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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(K2848T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
(R2726W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(C2448Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(E2447K)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GPathogenic/Likely pathogenic
FBN1
(R2414*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
FBN1
(C2230Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GLikely pathogenic
FBN1
(C2111Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1
(Y1962C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C1748fs)
Microsatellite
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(R1596*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+9 more
GPathogenic
FBN1
(G1353R)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
FBN1
(R1170H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(D1155N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GPathogenic/Likely pathogenic
FBN1
(P1036R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R954L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
(S438C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1, LOC113939944
(R332C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
FBN1
(M223I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
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