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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862124, FBN1
(C1444Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely pathogenic
FBN1, LOC126862124
(V1436M)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+12 more
GConflicting classifications of pathogenicity
FBN1, LOC126862124
(F1435fs)
Insertion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1, LOC126862124
(G1434fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1, LOC126862124
(C1431W)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1, LOC126862124
(C1431*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1, LOC126862124
(C1431Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1, LOC126862124
Microsatellite
(nonsense)
Marfan syndrome
GLikely pathogenic
FBN1, LOC126862124
(C1429W)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1, LOC126862124
(C1429Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic
FBN1, LOC126862124
(C1429S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1, LOC126862124
(P1424A)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 2
+12 more
GConflicting classifications of pathogenicity
FBN1, LOC126862124
(C1420F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
(C1420Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GLikely benign
FBN1, LOC126862124
(C1415R)
Single nucleotide variant
(missense variant)
Abnormality of connective tissue
+1 more
GLikely pathogenic
FBN1, LOC126862124
(C1408R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic
LOC126862124, FBN1
(L1405R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
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