ClinVar Miner

Variants studied for Noonan syndrome

Included ClinVar conditions (30):
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
189 105 380 141 35 17 818

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 64 24 58 11 15 6 163
SOS1 22 11 76 22 12 2 138
KRAS 15 10 48 36 1 2 109
RAF1 16 21 29 12 0 2 70
BRAF 15 16 16 17 1 2 63
SOS2 2 4 45 6 5 1 62
NRAS 7 0 35 13 0 1 56
RIT1 22 6 9 0 0 1 31
LZTR1 13 4 12 0 0 0 27
RRAS 0 0 19 3 1 0 23
MAP2K1, SNAPC5 0 0 14 4 0 0 18
MAP2K1 2 2 4 8 0 0 16
MAP2K2 0 2 4 3 0 0 9
MAP2K1, TIPIN 0 0 4 4 0 0 8
CBL 3 3 1 0 0 0 7
RRAS2 5 0 0 0 0 0 5
HRAS, LRRC56 1 2 0 1 0 0 4
A2ML1 0 0 2 0 0 0 2
PTPN11, RPL6 0 0 1 1 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
SHOC2 1 0 0 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
Illumina Clinical Services Laboratory,Illumina 0 0 238 114 1 0 353
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 116 50 0 0 0 0 166
Invitae 12 1 70 6 4 0 93
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 53 0 0 0 0 0 53
Service de Génétique Moléculaire,Hôpital Robert Debré 11 10 8 10 0 0 39
Integrated Genetics/Laboratory Corporation of America 18 8 1 0 2 0 29
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
Baylor Genetics 10 2 0 0 0 0 12
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
Institute of Human Genetics,Klinikum rechts der Isar 5 4 0 0 0 0 9
Mendelics 0 1 4 2 1 0 8
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
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
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
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 5 0 0 0 0 0 5
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 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 - CFC International 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 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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Human Genetics,University Hospital Magdeburg 0 1 1 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
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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 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
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
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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