"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 5

	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 930446	NM_000152.5(GAA):c.461G>C (p.Arg154Pro)	GAA (R154P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 930445	NM_000152.5(GAA):c.1194+5G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 189082	NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	GAA (R437C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 419722	NM_000152.5(GAA):c.1552-3C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database

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