The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution of genomic variation information and associated clinical variations. Endeavor to foster the development of the necessary methodology and informatics.

The Society is an Affiliate of the International Federation of Human Genetics Societies (IFHGS) and also the Human Genome Organisation (HUGO).

Human Mutation is the Society journal. Members will receive a reduced subscription to the journal if they choose to subscribe.

The Society runs two scientific meetings per year as satellites of the American or European Societies of Human Genetics annual meetings. The next meeting will be held 23rd May 2009 in Vienna, Austria as a satellite to ESHG (see link left). The following meeting will be held on 20th October 2009 in Honolulu, USA as a satellite to ASHG.

Members of the Society have published a number of papers in relation to human genome variation and in particularly mutation databases.The Society maintains a substantial collection of links to mutation databases and has made recommendations for nomenclature of variations, and content of mutation databases.

To join the Society and more information such as Board of Directors, Bylaws, Membership etc. click here.