ClinVar Miner

Variants in gene MECP2

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 risk factor not provided total
555 78 392 200 203 3 96 1274

Condition and significance breakdown #

Total conditions: 37
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Rett syndrome 399 36 135 14 18 0 1 573
not provided 128 27 85 42 38 0 94 385
Severe neonatal-onset encephalopathy with microcephaly 109 8 123 69 76 0 0 379
not specified 8 0 52 101 164 0 0 281
History of neurodevelopmental disorder 8 0 7 16 20 0 0 51
Mental retardation, X-linked, syndromic 13 19 1 24 3 0 0 0 46
Autism, susceptibility to, X-linked 3 7 2 24 1 1 3 0 37
Inborn genetic diseases 13 4 6 0 0 0 0 23
Intellectual disability 10 2 0 3 0 0 0 15
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3 7 0 6 0 0 0 0 13
Angelman syndrome 7 0 2 0 0 0 0 9
none provided 3 1 0 0 5 0 0 9
See cases 6 0 0 0 0 0 0 6
Rett syndrome, zappella variant 4 0 0 0 0 0 0 4
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome 2 0 1 0 0 0 0 3
Syndromic X-linked intellectual disability Lubs type 2 1 0 0 0 0 0 3
Angelman syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 2 0 0 0 0 0 0 2
Attention deficit hyperactivity disorder 1 0 0 1 0 0 0 2
Atypical Rett syndrome 2 0 0 0 0 0 0 2
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome 2 0 0 0 0 0 0 2
Behavioral abnormality 0 1 0 0 0 0 0 1
Delayed speech and language development; Delayed gross motor development; Loss of ability to walk 1 0 0 0 0 0 0 1
Epilepsy; Intellectual disability 0 1 0 0 0 0 0 1
Epileptic encephalopathy 1 0 0 0 0 0 0 1
Facial hypertrichosis; Laryngomalacia; Dystonia; Stridor; Bulbar palsy; Sick sinus syndrome; Progressive neurologic deterioration; Central apnea; Abnormality of muscle fibers; Motor neuron atrophy; Central hypotonia; Abnormal synaptic transmission 0 1 0 0 0 0 0 1
Focal epilepsy 0 1 0 0 0 0 0 1
Global developmental delay; Developmental regression 1 0 0 0 0 0 0 1
MECP2-Related Disorder 0 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 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 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 0 1
Non-syndromic X-linked intellectual disability 1 0 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
Seizures; Absent speech; Developmental regression; Severe global developmental delay; Irregular respiration 1 0 0 0 0 0 0 1
Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 0 1
Stereotypy; Delayed speech and language development; Delayed gross motor development; Bruxism 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 89
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RettBASE 369 2 179 1 151 0 92 761
Invitae 101 7 116 84 90 0 0 398
GeneDx 64 14 31 84 31 0 0 224
Genetic Services Laboratory, University of Chicago 50 1 22 14 31 0 0 118
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 18 3 23 7 32 0 0 83
Integrated Genetics/Laboratory Corporation of America 20 6 21 12 20 0 0 79
Ambry Genetics 18 4 13 16 20 0 0 71
CeGaT Praxis fuer Humangenetik Tuebingen 20 5 22 13 0 0 0 60
OMIM 38 0 0 0 0 3 0 39
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 15 7 10 2 2 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 17 1 2 1 11 0 0 32
Mendelics 11 3 2 3 5 0 0 24
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 0 23
Athena Diagnostics Inc 7 0 3 1 9 0 0 20
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 8 0 8 0 3 0 0 19
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 17 2 0 0 0 0 0 19
Institute of Human Genetics, University of Leipzig Medical Center 10 2 2 1 1 0 0 16
Baylor Genetics 7 1 5 0 0 0 0 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 0 1 1 2 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 5 0 1 4 3 0 0 13
Center for Human Genetics, Inc,Center for Human Genetics, Inc 7 2 1 2 0 0 0 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 2 1 0 1 0 0 11
Fulgent Genetics,Fulgent Genetics 5 0 5 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 2 2 1 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 0 3 2 0 0 0 9
GeneReviews 8 0 0 0 0 0 0 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 7 1 0 0 0 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 4 2 0 2 0 0 0 8
Institute of Human Genetics, Klinikum rechts der Isar 6 1 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 0 1 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 1 0 1 0 0 0 6
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 4 1 0 0 0 0 0 5
Undiagnosed Diseases Network,NIH 5 0 0 0 0 0 0 5
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 5 0 0 0 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 0 4
Blueprint Genetics 1 3 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 2 2 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 2 1 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 2 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 0 3
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 0 0 0 2
Lineagen, Inc 0 0 2 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 1 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
ISCA site 1 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 2 0 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 0 2
TIDEX, University of British Columbia 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 0 1
ISCA site 17 1 0 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory,Institute of Genetics and Cytology 1 0 0 0 0 0 0 1
Research Centre for Medical Genetics,Federal State Budgetary Scientific Institution 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 1
Beijing Children’s hospital, National Center for Children’s Health 0 1 0 0 0 0 0 1
New York Genome Center 0 0 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.