List of variants in gene GCK reported as likely pathogenic by GeneDx

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: 53

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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.757G>A (p.Val253Ile)	rs748964205	0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)	rs193922331	0.00001
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC	rs2096270755
NM_000162.5(GCK):c.1020-33_1025del
NM_000162.5(GCK):c.1099G>A (p.Val367Met)	rs1057521092
NM_000162.5(GCK):c.1130G>A (p.Arg377His)	rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)	rs1131691505
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)	rs1064794268
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)	rs749298368
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)	rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs)	rs1400535021
NM_000162.5(GCK):c.115_117del (p.Lys39del)	rs2096283216
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>G (p.Arg392Gly)	rs1167124132
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)	rs1167124132
NM_000162.5(GCK):c.122T>C (p.Met41Thr)	rs1057524906
NM_000162.5(GCK):c.128G>A (p.Arg43His)	rs764232985
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)	rs267601516
NM_000162.5(GCK):c.1339del (p.Arg447fs)	rs1064795242
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)	rs1131691416
NM_000162.5(GCK):c.134T>C (p.Leu45Pro)	rs1131691598
NM_000162.5(GCK):c.1351del (p.Leu451fs)
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	rs1057524900
NM_000162.5(GCK):c.171G>A (p.Met57Ile)	rs1057520109
NM_000162.5(GCK):c.175C>G (p.Pro59Ala)	rs193922287
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)	rs2128823091
NM_000162.5(GCK):c.238G>A (p.Gly80Ser)	rs1554335761
NM_000162.5(GCK):c.25G>T (p.Glu9Ter)	rs1131691483
NM_000162.5(GCK):c.322T>C (p.Tyr108His)	rs193922292
NM_000162.5(GCK):c.364-1G>A	rs1057521094
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)	rs1554335570
NM_000162.5(GCK):c.475A>G (p.Ile159Val)	rs1319364468
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)	rs2096278847
NM_000162.5(GCK):c.562G>C (p.Ala188Pro)
NM_000162.5(GCK):c.564_567dup (p.Lys190fs)	rs2128821589
NM_000162.5(GCK):c.59T>C (p.Leu20Pro)
NM_000162.5(GCK):c.635_637del (p.Ser212del)	rs193922314
NM_000162.5(GCK):c.667G>C (p.Gly223Arg)
NM_000162.5(GCK):c.680G>A (p.Gly227Asp)	rs2128820681
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)	rs794727839
NM_000162.5(GCK):c.703A>G (p.Met235Val)	rs1057521093
NM_000162.5(GCK):c.730G>A (p.Val244Met)	rs1240035630
NM_000162.5(GCK):c.757G>T (p.Val253Phe)	rs748964205
NM_000162.5(GCK):c.760A>C (p.Asn254His)	rs193922327
NM_000162.5(GCK):c.762T>A (p.Asn254Lys)	rs1554335141
NM_000162.5(GCK):c.766G>C (p.Glu256Gln)	rs769268803
NM_000162.5(GCK):c.772G>A (p.Gly258Ser)	rs1583596378
NM_000162.5(GCK):c.871A>G (p.Lys291Glu)	rs193922335

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