C0017921[trait identifier] AND "3billion"[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)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 657348	NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	GAA (D404N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 860774	NM_000152.5(GAA):c.1464dup (p.Asp489fs)	GAA (D489fs)	Duplication (frameshift variant)	Glycogen storage disease, type II	GPathogenic
Select item 189124	NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	GAA (M519T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4022	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	GAA (E521K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687592	NM_000152.5(GAA):c.1834C>A (p.His612Asn)	GAA (H612N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 1322949	NM_000152.5(GAA):c.2261dup (p.Val755fs)	GAA (V755fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 4034	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	GAA (R854*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database

ClinVar