ClinVar Miner

Variants in gene MAP2K1

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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 total
19 36 45 48 29 152

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 6 18 14 11 56
not specified 0 0 18 21 17 53
Rasopathy 3 1 11 8 9 32
Cardio-facio-cutaneous syndrome 6 7 1 5 0 17
Cutaneous melanoma 7 7 0 0 0 14
Noonan syndrome 0 2 2 9 0 13
Lung adenocarcinoma 0 8 0 0 0 8
Malignant melanoma of skin 0 8 0 0 0 8
Neoplasm 0 8 0 0 0 8
Cardiofaciocutaneous syndrome 3 6 0 1 0 0 7
Neoplasm of the large intestine 0 6 0 0 0 6
Adenocarcinoma of stomach 0 5 0 0 0 5
Noonan syndrome 1; Cardiofaciocutaneous syndrome 3 1 1 2 0 0 4
Inborn genetic diseases 2 0 1 0 0 3
Malignant neoplasm of body of uterus 0 3 0 0 0 3
Non-small cell lung cancer 3 0 0 0 0 3
Transitional cell carcinoma of the bladder 0 3 0 0 0 3
Adenocarcinoma of prostate 0 2 0 0 0 2
Non-Hodgkin lymphoma 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 2
Autism spectrum disorder 1 0 0 0 0 1
MAP2K1-Related Disorders 0 0 1 0 0 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 9 5 14 20 18 66
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 6 12 15 8 44
Database of Curated Mutations (DoCM) 10 24 0 0 0 28
Invitae 2 0 11 6 5 24
ClinGen RASopathy Variant Curation Expert Panel 3 3 0 2 9 17
Integrated Genetics/Laboratory Corporation of America 2 0 7 1 2 12
PreventionGenetics 0 0 0 3 8 11
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 1 4 0 8
Illumina Clinical Services Laboratory,Illumina 0 0 2 5 0 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 3 0 2 6
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 4 5
GeneReviews 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 1 2 0 0 4
OMIM 3 0 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 1 2 0 0 0 3
Ambry Genetics 2 0 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Liping Wei Laboratory,Peking University 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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