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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
(S458A +4 more)
Single nucleotide variant
(missense variant)
Lethal congenital glycogen storage disease of heart
+3 more
GUncertain significance
LOC129999660, PRKAG2
(L235R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PRKAG2
(S109A +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
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