This website is run on behalf of the HHT Foundation International. To visit their website click here.

HHT is caused by pathogenic variants in either the endoglin gene (ENG) or the activin receptor-like gene (ACVRL1). The aim of this database is to record all sequence variants identified within these genes.

The reference sequences used for this database have accession numbers BC_014271.2 (ENG) and NM_000020.1 (ACVRL1). To view a table of the mutations/polymorphisms identified to date, click on the appropriate link below.

To submit a variant, please contact us and we will provide you with a username and password. It is important to note that all sequence variants are to be submitted using the current nomenclature described by the Human Genome Variation Society. Also, variants SHOULD ONLY BE SUBMITTED FOR THE INDEX CASE of any particular HHT family. For help on submitting, please see our help page or contact us.

Gene Name : ACVRL1

Mutation
Polymorphism
Unknown significance
All ACVRL1 Significance

Gene Name : ENG

Mutation
Polymorphism
Unknown significance
All ENG Significance