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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA2, PHKA2-AS1
(E1125K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Glycogen storage disease IXa1
+1 more
GUncertain significance
PHKA2
(V1082M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
PHKA2
(R1072del)
Deletion
(inframe_deletion)
Glycogen storage disease IXa1
+1 more
GPathogenic/Likely pathogenic
PHKA2
(R916W)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GPathogenic/Likely pathogenic
PHKA2
(L829V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHKA2
(A466T)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
+1 more
GBenign/Likely benign
PHKA2
(G300D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHKA2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
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