ClinVar Miner

List of variants in gene GBE1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_000158.4(GBE1):c.*308C>T rs141214861
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.-102C>T
NM_000158.4(GBE1):c.1011C>T (p.Phe337=) rs916259056
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
NM_000158.4(GBE1):c.1080G>A (p.Thr360=) rs200645261
NM_000158.4(GBE1):c.108G>A (p.Pro36=) rs775188750
NM_000158.4(GBE1):c.1108+8A>T
NM_000158.4(GBE1):c.1108+8del
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1200T>C (p.Val400=) rs1464112150
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.143+9G>A rs1267149365
NM_000158.4(GBE1):c.1447-4G>C
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1619-9G>A
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) rs544821452
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1935-10A>G
NM_000158.4(GBE1):c.1935-7G>T rs1474858058
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
NM_000158.4(GBE1):c.2028T>C (p.His676=)
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.2053-3351G>A
NM_000158.4(GBE1):c.2053-4G>C
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188
NM_000158.4(GBE1):c.211A>C (p.Arg71=) rs1576206635
NM_000158.4(GBE1):c.231C>T (p.Gly77=) rs375359843
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
NM_000158.4(GBE1):c.313+8C>G
NM_000158.4(GBE1):c.313+9T>C rs772444966
NM_000158.4(GBE1):c.314-8T>A
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
NM_000158.4(GBE1):c.33C>G (p.Pro11=) rs773585404
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296
NM_000158.4(GBE1):c.351G>T (p.Leu117=) rs749666538
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.432A>G (p.Val144=)
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
NM_000158.4(GBE1):c.492G>A (p.Val164=)
NM_000158.4(GBE1):c.552T>C (p.Tyr184=) rs1576185089
NM_000158.4(GBE1):c.556-4G>A
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.556-9A>G
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
NM_000158.4(GBE1):c.609T>C (p.His203=)
NM_000158.4(GBE1):c.627T>C (p.His209=)
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.648T>C (p.Tyr216=) rs1295929595
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
NM_000158.4(GBE1):c.669A>G (p.Val223=)
NM_000158.4(GBE1):c.75G>A (p.Val25=)
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
NM_000158.4(GBE1):c.78C>G (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
NM_000158.4(GBE1):c.807A>G (p.Leu269=) rs760271506
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
NM_000158.4(GBE1):c.924C>T (p.Ser308=) rs765783805
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.987C>T (p.Tyr329=) rs573055138
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000158.4(GBE1):c.992+8C>T
NM_000158.4(GBE1):c.993-9A>T

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