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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GConflicting classifications of pathogenicity
PRKG1
(I249V +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
+2 more
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
+1 more
GBenign/Likely benign
PRKG1
(A358G +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign
PRKG1
(N589T +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
+1 more
GUncertain significance
PRKG1
(T243S +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
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