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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR2
(D522N +10 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SRFBP1, LOX
(W42*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFBR1
(L486S +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+11 more
GPathogenic/Likely pathogenic
FBN1
(C2528R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
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
(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
(Y1004*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
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
(T524fs)
Duplication
(frameshift variant)
Marfan syndrome
+2 more
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
SMAD3
(F143fs +3 more)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(R268H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SMAD3
(V283E +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(E284G +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(Y364C +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GConflicting classifications of pathogenicity
MYH11
(K1263del +1 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
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