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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC126862124
Single nucleotide variant
(intron variant)
FBN1-related disorder
+3 more
GConflicting classifications of pathogenicity
LOC126862124, FBN1
(L1405R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
LOC126862124, FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+7 more
GConflicting classifications of pathogenicity
FBN1, LOC126862124
Single nucleotide variant
(intron variant)
FBN1-related disorder
GLikely benign
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