ClinVar Miner

Variants studied for RASopathy

Included ClinVar conditions (63):
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 risk factor not provided total
1608 499 3305 1196 512 1 37 6681

Gene and significance breakdown #

Total genes and gene combinations: 61
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
NF1 1197 301 1870 663 97 1 2 3969
CBL 19 7 213 42 74 0 3 340
SOS1 23 17 205 67 46 0 2 325
PTPN11 83 31 112 41 51 0 6 263
SPRED1 39 6 133 38 30 0 0 241
RAF1 24 25 140 51 37 0 2 219
BRAF 42 50 79 37 27 0 11 187
HRAS, LRRC56 17 8 71 45 12 0 0 143
KRAS 21 14 57 43 5 0 3 132
MAP2K2 8 8 51 39 29 0 1 119
SOS2 2 4 59 32 23 0 1 119
NRAS 8 0 70 23 9 0 1 108
SHOC2 2 1 54 16 28 0 1 96
MAP2K1 12 11 20 22 11 0 3 66
CBL, MCAM 0 0 39 0 18 0 0 57
LOC111811965, NF1 6 3 33 5 1 0 0 47
RRAS 0 0 27 15 4 0 0 46
RIT1 24 6 12 4 1 0 1 41
LZTR1 13 4 12 0 0 0 0 27
MAP2K1, SNAPC5 0 0 20 6 3 0 0 25
EVI2A, EVI2B, NF1, OMG 9 2 1 0 0 0 0 12
LOC108281182, NF1 9 0 0 0 0 0 0 9
MAP2K1, TIPIN 0 0 4 4 0 0 0 8
CBL, FRA11B 0 0 3 0 3 0 0 6
EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, NF1, OMG 4 0 2 0 0 0 0 6
LOC108281181, NF1 5 0 0 0 0 0 0 5
PPP1CB 5 0 0 0 0 0 0 5
PTPN11, RPL6 0 0 2 1 3 0 0 5
RRAS2 5 0 0 0 0 0 0 5
HRAS 0 0 4 0 0 0 0 4
LOC108281180, NF1 4 0 0 0 0 0 0 4
MRAS 3 1 0 0 0 0 0 4
LOC108281169, LOC108281170, NF1 3 0 0 0 0 0 0 3
A2ML1 0 0 2 0 0 0 0 2
EVI2A, EVI2B, LOC108281170, LOC108281180, LOC108281181, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281181, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
EVI2A, EVI2B, LOC108281182, NF1, OMG 2 0 0 0 0 0 0 2
LOC108281169, LOC108281170, LOC108281180, LOC111811965, NF1 1 0 1 0 0 0 0 2
LOC108281170, LOC108281180, NF1 2 0 0 0 0 0 0 2
MKRN2, RAF1 0 0 2 0 0 0 0 2
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 0 0 1 0 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 0 0 0 1
ARF6, DNAAF2, KLHDC1, KLHDC2, LINC01588, LINC01599, LOC100506499, MIR6076, NEMF, POLE2, RN7SL2, RN7SL3, SOS2, VCPKMT 0 0 1 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 0 1
BBIP1, LOC111875823, LOC116216121, MIR4680, MIR548E, PDCD4, RBM20, SHOC2, SMC3 1 0 0 0 0 0 0 1
DMPK 0 0 1 0 0 0 0 1
ERG, EWSR1 1 0 0 0 0 0 0 1
EVI2A, EVI2B, LOC108281181, NF1, OMG 1 0 0 0 0 0 0 1
EVI2A, EVI2B, NF1 1 0 0 0 0 0 0 1
EVI2A, NF1 0 0 0 1 0 0 0 1
EVI2B, NF1 0 0 0 1 0 0 0 1
EVI2B, NF1, OMG 1 0 0 0 0 0 0 1
FAM98B, LINC02694, RASGRP1, SPRED1 1 0 0 0 0 0 0 1
FOXH1, KIFC2 0 0 1 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 1
LOC108281169, LOC108281170, LOC108281180, NF1 1 0 0 0 0 0 0 1
LOC108281169, LOC111811965, NF1 1 0 0 0 0 0 0 1
LOC108281180, LOC108281181, NF1 1 0 0 0 0 0 0 1
NF1, OMG 1 0 0 0 0 0 0 1
TNNT2 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1027 175 2388 910 210 0 0 4710
Illumina Clinical Services Laboratory,Illumina 1 0 757 216 258 0 0 1138
Center for Human Genetics, Inc,Center for Human Genetics, Inc 123 115 44 9 1 0 0 292
ClinGen RASopathy Variant Curation Expert Panel 58 18 22 56 128 0 0 282
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 148 76 0 0 0 0 0 224
Medical Genomics Laboratory,Department of Genetics UAB 187 0 0 0 0 0 0 187
Medical Genetics, University of Parma 108 28 40 0 0 0 0 176
OMIM 174 0 0 0 0 0 0 174
Mendelics 36 17 52 22 7 0 0 134
Fulgent Genetics,Fulgent Genetics 57 6 45 2 0 0 0 110
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 25 0 8 10 43 0 0 86
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 61 1 14 2 0 0 0 78
Integrated Genetics/Laboratory Corporation of America 57 15 1 0 2 0 0 75
Baylor Genetics 41 5 4 0 12 0 0 62
Service de Génétique Moléculaire,Hôpital Robert Debré 11 22 14 13 0 0 0 60
GeneDx 11 2 5 2 35 0 0 55
GeneReviews 41 0 0 0 4 0 0 45
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 37 1 1 0 0 0 0 39
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 29 0 0 0 0 0 0 29
Blueprint Genetics 15 4 4 0 0 0 0 23
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 17 1 4 0 0 0 0 22
Center of Genomic medicine, Geneva,University Hospital of Geneva 17 2 1 0 0 0 0 20
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 16 16
Institute of Human Genetics,Klinikum rechts der Isar 11 4 0 0 0 0 0 15
GenomeConnect - CFC International 0 0 0 0 0 0 14 14
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 4 2 1 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 11 2 0 0 0 0 0 13
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 5 4 4 0 0 0 0 13
Division of Human Genetics,Medical University Innsbruck 12 0 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 8 1 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 2 1 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 9 0 0 0 0 0 0 9
Database of Curated Mutations (DoCM) 0 8 0 0 0 0 0 8
Phosphorus, Inc. 0 0 8 0 0 0 0 8
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 2 1 0 0 0 0 7
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 6 1 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 7 0 0 7
UCLA Clinical Genomics Center, UCLA 2 4 0 0 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 5 0 0 0 0 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 2 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 3 0 3 0 0 0 0 6
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 5 0 0 0 0 0 0 5
Undiagnosed Diseases Network,NIH 3 1 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 0 5
Institute of Human Genetics,University of Goettingen 0 1 3 0 0 0 0 4
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 3 1 0 0 0 0 0 4
Genetics Molecular Biology Lab, Hospital Juan P Garrahan 1 0 3 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 2 0 1 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 1 0 0 0 3
Institute of Human Genetics,Cologne University 0 0 3 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 0 3
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 2 0 0 0 0 3
Yale Center for Mendelian Genomics,Yale University 0 3 0 0 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 0 1 0 0 0 0 3
Molecular Oncology Initiative,University of California, San Francisco 3 0 0 0 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 2 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 0 2
Department of Human Genetics,University Hospital Magdeburg 0 1 1 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 1 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla",Administración Nacional de Laboratorios e Institutos de Salud 1 0 0 0 0 0 0 1
Carson lab,Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 0 1
Fan Lab,Zhengzhou University 1 0 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 0 1
Institute of Neuropathology,University Medical Center Hamburg-Eppendorf 0 0 0 0 0 1 0 1
Genetics Laboratory,Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 0 1
Swedish Neurofibromatosis Center,Swedish Medical Center 0 1 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1

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