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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC126862124
(C1444R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1, LOC126862124
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+2 more
GLikely benign
FBN1, LOC126862124
(V1436M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+12 more
GConflicting classifications of pathogenicity
FBN1, LOC126862124
(C1431*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
FBN1, LOC126862124
(R1428H)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 2, dominant
+9 more
GUncertain significance
FBN1, LOC126862124
(P1424L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC126862124, FBN1
(L1405R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
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