The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes associated with human inherited diseases. By December 2008, the database contained over 85,000 different lesions in 3,253 genes, with new entries accumulating at a rate of over 9,000 per year. HGMD has evolved from a tool for studying mutational mechanisms to a resource with broader utility for researchers, physicians, clinicians, genetic counselors, and companies in biopharmaceuticals, bioinformatics, and personalized genomics. The database was first made publicly available in April 1996 and has since been collaboratively marketed with BIOBASE GmbH, covering the exclusive worldwide marketing of HGMD Professional, a subscription-based version. HGMD records disease-causing mutations and polymorphic DNA sequence variants, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). The database provides detailed information on mutations, including curated comments, comparative biochemical data, and evolutionary conservation. HGMD also offers advanced search tools and a user registration scheme, with over 23,000 user registrations from more than 150 countries. Future developments include expanding the functional/disease-associated polymorphism dataset, providing additional orthologous protein sequences, and enhancing genomic annotations.The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes associated with human inherited diseases. By December 2008, the database contained over 85,000 different lesions in 3,253 genes, with new entries accumulating at a rate of over 9,000 per year. HGMD has evolved from a tool for studying mutational mechanisms to a resource with broader utility for researchers, physicians, clinicians, genetic counselors, and companies in biopharmaceuticals, bioinformatics, and personalized genomics. The database was first made publicly available in April 1996 and has since been collaboratively marketed with BIOBASE GmbH, covering the exclusive worldwide marketing of HGMD Professional, a subscription-based version. HGMD records disease-causing mutations and polymorphic DNA sequence variants, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). The database provides detailed information on mutations, including curated comments, comparative biochemical data, and evolutionary conservation. HGMD also offers advanced search tools and a user registration scheme, with over 23,000 user registrations from more than 150 countries. Future developments include expanding the functional/disease-associated polymorphism dataset, providing additional orthologous protein sequences, and enhancing genomic annotations.