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Items: 1 to 100 of 354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2
(H42Y)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(S7N)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(A140G +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(E275K +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(G50R)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(M243V +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(V118I +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(T289I +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(R54P +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(K328del +3 more)
Deletion
(inframe_indel +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(H175fs +2 more)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(S306Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(L231I +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(S194Y +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(T241I +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(T162A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(G304W +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(T242N +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(D113H +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(K317del +3 more)
Deletion
(inframe_deletion)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(C12*)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(G261S +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(C19S)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(K266T +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(K172fs +2 more)
Deletion
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(G48E)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(C176R +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(I73T)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2, ACTA2-AS1
(E173D +2 more)
Single nucleotide variant
(missense variant +2 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
ACTA2, FAS
+1 more
Duplication
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(E102A +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(E183D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(I250V +2 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(M1I)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(A321G +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+1 more
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(V341fs)
Duplication
(frameshift variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
(N113D +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(W294R +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
(G267D +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(E224G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
(N51D +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(G210R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
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