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  • The following term was not found in ClinVar: ageratina.
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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2
(G2866S)
Single nucleotide variant
(missense variant)
Macular degeneration, early-onset
+3 more
GConflicting classifications of pathogenicity
FBN2
(T2858M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(N2840K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(I2836V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(Q2826H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(E2820K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(E2760A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(G2715R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(Q2688E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(F2686L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(Q2564E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FBN2
(C2558G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN2
(G2520E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(S2516P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(M2469V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(I2466V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(S2401N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(M2320T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(R2308K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(T2278M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(N2240S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(H2166R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(K2145E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(P2085A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
FBN2
(G2070V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(K2050E)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(D2016H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(R1989C)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(T1966A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(K1949E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(H1920R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(E1898K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN2
(E1898Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(N1894S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(R1893H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
(I1868F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+2 more
GConflicting classifications of pathogenicity
FBN2
(I1809M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(M1761I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(K1759E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(K1759Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN2
(T1716S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(R1688H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FBN2
(V1572F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(V1548I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+3 more
GConflicting classifications of pathogenicity
FBN2
(P1539A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(N1529D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(H1514Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(S1448L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(G1398V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(C1378R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(V1368M)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+3 more
GUncertain significance
FBN2
(P1303T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(T1241A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN2
(P1229S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(P1193S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+2 more
GUncertain significance
FBN2
(H1189Y)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(G1188E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(M1157V)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(S1148G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+2 more
GConflicting classifications of pathogenicity
FBN2
(M1108L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(G1094E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2, LOC126807501
(E1039V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2, LOC126807501
(E1036K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
(I998V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(E960K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(I911V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(R906L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(L900F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(G896E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(P839T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(C795S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(C741Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(P740L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(R717L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(E677K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(G589S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(S515T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN2
(H501P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(Q481H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(V471L)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(N449S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(P434R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(R394H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GUncertain significance
FBN2
(R394C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
FBN2
(T384M)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(S352L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(T271A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(M224I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(Y211D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(G192R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GUncertain significance
FBN2
(H163R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(R152K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
(G135E)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(A68S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN2
(Q31H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(Q24R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(E2846G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(E2846Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN1
(P2835L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN1
(K2821Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
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