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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related condition
+9 more
GConflicting classifications of pathogenicity
FBN1
(F2817V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(R2776*)
Single nucleotide variant
(nonsense)
Isolated thoracic aortic aneurysm
+3 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
FBN1-related condition
+8 more
GBenign/Likely benign
FBN1
(G2727S)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+10 more
GUncertain significance
FBN1
(R2726W)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia
+8 more
GConflicting classifications of pathogenicity
FBN1
(A2655V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN1
(I2616V)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia
+7 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FBN1
(S2353G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN1
(Q2345fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+4 more
GBenign/Likely benign
FBN1
(P2278S)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
(V2234M)
Single nucleotide variant
(missense variant)
FBN1-related condition
+8 more
GConflicting classifications of pathogenicity
FBN1
(Y2228fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(A2025S)
Single nucleotide variant
(missense variant)
FBN1-related condition
+3 more
GBenign/Likely benign
FBN1
(D2015N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN1
Duplication
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic
FBN1
(Y1839F)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
(G1762S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(R1530C)
Single nucleotide variant
(missense variant)
FBN1-related condition
+11 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1
(S1481G)
Single nucleotide variant
(missense variant)
FBN1-related condition
+11 more
GConflicting classifications of pathogenicity
FBN1
(P1453L)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+10 more
GUncertain significance
FBN1, LOC126862124
(P1424A)
Single nucleotide variant
(missense variant)
MASS syndrome
+12 more
GConflicting classifications of pathogenicity
FBN1
(C1391F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN1
(R1170H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+9 more
GBenign
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
(P1148A)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+9 more
GBenign
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
Deletion
(intron variant)
FBN1-related condition
+3 more
GBenign/Likely benign
FBN1
(G1013R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(A986T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(M977R)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+10 more
GConflicting classifications of pathogenicity
FBN1
(R974C)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+3 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
FBN1-related condition
+4 more
GBenign
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(A500P)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(C494S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(G422E)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FBN1
(I329T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(R327T)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+9 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+9 more
GBenign/Likely benign
FBN1
(G47S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(A42P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1, LOC130057019
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
FBN1, LOC130057019
(Y20C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
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