The Human Gene Mutation Database (HGMD) is a comprehensive collection of germline mutations in nuclear genes associated with human inherited diseases. As of December 2008, it contained over 85,000 different mutations in 3,253 genes, with new entries accumulating at a rate exceeding 9,000 per year. Originally established for studying mutational mechanisms, HGMD has become a central resource for researchers, clinicians, and genetic counselors, as well as for biopharmaceutical and bioinformatics companies. It was first made publicly available in April 1996 and has since partnered with BIOBASE GmbH for exclusive marketing of its subscription version, HGMD Professional. HGMD records the first report of disease-causing mutations or disease-associated polymorphisms and provides these data in an accessible format. It includes various types of mutations, such as single base-pair substitutions, micro-deletions, micro-insertions, indels, repeat expansions, and complex rearrangements. Mutation data are obtained through a combination of manual and computerized methods, ensuring that each mutation is entered only once under its earliest literature citation. HGMD does not include somatic lesions or mitochondrial genome mutations, which are covered by other databases like COSMIC and MITOMAP. HGMD provides annotated cDNA sequences for over 95% of its genes and has a steadily increasing number of new entries. It also includes disease-associated/functional polymorphisms, which are defined as variants with direct functional significance or clear functional significance even without a known clinical phenotype. These polymorphisms are generally located in gene promoters or coding regions and may influence gene expression or structure/function. HGMD Professional, available through BIOBASE, offers advanced features such as powerful search tools, detailed mutation information, and comparative biochemical data. It is essential for checking the novelty and pathogenicity of newly discovered mutations. HGMD also provides a user registration system, with over 23,000 registered users from 150 countries. HGMD data are used in various studies, including genome sequencing projects and research on inherited diseases. HGMD is funded through a sustainable model that includes income from public and private sources, allowing free access to academic users and a subscription-based model for commercial users. The database continues to evolve, incorporating new data and features to enhance its utility for the scientific community.The Human Gene Mutation Database (HGMD) is a comprehensive collection of germline mutations in nuclear genes associated with human inherited diseases. As of December 2008, it contained over 85,000 different mutations in 3,253 genes, with new entries accumulating at a rate exceeding 9,000 per year. Originally established for studying mutational mechanisms, HGMD has become a central resource for researchers, clinicians, and genetic counselors, as well as for biopharmaceutical and bioinformatics companies. It was first made publicly available in April 1996 and has since partnered with BIOBASE GmbH for exclusive marketing of its subscription version, HGMD Professional. HGMD records the first report of disease-causing mutations or disease-associated polymorphisms and provides these data in an accessible format. It includes various types of mutations, such as single base-pair substitutions, micro-deletions, micro-insertions, indels, repeat expansions, and complex rearrangements. Mutation data are obtained through a combination of manual and computerized methods, ensuring that each mutation is entered only once under its earliest literature citation. HGMD does not include somatic lesions or mitochondrial genome mutations, which are covered by other databases like COSMIC and MITOMAP. HGMD provides annotated cDNA sequences for over 95% of its genes and has a steadily increasing number of new entries. It also includes disease-associated/functional polymorphisms, which are defined as variants with direct functional significance or clear functional significance even without a known clinical phenotype. These polymorphisms are generally located in gene promoters or coding regions and may influence gene expression or structure/function. HGMD Professional, available through BIOBASE, offers advanced features such as powerful search tools, detailed mutation information, and comparative biochemical data. It is essential for checking the novelty and pathogenicity of newly discovered mutations. HGMD also provides a user registration system, with over 23,000 registered users from 150 countries. HGMD data are used in various studies, including genome sequencing projects and research on inherited diseases. HGMD is funded through a sustainable model that includes income from public and private sources, allowing free access to academic users and a subscription-based model for commercial users. The database continues to evolve, incorporating new data and features to enhance its utility for the scientific community.