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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(L1003P)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 2
GUncertain significance
FBN2
(G798S)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
FBN1
(G2367R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FLNA
(D1332G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SLC2A10
(A457V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ACTA2
(R149C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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