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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2
(R54H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
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
(A230G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GUncertain significance
ACTA2
(I36T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2
(D26E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 6
+2 more
GUncertain significance
ACTA2
Single nucleotide variant
(intron variant)
Multisystemic smooth muscle dysfunction syndrome
+4 more
GUncertain significance
ACTA2
(T68I)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+2 more
GUncertain significance
ACTA2
(R185* +2 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GUncertain significance
ACTA2
(A99G +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+5 more
GUncertain significance
ACTA2
(R198H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic/Likely pathogenic
ACTA2, ACTA2-AS1
(R256C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
(T326N +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
ACTA2
(T108M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
ACTA2
(R118Q +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+4 more
GPathogenic/Likely pathogenic
ACTA2
(R39C)
Single nucleotide variant
(missense variant)
See cases
+6 more
GPathogenic/Likely pathogenic
ACTA2
(R179H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GPathogenic
ACTA2, ACTA2-AS1
(R258C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+2 more
GPathogenic
ACTA2, ACTA2-AS1
(R258H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
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