ClinVar Miner

Variants in gene FGFR2

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
62 51 53 52 36 1 10 237

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Crouzon syndrome 25 3 22 30 12 0 0 91
Pfeiffer syndrome 19 4 22 30 10 0 0 84
Jackson-Weiss syndrome 6 0 22 30 10 0 0 68
Acrocephalosyndactyly type I 5 1 22 30 10 0 0 67
Levy-Hollister syndrome 3 2 22 30 10 0 0 67
Cutis Gyrata syndrome of Beare and Stevenson 3 0 22 30 10 0 0 65
Craniosynostosis 1 0 22 30 10 0 0 63
Saethre-Chotzen syndrome 1 0 22 30 10 0 0 63
Isolated coronal synostosis 0 0 22 30 10 0 0 62
not provided 14 4 15 9 19 0 0 60
FGFR2 related craniosynostosis 25 4 12 1 10 0 0 52
not specified 0 0 0 17 14 0 10 34
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 15 0 0 0 0 0 15
Endometrial neoplasm 0 10 0 0 0 0 0 10
Acrocephalosyndactyly type I; Cutis Gyrata syndrome of Beare and Stevenson; 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
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
Squamous cell lung carcinoma 0 2 0 0 0 0 0 2
Acrocephalosyndactyly 0 1 0 0 0 0 0 1
Adenoid cystic carcinoma 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
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: 33
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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 22 30 11 0 0 63
GeneDx 11 3 4 15 24 0 0 57
Invitae 25 4 12 1 10 0 0 52
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 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
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 2 0 0 3
Gharavi Laboratory,Columbia University 0 1 2 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
Center for Human Genetics, Inc 0 2 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
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
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 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

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