ClinVar Miner

Variants studied for Noonan syndrome

Included ClinVar conditions (32):
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
201 112 569 196 83 19 1124

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 23 11 129 32 19 2 211
PTPN11 64 26 79 20 19 6 198
SOS2 6 6 85 32 23 1 148
KRAS 15 10 49 35 2 2 110
RAF1 16 21 51 16 5 2 100
NRAS 7 0 60 18 7 1 93
BRAF 15 16 39 12 2 3 82
RRAS 0 0 30 15 4 0 49
RIT1 24 7 14 4 1 1 43
LZTR1 14 5 12 0 0 1 29
MAP2K1 2 2 3 4 0 0 11
MAP2K2 0 2 4 3 0 0 9
CBL 3 3 1 0 0 0 7
MAP2K1, SNAPC5 0 0 4 1 0 0 5
RRAS2 5 0 0 0 0 0 5
HRAS, LRRC56 1 2 0 1 0 0 4
PTPN11, RPL6 0 0 2 1 1 0 4
A2ML1 0 0 2 1 0 0 3
MRAS 3 0 0 0 0 0 3
MKRN2, RAF1 0 0 2 0 0 0 2
PPP1CB 1 1 0 0 0 0 2
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
GJB2 1 0 0 0 0 0 1
MAP2K1, TIPIN 0 0 0 1 0 0 1
SHOC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 371 127 30 0 529
Invitae 17 1 125 49 27 0 219
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 116 50 0 0 0 0 166
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 25 0 7 8 28 0 68
Fulgent Genetics,Fulgent Genetics 36 5 19 1 0 0 61
OMIM 60 0 0 0 0 0 60
Service de Génétique Moléculaire,Hôpital Robert Debré 14 12 8 11 0 0 45
Integrated Genetics/Laboratory Corporation of America 16 8 1 0 2 0 27
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 22 0 0 0 0 0 22
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 1 5 0 0 0 16
Blueprint Genetics 11 2 2 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 1 1 0 0 0 15
Institute of Human Genetics,Klinikum rechts der Isar 9 4 0 0 0 0 13
Baylor Genetics 10 2 0 0 0 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 9 0 1 1 0 0 11
GeneReviews 11 0 0 0 0 0 11
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 11 11
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 7 1 0 0 0 0 8
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Mendelics 0 1 3 2 1 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 3 0 1 0 0 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 1 3 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 1 2 0 0 0 6
Phosphorus, Inc. 0 0 6 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 4 1 0 0 0 0 5
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 4 0 0 0 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 4
GenomeConnect - CFC International 0 0 0 0 0 4 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 2 1 0 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 1 0 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory,University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1

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