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
219 142 729 276 86 19 1392

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 23 13 159 41 19 2 250
PTPN11 69 37 97 22 20 6 225
SOS2 6 6 116 64 23 1 209
RAF1 17 26 65 21 6 2 122
KRAS 15 13 51 36 2 2 116
NRAS 7 2 61 20 7 1 97
BRAF 15 17 46 14 2 3 91
RRAS 0 0 42 26 4 0 72
RIT1 25 8 29 8 1 1 62
LZTR1 20 7 24 0 0 1 49
MAP2K2 0 2 8 5 0 0 15
MAP2K1 2 4 3 4 0 0 13
SHOC2 1 0 7 3 0 0 11
HRAS, LRRC56 1 2 3 3 0 0 9
SPRED1 0 0 4 4 0 0 8
CBL 3 3 1 0 0 0 7
MAP2K1, SNAPC5 0 0 4 1 1 0 5
RRAS2 5 0 0 0 0 0 5
MAPK1 4 0 0 0 0 0 4
PPP1CB 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
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
CLTC 1 0 0 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

Submitter and significance breakdown #

Total submitters: 80
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 3 0 372 127 30 0 532
Invitae 20 1 173 89 27 0 310
Service de Génétique Moléculaire,Hôpital Robert Debré 14 37 86 50 0 0 187
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 116 50 0 0 0 0 166
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 8 30 0 69
OMIM 64 0 0 0 0 0 64
Fulgent Genetics,Fulgent Genetics 36 5 19 1 0 0 61
Baylor Genetics 27 3 23 0 0 0 53
Integrated Genetics/Laboratory Corporation of America 15 8 1 0 2 0 26
ClinGen RASopathy Variant Curation Expert Panel 23 1 0 0 0 0 24
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 23 0 0 0 0 0 23
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 13 3 4 0 20
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 1 5 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 1 2 0 0 0 16
Blueprint Genetics 11 2 2 0 0 0 15
Institute of Human Genetics, Klinikum rechts der Isar 9 4 0 0 0 0 13
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 7 5 0 1 0 0 13
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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 7 4 0 0 0 0 11
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 6 1 3 0 0 0 10
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 0 0 0 0 0 8
Mendelics 0 1 3 2 1 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
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 Medicine Lab, University of California San Francisco 2 2 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 3 1 0 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 3 0 0 0 3
Undiagnosed Diseases Network,NIH 2 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 1 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Clinical Genetics laboratory, 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
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 1 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 Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Pediatric Endocrinology Clinic,Ege University School of Medicine 1 0 0 0 0 0 1

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