Many mutations responsible for Lesch-Nyhan disease have been identified. A summary of these mutations appears in the table below. All individual mutations in each category are summarized in separate tables. For the lists of individual mutations, please choose from the following categories:

• Missense point mutations

• Nonsense point mutations

• Splice error point mutations

• Deletions (leading to altered coding sequences or splice error)

• Insertions (leading to altered coding sequences or splice error)

• Other mutations (female patients, duplications, substitutions, double point mutations)

If you would like to add a new mutation which does not appear in these lists, please contact the authors.