ClinVar Miner

Variants in gene ATP7A

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Minimum submission review status: Collection method:
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Gene type:
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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 total
115 28 231 197 69 578

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 22 4 131 141 52 350
Menkes kinky-hair syndrome 78 19 19 7 5 127
not provided 12 3 61 34 7 115
not specified 0 1 23 33 19 73
History of neurodevelopmental disorder 1 0 6 9 14 30
Cutis laxa, X-linked 8 1 5 0 0 14
none provided 0 1 0 1 4 6
Distal spinal muscular atrophy, X-linked 3 2 1 2 0 0 5
Intellectual disability 0 0 0 3 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 2
Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Menkes disease, copper-replacement responsive 1 0 0 0 0 1
Menkes disease, mild 1 0 0 0 0 1
Menkes kinky-hair syndrome; Cutis laxa, X-linked 0 1 0 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 20 4 130 151 54 359
Genetic Services Laboratory, University of Chicago 71 14 8 3 9 105
GeneDx 2 2 45 38 12 99
Natera, Inc. 3 0 16 9 9 37
Ambry Genetics 1 0 7 9 14 31
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 1 11 0 9 27
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 16 2 0 19
OMIM 16 0 0 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 2 3 6 15
Baylor Genetics 2 0 7 0 0 9
Mendelics 1 2 2 1 2 8
PreventionGenetics, PreventionGenetics 0 0 0 3 3 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 4 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 2 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
ISCA site 4 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 1
Clinical Genetics,CHU Rennes 1 0 0 0 0 1

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