ClinVar Miner

Variants in gene ATP7A

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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
149 110 846 910 162 3 1927

Condition and significance breakdown #

Total conditions: 21
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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 48 72 392 821 134 1 1457
Menkes kinky-hair syndrome 82 23 296 34 7 2 403
not provided 19 7 152 79 41 0 280
Inborn genetic diseases 4 0 80 27 28 0 139
not specified 0 1 25 22 19 0 65
ATP7A-related condition 0 2 9 23 6 0 40
Cutis laxa, X-linked 9 3 23 0 2 0 33
Ehlers-Danlos syndrome 0 0 11 11 4 0 26
X-linked distal spinal muscular atrophy type 3 6 4 10 1 2 0 23
See cases 2 0 1 0 1 0 4
Intellectual disability 0 0 0 3 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 0 2
History of neurodevelopmental disorder 0 0 0 2 0 0 2
ATP7A-realted disorder 0 0 1 0 0 0 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
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

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 47 12 385 819 134 0 1397
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 223 0 0 0 223
GeneDx 6 4 97 67 47 0 221
Ambry Genetics 4 0 80 29 28 0 141
Natera, Inc. 4 0 68 35 10 0 117
Genetic Services Laboratory, University of Chicago 71 14 8 3 9 0 105
Myriad Genetics, Inc. 0 61 0 0 0 0 61
PreventionGenetics, part of Exact Sciences 0 2 9 26 9 0 46
CeGaT Center for Human Genetics Tuebingen 1 0 23 22 0 0 46
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
OMIM 16 0 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 3 3 6 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 7 2 0 0 15
Mendelics 5 4 2 2 2 0 15
Revvity Omics, Revvity 1 0 13 0 0 0 14
Baylor Genetics 3 0 10 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 0 0 12 0 0 0 12
Clinical Genetics, Academic Medical Center 0 0 0 2 8 0 10
Fulgent Genetics, Fulgent Genetics 0 0 4 4 2 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 5 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 4 1 0 0 8
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 2 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 3 0 4
Genome-Nilou Lab 0 0 2 0 2 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Athena Diagnostics Inc 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 1 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
3billion 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 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
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 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
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 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
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 0 1 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 1

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