COL1A1 and osteogenesis imperfecta: The COL1A1 nonsense variant c.658C>T (p.Arg220ter) in exon 9 of 51 found in patients 22/21 and 23/21 was classified as pathogenic in Clinvar (VCV000425637.13) and described to be associated with OI in several studies (24, 32–35).