"Baylor Genetics"[submitter] AND "GBE1"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442219	NM_000158.4(GBE1):c.*12T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV	GUncertain significance
Select item 1053439	NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)	GBE1 (I694N)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
Select item 1501703	NM_000158.4(GBE1):c.2052+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 1516218	NM_000158.4(GBE1):c.2052+1G>T	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely pathogenic
Select item 1490966	NM_000158.4(GBE1):c.2052+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2675848	NM_000158.4(GBE1):c.1935-1C>A	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1345472	NM_000158.4(GBE1):c.1935-1C>T	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 1923913	NM_000158.4(GBE1):c.1934+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2675853	NM_000158.4(GBE1):c.1934+1A>G	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 346785	NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)	GBE1 (R637*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 3241693	NM_000158.4(GBE1):c.1902del (p.Asp635fs)	GBE1 (D635fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
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 1341385	NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)	GBE1 (E609*)	Single nucleotide variant (nonsense)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
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 2176208	NM_000158.4(GBE1):c.1823_1824del (p.His608fs)	GBE1 (H608fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 1067109	NM_000158.4(GBE1):c.1804-2A>T	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +2 more	GLikely pathogenic
Select item 1946027	NM_000158.4(GBE1):c.1799_1803+8del	GBE1	Deletion (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
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 952547	NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)	GBE1 (W596*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GConflicting classifications of pathogenicity
Select item 2675851	NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)	GBE1	Deletion (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1074514	NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)	GBE1	Deletion (nonsense)	Glycogen storage disease, type IV +1 more	GConflicting classifications of pathogenicity
Select item 1341387	NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)	GBE1 (R565Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	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 561269	NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)	GBE1 (Y560*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1069462	NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)	GBE1 (S559fs)	Microsatellite (frameshift variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 2675863	NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)	GBE1 (S559fs)	Microsatellite (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675850	NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)	GBE1 (E558*)	Duplication (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 848865	NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)	GBE1 (N541D)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 947646	NM_000158.4(GBE1):c.1618+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 2675849	NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)	GBE1 (F538V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 346787	NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)	GBE1 (Y535C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
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 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 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 449406	NM_000158.4(GBE1):c.1468del (p.Leu490fs)	GBE1 (L490fs)	Deletion (frameshift variant)	Glycogen storage disease IV, classic hepatic +2 more	GPathogenic/Likely pathogenic
Select item 2675860	NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)	GBE1 (Q482fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675866	NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)	GBE1 (W455*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675858	NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)	GBE1 (W455*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 3241691	NM_000158.4(GBE1):c.1344dup (p.Glu449fs)	GBE1 (E449fs)	Duplication (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1069503	NM_000158.4(GBE1):c.1336-1G>A	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IV, classic hepatic +1 more	GConflicting classifications of pathogenicity
Select item 836518	NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)	GBE1 (R434*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2675862	NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)	GBE1 (Q426*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675867	NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)	GBE1 (I424fs)	Insertion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 3241689	NM_000158.4(GBE1):c.1268dup (p.Ile424fs)	GBE1 (I424fs)	Duplication (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
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 2675856	NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)	GBE1 (F381fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 3241695	NM_000158.4(GBE1):c.1109-1G>T	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 224994	NM_000158.4(GBE1):c.1064G>A (p.Arg355His)	GBE1 (R355H)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GPathogenic/Likely pathogenic
Select item 2675847	NM_000158.4(GBE1):c.1053del (p.Phe351fs)	GBE1 (F351fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2675865	NM_000158.4(GBE1):c.1000del (p.Ile334fs)	GBE1 (I334fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 520679	NM_000158.4(GBE1):c.998A>T (p.Glu333Val)	GBE1 (E333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2675855	NM_000158.4(GBE1):c.993-1dup	GBE1	Duplication (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 478912	NM_000158.4(GBE1):c.993-1G>T	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 1952687	NM_000158.4(GBE1):c.993-2A>G	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 1066789	NM_000158.4(GBE1):c.992+2T>G	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GConflicting classifications of pathogenicity
Select item 3241694	NM_000158.4(GBE1):c.992+1G>T	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV	GLikely 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 2675852	NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)	GBE1	Insertion (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1068507	NM_000158.4(GBE1):c.909_912del (p.Phe303fs)	GBE1 (F303fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
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 2675861	NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)	GBE1 (H291fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 3241688	NM_000158.4(GBE1):c.860_861dup (p.Val288fs)	GBE1 (V288fs)	Microsatellite (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675857	NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)	GBE1 (L285*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 1074028	NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)	GBE1 (G264E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GConflicting classifications of pathogenicity
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 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 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 2675859	NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)	GBE1 (Q252fs)	Indel (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675846	NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)	GBE1 (Q252*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675864	NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)	GBE1 (Y251*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 3241692	NM_000158.4(GBE1):c.719del (p.Ile240fs)	GBE1 (I240fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2790	NM_000158.4(GBE1):c.708G>C (p.Gln236His)	GBE1 (Q236H)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 2028027	NM_000158.4(GBE1):c.691+1G>A	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely 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 1341395	NM_000158.4(GBE1):c.563A>C (p.His188Pro)	GBE1 (H188P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 2675854	NM_000158.4(GBE1):c.556-2A>G	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV	GLikely pathogenic
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 1076919	NM_000158.4(GBE1):c.505del (p.Asp169fs)	GBE1 (D169fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 1376912	NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)	GBE1 (W160*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 2089245	NM_000158.4(GBE1):c.430-1G>C	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +1 more	GLikely pathogenic
Select item 3241690	NM_000158.4(GBE1):c.360_366del (p.Lys121fs)	GBE1 (K121fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV	GLikely pathogenic
Select item 952612	NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)	GBE1 (Y112*)	Single nucleotide variant (nonsense)	Glycogen storage disease IV, classic hepatic +1 more	GPathogenic/Likely pathogenic
Select item 1454134	NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)	GBE1 (W107*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
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 371491	NM_000158.4(GBE1):c.288del (p.Gly97fs)	GBE1 (G97fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2140635	NM_000158.4(GBE1):c.232G>A (p.Val78Ile)	GBE1 (V78I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1071657	NM_000158.4(GBE1):c.216del (p.Tyr73fs)	GBE1 (Y73fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +2 more	GPathogenic/Likely pathogenic
Select item 2152486	NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)	GBE1	Deletion (nonsense)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2927147	NM_000158.4(GBE1):c.144-1G>C	GBE1	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 1066767	NM_000158.4(GBE1):c.143+2T>C	GBE1	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type IV +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
Select item 972014	NM_000158.4(GBE1):c.70del (p.Asp24fs)	GBE1 (D24fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 1453400	NM_000158.4(GBE1):c.47del (p.Ala16fs)	GBE1 (A16fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2926069	NM_000158.4(GBE1):c.26del (p.Ala9fs)	GBE1 (A9fs)	Deletion (frameshift variant)	Glycogen storage disease, type IV +1 more	GPathogenic/Likely pathogenic
Select item 2172324	NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)	GBE1 (A8T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GUncertain significance

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Items: 100