ClinVar (all) for Orgtrack (Select 507242) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810667	NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)	GAA	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic
Select item 810666	NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)	GAA (Q692*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic
Select item 289367	NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)	GAA (P361R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 189041	NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	GAA (W376fs)	Indel (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189025	NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	GAA (W516*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189009	NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	GAA (R870*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4021	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA (M318T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database

ClinVar