This sequence change occurs on Chromosome 11, altering ARL2, ARL2-SNX15, LOC130005983 (ARF like GTPase 2| ARL2-SNX15 readthrough (NMD candidate)| ATAC-STARR-seq lymphoblastoid silent region 3504). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1