ClinVar Miner

Variants in gene HNRNPU

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Minimum submission review status: Collection method:
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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
50 19 125 104 22 1 308

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
heterogeneous nuclear ribonucleoprotein G, human 17 5 94 79 15 0 210
not provided 17 8 8 30 11 0 74
Epileptic encephalopathy, early infantile, 54 13 5 20 6 1 1 46
History of neurodevelopmental disorder 1 0 2 9 1 0 13
Inborn genetic diseases 3 1 4 0 0 0 8
Epileptic encephalopathy 4 0 0 0 0 0 4
Intellectual disability 1 1 1 0 0 0 3
Seizures; Intellectual disability 1 0 2 0 0 0 3
not specified 0 0 2 1 0 0 3
Intellectual disability and seizures 1 0 0 0 0 0 1
Myoclonic absences 0 0 0 0 1 0 1
Seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 5 94 94 20 0 230
GeneDx 13 3 3 1 0 0 20
Ambry Genetics 3 1 6 9 1 0 20
Baylor Genetics 4 0 6 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 3 2 0 0 9
Athena Diagnostics Inc 0 0 2 0 5 0 7
OMIM 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 0 0 1 0 3
Mendelics 1 1 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 0 0 0 2
Department of Pediatric Neurology and Endocrinology,Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 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
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 0 1 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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