"Clinical Genetics, Academic Medical Center"[submitter] AND "GBE1"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235560	NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	GBE1 (A673T)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GBenign/Likely benign
Select item 211070	NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 255383	NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)	GBE1 (T507A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 548007	NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	GBE1 (E498K)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +5 more	GUncertain significance
Select item 1168034	NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)	GBE1 (I334V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GBenign
Select item 255390	NM_000158.4(GBE1):c.579G>A (p.Lys193=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +3 more	GBenign
Select item 197636	NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)	GBE1 (R190G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GBenign
Select item 346795	NM_000158.4(GBE1):c.405C>T (p.Leu135=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
Select item 255388	NM_000158.4(GBE1):c.342C>T (p.Tyr114=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255382	NM_000158.4(GBE1):c.143+10G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +3 more	GBenign