ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
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.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1339del (p.Arg447fs) rs1064795242
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
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.364-1G>A rs1057521094
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
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>A (p.Val253Ile) rs748964205
NM_000162.5(GCK):c.757G>T (p.Val253Phe) rs748964205
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.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335

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.