ClinVar Miner

Variants in gene MED12

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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 other not provided total
44 75 1016 1060 257 3 298 2402

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
FG syndrome 10 8 564 736 181 0 0 1499
not provided 19 22 325 202 84 0 0 630
Familial thoracic aortic aneurysm and aortic dissection 3 7 246 332 17 0 0 605
not specified 0 0 34 85 34 0 5 142
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 128 128
MED12-Related Disorders 5 6 30 45 3 0 0 89
FG syndrome 1 4 6 23 2 7 0 50 87
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 53 53
Blepharophimosis - intellectual disability syndrome, MKB type 7 12 13 0 6 0 0 35
Uterine leiomyoma 0 0 0 0 0 0 28 28
X-linked intellectual disability with marfanoid habitus 2 3 14 3 6 0 0 27
Cholestasis-pigmentary retinopathy-cleft palate syndrome 10 6 3 0 0 0 0 17
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 1 0 9 6 1 0 0 17
MED12-related intellectual disability syndrome 4 1 8 0 0 0 2 15
Intellectual disability 1 1 7 1 2 0 0 12
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 1 1 10 0 0 0 0 12
Cervical cancer 0 0 0 0 0 0 7 7
Inborn genetic diseases 0 2 5 0 0 0 0 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 6 6
Melanoma 0 0 0 0 0 0 5 5
Cardiovascular phenotype 0 0 2 0 2 0 0 4
See cases 0 2 2 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 0 3 3
Nonspecific Intellectual Disability 2 1 0 0 0 0 0 3
History of neurodevelopmental disorder 0 0 2 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Angiosarcoma 0 0 0 0 0 1 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 0 1 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Imperforate anus; Global developmental delay; Abnormal facial shape; Broad thumb; Intellectual disability 1 0 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 1 0 0 0 0 0 1
Dilated cardiomyopathy 1Y 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 0 1
Ewing sarcoma 0 1 0 0 0 0 0 1
Glioblastoma 0 0 0 0 0 1 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 1
Global developmental delay; Expressive language delay; Seizure; Abnormal facial shape; Absent speech; Microcephaly; Ventriculomegaly 0 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
MED12-related neurodevelopmental delay 0 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Medulloblastoma SHH activated and TP53 wild-type 0 1 0 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH 0 1 0 0 0 0 0 1
Medulloblastoma non-WNT/non-SHH group 3 0 1 0 0 0 0 0 1
Nephroblastoma 0 0 0 0 0 1 0 1
Neurodevelopmental delay 0 1 0 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 0 1 1
Sarcoma 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 0 0 0 1
X-linked MED12-related disorder 0 0 1 0 0 0 0 1
X-linked MED12-related disorders 0 1 0 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome 0 0 0 0 0 0 1 1
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome; MED12-related intellectual disability syndrome 0 0 0 0 0 0 1 1
X-linked intellectual disability with marfanoid habitus; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type; Neurodevelopmental disorder; FG syndrome; MED12-related intellectual disability syndrome 0 0 0 0 0 0 1 1
X-linked intellectual disability with marfanoid habitus; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type; Syndromic intellectual disability; Neurodevelopmental disorder; FG syndrome 0 0 0 0 0 0 1 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1 0 0 1 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 108
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 8 571 737 181 0 0 1507
Ambry Genetics 3 9 255 332 19 0 0 617
GeneDx 16 13 256 159 97 0 0 541
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 210 210
CeGaT Center for Human Genetics Tuebingen 1 2 27 88 0 0 0 118
PreventionGenetics, part of Exact Sciences 0 3 28 51 9 0 0 91
GeneReviews 0 0 0 0 0 0 50 50
Breakthrough Genomics, Breakthrough Genomics 0 0 1 12 36 0 0 49
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 20 15 1 0 0 37
Eurofins Ntd Llc (ga) 0 1 19 2 14 0 0 36
Genetic Services Laboratory, University of Chicago 0 1 15 14 4 0 0 34
Rajkovic Lab, University of Pittsburgh 0 0 0 0 0 0 28 28
Fulgent Genetics, Fulgent Genetics 1 0 9 5 1 0 0 16
Revvity Omics, Revvity 1 1 13 0 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 7 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 3 8 1 0 0 12
Daryl Scott Lab, Baylor College of Medicine 5 3 4 0 0 0 0 12
3billion 3 3 5 0 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 4 3 2 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 9 1 0 0 10
Baylor Genetics 4 2 3 0 0 0 0 9
OMIM 9 0 0 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 2 1 3 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 0 3 5 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 4 1 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 5 1 0 0 7
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 1 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 1 5 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 2 2 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 1 1 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 0 5
ITMI 0 0 0 0 0 0 5 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 0 5
Mendelics 0 2 2 0 1 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 0 1 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 2 1 1 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 2 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 3 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 3 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 0 3 0 0 0 0 3
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 3 0 3
Illumina Laboratory Services, Illumina 0 1 2 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 3 0 0 3
Solve-RD Consortium 0 3 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 2 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 0 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Athena Diagnostics 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 0 1 0 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 0 1
Raymond Lab, University of Cambridge 0 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 0 1

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