ClinVar Miner

Variants studied for Au-Kline syndrome

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
28 36 27 0 0 3 87

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 28 35 26 3 85
ATP7A 0 0 1 0 1
LOC107303340, VHL 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance not provided total
3billion 2 7 5 0 14
OMIM 9 0 0 0 9
Clinical Genetics Research Group, University of Calgary 8 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 4 1 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 1 1 0 5
Baylor Genetics 2 2 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 3
GeneReviews 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 3
Mendelics 1 2 0 0 3
New York Genome Center 0 1 2 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 1
Department of Clinical Genetics, Oxford University Hospitals NHS Trust 1 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Medical Laboratory, The Third Affiliated Hospital of Shenzhen University 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1

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