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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
FBN2
(H2694Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+4 more
GConflicting classifications of pathogenicity
FBN2
(A2328S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+6 more
GConflicting classifications of pathogenicity
FBN2
(V2149G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
Deletion
(intron variant)
not specified
+1 more
GBenign
FBN2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
FBN2
(C1384Y)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(H1381N)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
+2 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
(R1237H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FBN2, LOC126807501
(E1049K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
FBN2
(G754S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+7 more
GBenign/Likely benign
FBN2
(R695H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN2
(S638T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
FBN2
(G439E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
+2 more
GConflicting classifications of pathogenicity
FBN2
(R347H)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
(P326S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
(I243T)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign
FBN2
(T173I)
Single nucleotide variant
(missense variant)
FBN2-related condition
+6 more
GConflicting classifications of pathogenicity
FBN2
(A68V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
FBN2
(P37Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN2
(T26A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
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