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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+11 more
GPathogenic/Likely pathogenic
FBN1
(C2565Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C2528R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
FBN1
(E2205fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(D2129G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(R1969fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(R1832H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(G1594fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(F1346V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(G1313S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
(D1238N)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
FBN1
(E1200V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C1111Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(Y1004*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C853R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C748R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+2 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely pathogenic
FBN1
(T524fs)
Duplication
(frameshift variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
(G325fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(R240C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GPathogenic/Likely pathogenic
FBN1
(G214S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic/Likely pathogenic
FBN1
(C102R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
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