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Links from MedGen

Items: 1 to 100 of 292

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC113939944
+1 more
Deletion
Weill-Marchesani syndrome 2, dominant
GLikely pathogenic
FBN1
(S110C)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
GLikely pathogenic
FBN1
(G1754D)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
GLikely pathogenic
FBN1
(C2190Y)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+7 more
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
Geleophysic dysplasia 2
+7 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Geleophysic dysplasia 2
+7 more
GUncertain significance
FBN1
(T655I)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+7 more
GUncertain significance
FBN1
(P918fs)
Deletion
(frameshift variant)
Geleophysic dysplasia 2
+8 more
GPathogenic
FBN1
(R1469L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(I107L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Stiff skin syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(Q1946fs)
Deletion
(frameshift variant)
Stiff skin syndrome
+7 more
GPathogenic
FBN1
(L1193P)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+7 more
GUncertain significance
FBN1, LOC130057019
Single nucleotide variant
(synonymous variant)
Stiff skin syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(C734R)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+7 more
GLikely pathogenic
FBN1
Single nucleotide variant
(intron variant)
MASS syndrome
+8 more
GLikely benign
FBN1
Duplication
(splice donor variant)
Ectopia lentis 1, isolated, autosomal dominant
+7 more
GLikely pathogenic
FBN1
(H1377L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(H1918R)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(P2214A)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(R1906Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(C1374Y)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GPathogenic
FBN1
(I1856V)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+9 more
GUncertain significance
FBN1
(T1496M)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(I2806M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1
(E1980Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(F1468L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(A2614P)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+7 more
GConflicting classifications of pathogenicity
FBN1
(L199F)
Single nucleotide variant
(missense variant)
Progeroid and marfanoid aspect-lipodystrophy syndrome
+7 more
GUncertain significance
FBN1
(E151Q)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(N2178S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(D2135H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(G267R)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(T1069A)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(I817V)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(V629I)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+9 more
GConflicting classifications of pathogenicity
FBN1
(A2614T)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
FBN1
(M99I)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+8 more
GUncertain significance
FBN1, LOC113939944
(R344H)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(L647P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(R636K)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(I1175V)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+9 more
GConflicting classifications of pathogenicity
FBN1
(D1120V)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GConflicting classifications of pathogenicity
FBN1
(Q1085R)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(Y1311N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(D912G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(Q2054R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(G2187S)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+10 more
GUncertain significance
FBN1
(I1198V)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GUncertain significance
FBN1
(T1868I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(R1632C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(V1817M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(P1573L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(R2576H)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(T1396I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(G2187D)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(G1397V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(L583F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(S521N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(I953T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(I1290T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(Y1696H)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GConflicting classifications of pathogenicity
FBN1
(F269S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(N736K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(N1959S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(R2242H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(P1009L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(N120I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(T1904I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(A1822T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
LOC126862124, FBN1
(A1443V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(R782G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(D2485E)
Single nucleotide variant
(missense variant)
not specified
+10 more
GUncertain significance
FBN1
(R1596Q)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GUncertain significance
FBN1
(R1771Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(S510L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(M1384I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(M2397V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(D2801H)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GUncertain significance
FBN1
(Q874R)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+9 more
GUncertain significance
FBN1
(E2846G)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GLikely benign
FBN1, LOC126862124
(D1432N)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(R1388L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(T1988I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(G260R)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(R2394Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
(N1959D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(V266I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1, LOC113939944
(A373V)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+8 more
GUncertain significance
FBN1
(T2516I)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(R539W)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
FBN1
(K934T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(G2277E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+9 more
GLikely benign
FBN1
(E2197A)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
See cases
+9 more
GUncertain significance
FBN1
(L2626V)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+8 more
GUncertain significance
FBN1
(R1820H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
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