ClinVar Miner

Variants in gene HNRNPK

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
41 41 83 86 48 3 289

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 16 7 59 84 48 0 211
Au-Kline syndrome 27 28 17 0 0 3 68
Inborn genetic diseases 2 5 11 2 0 0 20
HNRNPK-related disorder 1 2 2 3 0 0 8
Generalized hypotonia 0 1 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 1
Neonatal encephalopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 26 79 28 0 136
GeneDx 11 2 31 1 21 0 66
Ambry Genetics 2 5 11 2 0 0 20
CeGaT Center for Human Genetics Tuebingen 1 3 5 7 0 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 11 0 11
OMIM 9 0 0 0 0 0 9
PreventionGenetics, part of Exact Sciences 1 2 2 3 0 0 8
Clinical Genetics Research Group, University of Calgary 8 0 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 3 1 0 0 0 6
3billion 1 3 2 0 0 0 6
Baylor Genetics 2 2 0 0 0 0 4
Mendelics 1 2 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 1
Department of Clinical Genetics, Oxford University Hospitals NHS Trust 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 1 0 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics 1 0 0 0 0 0 1
Medical Laboratory, The Third Affiliated Hospital of Shenzhen University 1 0 0 0 0 0 1

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