been implicated in Coffin–Siris 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 SMARCA4 variants have been previously reported and appear to display a variable phenotype. We describe here a cohort of 15 unrelated individuals with SMARCA4 variants from the Coffin–Siris 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‐system involvement.

中文翻译：

---

SMARCA4相关的棺材-Siris综合征的变异性：废话的候选变体会增加较温和的表型吗？

SMARCA4在人类的BRG1-BRM相关因子（BAF）或多溴相关BAF（PBAF）复合物中编码一个中心ATPase亚基，部分负责染色质重塑和转录调控。该基因和其他编码BAF / PBAF复合物的基因的变异已牵涉到科芬-西里斯综合症（Coffin-Siris Syndrome）中，这是一种多发性先天性综合症，其典型特征是学习和发育差异，面部特征粗大，多毛症和手的五位数/指甲发育不足和脚。先前已经报道了具有SMARCA4变体的个体，并且似乎显示出可变的表型。我们在这里描述了SMARCA4的15个无关个体的队列Coffin-Siris综合征/ BAF途径障碍注册表中的变体，进一步显示了学习障碍和健康问题的严重程度和程度的差异。在这个队列中，我们还报告了两个具有新的无意义变异的个体，这些个体似乎具有较温和的学习/行为差异且没有器官系统参与的表型。