The current total number of C2orf71 mutations reported in the Human Gene Mutation Database (HGMD) is 56 (33 missense and nonsense, 15 small deletions, 7 small insertions, and 1 small insertion/deletion; accession date: 5 May 2023) associated with non-syndromic retinal ciliopathies. This evidence concerns the gene PCARE and retinal ciliopathy.