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Links from MedGen

Items: 1 to 100 of 441

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
(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
(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
(3 prime UTR 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
(synonymous 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)
Aortic aneurysm, familial thoracic 8
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)
Aortic aneurysm, familial thoracic 8
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)
Aortic aneurysm, familial thoracic 8
+1 more
GLikely benign
PRKG1
(Y247H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CSTF2T, PRKG1
Duplication
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Duplication
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Duplication
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
Deletion
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
(N276K +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
GUncertain significance
PRKG1
(R107Q +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 8
+1 more
GUncertain significance
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
(S102G)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
PRKG1
(P121S +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
(G666R +2 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
(V377I +1 more)
Single nucleotide variant
(5 prime UTR 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
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
(Q69R)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 8
GUncertain significance
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