C1849722[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 577677	NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	GBE1 (E609K)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GConflicting classifications of pathogenicity
Select item 425301	NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	GBE1 (R565W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
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 180651	NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	GBE1 (R515H)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 371439	NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	GBE1 (Y329C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +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 1341394	NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)	GBE1 (G299*)	Single nucleotide variant (nonsense)	Glycogen storage disease IV, classic hepatic +2 more	GPathogenic/Likely pathogenic
Select item 437422	NM_000158.4(GBE1):c.785G>A (p.Arg262His)	GBE1 (R262H)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +4 more	GConflicting classifications of pathogenicity
Select item 2791	NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)	GBE1 (R262C)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 374517	NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)	GBE1 (T254A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 208584	NM_000158.4(GBE1):c.691+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +6 more	GPathogenic
Select item 1341396	NM_000158.4(GBE1):c.293T>G (p.Val98Gly)	GBE1 (V98G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity