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
10 17 103 123 69 4 272

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 6 47 45 31 3 135
not specified 0 0 40 69 41 0 131
Rasopathy 1 3 25 28 27 1 79
Cardiofaciocutaneous syndrome 4 5 1 3 1 2 0 12
Cardio-facio-cutaneous syndrome 4 2 0 0 0 0 6
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
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
Migraine; Short stature; High palate; Hypotension; Malar flattening; Abnormal facial shape; Thin skin; Mitral valve prolapse; Pain 0 0 1 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 6 6 43 67 45 0 167
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 22 35 15 0 75
Invitae 0 2 23 21 11 0 57
ClinGen RASopathy Variant Curation Expert Panel 4 2 4 8 26 0 44
Integrated Genetics/Laboratory Corporation of America 0 0 16 11 14 0 41
PreventionGenetics 0 0 0 11 15 0 26
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 1 2 0 10
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 1 0 0 0 3 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 3 0 4
GeneReviews 3 0 0 0 0 0 3
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
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

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