COL1A2 and osteogenesis imperfecta: Specifically, in COL1A2, associated with osteogenesis imperfecta (MIM #166210), cardiac valvular EDS (MIM #225320) arthrochalasia EDS (MIM #617821), and the recently defined COL1‐related overlap disorder (Brady et al., 2017; Marini et al., 2007; Morlino et al., 2020), the c.1295G>A, p.(Arg432Gln) missense variant (rs139446305, GnomAD 18/264778 individuals, no homozygotes, total MAF: C =0.00006798) was identified.