ClinVar Miner

Variants studied for fatty liver disease

Included ClinVar conditions (6):
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 likely risk allele risk factor total
4 1 53 17 14 1 1 89

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
PNPLA3 0 0 50 17 14 1 1 81
ATG7 2 0 0 0 0 0 0 2
PRMT7 2 0 0 0 0 0 0 2
LOC121627950, PNPLA3 0 0 1 0 0 0 0 1
LOC126805688, YARS1 0 1 0 0 0 0 0 1
MT-TL1 0 0 1 0 0 0 0 1
OPA1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor total
Illumina Laboratory Services, Illumina 0 0 51 17 14 0 0 82
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 0 3
Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 0 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 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.