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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKG2
(A85T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
+2 more
GConflicting classifications of pathogenicity
PHKG2
(S230L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHKG2
(R344Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PHKG2
(D351N)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXc
+1 more
GConflicting classifications of pathogenicity
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