List of variants in gene GCK reported as 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: 61

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)	rs1085307455	0.00001
NM_000162.5(GCK):c.580-1G>A	rs1554335421	0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met)	rs148311934	0.00001
NM_000162.5(GCK):c.1003del (p.Val335fs)	rs193922254
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)	rs1057524903
NM_000162.5(GCK):c.1019+2T>G	rs193929376
NM_000162.5(GCK):c.1072C>T (p.Arg358Ter)	rs780716926
NM_000162.5(GCK):c.1092C>A (p.Cys364Ter)
NM_000162.5(GCK):c.1136C>T (p.Ala379Val)	rs193922265
NM_000162.5(GCK):c.1163dup (p.Val389fs)	rs886042015
NM_000162.5(GCK):c.1178T>C (p.Met393Thr)	rs2096271425
NM_000162.5(GCK):c.1210_1211del (p.Ile404fs)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)	rs193922272
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)	rs1486280029
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)	rs1286804191
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	rs193922283
NM_000162.5(GCK):c.140dup (p.Glu48fs)	rs2128823146
NM_000162.5(GCK):c.148del (p.His50fs)	rs886041690
NM_000162.5(GCK):c.148dup (p.His50fs)	rs886041690
NM_000162.5(GCK):c.175C>T (p.Pro59Ser)	rs193922287
NM_000162.5(GCK):c.184G>A (p.Val62Met)	rs1064793998
NM_000162.5(GCK):c.208+1G>A	rs1554335913
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	rs193922289
NM_000162.5(GCK):c.295T>C (p.Trp99Arg)	rs1554335751
NM_000162.5(GCK):c.364-1G>A	rs1057521094
NM_000162.5(GCK):c.431del (p.Leu144fs)	rs1064796410
NM_000162.5(GCK):c.435_436dup (p.Leu146fs)	rs1064793428
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)	rs193922297
NM_000162.5(GCK):c.483+2T>C	rs1554335564
NM_000162.5(GCK):c.483+2_483+16del	rs1583601110
NM_000162.5(GCK):c.500G>A (p.Trp167Ter)
NM_000162.5(GCK):c.529_536del (p.Glu177fs)	rs2484524110
NM_000162.5(GCK):c.533G>A (p.Gly178Glu)	rs886039380
NM_000162.5(GCK):c.544G>A (p.Val182Met)	rs587780345
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)	rs104894006
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)	rs751279776
NM_000162.5(GCK):c.564_567dup (p.Lys190fs)	rs2128821589
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)	rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)	rs794727775
NM_000162.5(GCK):c.609_610del (p.Val203_Asn204insTer)	rs2484522876
NM_000162.5(GCK):c.613G>C (p.Asp205His)	rs2484522855
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)	rs587780346
NM_000162.5(GCK):c.617C>T (p.Thr206Met)	rs1441649062
NM_000162.5(GCK):c.629T>C (p.Met210Thr)	rs80356654
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)	rs144723656
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)	rs144723656
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)	rs142952813
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	rs1360415315
NM_000162.5(GCK):c.675C>G (p.Ile225Met)	rs772754004
NM_000162.5(GCK):c.679+1G>A	rs2128821468
NM_000162.5(GCK):c.680-2A>G	rs1562715657
NM_000162.5(GCK):c.683C>T (p.Thr228Met)	rs80356655
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	rs769268803
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)	rs193922329
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)	rs1375656631
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)	rs104894008
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)	rs104894011
NM_000162.5(GCK):c.863+1G>C
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)	rs193922335
NM_000162.5(GCK):c.904G>C (p.Val302Leu)	rs1583594501
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)	rs193922340

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