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Links from MedGen

Items: 1 to 100 of 6078

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(E2130A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(G255fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1, LOC113939944
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(H2579fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
LOC126862124, FBN1
+5 more
Deletion
Marfan syndrome
GPathogenic
FBN1
(V1756fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(S2005fs)
Insertion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(Y2004*)
Single nucleotide variant
(nonsense)
Marfan syndrome
GLikely pathogenic
FBN1, LOC126862124
(C1431R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(Y63H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(M2244I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(A2714P)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(D2329N)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(G502R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(K496E)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(F1841L)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(K2492R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(G2312R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
GLikely pathogenic
FBN1
(V266F)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(E2735Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(A1560P)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R485H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(P408S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(T1878I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(L406I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
(I1150M)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1, LOC113939944
(D330G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(S2855I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
(K2037T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(D492N)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(D2436N)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R2311C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(M2058T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Duplication
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(F269L)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(K387fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(A39D)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1, LOC113939944
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1, LOC130057019
(Y20fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1, LOC113939944
(V372I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(P1739S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(K2510T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(G931R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(G2235E)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(P2435A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Microsatellite
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
Deletion
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
(T619I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(I2158S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
(M124T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(C528S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1, LOC130057019
(V15L)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(E995K)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R2220L)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(T1950A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(S1481N)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(D1322E)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(M2347I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
LOC130057019, FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1
(R2369T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely benign
FBN1
(N1926del)
Microsatellite
(inframe_deletion)
Marfan syndrome
GUncertain significance
FBN1
(I121V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(S1293N)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GUncertain significance
FBN1
(D912H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R1075S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(S1843F)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(S713G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(V2172A)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
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