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
123 55 146 97 49 1 11 391

Condition and significance breakdown #

Total conditions: 48
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 90 22 51 42 18 0 0 206
Noonan syndrome 46 13 50 9 15 0 0 131
Rasopathy 66 8 28 7 23 0 0 128
not specified 12 1 29 44 25 0 5 103
Metachondromatosis 15 0 49 9 2 0 0 75
Noonan syndrome with multiple lentigines 5 0 45 7 0 0 0 57
Noonan syndrome 1 35 10 5 1 0 0 6 49
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 13 4 0 0 0 0 0 17
LEOPARD syndrome 1 12 0 3 0 0 0 0 15
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
Inborn genetic diseases 6 2 0 0 0 0 0 8
Noonan syndrome with multiple lentigines; Noonan syndrome 8 0 0 0 0 0 0 8
Neuroblastoma 0 6 0 0 0 0 0 6
Juvenile myelomonocytic leukemia 5 0 0 0 0 0 0 5
Astrocytoma 0 3 1 0 0 0 0 4
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
Squamous cell lung carcinoma 0 4 0 0 0 0 0 4
Acute myeloid leukemia 0 3 0 0 0 0 0 3
Chronic lymphocytic leukemia 0 3 0 0 0 0 0 3
Neoplasm of brain 0 3 0 0 0 0 0 3
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 2 1 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 disorder 2 0 0 0 0 0 0 2
Adenocarcinoma of stomach 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 0 0 1 0 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 1 0 0 0 0 1
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 1 0 0 0 1
Craniopharyngioma 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
LEOPARD syndrome 1; Noonan 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
Neurofibromas 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
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: 58
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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 54 6 26 32 7 0 0 125
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 61 12 19 20 5 0 0 117
Integrated Genetics/Laboratory Corporation of America 36 6 11 7 7 0 0 67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 33 1 3 2 17 0 0 56
Illumina Clinical Services Laboratory,Illumina 0 0 45 7 0 0 0 52
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 3 13 2 6 0 0 43
OMIM 35 0 0 0 0 0 0 35
Ambry Genetics 9 2 4 15 1 0 0 31
ClinGen RASopathy Variant Curation Expert Panel 10 2 1 4 13 0 0 30
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
Baylor Genetics 18 1 0 0 1 0 0 20
PreventionGenetics,PreventionGenetics 0 0 0 11 9 0 0 20
Fulgent Genetics,Fulgent Genetics 16 0 3 1 0 0 0 20
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 10 2 2 0 0 0 0 14
GeneReviews 12 0 0 0 0 0 0 12
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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 1 0 0 0 0 0 7
Institute of Human Genetics,Klinikum rechts der Isar 4 2 0 0 0 0 0 6
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 6 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 0 0 0 0 0 0 6
ITMI 0 0 0 0 0 0 5 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 0 1 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 4 0 0 0 0 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 3 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 4
Athena Diagnostics Inc 3 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 2 0 0 3
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 3 0 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 2 1 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
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 1 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
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 1 0 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Embryology Laboratory,Victor Chang Cardiac Research Institute 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1

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