ClinVar Miner

Variants in gene MECP2

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
764 340 761 604 320 136 2136

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Rett syndrome 504 248 247 104 191 10 1063
Severe neonatal-onset encephalopathy with microcephaly 244 23 265 364 172 0 1062
not provided 182 49 236 165 53 95 688
not specified 6 0 72 81 167 0 283
MECP2-related disorder 23 7 44 168 10 1 253
Inborn genetic diseases 46 11 68 39 24 0 188
X-linked intellectual disability-psychosis-macroorchidism syndrome 31 6 24 4 0 0 61
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 17 4 9 12 1 0 43
Autism, susceptibility to, X-linked 3 9 5 27 1 0 0 42
Syndromic X-linked intellectual disability Lubs type 12 7 4 0 0 0 23
History of neurodevelopmental disorder 0 0 3 7 12 0 22
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 19 19
Intellectual disability 12 2 0 3 1 0 17
See cases 13 0 1 0 0 0 14
Neurodevelopmental delay 6 3 1 0 0 0 10
Angelman syndrome 7 0 2 0 0 0 9
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
X-linked MECP2-related disorders 4 1 0 0 0 0 5
Rett syndrome, zappella variant 4 0 0 0 0 0 4
Abnormality of the nervous system 3 0 0 0 0 0 3
Developmental disorder 0 1 2 0 0 0 3
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome 2 0 1 0 0 0 3
Seizure 3 0 0 0 0 0 3
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2 0 1 0 0 0 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2 0 1 0 0 0 3
Angelman syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2 0 0 0 0 0 2
Attention deficit hyperactivity disorder 1 0 0 1 0 0 2
Atypical Rett syndrome 2 0 0 0 0 0 2
Autism 1 1 0 0 0 0 2
Autism spectrum disorder 0 1 1 0 0 0 2
Epileptic encephalopathy 2 0 0 0 0 0 2
Neurodevelopmental disorder 2 0 0 0 0 0 2
Non-syndromic X-linked intellectual disability 2 0 0 0 0 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome; Autism, susceptibility to, X-linked 3 0 0 2 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Atypical behavior 0 1 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Cone-rod dystrophy 0 0 1 0 0 0 1
Delayed speech and language development; Delayed gross motor development; Loss of ambulation 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 0 0 1 0 0 0 1
Epilepsy; Intellectual disability 0 1 0 0 0 0 1
Facial hypertrichosis; Congenital laryngomalacia; Dystonic disorder; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormal muscle fiber morphology; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Focal epilepsy 0 1 0 0 0 0 1
Global developmental delay; Developmental regression 1 0 0 0 0 0 1
Global developmental delay; Generalized hypotonia; Metatarsus adductus 1 0 0 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Microcephaly; Intellectual disability; Psychomotor retardation; Severe underweight in infancy childhood and adolescence 0 1 0 0 0 0 1
Motor delay; Micrognathia; Hearing impairment; Downslanted palpebral fissures; Microcephaly; Stenosis of the external auditory canal; Intellectual disability; Postnatal growth retardation 0 1 0 0 0 0 1
Obesity 0 0 1 0 0 0 1
Paediatric disorders 0 1 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Seizure; Absent speech; Developmental regression; Severe global developmental delay; Irregular respiration 1 0 0 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1
Stereotypic movement disorder; Delayed speech and language development; Delayed gross motor development; Bruxism 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Lubs type; Rett syndrome 0 0 0 0 0 1 1
Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 168
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 238 19 257 365 172 0 1051
Centre for Population Genomics, CPG 271 180 135 55 155 0 796
RettBASE 368 1 170 1 150 92 749
GeneDx 110 14 138 126 60 0 448
PreventionGenetics, part of Exact Sciences 17 4 42 170 12 0 245
Ambry Genetics 46 11 71 46 36 0 210
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 35 7 23 51 64 0 180
CeGaT Center for Human Genetics Tuebingen 33 12 42 75 0 0 162
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 34 8 37 26 26 0 131
Genetic Services Laboratory, University of Chicago 52 2 21 13 32 0 120
Eurofins Ntd Llc (ga) 18 3 22 6 32 0 81
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 21 2 4 3 13 0 43
3billion 20 16 6 0 0 0 42
Revvity Omics, Revvity 20 4 16 0 1 0 41
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 16 7 10 2 2 0 37
OMIM 37 0 0 0 0 0 37
Mendelics 19 4 5 3 5 0 36
Institute of Human Genetics, University of Leipzig Medical Center 23 5 3 1 1 0 32
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 31 31
Quest Diagnostics Nichols Institute San Juan Capistrano 11 3 5 1 10 0 30
Breakthrough Genomics, Breakthrough Genomics 3 0 1 9 16 0 29
Mayo Clinic Laboratories, Mayo Clinic 12 2 6 0 9 0 29
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 8 0 1 14 5 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 20 2 3 1 1 0 27
Genome Diagnostics Laboratory, University Medical Center Utrecht 9 0 0 10 7 0 26
Athena Diagnostics 9 0 3 1 12 0 25
Fulgent Genetics, Fulgent Genetics 8 1 5 10 1 0 25
Neuberg Centre For Genomic Medicine, NCGM 14 2 9 0 0 0 25
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 22 2 0 0 0 0 24
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics 16 0 1 1 4 0 22
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 12 1 1 1 6 0 21
Baylor Genetics 11 2 5 0 0 0 18
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 11 5 1 1 0 0 18
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 8 0 7 0 3 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 6 0 2 7 1 0 16
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 0 1 1 2 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 0 3 0 0 0 13
Génétique des Maladies du Développement, Hospices Civils de Lyon 8 0 3 2 0 0 13
Institute of Human Genetics Munich, TUM University Hospital 9 4 0 0 0 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 1 2 0 0 12
Center for Human Genetics, Inc, Center for Human Genetics, Inc 7 2 1 2 0 0 12
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 4 0 1 4 3 0 12
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 6 3 3 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 8 4 0 0 0 0 12
Dasa 11 0 0 0 0 0 11
Illumina Laboratory Services, Illumina 8 2 1 0 0 0 11
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 5 4 0 11
Variantyx, Inc. 9 2 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 2 1 0 0 0 10
Clinical Genetics and Genomics, Karolinska University Hospital 7 2 0 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 5 2 0 2 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 0 2 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 2 1 0 0 0 8
GeneReviews 0 0 0 0 0 8 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 2 1 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 7 1 0 0 0 0 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 7 1 0 0 0 0 8
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 3 1 0 0 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 1 0 0 0 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 3 0 0 0 6
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 5 0 1 0 0 0 6
Institute of Human Genetics, Heidelberg University 5 1 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 1 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 0 1 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 5 1 0 0 0 0 6
MGZ Medical Genetics Center 5 0 1 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 6
Undiagnosed Diseases Network, NIH 6 0 0 0 0 0 6
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 2 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 2 0 1 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 2 0 0 0 5
Department of Human Genetics, Hannover Medical School 4 1 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 0 0 0 0 0 5
Laboratoire Génétique Moléculaire, CHRU TOURS 2 3 0 0 0 0 5
MVZ Martinsried, Medicover Genetics 3 0 2 0 0 0 5
New York Genome Center 1 0 3 1 0 0 5
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 3 2 0 0 0 0 5
Suma Genomics 4 1 0 0 0 0 5
Center of Human Genetics, Hôpital Erasme 4 0 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 4 0 0 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 2 1 0 1 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratoire de Génétique Moléculaire, CHU Bordeaux 3 1 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 1 1 0 0 0 4
Neurogenetics Laboratory - MEYER, AOU Meyer 2 2 0 0 0 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 0 0 0 0 4
Blueprint Genetics 1 2 0 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 2 3
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Eurofins-Biomnis 3 0 0 0 0 0 3
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 1 1 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 0 0 1 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 1 1 0 0 0 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 1 1 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
ISCA site 1 2 0 0 0 0 0 2
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 2 0 0 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 2
Tgen's Center for Rare Childhood Disorders, Translational Genomics Research Institute (tgen) 0 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 1
Beijing Children’s hospital, National Center for Children’s Health 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 0 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Bao'an Women's and Children's Hospital 0 0 0 0 1 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
ISCA site 17 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Inter University Centre for Biomedical Research and Super Speciality Hospital, Mahatma Gandhi University 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Medgenome Labs Pvt Ltd 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab, Centre for Addiction and Mental Health 0 1 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Research Centre for Medical Genetics, Federal State Budgetary Scientific Institution 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1

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