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Items: 1 to 100 of 712

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(Y2849fs)
Duplication
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(E2846*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GPathogenic
FBN1
(L2842fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic
FBN1
(K2840fs)
Duplication
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(Q2830*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
FBN1
(Y2827fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(T2826S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(H2816P)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(E2810fs)
Deletion
(frameshift variant)
Marfan syndrome
GUncertain significance
FBN1
(I2806fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(N2799fs)
Deletion
(frameshift variant)
Marfan syndrome
GUncertain significance
FBN1
(Y2793C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(Y2793H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GConflicting classifications of pathogenicity
FBN1
(T2788M)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(I2777T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R2776*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+3 more
GPathogenic/Likely pathogenic
FBN1
(S2772fs)
Duplication
(frameshift variant)
Marfan syndrome
GUncertain significance
FBN1
(N2767D)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(R2730W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 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
(K2719*)
Duplication
(nonsense)
not provided
GPathogenic
FBN1
(E2717fs)
Insertion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(E2717*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GPathogenic
FBN1
(E2717K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(Y2716*)
Duplication
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(R2694*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GPathogenic
FBN1
(M2690T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(H2685R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GUncertain significance
FBN1
Indel
Marfan syndrome
GPathogenic
FBN1
(R2680C)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GPathogenic/Likely pathogenic
FBN1
(C2672S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2672Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(G2668C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FBN1
(Y2661C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1
(S2660R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
(C2659G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C2659fs)
Duplication
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(P2658A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(G2644fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2646R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
Indel
Marfan syndrome
GLikely pathogenic
FBN1
(Q2641*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(Y2639C)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GPathogenic/Likely pathogenic
FBN1
(A2635T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GBenign/Likely benign
FBN1
(C2631F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(C2631Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(G2627V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(G2627R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GLikely pathogenic
FBN1
(N2624S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C2622R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C2622S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(G2618R)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+9 more
GConflicting classifications of pathogenicity
FBN1
(C2617Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(I2616M)
Single nucleotide variant
(missense variant)
Progeroid and marfanoid aspect-lipodystrophy syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(E2610V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(E2610K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice donor variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
Deletion
(inframe_deletion)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(C2605fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(Q2594fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(Q2594*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GPathogenic
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+11 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2581Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(R2576C)
Single nucleotide variant
(missense variant)
FBN1-related condition
+5 more
GConflicting classifications of pathogenicity
FBN1
(N2574fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2571F)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2571Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice donor variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(F2548fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(S2537fs)
Duplication
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(G2536R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GPathogenic/Likely pathogenic
FBN1
(C2535R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(N2526fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(N2525fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2522*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GLikely pathogenic
FBN1
(G2514R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C2511Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(C2511R)
Single nucleotide variant
(missense variant)
FBN1-related condition
+3 more
GPathogenic
FBN1
(N2502I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
(C2496F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(C2496S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2489G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C2483S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C2483R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(E2478*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GPathogenic
FBN1
(P2471R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GConflicting classifications of pathogenicity
FBN1
(C2470W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
FBN1
(C2470Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C2470R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(Y2466*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(K2460R)
Single nucleotide variant
(missense variant)
FBN1-related condition
+4 more
GUncertain significance
FBN1
(I2458fs)
Duplication
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
GLikely pathogenic
FBN1
(D2444Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
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