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 18 104 141 68 4 293

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 6 42 79 40 3 164
not specified 0 0 39 74 41 0 135
Rasopathy 2 3 31 12 26 1 74
Cardiofaciocutaneous syndrome 4 6 1 3 2 7 0 19
Cardio-facio-cutaneous syndrome 4 4 0 1 0 0 9
Noonan syndrome 0 0 4 3 0 0 7
Cutaneous 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
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 1
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 1 0 0 0 1
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
Retinoblastoma 0 0 1 0 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: 31
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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 1 2 29 42 17 0 91
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 23 35 15 0 76
ClinGen RASopathy Variant Curation Expert Panel 4 2 4 8 25 0 43
Integrated Genetics/Laboratory Corporation of America 0 0 9 18 14 0 41
PreventionGenetics,PreventionGenetics 0 0 0 11 15 0 26
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 6 5 0 0 13
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
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 0 0 0 3 0 4
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Institute of Human Genetics,University of Goettingen 0 1 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 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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