ClinVar Miner

Variants studied for RASopathy

Included ClinVar conditions (34):
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
946 369 1839 879 273 18 4093

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NF1 662 241 1197 531 60 1 2606
SOS1 22 11 122 51 35 2 222
PTPN11 78 23 73 24 34 6 207
CBL 7 0 82 35 22 0 144
BRAF 32 32 40 32 25 1 135
RAF1 21 23 65 41 13 2 135
KRAS 20 12 52 43 4 2 126
MAP2K2 6 5 27 29 28 1 87
SOS2 2 1 33 23 16 1 76
NRAS 8 0 40 17 2 1 67
MAP2K1 9 7 13 13 9 0 44
SHOC2 1 0 15 10 10 0 35
LOC111811965, NF1 5 2 22 5 0 0 34
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 16 5 2 0 20
HRAS, LRRC56 6 2 0 2 9 0 19
LOC108281182, NF1 7 1 0 0 0 0 8
MAP2K1, TIPIN 0 0 4 4 0 0 8
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG 3 0 2 0 0 0 5
LOC108281181, NF1 5 0 0 0 0 0 5
LOC108281180, NF1 4 0 0 0 0 0 4
EVI2A, EVI2B, NF1, OMG 3 0 0 0 0 0 3
LOC108281169, LOC108281170, NF1 3 0 0 0 0 0 3
A2ML1 0 0 2 0 0 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, NF1 1 0 1 0 0 0 2
LOC108281170, LOC108281180, NF1 2 0 0 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
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 1
DMPK 0 0 1 0 0 0 1
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, LOC108281182, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, NF1, OMG 1 0 0 0 0 0 1
EVI2A, EVI2B, NF1 1 0 0 0 0 0 1
EVI2B, NF1, OMG 1 0 0 0 0 0 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 1
LOC108281169, LOC111811965, NF1 1 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 1
MRAS 0 1 0 0 0 0 1
SPRED1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 522 121 1399 682 158 0 2882
Illumina Clinical Services Laboratory,Illumina 1 0 295 141 3 0 440
Center for Human Genetics, Inc 115 112 42 9 1 0 279
ClinGen RASopathy Variant Curation Expert Panel, 42 9 7 47 121 0 226
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 133 64 0 0 0 0 197
Medical Genetics,University of Parma 81 31 41 0 0 0 153
OMIM 121 0 0 0 0 0 121
Fulgent Genetics 53 6 43 1 0 0 103
Medical Genomics Laboratory,Department of Genetics UAB 89 0 0 0 0 0 89
Integrated Genetics/Laboratory Corporation of America 52 16 1 0 2 0 71
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 50 0 11 2 0 0 63
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 24 0 7 6 25 0 62
Baylor Miraca Genetics Laboratories, 38 3 4 0 12 0 57
GeneDx 11 1 7 1 35 0 55
Mendelics 3 1 31 2 0 0 37
GeneReviews 26 0 0 0 0 0 26
Center of Genomic medicine, Geneva,University Hospital of Geneva 16 2 1 0 0 0 19
Blueprint Genetics, 12 3 3 0 0 0 18
Service de Génétique Moléculaire,Hôpital Robert Debré 11 3 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 12 0 2 0 0 0 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 12 12
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 8
Phosphorus, Inc. 0 0 7 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 5 1 0 0 0 0 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 2 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 2 3 0 0 0 0 5
HudsonAlpha Institute for Biotechnology 3 0 1 1 0 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 4 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 4 0 0 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 1 1 0 0 0 3
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 2 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 1 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 1 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 2 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
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 0 2
Department of Molecular Diagnostics,Institute of Oncology 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 2
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
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Carson lab,Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Fan Lab,Zhengzhou University 1 0 0 0 0 0 1
Genetics Molecular Biology Lab,Hospital Juan P Garrahan 0 0 1 0 0 0 1

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