FBN2 Chromosome 5
Fibrillin 2
Upload your DNA to see your personal genotypes for variants in FBN2.
What This Gene Does
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fibrillin family
Locus Type
gene with protein product
Location
5q23.3
Ensembl
ENSG00000138829
Associated Conditions (28)
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Connective tissue disorder
Ehlers-Danlos syndrome
FBN2-related disorder
Macular degeneration
early-onset
Cardiovascular phenotype
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Craniosynostosis syndrome
See cases
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections
Congenital heart disease
Malignant tumor of esophagus
+8 more conditions
Key Variants
RS1016100479
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
Health Risk
RS1029299660
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1039821634
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Health Risk
RS1057519321
Conflicting classifications of pathogenicity
Marfan syndrome, Congenital contractural arachnodactyly, Marfan syndrome
Health Risk
RS1057521162
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Health Risk
RS1060503502
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
Health Risk
RS1085307788
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Health Risk
RS1131691293
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Health Risk
RS1160619189
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS116413101
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1176811808
Conflicting classifications of pathogenicity
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
Health Risk
RS1179452976
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
Health Risk
All Variants (493)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS888064842 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly |
| RS888075207 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS913201162 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS922751471 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly |
| RS931046977 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS971727405 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS995323393 | Health Risk | Conflicting classifications of pathogenicity | Congenital contractural arachnodactyly, Neurodevelopmental abnormality, Familial thoracic aortic aneurysm and aortic dissection |
| RS1057521951 | Health Risk | Likely pathogenic | — |
| RS1060503498 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1060503511 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1085307066 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852825 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852828 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS138303817 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1479056828 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554122802 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554122858 | Health Risk | Likely pathogenic | — |
| RS1554122896 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly |
| RS1554122897 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1554123064 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554123136 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, FBN2-related disorder, Congenital contractural arachnodactyly |
| RS1581222106 | Health Risk | Likely pathogenic | Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability |
| RS1581222180 | Health Risk | Likely pathogenic | — |
| RS1581226080 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1750667332 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS1750790929 | Health Risk | Likely pathogenic | Macular degeneration, early-onset, Macular degeneration |
| RS1750891403 | Health Risk | Likely pathogenic | Macular degeneration, early-onset, Macular degeneration |
| RS2126833724 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2126854515 | Health Risk | Likely pathogenic | — |
| RS2126888942 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly |
| RS2126960067 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2126978741 | Health Risk | Likely pathogenic | — |
| RS2479287232 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479632082 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479684419 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479717329 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479786404 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479791649 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479791800 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479792118 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479797387 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479800482 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479801847 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479801974 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479803228 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2479809390 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479809519 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479809648 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479809749 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS2479828044 | Health Risk | Likely pathogenic | Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |