The Human Gene Mutation Database (HGMD^®) constitutes a comprehensive collection of published germline mutations in nuclear genes that are thought to underlie, or are closely associated with human inherited disease. At the time of writing (June 2020), the database contains in excess of 289,000 different gene lesions identified in over 11,100 genes manually curated from 72,987 articles published in over 3100 peer-reviewed journals. There are primarily two main groups of users who utilise HGMD on a regular basis; research scientists and clinical diagnosticians. This review aims to highlight how to make the most out of HGMD data in each setting.

人类基因突变数据库（HGMD ^®）是核基因公布的种系突变被认为是背后，或与人类遗传性疾病有密切关联的全面收集。在撰写本文时（2020年6月），该数据库包含超过289,000种不同的基因损伤，这些基因损伤是从3100多种经同行评审的期刊上发表的72,987篇文章中手动策划的11,100多个基因中识别出来的。主要有两类定期使用HGMD的用户。研究科学家和临床诊断师。这篇综述旨在强调如何在每种设置中充分利用HGMD数据。