ClinVar Miner

Variants in gene ATP7B

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
620 722 1565 1319 114 48 3619

Condition and significance breakdown #

Total conditions: 32
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wilson disease 607 684 1391 1247 64 16 3342
not provided 133 114 265 136 51 3 628
not specified 1 0 171 77 61 0 291
Inborn genetic diseases 32 5 104 93 13 0 247
ATP7B-related disorder 21 12 18 29 4 0 84
Acute myeloid leukemia 0 0 0 0 0 5 5
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Familial cancer of breast 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Epileptic encephalopathy 0 1 1 0 0 0 2
Melanoma 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 2
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 1
Anhaptoglobinemia 0 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Developmental and epileptic encephalopathy 93 1 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Hand tremor; Kayser-Fleischer ring 0 1 0 0 0 0 1
Hearing loss, autosomal recessive 109 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Intellectual disability, Wolff type 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Neoplasm 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Spastic ataxia 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 133
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 476 124 470 1099 50 0 2219
All of Us Research Program, National Institutes of Health 114 59 607 297 14 0 1091
Color Diagnostics, LLC DBA Color Health 95 31 406 283 18 0 833
Natera, Inc. 160 142 227 39 23 0 591
Fulgent Genetics, Fulgent Genetics 78 138 208 28 2 0 454
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 145 58 171 51 24 0 449
Genome-Nilou Lab 156 64 83 51 19 0 373
GeneDx 58 35 134 90 55 0 372
Baylor Genetics 181 126 10 0 0 0 317
Mayo Clinic Laboratories, Mayo Clinic 75 51 101 26 18 0 271
Counsyl 36 136 86 4 0 0 262
Ambry Genetics 32 5 104 93 13 0 247
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 55 28 65 36 31 0 215
CeGaT Center for Human Genetics Tuebingen 63 25 42 53 2 0 185
Illumina Laboratory Services, Illumina 8 4 101 8 17 0 138
PreventionGenetics, part of Exact Sciences 21 12 18 43 25 0 119
Revvity Omics, Revvity 42 27 36 1 0 0 106
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 41 3 2 0 0 88
Genetic Services Laboratory, University of Chicago 24 8 6 5 36 0 79
Myriad Genetics, Inc. 11 56 6 0 0 0 73
Lildballe Lab, Aarhus University Hospital 25 22 9 7 0 0 63
Eurofins Ntd Llc (ga) 17 3 20 3 17 0 60
Neuberg Centre For Genomic Medicine, NCGM 19 19 19 0 0 0 57
Breakthrough Genomics, Breakthrough Genomics 0 0 5 18 24 0 47
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 17 15 0 35
3billion 23 5 6 0 0 0 34
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 12 12 7 1 2 0 34
Juno Genomics, Hangzhou Juno Genomics, Inc 20 8 6 0 0 0 34
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon 14 17 0 0 0 0 31
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 29 29
Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences 0 11 15 0 0 0 26
Mendelics 9 4 7 2 4 0 26
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 2 14 5 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 2 2 9 8 0 23
Clinical Genetics, Academic Medical Center 0 0 0 0 22 0 22
OMIM 22 0 0 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 7 8 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 5 0 0 0 16
Dasa 15 0 0 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 3 5 0 0 0 12
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 7 5 0 0 0 0 12
First Genomix Gene Laboratory, Genetic Diagnostics Department 5 6 0 0 0 0 11
Institute of Human Genetics, University of Leipzig Medical Center 8 1 1 1 0 0 11
AiLife Diagnostics, AiLife Diagnostics 3 7 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 10 0 0 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 0 8 0 10
Variantyx, Inc. 5 5 0 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Department of Human Genetics, Hannover Medical School 4 4 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 3 1 1 0 8
Arcensus 5 2 0 0 0 0 7
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 7 7
Johns Hopkins Genomics, Johns Hopkins University 3 1 3 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 5 0 1 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 1 2 2 0 0 6
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 4 2 0 0 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 4 2 0 0 0 0 6
Institute of Genomics, University of Tartu 3 3 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 3 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 5 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 5
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 3 0 0 0 0 4
CSER _CC_NCGL, University of Washington 1 0 3 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 1 0 0 0 4
Hadassah Hebrew University Medical Center 2 2 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 2 0 0 0 0 4
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague 2 2 0 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 3 1 0 0 0 0 4
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 1 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 0 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 1 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Institute for Genomic Medicine, Nationwide Children's Hospital 1 2 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 2 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 0 2 0 0 0 3
MVZ Dr. Eberhard & Partner Dortmund 0 2 1 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 1 0 3
OLLIN Analises Genomicas, OLLIN 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Department of Biochemistry, All India Institute of Medical Sciences, Kalyani 2 0 0 0 0 0 2
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
MGZ Medical Genetics Center 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 1 0 0 0 2
Otogenetics 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center 0 1 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Human Genetics, National Children's Hospital, Hanoi, Vietnam 1 0 0 0 0 0 1
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry 0 0 0 0 0 1 1
Department of Molecular Genetics, Istishari Arab Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
deCODE genetics, Amgen 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.