ClinVar Miner

List of variants in gene GCK reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP
GCK, IVS4DS, 15-BP DEL
GCK, VAL91LEU
NC_000007.13:g.44192960G>A
NM_000162.3(GCK):c.1003delG (p.Val335Cysfs) rs193922254
NM_000162.3(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.3(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.3(GCK):c.1019+2T>G rs193929376
NM_000162.3(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.3(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.3(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.3(GCK):c.1163dupG (p.Val389Argfs) rs886042015
NM_000162.3(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.3(GCK):c.1253+2T>A rs1057524902
NM_000162.3(GCK):c.1361_1363dup (p.Ala454_Val455insAla) rs1554334433
NM_000162.3(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.3(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.3(GCK):c.148dupC (p.His50Profs) rs886041690
NM_000162.3(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.3(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.3(GCK):c.208+1G>A rs1554335913
NM_000162.3(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.3(GCK):c.295T>C (p.Trp99Arg) rs1554335751
NM_000162.3(GCK):c.364-1G>A rs1057521094
NM_000162.3(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.3(GCK):c.431delT (p.Leu144Argfs) rs1064796410
NM_000162.3(GCK):c.435_436dupCC (p.Leu146Profs) rs1064793428
NM_000162.3(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.3(GCK):c.483+2T>C rs1554335564
NM_000162.3(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.3(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.3(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.3(GCK):c.571C>T (p.Arg191Trp) rs1085307455
NM_000162.3(GCK):c.580-1G>A rs1554335421
NM_000162.3(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.3(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.3(GCK):c.641A>G (p.Tyr214Cys) rs104894015
NM_000162.3(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.3(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.3(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.3(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.3(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.3(GCK):c.678_679+2del rs1554335391
NM_000162.3(GCK):c.680-1G>A rs1057524905
NM_000162.3(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.3(GCK):c.706G>A (p.Glu236Lys) rs587780347
NM_000162.3(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.3(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.3(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.3(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.3(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.3(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.3(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.3(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000162.3(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.3(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000162.4(GCK):c.1020-1G>A rs193922258
NM_000162.4(GCK):c.1054del (p.Leu352Terfs)
NM_000162.4(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000162.4(GCK):c.1155dup (p.Leu386Alafs) rs1400535021
NM_000162.4(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.4(GCK):c.127C>T (p.Arg43Cys)
NM_000162.4(GCK):c.1327G>T (p.Glu443Ter)
NM_000162.4(GCK):c.291del (p.Gln98Serfs)
NM_000162.4(GCK):c.440del (p.Gly147Alafs) rs1554335585
NM_000162.4(GCK):c.46-2A>G rs1554335966
NM_000162.4(GCK):c.608T>C (p.Val203Ala)
NM_000162.4(GCK):c.680-2A>G
NM_000162.4(GCK):c.686del (p.Gly229Alafs) rs1554335164
NM_000162.4(GCK):c.763_779dup (p.Phe260Leufs) rs1554335128
NM_000162.4(GCK):c.769T>C (p.Trp257Arg) rs1554335135
NM_000162.4(GCK):c.781G>C (p.Gly261Arg) rs104894008
NM_000162.4(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.4(GCK):c.863+1G>A
NM_000162.4(GCK):c.952G>A (p.Gly318Arg)
NM_000162.4(GCK):c.98T>C (p.Val33Ala)
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)
NM_000162.5(GCK):c.45+1G>T
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000162.5(GCK):c.770G>A (p.Trp257Ter)
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_033507.1(GCK):c.174G>T (p.Met58Ile) rs1057520109
NM_033507.1(GCK):c.320_336del (p.Gln107Argfs) rs797045595
NM_033507.2(GCK):c.298del (p.Trp100Glyfs) rs1554335752
NM_033507.2(GCK):c.488del (p.Gly163Alafs) rs1246464603

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.