"Phosphorus, Inc."[submitter] AND "GAA"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92486	NM_000152.5(GAA):c.596A>G (p.His199Arg)	GAA (H199R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 92489	NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	GAA	Insertion (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92490	NM_000152.5(GAA):c.921A>T (p.Ala307=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92461	NM_000152.5(GAA):c.1203G>A (p.Gln401=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92463	NM_000152.5(GAA):c.1374C>T (p.Tyr458=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +3 more	GBenign
Select item 92466	NM_000152.5(GAA):c.1581G>A (p.Arg527=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 4030	NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	GAA (E689K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign; other
Select item 92477	NM_000152.5(GAA):c.2446G>A (p.Val816Ile)	GAA (V816I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92482	NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)	GAA (T927I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92459	NM_000152.5(GAA):c.*3G>A	GAA	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type II +2 more	GBenign