ClinVar Miner

Variants in gene NF1

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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 not provided total
2161 611 3348 1582 211 1 96 7420

Condition and significance breakdown #

Total conditions: 63
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Neurofibromatosis, type 1 1861 474 2683 1031 94 1 4 5917
Hereditary cancer-predisposing syndrome 267 65 1294 769 21 0 0 2413
not provided 240 76 246 388 105 0 77 1099
not specified 57 8 61 150 91 0 16 348
Café-au-lait macules with pulmonary stenosis 3 0 91 23 29 0 0 146
Neurofibromatosis, familial spinal 5 0 89 23 29 0 0 146
Neurofibromatosis-Noonan syndrome 5 0 76 19 46 0 0 146
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 16 1 22 0 0 0 0 39
Neurofibromatosis, type 1; Tibial pseudoarthrosis 37 1 1 0 0 0 0 39
none provided 5 0 6 4 8 0 0 23
Inborn genetic diseases 9 2 4 0 0 0 0 15
Hereditary breast and ovarian cancer syndrome 0 1 13 0 0 0 0 14
Rhabdomyosarcoma (disease) 8 1 0 0 0 0 0 9
Neurofibroma 8 0 0 0 0 0 0 8
Juvenile myelomonocytic leukemia 4 0 2 0 0 0 0 6
Midaortic syndrome 0 5 0 0 0 0 0 5
Neurofibromatosis type 6 1 2 2 0 0 0 0 5
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 2 0 0 0 0 3
Rasopathy 0 3 0 0 0 0 0 3
See cases 2 0 1 0 0 0 0 3
Acute monocytic leukemia; Acute monoblastic leukemia 0 0 2 0 0 0 0 2
Cafe-au-lait spot 2 0 0 0 0 0 0 2
Ewing sarcoma; Neurofibromatosis, type 1 2 0 0 0 0 0 0 2
Intellectual disability 2 0 0 0 0 0 0 2
Juvenile myelomonocytic leukemia; Neurofibroma 0 2 0 0 0 0 0 2
Optic nerve glioma 2 0 0 0 0 0 0 2
Autism spectrum disorder 0 1 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 0 1
Cafe-au-lait spot; Axillary freckling; Plexiform neurofibroma 0 1 0 0 0 0 0 1
Cafe-au-lait spot; Macrocephalus; Tibial pseudoarthrosis 0 1 0 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Diffuse intrinsic pontine glioma 0 0 1 0 0 0 0 1
Ganglioglioma 0 1 0 0 0 0 0 1
Hyperactivity; Febrile seizures; Visual loss; Cafe-au-lait spot; Strabismus; Abnormality of vision; Abnormal electroretinogram; Abnormal macular morphology; Abnormality of macular pigmentation; EEG with generalized slow activity 0 0 1 0 0 0 0 1
Inguinal hernia; Cafe-au-lait spot; Delayed speech and language development; Specific learning disability; Axillary freckling; Inguinal freckling; Familial predisposition 1 0 0 0 0 0 0 1
Juvenile myelomonocytic leukemia; Cafe-au-lait spot 1 0 0 0 0 0 0 1
Keratoconus 0 0 1 0 0 0 0 1
Lisch nodules; Subcutaneous neurofibromas 1 0 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 1
Moyamoya angiopathy 0 0 1 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 0 1
Myopathy, centronuclear, 5 0 0 0 0 1 0 0 1
Neuroblastoma 0 0 1 0 0 0 0 1
Neurofibroma; Dilatation 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Axillary freckling; Large cafe-au-lait macules with irregular margins; Lisch nodules; Delayed fine motor development; Inguinal freckling 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Delayed speech and language development; Premature birth; Infantile muscular hypotonia 0 0 1 0 0 0 0 1
Neurofibromatosis type 6; Motor delay; Focal seizures 0 0 1 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma; Abnormality of vision 0 1 0 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma; Axillary freckling 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma; Axillary freckling; Inguinal freckling 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma; Axillary freckling; Optic nerve glioma 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Neurofibroma; Cafe-au-lait spot; Axillary freckling; Inguinal freckling 0 1 0 0 0 0 0 1
Neurofibromatosis type 6; Optic nerve glioma 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Subcutaneous neurofibromas 1 0 0 0 0 0 0 1
Neurofibromatosis type 6; Thoracic scoliosis; Subcutaneous neurofibromas 0 1 0 0 0 0 0 1
Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 1 0 0 0 0 0 0 1
Pilocytic astrocytoma 1 0 0 0 0 0 0 1
Pre-B-cell acute lymphoblastic leukemia 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1
Spinal neurofibromas 1 0 0 0 0 0 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 100
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1389 203 2462 1117 70 0 0 5240
Ambry Genetics 273 63 1291 769 21 0 0 2416
GeneDx 175 49 178 208 64 0 1 675
Genome Diagnostics Laboratory, The Hospital for Sick Children 183 91 71 23 25 0 0 393
Center for Human Genetics, Inc,Center for Human Genetics, Inc 103 110 40 8 0 0 0 261
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 82 10 25 17 58 0 0 192
Medical Genetics, University of Parma 108 28 40 0 0 0 0 176
Medical Genomics Laboratory,Department of Genetics UAB 166 0 0 0 0 0 0 166
Illumina Clinical Services Laboratory,Illumina 2 0 92 35 46 0 0 145
Integrated Genetics/Laboratory Corporation of America 11 9 31 21 57 0 0 129
PreventionGenetics, PreventionGenetics 0 0 21 49 47 0 0 116
Mendelics 31 8 46 15 6 0 0 106
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 71 17 4 0 0 0 0 92
CeGaT Praxis fuer Humangenetik Tuebingen 38 15 23 7 0 0 0 83
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 1 19 20 33 0 0 80
UniProtKB/Swiss-Prot 0 0 0 0 0 0 73 73
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 50 0 6 1 0 0 0 57
Centre for Mendelian Genomics,University Medical Centre Ljubljana 31 10 12 0 2 0 0 55
Athena Diagnostics Inc 27 2 10 1 8 0 0 48
OMIM 45 0 0 0 0 0 0 45
Fulgent Genetics,Fulgent Genetics 16 1 22 0 0 0 0 39
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 37 1 1 0 0 0 0 39
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 25 0 0 25
Baylor Genetics 6 3 12 0 0 0 0 21
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 15 2 0 0 0 0 0 17
ITMI 0 0 0 0 0 0 16 16
Institute of Human Genetics, University of Leipzig Medical Center 10 4 2 0 0 0 0 16
Genetic Services Laboratory, University of Chicago 1 0 2 6 5 0 0 14
GeneKor MSA 1 0 13 0 0 0 0 14
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 1 13 0 0 0 0 14
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 11 0 2 0 0 13
Division of Human Genetics,Medical University Innsbruck 12 0 0 0 0 0 0 12
Center of Genomic medicine, Geneva,University Hospital of Geneva 9 1 1 0 0 0 0 11
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 4 2 3 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 7 0 0 0 0 0 10
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 3 1 6 0 0 0 0 10
Gharavi Laboratory,Columbia University 1 1 8 0 0 0 0 10
Blueprint Genetics 3 4 2 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 8 1 0 0 0 0 0 9
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 3 0 0 0 0 0 9
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 8 0 0 0 0 0 0 8
Medical Molecular Genetics Department, National Research Center 6 1 0 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 3 0 0 0 0 6
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 5 1 0 0 0 0 0 6
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University 6 0 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 3 1 1 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 4 0 1 0 0 0 0 5
Yale Center for Mendelian Genomics,Yale University 0 5 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Johns Hopkins Genomics, Johns Hopkins University 1 0 3 1 0 0 0 5
Academic Department of Medical Genetics, University of Cambridge 1 3 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 0 0 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 2 0 2 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 2 2 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 0 3
Department of Research and Development,Institute Hermes Pardini 3 0 0 0 0 0 0 3
Swedish Neurofibromatosis Center,Swedish Medical Center 2 1 0 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 1 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 2 2
Molecular Oncology Initiative,University of California, San Francisco 2 0 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
ISCA site 1 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
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Carson lab,Ohio State University Comprehensive Cancer Center 1 0 0 0 0 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 0 0 1
Fan Lab,Zhengzhou University 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Liping Wei Laboratory,Peking University 0 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 1 0 0 0 0 0 0 1
Institute of Neuropathology,University Medical Center Hamburg-Eppendorf 0 0 0 0 0 1 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Hongqi Zhang Laboratory,Xiangya Hospital, Central South University 0 1 0 0 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 0 1 0 0 0 0 0 1

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