ClinVar Miner

Variants in gene HUWE1

See also:
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
22 81 989 653 329 534 2393

Condition and significance breakdown #

Total conditions: 51
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 32 663 551 326 0 1502
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 307 307
Inborn genetic diseases 2 1 168 83 35 0 289
Intellectual disability, X-linked syndromic, Turner type 18 43 158 11 4 3 228
Nonpapillary renal cell carcinoma 0 0 0 0 0 157 157
not specified 0 0 49 43 9 0 100
HUWE1-related disorder 1 5 31 36 14 2 89
Ovarian serous cystadenocarcinoma 0 0 0 0 0 39 39
Intellectual disability 1 3 10 3 0 0 17
Cervical cancer 0 0 0 0 0 11 11
Acute myeloid leukemia 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Melanoma 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 5 5
Papillary renal cell carcinoma type 1 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Ovarian cancer 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Global developmental delay 1 0 1 0 0 0 2
Neurodevelopmental abnormality 0 0 0 2 0 0 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Trigonocephaly-short stature-developmental delay syndrome 0 1 1 0 0 0 2
Abnormal corpus callosum morphology 0 1 0 0 0 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Blepharophimosis; Atrial septal defect; Visual impairment; Hypothyroidism; Abnormal facial shape; Excessive wrinkled skin; Severe global developmental delay; Ventricular septal defect 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Genetic developmental and epileptic encephalopathy 0 0 0 1 0 0 1
HUWE1-related neurodevelopmental disorder 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Incidental Discovery 0 0 1 0 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 0 0 1
Intellectual disability, X-linked syndromic, Turner type; Trigonocephaly-short stature-developmental delay syndrome 0 0 0 1 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Neurodevelopmental delay 1 0 0 0 0 0 1
Non-syndromic X-linked intellectual disability 0 0 1 0 0 0 1
Non-syndromic intellectual disability 0 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
X-linked intellectual disability 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 106
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 4 204 379 249 0 839
GeneDx 10 22 415 124 132 0 703
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 529 529
Ambry Genetics 2 1 168 83 35 0 289
CeGaT Center for Human Genetics Tuebingen 1 5 53 66 0 0 125
PreventionGenetics, part of Exact Sciences 1 5 31 36 14 0 87
Genetic Services Laboratory, University of Chicago 0 0 23 24 6 0 53
Breakthrough Genomics, Breakthrough Genomics 0 0 0 19 31 0 50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 22 10 0 0 34
Revvity Omics, Revvity 0 1 28 0 0 0 29
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 6 18 0 0 0 25
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 19 0 0 0 20
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 3 14 0 0 1 0 18
3billion 2 3 11 1 0 0 17
Department of Neurology, Johns Hopkins University School of Medicine 1 2 11 1 0 0 15
Eurofins Ntd Llc (ga) 0 0 13 0 1 0 14
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 14 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 1 1 8 1 0 0 11
OMIM 11 0 0 0 0 0 11
Diagnostic Laboratory, Strasbourg University Hospital 0 2 7 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 0 2 6 0 0 9
New York Genome Center 0 1 7 1 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 0 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 8 0 0 8
Baylor Genetics 0 1 6 0 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 0 3 2 0 6
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 6 0 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 2 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 1 3 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Illumina Laboratory Services, Illumina 0 0 5 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 4 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 4
Mendelics 1 0 2 1 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 2 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 2 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
Gansu Provincial Maternity and Child Care Hospital 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 2 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 2 0 0 0 3
MGZ Medical Genetics Center 0 0 3 0 0 0 3
Molecular Genetics Lab, CHRU Brest 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 1 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 1 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Bioinformatics 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.