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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
(Q503R +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+4 more
GUncertain significance
PRKAG2
(I492N +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+7 more
GUncertain significance
PRKAG2
(T191M +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
PRKAG2
(S172C +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
PRKAG2
Deletion
(intron variant)
Lethal congenital glycogen storage disease of heart
+2 more
GBenign/Likely benign
PRKAG2
(S333A +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
PRKAG2
(V289I +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
LOC129999660, PRKAG2
(L199V +3 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
PRKAG2
(S207C +2 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+4 more
GUncertain significance
PRKAG2
(P198L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
PRKAG2
(P153L +2 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+4 more
GUncertain significance
PRKAG2
(S194L +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
PRKAG2
(R186Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
PRKAG2
(R186W +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
PRKAG2
(G114D +2 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+2 more
GUncertain significance
PRKAG2
(T142I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+7 more
GConflicting classifications of pathogenicity
PRKAG2
(K132R +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
PRKAG2
(P114L +1 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+6 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(synonymous variant)
Wolff-Parkinson-White pattern
+5 more
GLikely benign
PRKAG2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 6
+2 more
GUncertain significance
PRKAG2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+6 more
GLikely benign
PRKAG2
(K11E)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GUncertain significance
PRKAG2
Single nucleotide variant
(5 prime UTR variant)
Wolff-Parkinson-White pattern
+2 more
GUncertain significance
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