The UMD- VHL mutations database
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Last update 19/07/23

This database includes 115 references and 1641 mutations ( 605 different mutations and 162 proteic variants)

The UMD-VHL database have been set up in a joined national effort through the network of 6 diagnostic laboratories to provide up-to-date informations about mutations of the VHL gene identified in patients with von Hippel Lindau syndrom. The main roles of GTE (Groupe Tumeurs Endocrines) and TENGEN (Oncogenetic Network of NeuroEndocrine Tumors) are to establish specific care, to liven up multidisciplinary meetings, and to develop clinical research. This database of VHL mutations was developed using the Universal mutation Database tool. Data from molecular genetics laboratories are sent to Marseille for inclusion and curation into the database. The interpretation of sequence variants was based on consensus recommendations of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. This work is supported by grant from INstitut National du CAncer (INCA) For further details about TENGEN, refer to website Contact: Anne Barlier and Amira Mohamed Copyright: The UMD-VHL Locus Specific Databases constitute the intellectual property of the inventors of the database. Any unauthorized copying, storage or distribution of this material without written permission from the inventors would lead to copyright infringement with possible ensuing litigation. For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases.