ClinVar Miner

List of variants in gene GCK reported as pathogenic for monogenic diabetes

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694 0.00003
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.580-1G>A rs1554335421 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) rs1281712444 0.00001
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) rs556436603 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) rs1057524903
NM_000162.5(GCK):c.1019+1G>A
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+2T>C
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs)
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) rs1562713041
NM_000162.5(GCK):c.1072C>T (p.Arg358Ter)
NM_000162.5(GCK):c.1077del (p.Ser360fs)
NM_000162.5(GCK):c.1083dup (p.Thr362fs)
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.110T>G (p.Met37Arg)
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) rs556581174
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) rs1471992838
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1139A>C (p.His380Pro) rs2128819280
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
NM_000162.5(GCK):c.1142T>C (p.Met381Thr)
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) rs2096271616
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) rs1583591809
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1148del (p.Ser383fs) rs2096271597
NM_000162.5(GCK):c.1156C>G (p.Leu386Val) rs1583591700
NM_000162.5(GCK):c.1156del (p.Leu386fs)
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1159G>A (p.Ala387Thr)
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.5(GCK):c.118G>T (p.Glu40Ter)
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.1226del (p.Asp409fs)
NM_000162.5(GCK):c.1228G>A (p.Gly410Ser)
NM_000162.5(GCK):c.1228G>C (p.Gly410Arg) rs2128819136
NM_000162.5(GCK):c.1228G>T (p.Gly410Cys)
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.1234G>A (p.Val412Met)
NM_000162.5(GCK):c.1235T>A (p.Val412Glu)
NM_000162.5(GCK):c.1235T>C (p.Val412Ala)
NM_000162.5(GCK):c.1235T>G (p.Val412Gly) rs1554334539
NM_000162.5(GCK):c.1239C>G (p.Tyr413Ter)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1240A>T (p.Lys414Ter)
NM_000162.5(GCK):c.1247A>G (p.His416Arg)
NM_000162.5(GCK):c.1253+1G>C
NM_000162.5(GCK):c.1253+2T>A rs1057524902
NM_000162.5(GCK):c.1254-12_1257del
NM_000162.5(GCK):c.1254-1G>C
NM_000162.5(GCK):c.1254-1G>T
NM_000162.5(GCK):c.1254-20_1312del rs2096270578
NM_000162.5(GCK):c.1254-2A>G
NM_000162.5(GCK):c.1256del (p.Phe419fs)
NM_000162.5(GCK):c.1261G>T (p.Glu421Ter)
NM_000162.5(GCK):c.1261del (p.Glu421fs)
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) rs2128818859
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
NM_000162.5(GCK):c.1302C>A (p.Cys434Ter)
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.1309_1310del (p.Thr437fs)
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter)
NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs)
NM_000162.5(GCK):c.1322C>A (p.Ser441Ter)
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) rs1562711915
NM_000162.5(GCK):c.1335_1345del (p.Arg447fs)
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1339dup (p.Arg447fs)
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.1343del (p.Gly448fs)
NM_000162.5(GCK):c.1344del (p.Ala449fs) rs1057524901
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1346_1362del (p.Ala449fs)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1360del (p.Ala454fs) rs1583590393
NM_000162.5(GCK):c.1373_1376del (p.Lys458fs)
NM_000162.5(GCK):c.1378del (p.Ala460fs)
NM_000162.5(GCK):c.137G>T (p.Arg46Met) rs1064796993
NM_000162.5(GCK):c.1398A>T (p.Ter466Cys)
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.208+2T>C rs2128823089
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.209-1G>A
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.214G>C (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.232G>A (p.Asp78Asn)
NM_000162.5(GCK):c.232G>C (p.Asp78His)
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000162.5(GCK):c.234C>G (p.Asp78Glu)
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) rs1131691483
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) rs2096281776
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.296G>A (p.Trp99Ter)
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.322T>C (p.Tyr108His) rs193922292
NM_000162.5(GCK):c.324C>A (p.Tyr108Ter)
NM_000162.5(GCK):c.351_358del (p.Thr118fs)
NM_000162.5(GCK):c.363+1G>A
NM_000162.5(GCK):c.363+2T>A
NM_000162.5(GCK):c.363+2T>C
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) rs1583601365
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.424A>T (p.Lys142Ter)
NM_000162.5(GCK):c.437T>C (p.Leu146Pro)
NM_000162.5(GCK):c.445dup (p.Thr149fs)
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.449_451del (p.Phe150del)
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000162.5(GCK):c.452_454del (p.Ser151del)
NM_000162.5(GCK):c.454T>A (p.Phe152Ile)
NM_000162.5(GCK):c.454T>C (p.Phe152Leu) rs2096280050
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.46-2A>G rs1554335966
NM_000162.5(GCK):c.46-2A>T
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.469G>T (p.Glu157Ter)
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.483+1G>A
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.484-2A>G
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.502A>C (p.Thr168Pro)
NM_000162.5(GCK):c.502A>G (p.Thr168Ala)
NM_000162.5(GCK):c.503C>A (p.Thr168Asn)
NM_000162.5(GCK):c.503C>T (p.Thr168Ile) rs2096278825
NM_000162.5(GCK):c.521C>T (p.Ser174Leu)
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.523G>C (p.Gly175Arg)
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) rs886039380
NM_000162.5(GCK):c.53del (p.Gln18fs)
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.551T>C (p.Leu184Pro) rs2128821610
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) rs104894006
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.564_567dup (p.Lys190fs) rs2128821589
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.579+1G>A
NM_000162.5(GCK):c.579+4del
NM_000162.5(GCK):c.579G>T (p.Gly193=) rs2128821570
NM_000162.5(GCK):c.580-13_580-1del
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.605T>G (p.Met202Arg)
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.616dup (p.Thr206fs)
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>A (p.Met210Ile)
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.656del (p.Gln219fs)
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.679+1G>A rs2128821468
NM_000162.5(GCK):c.679+1G>C
NM_000162.5(GCK):c.679G>A (p.Gly227Ser)
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.680-6C>G
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) rs1332966015
NM_000162.5(GCK):c.683C>A (p.Thr228Lys)
NM_000162.5(GCK):c.683C>G (p.Thr228Arg)
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.686del (p.Gly229fs) rs1554335164
NM_000162.5(GCK):c.689G>A (p.Cys230Tyr)
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.739del (p.Asp247fs)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.751A>G (p.Met251Val) rs2128820620
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) rs1562715426
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) rs2128820597
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) rs1375656631
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.781G>C (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.782G>A (p.Gly261Glu)
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.800dup (p.Asp267fs)
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) rs1554335111
NM_000162.5(GCK):c.810_814del (p.Leu271fs)
NM_000162.5(GCK):c.814G>T (p.Glu272Ter)
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) rs1562715296
NM_000162.5(GCK):c.821A>C (p.Asp274Ala)
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.864-1G>A rs1167675604
NM_000162.5(GCK):c.864-1G>C
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) rs1192394824
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.881G>A (p.Gly294Asp)
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) rs2096273902
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000162.5(GCK):c.898G>C (p.Glu300Gln)
NM_000162.5(GCK):c.905del (p.Val302fs)
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.924del (p.Arg308fs)
NM_000162.5(GCK):c.940del (p.Leu314fs)
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000162.5(GCK):c.944T>A (p.Leu315His) rs193922338
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
NM_000162.5(GCK):c.976A>C (p.Thr326Pro)
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)

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.