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Links from MedGen

Items: 1 to 100 of 467

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKG1
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(K593fs +2 more)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Microsatellite
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(P241S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(E348D +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(R373* +1 more)
Single nucleotide variant
(nonsense +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(K565E +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(G387R +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(C313S +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
+1 more
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(L38Q)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(Q223H +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(S381N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(C144S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(Q69P)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(T95I)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(W190S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(V122A +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(R76P)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(A368P +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Insertion
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(E29Q)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(K533Q +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(Q23R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(F367L +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(R388Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(L11F)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Duplication
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(S263N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(Q63H)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(I207N +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(L366V +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(M201I +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
PRKG1
(G161S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(A65E)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
(G302E +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(splice acceptor variant)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 8
GLikely benign
PRKG1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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