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Items: 1 to 100 of 618

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
ACTA2, ACTA2-AS1
+21 more
Copy number gain
See cases
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant)
Moyamoya disease
+2 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Multisystemic smooth muscle dysfunction syndrome
+1 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Multisystemic smooth muscle dysfunction syndrome
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Multisystemic smooth muscle dysfunction syndrome
+1 more
GUncertain significance
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
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
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
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
ACTA2, ACTA2-AS1
(C376fs)
Deletion
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(R374H +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
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
(V308A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(I371N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(I371T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(S306Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
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
(G304W +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(G368R +3 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)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
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-AS1, ACTA2
(D301E +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(D301N +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
(Q362* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(I359S +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
ACTA2, ACTA2-AS1
(W294R +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(Q313R +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(Q356* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(T289I +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(T310N +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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)
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, ACTA2-AS1
(G344S +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ACTA2, ACTA2-AS1
(W342* +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
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
(V341fs)
Duplication
(frameshift variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
(S340fs)
Microsatellite
(frameshift variant +1 more)
Multisystemic smooth muscle dysfunction syndrome
+2 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+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
(R294H +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
(E336G +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(E336Q +3 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)
not provided
GUncertain significance
ACTA2, ACTA2-AS1
(P271L +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(P271T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(P335A +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
ACTA2, ACTA2-AS1
(I332T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(I268V +3 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
ACTA2, ACTA2-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
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, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
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)
Aortic aneurysm, familial thoracic 6
GLikely benign
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
(non-coding transcript 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, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ACTA2, ACTA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACTA2, ACTA2-AS1
Deletion
(intron 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
(K328del +3 more)
Deletion
(inframe_indel +1 more)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2-AS1, ACTA2
(T326N +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
ACTA2, ACTA2-AS1
(T262A +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(P324S +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GUncertain significance
ACTA2-AS1, ACTA2
(A259V +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
GLikely benign
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
GLikely benign
ACTA2, ACTA2-AS1
(A321G +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
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
(T320P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
ACTA2, ACTA2-AS1
(E318D +3 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(E318G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA2, ACTA2-AS1
(E275K +3 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, ACTA2-AS1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 6
+1 more
GLikely benign
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