ClinVar Miner

Variants in gene FGFR2

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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 drug response not provided total
69 60 111 85 70 1 10 326

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Crouzon syndrome 28 5 44 15 42 0 0 131
Craniosynostosis syndrome 1 3 45 13 41 0 0 103
Beare-Stevenson cutis gyrata syndrome 3 1 44 12 43 0 0 102
Saethre-Chotzen syndrome 1 0 48 15 37 0 0 101
FGFR2 related craniosynostosis 35 9 27 13 16 0 0 100
Isolated coronal synostosis 0 0 59 28 12 0 0 99
not provided 19 4 17 24 27 0 0 88
not specified 0 0 0 17 16 0 10 35
Pfeiffer syndrome 19 4 2 4 0 0 0 28
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 15 0 0 0 0 0 15
none provided 0 0 2 4 7 0 0 13
Acrocephalosyndactyly type I 5 1 3 4 0 0 0 12
Jackson-Weiss syndrome 6 0 2 4 0 0 0 12
Levy-Hollister syndrome 4 2 2 4 0 0 0 12
Endometrial neoplasm 0 10 0 0 0 0 0 10
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome 7 1 1 0 0 0 0 9
Malignant neoplasm of body of uterus 0 8 0 0 0 0 0 8
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 4 1 2 0 0 0 0 7
Inborn genetic diseases 2 3 0 0 0 0 0 5
Adenocarcinoma of stomach 0 4 0 0 0 0 0 4
Breast neoplasm 0 4 0 0 0 0 0 4
Lung adenocarcinoma 0 4 0 0 0 0 0 4
Nasopharyngeal Neoplasms 0 4 0 0 0 0 0 4
Squamous cell lung carcinoma 0 2 2 0 0 0 0 4
Carcinoma of esophagus 0 3 0 0 0 0 0 3
Bent bone dysplasia syndrome 2 0 0 0 0 0 0 2
Craniosynostosis, nonspecific 0 1 1 0 0 0 0 2
Endometrial carcinoma 2 0 0 0 0 0 0 2
Acrocephalosyndactyly 0 1 0 0 0 0 0 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome 0 1 0 0 0 0 0 1
Adenoid cystic carcinoma 0 0 1 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 0 1
Craniofacial-skeletal-dermatologic dysplasia 1 0 0 0 0 0 0 1
Craniosynostosis, nonclassifiable autosomal dominant 1 0 0 0 0 0 0 1
Craniosynostosis, nonsyndromic unicoronal 1 0 0 0 0 0 0 1
Ectrodactyly 0 1 0 0 0 0 0 1
FGFR2-related syndromic and non-syndromic craniosynostoses 1 0 0 0 0 0 0 1
Head and Neck Neoplasms 0 1 0 0 0 0 0 1
Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormality of the pinna; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormality of the posterior cranial fossa; Deviated nasal septum; Dilation of lateral ventricles; Hypointensity of cerebral white matter on MRI; Abnormality of the zygomatic bone; Mild fetal ventriculomegaly 0 1 0 0 0 0 0 1
Neoplasm of stomach 1 0 0 0 0 0 0 1
Pemigatinib resistance 0 0 0 0 0 1 0 1
Pfeiffer syndrome variant 1 0 0 0 0 0 0 1
Pfeiffer syndrome, type III 1 0 0 0 0 0 0 1
Scaphocephaly and axenfeld-rieger anomaly 1 0 0 0 0 0 0 1
Scaphocephaly, maxillary retrusion, and mental retardation 1 0 0 0 0 0 0 1
Uterine Carcinosarcoma 0 1 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 35 9 27 27 21 0 0 119
Illumina Clinical Services Laboratory,Illumina 1 0 59 38 43 0 0 100
GeneDx 11 3 4 15 24 0 0 57
OMIM 42 0 1 0 0 0 0 43
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 31 8 1 0 0 0 0 40
Database of Curated Mutations (DoCM) 0 33 0 0 0 0 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 9 2 7 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 5 9 0 0 16
PreventionGenetics, PreventionGenetics 0 0 0 4 7 0 0 11
ITMI 0 0 0 0 0 0 10 10
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 0 9
Department of Medical Genetics, Oslo University Hospital 6 2 0 0 0 0 0 8
Athena Diagnostics Inc 0 0 1 0 5 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 1 1 0 0 0 6
Ambry Genetics 2 3 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 2 0 0 0 0 5
GeneReviews 4 0 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 2 1 0 0 4
Baylor Genetics 3 0 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 1 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
Gharavi Laboratory,Columbia University 0 1 2 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 1 0 0 0 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 0 0 0 0 0 2
Mendelics 0 1 0 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 0 2
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Dental Genetics Laboratory,Seoul National University School of Dentistry 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory,Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 0 0 0 0 0 1 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 1

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