ClinVar Miner

Variants in gene FBN1

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Gene type:
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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 not provided total
789 900 958 430 116 3 2811

Condition and significance breakdown #

Total conditions: 52
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Marfan syndrome 340 564 297 108 34 1 1253
not provided 223 181 290 22 26 0 729
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 216 83 266 114 49 0 728
not specified 14 2 142 207 79 2 416
Cardiovascular phenotype 104 54 133 75 23 0 389
Thoracic aortic aneurysm and aortic dissection 24 32 137 144 56 0 363
Acromicric dysplasia 6 0 61 83 18 0 168
Stiff skin syndrome 5 0 61 82 18 0 166
MASS syndrome 3 1 60 82 18 0 163
Geleophysic dysplasia 0 1 60 83 18 0 162
Weill-Marchesani syndrome 0 1 60 82 18 0 161
Ectopia lentis 0 0 60 82 18 0 160
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 26 50 0 0 0 0 76
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 9 21 0 0 0 43
Connective tissue disorder 0 0 4 14 0 0 18
Familial thoracic aortic aneurysm; Acute aortic dissection 0 5 6 2 0 0 13
Inborn genetic diseases 3 2 4 0 0 0 9
Marfan syndrome, neonatal 8 0 0 0 0 0 8
Marfan lipodystrophy syndrome 6 0 1 0 0 0 7
Geleophysic dysplasia 2 5 0 1 0 0 0 6
Ectopia lentis, isolated, autosomal dominant 4 0 1 0 0 0 5
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
Aortic aneurysm, ascending, and dissection 1 0 0 0 0 0 1
Aortic aneurysm, familial thoracic 2 0 0 1 0 0 0 1
Cardiac disease 0 0 1 0 0 0 1
Congenital diaphragmatic hernia 0 1 0 0 0 0 1
Dental crowding; Arachnodactyly; Dolichocephaly; Joint hypermobility; Aortic regurgitation; High, narrow palate 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
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; 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
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; 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
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; Dolichocephaly; Mitral valve prolapse; Dilatation of the ascending aorta 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; Pectus carinatum; Lens subluxation 0 1 0 0 0 0 1
Weill-Marchesani syndrome 2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 264 107 266 114 49 0 800
GeneDx 206 165 156 158 66 0 751
Center for Medical Genetics Ghent,University of Ghent 169 348 172 13 0 0 701
Ambry Genetics 107 56 137 77 24 0 401
Integrated Genetics/Laboratory Corporation of America 33 93 175 19 29 0 349
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 48 83 71 24 27 2 255
Illumina Clinical Services Laboratory,Illumina 0 1 60 85 19 0 165
Color 1 0 46 65 40 0 152
Center for Human Genetics, Inc 32 34 27 28 0 0 121
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 13 21 17 32 0 114
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 9 18 29 18 13 0 87
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 8 0 40 7 17 0 72
OMIM 66 0 1 0 1 0 68
PreventionGenetics 0 0 0 28 28 0 56
Blueprint Genetics, 9 35 9 2 0 0 55
Fulgent Genetics 10 3 14 0 0 0 27
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 14 9 0 0 0 0 23
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 7 9 0 0 0 22
CSER_CC_NCGL; University of Washington Medical Center 0 0 14 6 1 0 21
Centre for Genomic and Experimental Medicine,University of Edinburgh 9 11 0 0 0 0 20
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 6 8 1 0 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 6 2 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 10 2 0 0 14
University of Washington Center for Mendelian Genomics,University of Washington 0 5 6 2 0 0 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 7 2 3 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 4 0 0 0 5 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 3 0 5
Zhou Lab, Center of Laboratory Medicine,Fuwai Hospital 5 0 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 3 0 1 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 2 0 0 0 0 4
Institute of Human Genetics,Cologne University 1 1 1 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 2 1 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 0 2
Health in Code S.L. 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 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
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 1 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
Undiagnosed Diseases Network,NIH 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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

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