Through the HGMD database and primary literature, we identified 48 pathogenic BP variants (42 single-nucleotide variants [SNVs] and 6 microdeletions) reported in 43 human genes underlying 33 different disorders that had been experimentally confirmed (Table 2 and SI Appendix, Table S8), from the first report of a BP variant in the L1CAM gene causing X-linked hydrocephalus in 1992 (29) to a recent study of BP variants in hereditary cancer genes in 2021 (39). This evidence concerns the gene L1CAM and cancer.