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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA1
(V227fs)
Deletion
(frameshift variant)
Glycogen storage disease IXd
GLikely pathogenic
PHKA1, PHKA1-AS1
(M148V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance