Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:6835
Name:Maturity-Onset Diabetes of the Young, Type 2
Definition:
Alternative IDs:OMIM:125851
ParentIDs:MESH:D003924
TreeNumbers:C18.452.394.750.149/C564219 |C19.246.300/C564219
Synonyms:MODY2 |MODY, Glucokinase-Related |MODY, GLUCOKINASE-RELATED DIABETES, GESTATIONAL, INCLUDED |MODY, Type 2
Slim Mappings:Endocrine system disease|Metabolic disease
Reference: MedGen: C564219
MeSH: C564219
OMIM: 125851;

Genes: GCK;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0004904Maturity-onset diabetes of the young
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000162.3(GCK):c.1386G>T (p.Met462Ile)2645GCKLikely pathogenic193922285RCV000029865; NMedGen:C1841962,OMIM:12585174418474744184747NM_000162.3:c.1386G>TNP_000153.1:p.Met462IleNC_000007.13:g.44184747C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1372_1373delAA (p.Lys458Glufs)2645GCKLikely pathogenic193922284RCV000029864; NMedGen:C1841962,OMIM:12585174418476044184761NM_000162.3:c.1372_1373delAANP_000153.1:p.Lys458GlufsNC_000007.13:g.44184760_44184761delTT-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1279_1358del80insTTACA (p.Val427_Ser453delinsLeuGln)2645GCKLikely pathogenic193922274RCV000029853; NMedGen:C1841962,OMIM:12585174418477544184854NM_000162.3:c.1279_1358del80insTTACANP_000153.1:p.Val427_Ser453delinsLeuGlnNC_000007.13:g.44184775_44184854del80insTGTAA-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1358C>T (p.Ser453Leu)2645GCKLikely pathogenic193922283RCV000029863; NMedGen:C1841962,OMIM:12585174418477544184775NM_000162.3:c.1358C>TNP_000153.1:p.Ser453LeuNC_000007.13:g.44184775G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1345G>A (p.Ala449Thr)2645GCKLikely pathogenic193922282RCV000029862; NMedGen:C1841962,OMIM:12585174418478844184788NM_000162.3:c.1345G>ANP_000153.1:p.Ala449ThrNC_000007.13:g.44184788C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1339C>G (p.Arg447Gly)2645GCKLikely pathogenic193922281RCV000029861; NMedGen:C1841962,OMIM:12585174418479444184794NM_000162.3:c.1339C>GNP_000153.1:p.Arg447GlyNC_000007.13:g.44184794G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1332delC (p.Ser445Valfs)2645GCKLikely pathogenic193922280RCV000029860; NMedGen:C1841962,OMIM:12585174418480144184801NM_000162.3:c.1332delCNP_000153.1:p.Ser445ValfsNC_000007.13:g.44184801delG-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1307T>A (p.Ile436Asn)2645GCKLikely pathogenic193922278RCV000029858; NMedGen:C1841962,OMIM:12585174418482644184826NM_000162.3:c.1307T>ANP_000153.1:p.Ile436AsnNC_000007.13:g.44184826A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1289T>C (p.Leu430Pro)2645GCKLikely pathogenic193922277RCV000029857; NMedGen:C1841962,OMIM:12585174418484444184844NM_000162.3:c.1289T>CNP_000153.1:p.Leu430ProNC_000007.13:g.44184844A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1288C>T (p.Leu430=)2645GCKLikely benign193922276RCV000029856; NMedGen:C1841962,OMIM:12585174418484544184845NM_000162.3:c.1288C>TNP_000153.1:p.Leu430=NC_000007.13:g.44184845G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1285A>C (p.Arg429=)2645GCKLikely benign140672134RCV000029855; NMedGen:C1841962,OMIM:12585174418484844184848NM_000162.3:c.1285A>CNP_000153.1:p.Arg429=NC_000007.13:g.44184848T>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1283_1284delGC (p.Arg428Glnfs)2645GCKLikely pathogenic193922275RCV000029854; NMedGen:C1841962,OMIM:12585174418484944184850NM_000162.3:c.1283_1284delGCNP_000153.1:p.Arg428GlnfsNC_000007.13:g.44184849_44184850delGC-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1268T>A (p.Phe423Tyr)2645GCKLikely pathogenic193922273RCV000029852; NMedGen:C1841962,OMIM:12585174418486544184865NM_000162.3:c.1268T>ANP_000153.1:p.Phe423TyrNC_000007.13:g.44184865A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1240A>G (p.Lys414Glu)2645GCKLikely pathogenic193922272RCV000029851; NMedGen:C1841962,OMIM:12585174418510944185109NM_000162.3:c.1240A>GNP_000153.1:p.Lys414GluNC_000007.13:g.44185109T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1207C>G (p.Arg403Gly)2645GCKLikely pathogenic193922271RCV000029850; NMedGen:C1841962,OMIM:12585174418514244185142NM_000162.3:c.1207C>GNP_000153.1:p.Arg403GlyNC_000007.13:g.44185142G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1175G>T (p.Arg392Leu)2645GCKLikely pathogenic193922269RCV000029848; NMedGen:C1841962,OMIM:12585174418517444185174NM_000162.3:c.1175G>TNP_000153.1:p.Arg392LeuNC_000007.13:g.44185174C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1169T>A (p.Ile390Asn)2645GCKLikely pathogenic193921340RCV000029846; NMedGen:C1841962,OMIM:12585174418518044185180NM_000162.3:c.1169T>ANP_000153.1:p.Ile390AsnNC_000007.13:g.44185180A>G,NC_000007.13:g.44185180A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1169T>C (p.Ile390Thr)2645GCKLikely pathogenic193921340RCV000029847; NMedGen:C1841962,OMIM:12585174418518044185180NM_000162.3:c.1169T>CNP_000153.1:p.Ile390ThrNC_000007.13:g.44185180A>G,NC_000007.13:g.44185180A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1160C>A (p.Ala387Glu)2645GCKLikely pathogenic193921338RCV000029844; NMedGen:C1841962,OMIM:12585174418518944185189NM_000162.3:c.1160C>ANP_000153.1:p.Ala387GluNC_000007.13:g.44185189G>A,NC_000007.13:g.44185189G>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1160C>T (p.Ala387Val)2645GCKLikely pathogenic193921338RCV000029845; NMedGen:C1841962,OMIM:12585174418518944185189NM_000162.3:c.1160C>TNP_000153.1:p.Ala387ValNC_000007.13:g.44185189G>A,NC_000007.13:g.44185189G>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1157T>C (p.Leu386Pro)2645GCKLikely pathogenic193922268RCV000029843; NMedGen:C1841962,OMIM:12585174418519244185192NM_000162.3:c.1157T>CNP_000153.1:p.Leu386ProNC_000007.13:g.44185192A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1153G>A (p.Gly385Arg)2645GCKLikely pathogenic193922267RCV000029842; NMedGen:C1841962,OMIM:12585174418519644185196NM_000162.3:c.1153G>ANP_000153.1:p.Gly385ArgNC_000007.13:g.44185196C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1142T>G (p.Met381Arg)2645GCKLikely pathogenic193922266RCV000029841; NMedGen:C1841962,OMIM:12585174418520744185207NM_000162.3:c.1142T>GNP_000153.1:p.Met381ArgNC_000007.13:g.44185207A>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1136C>A (p.Ala379Glu)2645GCKLikely pathogenic193922265RCV000029840; NMedGen:C1841962,OMIM:12585174418521344185213NM_000162.3:c.1136C>ANP_000153.1:p.Ala379GluNC_000007.13:g.44185213G>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1132G>A (p.Ala378Thr)2645GCKPathogenic104894016RCV000017527; NMedGen:C1841962,OMIM:12585174418521744185217NM_000162.3:c.1132G>ANP_000153.1:p.Ala378ThrNC_000007.13:g.44185217C>TOMIM Allelic Variant:138079.0014C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1130G>A (p.Arg377His)2645GCKLikely pathogenic193922264RCV000029839; NMedGen:C1841962,OMIM:12585174418521944185219NM_000162.3:c.1130G>ANP_000153.1:p.Arg377HisNC_000007.13:g.44185219C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1124C>T (p.Ser375Phe)2645GCKLikely pathogenic193922263RCV000029838; NMedGen:C1841962,OMIM:12585174418522544185225NM_000162.3:c.1124C>TNP_000153.1:p.Ser375PheNC_000007.13:g.44185225G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1114G>T (p.Glu372Ter)2645GCKLikely pathogenic193922262RCV000029837; NMedGen:C1841962,OMIM:12585174418523544185235NM_000162.3:c.1114G>TNP_000153.1:p.Glu372TerNC_000007.13:g.44185235C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1042A>T (p.Ile348Phe)2645GCKLikely pathogenic193922260RCV000029835; NMedGen:C1841962,OMIM:12585174418530744185307NM_000162.3:c.1042A>TNP_000153.1:p.Ile348PheNC_000007.13:g.44185307T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_033507.1(GCK):c.1033G>T (p.Asp345Tyr)2645GCKUncertain significance864321656RCV000203555; NMedGen:C1841962,OMIM:12585174418531944185319NM_033507.1:c.1033G>TNP_277042.1:p.Asp345TyrNC_000007.13:g.44185319C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1020-1G>C2645GCKLikely pathogenic193922258RCV000029833; NMedGen:C1841962,OMIM:12585174418533044185330NM_000162.3:c.1020-1G>CNC_000007.13:g.44185330C>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1020-10C>A2645GCKUncertain significance193922257RCV000029832; NMedGen:C1841962,OMIM:12585174418533944185339NM_000162.3:c.1020-10C>ANC_000007.13:g.44185339G>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1019+16G>A2645GCKUncertain significance193922256RCV000029831; NMedGen:C1841962,OMIM:12585174418604644186046NM_000162.3:c.1019+16G>ANC_000007.13:g.44186046C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1018A>G (p.Ser340Gly)2645GCKLikely pathogenic193922255RCV000029830; NMedGen:C1841962,OMIM:12585174418606344186063NM_000162.3:c.1018A>GNP_000153.1:p.Ser340GlyNC_000007.13:g.44186063T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1015G>A (p.Glu339Lys)2645GCKPathogenic397514580RCV000032978; NMedGen:C1841962,OMIM:12585174418606644186066NM_000162.3:c.1015G>ANP_000153.1:p.Glu339LysNC_000007.13:g.44186066C>TOMIM Allelic Variant:138079.0016C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1003_1004insAA (p.Val335Glufs)2645GCKLikely pathogenic193922253RCV000029828; NMedGen:C1841962,OMIM:12585174418607744186078NM_000162.3:c.1003_1004insAANP_000153.1:p.Val335GlufsNC_000007.13:g.44186077_44186078insTT-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet)2645GCKLikely pathogenic193922252RCV000029827; NMedGen:C1841962,OMIM:12585174418607844186079NM_000162.3:c.1002_1003delCGinsAANP_000153.1:p.Phe334_Val335delinsLeuMetNC_000007.13:g.44186078_44186079delCGinsTT-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.1003delG (p.Val335Cysfs)2645GCKLikely pathogenic193922254RCV000029829; NMedGen:C1841962,OMIM:12585174418607844186078NM_000162.3:c.1003delGNP_000153.1:p.Val335CysfsNC_000007.13:g.44186078delC-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.971T>C (p.Leu324Pro)2645GCKLikely pathogenic193922341RCV000029933; NMedGen:C1841962,OMIM:12585174418611044186110NM_000162.3:c.971T>CNP_000153.1:p.Leu324ProNC_000007.13:g.44186110A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.954G>C (p.Gly318=)2645GCKLikely benign145764627RCV000029932; NMedGen:C1841962,OMIM:12585174418612744186127NM_000162.3:c.954G>CNP_000153.1:p.Gly318=NC_000007.13:g.44186127C>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.952G>T (p.Gly318Trp)2645GCKLikely pathogenic193922340RCV000029931; NMedGen:C1841962,OMIM:12585174418612944186129NM_000162.3:c.952G>TNP_000153.1:p.Gly318TrpNC_000007.13:g.44186129C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.947T>A (p.Phe316Tyr)2645GCKLikely pathogenic193922339RCV000029930; NMedGen:C1841962,OMIM:12585174418613444186134NM_000162.3:c.947T>ANP_000153.1:p.Phe316TyrNC_000007.13:g.44186134A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.944T>A (p.Leu315His)2645GCKPathogenic193922338RCV000029929; NMedGen:C1841962,OMIM:12585174418613744186137NM_000162.3:c.944T>ANP_000153.1:p.Leu315HisNC_000007.13:g.44186137A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.917T>C (p.Leu306Pro)2645GCKLikely pathogenic193922337RCV000029928; NMedGen:C1841962,OMIM:12585174418616444186164NM_000162.3:c.917T>CNP_000153.1:p.Leu306ProNC_000007.13:g.44186164A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.907C>T (p.Arg303Trp)2645GCKLikely pathogenic193922336RCV000029927; NMedGen:C1841962,OMIM:12585174418617444186174NM_000162.3:c.907C>TNP_000153.1:p.Arg303TrpNC_000007.13:g.44186174G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.895G>C (p.Gly299Arg)2645GCKPathogenic104894009RCV000017516; NMedGen:C1841962,OMIM:12585174418618644186186NM_000162.3:c.895G>CNP_000153.1:p.Gly299ArgNC_000007.13:g.44186186C>GOMIM Allelic Variant:138079.0005C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.871A>T (p.Lys291Ter)2645GCKPathogenic193922335RCV000029926; NMedGen:C1841962,OMIM:12585174418621044186210NM_000162.3:c.871A>TNP_000153.1:p.Lys291TerNC_000007.13:g.44186210T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
GCK:c.864-159_864-149del2645GCKUncertain significance386134235RCV000029925; NMedGen:C1841962,OMIM:12585174418636644186376NM_000162.3:c.864-159_864-149delAGGGAAAGACGNC_000007.13:g.44186366_44186376delCGTCTTTCCCT-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.863+3A>G2645GCKUncertain significance193922334RCV000029924; NMedGen:C1841962,OMIM:12585174418724644187246NM_000162.3:c.863+3A>GNC_000007.13:g.44187246T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.835G>T (p.Glu279Ter)2645GCKPathogenic104894005RCV000017512; NMedGen:C1841962,OMIM:12585174418727744187277NM_000162.3:c.835G>TNP_000153.1:p.Glu279TerNC_000007.13:g.44187277C>A,NC_000007.13:g.44187277C>GOMIM Allelic Variant:138079.0001C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.833A>T (p.Asp278Val)2645GCKLikely pathogenic193922333RCV000029923; NMedGen:C1841962,OMIM:12585174418727944187279NM_000162.3:c.833A>TNP_000153.1:p.Asp278ValNC_000007.13:g.44187279T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.812T>C (p.Leu271Pro)2645GCKLikely pathogenic193922332RCV000029922; NMedGen:C1841962,OMIM:12585174418730044187300NM_000162.3:c.812T>CNP_000153.1:p.Leu271ProNC_000007.13:g.44187300A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.793G>T (p.Glu265Ter)2645GCKPathogenic104894011RCV000017519; NMedGen:C1841962,OMIM:12585174418731944187319NM_000162.3:c.793G>TNP_000153.1:p.Glu265TerNC_000007.13:g.44187319C>AOMIM Allelic Variant:138079.0008C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.787T>C (p.Ser263Pro)2645GCKLikely pathogenic193922331RCV000117135; RCV000029921; NMedGen:C0085207; MedGen:C1841962,OMIM:12585174418732544187325NM_000162.3:c.787T>CNP_000153.1:p.Ser263ProNC_000007.13:g.44187325A>G-C0085207 Diabetes mellitus, gestational; C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.781G>A (p.Gly261Arg)2645GCKPathogenic104894008RCV000017515; NMedGen:C1841962,OMIM:12585174418733144187331NM_000162.3:c.781G>ANP_000153.1:p.Gly261ArgNC_000007.13:g.44187331C>TOMIM Allelic Variant:138079.0004C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.779T>C (p.Phe260Ser)2645GCKLikely pathogenic193922330RCV000029920; NMedGen:C1841962,OMIM:12585174418733344187333NM_000162.3:c.779T>CNP_000153.1:p.Phe260SerNC_000007.13:g.44187333A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.768G>C (p.Glu256Asp)2645GCKLikely pathogenic193922328RCV000029918; NMedGen:C1841962,OMIM:12585174418734444187344NM_000162.3:c.768G>CNP_000153.1:p.Glu256AspNC_000007.13:g.44187344C>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.760A>C (p.Asn254His)2645GCKLikely pathogenic193922327RCV000029917; NMedGen:C1841962,OMIM:12585174418735244187352NM_000162.3:c.760A>CNP_000153.1:p.Asn254HisNC_000007.13:g.44187352T>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.758T>C (p.Val253Ala)2645GCKLikely pathogenic193921400RCV000029915; NMedGen:C1841962,OMIM:12585174418735444187354NM_000162.3:c.758T>CNP_000153.1:p.Val253AlaNC_000007.13:g.44187354A>C,NC_000007.13:g.44187354A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.758T>G (p.Val253Gly)2645GCKLikely pathogenic193921400RCV000029916; NMedGen:C1841962,OMIM:12585174418735444187354NM_000162.3:c.758T>GNP_000153.1:p.Val253GlyNC_000007.13:g.44187354A>C,NC_000007.13:g.44187354A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.752T>C (p.Met251Thr)2645GCKLikely pathogenic193922326RCV000029914; NMedGen:C1841962,OMIM:12585174418736044187360NM_000162.3:c.752T>CNP_000153.1:p.Met251ThrNC_000007.13:g.44187360A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.723G>A (p.Val241=)2645GCKLikely benign193922324RCV000029912; NMedGen:C1841962,OMIM:12585174418738944187389NM_000162.3:c.723G>ANP_000153.1:p.Val241=NC_000007.13:g.44187389C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.704T>C (p.Met235Thr)2645GCKLikely pathogenic193922323RCV000029911; NMedGen:C1841962,OMIM:12585174418740844187408NM_000162.3:c.704T>CNP_000153.1:p.Met235ThrNC_000007.13:g.44187408A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.694G>A (p.Ala232Thr)2645GCKLikely pathogenic193922322RCV000029910; NMedGen:C1841962,OMIM:12585174418741844187418NM_000162.3:c.694G>ANP_000153.1:p.Ala232ThrNC_000007.13:g.44187418C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.683C>T (p.Thr228Met)2645GCKPathogenic80356655RCV000030923; RCV000020167; NMedGen:C1833104,OMIM:606176; MedGen:C1841962,OMIM:12585174418742944187429NM_000162.3:c.683C>TNP_000153.1:p.Thr228MetNC_000007.13:g.44187429G>AOMIM Allelic Variant:138079.0003,OMIM Allelic Variant:138079.0011C1841962 125851 Maturity-onset diabetes of the young, type 2; C1833104 606176 Permanent neonatal diabetes mellitus
NM_000162.3(GCK):c.680-91dupG2645GCKUncertain significance193922321RCV000029909; NMedGen:C1841962,OMIM:12585174418752344187523NM_000162.3:c.680-91dupGNC_000007.13:g.44187523dupC-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.679+1delG2645GCKLikely pathogenic193922320RCV000029908; NMedGen:C1841962,OMIM:12585174418935844189358NM_000162.3:c.679+1delGNC_000007.13:g.44189358delC-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.677T>C (p.Val226Ala)2645GCKLikely pathogenic193922319RCV000029907; NMedGen:C1841962,OMIM:12585174418936144189361NM_000162.3:c.677T>CNP_000153.1:p.Val226AlaNC_000007.13:g.44189361A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.676G>A (p.Val226Met)2645GCKPathogenic148311934RCV000029906; NMedGen:C1841962,OMIM:12585174418936244189362NM_000162.3:c.676G>ANP_000153.1:p.Val226MetNC_000007.13:g.44189362C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.666C>T (p.Val222=)2645GCKLikely benign193922318RCV000029905; NMedGen:C1841962,OMIM:12585174418937244189372NM_000162.3:c.666C>TNP_000153.1:p.Val222=NC_000007.13:g.44189372G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.661G>A (p.Glu221Lys)2645GCKLikely pathogenic193922317RCV000029904; NMedGen:C1841962,OMIM:12585174418937744189377NM_000162.3:c.661G>ANP_000153.1:p.Glu221LysNC_000007.13:g.44189377C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.659G>A (p.Cys220Tyr)2645GCKLikely pathogenic193922316RCV000029903; NMedGen:C1841962,OMIM:12585174418937944189379NM_000162.3:c.659G>ANP_000153.1:p.Cys220TyrNC_000007.13:g.44189379C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.658T>C (p.Cys220Arg)2645GCKLikely pathogenic193922315RCV000029902; NMedGen:C1841962,OMIM:12585174418938044189380NM_000162.3:c.658T>CNP_000153.1:p.Cys220ArgNC_000007.13:g.44189380A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.645C>G (p.Tyr215Ter)2645GCKPathogenic144723656RCV000029901; NMedGen:C1841962,OMIM:12585174418939344189393NM_000162.3:c.645C>GNP_000153.1:p.Tyr215TerNC_000007.13:g.44189393G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.635_637delCCT (p.Ser212del)2645GCKLikely pathogenic193922314RCV000029900; NMedGen:C1841962,OMIM:12585174418940144189403NM_000162.3:c.635_637delCCTNP_000153.1:p.Ser212delNC_000007.13:g.44189401_44189403delAGG-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.630G>T (p.Met210Ile)2645GCKLikely pathogenic193922313RCV000029899; NMedGen:C1841962,OMIM:12585174418940844189408NM_000162.3:c.630G>TNP_000153.1:p.Met210IleNC_000007.13:g.44189408C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.629T>A (p.Met210Lys)2645GCKPathogenic80356654RCV000017521; RCV000190348; NMedGen:C1833104,OMIM:606176; MedGen:C1841962,OMIM:12585174418940944189409NM_000162.3:c.629T>ANP_000153.1:p.Met210LysNC_000007.13:g.44189409A>TOMIM Allelic Variant:138079.0010C1841962 125851 Maturity-onset diabetes of the young, type 2; C1833104 606176 Permanent neonatal diabetes mellitus
NM_000162.3(GCK):c.618G>A (p.Thr206=)2645GCKLikely benign142817246RCV000029898; RCV000117133; NMedGen:C1841962,OMIM:125851; MedGen:CN16937474418942044189420NM_000162.3:c.618G>ANP_000153.1:p.Thr206=NC_000007.13:g.44189420C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2; CN169374 not specified
NM_000162.3(GCK):c.615C>G (p.Asp205Glu)2645GCKLikely pathogenic193922312RCV000029897; NMedGen:C1841962,OMIM:12585174418942344189423NM_000162.3:c.615C>GNP_000153.1:p.Asp205GluNC_000007.13:g.44189423G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.605T>C (p.Met202Thr)2645GCKLikely pathogenic193922311RCV000029896; NMedGen:C1841962,OMIM:12585174418943344189433NM_000162.3:c.605T>CNP_000153.1:p.Met202ThrNC_000007.13:g.44189433A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.604A>G (p.Met202Val)2645GCKLikely pathogenic193922310RCV000029895; NMedGen:C1841962,OMIM:12585174418943444189434NM_000162.3:c.604A>GNP_000153.1:p.Met202ValNC_000007.13:g.44189434T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.587A>G (p.Glu196Gly)2645GCKLikely pathogenic193922309RCV000029894; NMedGen:C1841962,OMIM:12585174418945144189451NM_000162.3:c.587A>GNP_000153.1:p.Glu196GlyNC_000007.13:g.44189451T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.563C>T (p.Ala188Val)2645GCKLikely pathogenic193922307RCV000029892; NMedGen:C1841962,OMIM:12585174418958444189584NM_000162.3:c.563C>TNP_000153.1:p.Ala188ValNC_000007.13:g.44189584G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.542T>C (p.Val181Ala)2645GCKLikely pathogenic193922306RCV000029891; NMedGen:C1841962,OMIM:12585174418960544189605NM_000162.3:c.542T>CNP_000153.1:p.Val181AlaNC_000007.13:g.44189605A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.532G>A (p.Gly178Arg)2645GCKLikely pathogenic193922305RCV000029890; NMedGen:C1841962,OMIM:12585174418961544189615NM_000162.3:c.532G>ANP_000153.1:p.Gly178ArgNC_000007.13:g.44189615C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.527C>G (p.Ala176Gly)2645GCKLikely pathogenic193922304RCV000029889; NMedGen:C1841962,OMIM:12585174418962044189620NM_000162.3:c.527C>GNP_000153.1:p.Ala176GlyNC_000007.13:g.44189620G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.509G>T (p.Gly170Val)2645GCKLikely pathogenic193922303RCV000029888; NMedGen:C1841962,OMIM:12585174418963844189638NM_000162.3:c.509G>TNP_000153.1:p.Gly170ValNC_000007.13:g.44189638C>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.483G>A (p.Lys161=)2645GCKLikely pathogenic193922302RCV000029887; NMedGen:C1841962,OMIM:12585174419055544190555NM_000162.3:c.483G>ANP_000153.1:p.Lys161=NC_000007.13:g.44190555C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.463A>G (p.Arg155Gly)2645GCKLikely pathogenic193922301RCV000029886; NMedGen:C1841962,OMIM:12585174419057544190575NM_000162.3:c.463A>GNP_000153.1:p.Arg155GlyNC_000007.13:g.44190575T>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.457C>T (p.Pro153Ser)2645GCKLikely pathogenic193922300RCV000029884; NMedGen:C1841962,OMIM:12585174419058144190581NM_000162.3:c.457C>TNP_000153.1:p.Pro153SerNC_000007.13:g.44190581G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.450C>T (p.Phe150=)2645GCKLikely benign193922299RCV000029883; NMedGen:C1841962,OMIM:12585174419058844190588NM_000162.3:c.450C>TNP_000153.1:p.Phe150=NC_000007.13:g.44190588G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.449T>C (p.Phe150Ser)2645GCKLikely pathogenic193922297RCV000029881; NMedGen:C1841962,OMIM:12585174419058944190589NM_000162.3:c.449T>CNP_000153.1:p.Phe150SerNC_000007.13:g.44190589A>G,NC_000007.13:g.44190589A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.440G>A (p.Gly147Asp)2645GCKLikely pathogenic193922296RCV000029880; NMedGen:C1841962,OMIM:12585174419059844190598NM_000162.3:c.440G>ANP_000153.1:p.Gly147AspNC_000007.13:g.44190598C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.393delC (p.Asp132Thrfs)2645GCKLikely pathogenic193922295RCV000029879; NMedGen:C1841962,OMIM:12585174419064544190645NM_000162.3:c.393delCNP_000153.1:p.Asp132ThrfsNC_000007.13:g.44190645delG-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.391T>C (p.Ser131Pro)2645GCKPathogenic104894010RCV000017518; NMedGen:C1841962,OMIM:12585174419064744190647NM_000162.3:c.391T>CNP_000153.1:p.Ser131ProNC_000007.13:g.44190647A>GOMIM Allelic Variant:138079.0007C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.370G>A (p.Asp124Asn)2645GCKLikely pathogenic759072800RCV000193215; NMedGen:C1841962,OMIM:12585174419066844190668NM_000162.3:c.370G>ANP_000153.1:p.Asp124AsnNC_000007.13:g.44190668C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.364-35dupC2645GCKUncertain significance193922293RCV000029877; NMedGen:C1841962,OMIM:12585174419070944190709NM_000162.3:c.364-35dupCNC_000007.13:g.44190709dupG-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.364-48dupC2645GCKUncertain significance193922294RCV000029878; NMedGen:C1841962,OMIM:12585174419072244190722NM_000162.3:c.364-48dupCNC_000007.13:g.44190722dupG-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.339C>T (p.Asp113=)2645GCKLikely benign149412035RCV000029876; RCV000194993; NMedGen:C1841962,OMIM:125851; MedGen:CN16937474419189444191894NM_000162.3:c.339C>TNP_000153.1:p.Asp113=NC_000007.13:g.44191894G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2; CN169374 not specified
NM_000162.3(GCK):c.317_333del17 (p.Gln106Argfs)2645GCKPathogenic797045595RCV000193318; NMedGen:C1841962,OMIM:12585174419190044191916NM_000162.3:c.317_333del17NP_000153.1:p.Gln106ArgfsNC_000007.13:g.44191900_44191916del17-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.322T>G (p.Tyr108Asp)2645GCKLikely pathogenic193922292RCV000029875; NMedGen:C1841962,OMIM:12585174419191144191911NM_000162.3:c.322T>GNP_000153.1:p.Tyr108AspNC_000007.13:g.44191911A>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.304A>T (p.Lys102Ter)2645GCKLikely pathogenic193922291RCV000029874; NMedGen:C1841962,OMIM:12585174419192944191929NM_000162.3:c.304A>TNP_000153.1:p.Lys102TerNC_000007.13:g.44191929T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.253A>T (p.Arg85Trp)2645GCKLikely pathogenic193922290RCV000029873; NMedGen:C1841962,OMIM:12585174419198044191980NM_000162.3:c.253A>TNP_000153.1:p.Arg85TrpNC_000007.13:g.44191980T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.214G>A (p.Gly72Arg)2645GCKPathogenic193922289RCV000029872; NMedGen:C1841962,OMIM:12585174419201944192019NM_000162.3:c.214G>ANP_000153.1:p.Gly72ArgNC_000007.13:g.44192019C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.209-8G>A2645GCKUncertain significance144798843RCV000029871; NMedGen:C1841962,OMIM:12585174419203244192032NM_000162.3:c.209-8G>ANC_000007.13:g.44192032C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.208+11G>A2645GCKUncertain significance77440690RCV000029869; RCV000195056; NMedGen:C1841962,OMIM:125851; MedGen:CN16937474419288944192889NM_000162.3:c.208+11G>ANC_000007.13:g.44192889C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2; CN169374 not specified
NM_000162.3(GCK):c.208+9T>A2645GCKUncertain significance193922288RCV000029870; NMedGen:C1841962,OMIM:12585174419289144192891NM_000162.3:c.208+9T>ANC_000007.13:g.44192891A>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.175C>T (p.Pro59Ser)2645GCKLikely pathogenic193922287RCV000029868; NMedGen:C1841962,OMIM:12585174419293344192933NM_000162.3:c.175C>TNP_000153.1:p.Pro59SerNC_000007.13:g.44192933G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.146C>A (p.Thr49Asn)2645GCKLikely pathogenic193922286RCV000029867; NMedGen:C1841962,OMIM:12585174419296244192962NM_000162.3:c.146C>ANP_000153.1:p.Thr49AsnNC_000007.13:g.44192962G>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.131G>A (p.Gly44Asp)2645GCKLikely pathogenic193922279RCV000029859; NMedGen:C1841962,OMIM:12585174419297744192977NM_000162.3:c.131G>ANP_000153.1:p.Gly44AspNC_000007.13:g.44192977C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.118G>A (p.Glu40Lys)2645GCKPathogenic794727236RCV000175536; NMedGen:C1841962,OMIM:12585174419299044192990NM_000162.3:c.118G>ANP_000153.1:p.Glu40LysNC_000007.13:g.44192990C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.117G>A (p.Lys39=)2645GCKLikely benign193922270RCV000029849; NMedGen:C1841962,OMIM:12585174419299144192991NM_000162.3:c.117G>ANP_000153.1:p.Lys39=NC_000007.13:g.44192991C>T-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.107G>C (p.Arg36Pro)2645GCKLikely pathogenic193922261RCV000029836; NMedGen:C1841962,OMIM:12585174419300144193001NM_000162.3:c.107G>CNP_000153.1:p.Arg36ProNC_000007.13:g.44193001C>G-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.103A>T (p.Arg35Ter)2645GCKLikely pathogenic193922259RCV000029834; NMedGen:C1841962,OMIM:12585174419300544193005NM_000162.3:c.103A>TNP_000153.1:p.Arg35TerNC_000007.13:g.44193005T>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.76C>T (p.Gln26Ter)2645GCKLikely pathogenic193922329RCV000029919; NMedGen:C1841962,OMIM:12585174419303244193032NM_000162.3:c.76C>TNP_000153.1:p.Gln26TerNC_000007.13:g.44193032G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.74T>G (p.Leu25Arg)2645GCKLikely pathogenic193922325RCV000029913; NMedGen:C1841962,OMIM:12585174419303444193034NM_000162.3:c.74T>GNP_000153.1:p.Leu25ArgNC_000007.13:g.44193034A>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.57C>G (p.Ile19Met)2645GCKLikely pathogenic193922308RCV000029893; NMedGen:C1841962,OMIM:12585174419305144193051NM_000162.3:c.57C>GNP_000153.1:p.Ile19MetNC_000007.13:g.44193051G>C-C1841962 125851 Maturity-onset diabetes of the young, type 2
NM_000162.3(GCK):c.46-12C>T2645GCKLikely benign;Uncertain significance142829768RCV000029885; RCV000194380; NMedGen:C1841962,OMIM:125851; MedGen:CN16937474419307444193074NM_000162.3:c.46-12C>TNC_000007.13:g.44193074G>A-C1841962 125851 Maturity-onset diabetes of the young, type 2; CN169374 not specified
NM_000162.3(GCK):c.-5T>C2645GCKUncertain significance193922251RCV000029826; NMedGen:C1841962,OMIM:12585174422855744228557NM_000162.3:c.-5T>CNC_000007.13:g.44228557A>G-C1841962 125851 Maturity-onset diabetes of the young, type 2