U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA2
(Q79*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXa1
GPathogenic
PHKA2
(W43S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXa1
GLikely pathogenic