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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(Q2867fs)
Deletion
(frameshift variant)
Abnormality of connective tissue
GPathogenic
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
(T2203A)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
FBN1
(E2130K)
Single nucleotide variant
(missense variant)
FBN1-related condition
+11 more
GPathogenic/Likely pathogenic
FBN1
(R2057Q)
Single nucleotide variant
(missense variant)
Osteoporosis
GUncertain significance
FBN1
(G2003R)
Single nucleotide variant
(missense variant)
See cases
+10 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+5 more
GPathogenic/Likely pathogenic
FBN1
(G1483R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN1
Deletion
(intron variant)
Marfan syndrome
GUncertain significance
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