C0017921[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	GAA-related condition +7 more	GPathogenic/Likely pathogenic
Select item 1034639	NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)	GAA (L369P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GConflicting classifications of pathogenicity
Select item 92462	NM_000152.5(GAA):c.1327-18A>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 4023	NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	GAA (G643R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 284886	NM_000152.5(GAA):c.2395C>T (p.His799Tyr)	GAA (H799Y)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 1685834	NM_000152.5(GAA):c.2740dup (p.Gln914fs)	GAA (Q914fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic

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