ClinVar for MedGen (Select 383883) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2785	NM_000158.4(GBE1):c.1634A>G (p.His545Arg)	GBE1 (H545R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2784	NM_000158.4(GBE1):c.143+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GPathogenic