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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2
(R1099C)
Single nucleotide variant
(missense variant)
Arterial dissection
GUncertain significance
SMAD3
(V377I +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
SKI
(S523L)
Single nucleotide variant
(missense variant)
Shprintzen-Goldberg syndrome
+2 more
GLikely benign
NOTCH1
(G841S)
Single nucleotide variant
(missense variant)
Aortic valve disease 1
+3 more
GConflicting classifications of pathogenicity
GATA5
(P35L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
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