Gene entry
FBN2
fibrillin 2
- Chromosome
- 5
- Cytoband
- 5q23.3
- Variants (rsID)
- 82
FBN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q23.3). Its official name is “fibrillin 2”. The reference table lists 82 variants (rsID) for this gene.
Clinically classified variants
40 reference-table entries with clinical significance.
- rs112428886Benignsingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs113589974Benignsingle nucleotide variantCongenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs117524265Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder|Ehlers-Danlos syndrome
- rs139052603Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs145259927Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Brain aneurysm|Connective tissue disorder|Ehlers-Danlos syndrome
- rs1801167Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs2279582Benignsingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs2291628Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly
- rs28763926Benignsingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs371715068Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder
- rs62390671Benignsingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder|Ehlers-Danlos syndrome
- rs116413101Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder
- rs139686090Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs145353444Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs147102633Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs149071226Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype
- rs149733159Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly
- rs199665922Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder
- rs199937209Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Connective tissue disorder
- rs200837433Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Ehlers-Danlos syndrome
- rs202050092Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs2307109Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Congenital contractural arachnodactyly
- rs35346129Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs370981323Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs371502563Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Ehlers-Danlos syndrome
- rs372872626Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome
- rs375666281Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Congenital contractural arachnodactyly|Macular degeneration, early-onset
- rs377002313Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly
- rs377500777Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly
- rs548605398Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype
- rs555068280Conflicting interpretationsDeletionFamilial thoracic aortic aneurysm and aortic dissection|Congenital contractural arachnodactyly|Cardiovascular phenotype
- rs766004910Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
- rs769211487Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly
- rs774807410Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly
- rs78727187Conflicting interpretationssingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
- rs149054177Likely benignsingle nucleotide variantMacular degeneration, early-onset|Congenital contractural arachnodactyly
- rs200345491Likely benignsingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype
- rs28763925Likely benignsingle nucleotide variantCongenital contractural arachnodactyly|Cardiovascular phenotype
- rs200060005Uncertain significancesingle nucleotide variantMacular degeneration, early-onset|Cardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder
- rs200440156Uncertain significancesingle nucleotide variantCongenital contractural arachnodactyly
Other listed variants
- rs27855
- rs32215
- rs331068
- rs331087
- rs331089
- rs427025
- rs468026
- rs469722
- rs1848501
- rs2043536
- rs3805651
- rs3805652
- rs6864057
- rs10038028
- rs10057405
- rs10519994
- rs11746935
- rs11960575
- rs12523609
- rs13155917
- rs17164094
- rs17697567
- rs35020694
- rs56090677
- rs76835745
- rs77024256
- rs77477710
- rs77888452
- rs77998855
- rs79228545
- rs114578761
- rs115332630
- rs115852348
- rs116024325
- rs116079955
- rs116334464
- rs143042178
- rs145588052
- rs145809527
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.