ClinVar Miner

Variants studied for Au-Kline syndrome

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 not provided total
22 22 16 0 0 3 57

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
HNRNPK 22 21 15 3 55
ATP7A 0 0 1 0 1
LOC107303340, VHL 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 9 0 0 0 9
Clinical Genetics Research Group, University of Calgary 8 0 0 0 8
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 1 1 0 5
Baylor Genetics 1 2 0 0 3
Mendelics 1 2 0 0 3
GeneReviews 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 3
New York Genome Center 0 1 2 0 3
3billion 0 1 2 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 2
Revvity Omics, Revvity 0 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 1
Department of Clinical Genetics, Oxford University Hospitals NHS Trust 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1

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