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Links from MedGen

Items: 1 to 100 of 517

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(R232H)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
GUncertain significance
FBN1
(G2669R)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
GLikely pathogenic
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)
Marfan 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)
Ectopia lentis 1, isolated, autosomal dominant
+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
+9 more
GUncertain significance
FBN1
(H1918R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(P2214A)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+8 more
GUncertain significance
FBN1
(R1906Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(C1374Y)
Single nucleotide variant
(missense variant)
MASS syndrome
+8 more
GPathogenic
FBN1
(I1856V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(T1496M)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(E1980Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(F1468L)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GUncertain significance
FBN1
(A2614P)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+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)
MASS syndrome
+8 more
GUncertain significance
FBN1
(I817V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(V629I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(A2614T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(M99I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1, LOC113939944
(R344H)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(L647P)
Single nucleotide variant
(missense variant)
Progeroid and marfanoid aspect-lipodystrophy syndrome
+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)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
(D1120V)
Single nucleotide variant
(missense variant)
Acromicric dysplasia
+8 more
GConflicting classifications of pathogenicity
FBN1
(Q1085R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(Y1311N)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
(I1673T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(D912G)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GConflicting classifications of pathogenicity
FBN1
(Q2054R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(G2187S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GUncertain significance
FBN1
(I1198V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(T1868I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
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)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(R2576H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(T1396I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(G2187D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+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)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GConflicting classifications of pathogenicity
FBN1
(S521N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GConflicting classifications of pathogenicity
FBN1
(I953T)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(I1290T)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
(Y1696H)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GConflicting classifications of pathogenicity
FBN1
(F269S)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+9 more
GUncertain significance
FBN1
(N736K)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(N1959S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(R2242H)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(P1009L)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(N120I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
FBN1
(T1904I)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(A1822T)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+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)
Ectopia lentis 1, isolated, autosomal dominant
+10 more
GUncertain significance
FBN1
(R1596Q)
Single nucleotide variant
(missense variant)
FBN1-related disorder
+9 more
GUncertain significance
FBN1
(R1771Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(S510L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(M1384I)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(M2397V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GConflicting classifications of pathogenicity
FBN1
(D2801H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+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)
Marfan syndrome
+9 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+8 more
GLikely benign
FBN1, LOC126862124
(D1432N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
FBN1
(R1388L)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(T1988I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+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)
not specified
+10 more
GConflicting classifications of pathogenicity
FBN1
(N1959D)
Single nucleotide variant
(missense variant)
not specified
+9 more
GUncertain significance
FBN1
(V266I)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1, LOC113939944
(A373V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
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)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
FBN1
(G2277E)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GLikely benign
FBN1
(E2197A)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+8 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
(L2626V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GUncertain significance
FBN1
(R1820H)
Single nucleotide variant
(missense variant)
not provided
+9 more
GUncertain significance
FBN1
(T1868R)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GUncertain significance
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