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
53 18 95 103 64 1 25 307

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 18 3 40 44 26 0 0 123
Craniosynostosis syndrome 16 0 26 21 31 0 0 94
not specified 1 0 6 42 37 0 19 94
none provided 8 0 2 4 14 0 0 28
Hypochondroplasia 22 1 3 3 0 0 0 27
Thanatophoric dysplasia type 1 15 0 2 0 0 0 0 16
Achondroplasia 9 0 3 0 0 0 0 11
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cancer of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Urinary bladder cancer; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 6 0 3 0 0 0 0 9
Carcinoma 0 8 0 0 0 0 0 8
Inborn genetic diseases 4 0 3 0 0 0 0 7
Bladder carcinoma 0 6 0 0 0 0 0 6
Squamous cell lung carcinoma 0 2 2 1 0 0 0 5
Sarcoma 0 0 0 0 0 0 4 4
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 2 1 0 0 0 0 0 3
Cancer of cervix 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
Multiple myeloma 3 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 with acanthosis nigricans 1 0 1 0 0 0 0 2
Levy-Hollister syndrome 2 0 0 0 0 0 0 2
Muenke syndrome 1 1 1 0 0 0 0 2
Myeloproliferative disorder 0 2 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
Short stature 2 0 0 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 2 0 0 0 0 0 2
Urinary bladder cancer 2 0 0 0 0 0 0 2
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Hypochondroplasia 0 0 0 0 0 0 1 1
Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia with developmental delay and acanthosis nigricans 1 0 0 0 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 0 1
Crouzon syndrome; Seizures; Unilateral renal agenesis; Facial asymmetry; Absence seizures; Coronal craniosynostosis; Infantile axial hypotonia 1 0 0 0 0 0 0 1
FGFR3-related disorder 1 0 0 0 0 0 0 1
Global developmental delay 0 0 1 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
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
Thanatophoric dysplasia, type 2 1 0 0 0 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 16 0 26 55 37 0 0 134
GeneDx 13 2 8 19 36 0 0 78
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 0 22 4 11 0 0 45
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 10 0 5 6 21 0 0 42
OMIM 36 0 1 0 0 0 0 37
PreventionGenetics, PreventionGenetics 0 0 0 15 20 0 0 35
GeneReviews 32 0 0 0 0 0 0 32
Athena Diagnostics Inc 0 0 2 4 14 0 0 20
ITMI 0 0 0 0 0 0 19 19
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 7 2 0 0 0 15
Baylor Genetics 11 0 1 0 0 0 0 12
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 11 1 0 0 0 0 0 12
Database of Curated Mutations (DoCM) 0 12 0 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 6 0 3 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 2 0 2 2 1 0 0 7
Ambry Genetics 4 0 3 0 0 0 0 7
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
Mendelics 2 0 1 3 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 5 0 0 0 0 0 0 5
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 0 4
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 1 2 1 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 0 0 0 0 0 0 3
Department of Medical Genetics, Oslo University Hospital 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, Oman 0 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 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 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 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
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 1 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 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
Breda Genetics srl 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 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
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

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