ClinVar Miner

Variants in gene MECP2

Minimum submission review status: Collection method:
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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
505 58 337 167 197 3 94 1140

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Rett syndrome 391 29 130 12 18 0 0 554
not provided 119 23 83 40 38 0 94 369
not specified 9 0 50 101 161 0 0 279
Severe neonatal-onset encephalopathy with microcephaly 63 5 65 30 73 0 0 232
History of neurodevelopmental disorder 8 0 7 16 20 0 0 51
Mental retardation, X-linked, syndromic 13 19 0 24 2 0 0 0 44
Autism, susceptibility to, X-linked 3 4 0 23 1 0 3 0 30
Inborn genetic diseases 9 4 5 0 0 0 0 18
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 6 0 6 0 0 0 0 12
Angelman syndrome 7 0 2 0 0 0 0 9
Intellectual disability 5 0 0 0 0 0 0 5
Rett syndrome, zappella variant 4 0 0 0 0 0 0 4
See cases 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
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
Syndromic X-linked intellectual disability Lubs type 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
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
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
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
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: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
RettBASE 369 2 179 1 151 0 92 761
Invitae 56 4 58 51 87 0 0 256
GeneDx 64 14 31 84 31 0 0 224
Genetic Services Laboratory, University of Chicago 50 1 22 15 30 0 0 118
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 18 3 23 7 32 0 0 83
Ambry Genetics 14 4 12 16 20 0 0 66
Integrated Genetics/Laboratory Corporation of America 15 4 18 8 15 0 0 60
CeGaT Praxis fuer Humangenetik Tuebingen 15 6 20 12 0 0 0 53
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 16 0 2 1 9 0 0 28
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 8 0 8 0 3 0 0 19
Athena Diagnostics Inc 7 0 3 1 7 0 0 18
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
Fulgent Genetics,Fulgent Genetics 5 0 5 0 0 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 2 2 0 0 0 9
GeneReviews 8 0 0 0 0 0 0 8
Institute of Human Genetics,Klinikum rechts der Isar 6 1 0 0 0 0 0 7
Medical Molecular Genetics Department, National Research Center 6 0 0 0 0 0 0 6
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 0 3 0 0 0 0 6
Baylor Genetics 3 1 1 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 0 0 0 0 0 5
PreventionGenetics,PreventionGenetics 0 0 0 2 2 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 2 2 0 0 0 0 0 4
Undiagnosed Diseases Network,NIH 4 0 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 4 0 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 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
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
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
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 0 2
Diagnostic Laboratory,Strasbourg University Hospital 2 0 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 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
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
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 1 0 0 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
Section for Clinical Neurogenetics,University of Tübingen 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

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