ClinVar Miner

List of variants in gene GBE1 reported as pathogenic for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter) rs1328296506 0.00001
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter) rs559653237 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NC_000003.11:g.(?_81539548)_(81699082_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81539558)_(81643194_?)del
NC_000003.11:g.(?_81539558)_(81720124_?)del
NC_000003.11:g.(?_81542964)_(81586266_?)del
NC_000003.11:g.(?_81584326)_(81586266_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81720124_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81627066)_(81643184_?)del
NC_000003.11:g.(?_81627066)_(81754774_?)del
NC_000003.11:g.(?_81691912)_(81810668_?)del
NC_000003.11:g.(?_81691922)_(81699082_?)del
NC_000003.11:g.(?_81691922)_(81754774_?)del
NC_000003.11:g.(?_81695533)_(81695643_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter) rs773381709
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter) rs2106957076
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter) rs1703799803
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs) rs2106938660
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) rs1703726090
NM_000158.4(GBE1):c.1403del (p.Arg468fs) rs2106938514
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.144-1G>C
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter) rs1703673227
NM_000158.4(GBE1):c.149del (p.Lys50fs) rs2107169014
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1569del (p.Arg524fs)
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs) rs1412857849
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer) rs2106869587
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs) rs2106809957
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs) rs1705761854
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.26del (p.Ala9fs)
NM_000158.4(GBE1):c.274del (p.Ala92fs)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.317del (p.Gly106fs) rs2107114812
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.348dup (p.Leu117fs)
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter) rs774709930
NM_000158.4(GBE1):c.466_470del (p.Arg156fs) rs2107074878
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.608_609del (p.His203fs)
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
NM_000158.4(GBE1):c.691+1G>A
NM_000158.4(GBE1):c.691+1G>T
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer) rs2107059792
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter) rs1559673456
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.