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Items: 1 to 100 of 1422

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GLikely benign
FBN1
(L2870F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(L2869S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(V2868I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(K2865N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(K2865E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN1
(D2860G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(G2856D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(D2852N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(K2851E)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
(Y2849N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(K2848T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
(K2848Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GLikely benign
FBN1
(E2846D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(E2846G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(L2845V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
FBN1
(L2842F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(P2835T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related disorder
+9 more
GConflicting classifications of pathogenicity
FBN1
(T2834I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(S2833T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN1
(S2832N)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(S2832G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(I2831M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(V2823A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+3 more
GLikely benign
FBN1
(G2811E)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(D2801H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(E2796K)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+6 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related disorder
+4 more
GBenign/Likely benign
FBN1
(N2789H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(T2788M)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(R2776Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
(V2771I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(I2763V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
FBN1
(W2756L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(S2755G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(S2752N)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(N2750T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(T2747A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(E2746K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(Q2744H)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
FBN1
(D2743N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GLikely benign
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(E2742K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
(N2740S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(T2736S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GConflicting classifications of pathogenicity
FBN1
(N2734D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
FBN1
(T2733R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(T2733A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(R2730Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GConflicting classifications of pathogenicity
FBN1
(K2729Q)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
(G2727D)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(G2727S)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
FBN1
(R2726Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN1
(R2726W)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN1
(E2717K)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
FBN1
(A2714V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(A2714T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(S2709L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(N2708S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(G2703V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
(V2701I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
FBN1
(R2694Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(R2694G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
(G2691S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+7 more
GConflicting classifications of pathogenicity
FBN1
(M2690R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(M2690L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(V2687F)
Single nucleotide variant
(missense variant)
MASS syndrome
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
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