ClinVar for PubMed (Select 7717400) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180144	NM_000152.5(GAA):c.896T>C (p.Leu299Pro)	GAA (L299P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92488	NM_000152.5(GAA):c.668G>A (p.Arg223His)	GAA (R223H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 4031	NM_000152.5(GAA):c.2483_2646+1del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II	GPathogenic
Select item 4028	NM_000152.5(GAA):c.2707_2709del (p.Lys903del)	GAA (K903del)	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Myopathy +6 more	GPathogenic/Likely pathogenic
Select item 4025	NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	GAA (L299R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database

ClinVar