U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 323

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(I2866N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
(M2864K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
(Y2837C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(D2801A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related disorder
+4 more
GBenign/Likely benign
FBN1
(R2792fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(T2788M)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(L2780H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(N2767S)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
FBN1
(N2767D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(N2740S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FBN1
(R2730W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
(K2729Q)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
(G2727S)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
FBN1
(R2726W)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
(G2703S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(G2691S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+7 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
FBN1
(R2680H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(R2680C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(Y2639C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
(G2618R)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice acceptor variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(W2602*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(Q2598*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+11 more
GPathogenic/Likely pathogenic
FBN1
(C2571R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
FBN1
(G2562S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(D2559V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(C2552R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(C2550S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(G2536R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GPathogenic/Likely pathogenic
FBN1
(C2528R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Acromicric dysplasia
+8 more
GConflicting classifications of pathogenicity
FBN1
(C2511Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(G2506S)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+6 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+8 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(Q2477R)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(I2475M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(C2470W)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(N2449S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN1
(C2442Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
FBN1
(Y2433*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(R2414*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
FBN1
(D2411N)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GBenign/Likely benign
FBN1
(V2358I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Deletion
(frameshift variant)
Marfan syndrome
+4 more
GPathogenic
FBN1
(D2329E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+12 more
GBenign/Likely benign
FBN1
(A2324T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN1
(N2304S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(T2297M)
Single nucleotide variant
(missense variant)
Marfan syndrome
+11 more
GConflicting classifications of pathogenicity
FBN1
(Q2296H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related disorder
+4 more
GBenign/Likely benign
FBN1
(P2278A)
Single nucleotide variant
(missense variant)
Marfan syndrome
+4 more
GConflicting classifications of pathogenicity
FBN1
(P2278S)
Single nucleotide variant
(missense variant)
not provided
+9 more
GBenign/Likely benign
FBN1
(Y2272C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
FBN1
(C2251R)
Single nucleotide variant
(missense variant)
Isolated thoracic aortic aneurysm
+2 more
GPathogenic/Likely pathogenic
FBN1
Deletion
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
FBN1
(V2234M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(C2221F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(N2208S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
(M2201V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GBenign/Likely benign
FBN1
(F2196V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
(E2193K)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+7 more
GConflicting classifications of pathogenicity
FBN1
(N2178K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(R2150C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(G2147D)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(N2144S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(E2130K)
Single nucleotide variant
(missense variant)
FBN1-related disorder
+11 more
GPathogenic/Likely pathogenic
FBN1
(D2127V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(I2117fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(V2119M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
(C2111R)
Single nucleotide variant
(missense variant)
Isolated thoracic aortic aneurysm
+1 more
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
(T2101M)
Single nucleotide variant
(missense variant)
FBN1-related disorder
+5 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
FBN1
(C2083S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(K2074fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(Y2062F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(R2057*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
FBN1
(C2038Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic
FBN1
(G2027R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(A2025S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
FBN1
(C2017R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GPathogenic/Likely pathogenic
FBN1
(C1989fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination