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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(T227A +7 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL5A1
(A93V)
Single nucleotide variant
(missense variant)
Fibromuscular dysplasia, multifocal
+8 more
GBenign/Likely benign
COL2A1
Deletion
(splice donor variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(C2418S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
Deletion
(frameshift variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+4 more
GPathogenic
FBN1
(E2130K)
Single nucleotide variant
(missense variant)
FBN1-related condition
+11 more
GPathogenic/Likely pathogenic
FBN1
(G2003R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
FBN1-related condition
+5 more
GPathogenic/Likely pathogenic
FBN1
(D1322Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(C816R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+3 more
GPathogenic/Likely pathogenic
FBN1
(S634P)
Single nucleotide variant
(missense variant)
Lens luxation
+6 more
GConflicting classifications of pathogenicity
FBN1
(Y519C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
Deletion
(intron variant)
Marfan syndrome
GUncertain significance
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