ClinVar Miner

Variants studied for Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
36 0 0 0 0 36

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic total
ACVRL1 30 30
ENG 3 3
ENG, LOC102723566 3 3

Submitter and significance breakdown #

Total submitters: 3
Download table as spreadsheet
Submitter pathogenic total
Medical & Molecular Genetics Group,University of Lincoln 30 30
OMIM 8 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.