ClinVar Miner

Variants studied for Noonan syndrome

Included ClinVar conditions (23):
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
158 69 339 157 48 14 749

Gene and significance breakdown #

Total genes and gene combinations: 20
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 59 16 56 11 15 6 152
SOS1 21 9 70 21 12 2 128
KRAS 12 5 48 36 0 1 101
SOS2 2 1 33 23 16 1 76
RAF1 16 20 28 12 0 2 68
NRAS 6 0 35 13 0 1 55
BRAF 8 7 13 16 1 0 44
RIT1 19 5 6 2 1 1 29
RRAS 0 0 16 10 3 0 29
LZTR1 12 3 7 0 0 0 21
MAP2K1, SNAPC5 0 0 14 3 0 0 17
MAP2K1 1 1 3 5 0 0 10
MAP2K1, TIPIN 0 0 4 4 0 0 8
HRAS, LRRC56 1 2 0 0 0 0 3
A2ML1 0 0 2 0 0 0 2
PTPN11, RPL6 0 0 1 1 0 0 2
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 1
CBL 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
SHOC2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 238 114 1 0 353
Invitae 11 2 51 35 20 0 119
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 80 33 0 0 0 0 113
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 62
Fulgent Genetics 36 5 19 1 0 0 61
OMIM 53 0 0 0 0 0 53
Integrated Genetics/Laboratory Corporation of America 18 8 1 0 2 0 29
ClinGen RASopathy Variant Curation Expert Panel, 21 1 0 0 0 0 22
Blueprint Genetics, 11 2 2 0 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 0 5 0 0 0 14
Service de Génétique Moléculaire,Hôpital Robert Debré 11 3 0 0 0 0 14
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 0 1 0 0 0 10
Baylor Miraca Genetics Laboratories, 8 1 0 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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 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
Institute of Human Genetics,Klinikum rechts der Isar 2 1 0 0 0 0 3
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
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
HudsonAlpha Institute for Biotechnology 1 0 0 1 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 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
Foundation for Research in Genetics and Endocrinology,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
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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.