ClinVar Miner

Variants in gene MECP2

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 risk factor not provided total
473 54 302 127 180 3 94 1047

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Rett syndrome 379 26 127 10 14 0 0 534
not provided 103 23 71 7 22 0 94 305
not specified 2 0 49 99 161 0 0 270
Severe neonatal-onset encephalopathy with microcephaly 39 4 31 10 51 0 0 133
Mental retardation, X-linked, syndromic 13 26 0 24 2 1 0 0 52
History of neurodevelopmental disorder 8 0 9 15 19 0 0 51
Autism, susceptibility to, X-linked 3 4 0 23 1 0 3 0 30
Angelman syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 5 0 2 4 7 0 0 18
Inborn genetic diseases 9 4 5 0 0 0 0 18
Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; 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
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
MECP2 duplication syndrome 3 0 0 0 0 0 0 3
Attention deficit hyperactivity disorder 1 0 0 1 0 0 0 2
Atypical Rett syndrome 2 0 0 0 0 0 0 2
Intellectual disability 2 0 0 0 0 0 0 2
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
Focal epilepsy 0 1 0 0 0 0 0 1
Global developmental delay; Developmental regression 1 0 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
Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 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: 57
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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
GeneDx 57 14 31 82 29 0 0 213
Invitae 34 3 27 14 58 0 0 136
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 14 15 19 0 0 66
Integrated Genetics/Laboratory Corporation of America 15 4 20 6 15 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
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 16 1 1 1 4 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 11 0 1 0 7 0 0 19
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 8 0 8 0 3 0 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 8 3 0 0 0 17
Athena Diagnostics Inc 7 0 2 0 6 0 0 15
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 7 2 1 2 0 0 0 12
Fulgent Genetics 5 0 5 0 0 0 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 2 2 2 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 1 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 2 1 1 0 0 0 0 4
PreventionGenetics 0 0 0 2 2 0 0 4
Neurogenetics Laboratory - MEYER,AOU Meyer 2 2 0 0 0 0 0 4
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 3 0 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 0 0 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 3
Medical Molecular Genetics,National Research Centre 3 0 0 0 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 0 3
GeneReviews 2 0 0 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 2 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 0 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
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
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
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mendelics 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
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health 0 1 0 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 0 1

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