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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2, ACTA2-AS1
Deletion
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
ACTA2-AS1, ACTA2
(R374C +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
ACTA2, ACTA2-AS1
(S370C +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(A367V +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(E363Q +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(L351fs)
Microsatellite
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(S340fs)
Microsatellite
(frameshift variant +1 more)
Multisystemic smooth muscle dysfunction syndrome
+2 more
GUncertain significance
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(K338R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(R337C +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+3 more
GLikely benign
ACTA2-AS1, ACTA2
(T326N +3 more)
Single nucleotide variant
(missense variant)
ACTA2-related disorder
+6 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ACTA2, ACTA2-AS1
(T320M +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(Q316L +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
(G304D +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2-AS1, ACTA2
(G304fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(I291M +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Deletion
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(M271L +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2-AS1, ACTA2
(G270R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+2 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+2 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(C259fs)
Deletion
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(G253E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(I250L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(S241N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(A233V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(A233T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(T231A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(A230G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(I214T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(R208H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+2 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant +1 more)
not specified
+2 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
ACTA2
(V203I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GLikely benign
ACTA2
(R198H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
ACTA2
(T196fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
(K193R +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
(M192V +2 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
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
(V161D +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
ACTA2-related disorder
+3 more
GConflicting classifications of pathogenicity
ACTA2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
ACTA2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ACTA2
(Y135H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
ACTA2
(M134T +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+2 more
GConflicting classifications of pathogenicity
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GConflicting classifications of pathogenicity
ACTA2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
(R118Q +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+4 more
GPathogenic/Likely pathogenic
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
(P104S +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
(A99G +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GUncertain significance
ACTA2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
(N94S +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
ACTA2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
+2 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
ACTA2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
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