ClinVar for MedGen (Select 342338) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1364418	NM_000158.4(GBE1):c.1309A>G (p.Met437Val)	GBE1 (M437V)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GUncertain significance
Select item 1341396	NM_000158.4(GBE1):c.293T>G (p.Val98Gly)	GBE1 (V98G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
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 1341392	NM_000158.4(GBE1):c.955C>T (p.His319Tyr)	GBE1 (H319Y)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 1341388	NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)	GBE1 (M495T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
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 1199311	NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn)	GBE1 (D572N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1199310	NM_000158.4(GBE1):c.-4G>A	GBE1	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 1195185	NM_000158.4(GBE1):c.467G>A (p.Arg156His)	GBE1 (R156H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GUncertain significance
Select item 1183062	NM_000158.4(GBE1):c.-35dup	GBE1	Duplication (5 prime UTR variant)	Glycogen storage disease, type IV +2 more	GBenign
Select item 1174028	NM_000158.4(GBE1):c.-102C>T	GBE1	Single nucleotide variant (5 prime UTR variant)	Adult polyglucosan body disease +2 more	GBenign/Likely benign
Select item 1174027	NM_000158.4(GBE1):c.-57G>A	GBE1	Single nucleotide variant (5 prime UTR variant)	Adult polyglucosan body disease +2 more	GBenign
Select item 1168034	NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)	GBE1 (I334V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +2 more	GBenign
Select item 903646	NM_000158.4(GBE1):c.*44T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 903581	NM_000158.4(GBE1):c.*545G>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 902798	NM_000158.4(GBE1):c.-6C>G	GBE1	Single nucleotide variant (5 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 902732	NM_000158.4(GBE1):c.556-6C>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 902665	NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)	GBE1 (D357G)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 901896	NM_000158.4(GBE1):c.23C>T (p.Ala8Val)	GBE1 (A8V)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GUncertain significance
Select item 901828	NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)	GBE1 (N222S)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +2 more	GUncertain significance
Select item 901759	NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)	GBE1 (V485A)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 901695	NM_000158.4(GBE1):c.*226T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 901280	NM_000158.4(GBE1):c.692-6A>G	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 901210	NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)	GBE1 (S559I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 901150	NM_000158.4(GBE1):c.*388T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 901149	NM_000158.4(GBE1):c.*460C>T	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 900179	NM_000158.4(GBE1):c.203A>T (p.Lys68Met)	GBE1 (K68M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 900115	NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)	GBE1 (E333G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 900054	NM_000158.4(GBE1):c.1842T>A (p.Ile614=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +2 more	GConflicting classifications of pathogenicity
Select item 899981	NM_000158.4(GBE1):c.*468G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 899980	NM_000158.4(GBE1):c.*494A>T	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GBenign
Select item 899979	NM_000158.4(GBE1):c.*523T>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GBenign
Select item 756651	NM_000158.4(GBE1):c.969T>C (p.Asp323=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +2 more	GConflicting classifications of pathogenicity
Select item 740285	NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)	GBE1 (A214T)	Single nucleotide variant (missense variant)	GBE1-related disorder +4 more	GBenign/Likely benign
Select item 709076	NM_000158.4(GBE1):c.1713C>T (p.Asp571=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 624031	NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)	GBE1 (N626S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 577677	NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)	GBE1 (E609K)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +4 more	GConflicting classifications of pathogenicity
Select item 548007	NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)	GBE1 (E498K)	Single nucleotide variant (missense variant)	not provided +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 526615	NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)	GBE1 (L663P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 520678	NM_000158.4(GBE1):c.292G>C (p.Val98Leu)	GBE1 (V98L)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +3 more	GUncertain significance
Select item 515221	NM_000158.4(GBE1):c.45G>A (p.Glu15=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +4 more	GConflicting classifications of pathogenicity
Select item 456517	NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)	GBE1 (R524G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +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)	Adult polyglucosan body disease +4 more	GConflicting classifications of pathogenicity
Select item 441107	NM_000158.4(GBE1):c.15G>A (p.Met5Ile)	GBE1 (M5I)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +5 more	GConflicting classifications of pathogenicity
Select item 437422	NM_000158.4(GBE1):c.785G>A (p.Arg262His)	GBE1 (R262H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +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)	Glycogen storage disease IV, classic hepatic +6 more	GConflicting classifications of pathogenicity
Select item 390895	NM_000158.4(GBE1):c.313+15G>A	GBE1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 381417	NM_000158.4(GBE1):c.143+11A>C	GBE1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 380492	NM_000158.4(GBE1):c.24G>A (p.Ala8=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +4 more	GBenign/Likely benign
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 371439	NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)	GBE1 (Y329C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GConflicting classifications of pathogenicity
Select item 346798	NM_000158.3(GBE1):c.-195G>T	GBE1	Single nucleotide variant	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 346797	NM_000158.4(GBE1):c.-101C>T	GBE1	Single nucleotide variant (5 prime UTR variant)	Adult polyglucosan body disease +1 more	GLikely benign
Select item 346796	NM_000158.4(GBE1):c.144-7T>C	GBE1	Single nucleotide variant (intron variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346795	NM_000158.4(GBE1):c.405C>T (p.Leu135=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +4 more	GBenign/Likely benign
Select item 346794	NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)	GBE1 (Y216C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346793	NM_000158.4(GBE1):c.721A>G (p.Met241Val)	GBE1 (M241V)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +3 more	GConflicting classifications of pathogenicity
Select item 346792	NM_000158.4(GBE1):c.859G>C (p.Val287Leu)	GBE1 (V287L)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GBenign
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 346790	NM_000158.4(GBE1):c.1392C>T (p.Leu464=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
Select item 346789	NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)	GBE1 (Y469C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 346788	NM_000158.4(GBE1):c.1581G>A (p.Thr527=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +3 more	GConflicting classifications of pathogenicity
Select item 346786	NM_000158.4(GBE1):c.1803G>A (p.Gln601=)	GBE1	Single nucleotide variant (synonymous variant)	Adult polyglucosan body disease +2 more	GUncertain significance
Select item 346784	NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)	GBE1 (F625C)	Single nucleotide variant (missense variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346783	NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)	GBE1 (R679C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GConflicting classifications of pathogenicity
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 346781	NM_000158.4(GBE1):c.*176G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 346779	NM_000158.4(GBE1):c.*395A>G	GBE1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease, type IV +1 more	GUncertain significance
Select item 346778	NM_000158.4(GBE1):c.*466G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346777	NM_000158.4(GBE1):c.*494A>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346776	NM_000158.4(GBE1):c.*555G>A	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346775	NM_000158.4(GBE1):c.*558T>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 346774	NM_000158.4(GBE1):c.*598G>C	GBE1	Single nucleotide variant (3 prime UTR variant)	Adult polyglucosan body disease +1 more	GUncertain significance
Select item 255392	NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)	GBE1 (G280D)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 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 +3 more	GBenign
Select item 255388	NM_000158.4(GBE1):c.342C>T (p.Tyr114=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 255386	NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)	GBE1 (I59T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GBenign
Select item 255385	NM_000158.4(GBE1):c.1716C>T (p.Asp572=)	GBE1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 255383	NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)	GBE1 (T507A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255382	NM_000158.4(GBE1):c.143+10G>T	GBE1	Single nucleotide variant (intron variant)	Glycogen storage disease, type IV +3 more	GBenign
Select item 255381	NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)	GBE1 (P40T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +4 more	GBenign/Likely benign
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 225145	NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT	GBE1	Indel (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 197636	NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)	GBE1 (R190G)	Single nucleotide variant (missense variant)	Glycogen storage disease, type IV +3 more	GBenign
Select item 180651	NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	GBE1 (R515H)	Single nucleotide variant (missense variant)	Glycogen storage disease IV, classic hepatic +5 more	GPathogenic/Likely pathogenic
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 2781	NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)	GBE1 (R524*)	Single nucleotide variant (nonsense)	Glycogen storage disease IV, classic hepatic +3 more	GPathogenic/Likely pathogenic
Select item 2777	NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	GBE1 (Y329S)	Single nucleotide variant (missense variant)	GBE1-related disorder +4 more	GPathogenic

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Items: 93