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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
Single nucleotide variant
(intron variant)
Lethal congenital glycogen storage disease of heart
+1 more
GUncertain significance
PRKAG2
(R350K +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+2 more
GUncertain significance
PRKAG2
(R302Q +4 more)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+8 more
GPathogenic
PRKAG2
(Q172E +2 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
PRKAG2
(R119Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
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