InSiGHT DNA Variant Database

Disclaimer

All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share their submitted data with external parties for research purposes or for sharing with other databases. Use of the data is for clinical diagnostic purposes. Use for research requires permission from the curator in conjunction with submitters' approval. InSiGHT expects that use of the data for commercial operations should be accompanied by payment commensurate to this use.

All variants displayed here are automatically sourced from the global LOVD3 shared database. Clicking on a variant will take you there for more information.

Under development - view variants in specific regions or countries by entering a search term in the Country column

View variants in Latin America

Submit variants at the Global Shared Database or contact the InSiGHT database curator

A suggested data submission template is available here

Contact the InSiGHT database curator.