ClinVar Miner

Variants in gene FBN1

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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 not provided total
1278 1136 1648 874 212 9 4496

Condition and significance breakdown #

Total conditions: 66
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 715 192 629 259 56 0 1851
Marfan syndrome 403 619 372 90 64 4 1455
Familial thoracic aortic aneurysm and aortic dissection 33 52 700 480 88 0 1273
not provided 243 224 312 205 52 1 1003
not specified 22 7 207 261 87 2 547
Cardiovascular phenotype 108 63 117 76 25 0 389
Acromicric dysplasia 5 0 111 39 88 0 243
Stiff skin syndrome 5 0 109 38 88 0 240
Weill-Marchesani syndrome 0 1 108 46 80 0 235
Ectopia lentis, isolated, autosomal dominant 3 0 80 27 87 0 197
Geleophysic dysplasia 0 1 54 45 88 0 188
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 35 68 0 0 0 0 103
Isolated thoracic aortic aneurysm 0 47 17 0 0 0 64
none provided 7 6 12 13 25 0 63
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 13 11 24 0 0 0 48
MASS syndrome 3 1 31 11 0 0 46
Ectopia lentis 0 0 30 11 1 0 42
Marfan lipodystrophy syndrome 13 2 9 0 0 0 24
Connective tissue disease 1 0 4 14 0 0 19
Familial thoracic aortic aneurysm; Acute aortic dissection 0 5 6 2 0 0 13
Inborn genetic diseases 7 1 5 0 0 0 13
Congenital scoliosis 2 0 6 0 0 0 8
Marfan syndrome, neonatal 8 0 0 0 0 0 8
Geleophysic dysplasia 2 5 1 1 0 0 0 7
FBN1-Related Disorders 0 0 2 0 0 1 3
Familial aortopathy 0 2 0 0 0 0 2
Loeys-Dietz syndrome 1 0 1 0 0 0 2
Marfan syndrome, atypical 2 0 0 0 0 0 2
Marfan syndrome, autosomal recessive 2 0 0 0 0 0 2
See cases 1 1 0 0 0 0 2
Weill-Marchesani syndrome 2 1 0 1 0 0 0 2
Abnormality of connective tissue 0 1 0 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 6 0 0 1 0 0 0 1
Aortic dissection 0 0 1 0 0 0 1
Brugada syndrome 1 1 0 0 0 0 0 1
Congenital diaphragmatic hernia 0 1 0 0 0 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate 0 0 1 0 0 0 1
Dilatation 0 0 1 0 0 0 1
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm 1 0 0 0 0 0 1
FNB1 POLYMORPHISM 0 0 0 0 1 0 1
Heart disease 0 0 1 0 0 0 1
High palate; Arachnodactyly; Lens subluxation; Aortic dissection 1 0 0 0 0 0 1
High palate; Disproportionate tall stature; Mitral valve prolapse; Lumbar scoliosis; Myxomatous mitral valve degeneration 1 0 0 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1
Ischemic stroke, susceptibility to; Arachnodactyly; Aortic root dilatation; Dissecting aortic dilatation; Melanoma; Severe Myopia; Ectopia lentis 1 0 0 0 0 0 1
Marfan syndrome, incomplete 0 0 1 0 0 0 1
Marfan syndrome, mild 1 0 0 0 0 0 1
Marfan syndrome, mild variable 1 0 0 0 0 0 1
Marfan syndrome, severe classic 1 0 0 0 0 0 1
Marfan syndrome; Congenital contractural arachnodactyly 0 1 0 0 0 0 1
Marfan syndrome; Left ventricular diastolic dysfunction 0 1 0 0 0 0 1
Marfan syndrome; MASS syndrome; Weill-Marchesani syndrome; Ectopia lentis; Familial thoracic aortic aneurysm 0 0 0 0 0 1 1
Marfanoid habitus 0 0 1 0 0 0 1
Metaphyseal chondrodysplasia 1 0 0 0 0 0 1
Mitral regurgitation; Aortic dissection; Ectopia lentis 0 1 0 0 0 0 1
Pectus excavatum; Inguinal hernia; Tall stature; Myopia (disease); Joint hypermobility 1 0 0 0 0 0 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection 0 1 0 0 0 0 1
Progressive congenital scoliosis 0 0 1 0 0 0 1
Protrusio acetabuli; Dental crowding; High palate; Tall stature; Mitral regurgitation; Aortic root dilatation; Ectopia lentis 0 1 0 0 0 0 1
Scoliosis; High palate; Pes planus; Myopia (disease); Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta 1 0 0 0 0 0 1
Scoliosis; Pes planus; Myopia (disease); Pectus carinatum; Striae distensae; Mitral valve prolapse; Aortic root dilatation; Pes valgus; Ectopia lentis 1 0 0 0 0 0 1
Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly 0 1 0 0 0 0 1
Striae distensae; Mitral valve prolapse; Pulmonary artery dilatation 0 1 0 0 0 0 1
Tall stature; Myopia (disease); Pectus carinatum; Lens subluxation 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 718 196 629 323 57 0 1920
Color Health, Inc 2 2 514 427 67 0 1012
GeneDx 207 166 156 219 102 0 850
Center for Medical Genetics Ghent,University of Ghent 169 348 172 13 0 0 701
Integrated Genetics/Laboratory Corporation of America 42 111 207 75 37 0 472
Ambry Genetics 115 64 122 78 26 0 405
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 51 85 70 27 28 2 263
Illumina Clinical Services Laboratory,Illumina 0 2 163 103 88 0 241
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 43 24 45 37 46 0 195
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 17 36 57 31 21 0 162
Center for Human Genetics, Inc,Center for Human Genetics, Inc 32 34 27 28 0 0 121
Blueprint Genetics 16 60 24 2 0 0 102
CeGaT Praxis fuer Humangenetik Tuebingen 7 9 48 23 0 0 87
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 0 40 7 17 0 72
OMIM 66 0 1 0 1 0 68
Department of Vascular Biology,Beijing Anzhen Hospital 0 47 17 0 0 0 64
PreventionGenetics, PreventionGenetics 0 0 0 28 28 0 56
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 25 21 2 0 0 0 48
Mendelics 14 12 6 5 5 0 42
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 32 6 3 0 0 0 41
Centre for Mendelian Genomics,University Medical Centre Ljubljana 15 8 9 0 0 0 31
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 12 14 3 1 0 0 30
Fulgent Genetics,Fulgent Genetics 10 3 14 0 0 0 27
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 9 12 0 0 0 27
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 14 9 0 0 0 0 23
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 12 10 0 0 0 0 22
CSER _CC_NCGL, University of Washington 0 0 14 6 1 0 21
Centre for Genomic and Experimental Medicine,University of Edinburgh 9 11 0 0 0 0 20
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 5 3 0 0 0 18
Baylor Genetics 3 2 8 0 0 0 13
University of Washington Center for Mendelian Genomics, University of Washington 0 5 6 2 0 0 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 4 2 6 0 0 0 12
Institute of Human Genetics,Cologne University 3 5 1 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 4 0 0 0 5 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 3 4 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 1 5 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 2 0 0 0 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 1 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Department of Medical Genetics,Gazi University 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 1 1 1 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Institute of Human Genetics,University of Wuerzburg 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 1 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Health in Code S.L. 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 1 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Pediatric Department,The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Center of Clinical Laboratory, Zhongshan Hospital,School of Medicine, Xiamen University 1 0 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Health Biotechnology Lab, Department of Biotechnology,Abdul Wali Khan University Mardan 0 1 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Shen lab, Institute for Cardiovascular Science,Soochow University 0 1 0 0 0 0 1
Division of Clinical Genetics, Department of Laboratory Medicine,University of Debrecen 1 0 0 0 0 0 1

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