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Links from MedGen

Items: 1 to 100 of 765

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
Duplication
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Duplication
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Duplication
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Duplication
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(M45K +1 more)
Single nucleotide variant
(missense variant +2 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(R61L +1 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(V252L +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(S15F)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
(A134D +5 more)
Single nucleotide variant
(missense variant +2 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
LOC129999660, PRKAG2
(P193S +5 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(L115F)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(D250G +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(P154fs +3 more)
Deletion
(frameshift variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
(D250N +6 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(I436V +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(I188R +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(F43L)
Single nucleotide variant
(missense variant +2 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(M20T +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Microsatellite
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(L111P +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(L129F +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Deletion
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(I282M +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(D5N +1 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(N271H +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(I333T +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant +1 more)
Hypertrophic cardiomyopathy
+1 more
GLikely benign
PRKAG2
Deletion
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(P320L +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
LOC129999660, PRKAG2
Single nucleotide variant
(synonymous variant +2 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(F323V +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(S118C +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
PRKAG2
(I199V +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(Q111E +1 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
LOC129999660, PRKAG2
Duplication
(5 prime UTR variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(S130fs +1 more)
Deletion
(frameshift variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(P44L +1 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(K194fs +13 more)
Deletion
(frameshift variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
(Q187* +13 more)
Single nucleotide variant
(nonsense)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(T60A +1 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(S16T)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(E265K +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GPathogenic
PRKAG2
(R139Q +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(K205R +13 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
Single nucleotide variant
(synonymous variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
PRKAG2
(D325Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
(E143K +6 more)
Single nucleotide variant
(missense variant +1 more)
Lethal congenital glycogen storage disease of heart
GUncertain significance
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
LOC129999660, PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
GLikely benign
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