ClinVar Miner

Variants in gene FGFR1

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Minimum submission review status: Collection method:
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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 other not provided total
128 113 420 340 82 18 1 10 956

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 31 16 180 241 34 0 0 0 502
not provided 24 26 142 99 35 0 0 0 311
Hypogonadotropic hypogonadism 2 with or without anosmia 68 52 121 18 14 6 0 0 267
Osteoglophonic dysplasia 3 3 45 9 33 0 0 0 93
Trigonocephaly 1 1 0 44 11 31 0 0 0 87
Craniosynostosis syndrome 0 0 46 16 24 0 0 0 86
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 1 5 40 26 2 0 0 0 74
FGFR1-related condition 1 4 14 31 1 0 0 0 51
not specified 0 0 14 9 11 0 0 0 31
Hartsfield-Bixler-Demyer syndrome 11 6 5 0 2 0 0 7 25
Hypogonadotropic hypogonadism 2 with anosmia 2 0 0 0 0 12 0 0 14
Inborn genetic diseases 0 0 8 4 0 0 0 0 12
Hypogonadotropic hypogonadism 7 with or without anosmia 0 8 0 0 0 0 0 0 8
Encephalocraniocutaneous lipomatosis 3 2 4 0 0 0 0 2 7
Astrocytoma 0 5 1 0 0 0 0 0 6
Delayed puberty 0 6 0 0 0 0 0 0 6
Medulloblastoma 0 5 0 0 0 0 0 0 5
Pfeiffer syndrome 1 0 3 0 0 0 0 0 4
Brainstem glioma 0 3 0 0 0 0 0 0 3
Gastric adenocarcinoma 0 3 0 0 0 0 0 0 3
Hypogonadotropic hypogonadism 1 0 2 0 0 0 0 0 3
Neuroblastoma 0 3 0 0 0 0 0 0 3
FGFR1-Related Disorders 1 1 0 0 0 0 0 0 2
Glioblastoma 0 2 0 0 0 0 0 0 2
Hepatocellular carcinoma 0 2 0 0 0 0 0 0 2
Holoprosencephaly sequence 1 1 0 0 0 0 0 0 2
Jackson-Weiss syndrome 1 0 1 0 0 0 0 0 2
Lymphoblastic leukemia, acute, with lymphomatous features 0 2 0 0 0 0 0 0 2
Neoplasm 0 2 0 0 0 0 0 0 2
Pilomyxoid astrocytoma 0 0 2 0 0 0 0 0 2
Transitional cell carcinoma of the bladder 0 2 0 0 0 0 0 0 2
Amenorrhea 0 0 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 0 0 1
Craniosynostosis, nonspecific 0 0 0 1 0 0 0 0 1
FGFR1-related craniosynostosis syndrome 0 0 1 0 0 0 0 0 1
FGFR1-related disorder 0 0 1 0 0 0 0 0 1
Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia 1 0 0 0 0 0 0 0 1
Hypergonadotropic hypogonadism 0 0 1 0 0 0 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia 0 0 0 0 0 0 0 1 1
Infertility disorder 0 0 1 0 0 0 0 0 1
Lobar holoprosencephaly 0 1 0 0 0 0 0 0 1
Martsolf syndrome 1 0 0 1 0 0 0 0 0 1
Mendelian syndromes with cleft lip/palate 0 0 1 0 0 0 0 0 1
Microform holoprosencephaly 0 1 0 0 0 0 0 0 1
Pfeiffer syndrome type 1 0 0 1 0 0 0 0 0 1
Rosette-forming glioneuronal tumor 1 0 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 0 1
Semilobar holoprosencephaly 0 1 0 0 0 0 0 0 1
spinal cord mass 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 31 16 180 244 34 0 0 0 505
GeneDx 17 18 103 58 25 0 0 0 221
Reproductive Endocrine Unit, Massachusetts General Hospital 53 34 55 1 0 0 0 0 143
Illumina Laboratory Services, Illumina 0 0 56 28 33 0 0 0 88
Fulgent Genetics, Fulgent Genetics 1 5 39 26 2 0 0 0 73
CeGaT Center for Human Genetics Tuebingen 2 3 13 38 10 0 0 0 66
PreventionGenetics, part of Exact Sciences 1 4 14 31 2 0 0 0 52
OMIM 15 0 0 0 0 18 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 7 10 0 0 0 22
Eurofins Ntd Llc (ga) 0 1 11 0 5 0 0 0 17
Ambry Genetics 0 0 8 4 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 9 1 0 0 0 0 12
Athena Diagnostics Inc 2 0 3 0 6 0 0 0 11
Genetic Services Laboratory, University of Chicago 2 2 3 3 0 0 0 0 10
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 7 0 0 0 0 0 0 10
Baylor Genetics 2 1 6 0 0 0 0 0 9
GeneReviews 0 0 0 0 0 0 0 9 9
Chan Lab, Boston Children's Hospital 0 9 0 0 0 0 0 0 9
Muenke lab, National Institutes of Health 7 0 0 0 2 0 0 0 9
Clinical Genetics, Academic Medical Center 0 0 1 0 7 0 0 0 8
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 0 0 7
Laboratory of Molecular Genetics, CHU Rennes 0 6 0 0 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 2 3 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 4 0 0 0 0 6
3billion 0 3 3 0 0 0 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 0 2 3 0 0 0 0 0 5
Centogene AG - the Rare Disease Company 0 1 3 0 0 0 0 0 4
Endocrinology Clinic, Seth G.S. Medical College 4 0 0 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 0 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 2 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 3 0 0 0 0 0 4
Genomics England Pilot Project, Genomics England 3 1 0 0 0 0 0 0 4
Department of Surgery, The First Affiliated Hospital of Zhengzhou University 1 1 2 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 2 1 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 0 3
Mendelics 0 1 0 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 0 0 1 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 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 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 1 0 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Cormier-Daire Lab, IMAGINE 0 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 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 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 0 1
MAGI's Lab - Research, MAGI Group 0 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 0 1 0 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 0 0 1
Faculty of Pharmacy, University of Ljubljana 0 0 1 0 0 0 0 0 1

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