"GeneReviews"[submitter] AND "GBE1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2788	NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	GBE1 (H628R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 2786	NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)	GBE1 (E592*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2793	NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)	GBE1 (W548*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GPathogenic
Select item 2785	NM_000158.4(GBE1):c.1634A>G (p.His545Arg)	GBE1 (H545R)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2783	NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)	GBE1	Deletion	Glycogen storage disease, type IV +1 more	GPathogenic
Select item 2782	NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)	GBE1 (R524Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 2781	NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	GBE1 (R524*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +3 more	GPathogenic/Likely pathogenic
Select item 2779	NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)	GBE1 (R515C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2777	NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	GBE1 (Y329S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GPathogenic
Select item 2780	NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)	GBE1 (F257L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2792	NM_000158.4(GBE1):c.691+5G>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 2778	NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)	GBE1 (L224P)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 2784	NM_000158.4(GBE1):c.143+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic