C1849722[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 18

	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 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 255383	NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)	GBE1 (T507A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 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 547847	NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala)	GBE1 (G429A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
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 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 255390	NM_000158.4(GBE1):c.579G>A (p.Lys193=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +4 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 +4 more	GBenign
Select item 1310835	NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)	GBE1 (R166C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
Select item 255388	NM_000158.4(GBE1):c.342C>T (p.Tyr114=)	GBE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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
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 255382	NM_000158.4(GBE1):c.143+10G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +4 more	GBenign
Select item 901896	NM_000158.4(GBE1):c.23C>T (p.Ala8Val)	GBE1 (A8V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
Select item 441107	NM_000158.4(GBE1):c.15G>A (p.Met5Ile)	GBE1 (M5I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 381416	NM_000158.4(GBE1):c.-28G>T	GBE1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign