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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2
(R198H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
ACTA2
(R136L +1 more)
Single nucleotide variant
(missense variant)
Multisystemic smooth muscle dysfunction syndrome
GPathogenic
ACTA2
(R179H +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
ACTA2
(R142S +1 more)
Single nucleotide variant
(missense variant)
Multisystemic smooth muscle dysfunction syndrome
GPathogenic
ACTA2
(R179C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
ACTA2
Deletion
(splice donor variant)
Descending aortic dissection
GPathogenic
ACTA2
(R149L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACTA2
(R149C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ACTA2
Single nucleotide variant
(splice donor variant +1 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(R118Q +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+4 more
GPathogenic/Likely pathogenic
ACTA2
(P114fs)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 6
GLikely pathogenic
ACTA2
(E109fs)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 6
GLikely pathogenic
ACTA2
(I73T)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(M49T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely pathogenic
ACTA2
(M49V)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(M46I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACTA2
(M46I)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(M46R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACTA2
(R39H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ACTA2
(R39S)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GLikely pathogenic
ACTA2
(R39G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACTA2
(R39C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ACTA2
(C19R)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GLikely pathogenic
ACTA2
(S16P)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
GLikely pathogenic
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