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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(R2776*)
Single nucleotide variant
(nonsense)
Isolated thoracic aortic aneurysm
+3 more
GPathogenic/Likely pathogenic
FBN1
(C2571Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(G2514R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(D2485G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
FBN1
Deletion
(frameshift variant)
Weill-Marchesani syndrome 2, dominant
+4 more
GPathogenic
FBN1
(R2306H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+4 more
GConflicting classifications of pathogenicity
FBN1
(R2242C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(D2127G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
Deletion
(intron variant)
Marfan syndrome
GLikely pathogenic
FBN1
(I1909T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
FBN1
(C1860fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(R1790*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+2 more
GPathogenic
FBN1
(R1771W)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(R1692del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(C1687F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(C1564fs)
Insertion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(G1185D)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic/Likely pathogenic
FBN1
(C1039R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(G905R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(T631P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(C557R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C89Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
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