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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA2, PHKA2-AS1
(P1205L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PHKA2, PHKA2-AS1
(M1170T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
+4 more
GBenign/Likely benign
PHKA2-AS1, PHKA2
(T1153M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PHKA2, PHKA2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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