ClinVar Miner

Variants in gene ATP7A

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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
170 131 1102 1018 166 25 2279

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 57 16 538 911 136 1 1644
Menkes kinky-hair syndrome 93 100 369 38 7 2 558
not provided 26 7 244 117 44 0 411
Inborn genetic diseases 4 0 118 40 30 0 192
not specified 1 1 33 36 31 0 95
ATP7A-related disorder 1 4 12 24 7 0 48
Cutis laxa, X-linked 10 3 24 0 2 0 35
Ehlers-Danlos syndrome 0 0 11 11 4 0 26
X-linked distal spinal muscular atrophy type 3 7 5 11 1 2 0 26
Uterine corpus endometrial carcinoma 0 0 0 0 0 6 6
Intellectual disability 0 0 0 4 0 0 4
See cases 2 0 1 0 1 0 4
Melanoma 0 0 0 0 0 3 3
Charcot-Marie-Tooth disease 0 0 2 0 0 0 2
History of neurodevelopmental disorder 0 0 0 2 0 0 2
Lung cancer 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
ATP7A-realted disorder 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Au-Kline syndrome 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2 0 0 1 0 0 0 1
Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 1 0 0 0 0 0 1
Diaphragmatic hernia 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Menkes disease, copper-replacement responsive 1 0 0 0 0 0 1
Menkes disease, mild 1 0 0 0 0 0 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked 0 1 0 0 0 0 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Neuronopathy, distal hereditary motor, autosomal dominant 1 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 92
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 15 529 902 136 0 1637
GeneDx 10 4 168 67 47 0 296
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 223 0 0 0 223
Ambry Genetics 4 0 118 42 30 0 194
Natera, Inc. 5 4 130 37 10 0 186
Genetic Services Laboratory, University of Chicago 71 14 8 3 9 0 105
CeGaT Center for Human Genetics Tuebingen 3 0 30 46 0 0 79
Mayo Clinic Laboratories, Mayo Clinic 0 0 26 20 23 0 69
Myriad Genetics, Inc. 0 61 0 0 0 0 61
PreventionGenetics, part of Exact Sciences 0 4 12 27 10 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 16 17 1 0 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 8 5 12 0 29
Eurofins Ntd Llc (ga) 6 1 11 0 9 0 27
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 11 11 4 0 26
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 21 21
3billion 4 5 2 8 0 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 10 8 0 18
Revvity Omics, Revvity 2 0 16 0 0 0 18
Baylor Genetics 5 2 10 0 0 0 17
Mendelics 5 4 3 2 2 0 16
OMIM 16 0 0 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 1 6 3 2 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 4 2 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 5 0 10
Clinical Genetics, Academic Medical Center 0 0 0 2 8 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 4 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 6 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 3 0 4
Genome-Nilou Lab 0 0 2 0 2 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Athena Diagnostics 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 1 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1 0 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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