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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA2-AS1, PHKA2
(V1141E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
GUncertain significance
PHKA2
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IXa1
GLikely pathogenic
PHKA2
(K385E)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GUncertain significance
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