"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GBE1"[gene - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346783	NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	GBE1 (R679C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GConflicting classifications of pathogenicity
Select item 235560	NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)	GBE1 (A673T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 753195	NM_000158.4(GBE1):c.1995C>T (p.His665=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +2 more	GLikely benign
Select item 526615	NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)	GBE1 (L663P)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +3 more	GUncertain significance
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	GConflicting classifications of pathogenicity
Select item 624031	NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	GBE1 (N626S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GConflicting classifications of pathogenicity
Select item 2653984	NM_000158.4(GBE1):c.1794A>T (p.Ala598=)	GBE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425301	NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	GBE1 (R565W)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +6 more	GConflicting classifications of pathogenicity
Select item 387447	NM_000158.4(GBE1):c.1635T>C (p.His545=)	GBE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 211070	NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +4 more	GConflicting classifications of pathogenicity
Select item 548007	NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	GBE1 (E498K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +5 more	GUncertain significance
Select item 809510	NM_000158.4(GBE1):c.1371G>T (p.Met457Ile)	GBE1 (M457I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 493365	NM_000158.4(GBE1):c.1222A>G (p.Ile408Val)	GBE1 (I408V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 444613	NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)	GBE1 (S378R)	Single nucleotide variant (missense variant)	GBE1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 371439	NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	GBE1 (Y329C)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +4 more	GConflicting classifications of pathogenicity
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 346792	NM_000158.4(GBE1):c.859G>C (p.Val287Leu)	GBE1 (V287L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 255392	NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	GBE1 (G280D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
Select item 374517	NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	GBE1 (T254A)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +4 more	GConflicting classifications of pathogenicity
Select item 208584	NM_000158.4(GBE1):c.691+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +7 more	GPathogenic
Select item 2498935	NM_000158.4(GBE1):c.412C>G (p.His138Asp)	GBE1 (H138D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346795	NM_000158.4(GBE1):c.405C>T (p.Leu135=)	GBE1	Single nucleotide variant (synonymous variant)	Adult polyglucosan body disease +4 more	GBenign/Likely benign
Select item 1308328	NM_000158.4(GBE1):c.278C>T (p.Pro93Leu)	GBE1 (P93L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 255386	NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)	GBE1 (I59T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 255381	NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	GBE1 (P40T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
Select item 515221	NM_000158.4(GBE1):c.45G>A (p.Glu15=)	GBE1	Single nucleotide variant (synonymous variant)	Adult polyglucosan body disease +4 more	GConflicting classifications of pathogenicity
Select item 380492	NM_000158.4(GBE1):c.24G>A (p.Ala8=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
Select item 441107	NM_000158.4(GBE1):c.15G>A (p.Met5Ile)	GBE1 (M5I)	Single nucleotide variant (missense variant)	GBE1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1186545	NC_000003.12:g.81761728C>T	GBE1	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 2672982	GRCh37/hg19 3p12.2(chr3:81539558-81810668)x1	GBE1	Copy number loss	not provided	GPathogenic

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Items: 30