In this study, we surveyed germline CH variants in a total of 1,629 affected samples across 7 pediatric diseases: adolescent idiopathic scoliosis, congenital heart defects, disorders of sex development, ewing sarcoma, neuroblastoma, orofacial cleft, and syndromic cranial dysinnervation. The gene discussed is C4B; the disease is adolescent idiopathic scoliosis.