List of variants in gene GCK reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 91

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)	rs193922260	0.00001
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.787T>C (p.Ser263Pro)	rs193922331	0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)	rs193922340	0.00001
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.1018A>G (p.Ser340Gly)	rs193922255
NM_000162.5(GCK):c.1019+1G>T
NM_000162.5(GCK):c.1019+5G>A
NM_000162.5(GCK):c.1020-1G>C	rs193922258
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)	rs193922259
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)	rs193922261
NM_000162.5(GCK):c.109A>G (p.Met37Val)
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.113A>C (p.Gln38Pro)	rs1064794268
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.1163G>A (p.Gly388Asp)	rs2096271482
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.1174C>A (p.Arg392Ser)
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.1189C>G (p.Arg397Gly)
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.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)	rs193922274
NM_000162.5(GCK):c.1283_1284del (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.1322C>T (p.Ser441Leu)	rs1286804191
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.1354G>C (p.Val452Leu)
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.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.509_517dup (p.Lys172_Ala173insGlyPheLys)
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.629T>C (p.Met210Thr)	rs80356654
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.677T>C (p.Val226Ala)	rs193922319
NM_000162.5(GCK):c.679+1del	rs193922320
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.736G>A (p.Gly246Arg)	rs2096275721
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.812T>C (p.Leu271Pro)	rs193922332
NM_000162.5(GCK):c.833A>T (p.Asp278Val)	rs193922333
NM_000162.5(GCK):c.863+1G>A	rs1376796469
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
Single allele
p.X466Trp

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.