ClinVar Miner

List of variants in gene GBE1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.*226T>C
NM_000158.4(GBE1):c.*388T>A
NM_000158.4(GBE1):c.*395A>G rs138608612
NM_000158.4(GBE1):c.*44T>A
NM_000158.4(GBE1):c.*460C>T
NM_000158.4(GBE1):c.*466G>A rs571158601
NM_000158.4(GBE1):c.*468G>A
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*545G>C
NM_000158.4(GBE1):c.*555G>A rs143820392
NM_000158.4(GBE1):c.*558T>C rs886058899
NM_000158.4(GBE1):c.*598G>C rs886058898
NM_000158.4(GBE1):c.-6C>G
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
NM_000158.4(GBE1):c.1237-15C>T rs376809475
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1618+4A>G
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205
NM_000158.4(GBE1):c.313+15G>A rs184391304
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.429+5T>G
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
NM_000158.4(GBE1):c.692-6A>G
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly) rs1576183525
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)

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