"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	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)	Myopathy +6 more	GPathogenic/Likely pathogenic
Select item 92483	NM_000152.5(GAA):c.307T>G (p.Cys103Gly)	GAA (C103G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 982775	NM_000152.5(GAA):c.1336A>G (p.Ile446Val)	GAA (I446V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance

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