The Human Gene Mutation Database (HGMD) constitutes a comprehensive core 
collection of data on germ-line mutations in nuclear genes underlying or 
associated with human inherited disease (http://www.hgmd.org). Data cataloged 
include single-base-pair substitutions in coding, regulatory, and 
splicing-relevant regions, micro-deletions and micro-insertions, indels, and 
triplet repeat expansions, as well as gross gene deletions, insertions, 
duplications, and complex rearrangements. Each mutation is entered into HGMD 
only once, in order to avoid confusion between recurrent and 
identical-by-descent lesions. By March 2012, the database contained in excess of 
123,600 different lesions (HGMD Professional release 2012.1) detected in 4,514 
different nuclear genes, with new entries currently accumulating at a rate in 
excess of 10,000 per annum. ∼6,000 of these entries constitute 
disease-associated and functional polymorphisms. HGMD also includes cDNA 
reference sequences for more than 98% of the listed genes.