List of variants in gene GCK reported as likely pathogenic for Maturity onset diabetes mellitus in young

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: 93

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.676G>A (p.Val226Met)	rs148311934	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.1018A>G (p.Ser340Gly)	rs193922255
NM_000162.5(GCK):c.1019+20G>A
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn)	rs1376631949
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)
NM_000162.5(GCK):c.1020-1G>A	rs193922258
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)	rs864321656
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)	rs1583592247
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)	rs193922259
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)	rs1583592156
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)	rs1064793134
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)	rs193922263
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)	rs1131691505
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)	rs193922265
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)	rs1554334613
NM_000162.5(GCK):c.1148del (p.Ser383fs)	rs2096271597
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)	rs1583591747
NM_000162.5(GCK):c.1163dup (p.Val389fs)	rs886042015
NM_000162.5(GCK):c.1190_1253+11dup
NM_000162.5(GCK):c.1235T>G (p.Val412Gly)	rs1554334539
NM_000162.5(GCK):c.1247A>C (p.His416Pro)	rs1583591303
NM_000162.5(GCK):c.1253+2T>G	rs1057524902
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)	rs1554334478
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)	rs193922277
NM_000162.5(GCK):c.128G>A (p.Arg43His)	rs764232985
NM_000162.5(GCK):c.148C>T (p.His50Tyr)	rs1562719705
NM_000162.5(GCK):c.148dup (p.His50fs)	rs886041690
NM_000162.5(GCK):c.171G>A (p.Met57Ile)	rs1057520109
NM_000162.5(GCK):c.207A>G (p.Ser69=)	rs779548342
NM_000162.5(GCK):c.208+15C>G
NM_000162.5(GCK):c.208G>C (p.Glu70Gln)
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	rs193922289
NM_000162.5(GCK):c.291del (p.Gln98fs)	rs1562719029
NM_000162.5(GCK):c.295del (p.Trp99fs)	rs1554335752
NM_000162.5(GCK):c.317_333del (p.Gln106fs)	rs797045595
NM_000162.5(GCK):c.364-1G>A	rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs)	rs193922295
NM_000162.5(GCK):c.397T>C (p.Phe133Leu)	rs2128822093
NM_000162.5(GCK):c.431del (p.Leu144fs)	rs1064796410
NM_000162.5(GCK):c.440del (p.Gly147fs)	rs1554335585
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)	rs193922300
NM_000162.5(GCK):c.46-2A>G	rs1554335966
NM_000162.5(GCK):c.466C>T (p.His156Tyr)	rs1562718043
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)	rs1554335570
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
NM_000162.5(GCK):c.483+2T>C	rs1554335564
NM_000162.5(GCK):c.483+2_483+16del	rs1583601110
NM_000162.5(GCK):c.484-11_484-6del
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)	rs2096278847
NM_000162.5(GCK):c.499T>G (p.Trp167Gly)	rs1481197092
NM_000162.5(GCK):c.523G>A (p.Gly175Arg)	rs587780344
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)	rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala)	rs193922306
NM_000162.5(GCK):c.566T>C (p.Ile189Thr)	rs1554335441
NM_000162.5(GCK):c.579+4del
NM_000162.5(GCK):c.579G>T (p.Gly193=)	rs2128821570
NM_000162.5(GCK):c.580-1G>C
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)	rs587780346
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.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)	rs144723656
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)	rs193922316
NM_000162.5(GCK):c.666del (p.Gly223fs)	rs2096278285
NM_000162.5(GCK):c.677T>G (p.Val226Gly)
NM_000162.5(GCK):c.678_679+2del	rs1554335391
NM_000162.5(GCK):c.679+1del	rs193922320
NM_000162.5(GCK):c.679+5G>A
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
NM_000162.5(GCK):c.680-15C>A	rs369345791
NM_000162.5(GCK):c.680-1G>A	rs1057524905
NM_000162.5(GCK):c.680-2A>G	rs1562715657
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys)	rs1562715620
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	rs1057524904
NM_000162.5(GCK):c.769T>C (p.Trp257Arg)	rs1554335135
NM_000162.5(GCK):c.776C>T (p.Ala259Val)	rs1554335132
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)	rs193922330
NM_000162.5(GCK):c.833A>T (p.Asp278Val)	rs193922333
NM_000162.5(GCK):c.863+3A>G	rs193922334
NM_000162.5(GCK):c.863+5G>A
NM_000162.5(GCK):c.868G>A (p.Glu290Lys)	rs1487194256
NM_000162.5(GCK):c.883G>A (p.Gly295Ser)	rs1554334905
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)	rs193922336
NM_000162.5(GCK):c.914T>G (p.Val305Gly)	rs2096273846
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)	rs1554334872
NM_000162.5(GCK):c.995C>T (p.Thr332Met)	rs770231054
NM_033507.2(GCK):c.488del	rs1246464603

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