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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
(I492N +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+7 more
GUncertain significance
PRKAG2
(D464N +4 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+8 more
GUncertain significance
PRKAG2
(A437G +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
PRKAG2
(Q423K +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PRKAG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKAG2
(S333A +4 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
PRKAG2
(R302Q +4 more)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+8 more
GPathogenic
PRKAG2
(K290E +4 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
PRKAG2
(T142I +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 6
+7 more
GConflicting classifications of pathogenicity
PRKAG2
(N137I +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
PRKAG2
(S16C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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