ClinVar Miner

Variants in gene FGFR1

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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 risk factor total
50 41 73 52 17 18 225

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Osteoglophonic dysplasia 4 1 31 36 5 0 77
Craniosynostosis 0 0 31 37 5 0 73
Hypogonadism with anosmia 1 0 31 36 5 0 73
Pfeiffer syndrome 1 0 31 36 5 0 73
Nonsyndromic Trigonocephaly 0 0 31 36 5 0 72
not provided 14 12 34 1 5 0 66
Kallmann syndrome 2; Pfeiffer syndrome 3 2 7 5 8 0 25
Kallmann syndrome 2 10 4 1 1 0 6 22
Hartsfield syndrome 13 2 1 0 2 0 16
not specified 0 0 2 9 6 0 15
Hypogonadotropic hypogonadism 2 with anosmia 2 0 0 0 0 12 14
Hypogonadotropic hypogonadism 7 with or without anosmia 0 8 0 0 0 0 8
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
Kallmann syndrome 2; 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
Encephalocraniocutaneous lipomatosis 2 2 0 0 0 0 2
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
Lymphoblastic leukemia, acute, with lymphomatous features 0 2 0 0 0 0 2
Neoplasm 0 2 0 0 0 0 2
Transitional cell carcinoma of the bladder 0 2 0 0 0 0 2
Craniosynostosis, nonspecific 0 0 0 1 0 0 1
Hartsfield syndrome; Cerebellar vermis hypoplasia 1 0 0 0 0 0 1
Jackson-Weiss syndrome 1 0 0 0 0 0 1
Lobar holoprosencephaly 0 1 0 0 0 0 1
Rosette-forming glioneuronal tumor 1 0 0 0 0 0 1
Semilobar holoprosencephaly 0 1 0 0 0 0 1
Trigonocephaly 1 1 0 0 0 0 0 1
microform holoprosencephaly 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 31 37 5 0 73
GeneDx 10 11 15 7 2 0 45
OMIM 16 0 0 0 0 18 34
Invitae 3 2 7 5 8 0 25
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 11 0 5 0 17
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 3 0 7
GeneReviews 7 0 0 0 0 0 7
Database of Curated Mutations (DoCM) 0 7 0 0 0 0 7
Laboratory of Molecular Genetics,CHU RENNES 0 6 0 0 0 0 6
Athena Diagnostics Inc 2 0 1 0 2 0 5
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
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 0 2
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
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 1
PreventionGenetics 0 0 0 0 1 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
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

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