ClinVar Miner

Variants in gene FGFR3

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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
52 40 417 448 107 1 48 936

Condition and significance breakdown #

Total conditions: 69
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 35 13 347 410 99 0 0 827
not specified 2 0 18 37 43 0 19 107
FGFR3-related condition 7 0 23 57 1 0 0 88
Inborn genetic diseases 4 0 38 2 0 0 0 44
Hypochondroplasia 17 5 2 3 0 0 9 26
Connective tissue disorder 5 0 9 3 7 0 0 24
Achondroplasia 11 3 4 0 0 0 0 18
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis 5 0 7 5 1 0 0 18
Thanatophoric dysplasia type 1 14 1 2 0 0 0 13 17
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon 5 0 3 0 0 0 0 8
Carcinoma 0 8 0 0 0 0 0 8
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 3 1 2 0 0 0 0 6
Malignant tumor of urinary bladder 6 0 0 0 0 0 0 6
See cases 6 0 0 0 0 0 0 6
Urinary bladder carcinoma 0 6 0 0 0 0 0 6
Squamous cell lung carcinoma 0 2 2 1 0 0 0 5
Craniosynostosis syndrome 2 0 0 2 0 0 0 4
Sarcoma 0 0 0 0 0 0 4 4
Cervical cancer 2 0 1 0 0 0 0 3
Craniosynostosis, nonspecific 0 0 3 0 0 0 0 3
Epidermal nevus 3 0 0 0 0 0 0 3
Muenke syndrome 1 2 1 0 0 0 0 3
Multiple myeloma 3 1 0 0 0 0 0 3
Short stature 2 1 0 0 0 0 0 3
Thanatophoric dysplasia 2 1 0 0 0 0 0 3
Transitional cell carcinoma of the bladder 0 3 0 0 0 0 0 3
Acanthosis nigricans 0 2 0 0 0 0 0 2
Carcinoma of colon 2 0 0 0 0 0 0 2
Crouzon syndrome-acanthosis nigricans syndrome 1 0 1 0 0 0 0 2
FGFR3-related chondrodysplasia 2 0 0 0 0 0 0 2
FGFR3-related disorder 2 0 0 0 0 0 0 2
Levy-Hollister syndrome 2 0 0 0 0 0 0 2
Myeloproliferative disorder 0 2 0 0 0 0 0 2
Neurodevelopmental delay 2 0 0 0 0 0 0 2
Papillary renal cell carcinoma, sporadic 0 2 0 0 0 0 0 2
Seborrheic keratosis 2 0 0 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 0 0 2
Thanatophoric dysplasia, type 2 2 0 0 0 0 0 1 2
46,XY disorder of sex development 0 1 0 0 0 0 0 1
Abnormality of the nervous system 1 0 0 0 0 0 0 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Hypochondroplasia 0 0 0 0 0 0 1 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 1 0 0 0 0 0 0 1
Achondroplasia; Crouzon syndrome-acanthosis nigricans syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Hypochondroplasia 0 0 0 0 0 0 1 1
Achondroplasia; Hypochondroplasia 1 0 0 0 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 0 0 1
Classic Hodgkin lymphoma 0 0 1 0 0 0 0 1
Crouzon syndrome; Seizure; Unilateral renal agenesis; Facial asymmetry; Generalized non-motor (absence) seizure; Coronal craniosynostosis; Infantile axial hypotonia 1 0 0 0 0 0 0 1
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 0 0 1 0 0 0 0 1
FGFR3-Related Disorders 1 0 0 0 0 0 0 1
FGFR3-related disoder 0 0 1 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 0 1
Hamartoma 1 0 0 0 0 0 0 1
Hepatoblastoma 0 1 0 0 0 0 0 1
Lacrimoauriculodentodigital syndrome 2 0 0 1 0 0 0 0 1
Larsen syndrome 1 0 0 0 0 0 0 1
Lung adenocarcinoma 0 1 0 0 0 0 0 1
Neoplasm of ovary 0 0 0 0 0 0 1 1
Neuroblastoma 0 0 0 0 0 1 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 1 0 0 0 0 0 0 1
Saethre-Chotzen syndrome 1 0 0 0 0 0 0 1
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 0 0 1 0 0 0 0 1
Skeletal dysplasia with acanthosis nigricans 1 0 0 0 0 0 0 1
Skeletal dysplasia; Craniosynostosis syndrome; Short stature; Genu varum 1 0 0 0 0 0 0 1
Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped thorax; Femoral bowing; Bowed humerus; Disproportionate short-limb short stature; Lethal short-limbed short stature; Lower limb undergrowth; Upper limb undergrowth 1 0 0 0 0 0 0 1
Spermatocytic seminoma 1 0 0 0 0 0 0 1
Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2 0 0 1 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 30 6 251 344 68 0 0 699
GeneDx 24 4 92 84 63 0 0 267
PreventionGenetics, part of Exact Sciences 7 0 23 72 21 0 0 123
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 11 0 8 13 24 0 0 56
Eurofins Ntd Llc (ga) 8 0 22 4 11 0 0 45
Ambry Genetics 4 0 38 2 0 0 0 44
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 3 0 5 27 7 0 0 42
CeGaT Center for Human Genetics Tuebingen 7 0 14 17 1 0 0 39
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 10 0 2 12 14 0 0 38
OMIM 36 0 1 0 0 0 0 37
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 8 0 3 19 5 0 0 35
Fulgent Genetics, Fulgent Genetics 10 0 10 5 1 0 0 26
Genome Diagnostics Laboratory, The Hospital for Sick Children 5 0 9 3 7 0 0 24
GeneReviews 0 0 0 0 0 0 23 23
Athena Diagnostics Inc 0 0 2 4 15 0 0 21
ITMI 0 0 0 0 0 0 19 19
Revvity Omics, Revvity 9 0 9 0 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 12 2 0 0 0 18
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 5 9 0 0 16
Blueprint Genetics 8 2 4 0 0 0 0 14
Baylor Genetics 11 0 1 0 0 0 0 12
Clinical Genetics and Genomics, Karolinska University Hospital 11 1 0 0 0 0 0 12
Database of Curated Mutations (DoCM) 0 12 0 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 2 0 2 2 4 0 0 10
Mendelics 6 0 0 3 0 0 0 9
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 4 0 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 4 1 3 0 0 0 0 8
3billion 7 1 0 0 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 3 0 4 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 6 0 1 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 3 0 0 2 2 0 0 7
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 7 0 0 0 0 0 0 7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 5 0 0 0 0 0 0 5
MGZ Medical Genetics Center 3 2 0 0 0 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 5 0 0 5
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 5 5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 2 0 0 0 0 4
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 1 2 1 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 0 1 0 0 0 0 4
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 1 0 0 0 0 0 4
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 4 0 0 0 0 0 0 4
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 4 0 0 0 0 0 0 4
Laboratory of Urology, Hospital Clinic de Barcelona 4 0 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 0 3
Centogene AG - the Rare Disease Company 2 1 0 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 0 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 0 0 1 0 0 3
Suma Genomics 3 0 0 0 0 0 0 3
DASA 3 0 0 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 2 0 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 1 0 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 0 0 0 0 0 1
Pathology Department, Puerta del Mar University Hospital 0 0 1 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 1 0 0 0 0 0 1

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