Sun W, Xiao X, Li S, et al. - Since the pathogenic variants in TSPAN12 could lead to familial exudative vitreoretinopathy (FEVR), which has high clinical variability, researchers sought to evaluate the pathogenicity of TSPAN12 variants and their phenotypic spectrum based on exome sequencing from 7092 probands with different eye conditions. The variants in TSPAN12 were chosen from exome sequencing data of samples from 7092 probands with different forms of eye conditions. In total, 45 variants in TSPAN12 with coding effects were identified based on the exome data from 7092 probands, among which 31 were classified as pathogenic variants including 15 novels. TSPAN12 pathogenic variants include truncating variants and missense variants that are predicted to be deleterious. Nearly 61.8% of patients with pathogenic variants in this gene had an initial diagnosis of FEVR, while the remaining 38.2% of patients had various initial diagnoses. Such findings expand the knowledge about variant evaluation of TSPAN12 and phenotypic spectrum of TSPAN12-associated FEVR.