ClinVar Miner

Variants in gene MED12

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 association other not provided total
15 22 168 217 88 28 3 6 472

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
not provided 5 11 56 71 68 0 0 0 199
not specified 0 0 16 114 31 0 0 6 151
FG syndrome 7 4 66 20 3 0 0 0 100
Cardiovascular phenotype 0 0 21 30 13 0 0 0 64
History of neurodevelopmental disorder 0 0 8 12 12 0 0 0 31
Uterine leiomyoma 0 0 0 0 0 28 0 0 28
Inborn genetic diseases 0 2 10 0 0 0 0 0 12
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 1 1 7 0 0 0 0 0 9
Ohdo syndrome, X-linked 3 0 3 0 0 0 0 0 6
Adenocarcinoma of prostate 0 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 2 0 0 0 0 0 0 2
Neoplasm of the breast 0 2 0 0 0 0 0 0 2
Pancreatic adenocarcinoma 0 2 0 0 0 0 0 0 2
Squamous cell lung carcinoma 0 2 0 0 0 0 0 0 2
X-linked MED12-related disorder 0 0 2 0 0 0 0 0 2
X-linked mental retardation with marfanoid habitus syndrome 1 0 1 0 0 0 0 0 2
Angiosarcoma 0 0 0 0 0 0 1 0 1
Corpus callosum agenesis; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability 1 0 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 0 0 1
Glioblastoma 0 0 0 0 0 0 1 0 1
Global developmental delay; Expressive language delay; Seizures; Abnormal facial shape; Absent speech; Microcephaly; Ventriculomegaly 0 1 0 0 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 0 0 1
Intellectual functioning disability 0 0 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 0 0 1
Wilms Tumor 0 0 0 0 0 0 1 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association other not provided total
GeneDx 5 9 33 108 44 0 0 0 199
Invitae 0 0 66 80 48 0 0 0 194
Ambry Genetics 0 2 36 37 16 0 0 0 90
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 20 2 15 0 0 0 38
Genetic Services Laboratory, University of Chicago 0 1 14 11 2 0 0 0 28
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 28 0 0 28
PreventionGenetics,PreventionGenetics 0 0 0 6 6 0 0 0 12
GeneReviews 11 0 0 0 0 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 5 1 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 0 0 0 7
ITMI 0 0 0 0 0 0 0 6 6
OMIM 5 0 0 0 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
Mendelics 0 1 0 0 1 0 0 0 2
Database of Curated Mutations (DoCM) 0 2 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 0 1
Raymond Lab,University of Cambridge 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 0 1

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