"GeneDx"[submitter] AND "GBE1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145882	GRCh38/hg38 3p12.2(chr3:80214687-83388676)x3	GBE1, LINC02008 +16 more	Copy number gain	See cases	GLikely benign
Select item 346780	NM_000158.4(GBE1):c.*308C>T	GBE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 346781	NM_000158.4(GBE1):c.*176G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +2 more	GBenign
Select item 346782	NM_000158.4(GBE1):c.*152C>A	GBE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 382620	NM_000158.4(GBE1):c.*5G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1304929	NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)	GBE1	Single nucleotide variant (stop lost)	not specified +3 more	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 1183838	NM_000158.4(GBE1):c.2053-3081dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294021	NM_000158.4(GBE1):c.2053-3194A>G	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2635394	NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATTACAGGT	GBE1	Indel (intron variant)	not provided +1 more	GLikely pathogenic
Select item 225145	NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	GBE1	Indel (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1201274	NM_000158.4(GBE1):c.2053-3382dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294018	NM_000158.4(GBE1):c.2053-3372del	GBE1	Deletion (intron variant)	not provided	GBenign
Select item 1179545	NM_000158.4(GBE1):c.2053-3506T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178473	NM_000158.4(GBE1):c.2052+295T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252855	NM_000158.4(GBE1):c.2052+51_2052+52insTTC	GBE1	Insertion (intron variant)	not provided	GBenign
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 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)	Adult polyglucosan body disease +4 more	GBenign/Likely benign
Select item 1306311	NM_000158.4(GBE1):c.1992C>A (p.Asp664Glu)	GBE1 (D664E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219802	NM_000158.4(GBE1):c.1935-214G>T	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57801	GRCh38/hg38 3p12.2-12.1(chr3:81504313-85127899)x1	CADM2, GBE1 +20 more	Copy number loss	See cases	GPathogenic
Select item 1205706	NM_000158.4(GBE1):c.1934+64dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1294371	NM_000158.4(GBE1):c.1934+77del	GBE1	Deletion (intron variant)	not provided	GBenign
Select item 1213134	NM_000158.4(GBE1):c.1934+76_1934+77del	GBE1	Deletion (intron variant)	not provided	GLikely benign
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 624031	NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	GBE1 (N626S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 346784	NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)	GBE1 (F625C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +2 more	GUncertain significance
Select item 1254149	NM_000158.4(GBE1):c.1804-6T>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +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 387447	NM_000158.4(GBE1):c.1635T>C (p.His545=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1252926	NM_000158.4(GBE1):c.1619-193C>T	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293341	NM_000158.4(GBE1):c.1618+167G>A	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1114846	NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)	GBE1 (P508A)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
Select item 211070	NM_000158.4(GBE1):c.1521T>C (p.Thr507=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +4 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 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 558872	NM_000158.4(GBE1):c.1447-40dup	GBE1	Duplication (intron variant)	not provided	GBenign
Select item 1200542	NM_000158.4(GBE1):c.1447-31del	GBE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1241015	NM_000158.4(GBE1):c.1446+102C>T	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509864	NM_000158.4(GBE1):c.1446+18T>C	GBE1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 511368	NM_000158.4(GBE1):c.1446+15G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +2 more	GLikely benign
Select item 598565	NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)	GBE1 (Q482E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GConflicting classifications of pathogenicity
Select item 346790	NM_000158.4(GBE1):c.1392C>T (p.Leu464=)	GBE1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1311666	NM_000158.4(GBE1):c.1388C>G (p.Thr463Arg)	GBE1 (T463R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452861	NM_000158.4(GBE1):c.1345G>T (p.Glu449Ter)	GBE1 (E449*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1215063	NM_000158.4(GBE1):c.1336-106C>T	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186409	NM_000158.4(GBE1):c.1336-222C>T	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293336	NM_000158.4(GBE1):c.1335+232C>A	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199525	NM_000158.4(GBE1):c.1335+231T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 640979	NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala)	GBE1 (G428A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1312053	NM_000158.4(GBE1):c.1270A>G (p.Ile424Val)	GBE1 (I424V)	Single nucleotide variant (missense variant)	not provided +3 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 346791	NM_000158.4(GBE1):c.1237-15C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 387970	NM_000158.4(GBE1):c.1237-18C>T	GBE1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1208262	NM_000158.4(GBE1):c.1236+298G>A	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667887	NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)	GBE1 (L390M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 444613	NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)	GBE1 (S378R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 1186076	NM_000158.4(GBE1):c.1109-217G>A	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197513	NM_000158.4(GBE1):c.1109-224C>A	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201717	NM_000158.4(GBE1):c.1109-269T>C	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207197	NM_000158.4(GBE1):c.1108+165A>G	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382068	NM_000158.4(GBE1):c.1080G>A (p.Thr360=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +2 more	GLikely benign
Select item 255393	NM_000158.4(GBE1):c.993-19T>C	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +2 more	GLikely benign
Select item 1202998	NM_000158.4(GBE1):c.993-316G>A	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204659	NM_000158.4(GBE1):c.992+265dup	GBE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1248768	NM_000158.4(GBE1):c.992+273del	GBE1	Deletion (intron variant)	not provided	GBenign
Select item 1268719	NM_000158.4(GBE1):c.992+259G>A	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175406	NM_000158.4(GBE1):c.992+182T>G	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304425	NM_000158.4(GBE1):c.991A>G (p.Ser331Gly)	GBE1 (S331G)	Single nucleotide variant (missense variant)	not provided	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 1700353	NM_000158.4(GBE1):c.959A>T (p.Asp320Val)	GBE1 (D320V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255392	NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	GBE1 (G280D)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 1189297	NM_000158.4(GBE1):c.783-105A>G	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277259	NM_000158.4(GBE1):c.783-244_783-243del	GBE1	Microsatellite (intron variant)	not provided	GBenign
Select item 1212773	NM_000158.4(GBE1):c.782+153C>T	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1697194	NM_000158.4(GBE1):c.674C>T (p.Pro225Leu)	GBE1 (P225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 740285	NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)	GBE1 (A214T)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GBenign/Likely benign
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 1257455	NM_000158.4(GBE1):c.555+274dup	GBE1	Duplication (intron variant)	not provided	GBenign
Select item 420237	NM_000158.4(GBE1):c.555+14del	GBE1	Deletion (intron variant)	Glycogen storage disease, type IV +2 more	GBenign/Likely benign
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 1195185	NM_000158.4(GBE1):c.467G>A (p.Arg156His)	GBE1 (R156H)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GUncertain significance
Select item 1217092	NM_000158.4(GBE1):c.430-302T>A	GBE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270790	NM_000158.4(GBE1):c.430-334G>C	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295905	NM_000158.4(GBE1):c.429+53G>T	GBE1	Single nucleotide variant (intron variant)	not provided	GBenign
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 733683	NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)	GBE1 (L117P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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