ClinVar Miner

Variants in gene MAP2K1

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Minimum submission review status: Collection method:
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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
34 50 196 217 55 8 494

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RASopathy 13 6 119 169 16 1 318
not provided 15 7 57 47 43 0 161
not specified 0 0 28 31 18 0 73
Cardiovascular phenotype 1 0 9 42 4 0 56
Cardiofaciocutaneous syndrome 3 12 7 5 0 2 4 27
Noonan syndrome and Noonan-related syndrome 1 1 6 4 7 0 19
MAP2K1-related condition 1 0 3 9 3 0 16
Melanoma 7 7 0 0 0 0 14
Cardio-facio-cutaneous syndrome 5 7 0 1 0 4 13
Inborn genetic diseases 2 1 7 1 0 0 11
Noonan syndrome 0 4 1 4 0 0 9
Lung adenocarcinoma 0 8 0 0 0 0 8
Malignant melanoma of skin 0 8 0 0 0 0 8
Neoplasm 0 8 0 0 0 0 8
Neoplasm of the large intestine 0 6 0 0 0 0 6
Gastric adenocarcinoma 0 5 0 0 0 0 5
Melorheostosis 4 0 0 0 0 0 4
Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 1 1 2 0 0 0 4
Malignant neoplasm of body of uterus 0 3 0 0 0 0 3
Melorheostosis; Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 0 0 0 3 0 0 3
Non-small cell lung carcinoma 3 0 0 0 0 0 3
Transitional cell carcinoma of the bladder 0 3 0 0 0 0 3
Vascular malformation 0 3 0 0 0 0 3
Non-Hodgkin lymphoma 0 2 0 0 0 0 2
Prostate adenocarcinoma 0 2 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 0 2
Autism spectrum disorder 1 0 0 0 0 0 1
MAP2K1-Related Disorder 0 0 0 0 0 1 1
MAP2K1-Related Disorders 0 0 1 0 0 0 1
MAP2K1-related RASopathy 1 0 0 0 0 0 1
MAP2K1-related rasopathy-like syndrome 0 0 1 0 0 0 1
Melorheostosis; Cardiofaciocutaneous syndrome 3 1 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 1 0 0 0 0 0 1
Parkes Weber syndrome 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 5 119 168 15 0 315
GeneDx 12 6 41 41 49 0 149
Ambry Genetics 3 1 16 43 4 0 67
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 6 12 15 7 0 43
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 18 11 9 0 41
Database of Curated Mutations (DoCM) 10 24 0 0 0 0 28
PreventionGenetics, part of Exact Sciences 1 0 3 12 10 0 26
ClinGen RASopathy Variant Curation Expert Panel 7 3 0 2 9 0 21
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 1 6 4 7 0 19
CeGaT Center for Human Genetics Tuebingen 1 0 5 9 1 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 1 6 0 9
Service de Génétique Moléculaire, Hôpital Robert Debré 0 5 1 3 0 0 9
OMIM 8 0 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 1 1 2 3 0 0 7
Eurofins Ntd Llc (ga) 1 0 3 0 2 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 4 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 5 0 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 1 0 0 0 5
GenomeConnect - CFC International 0 0 0 0 0 5 5
GeneReviews 0 0 0 0 0 4 4
Illumina Laboratory Services, Illumina 2 0 1 1 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 3 1 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 1 2 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 0 3 0 0 0 3
3billion 2 1 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 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 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Liping Wei Laboratory, Peking University 1 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 1 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Molecular Genetics, Centre for Human Genetics 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 1 0 0 0 1

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