C0017923[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1162958	NM_000158.4(GBE1):c.2080A>G (p.Ile694Val)	GBE1 (I694V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance
Select item 558870	NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	GBE1 (A692T)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1312010	NM_000158.4(GBE1):c.2036G>A (p.Arg679His)	GBE1 (R679H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance
Select item 2081169	NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)	GBE1 (F616L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 639425	NM_000158.4(GBE1):c.1803+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 1693870	NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys)	GBE1 (R576C)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GUncertain significance
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 2194909	NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)	GBE1 (T463M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance
Select item 933561	NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)	GBE1 (D441G)	Single nucleotide variant (missense variant)	not provided +2 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 449407	NM_000158.4(GBE1):c.1239del (p.Asp413fs)	GBE1 (D413fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +2 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 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 1162960	NM_000158.4(GBE1):c.584G>A (p.Arg195Gln)	GBE1 (R195Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
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 632422	NM_000158.4(GBE1):c.555+1G>T	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 1162961	NM_000158.4(GBE1):c.527T>A (p.Ile176Lys)	GBE1 (I176K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
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 235761	NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)	GBE1 (K116E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
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 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 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
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database

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Items: 33