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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(K2848R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FBN1
(E2742K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
(Q2683*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+2 more
GPathogenic
FBN1
(Y2639C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(R2576C)
Single nucleotide variant
(missense variant)
Isolated thoracic aortic aneurysm
+5 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN1
(E2447K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(D2421N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(G2367R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(E2330K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GUncertain significance
FBN1
(C2274R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(N2267T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(D2249fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(Y2236H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(N2208S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
(E1933K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(D1898Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(G1838D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FBN1
(C1793R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
(C1733R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FBN1
(V1524I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
FBN1
(C1470Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
LOC126862124, FBN1
(P1424A)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+12 more
GConflicting classifications of pathogenicity
FBN1
(R1388fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FBN1
(F1269fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FBN1
(C1236Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(Y1136*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FBN1
(G1127D)
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)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1
(C1097Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C1055*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
FBN1
(I1048V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(T1020A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely benign
FBN1
(V984I)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia
+7 more
GConflicting classifications of pathogenicity
FBN1
(G880S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(E831V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(D807V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(Q697R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(E694D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(G560D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(Q520H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(G509V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN1
(G422E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1, LOC113939944
(M376I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(D288N +1 more)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(C286fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
FBN1
(N156S)
Single nucleotide variant
(missense variant)
Progeroid and marfanoid aspect-lipodystrophy syndrome
+10 more
GConflicting classifications of pathogenicity
FBN1
(C134*)
Duplication
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FBN1
(R96T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GConflicting classifications of pathogenicity
FBN1
(R62C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GPathogenic
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