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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA1
(P1119L +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(V914I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(G905S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(P850A +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
PHKA1
(R680Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXd
GUncertain significance
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