ClinVar Miner

Variants in gene MAP2K2

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 not provided total
13 19 153 159 74 4 348

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 56 81 49 0 160
Rasopathy 3 4 71 56 27 1 152
not provided 7 7 45 59 28 3 142
Cardiofaciocutaneous syndrome 4 6 2 7 2 7 0 23
Noonan syndrome 0 0 8 5 0 0 13
Cardio-facio-cutaneous syndrome 4 4 0 1 0 0 9
Melanoma 0 5 0 0 0 0 5
Adenocarcinoma of stomach 0 2 0 0 0 0 2
Malignant melanoma of skin 0 2 0 0 0 0 2
Noonan syndrome and Noonan-related syndrome 0 0 2 0 0 0 2
Noonan syndrome with multiple lentigines 0 0 2 0 0 0 2
Noonan syndrome; Cardio-facio-cutaneous syndrome 0 2 0 0 0 0 2
Pancreatic adenocarcinoma 0 2 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 0 2
Cardiofaciocutaneous syndrome 1 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain 0 0 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 0 1 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1
TAFRO syndrome 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 6 6 43 67 45 0 167
Invitae 2 3 68 58 17 0 148
Integrated Genetics/Laboratory Corporation of America 0 0 27 26 33 0 86
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 23 35 15 0 76
ClinGen RASopathy Variant Curation Expert Panel 4 2 8 9 25 0 48
PreventionGenetics, PreventionGenetics 0 0 0 11 15 0 26
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 7 7 0 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 7 1 2 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 6 0 8
Baylor Genetics 1 0 3 0 3 0 7
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
GeneReviews 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 3
Blueprint Genetics 2 0 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Clinical Genetics laboratory, University of Goettingen 0 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Mendelics 0 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 1 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 0 1 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1

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