ClinVar Miner

Variants in gene PTPN11

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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 other not provided total
150 114 432 321 93 1 1 22 938

Condition and significance breakdown #

Total conditions: 63
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
RASopathy 106 32 218 233 23 0 0 0 598
not provided 97 35 118 62 56 0 0 0 331
Noonan syndrome 1 63 27 73 15 6 0 0 9 173
Cardiovascular phenotype 29 3 62 66 6 0 0 0 166
not specified 6 1 53 61 31 0 0 5 139
Metachondromatosis 27 4 63 5 29 0 0 0 128
LEOPARD syndrome 1 29 3 59 1 29 0 0 9 124
Noonan syndrome 47 20 28 6 16 0 0 0 112
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 32 6 29 18 1 0 0 0 86
Noonan syndrome and Noonan-related syndrome 33 5 16 3 7 0 0 0 64
PTPN11-related condition 16 4 4 0 0 0 0 0 24
Juvenile myelomonocytic leukemia 5 0 0 0 13 0 0 0 18
Noonan syndrome with multiple lentigines 8 0 6 2 0 0 0 0 16
Noonan syndrome 3 12 3 0 0 0 0 0 0 15
Inborn genetic diseases 11 1 2 0 0 0 0 0 14
PTPN11 Related Disorders 10 0 0 0 0 0 0 0 10
Juvenile myelomonocytic leukemia; Noonan syndrome 8 1 0 0 0 0 0 0 9
Noonan syndrome with multiple lentigines; Noonan syndrome 8 0 0 0 0 0 0 0 8
Noonan syndrome 1; LEOPARD syndrome 1 7 0 0 0 0 0 0 0 7
Neuroblastoma 0 6 0 0 0 0 0 0 6
See cases 4 0 1 0 0 0 0 0 5
History of neurodevelopmental disorder 0 0 0 3 1 0 0 0 4
Multiple myeloma 0 4 0 0 0 0 0 0 4
Neoplasm of the large intestine 0 4 0 0 0 0 0 0 4
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 3 1 0 0 0 0 0 0 4
Squamous cell lung carcinoma 0 4 0 0 0 0 0 0 4
Acute myeloid leukemia 0 3 0 0 0 0 0 0 3
Astrocytoma 0 3 0 0 0 0 0 0 3
B-cell chronic lymphocytic leukemia 0 3 0 0 0 0 0 0 3
Intellectual disability 0 1 2 0 0 0 0 0 3
Neoplasm of brain 0 3 0 0 0 0 0 0 3
Non-immune hydrops fetalis 3 0 0 0 0 0 0 0 3
PTPN11-related disorder 3 0 0 0 0 0 0 0 3
Hypertrophic cardiomyopathy 2 0 0 0 0 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 1 0 0 0 0 0 0 1
Acute megakaryoblastic leukemia in down syndrome 0 1 0 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 0 1
Astrocytic tumor 1 0 0 0 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 0 0 1
CBL-related disorder 1 0 0 0 0 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 1 0 0 0 0 0 1
Early T cell progenitor acute lymphoblastic leukemia 1 0 0 0 0 0 0 0 1
Embryonal rhabdomyosarcoma 0 0 0 0 0 0 1 0 1
Epicanthus; Short stature; Abnormal cardiovascular system morphology; Abnormal pinna morphology; Wide nasal bridge; Microcephaly; Depressed nasal ridge 1 0 0 0 0 0 0 0 1
Failure to thrive; Atrial septal defect, ostium secundum type; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus 1 0 0 0 0 0 0 0 1
Gastric adenocarcinoma 0 1 0 0 0 0 0 0 1
Hereditary cancer-predisposing syndrome 1 0 0 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 0 1
Lymphoma; B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 0 0 1
Malignant neoplastic disease 0 0 1 0 0 0 0 0 1
Neurodevelopmental abnormality 1 0 0 0 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 0 0 1
Neurofibroma 0 0 1 0 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 1 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Brachycephaly; Ptosis; Microcephaly 1 0 0 0 0 0 0 0 1
Premature ventricular contraction 0 0 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 0 0 1
Proportionate short stature 0 1 0 0 0 0 0 0 1
Scoliosis; Abnormal facial shape; Cafe-au-lait spot; Specific learning disability; Intellectual disability, mild 1 0 0 0 0 0 0 0 1
Short stature; Abnormal cardiovascular system morphology 1 0 0 0 0 0 0 0 1
Short stature; Abnormal facial shape; Strabismus 1 0 0 0 0 0 0 0 1
Ventricular tachycardia 0 1 0 0 0 0 0 0 1
Werner syndrome 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 97 25 217 234 15 0 0 0 588
GeneDx 93 17 86 57 63 0 0 0 316
Ambry Genetics 33 4 64 66 6 0 0 0 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 54 9 36 24 18 0 0 0 141
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 62 12 19 21 5 0 0 0 119
Illumina Laboratory Services, Illumina 6 0 66 17 28 0 0 0 94
Fulgent Genetics, Fulgent Genetics 28 4 29 18 1 0 0 0 80
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 42 2 5 5 18 0 0 0 72
Genome Diagnostics Laboratory, The Hospital for Sick Children 32 5 16 3 7 0 0 0 63
CeGaT Center for Human Genetics Tuebingen 29 1 7 15 4 0 0 0 56
Preventiongenetics, part of Exact Sciences 16 4 4 11 9 0 0 0 44
Eurofins Ntd Llc (ga) 19 3 13 2 6 0 0 0 43
Baylor Genetics 33 2 2 0 1 0 0 0 38
ClinGen RASopathy Variant Curation Expert Panel 13 3 3 6 13 0 0 0 38
OMIM 35 0 0 0 0 0 0 0 35
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 20 5 3 1 4 0 0 0 33
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 25 1 0 6 1 0 0 0 33
Blueprint Genetics 26 2 1 0 0 0 0 0 29
Service de Génétique Moléculaire, Hôpital Robert Debré 0 9 18 2 0 0 0 0 29
3billion 26 2 0 0 0 0 0 0 28
Mayo Clinic Laboratories, Mayo Clinic 18 0 6 0 0 0 0 0 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 18 2 3 0 0 0 0 0 23
Genetic Services Laboratory, University of Chicago 3 0 4 9 4 0 0 0 20
Revvity Omics, Revvity Omics 15 0 5 0 0 0 0 0 20
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 13 3 0 0 0 0 0 0 16
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 10 2 2 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 0 3 0 2 0 0 0 13
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 13 0 0 0 0 0 0 0 13
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 13 0 0 0 13
GeneReviews 0 0 0 0 0 0 0 12 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 1 0 0 0 0 0 0 12
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 8 1 0 3 0 0 0 0 12
MGZ Medical Genetics Center 9 2 0 0 0 0 0 0 11
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 4 0 1 0 0 0 0 11
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 11 0 0 0 0 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 10 0 1 0 0 0 0 0 11
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 8 2 0 0 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 7 0 0 3 0 0 0 0 10
Center for Human Genetics, Inc, Center for Human Genetics, Inc 9 0 0 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 7 1 1 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 0 0 0 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 9 0 0 0 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 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 1 1 2 1 0 0 0 8
Mendelics 3 0 1 2 2 0 0 0 8
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 1 0 0 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 6 0 0 2 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 7 0 1 0 0 0 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 8 0 0 0 0 0 0 0 8
AiLife Diagnostics, AiLife Diagnostics 4 2 2 0 0 0 0 0 8
DASA 8 0 0 0 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 7 0 1 0 0 0 0 0 8
Athena Diagnostics Inc 6 0 0 0 1 0 0 0 7
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 6 1 0 0 0 0 0 0 7
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 3 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 7 0 0 0 0 0 0 0 7
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 4 0 1 0 0 0 7
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 0 6 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 0 0 0 0 0 0 0 6
Genomic Medicine Lab, University of California San Francisco 3 2 1 0 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 5 0 1 0 0 0 0 0 6
Clinical Genetics, Academic Medical Center 1 0 0 0 4 0 0 0 5
ITMI 0 0 0 0 0 0 0 5 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 1 2 0 0 0 5
Centogene AG - the Rare Disease Company 2 2 0 0 0 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 1 2 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 4 0 0 0 0 0 0 0 4
Molecular Genetics, Centre for Human Genetics 4 0 0 0 0 0 0 0 4
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 4 0 0 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 0 0 3
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 0 0 0 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 2 0 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 2 1 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 0 0 3
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 3 0 0 0 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 3 0 0 0 0 0 0 0 3
Lifecell International Pvt. Ltd 3 0 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 0 0 2
Department of Human Genetics, University Hospital Magdeburg 0 1 1 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 1 0 1 0 0 0 0 0 2
New York Genome Center 1 0 1 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 0 1
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory, Brigham and Women's Hospital 1 0 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 0 0 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 1
Embryology Laboratory, Victor Chang Cardiac Research Institute 1 0 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 0 0 0 0 0 1 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 1 0 0 0 0 0 0 0 1
Investigational Cancer Therapeutics, MD Anderson Cancer Center 0 0 1 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 1 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 0 0 1

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