ClinVar Miner

Variants in gene FGFR1

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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 other not provided total
145 125 528 402 84 18 1 10 1126

Condition and significance breakdown #

Total conditions: 37
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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 41 17 217 282 35 0 0 0 592
not provided 27 32 186 115 38 0 0 0 378
Hypogonadotropic hypogonadism 2 with or without anosmia 73 54 127 18 14 6 0 0 280
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2 8 91 35 3 0 0 0 139
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
FGFR1-related disorder 7 7 21 36 1 0 0 0 72
not specified 0 0 23 15 11 0 0 0 46
Hartsfield-Bixler-Demyer syndrome 11 9 7 0 2 0 0 7 30
Inborn genetic diseases 0 0 17 8 0 0 0 0 25
Hypogonadotropic hypogonadism 2 with anosmia 2 0 0 0 0 12 0 0 14
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
Pfeiffer syndrome 1 2 4 0 0 0 0 0 7
Delayed puberty 0 6 0 0 0 0 0 0 6
Hypogonadotropic hypogonadism 3 1 1 0 0 0 0 0 5
See cases 1 0 4 0 0 0 0 0 5
Jackson-Weiss syndrome 1 0 2 0 0 0 0 0 3
Holoprosencephaly sequence 1 1 0 0 0 0 0 0 2
Pilomyxoid astrocytoma 0 0 2 0 0 0 0 0 2
Amenorrhea 0 0 1 0 0 0 0 0 1
Astrocytoma 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
Hartsfield-Bixler-Demyer syndrome; Cerebellar vermis hypoplasia 1 0 0 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
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: 102
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 41 17 217 285 35 0 0 0 595
GeneDx 20 21 143 59 25 0 0 0 268
Reproductive Endocrine Unit, Massachusetts General Hospital 53 34 55 1 0 0 0 0 143
Fulgent Genetics, Fulgent Genetics 2 7 87 35 3 0 0 0 134
Illumina Laboratory Services, Illumina 0 0 56 28 33 0 0 0 88
CeGaT Center for Human Genetics Tuebingen 2 5 15 52 8 0 0 0 82
PreventionGenetics, part of Exact Sciences 4 6 20 36 2 0 0 0 68
OMIM 15 0 0 0 0 18 0 0 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 18 8 0 0 0 0 30
Breakthrough Genomics, Breakthrough Genomics 0 2 2 17 8 0 0 0 29
Ambry Genetics 0 0 17 8 0 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 4 7 11 0 0 0 23
Eurofins Ntd Llc (ga) 0 1 11 0 5 0 0 0 17
Athena Diagnostics 2 1 3 0 6 0 0 0 12
3billion 1 5 6 0 0 0 0 0 12
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 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
Revvity Omics, Revvity 0 0 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 0 2 3 0 0 0 0 0 5
NHS Central & South Genomic Laboratory Hub 3 1 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 3 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 3 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 0 0 2
Mendelics 0 1 0 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 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 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 0 0 1 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 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
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Hunter Genetics General Clinical Genetics Service, Hunter Genetics 0 1 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
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 Centre For Genomic Medicine, NCGM 1 0 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
Institute of Immunology and Genetics Kaiserslautern 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
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 0 0 0 0 1

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