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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC130057019
(N28S)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
LOC130057019, FBN1
(A27T)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1, LOC130057019
(D26H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GConflicting classifications of pathogenicity
FBN1, LOC130057019
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
FBN1, LOC130057019
(T21M)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1, LOC130057019
(Y20C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1, LOC130057019
(L16F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN1, LOC130057019
(F13C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+6 more
GConflicting classifications of pathogenicity
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