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
119 47 143 77 49 1 11 365

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 90 22 54 16 12 0 0 180
Noonan syndrome 46 10 50 9 15 0 0 129
Rasopathy 66 8 20 14 23 0 0 123
not specified 3 0 31 43 25 0 5 94
Metachondromatosis 12 0 48 7 0 0 0 67
Noonan syndrome with multiple lentigines 5 0 45 7 0 0 0 57
Noonan syndrome 1 27 4 3 1 0 0 6 35
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 18 0 3 1 0 0 0 22
Cardiovascular phenotype 5 0 4 10 1 0 0 20
Noonan syndrome 3 13 4 0 0 0 0 0 17
LEOPARD syndrome 1 11 0 3 0 0 0 0 14
History of neurodevelopmental disorder 0 0 2 6 1 0 0 9
Inborn genetic diseases 6 2 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
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; LEOPARD syndrome 1 3 0 0 0 0 0 0 3
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
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
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
Hypertrophic cardiomyopathy 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
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

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GeneDx 90 15 39 28 32 0 0 204
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 61 10 21 20 5 0 0 117
Invitae 51 5 18 11 5 0 0 90
Integrated Genetics/Laboratory Corporation of America 34 7 14 5 7 0 0 67
Illumina Clinical Services Laboratory,Illumina 0 0 45 7 0 0 0 52
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 29 0 3 2 15 0 0 49
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 6 13 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 0 0 0 11 9 0 0 20
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
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 6 0 1 0 0 0 0 7
Database of Curated Mutations (DoCM) 0 7 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
ITMI 0 0 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 3 0 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 0 1 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
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

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