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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE3, LINC01389
(P53L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
FOXE3-related disorder
+6 more
GBenign/Likely benign
FOXE3, LINC01389
Single nucleotide variant
(synonymous variant)
Congenital primary aphakia
+7 more
GBenign
FOXE3, LINC01389
(G196A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(V201M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
FOXE3, LINC01389
(G207R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FOXE3, LINC01389
(P235S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
FOXE3, LINC01389
(S300G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
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