ClinVar Miner

Variants in gene HNRNPU

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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
94 42 323 437 73 7 924

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 54 62 30 251 380 52 3 762
not provided 23 9 46 51 33 0 156
Inborn genetic diseases 5 1 30 44 4 0 84
heterogeneous nuclear ribonucleoprotein G, human 3 0 8 3 1 0 15
HNRNPU-related condition 0 0 3 8 0 0 11
not specified 0 0 4 3 1 0 8
Epileptic encephalopathy 4 0 0 0 0 0 4
Intellectual disability 2 1 1 0 0 0 4
HNRNPU-Related Disorder 0 0 0 0 0 3 3
Seizure; Intellectual disability 1 0 2 0 0 0 3
See cases 0 1 1 0 0 0 2
Seizure 1 0 1 0 0 0 2
Autism spectrum disorder 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 1 0 0 0 0 0 1 1
HNRNPU-related developmental and epileptic encephalopathy 0 0 1 0 0 0 1
Intellectual disability and seizures 1 0 0 0 0 0 1
Myoclonic absence seizure 0 0 0 0 1 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 8 233 382 53 0 716
GeneDx 17 2 26 32 32 0 109
Ambry Genetics 5 1 30 44 4 0 84
CeGaT Center for Human Genetics Tuebingen 3 3 18 19 1 0 44
Baylor Genetics 4 1 6 0 0 0 11
PreventionGenetics, part of Exact Sciences 0 0 3 8 0 0 11
Mendelics 7 1 2 0 0 0 10
Revvity Omics, Revvity 0 1 7 0 0 0 8
Laboratory of Medical Genetics, University of Torino 0 7 1 0 0 0 8
Athena Diagnostics Inc 0 0 1 1 5 0 7
Fulgent Genetics, Fulgent Genetics 0 0 4 2 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 1 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 1 0 0 0 4
OMIM 3 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
3billion 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Illumina Laboratory Services, Illumina 1 0 1 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 1 0 0 2
Department of Pediatric Neurology and Endocrinology, Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 0 1
Breda Genetics srl 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1

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