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
66 56 99 74 70 1 10 297

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Crouzon syndrome 28 4 44 15 42 0 0 130
Beare-Stevenson cutis gyrata syndrome 3 0 44 12 43 0 0 102
Craniosynostosis 1 0 45 13 41 0 0 100
Saethre-Chotzen syndrome 1 0 47 15 37 0 0 100
Isolated coronal synostosis 0 0 59 28 12 0 0 99
not provided 16 4 16 24 27 0 0 84
FGFR2 related craniosynostosis 30 6 16 3 16 0 0 71
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
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
Adenocarcinoma of stomach 0 4 0 0 0 0 0 4
Inborn genetic diseases 2 1 1 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
Neoplasm of the breast 0 4 0 0 0 0 0 4
Squamous cell lung carcinoma 0 2 2 0 0 0 0 4
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 3 0 0 0 0 0 0 3
Carcinoma of esophagus 0 3 0 0 0 0 0 3
Craniosynostosis syndrome 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
Autistic disorder of childhood onset; Seizures; Absent speech; Postnatal microcephaly; Intellectual disability, severe 0 0 1 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
Head and Neck Neoplasms 0 1 0 0 0 0 0 1
Hypertelorism; Atrial septal defect; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Wide nasal bridge; Absent toenail; Absent fingernail; Acrobrachycephaly; Hypointensity of cerebral white matter on MRI; Osseous finger syndactyly; Cutaneous finger syndactyly; Cutaneous syndactyly of toes; Osseous syndactyly of toes; Midface retrusion 1 0 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
Hypertelorism; Short stature; Bilateral cryptorchidism; Clinodactyly of the 5th finger; Short neck; Low-set, posteriorly rotated ears; Prominent nasal bridge; Aortic valve stenosis; Decreased body weight; Equinovarus deformity; Camptodactyly of finger; Clinodactyly of the 2nd finger 0 0 1 0 0 0 0 1
Neoplasm of stomach 1 0 0 0 0 0 0 1
Obstructive sleep apnea syndrome; Limitation of neck motion 0 1 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
Skeletal disorder 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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 59 38 43 0 0 99
Invitae 30 6 16 18 21 0 0 91
GeneDx 11 3 4 15 24 0 0 57
OMIM 42 0 1 0 0 0 0 43
Division of Genomic Diagnostics,The 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
PreventionGenetics,PreventionGenetics 0 0 0 4 7 0 0 11
ITMI 0 0 0 0 0 0 10 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 8 0 0 9
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 4 0 1 1 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 2 0 0 0 0 5
Ambry Genetics 2 1 1 0 0 0 0 4
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
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
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
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 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
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

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