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Links from MedGen

Items: 1 to 100 of 2298

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2, LOC126807501
(W1007R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(E2617*)
Single nucleotide variant
(nonsense)
Congenital contractural arachnodactyly
GLikely pathogenic
FBN2, LOC126807501
(V1064I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(T2430A)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(P2024H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(S2843R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(V2390A)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2, LOC126807501
(K1072R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(R302K)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(I1116V)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(D1410E)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(S2372T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(Q45P)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Microsatellite
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(L825F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(R414H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(P1778T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(S1914N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(L104H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(G2553V)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(A1698S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GBenign
FBN2
(T2787A)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(D2695N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(S54F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(Q599H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(A2398S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(T2487I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(S2775G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(G480E)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(L2000I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Deletion
(intron variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(R4G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GBenign
FBN2
(E2306G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(H672Y)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(K2507N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(I2832N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(S1347F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(A746T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(R970L)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GBenign
FBN2
(S1383P)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(N1112S)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(I137M)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(G2553W)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(D1866N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GBenign
FBN2
(V338L)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(G1570A)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(R703L)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(S858G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(intron variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(splice donor variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(Y2912H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(F1831L)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GBenign
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