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 other not provided total
131 76 206 114 66 1 11 481

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 92 23 53 30 13 0 0 196
Rasopathy 81 13 58 34 23 0 0 192
Noonan syndrome 1 48 16 66 15 5 0 6 144
not specified 11 1 36 52 25 0 5 116
Noonan syndrome 46 20 28 6 16 0 0 111
Metachondromatosis 15 0 62 5 28 0 0 110
LEOPARD syndrome 1 18 1 57 1 28 0 0 105
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 18 0 3 1 0 0 0 22
Cardiovascular phenotype 5 0 3 11 1 0 0 20
Noonan syndrome 3 12 4 0 0 0 0 0 16
Noonan syndrome with multiple lentigines 6 0 6 2 0 0 0 14
Inborn genetic diseases 10 0 1 0 0 0 0 11
History of neurodevelopmental disorder 0 0 1 7 1 0 0 9
Juvenile myelomonocytic leukemia; Noonan syndrome 8 1 0 0 0 0 0 9
Noonan syndrome with multiple lentigines; Noonan syndrome 8 0 0 0 0 0 0 8
Neuroblastoma 0 6 0 0 0 0 0 6
none provided 3 0 1 0 2 0 0 6
Juvenile myelomonocytic leukemia 5 0 0 0 0 0 0 5
Multiple myeloma 0 4 0 0 0 0 0 4
Neoplasm of the large intestine 0 4 0 0 0 0 0 4
Noonan syndrome 1; LEOPARD syndrome 1 4 0 0 0 0 0 0 4
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 3 1 0 0 0 0 0 4
Squamous cell lung carcinoma 0 4 0 0 0 0 0 4
Acute myeloid leukemia 0 3 0 0 0 0 0 3
Astrocytoma 0 3 0 0 0 0 0 3
Chronic lymphocytic leukemia 0 3 0 0 0 0 0 3
Intellectual disability 0 1 2 0 0 0 0 3
Neoplasm of brain 0 3 0 0 0 0 0 3
Non-immune hydrops fetalis 3 0 0 0 0 0 0 3
Hypertrophic cardiomyopathy 2 0 0 0 0 0 0 2
Noonan syndrome and Noonan-related syndrome 1 1 0 0 0 0 0 2
PTPN11 Related Disorders 2 0 0 0 0 0 0 2
PTPN11-related disorder 2 0 0 0 0 0 0 2
Abnormal bleeding; Thrombocytopenia 0 1 0 0 0 0 0 1
Acute megakaryoblastic leukemia in down syndrome 0 1 0 0 0 0 0 1
Adenocarcinoma of stomach 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 1 0 0 0 0 1
Early T cell progenitor acute lymphoblastic leukemia 1 0 0 0 0 0 0 1
Embryonal rhabdomyosarcoma 0 0 0 0 0 1 0 1
Failure to thrive; Secundum atrial septal defect; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus 1 0 0 0 0 0 0 1
Hereditary cancer-predisposing syndrome 1 0 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 1
Lymphoma; B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 0 1
Malignant neoplastic disease 0 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 0 1
Neurofibroma 0 0 1 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 0 1 0 0 0 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1 0 0 0 0 0 0 1
Pectus excavatum; Global developmental delay; Brachycephaly; Ptosis; Microcephaly 1 0 0 0 0 0 0 1
Premature ventricular contraction 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 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 1
Short stature; Abnormality of cardiovascular system morphology 1 0 0 0 0 0 0 1
Ventricular tachycardia 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GeneDx 90 15 38 29 32 0 0 204
Invitae 71 8 57 44 7 0 0 187
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 62 12 19 21 5 0 0 119
Integrated Genetics/Laboratory Corporation of America 46 8 20 15 10 0 0 99
Illumina Clinical Services Laboratory,Illumina 2 0 66 17 27 0 0 89
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 34 1 4 2 17 0 0 58
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 3 13 2 6 0 0 43
ClinGen RASopathy Variant Curation Expert Panel 13 3 3 6 13 0 0 38
OMIM 35 0 0 0 0 0 0 35
Ambry Genetics 13 0 5 15 1 0 0 34
Baylor Genetics 26 1 1 0 1 0 0 29
Service de Génétique Moléculaire,Hôpital Robert Debré 0 9 18 2 0 0 0 29
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 18 2 2 1 4 0 0 27
Blueprint Genetics 25 1 1 0 0 0 0 27
PreventionGenetics, PreventionGenetics 0 0 0 11 9 0 0 20
Fulgent Genetics,Fulgent Genetics 16 0 3 1 0 0 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 17 0 3 0 0 0 0 20
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 10 2 2 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 0 3 0 2 0 0 13
GeneReviews 12 0 0 0 0 0 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 9 0 0 0 0 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 7 1 1 0 0 0 0 9
Institute of Human Genetics, Klinikum rechts der Isar 7 2 0 0 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 4 0 1 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 2 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 9
Center of Genomic medicine, Geneva,University Hospital of Geneva 7 1 0 0 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 6 0 0 2 0 0 0 8
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 8 0 0 0 0 0 0 8
Mendelics 2 0 1 2 2 0 0 7
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 7 0 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 1 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 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 7 0 0 0 0 0 0 7
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 6 6
Genomic Medicine Lab, University of California San Francisco 3 2 1 0 0 0 0 6
ITMI 0 0 0 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 0 5
Athena Diagnostics Inc 3 0 0 0 1 0 0 4
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 2 0 1 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 1 2 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 1 2 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 0 3
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 3 0 0 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 2 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 2 1 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 0 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1 0 2
Department of Human Genetics, University Hospital Magdeburg 0 1 1 0 0 0 0 2
Gharavi Laboratory,Columbia University 1 0 1 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 0 2
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 1 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 1
Birmingham Platelet Group; University of Birmingham 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Embryology Laboratory,Victor Chang Cardiac Research Institute 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 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 1
New York Genome Center 0 0 1 0 0 0 0 1
Investigational Cancer Therapeutics,MD Anderson Cancer Center 0 0 1 0 0 0 0 1
Pediatric Endocrinology Clinic,Ege University School of Medicine 1 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 1

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