ClinVar for PubMed (Select 8990003) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4033	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA (E176fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic 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 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Myopathy +6 more	GPathogenic/Likely pathogenic

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