Further data accumulation in the phenotypic variability of type II collagenopathies caused by already known and newly identified variants in the COL2A1 gene will contribute to a more detailed description of genotype–phenotype correlations, which will allow us to predict the severity of the disease in patients with various pathogenic variants and to determine the tactics of patient management. This evidence concerns the gene COL2A1 and type 2 collagenopathy.