ClinVar Miner

Variants in gene FGFR1

See also:
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 risk factor total
59 57 165 81 59 18 374

Condition and significance breakdown #

Total conditions: 38
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hypogonadotropic hypogonadism 2 with or without anosmia 15 14 93 21 26 6 175
Osteoglophonic dysplasia 4 2 78 11 49 0 144
Craniosynostosis syndrome 0 0 81 19 39 0 139
Trigonocephaly 1 1 0 78 12 47 0 138
not provided 15 15 36 29 9 0 101
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 6 3 29 26 13 0 77
Hartsfield syndrome 13 2 3 0 2 0 18
not specified 0 0 4 9 7 0 18
Hypogonadotropic hypogonadism 2 with anosmia 2 0 0 0 0 12 14
none provided 0 1 0 2 7 0 10
Hypogonadotropic hypogonadism 7 with or without anosmia 0 8 0 0 0 0 8
Encephalocraniocutaneous lipomatosis 3 2 4 0 0 0 7
Delayed puberty 0 6 0 0 0 0 6
Astrocytoma 0 5 0 0 0 0 5
Medulloblastoma 0 5 0 0 0 0 5
Adenocarcinoma of stomach 0 3 0 0 0 0 3
Brainstem glioma 0 3 0 0 0 0 3
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 0 1 2 0 0 0 3
Neuroblastoma 0 3 0 0 0 0 3
Glioblastoma 0 2 0 0 0 0 2
Hepatocellular carcinoma 0 2 0 0 0 0 2
Holoprosencephaly sequence 1 1 0 0 0 0 2
Hypogonadism with anosmia 1 0 0 1 0 0 2
Jackson-Weiss syndrome 1 0 1 0 0 0 2
Lymphoblastic leukemia, acute, with lymphomatous features 0 2 0 0 0 0 2
Neoplasm 0 2 0 0 0 0 2
Pfeiffer syndrome 1 0 0 1 0 0 2
Transitional cell carcinoma of the bladder 0 2 0 0 0 0 2
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Craniosynostosis, nonspecific 0 0 0 1 0 0 1
Hartsfield syndrome; Cerebellar vermis hypoplasia 1 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Infertility 0 0 1 0 0 0 1
Lobar holoprosencephaly 0 1 0 0 0 0 1
Microform holoprosencephaly 0 1 0 0 0 0 1
Nonsyndromic Trigonocephaly 0 0 0 1 0 0 1
Rosette-forming glioneuronal tumor 1 0 0 0 0 0 1
Semilobar holoprosencephaly 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 90 34 49 0 139
Invitae 6 3 29 44 16 0 98
GeneDx 10 13 15 7 2 0 47
OMIM 16 0 0 0 0 18 34
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 3 4 10 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 11 0 5 0 17
Department of Urology, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 10
Athena Diagnostics Inc 2 0 2 0 5 0 9
Chan Lab,Boston Children's Hospital 0 9 0 0 0 0 9
Muenke lab,National Institutes of Health 7 0 0 0 2 0 9
GeneReviews 7 0 0 0 0 0 7
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 6
Laboratory of Molecular Genetics,CHU RENNES 0 6 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 3 0 0 6
Genetic Services Laboratory, University of Chicago 1 1 1 2 0 0 5
Endocrinology Clinic, Seth G.S. Medical College 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 2 0 1 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 3
Genetics Department,Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Department of Endocrinology and Metabolism,The First Affiliated Hospital of Sun Yet-sen University 1 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 1
Cormier-Daire Lab,IMAGINE 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 1
MAGI's Lab - Research,MAGI Group 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.