COL2A1 and osteogenesis imperfecta: These include osteogenesis imperfecta caused by a recently reported variant in COL1A2 (OMIM 120160) [22], familial periodic fever associated with a known variant in TNFRSF1A (OMIM 191190), and a combination of orofacial cleft with growth and mental retardation contributed by variants in TP63 (OMIM 603273), COL2A1 (OMIM 120140), and ZNF423 (OMIM 604557) [23].