Mucopolysaccharidosis Type VI

A "variant" is another word for a change in a gene. Sometimes these changes are not associated with causing a genetic disease or condition, and other times they are. Variants can be benign (not disease causing), pathogenic (disease causing), or of unknown significance (possibly disease causing). Looking at a person's genetic testing report can be helpful to know what type of variant or genetic change someone has inherited for mucopolysaccharidosis type VI. If a person is affected by mucopolysaccharidosis type VI, they should have two different disease causing variants in their ARSB genes.