NM_000162.5(GCK):c.781G>C (p.Gly261Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003325963]|not provided [RCV000517324] |
Chr7:44147732 [GRCh38] Chr7:44187331 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.440del (p.Gly147fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002464019]|not provided [RCV000517744] |
Chr7:44150999 [GRCh38] Chr7:44190598 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463711]|Maturity-onset diabetes of the young type 2 [RCV002468586]|Monogenic diabetes [RCV003325965]|not provided [RCV000518714] |
Chr7:44146571 [GRCh38] Chr7:44186170 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463710]|Monogenic diabetes [RCV003325964]|not provided [RCV002527475]|not specified [RCV000516528] |
Chr7:44146599 [GRCh38] Chr7:44186198 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003318500]|not provided [RCV000518241] |
Chr7:44145614 [GRCh38] Chr7:44185213 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.483+10G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463699]|not specified [RCV000516929] |
Chr7:44150946 [GRCh38] Chr7:44190545 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285350]|Type 2 diabetes mellitus [RCV002490882]|not provided [RCV000516510] |
Chr7:44147720 [GRCh38] Chr7:44187319 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.46-2A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464233]|not provided [RCV000517853] |
Chr7:44153465 [GRCh38] Chr7:44193064 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) |
single nucleotide variant |
not provided [RCV000516548] |
Chr7:44145521 [GRCh38] Chr7:44185120 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.595G>A (p.Val199Met) |
single nucleotide variant |
Inborn genetic diseases [RCV001266633]|Maturity onset diabetes mellitus in young [RCV002463703]|not provided [RCV000516639] |
Chr7:44149844 [GRCh38] Chr7:44189443 [GRCh37] Chr7:7p13 |
likely risk allele|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.442T>A (p.Phe148Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464020]|Monogenic diabetes [RCV003403214]|not specified [RCV000518632] |
Chr7:44150997 [GRCh38] Chr7:44190596 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.1120G>A (p.Val374Met) |
single nucleotide variant |
Monogenic diabetes [RCV003403213]|not specified [RCV000517245] |
Chr7:44145630 [GRCh38] Chr7:44185229 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV000826165]|not provided [RCV000523346] |
Chr7:44149794 [GRCh38] Chr7:44189393 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.431T>C (p.Leu144Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464024]|not provided [RCV000523438] |
Chr7:44151008 [GRCh38] Chr7:44190607 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.483+14A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463700]|not provided [RCV002060239]|not specified [RCV000517895] |
Chr7:44150942 [GRCh38] Chr7:44190541 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.-17C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463698]|not provided [RCV002272273]|not specified [RCV000516256] |
Chr7:44188970 [GRCh38] Chr7:44228569 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.776C>T (p.Ala259Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002413397]|Monogenic diabetes [RCV003325962]|not specified [RCV000518148] |
Chr7:44147737 [GRCh38] Chr7:44187336 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance |
NM_033507.2(GCK):c.488del |
deletion |
Maturity onset diabetes mellitus in young [RCV002463701]|not provided [RCV000516477] |
Chr7:44150063 [GRCh38] Chr7:44189662 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1020-1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463693]|not provided [RCV000517137] |
Chr7:44145731 [GRCh38] Chr7:44185330 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) |
single nucleotide variant |
Monogenic diabetes [RCV003318502]|Type 2 diabetes mellitus [RCV002506251]|not provided [RCV000518502] |
Chr7:44149793 [GRCh38] Chr7:44189392 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1019+2T>G |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000020164]|not provided [RCV000599197] |
Chr7:44146461 [GRCh38] Chr7:44186060 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) |
single nucleotide variant |
Monogenic diabetes [RCV003325943]|Permanent neonatal diabetes mellitus [RCV000020165] |
Chr7:44145617 [GRCh38] Chr7:44185216 [GRCh37] Chr7:7p13 |
pathogenic|not provided |
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003318494]|Permanent neonatal diabetes mellitus [RCV000020166]|not provided [RCV000518294] |
Chr7:44145560 [GRCh38] Chr7:44185159 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|not provided |
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003398550]|Permanent neonatal diabetes mellitus [RCV000020168] |
Chr7:44147723 [GRCh38] Chr7:44187322 [GRCh37] Chr7:7p13 |
pathogenic|not provided |
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000032978] |
Chr7:44146467 [GRCh38] Chr7:44186066 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.45+11C>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463597]|Neonatal diabetes mellitus [RCV000029882] |
Chr7:44188898 [GRCh38] Chr7:44228497 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000017512] |
Chr7:44147678 [GRCh38] Chr7:44187277 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.556C>T (p.Arg186Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002345246]|Maturity-onset diabetes of the young type 2 [RCV002225072]|Type 2 diabetes mellitus [RCV000017513]|not provided [RCV000516235] |
Chr7:44149992 [GRCh38] Chr7:44189591 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.683C>T (p.Thr228Met) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV003147296]|Maturity onset diabetes mellitus in young [RCV002362586]|Maturity-onset diabetes of the young type 2 [RCV000020167]|Permanent neonatal diabetes mellitus 1 [RCV001269032]|Type 2 diabetes mellitus [RCV003147295]|not provided [RCV000498792] |
Chr7:44147830 [GRCh38] Chr7:44187429 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV001507008]|Maturity-onset diabetes of the young type 2 [RCV000017515]|Maturity-onset diabetes of the young type 3 [RCV003445078]|Monogenic diabetes [RCV003325940]|not provided [RCV000426797] |
Chr7:44147732 [GRCh38] Chr7:44187331 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000017516]|not provided [RCV001288185] |
Chr7:44146587 [GRCh38] Chr7:44186186 [GRCh37] Chr7:7p13 |
pathogenic |
GCK, IVS4DS, 15-BP DEL |
deletion |
Maturity-onset diabetes of the young type 2 [RCV000017517] |
Chr7:7p15-p13 |
pathogenic |
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV003147298]|Maturity-onset diabetes of the young type 2 [RCV000017518]|Permanent neonatal diabetes mellitus 1 [RCV003147299]|Type 2 diabetes mellitus [RCV003147297]|not provided [RCV002513078] |
Chr7:44151048 [GRCh38] Chr7:44190647 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000017519]|not provided [RCV000517435] |
Chr7:44147720 [GRCh38] Chr7:44187319 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1363G>A (p.Val455Met) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000017520]|not provided [RCV002513079] |
Chr7:44145171 [GRCh38] Chr7:44184770 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.629T>A (p.Met210Lys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000190348]|Monogenic diabetes [RCV003318493]|Permanent neonatal diabetes mellitus 1 [RCV001281107]|Permanent neonatal diabetes mellitus [RCV000017521] |
Chr7:44149810 [GRCh38] Chr7:44189409 [GRCh37] Chr7:7p13 |
pathogenic|not provided |
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000017525]|not provided [RCV001818166] |
Chr7:44145167 [GRCh38] Chr7:44184766 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000017526] |
Chr7:44149798 [GRCh38] Chr7:44189397 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000017527]|Monogenic diabetes [RCV003325941]|not provided [RCV002513080] |
Chr7:44145618 [GRCh38] Chr7:44185217 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.271G>Y (p.Val91Leu) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000017528] |
Chr7:44152363 [GRCh38] Chr7:44191962 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.499T>C (p.Trp167Arg) |
single nucleotide variant |
not provided [RCV000766929]|not specified [RCV000517391] |
Chr7:44150049 [GRCh38] Chr7:44189648 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.295T>C (p.Trp99Arg) |
single nucleotide variant |
not provided [RCV000518344] |
Chr7:44152339 [GRCh38] Chr7:44191938 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464023]|Maturity-onset diabetes of the young type 2 [RCV002285349]|not provided [RCV000516357] |
Chr7:44150961 [GRCh38] Chr7:44190560 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele |
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463694]|not provided [RCV000516400] |
Chr7:44145601..44145617 [GRCh38] Chr7:44185200..44185216 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.208+16C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464231]|not specified [RCV000516194] |
Chr7:44153285 [GRCh38] Chr7:44192884 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.1235T>G (p.Val412Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463696]|not specified [RCV000517802] |
Chr7:44145515 [GRCh38] Chr7:44185114 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.187C>T (p.Arg63Cys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464230]|not specified [RCV000518077] |
Chr7:44153322 [GRCh38] Chr7:44192921 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.590T>C (p.Met197Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463702]|not specified [RCV000518379] |
Chr7:44149849 [GRCh38] Chr7:44189448 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.363+6C>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464232]|not provided [RCV001531038]|not specified [RCV000518456] |
Chr7:44152265 [GRCh38] Chr7:44191864 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) |
single nucleotide variant |
Monogenic diabetes [RCV003330318]|not specified [RCV000516508] |
Chr7:44145608 [GRCh38] Chr7:44185207 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.370G>C (p.Asp124His) |
single nucleotide variant |
not provided [RCV000516818] |
Chr7:44151069 [GRCh38] Chr7:44190668 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.682A>G (p.Thr228Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002367714]|Monogenic diabetes [RCV001248971]|not provided [RCV000516688] |
Chr7:44147831 [GRCh38] Chr7:44187430 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.908G>T (p.Arg303Leu) |
single nucleotide variant |
not provided [RCV000517815] |
Chr7:44146574 [GRCh38] Chr7:44186173 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.686del (p.Gly229fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463704]|not provided [RCV000518517] |
Chr7:44147827 [GRCh38] Chr7:44187426 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.-5T>C |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463590]|Maturity-onset diabetes of the young type 2 [RCV000029826] |
Chr7:44188958 [GRCh38] Chr7:44228557 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) |
indel |
Maturity onset diabetes mellitus in young [RCV002463591]|Maturity-onset diabetes of the young type 2 [RCV000029827] |
Chr7:44146479..44146480 [GRCh38] Chr7:44186078..44186079 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) |
insertion |
Maturity onset diabetes mellitus in young [RCV002464073]|Maturity-onset diabetes of the young type 2 [RCV000029828] |
Chr7:44146478..44146479 [GRCh38] Chr7:44186077..44186078 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.1003del (p.Val335fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002390120]|Monogenic diabetes [RCV003317047]|not provided [RCV000255354] |
Chr7:44146479 [GRCh38] Chr7:44186078 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463592]|Maturity-onset diabetes of the young type 2 [RCV000029830] |
Chr7:44146464 [GRCh38] Chr7:44186063 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1019+16G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029831] |
Chr7:44146447 [GRCh38] Chr7:44186046 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1020-10C>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003152667]|not provided [RCV000518539]|not specified [RCV000029832] |
Chr7:44145740 [GRCh38] Chr7:44185339 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1020-1G>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029833] |
Chr7:44145731 [GRCh38] Chr7:44185330 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463995]|Maturity-onset diabetes of the young type 2 [RCV000029834] |
Chr7:44153406 [GRCh38] Chr7:44193005 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029835] |
Chr7:44145708 [GRCh38] Chr7:44185307 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029836] |
Chr7:44153402 [GRCh38] Chr7:44193001 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029837] |
Chr7:44145636 [GRCh38] Chr7:44185235 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463593]|Maturity-onset diabetes of the young type 2 [RCV000029838] |
Chr7:44145626 [GRCh38] Chr7:44185225 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1130G>A (p.Arg377His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002321490]|Maturity-onset diabetes of the young type 2 [RCV000029839]|Monogenic diabetes [RCV003325945]|not provided [RCV001818186]|not specified [RCV000518143] |
Chr7:44145620 [GRCh38] Chr7:44185219 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002444444]|Maturity-onset diabetes of the young type 2 [RCV000029840]|Monogenic diabetes [RCV003318495]|not provided [RCV001642240] |
Chr7:44145614 [GRCh38] Chr7:44185213 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1142T>G (p.Met381Arg) |
single nucleotide variant |
Monogenic diabetes [RCV002281721] |
Chr7:44145608 [GRCh38] Chr7:44185207 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463594]|Maturity-onset diabetes of the young type 2 [RCV000029842] |
Chr7:44145597 [GRCh38] Chr7:44185196 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002285137]|Maturity-onset diabetes of the young type 2 [RCV000029843]|not provided [RCV000517698] |
Chr7:44145593 [GRCh38] Chr7:44185192 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029844] |
Chr7:44145590 [GRCh38] Chr7:44185189 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029845]|Monogenic diabetes [RCV001248970]|not provided [RCV000493278] |
Chr7:44145590 [GRCh38] Chr7:44185189 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029846] |
Chr7:44145581 [GRCh38] Chr7:44185180 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029847] |
Chr7:44145581 [GRCh38] Chr7:44185180 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463595]|Maturity-onset diabetes of the young type 2 [RCV000029848]|Monogenic diabetes [RCV003330312] |
Chr7:44145575 [GRCh38] Chr7:44185174 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.117G>A (p.Lys39=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463996]|Maturity-onset diabetes of the young type 2 [RCV000029849] |
Chr7:44153392 [GRCh38] Chr7:44192991 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002345255]|Maturity-onset diabetes of the young type 2 [RCV000029850]|not provided [RCV001288976]|not specified [RCV003234925] |
Chr7:44145543 [GRCh38] Chr7:44185142 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) |
single nucleotide variant |
GCK-related condition [RCV003398573]|Maturity-onset diabetes of the young type 2 [RCV000029851]|Monogenic diabetes [RCV001248969]|not provided [RCV000711759] |
Chr7:44145510 [GRCh38] Chr7:44185109 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029852] |
Chr7:44145266 [GRCh38] Chr7:44184865 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) |
indel |
Maturity onset diabetes mellitus in young [RCV002287343]|Maturity-onset diabetes of the young type 2 [RCV000029853]|Monogenic diabetes [RCV003445083] |
Chr7:44145176..44145255 [GRCh38] Chr7:44184775..44184854 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) |
microsatellite |
Maturity onset diabetes mellitus in young [RCV002287344]|Maturity-onset diabetes of the young type 2 [RCV000029854]|Monogenic diabetes [RCV003313031] |
Chr7:44145250..44145251 [GRCh38] Chr7:44184849..44184850 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1285A>C (p.Arg429=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463430]|Maturity-onset diabetes of the young type 2 [RCV000029855]|Monogenic diabetes [RCV003313032] |
Chr7:44145249 [GRCh38] Chr7:44184848 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1288C>T (p.Leu430=) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029856]|not provided [RCV000710138]|not specified [RCV000501325] |
Chr7:44145246 [GRCh38] Chr7:44184845 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463431]|Maturity-onset diabetes of the young type 2 [RCV000029857] |
Chr7:44145245 [GRCh38] Chr7:44184844 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029858] |
Chr7:44145227 [GRCh38] Chr7:44184826 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029859]|not provided [RCV001659731] |
Chr7:44153378 [GRCh38] Chr7:44192977 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1332del (p.Ser445fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287345]|Maturity-onset diabetes of the young type 2 [RCV000029860]|Monogenic diabetes [RCV003313033] |
Chr7:44145202 [GRCh38] Chr7:44184801 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002381268]|Maturity-onset diabetes of the young type 2 [RCV000029861]|not provided [RCV001288979] |
Chr7:44145195 [GRCh38] Chr7:44184794 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029862] |
Chr7:44145189 [GRCh38] Chr7:44184788 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285258]|Monogenic diabetes [RCV002271378]|Permanent neonatal diabetes mellitus [RCV000763582]|not provided [RCV000517061] |
Chr7:44145176 [GRCh38] Chr7:44184775 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287346]|Maturity-onset diabetes of the young type 2 [RCV000029864]|Monogenic diabetes [RCV003325946] |
Chr7:44145161..44145162 [GRCh38] Chr7:44184760..44184761 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162069]|Maturity onset diabetes mellitus in young [RCV002463596]|Maturity-onset diabetes of the young type 2 [RCV001162070]|Monogenic diabetes [RCV003325947]|Permanent neonatal diabetes mellitus [RCV001162072]|Transient Neonatal Diabetes, Recessive [RCV001162071]|Type 2 diabetes mellitus [RCV002496452]|not provided [RCV000711768]|not specified [RCV000029865] |
Chr7:44145148 [GRCh38] Chr7:44184747 [GRCh37] Chr7:7p13 |
likely pathogenic|likely benign|uncertain risk allele|uncertain significance |
p.X466Trp |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029866] |
Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029867]|Monogenic diabetes [RCV003325948] |
Chr7:44153363 [GRCh38] Chr7:44192962 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029868]|not provided [RCV000518012] |
Chr7:44153334 [GRCh38] Chr7:44192933 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.208+11G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162367]|Maturity-onset diabetes of the young type 2 [RCV000029869]|Permanent neonatal diabetes mellitus [RCV001162366]|Transient Neonatal Diabetes, Recessive [RCV001162365]|Type 2 diabetes mellitus [RCV001336705]|not provided [RCV002054493]|not specified [RCV000195056] |
Chr7:44153290 [GRCh38] Chr7:44192889 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.208+9T>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465490]|Maturity-onset diabetes of the young type 2 [RCV000029870] |
Chr7:44153292 [GRCh38] Chr7:44192891 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.209-8G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000302206]|Maturity-onset diabetes of the young type 2 [RCV000305726]|Permanent neonatal diabetes mellitus [RCV000359365]|Transient Neonatal Diabetes, Recessive [RCV000266999]|not provided [RCV000886070]|not specified [RCV000249810] |
Chr7:44152433 [GRCh38] Chr7:44192032 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002426523]|Maturity-onset diabetes of the young type 2 [RCV000029872]|Monogenic diabetes [RCV001248967]|not provided [RCV000255585] |
Chr7:44152420 [GRCh38] Chr7:44192019 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465491]|Maturity-onset diabetes of the young type 2 [RCV000029873] |
Chr7:44152381 [GRCh38] Chr7:44191980 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463997]|Maturity-onset diabetes of the young type 2 [RCV000029874] |
Chr7:44152330 [GRCh38] Chr7:44191929 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463998]|Maturity-onset diabetes of the young type 2 [RCV000029875] |
Chr7:44152312 [GRCh38] Chr7:44191911 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.339C>T (p.Asp113=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000351983]|Maturity onset diabetes mellitus in young [RCV002319428]|Maturity-onset diabetes of the young type 2 [RCV000029876]|Permanent neonatal diabetes mellitus [RCV000294733]|Transient Neonatal Diabetes, Recessive [RCV000394689]|Type 2 diabetes mellitus [RCV002504829]|not provided [RCV000967046]|not specified [RCV000194993] |
Chr7:44152295 [GRCh38] Chr7:44191894 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.364-41dup |
duplication |
Maturity onset diabetes mellitus in young [RCV002463999]|Maturity-onset diabetes of the young type 2 [RCV000029877] |
Chr7:44151109..44151110 [GRCh38] Chr7:44190708..44190709 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.364-49dup |
duplication |
Maturity onset diabetes mellitus in young [RCV002464000]|Maturity-onset diabetes of the young type 2 [RCV000029878] |
Chr7:44151122..44151123 [GRCh38] Chr7:44190721..44190722 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.393del (p.Asp132fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002371785]|Maturity-onset diabetes of the young type 2 [RCV000029879] |
Chr7:44151046 [GRCh38] Chr7:44190645 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) |
single nucleotide variant |
Monogenic diabetes [RCV001248972]|not specified [RCV002271379] |
Chr7:44150999 [GRCh38] Chr7:44190598 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029881]|not provided [RCV000432293] |
Chr7:44150990 [GRCh38] Chr7:44190589 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.450C>T (p.Phe150=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464074]|Maturity-onset diabetes of the young type 2 [RCV000029883] |
Chr7:44150989 [GRCh38] Chr7:44190588 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002336092]|not provided [RCV000991335]|not specified [RCV000516927] |
Chr7:44150982 [GRCh38] Chr7:44190581 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.46-12C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000344829]|Maturity onset diabetes mellitus in young [RCV002336093]|Maturity-onset diabetes of the young type 2 [RCV000029885]|Permanent neonatal diabetes mellitus [RCV000388709]|Transient Neonatal Diabetes, Recessive [RCV000296692]|not provided [RCV000711774]|not specified [RCV000194380] |
Chr7:44153475 [GRCh38] Chr7:44193074 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002336094]|Maturity-onset diabetes of the young type 2 [RCV000029886]|not provided [RCV001753431] |
Chr7:44150976 [GRCh38] Chr7:44190575 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.483G>A (p.Lys161=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464001]|Maturity-onset diabetes of the young type 2 [RCV000029887]|Monogenic diabetes [RCV003234538]|not provided [RCV003482231] |
Chr7:44150956 [GRCh38] Chr7:44190555 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.509G>T (p.Gly170Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029888] |
Chr7:44150039 [GRCh38] Chr7:44189638 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463598]|Maturity-onset diabetes of the young type 2 [RCV000029889] |
Chr7:44150021 [GRCh38] Chr7:44189620 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463599]|Maturity-onset diabetes of the young type 2 [RCV000029890] |
Chr7:44150016 [GRCh38] Chr7:44189615 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.542T>C (p.Val181Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002345256]|Maturity-onset diabetes of the young type 2 [RCV000029891]|not provided [RCV000992053] |
Chr7:44150006 [GRCh38] Chr7:44189605 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele|uncertain significance |
NM_000162.5(GCK):c.563C>T (p.Ala188Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463600]|Maturity-onset diabetes of the young type 2 [RCV000029892] |
Chr7:44149985 [GRCh38] Chr7:44189584 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.57C>G (p.Ile19Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029893] |
Chr7:44153452 [GRCh38] Chr7:44193051 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463601]|Maturity-onset diabetes of the young type 2 [RCV000029894] |
Chr7:44149852 [GRCh38] Chr7:44189451 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.604A>G (p.Met202Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463602]|Maturity-onset diabetes of the young type 2 [RCV000029895] |
Chr7:44149835 [GRCh38] Chr7:44189434 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.605T>C (p.Met202Thr) |
single nucleotide variant |
Monogenic diabetes [RCV003445084]|not provided [RCV000711779]|not specified [RCV000029896] |
Chr7:44149834 [GRCh38] Chr7:44189433 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463603]|Maturity-onset diabetes of the young type 2 [RCV000029897]|not provided [RCV002513252] |
Chr7:44149824 [GRCh38] Chr7:44189423 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.618G>A (p.Thr206=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000398402]|Maturity onset diabetes mellitus in young [RCV002319429]|Maturity-onset diabetes of the young type 2 [RCV000029898]|Permanent neonatal diabetes mellitus [RCV000311587]|Transient Neonatal Diabetes, Recessive [RCV000398687]|not provided [RCV000906581]|not specified [RCV000117133] |
Chr7:44149821 [GRCh38] Chr7:44189420 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.630G>T (p.Met210Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002362597]|Maturity-onset diabetes of the young type 2 [RCV000029899]|Monogenic diabetes [RCV003318496] |
Chr7:44149809 [GRCh38] Chr7:44189408 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.635_637del (p.Ser212del) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287347]|Maturity-onset diabetes of the young type 2 [RCV000029900]|not provided [RCV000482920] |
Chr7:44149802..44149804 [GRCh38] Chr7:44189401..44189403 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029901]|not provided [RCV000421286] |
Chr7:44149794 [GRCh38] Chr7:44189393 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029902]|Monogenic diabetes [RCV003445085] |
Chr7:44149781 [GRCh38] Chr7:44189380 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002371786]|Maturity-onset diabetes of the young type 2 [RCV000029903] |
Chr7:44149780 [GRCh38] Chr7:44189379 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.661G>A (p.Glu221Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002371787]|Maturity-onset diabetes of the young type 2 [RCV000029904]|Monogenic diabetes [RCV003155041]|not provided [RCV000711781] |
Chr7:44149778 [GRCh38] Chr7:44189377 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.666C>T (p.Val222=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162165]|Maturity onset diabetes mellitus in young [RCV002362598]|Maturity-onset diabetes of the young type 2 [RCV000029905]|Permanent neonatal diabetes mellitus [RCV001164186]|Transient Neonatal Diabetes, Recessive [RCV001162166]|Type 2 diabetes mellitus [RCV003335057]|not provided [RCV000927962]|not specified [RCV000516740] |
Chr7:44149773 [GRCh38] Chr7:44189372 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.676G>A (p.Val226Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV000825615]|Maturity-onset diabetes of the young type 2 [RCV000029906]|Monogenic diabetes [RCV003155042]|Type 2 diabetes mellitus [RCV002477021]|not provided [RCV000255932] |
Chr7:44149763 [GRCh38] Chr7:44189362 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.677T>C (p.Val226Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463604]|Maturity-onset diabetes of the young type 2 [RCV000029907]|Monogenic diabetes [RCV003398574] |
Chr7:44149762 [GRCh38] Chr7:44189361 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.679+1del |
deletion |
Maturity onset diabetes mellitus in young [RCV002463605]|Maturity-onset diabetes of the young type 2 [RCV000029908] |
Chr7:44149759 [GRCh38] Chr7:44189358 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.680-94dup |
duplication |
Maturity onset diabetes mellitus in young [RCV002463606]|Maturity-onset diabetes of the young type 2 [RCV000029909] |
Chr7:44147922..44147923 [GRCh38] Chr7:44187521..44187522 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463607]|Maturity-onset diabetes of the young type 2 [RCV000029910] |
Chr7:44147819 [GRCh38] Chr7:44187418 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.704T>C (p.Met235Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029911] |
Chr7:44147809 [GRCh38] Chr7:44187408 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.723G>A (p.Val241=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463608]|Maturity-onset diabetes of the young type 2 [RCV000029912] |
Chr7:44147790 [GRCh38] Chr7:44187389 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464075]|Maturity-onset diabetes of the young type 2 [RCV000029913] |
Chr7:44153435 [GRCh38] Chr7:44193034 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.752T>C (p.Met251Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029914] |
Chr7:44147761 [GRCh38] Chr7:44187360 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.758T>C (p.Val253Ala) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029915]|not provided [RCV002472937] |
Chr7:44147755 [GRCh38] Chr7:44187354 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.758T>G (p.Val253Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463609]|Maturity-onset diabetes of the young type 2 [RCV000029916]|not provided [RCV002472938] |
Chr7:44147755 [GRCh38] Chr7:44187354 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele|uncertain significance |
NM_000162.5(GCK):c.760A>C (p.Asn254His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029917]|not provided [RCV001562130] |
Chr7:44147753 [GRCh38] Chr7:44187352 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463610]|Maturity-onset diabetes of the young type 2 [RCV000029918] |
Chr7:44147745 [GRCh38] Chr7:44187344 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002326691]|Maturity-onset diabetes of the young type 2 [RCV000029919]|not provided [RCV000255007] |
Chr7:44153433 [GRCh38] Chr7:44193032 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463611]|Maturity-onset diabetes of the young type 2 [RCV000029920] |
Chr7:44147734 [GRCh38] Chr7:44187333 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) |
single nucleotide variant |
Gestational diabetes [RCV000117135]|Maturity onset diabetes mellitus in young [RCV000826166]|Maturity-onset diabetes of the young type 2 [RCV000029921]|Type 2 diabetes mellitus [RCV002467500]|not provided [RCV000517906] |
Chr7:44147726 [GRCh38] Chr7:44187325 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463612]|Maturity-onset diabetes of the young type 2 [RCV000029922] |
Chr7:44147701 [GRCh38] Chr7:44187300 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.833A>T (p.Asp278Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463613]|Maturity-onset diabetes of the young type 2 [RCV000029923]|not provided [RCV000992065] |
Chr7:44147680 [GRCh38] Chr7:44187279 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.863+3A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463614]|Maturity-onset diabetes of the young type 2 [RCV000029924]|not provided [RCV000518267] |
Chr7:44147647 [GRCh38] Chr7:44187246 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
GCK:c.864-159_864-149del |
deletion |
Maturity onset diabetes mellitus in young [RCV002463615]|Maturity-onset diabetes of the young type 2 [RCV000029925] |
Chr7:44146767..44146777 [GRCh38] Chr7:44186366..44186376 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) |
single nucleotide variant |
Diabetes mellitus [RCV002285138]|Maturity-onset diabetes of the young type 2 [RCV000029926]|Type 2 diabetes mellitus [RCV002490414]|not provided [RCV000521942] |
Chr7:44146611 [GRCh38] Chr7:44186210 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002371788]|Maturity-onset diabetes of the young type 2 [RCV000029927]|not provided [RCV000711788] |
Chr7:44146575 [GRCh38] Chr7:44186174 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002444445]|Maturity-onset diabetes of the young type 2 [RCV000029928]|not provided [RCV000992070] |
Chr7:44146565 [GRCh38] Chr7:44186164 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.944T>A (p.Leu315His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029929]|not provided [RCV001818187] |
Chr7:44146538 [GRCh38] Chr7:44186137 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463616]|Maturity-onset diabetes of the young type 2 [RCV000029930] |
Chr7:44146535 [GRCh38] Chr7:44186134 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002371789]|Maturity-onset diabetes of the young type 2 [RCV000029931]|not provided [RCV002472939] |
Chr7:44146530 [GRCh38] Chr7:44186129 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.954G>C (p.Gly318=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002326692]|Maturity-onset diabetes of the young type 2 [RCV000029932]|Type 2 diabetes mellitus [RCV002504830]|not provided [RCV000896007]|not specified [RCV000250733] |
Chr7:44146528 [GRCh38] Chr7:44186127 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.971T>C (p.Leu324Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000029933]|not provided [RCV003482232] |
Chr7:44146511 [GRCh38] Chr7:44186110 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
Single allele |
duplication |
Maturity-onset diabetes of the young type 2 [RCV000029934] |
Chr7:7p13 |
likely pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 |
copy number loss |
See cases [RCV000053132] |
Chr7:39814159..45749735 [GRCh38] Chr7:39853758..45789334 [GRCh37] Chr7:39820283..45755859 [NCBI36] Chr7:7p14.1-12.3 |
pathogenic |
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 |
copy number gain |
See cases [RCV000053532] |
Chr7:33328312..62377476 [GRCh38] Chr7:33367924..61831899 [GRCh37] Chr7:33334449..61469334 [NCBI36] Chr7:7p14.3-q11.21 |
pathogenic |
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285265]|not provided [RCV000992045] |
Chr7:44153379 [GRCh38] Chr7:44192978 [GRCh37] Chr7:44159503 [NCBI36] Chr7:7p13 |
pathogenic|likely pathogenic|not provided |
NM_000162.3(GCK):c.1329G>A (p.Glu443=) |
single nucleotide variant |
Malignant melanoma [RCV000061652] |
Chr7:44145205 [GRCh38] Chr7:44184804 [GRCh37] Chr7:44151329 [NCBI36] Chr7:7p13 |
not provided |
NM_000162.3(GCK):c.635C>T (p.Ser212Phe) |
single nucleotide variant |
Malignant melanoma [RCV000061653] |
Chr7:44149804 [GRCh38] Chr7:44189403 [GRCh37] Chr7:44155928 [NCBI36] Chr7:7p13 |
not provided |
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) |
single nucleotide variant |
Gestational diabetes [RCV000117127]|Monogenic diabetes [RCV003325949] |
Chr7:44145638 [GRCh38] Chr7:44185237 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002321595]|Monogenic diabetes [RCV000445425]|not provided [RCV000428003]|not specified [RCV000117128] |
Chr7:44188923 [GRCh38] Chr7:44228522 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV003226201]|not provided [RCV000117129] |
Chr7:44150990 [GRCh38] Chr7:44190589 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002336252]|Monogenic diabetes [RCV003318498]|not provided [RCV000117130] |
Chr7:44150025 [GRCh38] Chr7:44189624 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.544G>A (p.Val182Met) |
single nucleotide variant |
Gestational diabetes [RCV000117131]|Maturity onset diabetes mellitus in young [RCV002345419]|Maturity-onset diabetes of the young type 2 [RCV001248908]|Permanent neonatal diabetes mellitus [RCV000763586]|not provided [RCV000255191] |
Chr7:44150004 [GRCh38] Chr7:44189603 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) |
single nucleotide variant |
Gestational diabetes [RCV000117132]|Maturity onset diabetes mellitus in young [RCV003343641]|Monogenic diabetes [RCV001844042]|not provided [RCV000497903] |
Chr7:44149823 [GRCh38] Chr7:44189422 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.706G>A (p.Glu236Lys) |
single nucleotide variant |
Gestational diabetes [RCV000117134] |
Chr7:44147807 [GRCh38] Chr7:44187406 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1253+8C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000291162]|Maturity onset diabetes mellitus in young [RCV002227062]|Maturity-onset diabetes of the young type 2 [RCV000285372]|Permanent neonatal diabetes mellitus [RCV000377488]|Transient Neonatal Diabetes, Recessive [RCV000320390]|not provided [RCV001518341]|not specified [RCV000117136] |
Chr7:44145489 [GRCh38] Chr7:44185088 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.576A>C (p.Arg192Ser) |
single nucleotide variant |
not provided [RCV003223813] |
Chr7:44149972 [GRCh38] Chr7:44189571 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003388832]|not provided [RCV000175536] |
Chr7:44153391 [GRCh38] Chr7:44192990 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 |
copy number loss |
See cases [RCV000136092] |
Chr7:40534157..56107122 [GRCh38] Chr7:40573756..56174815 [GRCh37] Chr7:40540281..56142309 [NCBI36] Chr7:7p14.1-11.2 |
pathogenic |
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 |
copy number loss |
See cases [RCV000136904] |
Chr7:40020598..50543500 [GRCh38] Chr7:40060197..50611198 [GRCh37] Chr7:40026722..50578692 [NCBI36] Chr7:7p14.1-12.1 |
pathogenic |
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 |
copy number loss |
See cases [RCV000137139] |
Chr7:37303478..48660738 [GRCh38] Chr7:37343082..48700334 [GRCh37] Chr7:37309607..48670880 [NCBI36] Chr7:7p14.1-12.3 |
pathogenic |
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 |
copy number loss |
See cases [RCV000137305] |
Chr7:39063400..45363096 [GRCh38] Chr7:39103000..45402695 [GRCh37] Chr7:39069525..45369220 [NCBI36] Chr7:7p14.1-13 |
pathogenic |
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 |
copy number loss |
See cases [RCV000142297] |
Chr7:38177999..45304100 [GRCh38] Chr7:38217601..45343699 [GRCh37] Chr7:38184126..45310224 [NCBI36] Chr7:7p14.1-13 |
pathogenic |
NM_000162.5(GCK):c.735G>A (p.Glu245=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463659]|not specified [RCV000192589] |
Chr7:44147778 [GRCh38] Chr7:44187377 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463660]|Type 2 diabetes mellitus [RCV002478669]|not specified [RCV000193049] |
Chr7:44147729 [GRCh38] Chr7:44187328 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464011]|Maturity-onset diabetes of the young type 2 [RCV000193215]|Monogenic diabetes [RCV001248968]|not provided [RCV000518229] |
Chr7:44151069 [GRCh38] Chr7:44190668 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.333C>T (p.Pro111=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000308226]|Maturity onset diabetes mellitus in young [RCV002321774]|Maturity-onset diabetes of the young type 2 [RCV000394688]|Permanent neonatal diabetes mellitus [RCV000365187]|Transient Neonatal Diabetes, Recessive [RCV000402147]|Type 2 diabetes mellitus [RCV002503754]|not provided [RCV000908991]|not specified [RCV000194163] |
Chr7:44152301 [GRCh38] Chr7:44191900 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002354464]|Maturity-onset diabetes of the young type 2 [RCV002272161]|not provided [RCV000711778] |
Chr7:44149838 [GRCh38] Chr7:44189437 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463657]|Maturity-onset diabetes of the young type 2 [RCV002051823]|Monogenic diabetes [RCV003445614]|not provided [RCV000711783]|not specified [RCV002509283] |
Chr7:44147825 [GRCh38] Chr7:44187424 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.*477C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000259194]|Maturity onset diabetes mellitus in young [RCV002319490]|Maturity-onset diabetes of the young type 2 [RCV000361041]|Permanent neonatal diabetes mellitus [RCV000304023]|Transient Neonatal Diabetes, Recessive [RCV000316828]|not provided [RCV001643090] |
Chr7:44144659 [GRCh38] Chr7:44184258 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) |
single nucleotide variant |
Monogenic diabetes [RCV003313054]|Type 2 diabetes mellitus [RCV003335189]|not provided [RCV000880473]|not specified [RCV000194319] |
Chr7:44147678 [GRCh38] Chr7:44187277 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.317_333del (p.Gln106fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002464140]|Maturity-onset diabetes of the young type 2 [RCV000193318] |
Chr7:44152301..44152317 [GRCh38] Chr7:44191900..44191916 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463661]|Maturity-onset diabetes of the young type 2 [RCV000203555] |
Chr7:44145720 [GRCh38] Chr7:44185319 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.951C>G (p.His317Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285351]|Type 2 diabetes mellitus [RCV002476041]|not provided [RCV000516618]|not specified [RCV003235263] |
Chr7:44146531 [GRCh38] Chr7:44186130 [GRCh37] Chr7:7p13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464012]|Maturity-onset diabetes of the young type 2 [RCV000225041]|not provided [RCV002516247] |
Chr7:44153397 [GRCh38] Chr7:44192996 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.89T>C (p.Leu30Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000223803] |
Chr7:44153420 [GRCh38] Chr7:44193019 [GRCh37] Chr7:7p13 |
likely pathogenic|benign |
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000225001]|Monogenic diabetes [RCV003226260]|not provided [RCV000420976] |
Chr7:44145602 [GRCh38] Chr7:44185201 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463723]|Maturity-onset diabetes of the young type 2 [RCV000625570] |
Chr7:44146493 [GRCh38] Chr7:44186092 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1155dup (p.Leu386fs) |
duplication |
not provided [RCV000516765] |
Chr7:44145594..44145595 [GRCh38] Chr7:44185193..44185194 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463706]|not provided [RCV000516870] |
Chr7:44147744 [GRCh38] Chr7:44187343 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.763_779dup (p.Phe260fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002463705]|not provided [RCV000518045] |
Chr7:44147733..44147734 [GRCh38] Chr7:44187332..44187333 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.757G>T (p.Val253Phe) |
single nucleotide variant |
not provided [RCV000519193] |
Chr7:44147756 [GRCh38] Chr7:44187355 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.580-1G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285354]|not provided [RCV000519932] |
Chr7:44149860 [GRCh38] Chr7:44189459 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1268T>C (p.Phe423Ser) |
single nucleotide variant |
not specified [RCV000516995] |
Chr7:44145266 [GRCh38] Chr7:44184865 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002341208]|Type 2 diabetes mellitus [RCV002496997]|not provided [RCV000517004] |
Chr7:44150970 [GRCh38] Chr7:44190569 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) |
single nucleotide variant |
GCK-related condition [RCV003419896]|Maturity onset diabetes mellitus in young [RCV002463697]|Monogenic diabetes [RCV003325961]|not specified [RCV000518696] |
Chr7:44145279 [GRCh38] Chr7:44184878 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.762T>A (p.Asn254Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463716]|not provided [RCV000521168] |
Chr7:44147751 [GRCh38] Chr7:44187350 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000763583]|not provided [RCV000255753] |
Chr7:44147747 [GRCh38] Chr7:44187346 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.645C>T (p.Tyr215=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000394978]|Maturity onset diabetes mellitus in young [RCV002365255]|Maturity-onset diabetes of the young type 2 [RCV000280005]|Permanent neonatal diabetes mellitus [RCV000342725]|Transient Neonatal Diabetes, Recessive [RCV000337358]|not provided [RCV000419746]|not specified [RCV000246889] |
Chr7:44149794 [GRCh38] Chr7:44189393 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*11C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000370358]|Maturity onset diabetes mellitus in young [RCV002463666]|Maturity-onset diabetes of the young type 2 [RCV000326074]|Permanent neonatal diabetes mellitus [RCV000383024]|Transient Neonatal Diabetes, Recessive [RCV000268765]|not specified [RCV000249274] |
Chr7:44145125 [GRCh38] Chr7:44184724 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.533G>A (p.Gly178Glu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001844105]|not provided [RCV000256137] |
Chr7:44150015 [GRCh38] Chr7:44189614 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463695]|Monogenic diabetes [RCV003318501]|not provided [RCV002525034]|not specified [RCV000517422] |
Chr7:44145606 [GRCh38] Chr7:44185205 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.393C>T (p.Ser131=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000363704]|Maturity onset diabetes mellitus in young [RCV002464190]|Maturity-onset diabetes of the young type 2 [RCV000306704]|Permanent neonatal diabetes mellitus [RCV000328974]|Transient Neonatal Diabetes, Recessive [RCV000271510] |
Chr7:44151046 [GRCh38] Chr7:44190645 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.213C>T (p.Val71=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160746]|Maturity onset diabetes mellitus in young [RCV002431478]|Maturity-onset diabetes of the young type 2 [RCV001160744]|Permanent neonatal diabetes mellitus [RCV001160747]|Transient Neonatal Diabetes, Recessive [RCV001160745]|not provided [RCV000898825]|not specified [RCV000517450] |
Chr7:44152421 [GRCh38] Chr7:44192020 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.129C>T (p.Arg43=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465603]|not specified [RCV000245045] |
Chr7:44153380 [GRCh38] Chr7:44192979 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*92C>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000367676]|Maturity onset diabetes mellitus in young [RCV002319491]|Maturity-onset diabetes of the young type 2 [RCV000275570]|Permanent neonatal diabetes mellitus [RCV000301261]|Transient Neonatal Diabetes, Recessive [RCV000332946]|not provided [RCV001662336] |
Chr7:44145044 [GRCh38] Chr7:44184643 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*735C>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000363301]|Maturity onset diabetes mellitus in young [RCV002463444]|Maturity-onset diabetes of the young type 2 [RCV000399621]|Permanent neonatal diabetes mellitus [RCV000313319]|Transient Neonatal Diabetes, Recessive [RCV000268687] |
Chr7:44144401 [GRCh38] Chr7:44184000 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*297T>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000341889]|Maturity onset diabetes mellitus in young [RCV002463675]|Maturity-onset diabetes of the young type 2 [RCV000347800]|Permanent neonatal diabetes mellitus [RCV000397044]|Transient Neonatal Diabetes, Recessive [RCV000303301] |
Chr7:44144839 [GRCh38] Chr7:44184438 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*332G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000382811]|Maturity-onset diabetes of the young type 2 [RCV000296546]|Permanent neonatal diabetes mellitus [RCV000344515]|Transient Neonatal Diabetes, Recessive [RCV000290517] |
Chr7:44144804 [GRCh38] Chr7:44184403 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.*847G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000300632]|Maturity onset diabetes mellitus in young [RCV002319483]|Maturity-onset diabetes of the young type 2 [RCV000392969]|Permanent neonatal diabetes mellitus [RCV000355358]|Transient Neonatal Diabetes, Recessive [RCV000274710] |
Chr7:44144289 [GRCh38] Chr7:44183888 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*797C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000291640]|Maturity onset diabetes mellitus in young [RCV002328876]|Maturity-onset diabetes of the young type 2 [RCV000327896]|Permanent neonatal diabetes mellitus [RCV000377801]|Transient Neonatal Diabetes, Recessive [RCV000381697]|not provided [RCV001643089] |
Chr7:44144339 [GRCh38] Chr7:44183938 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.198A>G (p.Pro66=) |
single nucleotide variant |
Hyperinsulinism, Dominant [RCV000319026]|Maturity onset diabetes mellitus in young [RCV000274473]|Permanent neonatal diabetes mellitus [RCV000376035]|Transient Neonatal Diabetes, Recessive [RCV000261439] |
Chr7:44153311 [GRCh38] Chr7:44192910 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.363+10G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000278110]|Maturity onset diabetes mellitus in young [RCV002464014]|Maturity-onset diabetes of the young type 2 [RCV000281644]|Permanent neonatal diabetes mellitus [RCV000373736]|Transient Neonatal Diabetes, Recessive [RCV000316891]|not provided [RCV000903602]|not specified [RCV000517228] |
Chr7:44152261 [GRCh38] Chr7:44191860 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.*356G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000373979]|Maturity onset diabetes mellitus in young [RCV002463674]|Maturity-onset diabetes of the young type 2 [RCV000386654]|Permanent neonatal diabetes mellitus [RCV000262887]|Transient Neonatal Diabetes, Recessive [RCV000329863] |
Chr7:44144780 [GRCh38] Chr7:44184379 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.*764C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000343547]|Maturity onset diabetes mellitus in young [RCV002319485]|Maturity-onset diabetes of the young type 2 [RCV000280315]|Permanent neonatal diabetes mellitus [RCV000394943]|Transient Neonatal Diabetes, Recessive [RCV000283845] |
Chr7:44144372 [GRCh38] Chr7:44183971 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.*678G>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000338438]|Maturity onset diabetes mellitus in young [RCV002319488]|Maturity-onset diabetes of the young type 2 [RCV000281095]|Permanent neonatal diabetes mellitus [RCV000385917]|Transient Neonatal Diabetes, Recessive [RCV000293959] |
Chr7:44144458 [GRCh38] Chr7:44184057 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.*510C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000401879]|Maturity onset diabetes mellitus in young [RCV002463673]|Maturity-onset diabetes of the young type 2 [RCV000310072]|Permanent neonatal diabetes mellitus [RCV000265579]|Transient Neonatal Diabetes, Recessive [RCV000357879] |
Chr7:44144626 [GRCh38] Chr7:44184225 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.363+10G>C |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000323044]|Maturity-onset diabetes of the young type 2 [RCV000357810]|Permanent neonatal diabetes mellitus [RCV000265645]|Transient Neonatal Diabetes, Recessive [RCV000379948] |
Chr7:44152261 [GRCh38] Chr7:44191860 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.*759del |
deletion |
Hyperinsulinism, Dominant [RCV000368903]|Maturity onset diabetes mellitus in young [RCV000335205]|Permanent neonatal diabetes mellitus [RCV000300132]|Transient Neonatal Diabetes, Recessive [RCV000402400]|not provided [RCV001613201] |
Chr7:44144377 [GRCh38] Chr7:44183976 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1163dup (p.Val389fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002463671]|not provided [RCV000297077] |
Chr7:44145586..44145587 [GRCh38] Chr7:44185185..44185186 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002347992]|Maturity-onset diabetes of the young type 2 [RCV002285302]|Monogenic diabetes [RCV002222471]|not provided [RCV000711776] |
Chr7:44149976 [GRCh38] Chr7:44189575 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.148dup (p.His50fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002465607]|not provided [RCV000320367] |
Chr7:44153360..44153361 [GRCh38] Chr7:44192959..44192960 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.*270C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000262713]|Maturity onset diabetes mellitus in young [RCV002463676]|Maturity-onset diabetes of the young type 2 [RCV000297867]|Permanent neonatal diabetes mellitus [RCV000399430]|Transient Neonatal Diabetes, Recessive [RCV000355166] |
Chr7:44144866 [GRCh38] Chr7:44184465 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.*723A>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000265397]|Maturity onset diabetes mellitus in young [RCV002319486]|Maturity-onset diabetes of the young type 2 [RCV000364682]|Permanent neonatal diabetes mellitus [RCV000320470]|Transient Neonatal Diabetes, Recessive [RCV000328632] |
Chr7:44144413 [GRCh38] Chr7:44184012 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.*844A>C |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000276649]|Maturity onset diabetes mellitus in young [RCV002319484]|Maturity-onset diabetes of the young type 2 [RCV000330528]|Permanent neonatal diabetes mellitus [RCV000327045]|Transient Neonatal Diabetes, Recessive [RCV000371132] |
Chr7:44144292 [GRCh38] Chr7:44183891 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.*721C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000379822]|Maturity onset diabetes mellitus in young [RCV002319487]|Maturity-onset diabetes of the young type 2 [RCV000317160]|Permanent neonatal diabetes mellitus [RCV000371812]|Transient Neonatal Diabetes, Recessive [RCV000266626] |
Chr7:44144415 [GRCh38] Chr7:44184014 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.434C>T (p.Pro145Leu) |
single nucleotide variant |
not provided [RCV001546887] |
Chr7:44151005 [GRCh38] Chr7:44190604 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.238G>A (p.Gly80Ser) |
single nucleotide variant |
not provided [RCV000519805] |
Chr7:44152396 [GRCh38] Chr7:44191995 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.995C>G (p.Thr332Arg) |
single nucleotide variant |
not provided [RCV000520175] |
Chr7:44146487 [GRCh38] Chr7:44186086 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.484-2A>G |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285558] |
Chr7:44150066 [GRCh38] Chr7:44189665 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463800]|not provided [RCV001880174]|not specified [RCV001269172] |
Chr7:44145717 [GRCh38] Chr7:44185316 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002350083]|Maturity-onset diabetes of the young type 2 [RCV000754816]|Monogenic diabetes [RCV003318499]|Type 2 diabetes mellitus [RCV002496884]|not provided [RCV000490143] |
Chr7:44149977 [GRCh38] Chr7:44189576 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.330C>G (p.Ile110Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464018]|not specified [RCV000516269] |
Chr7:44152304 [GRCh38] Chr7:44191903 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) |
single nucleotide variant |
Monogenic diabetes [RCV003325960]|not provided [RCV000516323] |
Chr7:44145637 [GRCh38] Chr7:44185236 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.820G>C (p.Asp274His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463708]|not specified [RCV000516582] |
Chr7:44147693 [GRCh38] Chr7:44187292 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.830T>G (p.Val277Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463709]|not specified [RCV000517377] |
Chr7:44147683 [GRCh38] Chr7:44187282 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.*548G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000306782]|Maturity onset diabetes mellitus in young [RCV002319489]|Maturity-onset diabetes of the young type 2 [RCV000351096]|Permanent neonatal diabetes mellitus [RCV000401535]|Transient Neonatal Diabetes, Recessive [RCV000345260] |
Chr7:44144588 [GRCh38] Chr7:44184187 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.802G>A (p.Glu268Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463707]|Monogenic diabetes [RCV003403215]|not provided [RCV001851438] |
Chr7:44147711 [GRCh38] Chr7:44187310 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.730G>A (p.Val244Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002384012]|not provided [RCV000522866] |
Chr7:44147783 [GRCh38] Chr7:44187382 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.483+2T>C |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464026]|Maturity-onset diabetes of the young type 2 [RCV002285369]|not provided [RCV000579201] |
Chr7:44150954 [GRCh38] Chr7:44190553 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.660C>T (p.Cys220=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002331016]|not provided [RCV000883078]|not specified [RCV000591848] |
Chr7:44149779 [GRCh38] Chr7:44189378 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.1155del (p.Leu386fs) |
deletion |
Hyperinsulinism due to glucokinase deficiency [RCV003147513]|Maturity onset diabetes mellitus in young [RCV002287429]|Maturity-onset diabetes of the young type 2 [RCV003147514]|Permanent neonatal diabetes mellitus 1 [RCV003147515]|Type 2 diabetes mellitus [RCV003147512]|not provided [RCV000598690] |
Chr7:44145595 [GRCh38] Chr7:44185194 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.623C>T (p.Ala208Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002367713]|not provided [RCV000517275] |
Chr7:44149816 [GRCh38] Chr7:44189415 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 7p13(chr7:43884184-44297732)x3 |
copy number gain |
not provided [RCV000584852] |
Chr7:43884184..44297732 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463737]|not provided [RCV000734686] |
Chr7:44147743 [GRCh38] Chr7:44187342 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000754805]|Monogenic diabetes [RCV003325973]|not provided [RCV001662802] |
Chr7:44145637 [GRCh38] Chr7:44185236 [GRCh37] Chr7:7p13 |
pathogenic |
TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 |
copy number loss |
See cases [RCV000446941] |
Chr7:40350383..47034422 [GRCh37] Chr7:7p14.1-12.3 |
pathogenic |
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 |
copy number loss |
See cases [RCV000446955] |
Chr7:32911003..44576005 [GRCh37] Chr7:7p14.3-13 |
pathogenic |
NM_000162.5(GCK):c.680-1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002319498]|Maturity-onset diabetes of the young type 2 [RCV000754801]|Monogenic diabetes [RCV000445383]|not provided [RCV001289442] |
Chr7:44147834 [GRCh38] Chr7:44187433 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) |
single nucleotide variant |
Monogenic diabetes [RCV000445412] |
Chr7:44146466 [GRCh38] Chr7:44186065 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) |
single nucleotide variant |
Monogenic diabetes [RCV000445420]|not provided [RCV001584122] |
Chr7:44145173 [GRCh38] Chr7:44184772 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.128G>A (p.Arg43His) |
single nucleotide variant |
GCK-related condition [RCV003418141]|Maturity onset diabetes mellitus in young [RCV002379402]|Maturity-onset diabetes of the young type 2 [RCV002285330]|Monogenic diabetes [RCV000445457]|not provided [RCV000711763] |
Chr7:44153381 [GRCh38] Chr7:44192980 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) |
indel |
Monogenic diabetes [RCV000445474] |
Chr7:44146563..44146564 [GRCh38] Chr7:44186162..44186163 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002393068]|Maturity-onset diabetes of the young type 2 [RCV000754803]|Monogenic diabetes [RCV000445484]|not provided [RCV000517148] |
Chr7:44147765 [GRCh38] Chr7:44187364 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1344del (p.Ala449fs) |
deletion |
Monogenic diabetes [RCV000445487] |
Chr7:44145190 [GRCh38] Chr7:44184789 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.122T>C (p.Met41Thr) |
single nucleotide variant |
Monogenic diabetes [RCV000445500]|not provided [RCV000992041] |
Chr7:44153387 [GRCh38] Chr7:44192986 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1253+2T>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000754802]|Monogenic diabetes [RCV000445532] |
Chr7:44145495 [GRCh38] Chr7:44185094 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.74T>A (p.Leu25Gln) |
single nucleotide variant |
Monogenic diabetes [RCV000445551] |
Chr7:44153435 [GRCh38] Chr7:44193034 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1019+18G>A |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002488878]|not provided [RCV000711755]|not specified [RCV000418514] |
Chr7:44146445 [GRCh38] Chr7:44186044 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.703A>G (p.Met235Val) |
single nucleotide variant |
not provided [RCV000419860] |
Chr7:44147810 [GRCh38] Chr7:44187409 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.9C>T (p.Asp3=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002379362]|Type 2 diabetes mellitus [RCV002506065]|not provided [RCV000992072]|not specified [RCV001821204] |
Chr7:44188945 [GRCh38] Chr7:44228544 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.464G>C (p.Arg155Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464021]|not specified [RCV000518745] |
Chr7:44150975 [GRCh38] Chr7:44190574 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.364-1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002450985]|not provided [RCV000429688] |
Chr7:44151076 [GRCh38] Chr7:44190675 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.171G>T (p.Met57Ile) |
single nucleotide variant |
not provided [RCV000431394] |
Chr7:44153338 [GRCh38] Chr7:44192937 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1099G>A (p.Val367Met) |
single nucleotide variant |
Monogenic diabetes [RCV003325955]|not provided [RCV000440624] |
Chr7:44145651 [GRCh38] Chr7:44185250 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1339del (p.Arg447fs) |
deletion |
Monogenic diabetes [RCV003325957]|not provided [RCV000481054] |
Chr7:44145195 [GRCh38] Chr7:44184794 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.184G>A (p.Val62Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000754817]|Monogenic diabetes [RCV003325956]|not provided [RCV000481874] |
Chr7:44153325 [GRCh38] Chr7:44192924 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.355G>A (p.Ala119Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464016]|not provided [RCV000479911] |
Chr7:44152279 [GRCh38] Chr7:44191878 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.137G>T (p.Arg46Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285338]|not provided [RCV000479996] |
Chr7:44153372 [GRCh38] Chr7:44192971 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.757G>A (p.Val253Ile) |
single nucleotide variant |
not provided [RCV000482178] |
Chr7:44147756 [GRCh38] Chr7:44187355 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 |
copy number gain |
See cases [RCV000512091] |
Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
NM_000162.5(GCK):c.435_436dup (p.Leu146fs) |
duplication |
not provided [RCV000484370] |
Chr7:44151002..44151003 [GRCh38] Chr7:44190601..44190602 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) |
single nucleotide variant |
not provided [RCV000485201] |
Chr7:44146611 [GRCh38] Chr7:44186210 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.766G>C (p.Glu256Gln) |
single nucleotide variant |
not provided [RCV000485821] |
Chr7:44147747 [GRCh38] Chr7:44187346 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.171G>A (p.Met57Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002402377]|not provided [RCV000479407] |
Chr7:44153338 [GRCh38] Chr7:44192937 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.431del (p.Leu144fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002464015]|not provided [RCV000479670] |
Chr7:44151008 [GRCh38] Chr7:44190607 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002431386]|not provided [RCV000479890] |
Chr7:44145663 [GRCh38] Chr7:44185262 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000754804]|Monogenic diabetes [RCV001731711]|not provided [RCV000480480] |
Chr7:44153396 [GRCh38] Chr7:44192995 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.-135G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463690]|not specified [RCV000500839] |
Chr7:44189088 [GRCh38] Chr7:44228687 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.749G>A (p.Arg250His) |
single nucleotide variant |
not specified [RCV000500949] |
Chr7:44147764 [GRCh38] Chr7:44187363 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000162.5(GCK):c.-102G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159483]|Maturity onset diabetes mellitus in young [RCV002463686]|Maturity-onset diabetes of the young type 2 [RCV001159481]|Permanent neonatal diabetes mellitus [RCV001159482]|Transient Neonatal Diabetes, Recessive [RCV001160841]|not specified [RCV000503948] |
Chr7:44189055 [GRCh38] Chr7:44228654 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV000788107]|Maturity-onset diabetes of the young type 2 [RCV000503648]|Monogenic diabetes [RCV003403150]|not provided [RCV000497478] |
Chr7:44153403 [GRCh38] Chr7:44193002 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV000499682] |
Chr7:44145585 [GRCh38] Chr7:44185184 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.3(GCK):c.-487C>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463689]|not specified [RCV000504402] |
Chr7:44189440 [GRCh38] Chr7:44229039 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.824G>A (p.Arg275His) |
single nucleotide variant |
not provided [RCV000497703]|not specified [RCV003479141] |
Chr7:44147689 [GRCh38] Chr7:44187288 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.580-13T>A |
single nucleotide variant |
not provided [RCV000497725] |
Chr7:44149872 [GRCh38] Chr7:44189471 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-453C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160965]|Maturity onset diabetes mellitus in young [RCV002463688]|Maturity-onset diabetes of the young type 2 [RCV001160966]|Permanent neonatal diabetes mellitus [RCV001160964]|Transient Neonatal Diabetes, Recessive [RCV001160963]|not specified [RCV000502321] |
Chr7:44189406 [GRCh38] Chr7:44229005 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.45+3A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463685]|not provided [RCV000497841] |
Chr7:44188906 [GRCh38] Chr7:44228505 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.632T>A (p.Ile211Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464217]|not specified [RCV000500071] |
Chr7:44149807 [GRCh38] Chr7:44189406 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000499613]|not provided [RCV002524187] |
Chr7:44146574 [GRCh38] Chr7:44186173 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000499850]|Monogenic diabetes [RCV003313087]|not provided [RCV003482262] |
Chr7:44145212 [GRCh38] Chr7:44184811 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002376921]|Maturity-onset diabetes of the young type 2 [RCV000500565] |
Chr7:44146541 [GRCh38] Chr7:44186140 [GRCh37] Chr7:7p13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.678_679+2del |
deletion |
Maturity onset diabetes mellitus in young [RCV002463692]|Maturity-onset diabetes of the young type 2 [RCV000501175] |
Chr7:44149758..44149761 [GRCh38] Chr7:44189357..44189360 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.775G>A (p.Ala259Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000501758]|Monogenic diabetes [RCV002282182]|not provided [RCV001562849] |
Chr7:44147738 [GRCh38] Chr7:44187337 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002367690]|Maturity-onset diabetes of the young type 2 [RCV000502130]|Monogenic diabetes [RCV003403165]|Permanent neonatal diabetes mellitus [RCV000763585]|not provided [RCV000517681] |
Chr7:44149772 [GRCh38] Chr7:44189371 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.295del (p.Trp99fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002438219]|Maturity-onset diabetes of the young type 2 [RCV000502155] |
Chr7:44152339 [GRCh38] Chr7:44191938 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.98T>A (p.Val33Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002383967]|Maturity-onset diabetes of the young type 2 [RCV000502611] |
Chr7:44153411 [GRCh38] Chr7:44193010 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463691]|Maturity-onset diabetes of the young type 2 [RCV000502737] |
Chr7:44145577 [GRCh38] Chr7:44185176 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000504015]|Monogenic diabetes [RCV003330317] |
Chr7:44147689 [GRCh38] Chr7:44187288 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464017]|Maturity-onset diabetes of the young type 2 [RCV000504203]|not provided [RCV002473026] |
Chr7:44151075 [GRCh38] Chr7:44190674 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) |
single nucleotide variant |
GCK-related condition [RCV003403149]|Maturity onset diabetes mellitus in young [RCV002350106]|Maturity-onset diabetes of the young type 2 [RCV002285343]|Monogenic diabetes [RCV003228938]|not provided [RCV000498428] |
Chr7:44149982 [GRCh38] Chr7:44189581 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele|uncertain significance |
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) |
microsatellite |
Hyperinsulinism due to glucokinase deficiency [RCV000502957]|Maturity onset diabetes mellitus in young [RCV002287417] |
Chr7:44145170..44145171 [GRCh38] Chr7:44184769..44184770 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.-452G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159587]|Maturity onset diabetes mellitus in young [RCV002463687]|Maturity-onset diabetes of the young type 2 [RCV001159586]|Permanent neonatal diabetes mellitus [RCV001160962]|Transient Neonatal Diabetes, Recessive [RCV001159585]|not specified [RCV000500897] |
Chr7:44189405 [GRCh38] Chr7:44229004 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.134T>C (p.Leu45Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465692]|not provided [RCV000493595] |
Chr7:44153375 [GRCh38] Chr7:44192974 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463683]|not provided [RCV000493930]|not specified [RCV000503344] |
Chr7:44145612..44145620 [GRCh38] Chr7:44185211..44185219 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.25G>T (p.Glu9Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463682]|not provided [RCV000494362] |
Chr7:44188929 [GRCh38] Chr7:44228528 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001290675]|Type 2 diabetes mellitus [RCV002489206]|not provided [RCV000494422] |
Chr7:44145194 [GRCh38] Chr7:44184793 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000162.5(GCK):c.208+1G>A |
single nucleotide variant |
not provided [RCV000578672] |
Chr7:44153300 [GRCh38] Chr7:44192899 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.477C>G (p.Ile159Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464022]|not provided [RCV001821451]|not specified [RCV000518112] |
Chr7:44150962 [GRCh38] Chr7:44190561 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_033507.2(GCK):c.1030G>T (p.Gly344Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young, type 2 [RCV000495970] |
Chr7:44145723 [GRCh38] Chr7:44185322 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.1391del (p.Gly464fs) |
deletion |
Monogenic diabetes [RCV003313352] |
Chr7:44145143 [GRCh38] Chr7:44184742 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1318G>T (p.Glu440Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003313362] |
Chr7:44145216 [GRCh38] Chr7:44184815 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1368del (p.Cys457fs) |
deletion |
Monogenic diabetes [RCV003313373] |
Chr7:44145166 [GRCh38] Chr7:44184765 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.534G>A (p.Gly178=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003301116] |
Chr7:44150014 [GRCh38] Chr7:44189613 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1348del (p.Ala450fs) |
deletion |
Monogenic diabetes [RCV003326087] |
Chr7:44145186 [GRCh38] Chr7:44184785 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs) |
microsatellite |
Monogenic diabetes [RCV003326084] |
Chr7:44145187..44145188 [GRCh38] Chr7:44184786..44184787 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs) |
indel |
Monogenic diabetes [RCV003313374] |
Chr7:44145009..44145176 [GRCh38] Chr7:44184608..44184775 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu) |
indel |
Maturity onset diabetes mellitus in young [RCV002464025]|not provided [RCV000523399] |
Chr7:44151011..44151012 [GRCh38] Chr7:44190610..44190611 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.527C>A (p.Ala176Glu) |
single nucleotide variant |
GCK-related condition [RCV003403237]|not provided [RCV000524090] |
Chr7:44150021 [GRCh38] Chr7:44189620 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1343del (p.Gly448fs) |
deletion |
Monogenic diabetes [RCV003313358] |
Chr7:44145191 [GRCh38] Chr7:44184790 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.364-18A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464027]|Type 2 diabetes mellitus [RCV002506472]|not provided [RCV000711771]|not specified [RCV000616972] |
Chr7:44151093 [GRCh38] Chr7:44190692 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1256del (p.Phe419fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV003313369] |
Chr7:44145278 [GRCh38] Chr7:44184877 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.371A>T (p.Asp124Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464028]|Maturity-onset diabetes of the young type 2 [RCV000625646]|not provided [RCV001860464] |
Chr7:44151068 [GRCh38] Chr7:44190667 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele|uncertain significance |
NM_000162.5(GCK):c.255G>T (p.Arg85Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465739]|Maturity-onset diabetes of the young type 2 [RCV000625634] |
Chr7:44152379 [GRCh38] Chr7:44191978 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1317C>T (p.Ile439=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463721]|not specified [RCV000604671] |
Chr7:44145217 [GRCh38] Chr7:44184816 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623742]|Permanent neonatal diabetes mellitus [RCV001824153]|not provided [RCV001041035] |
Chr7:44145210 [GRCh38] Chr7:44184809 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002343405]|not provided [RCV000657902] |
Chr7:44150008 [GRCh38] Chr7:44189607 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.675C>G (p.Ile225Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003343982]|not provided [RCV000657901] |
Chr7:44149764 [GRCh38] Chr7:44189363 [GRCh37] Chr7:7p13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.124G>C (p.Asp42His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464294]|not provided [RCV000710053] |
Chr7:44153385 [GRCh38] Chr7:44192984 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys) |
single nucleotide variant |
Monogenic diabetes [RCV003325971]|not provided [RCV000711757] |
Chr7:44145621 [GRCh38] Chr7:44185220 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.127C>A (p.Arg43Ser) |
single nucleotide variant |
not provided [RCV000711760] |
Chr7:44153382 [GRCh38] Chr7:44192981 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285407]|Monogenic diabetes [RCV003325972]|not provided [RCV000711761] |
Chr7:44153382 [GRCh38] Chr7:44192981 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1280T>G (p.Val427Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463456]|not provided [RCV000711762] |
Chr7:44145254 [GRCh38] Chr7:44184853 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) |
single nucleotide variant |
Permanent neonatal diabetes mellitus [RCV000764717]|not provided [RCV000711765] |
Chr7:44145224 [GRCh38] Chr7:44184823 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463729]|Monogenic diabetes [RCV001844229]|not provided [RCV000711766] |
Chr7:44145207 [GRCh38] Chr7:44184806 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 1 [RCV003446380]|Maturity-onset diabetes of the young type 2 [RCV002469275]|not provided [RCV000711767] |
Chr7:44145170 [GRCh38] Chr7:44184769 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.185T>C (p.Val62Ala) |
single nucleotide variant |
Monogenic diabetes [RCV003480800]|not provided [RCV000711769] |
Chr7:44153324 [GRCh38] Chr7:44192923 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.322T>C (p.Tyr108His) |
single nucleotide variant |
Monogenic diabetes [RCV003480801]|not provided [RCV000711770] |
Chr7:44152312 [GRCh38] Chr7:44191911 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.364C>G (p.Leu122Val) |
single nucleotide variant |
not provided [RCV000711772] |
Chr7:44151075 [GRCh38] Chr7:44190674 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.680-2A>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002360845]|Monogenic diabetes [RCV002298750]|not provided [RCV000711782] |
Chr7:44147835 [GRCh38] Chr7:44187434 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463731]|not provided [RCV000711784] |
Chr7:44147812 [GRCh38] Chr7:44187411 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463732]|not provided [RCV000711785] |
Chr7:44147694 [GRCh38] Chr7:44187293 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.823C>T (p.Arg275Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227212]|Monogenic diabetes [RCV003330319]|not provided [RCV000711786] |
Chr7:44147690 [GRCh38] Chr7:44187289 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) |
single nucleotide variant |
Monogenic diabetes [RCV001805831]|not provided [RCV000711789] |
Chr7:44146530 [GRCh38] Chr7:44186129 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.128G>C (p.Arg43Pro) |
single nucleotide variant |
not provided [RCV000711764] |
Chr7:44153381 [GRCh38] Chr7:44192980 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463728]|not provided [RCV000711756] |
Chr7:44145696 [GRCh38] Chr7:44185295 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.291del (p.Gln98fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002465757]|not provided [RCV000721110] |
Chr7:44152343 [GRCh38] Chr7:44191942 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.466C>T (p.His156Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464031]|Monogenic diabetes [RCV003480802]|not provided [RCV000711775] |
Chr7:44150973 [GRCh38] Chr7:44190572 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) |
single nucleotide variant |
GCK-related condition [RCV003420270]|Maturity-onset diabetes of the young type 2 [RCV002285406]|Monogenic diabetes [RCV003318504]|not provided [RCV000711758] |
Chr7:44145576 [GRCh38] Chr7:44185175 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.377T>C (p.Ile126Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464030]|not provided [RCV000711773] |
Chr7:44151062 [GRCh38] Chr7:44190661 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.579+8G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463730]|not provided [RCV000711777] |
Chr7:44149961 [GRCh38] Chr7:44189560 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.608T>C (p.Val203Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002352232]|Monogenic diabetes [RCV003155293]|Type 2 diabetes mellitus [RCV002499286]|not provided [RCV000711780] |
Chr7:44149831 [GRCh38] Chr7:44189430 [GRCh37] Chr7:7p13 |
pathogenic|likely risk allele |
NM_000162.5(GCK):c.863+1G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001420913]|not provided [RCV000711787] |
Chr7:44147649 [GRCh38] Chr7:44187248 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.98T>C (p.Val33Ala) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285408]|not provided [RCV000711790] |
Chr7:44153411 [GRCh38] Chr7:44193010 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.138G>A (p.Arg46=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002388589]|not specified [RCV001553677] |
Chr7:44153371 [GRCh38] Chr7:44192970 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463738]|Maturity-onset diabetes of the young type 2 [RCV000754808] |
Chr7:44147795 [GRCh38] Chr7:44187394 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv |
inversion |
Childhood apraxia of speech [RCV000234948] |
Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NC_000007.14:g.44189721G>A |
single nucleotide variant |
not provided [RCV001692894] |
Chr7:44189721 [GRCh38] Chr7:44229320 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.909G>T (p.Arg303=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463751]|not provided [RCV000917731] |
Chr7:44146573 [GRCh38] Chr7:44186172 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.45+1G>T |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000760157]|not provided [RCV000992051] |
Chr7:44188908 [GRCh38] Chr7:44228507 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1309_1310del (p.Thr437fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV003313363] |
Chr7:44145224..44145225 [GRCh38] Chr7:44184823..44184824 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1261G>T (p.Glu421Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003313366] |
Chr7:44145273 [GRCh38] Chr7:44184872 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.679+169C>T |
single nucleotide variant |
not provided [RCV001569209] |
Chr7:44149591 [GRCh38] Chr7:44189190 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1307_1319del (p.Ile436fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV003313354] |
Chr7:44145215..44145227 [GRCh38] Chr7:44184814..44184826 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV003318508]|not provided [RCV001663646] |
Chr7:44145605 [GRCh38] Chr7:44185204 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.1019+304G>C |
single nucleotide variant |
not provided [RCV001667792] |
Chr7:44146159 [GRCh38] Chr7:44185758 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-5702G>A |
single nucleotide variant |
not provided [RCV001581877] |
Chr7:44159165 [GRCh38] Chr7:44198764 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.561C>T (p.Asp187=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463750]|not provided [RCV000900557] |
Chr7:44149987 [GRCh38] Chr7:44189586 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.609G>A (p.Val203=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463748]|not provided [RCV000884437] |
Chr7:44149830 [GRCh38] Chr7:44189429 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.46-4621C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463753]|not provided [RCV000943404] |
Chr7:44158084 [GRCh38] Chr7:44197683 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1068G>T (p.Gly356=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463752]|not provided [RCV000924600] |
Chr7:44145682 [GRCh38] Chr7:44185281 [GRCh37] Chr7:7p13 |
likely benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000162.5(GCK):c.148C>T (p.His50Tyr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002332563]|Maturity-onset diabetes of the young type 2 [RCV000778070]|not provided [RCV001816832] |
Chr7:44153361 [GRCh38] Chr7:44192960 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.348C>T (p.Thr116=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464033]|not provided [RCV000916659] |
Chr7:44152286 [GRCh38] Chr7:44191885 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.363+9C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159381]|Maturity onset diabetes mellitus in young [RCV002464346]|Maturity-onset diabetes of the young type 2 [RCV001164297]|Permanent neonatal diabetes mellitus [RCV001164298]|Transient Neonatal Diabetes, Recessive [RCV001164296]|not provided [RCV000925313]|not specified [RCV001818885] |
Chr7:44152262 [GRCh38] Chr7:44191861 [GRCh37] Chr7:7p13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.849C>T (p.Asn283=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463749]|not provided [RCV000895058] |
Chr7:44147664 [GRCh38] Chr7:44187263 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1378del (p.Ala460fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV003313365] |
Chr7:44145156 [GRCh38] Chr7:44184755 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.679+38T>C |
single nucleotide variant |
not provided [RCV000832813] |
Chr7:44149722 [GRCh38] Chr7:44189321 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-4952G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463744]|not provided [RCV000833145] |
Chr7:44158415 [GRCh38] Chr7:44198014 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.726G>A (p.Glu242=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463755]|not provided [RCV000976692] |
Chr7:44147787 [GRCh38] Chr7:44187386 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.483+87A>C |
single nucleotide variant |
not provided [RCV000836326] |
Chr7:44150869 [GRCh38] Chr7:44190468 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463758]|Monogenic diabetes [RCV003318506]|not provided [RCV000992034]|not specified [RCV001290631] |
Chr7:44145686 [GRCh38] Chr7:44185285 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1247A>C (p.His416Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463762]|not provided [RCV000992042] |
Chr7:44145503 [GRCh38] Chr7:44185102 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1253+3G>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463763]|not provided [RCV000992043] |
Chr7:44145494 [GRCh38] Chr7:44185093 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001248939]|not provided [RCV000992055] |
Chr7:44149986 [GRCh38] Chr7:44189585 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.629T>C (p.Met210Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003117664]|not provided [RCV000992058] |
Chr7:44149810 [GRCh38] Chr7:44189409 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.70C>T (p.Gln24Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002363516]|not provided [RCV000992060] |
Chr7:44153439 [GRCh38] Chr7:44193038 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.734A>G (p.Glu245Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463765]|not provided [RCV000992061] |
Chr7:44147779 [GRCh38] Chr7:44187378 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.809T>C (p.Leu270Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463766]|not provided [RCV000992064] |
Chr7:44147704 [GRCh38] Chr7:44187303 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.46-5883dup |
duplication |
Maturity onset diabetes mellitus in young [RCV002463746]|not provided [RCV000843826] |
Chr7:44159345..44159346 [GRCh38] Chr7:44198944..44198945 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1253+49G>A |
single nucleotide variant |
not provided [RCV000833675] |
Chr7:44145448 [GRCh38] Chr7:44185047 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-4438C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463743]|not provided [RCV000832331] |
Chr7:44157901 [GRCh38] Chr7:44197500 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1156C>G (p.Leu386Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463761]|not provided [RCV000992039] |
Chr7:44145594 [GRCh38] Chr7:44185193 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.626C>T (p.Thr209Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002354899]|Monogenic diabetes [RCV002265919]|not provided [RCV000992057] |
Chr7:44149813 [GRCh38] Chr7:44189412 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002382224]|Monogenic diabetes [RCV003446565]|not provided [RCV000992062] |
Chr7:44147776 [GRCh38] Chr7:44187375 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.854del (p.Gly285fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463768]|not provided [RCV000992067] |
Chr7:44147659 [GRCh38] Chr7:44187258 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.943C>T (p.Leu315Phe) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463769]|not provided [RCV000992071] |
Chr7:44146539 [GRCh38] Chr7:44186138 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.1019+275del |
deletion |
Maturity onset diabetes mellitus in young [RCV002463742]|not provided [RCV000828882] |
Chr7:44146188 [GRCh38] Chr7:44185787 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.208+17G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465791]|Type 2 diabetes mellitus [RCV002501162]|not provided [RCV000828155] |
Chr7:44153284 [GRCh38] Chr7:44192883 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002463756]|Maturity-onset diabetes of the young type 2 [RCV000987866] |
Chr7:44145715..44145716 [GRCh38] Chr7:44185314..44185315 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1019+257G>C |
single nucleotide variant |
not provided [RCV000828875] |
Chr7:44146206 [GRCh38] Chr7:44185805 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164190]|Maturity-onset diabetes of the young type 2 [RCV001164187]|Monogenic diabetes [RCV003325990]|Permanent neonatal diabetes mellitus [RCV001164189]|Transient Neonatal Diabetes, Recessive [RCV001164188]|Type 2 diabetes mellitus [RCV002468180]|not provided [RCV001315293] |
Chr7:44149790 [GRCh38] Chr7:44189389 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.209-236G>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464335]|not provided [RCV000836325] |
Chr7:44152661 [GRCh38] Chr7:44192260 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1020-327C>A |
single nucleotide variant |
not provided [RCV000828885] |
Chr7:44146057 [GRCh38] Chr7:44185656 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-4521C>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463747]|not provided [RCV000843827] |
Chr7:44157984 [GRCh38] Chr7:44197583 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.864-105G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463745]|not provided [RCV000837378] |
Chr7:44146723 [GRCh38] Chr7:44186322 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.46-5908dup |
duplication |
not provided [RCV000828863] |
Chr7:44159368..44159369 [GRCh38] Chr7:44198967..44198968 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-6080G>A |
single nucleotide variant |
not provided [RCV000835590] |
Chr7:44159543 [GRCh38] Chr7:44199142 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1360del (p.Ala454fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287453]|Monogenic diabetes [RCV003313161]|not provided [RCV000992048] |
Chr7:44145174 [GRCh38] Chr7:44184773 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.387C>A (p.Cys129Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464034]|not provided [RCV000992050] |
Chr7:44151052 [GRCh38] Chr7:44190651 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.772G>T (p.Gly258Cys) |
single nucleotide variant |
not provided [RCV000992063] |
Chr7:44147741 [GRCh38] Chr7:44187340 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.904G>C (p.Val302Leu) |
single nucleotide variant |
not provided [RCV000992069] |
Chr7:44146578 [GRCh38] Chr7:44186177 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-279C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164513]|Maturity onset diabetes mellitus in young [RCV002463784]|Maturity-onset diabetes of the young type 2 [RCV001164514]|Permanent neonatal diabetes mellitus [RCV001164512]|Transient Neonatal Diabetes, Recessive [RCV001164515] |
Chr7:44189232 [GRCh38] Chr7:44228831 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV000991306]|Monogenic diabetes [RCV003318505] |
Chr7:44149817 [GRCh38] Chr7:44189416 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro) |
single nucleotide variant |
not provided [RCV000992044] |
Chr7:44145269 [GRCh38] Chr7:44184868 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002290505]|not provided [RCV000992046] |
Chr7:44145194 [GRCh38] Chr7:44184793 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002346196]|not provided [RCV000992054] |
Chr7:44149994 [GRCh38] Chr7:44189593 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.571C>G (p.Arg191Gly) |
single nucleotide variant |
not provided [RCV000992056] |
Chr7:44149977 [GRCh38] Chr7:44189576 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.848del (p.Asn283fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463767]|not provided [RCV000992066] |
Chr7:44147665 [GRCh38] Chr7:44187264 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.680-14G>C |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162160]|Maturity onset diabetes mellitus in young [RCV002464399]|Maturity-onset diabetes of the young type 2 [RCV001160546]|Permanent neonatal diabetes mellitus [RCV001160548]|Transient Neonatal Diabetes, Recessive [RCV001160547]|not provided [RCV002558521] |
Chr7:44147847 [GRCh38] Chr7:44187446 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463759]|Monogenic diabetes [RCV003318507]|not provided [RCV000992037] |
Chr7:44145604 [GRCh38] Chr7:44185203 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) |
single nucleotide variant |
GCK-related condition [RCV003396574]|Maturity onset diabetes mellitus in young [RCV002463760]|not provided [RCV000992038] |
Chr7:44145599 [GRCh38] Chr7:44185198 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.121A>G (p.Met41Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464351]|not provided [RCV000992040] |
Chr7:44153388 [GRCh38] Chr7:44192987 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.301G>A (p.Val101Met) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001249063]|Type 2 diabetes mellitus [RCV002489469]|not provided [RCV000992049] |
Chr7:44152333 [GRCh38] Chr7:44191932 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-215A>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160846]|Maturity onset diabetes mellitus in young [RCV002319666]|Maturity-onset diabetes of the young type 2 [RCV001160848]|Permanent neonatal diabetes mellitus [RCV001160847]|Transient Neonatal Diabetes, Recessive [RCV001162463]|not specified [RCV001819863] |
Chr7:44189168 [GRCh38] Chr7:44228767 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.-267G>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162468]|Maturity onset diabetes mellitus in young [RCV002319668]|Maturity-onset diabetes of the young type 2 [RCV001162470]|Permanent neonatal diabetes mellitus [RCV001162469]|Transient Neonatal Diabetes, Recessive [RCV001164511]|not provided [RCV001560308] |
Chr7:44189220 [GRCh38] Chr7:44228819 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001248984]|Monogenic diabetes [RCV003481036] |
Chr7:44153306 [GRCh38] Chr7:44192905 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463790]|Maturity-onset diabetes of the young type 2 [RCV001248985] |
Chr7:44147740 [GRCh38] Chr7:44187339 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001248989]|not provided [RCV001751508] |
Chr7:44146463 [GRCh38] Chr7:44186062 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.709G>A (p.Glu237Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463791]|Maturity-onset diabetes of the young type 2 [RCV001249059] |
Chr7:44147804 [GRCh38] Chr7:44187403 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464037]|Maturity-onset diabetes of the young type 2 [RCV001249065]|Type 2 diabetes mellitus [RCV002485984]|not provided [RCV001879749] |
Chr7:44153402 [GRCh38] Chr7:44193001 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463792]|Permanent neonatal diabetes mellitus [RCV001249301]|not provided [RCV001751510] |
Chr7:44145665 [GRCh38] Chr7:44185264 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance|not provided |
NM_000162.5(GCK):c.1339dup (p.Arg447fs) |
duplication |
Monogenic diabetes [RCV003313359] |
Chr7:44145194..44145195 [GRCh38] Chr7:44184793..44184794 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1302C>A (p.Cys434Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003313364] |
Chr7:44145232 [GRCh38] Chr7:44184831 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003313368] |
Chr7:44145278 [GRCh38] Chr7:44184877 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1254-1G>T |
single nucleotide variant |
Monogenic diabetes [RCV003313371] |
Chr7:44145281 [GRCh38] Chr7:44184880 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1261del (p.Glu421fs) |
deletion |
Monogenic diabetes [RCV003313367] |
Chr7:44145273 [GRCh38] Chr7:44184872 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.755G>T (p.Cys252Phe) |
single nucleotide variant |
not provided [RCV000998793] |
Chr7:44147758 [GRCh38] Chr7:44187357 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463757]|Maturity-onset diabetes of the young type 2 [RCV000987867]|Type 2 diabetes mellitus [RCV002488077]|not provided [RCV002549691] |
Chr7:44147677 [GRCh38] Chr7:44187276 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.772G>A (p.Gly258Ser) |
single nucleotide variant |
Diabetes mellitus [RCV001175327]|not provided [RCV001556494] |
Chr7:44147741 [GRCh38] Chr7:44187340 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001249058] |
Chr7:44147797 [GRCh38] Chr7:44187396 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.207A>G (p.Ser69=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465855]|Maturity-onset diabetes of the young type 2 [RCV001249064]|not provided [RCV001289435]|not specified [RCV001819955] |
Chr7:44153302 [GRCh38] Chr7:44192901 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.-449G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159583]|Maturity-onset diabetes of the young type 2 [RCV001159581]|Permanent neonatal diabetes mellitus [RCV001159584]|Transient Neonatal Diabetes, Recessive [RCV001159582] |
Chr7:44189402 [GRCh38] Chr7:44229001 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.792C>A (p.Gly264=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160543]|Maturity-onset diabetes of the young type 2 [RCV001160544]|Permanent neonatal diabetes mellitus [RCV001160542]|Transient Neonatal Diabetes, Recessive [RCV001160545] |
Chr7:44147721 [GRCh38] Chr7:44187320 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-84C>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164415]|Maturity onset diabetes mellitus in young [RCV002319664]|Maturity-onset diabetes of the young type 2 [RCV001164416]|Permanent neonatal diabetes mellitus [RCV001164417]|Transient Neonatal Diabetes, Recessive [RCV001159476]|not provided [RCV001683742] |
Chr7:44189037 [GRCh38] Chr7:44228636 [GRCh37] Chr7:7p13 |
benign |
NC_000007.13:g.(?_44153173)_(44365020_?)dup |
duplication |
not provided [RCV003105675] |
Chr7:44153173..44365020 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1312_1314del (p.Phe438del) |
deletion |
Monogenic diabetes [RCV003313353] |
Chr7:44145220..44145222 [GRCh38] Chr7:44184819..44184821 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs) |
deletion |
Monogenic diabetes [RCV003313357] |
Chr7:44145134..44145155 [GRCh38] Chr7:44184733..44184754 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1335_1345del (p.Arg447fs) |
deletion |
Monogenic diabetes [RCV003313360] |
Chr7:44145189..44145199 [GRCh38] Chr7:44184788..44184798 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1319_1323dup (p.Glu442fs) |
duplication |
Monogenic diabetes [RCV003313361] |
Chr7:44145210..44145211 [GRCh38] Chr7:44184809..44184810 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1373_1384del (p.Lys458_Cys461del) |
deletion |
Monogenic diabetes [RCV003313372] |
Chr7:44145150..44145161 [GRCh38] Chr7:44184749..44184760 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs) |
indel |
Monogenic diabetes [RCV003313355] |
Chr7:44145261..44145269 [GRCh38] Chr7:44184860..44184868 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1346_1362del (p.Ala449fs) |
deletion |
Monogenic diabetes [RCV003313356] |
Chr7:44145172..44145188 [GRCh38] Chr7:44184771..44184787 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1255T>G (p.Phe419Val) |
single nucleotide variant |
Monogenic diabetes [RCV003313370] |
Chr7:44145279 [GRCh38] Chr7:44184878 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1313T>A (p.Phe438Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV003313375] |
Chr7:44145221 [GRCh38] Chr7:44184820 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NC_000007.13:g.(?_43810758)_(44747598_?)del |
deletion |
not provided [RCV003105673] |
Chr7:43810758..44747598 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.990C>T (p.Phe330=) |
single nucleotide variant |
not provided [RCV001663694] |
Chr7:44146492 [GRCh38] Chr7:44186091 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.46-62C>A |
single nucleotide variant |
not provided [RCV001551487] |
Chr7:44153525 [GRCh38] Chr7:44193124 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.617C>T (p.Thr206Met) |
single nucleotide variant |
Monogenic diabetes [RCV002271659]|not provided [RCV001553149] |
Chr7:44149822 [GRCh38] Chr7:44189421 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.46-4438C>A |
single nucleotide variant |
not provided [RCV001583394] |
Chr7:44157901 [GRCh38] Chr7:44197500 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.579+29G>T |
single nucleotide variant |
not provided [RCV001561573] |
Chr7:44149940 [GRCh38] Chr7:44189539 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1019+174G>T |
single nucleotide variant |
not provided [RCV001717578] |
Chr7:44146289 [GRCh38] Chr7:44185888 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.483+58A>T |
single nucleotide variant |
not provided [RCV001657381] |
Chr7:44150898 [GRCh38] Chr7:44190497 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.680G>A (p.Gly227Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002368582]|not provided [RCV001563276] |
Chr7:44147833 [GRCh38] Chr7:44187432 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001580191]|not provided [RCV003120636] |
Chr7:44151053 [GRCh38] Chr7:44190652 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.46-4459C>T |
single nucleotide variant |
not provided [RCV001568139] |
Chr7:44157922 [GRCh38] Chr7:44197521 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.679+85A>G |
single nucleotide variant |
not provided [RCV001654762] |
Chr7:44149675 [GRCh38] Chr7:44189274 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.679+1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002368586]|not provided [RCV001565927] |
Chr7:44149759 [GRCh38] Chr7:44189358 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1123T>C (p.Ser375Pro) |
single nucleotide variant |
not provided [RCV000992035] |
Chr7:44145627 [GRCh38] Chr7:44185226 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) |
single nucleotide variant |
not provided [RCV000992036] |
Chr7:44145614 [GRCh38] Chr7:44185213 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287452]|not provided [RCV000992047] |
Chr7:44145173..44145184 [GRCh38] Chr7:44184772..44184783 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.483+2_483+16del |
deletion |
Maturity onset diabetes mellitus in young [RCV003106086]|Maturity-onset diabetes of the young type 2 [RCV002286425]|not provided [RCV000992052] |
Chr7:44150940..44150954 [GRCh38] Chr7:44190539..44190553 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.638_640del (p.Cys213del) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463764]|not provided [RCV000992059] |
Chr7:44149799..44149801 [GRCh38] Chr7:44189398..44189400 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.864-1G>A |
single nucleotide variant |
not provided [RCV000992068] |
Chr7:44146619 [GRCh38] Chr7:44186218 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.834C>T (p.Asp278=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463754]|Type 2 diabetes mellitus [RCV002489298]|not provided [RCV000948767] |
Chr7:44147679 [GRCh38] Chr7:44187278 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001248986]|Monogenic diabetes [RCV003325991]|not provided [RCV001879746] |
Chr7:44145617 [GRCh38] Chr7:44185216 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164091]|Maturity-onset diabetes of the young type 2 [RCV001162074]|Permanent neonatal diabetes mellitus [RCV001162073]|Transient Neonatal Diabetes, Recessive [RCV001162075] |
Chr7:44145272 [GRCh38] Chr7:44184871 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159192]|Maturity-onset diabetes of the young type 2 [RCV001159194]|Permanent neonatal diabetes mellitus [RCV001159193]|Transient Neonatal Diabetes, Recessive [RCV001160541]|Type 2 diabetes mellitus [RCV002483905] |
Chr7:44145726 [GRCh38] Chr7:44185325 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164412]|Maturity-onset diabetes of the young type 2 [RCV001164413]|Monogenic diabetes [RCV003480976]|Permanent neonatal diabetes mellitus [RCV001164411]|Transient Neonatal Diabetes, Recessive [RCV001164414]|Type 2 diabetes mellitus [RCV002483920] |
Chr7:44188944 [GRCh38] Chr7:44228543 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.-102G>C |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159477]|Maturity-onset diabetes of the young type 2 [RCV001159479]|Permanent neonatal diabetes mellitus [RCV001159478]|Transient Neonatal Diabetes, Recessive [RCV001159480] |
Chr7:44189055 [GRCh38] Chr7:44228654 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.307A>T (p.Thr103Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464385]|not provided [RCV001093388] |
Chr7:44152327 [GRCh38] Chr7:44191926 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele |
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003330325]|not provided [RCV001093387]|not specified [RCV003331042] |
Chr7:44145620 [GRCh38] Chr7:44185219 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1233C>G (p.Ser411=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002372534]|not provided [RCV000912194] |
Chr7:44145517 [GRCh38] Chr7:44185116 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val) |
indel |
Monogenic diabetes [RCV003234753] |
Chr7:44149811..44149812 [GRCh38] Chr7:44189410..44189411 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.-97G>A |
single nucleotide variant |
Monogenic diabetes [RCV003326082] |
Chr7:44189050 [GRCh38] Chr7:44228649 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV003230246] |
Chr7:44188953 [GRCh38] Chr7:44228552 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.363+317C>T |
single nucleotide variant |
not provided [RCV001557510] |
Chr7:44151954 [GRCh38] Chr7:44191553 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002409317]|Maturity-onset diabetes of the young type 2 [RCV000987868]|not provided [RCV002549692] |
Chr7:44153326 [GRCh38] Chr7:44192925 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.278A>C (p.Glu93Ala) |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002468458] |
Chr7:44152356 [GRCh38] Chr7:44191955 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.564_567dup (p.Lys190fs) |
duplication |
not provided [RCV001558608] |
Chr7:44149980..44149981 [GRCh38] Chr7:44189579..44189580 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.130G>T (p.Gly44Cys) |
single nucleotide variant |
GCK-related condition [RCV003420621]|not specified [RCV003230884] |
Chr7:44153379 [GRCh38] Chr7:44192978 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1019+107T>C |
single nucleotide variant |
not provided [RCV001598317] |
Chr7:44146356 [GRCh38] Chr7:44185955 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.484-29G>C |
single nucleotide variant |
not provided [RCV001656101] |
Chr7:44150093 [GRCh38] Chr7:44189692 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV003326073] |
Chr7:44145638 [GRCh38] Chr7:44185237 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.59T>C (p.Leu20Pro) |
single nucleotide variant |
not provided [RCV003231847] |
Chr7:44153450 [GRCh38] Chr7:44193049 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1020-95G>A |
single nucleotide variant |
not provided [RCV001569072] |
Chr7:44145825 [GRCh38] Chr7:44185424 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.46-4988G>C |
single nucleotide variant |
not provided [RCV001561062] |
Chr7:44158451 [GRCh38] Chr7:44198050 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys) |
duplication |
Monogenic diabetes [RCV003230885] |
Chr7:44150030..44150031 [GRCh38] Chr7:44189629..44189630 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1020-54G>A |
single nucleotide variant |
not provided [RCV001550593] |
Chr7:44145784 [GRCh38] Chr7:44185383 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1099G>T (p.Val367Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003326018]|not provided [RCV002465963] |
Chr7:44145651 [GRCh38] Chr7:44185250 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.57C>A (p.Ile19=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464671] |
Chr7:44153452 [GRCh38] Chr7:44193051 [GRCh37] Chr7:7p13 |
uncertain significance |
NC_000007.14:g.44189633T>C |
single nucleotide variant |
not provided [RCV001687576] |
Chr7:44189633 [GRCh38] Chr7:44229232 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1217_1219dup (p.Val406dup) |
duplication |
not provided [RCV001663655] |
Chr7:44145530..44145531 [GRCh38] Chr7:44185129..44185130 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.209-179T>C |
single nucleotide variant |
not provided [RCV001621810] |
Chr7:44152604 [GRCh38] Chr7:44192203 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-4713G>A |
single nucleotide variant |
not provided [RCV001637831] |
Chr7:44158176 [GRCh38] Chr7:44197775 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.148del (p.His50fs) |
deletion |
not provided [RCV001658822] |
Chr7:44153361 [GRCh38] Chr7:44192960 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.675C>T (p.Ile225=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162161]|Maturity-onset diabetes of the young type 2 [RCV001162164]|Permanent neonatal diabetes mellitus [RCV001162162]|Transient Neonatal Diabetes, Recessive [RCV001162163] |
Chr7:44149764 [GRCh38] Chr7:44189363 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC |
deletion |
Maturity onset diabetes mellitus in young [RCV002463772]|Monogenic diabetes [RCV003313165]|not provided [RCV001008916] |
Chr7:44145270..44145279 [GRCh38] Chr7:44184869..44184878 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.-455A>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160967]|Maturity onset diabetes mellitus in young [RCV002463781]|Maturity-onset diabetes of the young type 2 [RCV001162557]|Permanent neonatal diabetes mellitus [RCV001160969]|Transient Neonatal Diabetes, Recessive [RCV001160968]|not specified [RCV001819864] |
Chr7:44189408 [GRCh38] Chr7:44229007 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.-137C>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160842]|Maturity onset diabetes mellitus in young [RCV002463780]|Maturity-onset diabetes of the young type 2 [RCV001160844]|Permanent neonatal diabetes mellitus [RCV001160843]|Transient Neonatal Diabetes, Recessive [RCV001160845] |
Chr7:44189090 [GRCh38] Chr7:44228689 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.1254-20_1312del |
deletion |
Maturity onset diabetes mellitus in young [RCV002287476]|Maturity-onset diabetes of the young type 2 [RCV001171548] |
Chr7:44145222..44145300 [GRCh38] Chr7:44184821..44184899 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.1248C>T (p.His416=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463775]|not provided [RCV001093386] |
Chr7:44145502 [GRCh38] Chr7:44185101 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.580-11C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159291]|Maturity onset diabetes mellitus in young [RCV002463778]|Maturity-onset diabetes of the young type 2 [RCV001159292]|Permanent neonatal diabetes mellitus [RCV001159290]|Transient Neonatal Diabetes, Recessive [RCV001160648] |
Chr7:44149870 [GRCh38] Chr7:44189469 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.483+26C>A |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002468267]|not provided [RCV001548322] |
Chr7:44150930 [GRCh38] Chr7:44190529 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.46-5701C>T |
single nucleotide variant |
not provided [RCV001588354] |
Chr7:44159164 [GRCh38] Chr7:44198763 [GRCh37] Chr7:7p13 |
likely benign |
NC_000007.14:g.44189469C>T |
single nucleotide variant |
not provided [RCV001671272] |
Chr7:44189469 [GRCh38] Chr7:44229068 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.46-5594A>G |
single nucleotide variant |
not provided [RCV001583196] |
Chr7:44159057 [GRCh38] Chr7:44198656 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) |
single nucleotide variant |
not provided [RCV001663670] |
Chr7:44149829 [GRCh38] Chr7:44189428 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.46-4460G>T |
single nucleotide variant |
not provided [RCV001586240] |
Chr7:44157923 [GRCh38] Chr7:44197522 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.-217C>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162464]|Maturity onset diabetes mellitus in young [RCV002319667]|Maturity-onset diabetes of the young type 2 [RCV001162466]|Permanent neonatal diabetes mellitus [RCV001162465]|Transient Neonatal Diabetes, Recessive [RCV001162467]|not provided [RCV001556742] |
Chr7:44189170 [GRCh38] Chr7:44228769 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001249061]|Type 2 diabetes mellitus [RCV002499437]|not specified [RCV003230652] |
Chr7:44151045 [GRCh38] Chr7:44190644 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.577G>C (p.Gly193Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001249060] |
Chr7:44149971 [GRCh38] Chr7:44189570 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-456G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001162558]|Maturity onset diabetes mellitus in young [RCV002463782]|Maturity-onset diabetes of the young type 2 [RCV001162561]|Permanent neonatal diabetes mellitus [RCV001162559]|Transient Neonatal Diabetes, Recessive [RCV001162560] |
Chr7:44189409 [GRCh38] Chr7:44229008 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.1253+12C>T |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164095]|Maturity onset diabetes mellitus in young [RCV002463783]|Maturity-onset diabetes of the young type 2 [RCV001164093]|Permanent neonatal diabetes mellitus [RCV001164092]|Transient Neonatal Diabetes, Recessive [RCV001164094] |
Chr7:44145485 [GRCh38] Chr7:44185084 [GRCh37] Chr7:7p13 |
benign|likely benign|uncertain significance |
NM_000162.5(GCK):c.-396C>G |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001164516]|Maturity onset diabetes mellitus in young [RCV002463779]|Maturity-onset diabetes of the young type 2 [RCV001159580]|Permanent neonatal diabetes mellitus [RCV001164518]|Transient Neonatal Diabetes, Recessive [RCV001164517] |
Chr7:44189349 [GRCh38] Chr7:44228948 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464038]|Maturity-onset diabetes of the young type 2 [RCV001249069] |
Chr7:44152318 [GRCh38] Chr7:44191917 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1148del (p.Ser383fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463793]|Maturity-onset diabetes of the young type 2 [RCV001249585] |
Chr7:44145602 [GRCh38] Chr7:44185201 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001159191]|Maturity-onset diabetes of the young type 2 [RCV001159189]|Permanent neonatal diabetes mellitus [RCV001159188]|Transient Neonatal Diabetes, Recessive [RCV001159190] |
Chr7:44145630 [GRCh38] Chr7:44185229 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.483+3G>A |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160649]|Maturity onset diabetes mellitus in young [RCV002464035]|Maturity-onset diabetes of the young type 2 [RCV001160651]|Permanent neonatal diabetes mellitus [RCV001160650]|Transient Neonatal Diabetes, Recessive [RCV001160652]|not provided [RCV002032487] |
Chr7:44150953 [GRCh38] Chr7:44190552 [GRCh37] Chr7:7p13 |
benign|uncertain significance |
NM_000162.5(GCK):c.435C>G (p.Pro145=) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001160655]|Maturity onset diabetes mellitus in young [RCV002464036]|Maturity-onset diabetes of the young type 2 [RCV001160654]|Permanent neonatal diabetes mellitus [RCV001160653]|Transient Neonatal Diabetes, Recessive [RCV001162264] |
Chr7:44151004 [GRCh38] Chr7:44190603 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.35A>G (p.Lys12Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001252995] |
Chr7:44188919 [GRCh38] Chr7:44228518 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.214G>C (p.Gly72Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV001253600] |
Chr7:44152420 [GRCh38] Chr7:44192019 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1154G>A (p.Gly385Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463796]|Type 2 diabetes mellitus [RCV001262180] |
Chr7:44145596 [GRCh38] Chr7:44185195 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu) |
indel |
Maturity onset diabetes mellitus in young [RCV002463794]|Maturity-onset diabetes of the young type 2 [RCV001253516] |
Chr7:44150018..44150019 [GRCh38] Chr7:44189617..44189618 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro) |
single nucleotide variant |
not provided [RCV001663648] |
Chr7:44145603 [GRCh38] Chr7:44185202 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463795]|Maturity-onset diabetes of the young type 2 [RCV001261199] |
Chr7:44145572 [GRCh38] Chr7:44185171 [GRCh37] Chr7:7p13 |
likely pathogenic|likely risk allele |
NM_000162.5(GCK):c.762T>G (p.Asn254Lys) |
single nucleotide variant |
not provided [RCV001349584] |
Chr7:44147751 [GRCh38] Chr7:44187350 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.108G>A (p.Arg36=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464039]|not specified [RCV001264599] |
Chr7:44153401 [GRCh38] Chr7:44193000 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.680-15C>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003329393]|not provided [RCV001289441]|not specified [RCV001269173] |
Chr7:44147848 [GRCh38] Chr7:44187447 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.868G>A (p.Glu290Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463803]|not provided [RCV001288183] |
Chr7:44146614 [GRCh38] Chr7:44186213 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.363+318G>A |
single nucleotide variant |
not provided [RCV001537051] |
Chr7:44151953 [GRCh38] Chr7:44191552 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1219G>A (p.Gly407Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001266778]|Maturity onset diabetes mellitus in young [RCV002463797] |
Chr7:44145531 [GRCh38] Chr7:44185130 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.818A>T (p.Tyr273Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV001266917]|Maturity onset diabetes mellitus in young [RCV002463799] |
Chr7:44147695 [GRCh38] Chr7:44187294 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.822C>A (p.Asp274Glu) |
single nucleotide variant |
not provided [RCV001288182] |
Chr7:44147691 [GRCh38] Chr7:44187290 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.884G>A (p.Gly295Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463804]|Monogenic diabetes [RCV003331105]|not provided [RCV001288184] |
Chr7:44146598 [GRCh38] Chr7:44186197 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|likely risk allele|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.770G>C (p.Trp257Ser) |
single nucleotide variant |
not provided [RCV001288181] |
Chr7:44147743 [GRCh38] Chr7:44187342 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1190G>A (p.Arg397His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003330326]|not provided [RCV001288975] |
Chr7:44145560 [GRCh38] Chr7:44185159 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002287491]|Maturity-onset diabetes of the young type 2 [RCV003399057]|not provided [RCV001288977] |
Chr7:44145250..44145251 [GRCh38] Chr7:44184849..44184850 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.914T>G (p.Val305Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463805]|not provided [RCV001288186] |
Chr7:44146568 [GRCh38] Chr7:44186167 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.230T>C (p.Leu77Pro) |
single nucleotide variant |
not provided [RCV001289436] |
Chr7:44152404 [GRCh38] Chr7:44192003 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.454T>C (p.Phe152Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464040]|not provided [RCV001289439] |
Chr7:44150985 [GRCh38] Chr7:44190584 [GRCh37] Chr7:7p13 |
likely risk allele|uncertain significance |
NM_000162.5(GCK):c.286G>T (p.Glu96Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465863]|not provided [RCV001289437] |
Chr7:44152348 [GRCh38] Chr7:44191947 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) |
microsatellite |
Maturity onset diabetes mellitus in young [RCV002463801]|Monogenic diabetes [RCV003481051]|not specified [RCV001280588] |
Chr7:44147700..44147702 [GRCh38] Chr7:44187299..44187301 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.364-13G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003106181]|not provided [RCV001289438]|not specified [RCV003331107] |
Chr7:44151088 [GRCh38] Chr7:44190687 [GRCh37] Chr7:7p13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) |
single nucleotide variant |
not provided [RCV001289444]|not specified [RCV002246277] |
Chr7:44147776 [GRCh38] Chr7:44187375 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.971T>G (p.Leu324Arg) |
single nucleotide variant |
not provided [RCV001288187] |
Chr7:44146511 [GRCh38] Chr7:44186110 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV001391314]|not specified [RCV001844289] |
Chr7:44151042 [GRCh38] Chr7:44190641 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002322180]|Monogenic diabetes [RCV003446686]|not provided [RCV001288974] |
Chr7:44145587 [GRCh38] Chr7:44185186 [GRCh37] Chr7:7p13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1139A>C (p.His380Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002322436]|Maturity-onset diabetes of the young type 2 [RCV003388013]|Monogenic diabetes [RCV003330328] |
Chr7:44145611 [GRCh38] Chr7:44185210 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003127763]|Maturity-onset diabetes of the young type 2 [RCV001293474]|not provided [RCV001871744] |
Chr7:44150057 [GRCh38] Chr7:44189656 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.115_117del (p.Lys39del) |
deletion |
Maturity onset diabetes mellitus in young [RCV002464439]|Maturity-onset diabetes of the young type 2 [RCV002227265]|not provided [RCV001288972] |
Chr7:44153392..44153394 [GRCh38] Chr7:44192991..44192993 [GRCh37] Chr7:7p13 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.1150G>C (p.Ala384Pro) |
single nucleotide variant |
not provided [RCV001288973] |
Chr7:44145600 [GRCh38] Chr7:44185199 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002287492]|Maturity-onset diabetes of the young type 2 [RCV003399058]|not provided [RCV001288978] |
Chr7:44145172..44145250 [GRCh38] Chr7:44184771..44184849 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.666del (p.Gly223fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002463806]|not provided [RCV001289440] |
Chr7:44149773 [GRCh38] Chr7:44189372 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463807]|Monogenic diabetes [RCV003446687]|not provided [RCV001289443] |
Chr7:44147777 [GRCh38] Chr7:44187376 [GRCh37] Chr7:7p13 |
pathogenic|uncertain risk allele|uncertain significance |
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) |
copy number loss |
Syndactyly [RCV001352654] |
Chr7:41124364..47945566 [GRCh37] Chr7:7p14.1-12.3 |
pathogenic |
NM_000162.5(GCK):c.415A>T (p.Met139Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464449]|Type 2 diabetes mellitus [RCV001329663]|Type 2 diabetes mellitus [RCV002476541] |
Chr7:44151024 [GRCh38] Chr7:44190623 [GRCh37] Chr7:7p13 |
uncertain significance |
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) |
copy number loss |
Intracranial hemorrhage [RCV001352658] |
Chr7:43341583..50171623 [GRCh37] Chr7:7p13-12.2 |
pathogenic |
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463808]|not specified [RCV001293492] |
Chr7:44145225 [GRCh38] Chr7:44184824 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.359dup (p.Met121fs) |
duplication |
Permanent neonatal diabetes mellitus 1 [RCV002290704]|not provided [RCV001387680] |
Chr7:44152274..44152275 [GRCh38] Chr7:44191873..44191874 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.82G>A (p.Glu28Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV001526668] |
Chr7:44153427 [GRCh38] Chr7:44193026 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002368554]|Maturity-onset diabetes of the young type 2 [RCV001527032]|Monogenic diabetes [RCV003399324]|Type 2 diabetes mellitus [RCV002488347]|not provided [RCV001658238] |
Chr7:44149779 [GRCh38] Chr7:44189378 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.46-4391T>C |
single nucleotide variant |
not provided [RCV001715140] |
Chr7:44157854 [GRCh38] Chr7:44197453 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.691A>G (p.Asn231Asp) |
single nucleotide variant |
not specified [RCV001527031] |
Chr7:44147822 [GRCh38] Chr7:44187421 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1216G>A (p.Val406Met) |
single nucleotide variant |
not provided [RCV001756592] |
Chr7:44145534 [GRCh38] Chr7:44185133 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1312T>G (p.Phe438Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227427] |
Chr7:44145222 [GRCh38] Chr7:44184821 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1166TCA[1] (p.Ile390del) |
microsatellite |
not provided [RCV001756593] |
Chr7:44145579..44145581 [GRCh38] Chr7:44185178..44185180 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285492]|not provided [RCV001756594] |
Chr7:44146604 [GRCh38] Chr7:44186203 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV001730073]|not specified [RCV003331193] |
Chr7:44153367 [GRCh38] Chr7:44192966 [GRCh37] Chr7:7p13 |
likely benign|uncertain significance |
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002249054] |
Chr7:44146465 [GRCh38] Chr7:44186064 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.45+3A>T |
single nucleotide variant |
not provided [RCV001773126] |
Chr7:44188906 [GRCh38] Chr7:44228505 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1278_1279del (p.Val427fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV001732836]|Monogenic diabetes [RCV003313229] |
Chr7:44145255..44145256 [GRCh38] Chr7:44184854..44184855 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003326000]|not provided [RCV001732837] |
Chr7:44145576 [GRCh38] Chr7:44185175 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.340dup (p.Ala114fs) |
duplication |
not provided [RCV003237503] |
Chr7:44152293..44152294 [GRCh38] Chr7:44191892..44191893 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) |
single nucleotide variant |
GCK-related condition [RCV003401708]|Monogenic diabetes [RCV003313230]|not provided [RCV001776634] |
Chr7:44145212 [GRCh38] Chr7:44184811 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.18del (p.Arg7fs) |
deletion |
not provided [RCV001783356] |
Chr7:44188936 [GRCh38] Chr7:44228535 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.499T>G (p.Trp167Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463814]|not provided [RCV001773066] |
Chr7:44150049 [GRCh38] Chr7:44189648 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1222G>A (p.Val408Met) |
single nucleotide variant |
not provided [RCV001733092]|not specified [RCV002222722] |
Chr7:44145528 [GRCh38] Chr7:44185127 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.352A>G (p.Thr118Ala) |
single nucleotide variant |
not provided [RCV001774393] |
Chr7:44152282 [GRCh38] Chr7:44191881 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
not provided [RCV001769217] |
Chr7:44188938 [GRCh38] Chr7:44228537 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.501G>T (p.Trp167Cys) |
single nucleotide variant |
not provided [RCV001765792] |
Chr7:44150047 [GRCh38] Chr7:44189646 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-457C>T |
single nucleotide variant |
not provided [RCV001752307] |
Chr7:44189410 [GRCh38] Chr7:44229009 [GRCh37] Chr7:7p13 |
uncertain significance |
NC_000007.14:g.44189504G>A |
single nucleotide variant |
not provided [RCV001754196] |
Chr7:44189504 [GRCh38] Chr7:44229103 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.422A>C (p.His141Pro) |
single nucleotide variant |
not specified [RCV001817801] |
Chr7:44151017 [GRCh38] Chr7:44190616 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs) |
insertion |
not provided [RCV001817868] |
Chr7:44149832..44149833 [GRCh38] Chr7:44189431..44189432 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1319A>G (p.Glu440Gly) |
single nucleotide variant |
not specified [RCV001817894] |
Chr7:44145215 [GRCh38] Chr7:44184814 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.158C>T (p.Ala53Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285503]|not provided [RCV001817947] |
Chr7:44153351 [GRCh38] Chr7:44192950 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.1120G>C (p.Val374Leu) |
single nucleotide variant |
not provided [RCV001818056] |
Chr7:44145630 [GRCh38] Chr7:44185229 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.333C>G (p.Pro111=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002319726]|not specified [RCV001819246] |
Chr7:44152301 [GRCh38] Chr7:44191900 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.-98C>T |
single nucleotide variant |
not specified [RCV001822212] |
Chr7:44189051 [GRCh38] Chr7:44228650 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-299A>G |
single nucleotide variant |
not specified [RCV001817200] |
Chr7:44189252 [GRCh38] Chr7:44228851 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-375C>T |
single nucleotide variant |
not specified [RCV001817382] |
Chr7:44189328 [GRCh38] Chr7:44228927 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.-281G>C |
single nucleotide variant |
not specified [RCV001817445] |
Chr7:44189234 [GRCh38] Chr7:44228833 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.356C>A (p.Ala119Asp) |
single nucleotide variant |
not provided [RCV001817658] |
Chr7:44152278 [GRCh38] Chr7:44191877 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) |
single nucleotide variant |
not provided [RCV001822813] |
Chr7:44152419 [GRCh38] Chr7:44192018 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.423C>A (p.His141Gln) |
single nucleotide variant |
not specified [RCV001817780] |
Chr7:44151016 [GRCh38] Chr7:44190615 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter) |
single nucleotide variant |
not provided [RCV001817893] |
Chr7:44145210 [GRCh38] Chr7:44184809 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.926T>C (p.Leu309Pro) |
single nucleotide variant |
not provided [RCV001817944] |
Chr7:44146556 [GRCh38] Chr7:44186155 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.835G>A (p.Glu279Lys) |
single nucleotide variant |
not specified [RCV001817969] |
Chr7:44147678 [GRCh38] Chr7:44187277 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1245del (p.His416fs) |
deletion |
not provided [RCV001817991] |
Chr7:44145505 [GRCh38] Chr7:44185104 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.317del (p.Gln106fs) |
deletion |
not provided [RCV001818038] |
Chr7:44152317 [GRCh38] Chr7:44191916 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.981C>G (p.Arg327=) |
single nucleotide variant |
not specified [RCV001820468] |
Chr7:44146501 [GRCh38] Chr7:44186100 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.3(GCK):c.-534C>T |
single nucleotide variant |
not specified [RCV001820516] |
Chr7:44189487 [GRCh38] Chr7:44229086 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.511T>G (p.Phe171Val) |
single nucleotide variant |
not provided [RCV001822844] |
Chr7:44150037 [GRCh38] Chr7:44189636 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1020-19_1020-5dup |
duplication |
not specified [RCV001822845] |
Chr7:44145734..44145735 [GRCh38] Chr7:44185333..44185334 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.671T>C (p.Met224Thr) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002052003]|not provided [RCV001975403] |
Chr7:44149768 [GRCh38] Chr7:44189367 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.307del (p.Thr103fs) |
deletion |
not provided [RCV001945880] |
Chr7:44152327 [GRCh38] Chr7:44191926 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.175C>G (p.Pro59Ala) |
single nucleotide variant |
not provided [RCV001837096] |
Chr7:44153334 [GRCh38] Chr7:44192933 [GRCh37] Chr7:7p13 |
likely pathogenic |
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) |
copy number loss |
not specified [RCV002053688] |
Chr7:40778439..50228656 [GRCh37] Chr7:7p14.1-12.2 |
pathogenic |
NM_000162.5(GCK):c.188G>T (p.Arg63Leu) |
single nucleotide variant |
not provided [RCV002022599] |
Chr7:44153321 [GRCh38] Chr7:44192920 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1335T>A (p.Ser445Arg) |
single nucleotide variant |
not provided [RCV002004046] |
Chr7:44145199 [GRCh38] Chr7:44184798 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1271A>C (p.His424Pro) |
single nucleotide variant |
not provided [RCV002001467] |
Chr7:44145263 [GRCh38] Chr7:44184862 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002406905]|not specified [RCV001844458] |
Chr7:44153330 [GRCh38] Chr7:44192929 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1251del (p.Ser418fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV002052274] |
Chr7:44145499 [GRCh38] Chr7:44185098 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1098C>T (p.Ile366=) |
single nucleotide variant |
not specified [RCV001844459] |
Chr7:44145652 [GRCh38] Chr7:44185251 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.863+32C>A |
single nucleotide variant |
not provided [RCV002034837] |
Chr7:44147618 [GRCh38] Chr7:44187217 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.501G>A (p.Trp167Ter) |
single nucleotide variant |
not provided [RCV001962787] |
Chr7:44150047 [GRCh38] Chr7:44189646 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) |
deletion |
Monogenic diabetes [RCV003326004]|not provided [RCV001961876] |
Chr7:44145166..44145194 [GRCh38] Chr7:44184765..44184793 [GRCh37] Chr7:7p13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.140dup (p.Glu48fs) |
duplication |
not provided [RCV002037630] |
Chr7:44153368..44153369 [GRCh38] Chr7:44192967..44192968 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002370606]|not provided [RCV001941538] |
Chr7:44146615 [GRCh38] Chr7:44186214 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1162_1364del203 (p.Val389fs) |
deletion |
not provided [RCV001999987] |
Chr7:44145167..44145585 [GRCh38] Chr7:44184766..44185184 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.320dup (p.Met107fs) |
duplication |
not provided [RCV002000079] |
Chr7:44152313..44152314 [GRCh38] Chr7:44191912..44191913 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.674T>C (p.Ile225Thr) |
single nucleotide variant |
not provided [RCV001942615] |
Chr7:44149765 [GRCh38] Chr7:44189364 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.503C>T (p.Thr168Ile) |
single nucleotide variant |
Monogenic diabetes [RCV003446980]|not provided [RCV001978541] |
Chr7:44150045 [GRCh38] Chr7:44189644 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.251T>C (p.Phe84Ser) |
single nucleotide variant |
not provided [RCV002049532] |
Chr7:44152383 [GRCh38] Chr7:44191982 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003329421]|not provided [RCV001903778] |
Chr7:44146463 [GRCh38] Chr7:44186062 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.48_50del (p.Glu17del) |
deletion |
not provided [RCV001903798] |
Chr7:44153459..44153461 [GRCh38] Chr7:44193058..44193060 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.86del (p.Asp29fs) |
deletion |
not provided [RCV001881812] |
Chr7:44153423 [GRCh38] Chr7:44193022 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.728T>C (p.Leu243Pro) |
single nucleotide variant |
not provided [RCV001953519] |
Chr7:44147785 [GRCh38] Chr7:44187384 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.46-3C>G |
single nucleotide variant |
not provided [RCV001920110] |
Chr7:44153466 [GRCh38] Chr7:44193065 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.388A>T (p.Ile130Phe) |
single nucleotide variant |
not provided [RCV001978311] |
Chr7:44151051 [GRCh38] Chr7:44190650 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.880G>T (p.Gly294Cys) |
single nucleotide variant |
not provided [RCV001879123] |
Chr7:44146602 [GRCh38] Chr7:44186201 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.452C>A (p.Ser151Tyr) |
single nucleotide variant |
not provided [RCV002029930] |
Chr7:44150987 [GRCh38] Chr7:44190586 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.898G>A (p.Glu300Lys) |
single nucleotide variant |
Monogenic diabetes [RCV003326005]|not provided [RCV001931730] |
Chr7:44146584 [GRCh38] Chr7:44186183 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003318510]|not provided [RCV002048713] |
Chr7:44145569 [GRCh38] Chr7:44185168 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.946T>C (p.Phe316Leu) |
single nucleotide variant |
not provided [RCV001998544] |
Chr7:44146536 [GRCh38] Chr7:44186135 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.551T>C (p.Leu184Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003159566]|not provided [RCV001996845]|not specified [RCV002282665] |
Chr7:44149997 [GRCh38] Chr7:44189596 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.717G>C (p.Gln239His) |
single nucleotide variant |
not provided [RCV002031377] |
Chr7:44147796 [GRCh38] Chr7:44187395 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1228G>C (p.Gly410Arg) |
single nucleotide variant |
not provided [RCV001977269] |
Chr7:44145522 [GRCh38] Chr7:44185121 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.349G>C (p.Gly117Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003446984]|not provided [RCV002019233] |
Chr7:44152285 [GRCh38] Chr7:44191884 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.917T>G (p.Leu306Arg) |
single nucleotide variant |
not provided [RCV001903779] |
Chr7:44146565 [GRCh38] Chr7:44186164 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.329T>G (p.Ile110Ser) |
single nucleotide variant |
not provided [RCV001903794] |
Chr7:44152305 [GRCh38] Chr7:44191904 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.146C>T (p.Thr49Ile) |
single nucleotide variant |
not provided [RCV002047952] |
Chr7:44153363 [GRCh38] Chr7:44192962 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.776C>A (p.Ala259Asp) |
single nucleotide variant |
not provided [RCV002009866] |
Chr7:44147737 [GRCh38] Chr7:44187336 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.181T>A (p.Tyr61Asn) |
single nucleotide variant |
not provided [RCV001955981] |
Chr7:44153328 [GRCh38] Chr7:44192927 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.600G>A (p.Val200=) |
single nucleotide variant |
not provided [RCV002226133] |
Chr7:44149839 [GRCh38] Chr7:44189438 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.483+7C>T |
single nucleotide variant |
not provided [RCV002107182] |
Chr7:44150949 [GRCh38] Chr7:44190548 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.579+12C>G |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002494421]|not provided [RCV002128363] |
Chr7:44149957 [GRCh38] Chr7:44189556 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.483+8G>A |
single nucleotide variant |
not provided [RCV002087934] |
Chr7:44150948 [GRCh38] Chr7:44190547 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.46-5598A>T |
single nucleotide variant |
Type 2 diabetes mellitus [RCV002505887]|not provided [RCV002226064] |
Chr7:44159061 [GRCh38] Chr7:44198660 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.751A>G (p.Met251Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002225198] |
Chr7:44147762 [GRCh38] Chr7:44187361 [GRCh37] Chr7:7p13 |
pathogenic |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002337411]|Maturity-onset diabetes of the young type 2 [RCV002227434] |
Chr7:44150024 [GRCh38] Chr7:44189623 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.269A>C (p.Lys90Thr) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV002221403] |
Chr7:44152365 [GRCh38] Chr7:44191964 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.270G>A (p.Lys90=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002427635]|Type 2 diabetes mellitus [RCV002486876]|not provided [RCV002122245] |
Chr7:44152364 [GRCh38] Chr7:44191963 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002249055] |
Chr7:44146565 [GRCh38] Chr7:44186164 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.579G>T (p.Gly193=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003329437]|Maturity-onset diabetes of the young type 3 [RCV002244300] |
Chr7:44149969 [GRCh38] Chr7:44189568 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.614A>G (p.Asp205Gly) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227422] |
Chr7:44149825 [GRCh38] Chr7:44189424 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227424]|Monogenic diabetes [RCV002509759] |
Chr7:44147742 [GRCh38] Chr7:44187341 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003329435]|Maturity-onset diabetes of the young type 2 [RCV002227431]|not provided [RCV002473357] |
Chr7:44153301 [GRCh38] Chr7:44192900 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.208+2T>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227432] |
Chr7:44153299 [GRCh38] Chr7:44192898 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.54G>T (p.Gln18His) |
single nucleotide variant |
not provided [RCV002222321] |
Chr7:44153455 [GRCh38] Chr7:44193054 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1020-7C>T |
single nucleotide variant |
not provided [RCV003116881] |
Chr7:44145737 [GRCh38] Chr7:44185336 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.437T>C (p.Leu146Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003326023]|not provided [RCV003120282] |
Chr7:44151002 [GRCh38] Chr7:44190601 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.692A>T (p.Asn231Ile) |
single nucleotide variant |
Hyperinsulinism due to glucokinase deficiency [RCV003147992]|Maturity-onset diabetes of the young type 2 [RCV003147993]|Permanent neonatal diabetes mellitus 1 [RCV003147994]|Type 2 diabetes mellitus [RCV003147991] |
Chr7:44147821 [GRCh38] Chr7:44187420 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.941T>G (p.Leu314Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227425] |
Chr7:44146541 [GRCh38] Chr7:44186140 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002250012] |
Chr7:44150047 [GRCh38] Chr7:44189646 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) |
duplication |
Maturity-onset diabetes of the young type 2 [RCV002272801] |
Chr7:44149797..44149798 [GRCh38] Chr7:44189396..44189397 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.614A>T (p.Asp205Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227423] |
Chr7:44149825 [GRCh38] Chr7:44189424 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_033507.3(GCK):c.520G>C (p.Ala174Pro) |
single nucleotide variant |
not provided [RCV002255216] |
Chr7:44150031 [GRCh38] Chr7:44189630 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.864G>C (p.Leu288=) |
single nucleotide variant |
not provided [RCV002254461]|not specified [RCV003479415] |
Chr7:44146618 [GRCh38] Chr7:44186217 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.52C>T (p.Gln18Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227421] |
Chr7:44153457 [GRCh38] Chr7:44193056 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227426] |
Chr7:44145671 [GRCh38] Chr7:44185270 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.475A>G (p.Ile159Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227428]|not provided [RCV002280206] |
Chr7:44150964 [GRCh38] Chr7:44190563 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.102G>A (p.Met34Ile) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227430] |
Chr7:44153407 [GRCh38] Chr7:44193006 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002227433] |
Chr7:44150063 [GRCh38] Chr7:44189662 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs) |
deletion |
Monogenic diabetes [RCV003234756] |
Chr7:44145142..44145143 [GRCh38] Chr7:44184741..44184742 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.810_814del (p.Leu271fs) |
deletion |
Monogenic diabetes [RCV003230883] |
Chr7:44147699..44147703 [GRCh38] Chr7:44187298..44187302 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.774C>T (p.Gly258=) |
single nucleotide variant |
not provided [RCV002278983] |
Chr7:44147739 [GRCh38] Chr7:44187338 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002283770] |
Chr7:44151065 [GRCh38] Chr7:44190664 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.785dup (p.Asp262fs) |
duplication |
Maturity-onset diabetes of the young type 2 [RCV002290224] |
Chr7:44147727..44147728 [GRCh38] Chr7:44187326..44187327 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002290240] |
Chr7:44146616 [GRCh38] Chr7:44186215 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1270C>T (p.His424Tyr) |
single nucleotide variant |
GCK-related condition [RCV003395445]|Maturity-onset diabetes of the young type 2 [RCV002290072]|Monogenic diabetes [RCV003445164] |
Chr7:44145264 [GRCh38] Chr7:44184863 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.469G>T (p.Glu157Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002289142] |
Chr7:44150970 [GRCh38] Chr7:44190569 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.209-1G>A |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285554]|not provided [RCV003096186] |
Chr7:44152426 [GRCh38] Chr7:44192025 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.461T>C (p.Val154Ala) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285557] |
Chr7:44150978 [GRCh38] Chr7:44190577 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002348865] |
Chr7:44145600 [GRCh38] Chr7:44185199 [GRCh37] Chr7:7p13 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000162.5(GCK):c.149A>T (p.His50Leu) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002289503] |
Chr7:44153360 [GRCh38] Chr7:44192959 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.881G>T (p.Gly294Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002286464] |
Chr7:44146601 [GRCh38] Chr7:44186200 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1354G>C (p.Val452Leu) |
single nucleotide variant |
Familial hyperinsulinism [RCV003236379] |
Chr7:44145180 [GRCh38] Chr7:44184779 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1351del (p.Leu451fs) |
deletion |
Monogenic diabetes [RCV003313269]|not provided [RCV002288201] |
Chr7:44145183 [GRCh38] Chr7:44184782 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.150dup (p.Glu51Ter) |
duplication |
Maturity-onset diabetes of the young type 2 [RCV002289504] |
Chr7:44153358..44153359 [GRCh38] Chr7:44192957..44192958 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1019+2T>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285550] |
Chr7:44146461 [GRCh38] Chr7:44186060 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.122T>G (p.Met41Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285551] |
Chr7:44153387 [GRCh38] Chr7:44192986 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.296G>A (p.Trp99Ter) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285555] |
Chr7:44152338 [GRCh38] Chr7:44191937 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.351_358del (p.Thr118fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV002285556] |
Chr7:44152276..44152283 [GRCh38] Chr7:44191875..44191882 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.864-1G>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285561] |
Chr7:44146619 [GRCh38] Chr7:44186218 [GRCh37] Chr7:7p13 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_000162.5(GCK):c.300C>T (p.Ser100=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002435759] |
Chr7:44152334 [GRCh38] Chr7:44191933 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.132C>T (p.Gly44=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002385891] |
Chr7:44153377 [GRCh38] Chr7:44192976 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.389T>C (p.Ile130Thr) |
single nucleotide variant |
not provided [RCV002281461] |
Chr7:44151050 [GRCh38] Chr7:44190649 [GRCh37] Chr7:7p13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.580-13_580-1del |
deletion |
Maturity-onset diabetes of the young type 2 [RCV002285559] |
Chr7:44149860..44149872 [GRCh38] Chr7:44189459..44189471 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002385433] |
Chr7:44145224 [GRCh38] Chr7:44184823 [GRCh37] Chr7:7p13 |
uncertain risk allele|uncertain significance |
NM_000162.5(GCK):c.1123T>A (p.Ser375Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463842] |
Chr7:44145627 [GRCh38] Chr7:44185226 [GRCh37] Chr7:7p13 |
likely risk allele |
NM_000162.5(GCK):c.580-13T>C |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463979] |
Chr7:44149872 [GRCh38] Chr7:44189471 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1013T>G (p.Val338Gly) |
single nucleotide variant |
not provided [RCV002297574] |
Chr7:44146469 [GRCh38] Chr7:44186068 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.384G>C (p.Glu128Asp) |
single nucleotide variant |
not provided [RCV002281393] |
Chr7:44151055 [GRCh38] Chr7:44190654 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1247A>G (p.His416Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285552] |
Chr7:44145503 [GRCh38] Chr7:44185102 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002443287]|Maturity-onset diabetes of the young type 2 [RCV002285553] |
Chr7:44145270 [GRCh38] Chr7:44184869 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.878T>G (p.Ile293Arg) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002285562] |
Chr7:44146604 [GRCh38] Chr7:44186203 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet) |
microsatellite |
Maturity onset diabetes mellitus in young [RCV002368789] |
Chr7:44149806..44149807 [GRCh38] Chr7:44189405..44189406 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.962_963dup (p.Glu322fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002385341] |
Chr7:44146518..44146519 [GRCh38] Chr7:44186117..44186118 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1145G>C (p.Cys382Ser) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002289017] |
Chr7:44145605 [GRCh38] Chr7:44185204 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.367T>C (p.Phe123Leu) |
single nucleotide variant |
not provided [RCV003151529] |
Chr7:44151072 [GRCh38] Chr7:44190671 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1020-33_1025del |
deletion |
not provided [RCV003152185] |
Chr7:44145725..44145763 [GRCh38] Chr7:44185324..44185362 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.940del (p.Leu314fs) |
deletion |
Maturity-onset diabetes of the young type 2 [RCV002466918] |
Chr7:44146542 [GRCh38] Chr7:44186141 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1108G>C (p.Ala370Pro) |
single nucleotide variant |
not provided [RCV002475237] |
Chr7:44145642 [GRCh38] Chr7:44185241 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.137G>A (p.Arg46Lys) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002465951] |
Chr7:44153372 [GRCh38] Chr7:44192971 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.995C>T (p.Thr332Met) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463843] |
Chr7:44146487 [GRCh38] Chr7:44186086 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1020-10C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463845] |
Chr7:44145740 [GRCh38] Chr7:44185339 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.386G>T (p.Cys129Phe) |
single nucleotide variant |
not provided [RCV002475239] |
Chr7:44151053 [GRCh38] Chr7:44190652 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1253+1G>C |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002416667] |
Chr7:44145496 [GRCh38] Chr7:44185095 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.397T>G (p.Phe133Val) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002466914] |
Chr7:44151042 [GRCh38] Chr7:44190641 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.609_610del (p.Val203_Asn204insTer) |
deletion |
not provided [RCV002474164] |
Chr7:44149829..44149830 [GRCh38] Chr7:44189428..44189429 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.183C>T (p.Tyr61=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464668]|not provided [RCV003103169] |
Chr7:44153326 [GRCh38] Chr7:44192925 [GRCh37] Chr7:7p13 |
benign|likely benign |
NM_000162.5(GCK):c.98T>G (p.Val33Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002464672] |
Chr7:44153411 [GRCh38] Chr7:44193010 [GRCh37] Chr7:7p13 |
likely risk allele |
NM_000162.5(GCK):c.234C>A (p.Asp78Glu) |
single nucleotide variant |
not provided [RCV002475241] |
Chr7:44152400 [GRCh38] Chr7:44191999 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.792C>T (p.Gly264=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463833] |
Chr7:44147721 [GRCh38] Chr7:44187320 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.332C>T (p.Pro111Leu) |
single nucleotide variant |
not provided [RCV002475233] |
Chr7:44152302 [GRCh38] Chr7:44191901 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.524G>T (p.Gly175Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002344350] |
Chr7:44150024 [GRCh38] Chr7:44189623 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.946T>G (p.Phe316Val) |
single nucleotide variant |
not provided [RCV002475235] |
Chr7:44146536 [GRCh38] Chr7:44186135 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.167A>C (p.Lys56Thr) |
single nucleotide variant |
not provided [RCV002475236]|not specified [RCV003479431] |
Chr7:44153342 [GRCh38] Chr7:44192941 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.707A>T (p.Glu236Val) |
single nucleotide variant |
not provided [RCV002475238] |
Chr7:44147806 [GRCh38] Chr7:44187405 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.615C>A (p.Asp205Glu) |
single nucleotide variant |
not provided [RCV002475240] |
Chr7:44149824 [GRCh38] Chr7:44189423 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.85G>T (p.Asp29Tyr) |
single nucleotide variant |
not provided [RCV002475242] |
Chr7:44153424 [GRCh38] Chr7:44193023 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1242G>T (p.Lys414Asn) |
single nucleotide variant |
not provided [RCV002475243] |
Chr7:44145508 [GRCh38] Chr7:44185107 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1220G>A (p.Gly407Asp) |
single nucleotide variant |
not provided [RCV002475244] |
Chr7:44145530 [GRCh38] Chr7:44185129 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.710A>T (p.Glu237Val) |
single nucleotide variant |
not provided [RCV002475245] |
Chr7:44147803 [GRCh38] Chr7:44187402 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.680-15C>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463872] |
Chr7:44147848 [GRCh38] Chr7:44187447 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.904G>T (p.Val302Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463873] |
Chr7:44146578 [GRCh38] Chr7:44186177 [GRCh37] Chr7:7p13 |
uncertain risk allele |
NM_000162.5(GCK):c.46-5907_46-5906dup |
duplication |
Maturity onset diabetes mellitus in young [RCV002463975] |
Chr7:44159368..44159369 [GRCh38] Chr7:44198967..44198968 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1072C>T (p.Arg358Ter) |
single nucleotide variant |
not provided [RCV002467217] |
Chr7:44145678 [GRCh38] Chr7:44185277 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.-449G>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463831] |
Chr7:44189402 [GRCh38] Chr7:44229001 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1253+2T>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463832] |
Chr7:44145495 [GRCh38] Chr7:44185094 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1229G>T (p.Gly410Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463834] |
Chr7:44145521 [GRCh38] Chr7:44185120 [GRCh37] Chr7:7p13 |
likely risk allele |
NM_000162.5(GCK):c.1019+16G>T |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463844] |
Chr7:44146447 [GRCh38] Chr7:44186046 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.540T>C (p.Asn180=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002463990] |
Chr7:44150008 [GRCh38] Chr7:44189607 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.1161G>C (p.Ala387=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002357835] |
Chr7:44145589 [GRCh38] Chr7:44185188 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1141_1142del (p.Met381fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002456979] |
Chr7:44145608..44145609 [GRCh38] Chr7:44185207..44185208 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.766G>T (p.Glu256Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002400446]|not provided [RCV003099711] |
Chr7:44147747 [GRCh38] Chr7:44187346 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.628A>G (p.Met210Val) |
single nucleotide variant |
Monogenic diabetes [RCV003234754] |
Chr7:44149811 [GRCh38] Chr7:44189410 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.363+2T>A |
single nucleotide variant |
Monogenic diabetes [RCV003234755] |
Chr7:44152269 [GRCh38] Chr7:44191868 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.756C>T (p.Cys252=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002394077] |
Chr7:44147757 [GRCh38] Chr7:44187356 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.830T>A (p.Val277Glu) |
single nucleotide variant |
not provided [RCV002305212] |
Chr7:44147683 [GRCh38] Chr7:44187282 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.579+1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002359763] |
Chr7:44149968 [GRCh38] Chr7:44189567 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.580-1G>C |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002359893] |
Chr7:44149860 [GRCh38] Chr7:44189459 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002432802] |
Chr7:44146475 [GRCh38] Chr7:44186074 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.478G>C (p.Asp160His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002330710] |
Chr7:44150961 [GRCh38] Chr7:44190560 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.360G>A (p.Glu120=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002455324] |
Chr7:44152274 [GRCh38] Chr7:44191873 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.447C>T (p.Thr149=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002328539] |
Chr7:44150992 [GRCh38] Chr7:44190591 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1182C>T (p.Arg394=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002335303] |
Chr7:44145568 [GRCh38] Chr7:44185167 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.245C>T (p.Thr82Ile) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV002308507] |
Chr7:44152389 [GRCh38] Chr7:44191988 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.483+1G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002338076] |
Chr7:44150955 [GRCh38] Chr7:44190554 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002325992]|Monogenic diabetes [RCV003330331]|not provided [RCV003102308] |
Chr7:44145621 [GRCh38] Chr7:44185220 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.556C>A (p.Arg186=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002352038] |
Chr7:44149992 [GRCh38] Chr7:44189591 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1086C>T (p.Thr362=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002425816] |
Chr7:44145664 [GRCh38] Chr7:44185263 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1288C>G (p.Leu430Val) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002383233] |
Chr7:44145246 [GRCh38] Chr7:44184845 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.455T>C (p.Phe152Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002340196] |
Chr7:44150984 [GRCh38] Chr7:44190583 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.568A>T (p.Lys190Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002347463] |
Chr7:44149980 [GRCh38] Chr7:44189579 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002434767] |
Chr7:44145274 [GRCh38] Chr7:44184873 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.656del (p.Gln219fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002364444] |
Chr7:44149783 [GRCh38] Chr7:44189382 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.535A>G (p.Asn179Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002347008] |
Chr7:44150013 [GRCh38] Chr7:44189612 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.731T>G (p.Val244Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002380111] |
Chr7:44147782 [GRCh38] Chr7:44187381 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1156del (p.Leu386fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002355448]|not provided [RCV003094397] |
Chr7:44145594 [GRCh38] Chr7:44185193 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.695C>A (p.Ala232Asp) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002362470] |
Chr7:44147818 [GRCh38] Chr7:44187417 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1137G>A (p.Ala379=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002326332]|not provided [RCV003099390] |
Chr7:44145613 [GRCh38] Chr7:44185212 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.731T>A (p.Val244Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002380105]|not provided [RCV003098539] |
Chr7:44147782 [GRCh38] Chr7:44187381 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.982G>T (p.Gly328Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002376867]|Monogenic diabetes [RCV003235717] |
Chr7:44146500 [GRCh38] Chr7:44186099 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.524G>A (p.Gly175Glu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002340943] |
Chr7:44150024 [GRCh38] Chr7:44189623 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs) |
indel |
Maturity onset diabetes mellitus in young [RCV002380620]|Monogenic diabetes [RCV003330332] |
Chr7:44145237..44145239 [GRCh38] Chr7:44184836..44184838 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.525A>G (p.Gly175=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002340990] |
Chr7:44150023 [GRCh38] Chr7:44189622 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.445dup (p.Thr149fs) |
duplication |
Maturity onset diabetes mellitus in young [RCV002328413] |
Chr7:44150993..44150994 [GRCh38] Chr7:44190592..44190593 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.871A>C (p.Lys291Gln) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002449739] |
Chr7:44146611 [GRCh38] Chr7:44186210 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.151G>T (p.Glu51Ter) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002392406] |
Chr7:44153358 [GRCh38] Chr7:44192957 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1077del (p.Ser360fs) |
deletion |
Maturity onset diabetes mellitus in young [RCV002421967] |
Chr7:44145673 [GRCh38] Chr7:44185272 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002387880] |
Chr7:44145186 [GRCh38] Chr7:44184785 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1389G>A (p.Leu463=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV002396615] |
Chr7:44145145 [GRCh38] Chr7:44184744 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1180C>T (p.Arg394Cys) |
single nucleotide variant |
not provided [RCV002681549] |
Chr7:44145570 [GRCh38] Chr7:44185169 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1184A>G (p.Glu395Gly) |
single nucleotide variant |
not provided [RCV002750992] |
Chr7:44145566 [GRCh38] Chr7:44185165 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1234G>C (p.Val412Leu) |
single nucleotide variant |
not provided [RCV002512334] |
Chr7:44145516 [GRCh38] Chr7:44185115 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1265G>T (p.Arg422Leu) |
single nucleotide variant |
GCK-related condition [RCV003418533]|not provided [RCV002462481] |
Chr7:44145269 [GRCh38] Chr7:44184868 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.468del (p.His156fs) |
deletion |
not provided [RCV002616917] |
Chr7:44150971 [GRCh38] Chr7:44190570 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.46-3C>T |
single nucleotide variant |
not provided [RCV002819275] |
Chr7:44153466 [GRCh38] Chr7:44193065 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.852C>G (p.Pro284=) |
single nucleotide variant |
not provided [RCV002638991] |
Chr7:44147661 [GRCh38] Chr7:44187260 [GRCh37] Chr7:7p13 |
likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.1253+9G>A |
single nucleotide variant |
not provided [RCV003017906] |
Chr7:44145488 [GRCh38] Chr7:44185087 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1254-26G>A |
single nucleotide variant |
not provided [RCV002569787] |
Chr7:44145306 [GRCh38] Chr7:44184905 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.756C>G (p.Cys252Trp) |
single nucleotide variant |
not provided [RCV003100637] |
Chr7:44147757 [GRCh38] Chr7:44187356 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.146C>G (p.Thr49Ser) |
single nucleotide variant |
not provided [RCV003018951] |
Chr7:44153363 [GRCh38] Chr7:44192962 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.613G>T (p.Asp205Tyr) |
single nucleotide variant |
not provided [RCV003037218] |
Chr7:44149826 [GRCh38] Chr7:44189425 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.308C>G (p.Thr103Ser) |
single nucleotide variant |
not provided [RCV003037223] |
Chr7:44152326 [GRCh38] Chr7:44191925 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.45G>A (p.Lys15=) |
single nucleotide variant |
Monogenic diabetes [RCV003234596]|not provided [RCV003037225]|not specified [RCV003388145] |
Chr7:44188909 [GRCh38] Chr7:44228508 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1315_1322del (p.Ile439fs) |
deletion |
not provided [RCV002885182] |
Chr7:44145212..44145219 [GRCh38] Chr7:44184811..44184818 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.657G>A (p.Gln219=) |
single nucleotide variant |
not provided [RCV002885350] |
Chr7:44149782 [GRCh38] Chr7:44189381 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.44A>G (p.Lys15Arg) |
single nucleotide variant |
not provided [RCV003035762] |
Chr7:44188910 [GRCh38] Chr7:44228509 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1151C>A (p.Ala384Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003358061]|not provided [RCV003037213] |
Chr7:44145599 [GRCh38] Chr7:44185198 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.880G>C (p.Gly294Arg) |
single nucleotide variant |
not provided [RCV003019186] |
Chr7:44146602 [GRCh38] Chr7:44186201 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1020-1_1020delinsTT |
indel |
not provided [RCV002867585] |
Chr7:44145730..44145731 [GRCh38] Chr7:44185329..44185330 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1093G>A (p.Asp365Asn) |
single nucleotide variant |
not provided [RCV003037214] |
Chr7:44145657 [GRCh38] Chr7:44185256 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.834C>G (p.Asp278Glu) |
single nucleotide variant |
not provided [RCV003037215] |
Chr7:44147679 [GRCh38] Chr7:44187278 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.719A>C (p.Asn240Thr) |
single nucleotide variant |
not provided [RCV003037216] |
Chr7:44147794 [GRCh38] Chr7:44187393 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.598G>C (p.Val200Leu) |
single nucleotide variant |
not provided [RCV003037219] |
Chr7:44149841 [GRCh38] Chr7:44189440 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.526G>A (p.Ala176Thr) |
single nucleotide variant |
not provided [RCV003037220] |
Chr7:44150022 [GRCh38] Chr7:44189621 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.451T>C (p.Ser151Pro) |
single nucleotide variant |
not provided [RCV003037221] |
Chr7:44150988 [GRCh38] Chr7:44190587 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.56T>A (p.Ile19Asn) |
single nucleotide variant |
not provided [RCV003037224] |
Chr7:44153453 [GRCh38] Chr7:44193052 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003318514]|not provided [RCV003084866] |
Chr7:44145569 [GRCh38] Chr7:44185168 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1111T>G (p.Cys371Gly) |
single nucleotide variant |
not provided [RCV002933238] |
Chr7:44145639 [GRCh38] Chr7:44185238 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.685G>A (p.Gly229Ser) |
single nucleotide variant |
not provided [RCV003084868] |
Chr7:44147828 [GRCh38] Chr7:44187427 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.568A>G (p.Lys190Glu) |
single nucleotide variant |
not provided [RCV003042239] |
Chr7:44149980 [GRCh38] Chr7:44189579 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.481A>T (p.Lys161Ter) |
single nucleotide variant |
not provided [RCV002954283] |
Chr7:44150958 [GRCh38] Chr7:44190557 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.920T>C (p.Leu307Pro) |
single nucleotide variant |
not provided [RCV003040639] |
Chr7:44146562 [GRCh38] Chr7:44186161 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.255_256del (p.Arg85fs) |
deletion |
not provided [RCV003007767] |
Chr7:44152378..44152379 [GRCh38] Chr7:44191977..44191978 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.680-19C>T |
single nucleotide variant |
not provided [RCV002574111] |
Chr7:44147852 [GRCh38] Chr7:44187451 [GRCh37] Chr7:7p13 |
likely benign|conflicting interpretations of pathogenicity |
NM_000162.5(GCK):c.490del (p.Leu164fs) |
deletion |
not provided [RCV002919002] |
Chr7:44150058 [GRCh38] Chr7:44189657 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1254-13C>G |
single nucleotide variant |
not provided [RCV002666977] |
Chr7:44145293 [GRCh38] Chr7:44184892 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1153G>C (p.Gly385Arg) |
single nucleotide variant |
not provided [RCV002958450] |
Chr7:44145597 [GRCh38] Chr7:44185196 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.465G>A (p.Arg155=) |
single nucleotide variant |
not provided [RCV002985748] |
Chr7:44150974 [GRCh38] Chr7:44190573 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1201G>A (p.Val401Ile) |
single nucleotide variant |
not provided [RCV003049053] |
Chr7:44145549 [GRCh38] Chr7:44185148 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1020-16T>A |
single nucleotide variant |
not provided [RCV002938613] |
Chr7:44145746 [GRCh38] Chr7:44185345 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.715C>T (p.Gln239Ter) |
single nucleotide variant |
not provided [RCV003060101] |
Chr7:44147798 [GRCh38] Chr7:44187397 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.410A>G (p.His137Arg) |
single nucleotide variant |
not provided [RCV003060108] |
Chr7:44151029 [GRCh38] Chr7:44190628 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.46-1G>A |
single nucleotide variant |
not provided [RCV003060110] |
Chr7:44153464 [GRCh38] Chr7:44193063 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1232C>T (p.Ser411Phe) |
single nucleotide variant |
not provided [RCV003060097] |
Chr7:44145518 [GRCh38] Chr7:44185117 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1359G>T (p.Ser453=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003167563]|not provided [RCV002646514] |
Chr7:44145175 [GRCh38] Chr7:44184774 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.314A>G (p.His105Arg) |
single nucleotide variant |
not provided [RCV003009988] |
Chr7:44152320 [GRCh38] Chr7:44191919 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.852C>T (p.Pro284=) |
single nucleotide variant |
not provided [RCV002770483] |
Chr7:44147661 [GRCh38] Chr7:44187260 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1195G>T (p.Glu399Ter) |
single nucleotide variant |
not provided [RCV003060098] |
Chr7:44145555 [GRCh38] Chr7:44185154 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.668G>T (p.Gly223Val) |
single nucleotide variant |
not provided [RCV003060105] |
Chr7:44149771 [GRCh38] Chr7:44189370 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.638G>A (p.Cys213Tyr) |
single nucleotide variant |
not provided [RCV003060106] |
Chr7:44149801 [GRCh38] Chr7:44189400 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.679G>A (p.Gly227Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003329455]|not provided [RCV003060103] |
Chr7:44149760 [GRCh38] Chr7:44189359 [GRCh37] Chr7:7p13 |
pathogenic|uncertain significance |
NM_000162.5(GCK):c.1253+2T>C |
single nucleotide variant |
not provided [RCV003027068] |
Chr7:44145495 [GRCh38] Chr7:44185094 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.851C>T (p.Pro284Leu) |
single nucleotide variant |
not provided [RCV003031070] |
Chr7:44147662 [GRCh38] Chr7:44187261 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs) |
microsatellite |
not provided [RCV002604226] |
Chr7:44145562..44145563 [GRCh38] Chr7:44185161..44185162 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.264G>A (p.Leu88=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003161878]|not provided [RCV002582354] |
Chr7:44152370 [GRCh38] Chr7:44191969 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1079C>G (p.Ser360Trp) |
single nucleotide variant |
not provided [RCV002635959] |
Chr7:44145671 [GRCh38] Chr7:44185270 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.3(GCK):c.-1460G>A |
single nucleotide variant |
not provided [RCV003135343] |
Chr7:44190413 [GRCh38] Chr7:44230012 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003326085] |
Chr7:44145561 [GRCh38] Chr7:44185160 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr) |
single nucleotide variant |
Type 2 diabetes mellitus [RCV003224686] |
Chr7:44152402 [GRCh38] Chr7:44192001 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.562G>C (p.Ala188Pro) |
single nucleotide variant |
not provided [RCV003228508] |
Chr7:44149986 [GRCh38] Chr7:44189585 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs) |
insertion |
Type 2 diabetes mellitus [RCV003224852] |
Chr7:44153386..44153387 [GRCh38] Chr7:44192985..44192986 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.318G>C (p.Gln106His) |
single nucleotide variant |
not provided [RCV003227332] |
Chr7:44152316 [GRCh38] Chr7:44191915 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1213A>G (p.Thr405Ala) |
single nucleotide variant |
not provided [RCV003135342] |
Chr7:44145537 [GRCh38] Chr7:44185136 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.458C>A (p.Pro153His) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003283408] |
Chr7:44150981 [GRCh38] Chr7:44190580 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.579+4del |
deletion |
Maturity onset diabetes mellitus in young [RCV003329474]|Maturity-onset diabetes of the young type 2 [RCV003142422] |
Chr7:44149965 [GRCh38] Chr7:44189564 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.12_13del (p.Asp4fs) |
deletion |
not provided [RCV003145824] |
Chr7:44188941..44188942 [GRCh38] Chr7:44228540..44228541 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.921C>G (p.Leu307=) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003221248] |
Chr7:44146561 [GRCh38] Chr7:44186160 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.360G>C (p.Glu120Asp) |
single nucleotide variant |
Type 2 diabetes mellitus [RCV003228693] |
Chr7:44152274 [GRCh38] Chr7:44191873 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.317A>C (p.Gln106Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003323266] |
Chr7:44152317 [GRCh38] Chr7:44191916 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1142T>C (p.Met381Thr) |
single nucleotide variant |
Monogenic diabetes [RCV003318528] |
Chr7:44145608 [GRCh38] Chr7:44185207 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.502A>C (p.Thr168Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003318523] |
Chr7:44150046 [GRCh38] Chr7:44189645 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1373_1376del (p.Lys458fs) |
deletion |
Monogenic diabetes [RCV003318524] |
Chr7:44145158..44145161 [GRCh38] Chr7:44184757..44184760 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1254-1G>C |
single nucleotide variant |
Monogenic diabetes [RCV003318525] |
Chr7:44145281 [GRCh38] Chr7:44184880 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003318527] |
Chr7:44145575 [GRCh38] Chr7:44185174 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1331dup (p.Ser445fs) |
duplication |
Monogenic diabetes [RCV003318526] |
Chr7:44145202..44145203 [GRCh38] Chr7:44184801..44184802 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1121T>A (p.Val374Glu) |
single nucleotide variant |
Monogenic diabetes [RCV003326074] |
Chr7:44145629 [GRCh38] Chr7:44185228 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.775G>T (p.Ala259Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003326080] |
Chr7:44147738 [GRCh38] Chr7:44187337 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003326088] |
Chr7:44145639 [GRCh38] Chr7:44185238 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003326077] |
Chr7:44145138 [GRCh38] Chr7:44184737 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.613G>C (p.Asp205His) |
single nucleotide variant |
not provided [RCV003327892] |
Chr7:44149826 [GRCh38] Chr7:44189425 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.898G>C (p.Glu300Gln) |
single nucleotide variant |
Monogenic diabetes [RCV003326075] |
Chr7:44146584 [GRCh38] Chr7:44186183 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp) |
single nucleotide variant |
Monogenic diabetes [RCV003326076] |
Chr7:44145136 [GRCh38] Chr7:44184735 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.884G>T (p.Gly295Val) |
single nucleotide variant |
Monogenic diabetes [RCV003326078] |
Chr7:44146598 [GRCh38] Chr7:44186197 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.782G>A (p.Gly261Glu) |
single nucleotide variant |
Monogenic diabetes [RCV003326079] |
Chr7:44147731 [GRCh38] Chr7:44187330 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.437T>G (p.Leu146Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003326081] |
Chr7:44151002 [GRCh38] Chr7:44190601 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.110T>G (p.Met37Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003326083] |
Chr7:44153399 [GRCh38] Chr7:44192998 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1363dup (p.Val455fs) |
duplication |
Monogenic diabetes [RCV003326086] |
Chr7:44145170..44145171 [GRCh38] Chr7:44184769..44184770 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.502A>G (p.Thr168Ala) |
single nucleotide variant |
Monogenic diabetes [RCV003318522] |
Chr7:44150046 [GRCh38] Chr7:44189645 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.580-3C>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330051]|Maturity-onset diabetes of the young type 2 [RCV003447654] |
Chr7:44149862 [GRCh38] Chr7:44189461 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.580-3del |
deletion |
Maturity onset diabetes mellitus in young [RCV003330052] |
Chr7:44149862 [GRCh38] Chr7:44189461 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.208G>C (p.Glu70Gln) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330064] |
Chr7:44153301 [GRCh38] Chr7:44192900 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.680-6C>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330056] |
Chr7:44147839 [GRCh38] Chr7:44187438 [GRCh37] Chr7:7p13 |
pathogenic |
NC_000007.14:g.44189508G>A |
single nucleotide variant |
not provided [RCV003329011] |
Chr7:44189508 [GRCh38] Chr7:44229107 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.580-9T>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330050] |
Chr7:44149868 [GRCh38] Chr7:44189467 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.679G>C (p.Gly227Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330054] |
Chr7:44149760 [GRCh38] Chr7:44189359 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1019+20G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330059] |
Chr7:44146443 [GRCh38] Chr7:44186042 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1190_1253+11dup |
duplication |
Maturity onset diabetes mellitus in young [RCV003330060] |
Chr7:44145485..44145486 [GRCh38] Chr7:44185084..44185085 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.679+5G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330055] |
Chr7:44149755 [GRCh38] Chr7:44189354 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.208+15C>G |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330071] |
Chr7:44153286 [GRCh38] Chr7:44192885 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.356C>G (p.Ala119Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330072] |
Chr7:44152278 [GRCh38] Chr7:44191877 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.677T>G (p.Val226Gly) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330053] |
Chr7:44149762 [GRCh38] Chr7:44189361 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.863+5G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330057] |
Chr7:44147645 [GRCh38] Chr7:44187244 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.484-11_484-6del |
deletion |
Maturity onset diabetes mellitus in young [RCV003330074] |
Chr7:44150070..44150075 [GRCh38] Chr7:44189669..44189674 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.484G>A (p.Gly162Ser) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330075] |
Chr7:44150064 [GRCh38] Chr7:44189663 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.667G>C (p.Gly223Arg) |
single nucleotide variant |
not provided [RCV003325674] |
Chr7:44149772 [GRCh38] Chr7:44189371 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330058] |
Chr7:44146463 [GRCh38] Chr7:44186062 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.482A>G (p.Lys161Arg) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003330073] |
Chr7:44150957 [GRCh38] Chr7:44190556 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.950A>C (p.His317Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003333829] |
Chr7:44146532 [GRCh38] Chr7:44186131 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1240A>T (p.Lys414Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003330370] |
Chr7:44145510 [GRCh38] Chr7:44185109 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1322C>A (p.Ser441Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003330366] |
Chr7:44145212 [GRCh38] Chr7:44184811 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003330367] |
Chr7:44145606 [GRCh38] Chr7:44185205 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003331710] |
Chr7:44145576 [GRCh38] Chr7:44185175 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys) |
single nucleotide variant |
Monogenic diabetes [RCV003445233]|not specified [RCV003331711] |
Chr7:44152311 [GRCh38] Chr7:44191910 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1012G>A (p.Val338Met) |
single nucleotide variant |
not specified [RCV003331580] |
Chr7:44146470 [GRCh38] Chr7:44186069 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003445468]|Monogenic diabetes [RCV003479526] |
Chr7:44145617 [GRCh38] Chr7:44185216 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.461T>G (p.Val154Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003481517] |
Chr7:44150978 [GRCh38] Chr7:44190577 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1083dup (p.Thr362fs) |
duplication |
not provided [RCV003482697] |
Chr7:44145666..44145667 [GRCh38] Chr7:44185265..44185266 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.343A>G (p.Met115Val) |
single nucleotide variant |
not provided [RCV003482701] |
Chr7:44152291 [GRCh38] Chr7:44191890 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp) |
single nucleotide variant |
Monogenic diabetes [RCV003445457]|not specified [RCV003479521] |
Chr7:44145203 [GRCh38] Chr7:44184802 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.823C>G (p.Arg275Gly) |
single nucleotide variant |
Monogenic diabetes [RCV003445463]|not specified [RCV003479524] |
Chr7:44147690 [GRCh38] Chr7:44187289 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.797T>C (p.Leu266Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003445465] |
Chr7:44147716 [GRCh38] Chr7:44187315 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del) |
deletion |
Monogenic diabetes [RCV003445461]|not specified [RCV003479522] |
Chr7:44145225..44145236 [GRCh38] Chr7:44184824..44184835 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.503C>A (p.Thr168Asn) |
single nucleotide variant |
Monogenic diabetes [RCV003481516] |
Chr7:44150045 [GRCh38] Chr7:44189644 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.110T>C (p.Met37Thr) |
single nucleotide variant |
Monogenic diabetes [RCV003481518] |
Chr7:44153399 [GRCh38] Chr7:44192998 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Monogenic diabetes [RCV003481519] |
Chr7:44188951 [GRCh38] Chr7:44228550 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.324C>A (p.Tyr108Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003481520] |
Chr7:44152310 [GRCh38] Chr7:44191909 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.170T>A (p.Met57Lys) |
single nucleotide variant |
not provided [RCV003482698] |
Chr7:44153339 [GRCh38] Chr7:44192938 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.557G>A (p.Arg186Gln) |
single nucleotide variant |
not provided [RCV003482704] |
Chr7:44149991 [GRCh38] Chr7:44189590 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.924del (p.Arg308fs) |
deletion |
Monogenic diabetes [RCV003388393] |
Chr7:44146558 [GRCh38] Chr7:44186157 [GRCh37] Chr7:7p13 |
pathogenic |
NC_000007.14:g.44153459_44153467del |
deletion |
not provided [RCV003482703] |
Chr7:44153455..44153463 [GRCh38] Chr7:44193054..44193062 [GRCh37] Chr7:7p13 |
uncertain significance |
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 |
copy number loss |
not provided [RCV003482956] |
Chr7:42516660..46202495 [GRCh37] Chr7:7p14.1-12.3 |
pathogenic |
NM_000162.5(GCK):c.1030_1039del (p.Asp344fs) |
deletion |
Monogenic diabetes [RCV003479790] |
Chr7:44145711..44145720 [GRCh38] Chr7:44185310..44185319 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.109A>G (p.Met37Val) |
single nucleotide variant |
Monogenic diabetes [RCV003445456] |
Chr7:44153400 [GRCh38] Chr7:44192999 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.632T>C (p.Ile211Thr) |
single nucleotide variant |
not provided [RCV003482705] |
Chr7:44149807 [GRCh38] Chr7:44189406 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.666C>A (p.Val222=) |
single nucleotide variant |
not provided [RCV003482706] |
Chr7:44149773 [GRCh38] Chr7:44189372 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.192C>T (p.Ser64=) |
single nucleotide variant |
not provided [RCV003433782] |
Chr7:44153317 [GRCh38] Chr7:44192916 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.350G>T (p.Gly117Val) |
single nucleotide variant |
Monogenic diabetes [RCV003445236]|not provided [RCV003441593]|not specified [RCV003479519] |
Chr7:44152284 [GRCh38] Chr7:44191883 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.219C>G (p.Asp73Glu) |
single nucleotide variant |
GCK-related condition [RCV003394466] |
Chr7:44152415 [GRCh38] Chr7:44192014 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.227C>A (p.Ser76Tyr) |
single nucleotide variant |
not provided [RCV003482699] |
Chr7:44152407 [GRCh38] Chr7:44192006 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.28G>A (p.Ala10Thr) |
single nucleotide variant |
not provided [RCV003482700] |
Chr7:44188926 [GRCh38] Chr7:44228525 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.679+3A>C |
single nucleotide variant |
not provided [RCV003482707] |
Chr7:44149757 [GRCh38] Chr7:44189356 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.741C>G (p.Asp247Glu) |
single nucleotide variant |
not provided [RCV003482708] |
Chr7:44147772 [GRCh38] Chr7:44187371 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.964G>T (p.Glu322Ter) |
single nucleotide variant |
not provided [RCV003482709] |
Chr7:44146518 [GRCh38] Chr7:44186117 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.465G>T (p.Arg155Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003397219] |
Chr7:44150974 [GRCh38] Chr7:44190573 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003397220] |
Chr7:44145618 [GRCh38] Chr7:44185217 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.689G>A (p.Cys230Tyr) |
single nucleotide variant |
Monogenic diabetes [RCV003397221] |
Chr7:44147824 [GRCh38] Chr7:44187423 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1019+1G>T |
single nucleotide variant |
Monogenic diabetes [RCV003445459] |
Chr7:44146462 [GRCh38] Chr7:44186061 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1019+5G>A |
single nucleotide variant |
Monogenic diabetes [RCV003445460] |
Chr7:44146458 [GRCh38] Chr7:44186057 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.3(GCK):c.-557G>C |
single nucleotide variant |
GCK-related condition [RCV003392982] |
Chr7:44189510 [GRCh38] Chr7:44229109 [GRCh37] Chr7:7p13 |
pathogenic|likely pathogenic |
NM_000162.5(GCK):c.1305dup (p.Ile436fs) |
duplication |
Maturity-onset diabetes of the young type 2 [RCV003397215] |
Chr7:44145228..44145229 [GRCh38] Chr7:44184827..44184828 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1014G>A (p.Val338=) |
single nucleotide variant |
GCK-related condition [RCV003408321] |
Chr7:44146468 [GRCh38] Chr7:44186067 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.373T>A (p.Tyr125Asn) |
single nucleotide variant |
GCK-related condition [RCV003400047] |
Chr7:44151066 [GRCh38] Chr7:44190665 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.364-1G>C |
single nucleotide variant |
GCK-related condition [RCV003400068] |
Chr7:44151076 [GRCh38] Chr7:44190675 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.679+1G>C |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003388272] |
Chr7:44149759 [GRCh38] Chr7:44189358 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter) |
duplication |
Maturity-onset diabetes of the young type 2 [RCV003397216] |
Chr7:44145233..44145234 [GRCh38] Chr7:44184832..44184833 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1254-2A>G |
single nucleotide variant |
Monogenic diabetes [RCV003397217] |
Chr7:44145282 [GRCh38] Chr7:44184881 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.443T>C (p.Phe148Ser) |
single nucleotide variant |
Monogenic diabetes [RCV003397218] |
Chr7:44150996 [GRCh38] Chr7:44190595 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.46-4647C>A |
single nucleotide variant |
GCK-related condition [RCV003412371] |
Chr7:44158110 [GRCh38] Chr7:44197709 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.554T>C (p.Leu185Pro) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003447825] |
Chr7:44149994 [GRCh38] Chr7:44189593 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1106G>C (p.Arg369Pro) |
single nucleotide variant |
GCK-related condition [RCV003416862] |
Chr7:44145644 [GRCh38] Chr7:44185243 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.565A>G (p.Ile189Val) |
single nucleotide variant |
Monogenic diabetes [RCV003445466]|not specified [RCV003479525] |
Chr7:44149983 [GRCh38] Chr7:44189582 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.529_536del (p.Glu177fs) |
deletion |
not provided [RCV003441624] |
Chr7:44150012..44150019 [GRCh38] Chr7:44189611..44189618 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.53del (p.Gln18fs) |
deletion |
Monogenic diabetes [RCV003388354] |
Chr7:44153456 [GRCh38] Chr7:44193055 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.859C>G (p.Gln287Glu) |
single nucleotide variant |
GCK-related condition [RCV003408314] |
Chr7:44147654 [GRCh38] Chr7:44187253 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1019+1G>A |
single nucleotide variant |
Monogenic diabetes [RCV003445458] |
Chr7:44146462 [GRCh38] Chr7:44186061 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.567C>G (p.Ile189Met) |
single nucleotide variant |
Monogenic diabetes [RCV003445462]|not specified [RCV003479523] |
Chr7:44149981 [GRCh38] Chr7:44189580 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.976A>C (p.Thr326Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003445464] |
Chr7:44146506 [GRCh38] Chr7:44186105 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.797T>A (p.Leu266Gln) |
single nucleotide variant |
Monogenic diabetes [RCV003445467] |
Chr7:44147716 [GRCh38] Chr7:44187315 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter) |
single nucleotide variant |
Monogenic diabetes [RCV003883452] |
Chr7:44145176 [GRCh38] Chr7:44184775 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.683C>G (p.Thr228Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003883456] |
Chr7:44147830 [GRCh38] Chr7:44187429 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.389T>A (p.Ile130Asn) |
single nucleotide variant |
Monogenic diabetes [RCV003883458] |
Chr7:44151050 [GRCh38] Chr7:44190649 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
Monogenic diabetes [RCV003883453] |
Chr7:44145591 [GRCh38] Chr7:44185190 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp) |
single nucleotide variant |
Monogenic diabetes [RCV003883454] |
Chr7:44145602 [GRCh38] Chr7:44185201 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr) |
single nucleotide variant |
Monogenic diabetes [RCV003883455] |
Chr7:44145603 [GRCh38] Chr7:44185202 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1398A>T (p.Ter466Cys) |
single nucleotide variant |
Monogenic diabetes [RCV003494020] |
Chr7:44145136 [GRCh38] Chr7:44184735 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.749G>C (p.Arg250Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003494027] |
Chr7:44147764 [GRCh38] Chr7:44187363 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.679+3A>T |
single nucleotide variant |
Monogenic diabetes [RCV003494028] |
Chr7:44149757 [GRCh38] Chr7:44189356 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.676G>C (p.Val226Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003494029] |
Chr7:44149763 [GRCh38] Chr7:44189362 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1144del (p.Cys382fs) |
deletion |
Monogenic diabetes [RCV003494022] |
Chr7:44145606 [GRCh38] Chr7:44185205 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.630G>A (p.Met210Ile) |
single nucleotide variant |
Monogenic diabetes [RCV003494023] |
Chr7:44149809 [GRCh38] Chr7:44189408 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.521C>T (p.Ser174Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003494026] |
Chr7:44150027 [GRCh38] Chr7:44189626 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1004T>A (p.Val335Glu) |
single nucleotide variant |
not provided [RCV003547805] |
Chr7:44146478 [GRCh38] Chr7:44186077 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.110T>A (p.Met37Lys) |
single nucleotide variant |
Monogenic diabetes [RCV003494030] |
Chr7:44153399 [GRCh38] Chr7:44192998 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.323A>T (p.Tyr108Phe) |
single nucleotide variant |
Monogenic diabetes [RCV003494031] |
Chr7:44152311 [GRCh38] Chr7:44191910 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.586G>T (p.Glu196Ter) |
single nucleotide variant |
not provided [RCV003716136] |
Chr7:44149853 [GRCh38] Chr7:44189452 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.683C>A (p.Thr228Lys) |
single nucleotide variant |
Monogenic diabetes [RCV003883457] |
Chr7:44147830 [GRCh38] Chr7:44187429 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.523G>C (p.Gly175Arg) |
single nucleotide variant |
Monogenic diabetes [RCV003883459] |
Chr7:44150025 [GRCh38] Chr7:44189624 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.-429G>A |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003577090] |
Chr7:44189382 [GRCh38] Chr7:44228981 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu) |
single nucleotide variant |
Maturity onset diabetes mellitus in young [RCV003577094] |
Chr7:44145671 [GRCh38] Chr7:44185270 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.659G>T (p.Cys220Phe) |
single nucleotide variant |
Monogenic diabetes [RCV003494032] |
Chr7:44149780 [GRCh38] Chr7:44189379 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe) |
single nucleotide variant |
Monogenic diabetes [RCV003494021] |
Chr7:44145228 [GRCh38] Chr7:44184827 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.622G>C (p.Ala208Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003494024] |
Chr7:44149817 [GRCh38] Chr7:44189416 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1219G>C (p.Gly407Arg) |
single nucleotide variant |
not provided [RCV003577301] |
Chr7:44145531 [GRCh38] Chr7:44185130 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.113A>T (p.Gln38Leu) |
single nucleotide variant |
Monogenic diabetes [RCV003494025] |
Chr7:44153396 [GRCh38] Chr7:44192995 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.352A>T (p.Thr118Ser) |
single nucleotide variant |
not provided [RCV003715883] |
Chr7:44152282 [GRCh38] Chr7:44191881 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.30C>T (p.Ala10=) |
single nucleotide variant |
not specified [RCV003489725] |
Chr7:44188924 [GRCh38] Chr7:44228523 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.430C>G (p.Leu144Val) |
single nucleotide variant |
not provided [RCV003575875] |
Chr7:44151009 [GRCh38] Chr7:44190608 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.379T>G (p.Ser127Ala) |
single nucleotide variant |
not provided [RCV003575387] |
Chr7:44151060 [GRCh38] Chr7:44190659 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.476T>C (p.Ile159Thr) |
single nucleotide variant |
not provided [RCV003547122] |
Chr7:44150963 [GRCh38] Chr7:44190562 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1124C>A (p.Ser375Tyr) |
single nucleotide variant |
not provided [RCV003573794] |
Chr7:44145626 [GRCh38] Chr7:44185225 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.1254-13C>A |
single nucleotide variant |
Monogenic diabetes [RCV003883451] |
Chr7:44145293 [GRCh38] Chr7:44184892 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.449_451del (p.Phe150del) |
deletion |
Monogenic diabetes [RCV003883460] |
Chr7:44150988..44150990 [GRCh38] Chr7:44190587..44190589 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys) |
single nucleotide variant |
not provided [RCV003555325] |
Chr7:44145561 [GRCh38] Chr7:44185160 [GRCh37] Chr7:7p13 |
likely pathogenic|uncertain significance |
NM_000162.5(GCK):c.363+19G>A |
single nucleotide variant |
not provided [RCV003877582] |
Chr7:44152252 [GRCh38] Chr7:44191851 [GRCh37] Chr7:7p13 |
benign |
NM_000162.5(GCK):c.375C>T (p.Tyr125=) |
single nucleotide variant |
not provided [RCV003715881] |
Chr7:44151064 [GRCh38] Chr7:44190663 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.188G>A (p.Arg63His) |
single nucleotide variant |
not provided [RCV003665331] |
Chr7:44153321 [GRCh38] Chr7:44192920 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.675C>A (p.Ile225=) |
single nucleotide variant |
not provided [RCV003697825] |
Chr7:44149764 [GRCh38] Chr7:44189363 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.852dup (p.Gly285fs) |
duplication |
not provided [RCV003740618] |
Chr7:44147660..44147661 [GRCh38] Chr7:44187259..44187260 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.1327G>A (p.Glu443Lys) |
single nucleotide variant |
not provided [RCV003549568] |
Chr7:44145207 [GRCh38] Chr7:44184806 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.698_700del (p.Cys233del) |
deletion |
not provided [RCV003549749] |
Chr7:44147813..44147815 [GRCh38] Chr7:44187412..44187414 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.799G>C (p.Asp267His) |
single nucleotide variant |
Maturity-onset diabetes of the young type 2 [RCV003634411] |
Chr7:44147714 [GRCh38] Chr7:44187313 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro) |
indel |
not provided [RCV003740508] |
Chr7:44151007..44151008 [GRCh38] Chr7:44190606..44190607 [GRCh37] Chr7:7p13 |
uncertain significance |
NM_000162.5(GCK):c.432G>T (p.Leu144=) |
single nucleotide variant |
not provided [RCV003740627] |
Chr7:44151007 [GRCh38] Chr7:44190606 [GRCh37] Chr7:7p13 |
likely benign |
NM_000162.5(GCK):c.1254-12_1257del |
deletion |
Monogenic diabetes [RCV003330371] |
Chr7:44145277..44145292 [GRCh38] Chr7:44184876..44184891 [GRCh37] Chr7:7p13 |
pathogenic |
NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs) |
microsatellite |
Maturity-onset diabetes of the young type 2 [RCV003330369] |
Chr7:44145227..44145228 [GRCh38] Chr7:44184826..44184827 [GRCh37] Chr7:7p13 |
likely pathogenic |
NM_000162.5(GCK):c.824G>C (p.Arg275Pro) |
single nucleotide variant |
Monogenic diabetes [RCV003330368] |
Chr7:44147689 [GRCh38] Chr7:44187288 [GRCh37] Chr7:7p13 |
likely pathogenic |