ClinVar Miner

List of variants in gene GCK reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 79
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HGVS dbSNP
NM_000162.3(GCK):c.679+1delG rs193922320
NM_000162.3:c.46_679dup
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1003del (p.Val335fs) rs193922254
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) rs193922266
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) rs193922267
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1281_1282GC[1] (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.563C>T (p.Ala188Val) rs193922307
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) rs193922341
p.X466Trp

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