Figure 1. Schematic diagrams representing different types of genomic variation.

By column from left to right are diagrams depicting a gene schematic with a variant, the type of variant, and a specific example of that type of variant. Those columns are followed by example genes that have been demonstrated to harbor that kind of variant, a representative disease caused by that type of variant, and the OMIM reference for that disease. The last column additionally includes references to cases in this Review, if applicable.