ClinVar Miner

Variants studied for Houge-Janssens syndrome 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
11 18 23 3 0 3 46

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
PPP2R1A 10 17 23 3 3 44
SHOC2 1 0 0 0 0 1
TAPBPL, VAMP1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
3billion 3 1 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 3 2 0 0 6
Baylor Genetics 0 1 4 0 0 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 1 1 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 4
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 3 3
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 2
Mendelics 0 0 0 2 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genome-Nilou Lab 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.