"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255385	NM_000158.4(GBE1):c.1716C>T (p.Asp572=)	GBE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 255392	NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	GBE1 (G280D)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GBenign/Likely benign
Select item 208584	NM_000158.4(GBE1):c.691+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease +6 more	GPathogenic
Select item 255386	NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)	GBE1 (I59T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 381417	NM_000158.4(GBE1):c.143+11A>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
Select item 255381	NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	GBE1 (P40T)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GBenign/Likely benign

ClinVar