Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000162.3(GCK):c.1386G>T (p.Met462Ile) | 2645 | GCK | Likely pathogenic | 193922285 | RCV000029865; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184747 | 44184747 | NM_000162.3:c.1386G>T | NP_000153.1:p.Met462Ile | NC_000007.13:g.44184747C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1372_1373delAA (p.Lys458Glufs) | 2645 | GCK | Likely pathogenic | 193922284 | RCV000029864; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184760 | 44184761 | NM_000162.3:c.1372_1373delAA | NP_000153.1:p.Lys458Glufs | NC_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) | 2645 | GCK | Likely pathogenic | 193922274 | RCV000029853; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184775 | 44184854 | NM_000162.3:c.1279_1358del80insTTACA | NP_000153.1:p.Val427_Ser453delinsLeuGln | NC_000007.13:g.44184775_44184854del80insTGTAA | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1358C>T (p.Ser453Leu) | 2645 | GCK | Likely pathogenic | 193922283 | RCV000029863; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184775 | 44184775 | NM_000162.3:c.1358C>T | NP_000153.1:p.Ser453Leu | NC_000007.13:g.44184775G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1345G>A (p.Ala449Thr) | 2645 | GCK | Likely pathogenic | 193922282 | RCV000029862; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184788 | 44184788 | NM_000162.3:c.1345G>A | NP_000153.1:p.Ala449Thr | NC_000007.13:g.44184788C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1339C>G (p.Arg447Gly) | 2645 | GCK | Likely pathogenic | 193922281 | RCV000029861; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184794 | 44184794 | NM_000162.3:c.1339C>G | NP_000153.1:p.Arg447Gly | NC_000007.13:g.44184794G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1332delC (p.Ser445Valfs) | 2645 | GCK | Likely pathogenic | 193922280 | RCV000029860; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184801 | 44184801 | NM_000162.3:c.1332delC | NP_000153.1:p.Ser445Valfs | NC_000007.13:g.44184801delG | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1307T>A (p.Ile436Asn) | 2645 | GCK | Likely pathogenic | 193922278 | RCV000029858; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184826 | 44184826 | NM_000162.3:c.1307T>A | NP_000153.1:p.Ile436Asn | NC_000007.13:g.44184826A>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1289T>C (p.Leu430Pro) | 2645 | GCK | Likely pathogenic | 193922277 | RCV000029857; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184844 | 44184844 | NM_000162.3:c.1289T>C | NP_000153.1:p.Leu430Pro | NC_000007.13:g.44184844A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1288C>T (p.Leu430=) | 2645 | GCK | Likely benign | 193922276 | RCV000029856; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184845 | 44184845 | NM_000162.3:c.1288C>T | NP_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=) | 2645 | GCK | Likely benign | 140672134 | RCV000029855; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184848 | 44184848 | NM_000162.3:c.1285A>C | NP_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) | 2645 | GCK | Likely pathogenic | 193922275 | RCV000029854; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184849 | 44184850 | NM_000162.3:c.1283_1284delGC | NP_000153.1:p.Arg428Glnfs | NC_000007.13:g.44184849_44184850delGC | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1268T>A (p.Phe423Tyr) | 2645 | GCK | Likely pathogenic | 193922273 | RCV000029852; | N | MedGen:C1841962,OMIM:125851 | 7 | 44184865 | 44184865 | NM_000162.3:c.1268T>A | NP_000153.1:p.Phe423Tyr | NC_000007.13:g.44184865A>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1240A>G (p.Lys414Glu) | 2645 | GCK | Likely pathogenic | 193922272 | RCV000029851; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185109 | 44185109 | NM_000162.3:c.1240A>G | NP_000153.1:p.Lys414Glu | NC_000007.13:g.44185109T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1207C>G (p.Arg403Gly) | 2645 | GCK | Likely pathogenic | 193922271 | RCV000029850; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185142 | 44185142 | NM_000162.3:c.1207C>G | NP_000153.1:p.Arg403Gly | NC_000007.13:g.44185142G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1175G>T (p.Arg392Leu) | 2645 | GCK | Likely pathogenic | 193922269 | RCV000029848; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185174 | 44185174 | NM_000162.3:c.1175G>T | NP_000153.1:p.Arg392Leu | NC_000007.13:g.44185174C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1169T>A (p.Ile390Asn) | 2645 | GCK | Likely pathogenic | 193921340 | RCV000029846; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185180 | 44185180 | NM_000162.3:c.1169T>A | NP_000153.1:p.Ile390Asn | NC_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) | 2645 | GCK | Likely pathogenic | 193921340 | RCV000029847; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185180 | 44185180 | NM_000162.3:c.1169T>C | NP_000153.1:p.Ile390Thr | NC_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) | 2645 | GCK | Likely pathogenic | 193921338 | RCV000029844; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185189 | 44185189 | NM_000162.3:c.1160C>A | NP_000153.1:p.Ala387Glu | NC_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) | 2645 | GCK | Likely pathogenic | 193921338 | RCV000029845; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185189 | 44185189 | NM_000162.3:c.1160C>T | NP_000153.1:p.Ala387Val | NC_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) | 2645 | GCK | Likely pathogenic | 193922268 | RCV000029843; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185192 | 44185192 | NM_000162.3:c.1157T>C | NP_000153.1:p.Leu386Pro | NC_000007.13:g.44185192A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1153G>A (p.Gly385Arg) | 2645 | GCK | Likely pathogenic | 193922267 | RCV000029842; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185196 | 44185196 | NM_000162.3:c.1153G>A | NP_000153.1:p.Gly385Arg | NC_000007.13:g.44185196C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1142T>G (p.Met381Arg) | 2645 | GCK | Likely pathogenic | 193922266 | RCV000029841; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185207 | 44185207 | NM_000162.3:c.1142T>G | NP_000153.1:p.Met381Arg | NC_000007.13:g.44185207A>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1136C>A (p.Ala379Glu) | 2645 | GCK | Likely pathogenic | 193922265 | RCV000029840; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185213 | 44185213 | NM_000162.3:c.1136C>A | NP_000153.1:p.Ala379Glu | NC_000007.13:g.44185213G>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1132G>A (p.Ala378Thr) | 2645 | GCK | Pathogenic | 104894016 | RCV000017527; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185217 | 44185217 | NM_000162.3:c.1132G>A | NP_000153.1:p.Ala378Thr | NC_000007.13:g.44185217C>T | OMIM Allelic Variant:138079.0014 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1130G>A (p.Arg377His) | 2645 | GCK | Likely pathogenic | 193922264 | RCV000029839; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185219 | 44185219 | NM_000162.3:c.1130G>A | NP_000153.1:p.Arg377His | NC_000007.13:g.44185219C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1124C>T (p.Ser375Phe) | 2645 | GCK | Likely pathogenic | 193922263 | RCV000029838; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185225 | 44185225 | NM_000162.3:c.1124C>T | NP_000153.1:p.Ser375Phe | NC_000007.13:g.44185225G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1114G>T (p.Glu372Ter) | 2645 | GCK | Likely pathogenic | 193922262 | RCV000029837; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185235 | 44185235 | NM_000162.3:c.1114G>T | NP_000153.1:p.Glu372Ter | NC_000007.13:g.44185235C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1042A>T (p.Ile348Phe) | 2645 | GCK | Likely pathogenic | 193922260 | RCV000029835; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185307 | 44185307 | NM_000162.3:c.1042A>T | NP_000153.1:p.Ile348Phe | NC_000007.13:g.44185307T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_033507.1(GCK):c.1033G>T (p.Asp345Tyr) | 2645 | GCK | Uncertain significance | 864321656 | RCV000203555; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185319 | 44185319 | NM_033507.1:c.1033G>T | NP_277042.1:p.Asp345Tyr | NC_000007.13:g.44185319C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1020-1G>C | 2645 | GCK | Likely pathogenic | 193922258 | RCV000029833; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185330 | 44185330 | NM_000162.3:c.1020-1G>C | | NC_000007.13:g.44185330C>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1020-10C>A | 2645 | GCK | Uncertain significance | 193922257 | RCV000029832; | N | MedGen:C1841962,OMIM:125851 | 7 | 44185339 | 44185339 | NM_000162.3:c.1020-10C>A | | NC_000007.13:g.44185339G>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1019+16G>A | 2645 | GCK | Uncertain significance | 193922256 | RCV000029831; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186046 | 44186046 | NM_000162.3:c.1019+16G>A | | NC_000007.13:g.44186046C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1018A>G (p.Ser340Gly) | 2645 | GCK | Likely pathogenic | 193922255 | RCV000029830; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186063 | 44186063 | NM_000162.3:c.1018A>G | NP_000153.1:p.Ser340Gly | NC_000007.13:g.44186063T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1015G>A (p.Glu339Lys) | 2645 | GCK | Pathogenic | 397514580 | RCV000032978; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186066 | 44186066 | NM_000162.3:c.1015G>A | NP_000153.1:p.Glu339Lys | NC_000007.13:g.44186066C>T | OMIM Allelic Variant:138079.0016 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1003_1004insAA (p.Val335Glufs) | 2645 | GCK | Likely pathogenic | 193922253 | RCV000029828; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186077 | 44186078 | NM_000162.3:c.1003_1004insAA | NP_000153.1:p.Val335Glufs | NC_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) | 2645 | GCK | Likely pathogenic | 193922252 | RCV000029827; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186078 | 44186079 | NM_000162.3:c.1002_1003delCGinsAA | NP_000153.1:p.Phe334_Val335delinsLeuMet | NC_000007.13:g.44186078_44186079delCGinsTT | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.1003delG (p.Val335Cysfs) | 2645 | GCK | Likely pathogenic | 193922254 | RCV000029829; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186078 | 44186078 | NM_000162.3:c.1003delG | NP_000153.1:p.Val335Cysfs | NC_000007.13:g.44186078delC | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.971T>C (p.Leu324Pro) | 2645 | GCK | Likely pathogenic | 193922341 | RCV000029933; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186110 | 44186110 | NM_000162.3:c.971T>C | NP_000153.1:p.Leu324Pro | NC_000007.13:g.44186110A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.954G>C (p.Gly318=) | 2645 | GCK | Likely benign | 145764627 | RCV000029932; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186127 | 44186127 | NM_000162.3:c.954G>C | NP_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) | 2645 | GCK | Likely pathogenic | 193922340 | RCV000029931; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186129 | 44186129 | NM_000162.3:c.952G>T | NP_000153.1:p.Gly318Trp | NC_000007.13:g.44186129C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.947T>A (p.Phe316Tyr) | 2645 | GCK | Likely pathogenic | 193922339 | RCV000029930; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186134 | 44186134 | NM_000162.3:c.947T>A | NP_000153.1:p.Phe316Tyr | NC_000007.13:g.44186134A>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.944T>A (p.Leu315His) | 2645 | GCK | Pathogenic | 193922338 | RCV000029929; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186137 | 44186137 | NM_000162.3:c.944T>A | NP_000153.1:p.Leu315His | NC_000007.13:g.44186137A>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.917T>C (p.Leu306Pro) | 2645 | GCK | Likely pathogenic | 193922337 | RCV000029928; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186164 | 44186164 | NM_000162.3:c.917T>C | NP_000153.1:p.Leu306Pro | NC_000007.13:g.44186164A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.907C>T (p.Arg303Trp) | 2645 | GCK | Likely pathogenic | 193922336 | RCV000029927; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186174 | 44186174 | NM_000162.3:c.907C>T | NP_000153.1:p.Arg303Trp | NC_000007.13:g.44186174G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.895G>C (p.Gly299Arg) | 2645 | GCK | Pathogenic | 104894009 | RCV000017516; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186186 | 44186186 | NM_000162.3:c.895G>C | NP_000153.1:p.Gly299Arg | NC_000007.13:g.44186186C>G | OMIM Allelic Variant:138079.0005 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.871A>T (p.Lys291Ter) | 2645 | GCK | Pathogenic | 193922335 | RCV000029926; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186210 | 44186210 | NM_000162.3:c.871A>T | NP_000153.1:p.Lys291Ter | NC_000007.13:g.44186210T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
GCK:c.864-159_864-149del | 2645 | GCK | Uncertain significance | 386134235 | RCV000029925; | N | MedGen:C1841962,OMIM:125851 | 7 | 44186366 | 44186376 | NM_000162.3:c.864-159_864-149delAGGGAAAGACG | | NC_000007.13:g.44186366_44186376delCGTCTTTCCCT | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.863+3A>G | 2645 | GCK | Uncertain significance | 193922334 | RCV000029924; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187246 | 44187246 | NM_000162.3:c.863+3A>G | | NC_000007.13:g.44187246T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.835G>T (p.Glu279Ter) | 2645 | GCK | Pathogenic | 104894005 | RCV000017512; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187277 | 44187277 | NM_000162.3:c.835G>T | NP_000153.1:p.Glu279Ter | NC_000007.13:g.44187277C>A,NC_000007.13:g.44187277C>G | OMIM Allelic Variant:138079.0001 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.833A>T (p.Asp278Val) | 2645 | GCK | Likely pathogenic | 193922333 | RCV000029923; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187279 | 44187279 | NM_000162.3:c.833A>T | NP_000153.1:p.Asp278Val | NC_000007.13:g.44187279T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.812T>C (p.Leu271Pro) | 2645 | GCK | Likely pathogenic | 193922332 | RCV000029922; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187300 | 44187300 | NM_000162.3:c.812T>C | NP_000153.1:p.Leu271Pro | NC_000007.13:g.44187300A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.793G>T (p.Glu265Ter) | 2645 | GCK | Pathogenic | 104894011 | RCV000017519; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187319 | 44187319 | NM_000162.3:c.793G>T | NP_000153.1:p.Glu265Ter | NC_000007.13:g.44187319C>A | OMIM Allelic Variant:138079.0008 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.787T>C (p.Ser263Pro) | 2645 | GCK | Likely pathogenic | 193922331 | RCV000117135; RCV000029921; | N | MedGen:C0085207; MedGen:C1841962,OMIM:125851 | 7 | 44187325 | 44187325 | NM_000162.3:c.787T>C | NP_000153.1:p.Ser263Pro | NC_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) | 2645 | GCK | Pathogenic | 104894008 | RCV000017515; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187331 | 44187331 | NM_000162.3:c.781G>A | NP_000153.1:p.Gly261Arg | NC_000007.13:g.44187331C>T | OMIM Allelic Variant:138079.0004 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.779T>C (p.Phe260Ser) | 2645 | GCK | Likely pathogenic | 193922330 | RCV000029920; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187333 | 44187333 | NM_000162.3:c.779T>C | NP_000153.1:p.Phe260Ser | NC_000007.13:g.44187333A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.768G>C (p.Glu256Asp) | 2645 | GCK | Likely pathogenic | 193922328 | RCV000029918; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187344 | 44187344 | NM_000162.3:c.768G>C | NP_000153.1:p.Glu256Asp | NC_000007.13:g.44187344C>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.760A>C (p.Asn254His) | 2645 | GCK | Likely pathogenic | 193922327 | RCV000029917; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187352 | 44187352 | NM_000162.3:c.760A>C | NP_000153.1:p.Asn254His | NC_000007.13:g.44187352T>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.758T>C (p.Val253Ala) | 2645 | GCK | Likely pathogenic | 193921400 | RCV000029915; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187354 | 44187354 | NM_000162.3:c.758T>C | NP_000153.1:p.Val253Ala | NC_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) | 2645 | GCK | Likely pathogenic | 193921400 | RCV000029916; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187354 | 44187354 | NM_000162.3:c.758T>G | NP_000153.1:p.Val253Gly | NC_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) | 2645 | GCK | Likely pathogenic | 193922326 | RCV000029914; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187360 | 44187360 | NM_000162.3:c.752T>C | NP_000153.1:p.Met251Thr | NC_000007.13:g.44187360A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.723G>A (p.Val241=) | 2645 | GCK | Likely benign | 193922324 | RCV000029912; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187389 | 44187389 | NM_000162.3:c.723G>A | NP_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) | 2645 | GCK | Likely pathogenic | 193922323 | RCV000029911; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187408 | 44187408 | NM_000162.3:c.704T>C | NP_000153.1:p.Met235Thr | NC_000007.13:g.44187408A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.694G>A (p.Ala232Thr) | 2645 | GCK | Likely pathogenic | 193922322 | RCV000029910; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187418 | 44187418 | NM_000162.3:c.694G>A | NP_000153.1:p.Ala232Thr | NC_000007.13:g.44187418C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.683C>T (p.Thr228Met) | 2645 | GCK | Pathogenic | 80356655 | RCV000030923; RCV000020167; | N | MedGen:C1833104,OMIM:606176; MedGen:C1841962,OMIM:125851 | 7 | 44187429 | 44187429 | NM_000162.3:c.683C>T | NP_000153.1:p.Thr228Met | NC_000007.13:g.44187429G>A | OMIM Allelic Variant:138079.0003,OMIM Allelic Variant:138079.0011 | C1841962 125851 Maturity-onset diabetes of the young, type 2; C1833104 606176 Permanent neonatal diabetes mellitus | | |
NM_000162.3(GCK):c.680-91dupG | 2645 | GCK | Uncertain significance | 193922321 | RCV000029909; | N | MedGen:C1841962,OMIM:125851 | 7 | 44187523 | 44187523 | NM_000162.3:c.680-91dupG | | NC_000007.13:g.44187523dupC | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.679+1delG | 2645 | GCK | Likely pathogenic | 193922320 | RCV000029908; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189358 | 44189358 | NM_000162.3:c.679+1delG | | NC_000007.13:g.44189358delC | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.677T>C (p.Val226Ala) | 2645 | GCK | Likely pathogenic | 193922319 | RCV000029907; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189361 | 44189361 | NM_000162.3:c.677T>C | NP_000153.1:p.Val226Ala | NC_000007.13:g.44189361A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.676G>A (p.Val226Met) | 2645 | GCK | Pathogenic | 148311934 | RCV000029906; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189362 | 44189362 | NM_000162.3:c.676G>A | NP_000153.1:p.Val226Met | NC_000007.13:g.44189362C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.666C>T (p.Val222=) | 2645 | GCK | Likely benign | 193922318 | RCV000029905; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189372 | 44189372 | NM_000162.3:c.666C>T | NP_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) | 2645 | GCK | Likely pathogenic | 193922317 | RCV000029904; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189377 | 44189377 | NM_000162.3:c.661G>A | NP_000153.1:p.Glu221Lys | NC_000007.13:g.44189377C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.659G>A (p.Cys220Tyr) | 2645 | GCK | Likely pathogenic | 193922316 | RCV000029903; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189379 | 44189379 | NM_000162.3:c.659G>A | NP_000153.1:p.Cys220Tyr | NC_000007.13:g.44189379C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.658T>C (p.Cys220Arg) | 2645 | GCK | Likely pathogenic | 193922315 | RCV000029902; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189380 | 44189380 | NM_000162.3:c.658T>C | NP_000153.1:p.Cys220Arg | NC_000007.13:g.44189380A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.645C>G (p.Tyr215Ter) | 2645 | GCK | Pathogenic | 144723656 | RCV000029901; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189393 | 44189393 | NM_000162.3:c.645C>G | NP_000153.1:p.Tyr215Ter | NC_000007.13:g.44189393G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.635_637delCCT (p.Ser212del) | 2645 | GCK | Likely pathogenic | 193922314 | RCV000029900; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189401 | 44189403 | NM_000162.3:c.635_637delCCT | NP_000153.1:p.Ser212del | NC_000007.13:g.44189401_44189403delAGG | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.630G>T (p.Met210Ile) | 2645 | GCK | Likely pathogenic | 193922313 | RCV000029899; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189408 | 44189408 | NM_000162.3:c.630G>T | NP_000153.1:p.Met210Ile | NC_000007.13:g.44189408C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.629T>A (p.Met210Lys) | 2645 | GCK | Pathogenic | 80356654 | RCV000017521; RCV000190348; | N | MedGen:C1833104,OMIM:606176; MedGen:C1841962,OMIM:125851 | 7 | 44189409 | 44189409 | NM_000162.3:c.629T>A | NP_000153.1:p.Met210Lys | NC_000007.13:g.44189409A>T | OMIM Allelic Variant:138079.0010 | C1841962 125851 Maturity-onset diabetes of the young, type 2; C1833104 606176 Permanent neonatal diabetes mellitus | | |
NM_000162.3(GCK):c.618G>A (p.Thr206=) | 2645 | GCK | Likely benign | 142817246 | RCV000029898; RCV000117133; | N | MedGen:C1841962,OMIM:125851; MedGen:CN169374 | 7 | 44189420 | 44189420 | NM_000162.3:c.618G>A | NP_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) | 2645 | GCK | Likely pathogenic | 193922312 | RCV000029897; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189423 | 44189423 | NM_000162.3:c.615C>G | NP_000153.1:p.Asp205Glu | NC_000007.13:g.44189423G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.605T>C (p.Met202Thr) | 2645 | GCK | Likely pathogenic | 193922311 | RCV000029896; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189433 | 44189433 | NM_000162.3:c.605T>C | NP_000153.1:p.Met202Thr | NC_000007.13:g.44189433A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.604A>G (p.Met202Val) | 2645 | GCK | Likely pathogenic | 193922310 | RCV000029895; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189434 | 44189434 | NM_000162.3:c.604A>G | NP_000153.1:p.Met202Val | NC_000007.13:g.44189434T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.587A>G (p.Glu196Gly) | 2645 | GCK | Likely pathogenic | 193922309 | RCV000029894; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189451 | 44189451 | NM_000162.3:c.587A>G | NP_000153.1:p.Glu196Gly | NC_000007.13:g.44189451T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.563C>T (p.Ala188Val) | 2645 | GCK | Likely pathogenic | 193922307 | RCV000029892; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189584 | 44189584 | NM_000162.3:c.563C>T | NP_000153.1:p.Ala188Val | NC_000007.13:g.44189584G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.542T>C (p.Val181Ala) | 2645 | GCK | Likely pathogenic | 193922306 | RCV000029891; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189605 | 44189605 | NM_000162.3:c.542T>C | NP_000153.1:p.Val181Ala | NC_000007.13:g.44189605A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.532G>A (p.Gly178Arg) | 2645 | GCK | Likely pathogenic | 193922305 | RCV000029890; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189615 | 44189615 | NM_000162.3:c.532G>A | NP_000153.1:p.Gly178Arg | NC_000007.13:g.44189615C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.527C>G (p.Ala176Gly) | 2645 | GCK | Likely pathogenic | 193922304 | RCV000029889; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189620 | 44189620 | NM_000162.3:c.527C>G | NP_000153.1:p.Ala176Gly | NC_000007.13:g.44189620G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.509G>T (p.Gly170Val) | 2645 | GCK | Likely pathogenic | 193922303 | RCV000029888; | N | MedGen:C1841962,OMIM:125851 | 7 | 44189638 | 44189638 | NM_000162.3:c.509G>T | NP_000153.1:p.Gly170Val | NC_000007.13:g.44189638C>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.483G>A (p.Lys161=) | 2645 | GCK | Likely pathogenic | 193922302 | RCV000029887; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190555 | 44190555 | NM_000162.3:c.483G>A | NP_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) | 2645 | GCK | Likely pathogenic | 193922301 | RCV000029886; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190575 | 44190575 | NM_000162.3:c.463A>G | NP_000153.1:p.Arg155Gly | NC_000007.13:g.44190575T>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.457C>T (p.Pro153Ser) | 2645 | GCK | Likely pathogenic | 193922300 | RCV000029884; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190581 | 44190581 | NM_000162.3:c.457C>T | NP_000153.1:p.Pro153Ser | NC_000007.13:g.44190581G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.450C>T (p.Phe150=) | 2645 | GCK | Likely benign | 193922299 | RCV000029883; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190588 | 44190588 | NM_000162.3:c.450C>T | NP_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) | 2645 | GCK | Likely pathogenic | 193922297 | RCV000029881; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190589 | 44190589 | NM_000162.3:c.449T>C | NP_000153.1:p.Phe150Ser | NC_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) | 2645 | GCK | Likely pathogenic | 193922296 | RCV000029880; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190598 | 44190598 | NM_000162.3:c.440G>A | NP_000153.1:p.Gly147Asp | NC_000007.13:g.44190598C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.393delC (p.Asp132Thrfs) | 2645 | GCK | Likely pathogenic | 193922295 | RCV000029879; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190645 | 44190645 | NM_000162.3:c.393delC | NP_000153.1:p.Asp132Thrfs | NC_000007.13:g.44190645delG | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.391T>C (p.Ser131Pro) | 2645 | GCK | Pathogenic | 104894010 | RCV000017518; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190647 | 44190647 | NM_000162.3:c.391T>C | NP_000153.1:p.Ser131Pro | NC_000007.13:g.44190647A>G | OMIM Allelic Variant:138079.0007 | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.370G>A (p.Asp124Asn) | 2645 | GCK | Likely pathogenic | 759072800 | RCV000193215; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190668 | 44190668 | NM_000162.3:c.370G>A | NP_000153.1:p.Asp124Asn | NC_000007.13:g.44190668C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.364-35dupC | 2645 | GCK | Uncertain significance | 193922293 | RCV000029877; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190709 | 44190709 | NM_000162.3:c.364-35dupC | | NC_000007.13:g.44190709dupG | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.364-48dupC | 2645 | GCK | Uncertain significance | 193922294 | RCV000029878; | N | MedGen:C1841962,OMIM:125851 | 7 | 44190722 | 44190722 | NM_000162.3:c.364-48dupC | | NC_000007.13:g.44190722dupG | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.339C>T (p.Asp113=) | 2645 | GCK | Likely benign | 149412035 | RCV000029876; RCV000194993; | N | MedGen:C1841962,OMIM:125851; MedGen:CN169374 | 7 | 44191894 | 44191894 | NM_000162.3:c.339C>T | NP_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) | 2645 | GCK | Pathogenic | 797045595 | RCV000193318; | N | MedGen:C1841962,OMIM:125851 | 7 | 44191900 | 44191916 | NM_000162.3:c.317_333del17 | NP_000153.1:p.Gln106Argfs | NC_000007.13:g.44191900_44191916del17 | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.322T>G (p.Tyr108Asp) | 2645 | GCK | Likely pathogenic | 193922292 | RCV000029875; | N | MedGen:C1841962,OMIM:125851 | 7 | 44191911 | 44191911 | NM_000162.3:c.322T>G | NP_000153.1:p.Tyr108Asp | NC_000007.13:g.44191911A>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.304A>T (p.Lys102Ter) | 2645 | GCK | Likely pathogenic | 193922291 | RCV000029874; | N | MedGen:C1841962,OMIM:125851 | 7 | 44191929 | 44191929 | NM_000162.3:c.304A>T | NP_000153.1:p.Lys102Ter | NC_000007.13:g.44191929T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.253A>T (p.Arg85Trp) | 2645 | GCK | Likely pathogenic | 193922290 | RCV000029873; | N | MedGen:C1841962,OMIM:125851 | 7 | 44191980 | 44191980 | NM_000162.3:c.253A>T | NP_000153.1:p.Arg85Trp | NC_000007.13:g.44191980T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.214G>A (p.Gly72Arg) | 2645 | GCK | Pathogenic | 193922289 | RCV000029872; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192019 | 44192019 | NM_000162.3:c.214G>A | NP_000153.1:p.Gly72Arg | NC_000007.13:g.44192019C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.209-8G>A | 2645 | GCK | Uncertain significance | 144798843 | RCV000029871; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192032 | 44192032 | NM_000162.3:c.209-8G>A | | NC_000007.13:g.44192032C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.208+11G>A | 2645 | GCK | Uncertain significance | 77440690 | RCV000029869; RCV000195056; | N | MedGen:C1841962,OMIM:125851; MedGen:CN169374 | 7 | 44192889 | 44192889 | NM_000162.3:c.208+11G>A | | NC_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>A | 2645 | GCK | Uncertain significance | 193922288 | RCV000029870; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192891 | 44192891 | NM_000162.3:c.208+9T>A | | NC_000007.13:g.44192891A>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.175C>T (p.Pro59Ser) | 2645 | GCK | Likely pathogenic | 193922287 | RCV000029868; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192933 | 44192933 | NM_000162.3:c.175C>T | NP_000153.1:p.Pro59Ser | NC_000007.13:g.44192933G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.146C>A (p.Thr49Asn) | 2645 | GCK | Likely pathogenic | 193922286 | RCV000029867; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192962 | 44192962 | NM_000162.3:c.146C>A | NP_000153.1:p.Thr49Asn | NC_000007.13:g.44192962G>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.131G>A (p.Gly44Asp) | 2645 | GCK | Likely pathogenic | 193922279 | RCV000029859; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192977 | 44192977 | NM_000162.3:c.131G>A | NP_000153.1:p.Gly44Asp | NC_000007.13:g.44192977C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.118G>A (p.Glu40Lys) | 2645 | GCK | Pathogenic | 794727236 | RCV000175536; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192990 | 44192990 | NM_000162.3:c.118G>A | NP_000153.1:p.Glu40Lys | NC_000007.13:g.44192990C>T | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.117G>A (p.Lys39=) | 2645 | GCK | Likely benign | 193922270 | RCV000029849; | N | MedGen:C1841962,OMIM:125851 | 7 | 44192991 | 44192991 | NM_000162.3:c.117G>A | NP_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) | 2645 | GCK | Likely pathogenic | 193922261 | RCV000029836; | N | MedGen:C1841962,OMIM:125851 | 7 | 44193001 | 44193001 | NM_000162.3:c.107G>C | NP_000153.1:p.Arg36Pro | NC_000007.13:g.44193001C>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.103A>T (p.Arg35Ter) | 2645 | GCK | Likely pathogenic | 193922259 | RCV000029834; | N | MedGen:C1841962,OMIM:125851 | 7 | 44193005 | 44193005 | NM_000162.3:c.103A>T | NP_000153.1:p.Arg35Ter | NC_000007.13:g.44193005T>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.76C>T (p.Gln26Ter) | 2645 | GCK | Likely pathogenic | 193922329 | RCV000029919; | N | MedGen:C1841962,OMIM:125851 | 7 | 44193032 | 44193032 | NM_000162.3:c.76C>T | NP_000153.1:p.Gln26Ter | NC_000007.13:g.44193032G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.74T>G (p.Leu25Arg) | 2645 | GCK | Likely pathogenic | 193922325 | RCV000029913; | N | MedGen:C1841962,OMIM:125851 | 7 | 44193034 | 44193034 | NM_000162.3:c.74T>G | NP_000153.1:p.Leu25Arg | NC_000007.13:g.44193034A>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.57C>G (p.Ile19Met) | 2645 | GCK | Likely pathogenic | 193922308 | RCV000029893; | N | MedGen:C1841962,OMIM:125851 | 7 | 44193051 | 44193051 | NM_000162.3:c.57C>G | NP_000153.1:p.Ile19Met | NC_000007.13:g.44193051G>C | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |
NM_000162.3(GCK):c.46-12C>T | 2645 | GCK | Likely benign;Uncertain significance | 142829768 | RCV000029885; RCV000194380; | N | MedGen:C1841962,OMIM:125851; MedGen:CN169374 | 7 | 44193074 | 44193074 | NM_000162.3:c.46-12C>T | | NC_000007.13:g.44193074G>A | - | C1841962 125851 Maturity-onset diabetes of the young, type 2; CN169374 not specified | | |
NM_000162.3(GCK):c.-5T>C | 2645 | GCK | Uncertain significance | 193922251 | RCV000029826; | N | MedGen:C1841962,OMIM:125851 | 7 | 44228557 | 44228557 | NM_000162.3:c.-5T>C | | NC_000007.13:g.44228557A>G | - | C1841962 125851 Maturity-onset diabetes of the young, type 2 | | |