DDX3X and hereditary disease: Continuing with the example of DDX3X (Figure 2B), clicking on the Arginine (Arg/R) at position 326 (R326) will show that two different R326 mutations have been recorded as pathogenic in ClinVar: p.Arg326His (R > H) is associated with mental retardation and intellectual disability and p.Arg326Cys (R > C) is associated with inborn genetic diseases.