As of March 29, 2019, HGMD contains over 256,070 germline mutations--a major achievement in our understanding of rare and hereditary disease. For years, HGMD has been recognized as the defacto standard repository for heritable mutations. Curated by experts in the field of genetics, HGMD offers information you can trust, with an unrivaled breadth of coverage. The proof is in the numbers:
256,070 expert-curated, disease-causing germline variants
10,500+ summary reports listing all known inherited disease mutations
2,600+ peer-review journals mined by experts in the field of genetics
104,000+ peer-reviewed literature reports cited
14,500+ scientific publications cite HGMD
17,000+ new mutation entries per year
View the complete HGMD statistics
Mutations may now be viewed according to whether they have additional literature evidence (browse mutations - additional literature evidence). Categories include additional functional evidence, additional phenotypes and additional case reports.
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New ANNOVAR databases are now available.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Watch a recorded webinar featuring ANNOVAR here.
Updated tracks have been released with HGMD 2019.1 content for all HGMD-related tracks. Additional major updates include TRANSFAC® release 2019.1, and PROETOME™ release 2019.1.
QCI Interpret for Rare and Hereditary Disease is clinical decision support software that provides current scientific and clinical evidence to classify variants according to ACMG and ACOG interpretation guidelines.
QCI Interpret connects you to HGMD, plus 25 additional public and propriety sources. The software provides you with an expansive variant bibliography with full transparency to the underlying evidence, enabling you report confidently and scale efficiently. Learn more
HGMD®, the Human Gene Mutation Database is used by scientists around the world to find information on reported genetic mutations. The papers below use the database to advance our understanding of disease, DNA dynamics, and more.
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes
First author: Albino Bacolla
Scientists in the US and UK published results in Nucleic Acids Research of a detailed analysis of single-base substitutions and indels in the human genome. Their findings show that certain base positions are more susceptible to mutagenesis than others. They used HGMD Professional to find mutations in specific genomic regions for analysis; the paper includes charts showing mutation patterns, germline SNPs, and more from HGMD data.
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
First author: Kunio Mizutari
This Orphanet Journal of Rare Diseases paper from scientists in Japan sequenced 72 patients with unexplained hearing loss, finding several CDH23 mutations, some of which were novel. Mutations in the gene have been linked to Usher syndrome and other forms of hereditary hearing loss. The scientists used HGMD to find all known CDH23 mutations within nearly 70 coding regions.
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation
First author: Q.L. Bai
In Genetics and Molecular Research, scientists report the utility of mutation analysis of the interleukin-2 receptor gamma gene to assess carrier status and perform prenatal diagnosis for X-linked severe combined immunodeficiency. They studied two high-risk families, along with 100 controls, to evaluate the approach. Sequence variation was determined using HGMD Professional and an X-SCID database, and a new mutation was discovered in the project.
Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson’s disease
First author: Tomoko Oeda
Researchers from three hospitals in Japan published this Neurobiology of Aging report that may help stratify Parkinson’s disease patients by prognosis. They sequenced mutations in the GBA gene in 215 patients, finding that those who had mutations associated with Gaucher disease suffered dementia and psychosis much earlier than those who didn’t. The team found previously reported GBA mutations using HGMD Professional.
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort
First author: Elisabet Selga
In this PLoS One publication, scientists from a number of institutions in Spain examined genetic variation among patients with Brugada syndrome, a rare genetic cardiac arrhythmia. They sequenced 14 genes in 55 patients, identifying 61 variants and finding the subset that appear pathogenic. Variants were filtered against a number of databases, including HGMD.
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