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185 records found for search term Gcg
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15171242CV730065single nucleotide variantNM_002054.5(GCG):c.254+5G>Anot provided [RCV000883617]benign2162147348162147348Humanname
156263192CV2329349single nucleotide variantNM_002054.5(GCG):c.62G>T (p.Arg21Leu)not specified [RCV004187367]uncertain significance2162149117162149117Humanname
8629910CV85057single nucleotide variantNM_002054.4(GCG):c.209G>A (p.Arg70His)Malignant melanoma [RCV000065139]not provided2162147398162147398Humanname
597758106CV3677971single nucleotide variantNM_002054.5(GCG):c.529A>G (p.Thr177Ala)not specified [RCV004925217]uncertain significance2162144034162144034Humanname
15098174CV719351single nucleotide variantNM_002054.5(GCG):c.472A>G (p.Ile158Val)not provided [RCV000891673]benign2162144091162144091Humanname
11635868CV291486insertionNM_001349338.3(FOXP1):c.*3414GT[2]GCG[1]Intellectual Disability with Language Impairment and Autistic Features [RCV000407646]uncertain significance37095583270955833Human1name
151877571CV1460209single nucleotide variantNM_000160.5(GCGR):c.61-3C>Anot provided [RCV002036444]uncertain significance178180977981809779Humanname
152152639CV1565357single nucleotide variantNM_000160.5(GCGR):c.61-9G>Anot provided [RCV002102465]benign178180977381809773Humanname
15181819CV745139single nucleotide variantNM_000160.5(GCGR):c.60+8C>Tnot provided [RCV000907672]likely benign178180908681809086Humanname
126910239CV1053030single nucleotide variantNM_000160.5(GCGR):c.879-1G>AGCGR-related hyperglucagonemia [RCV001374860]pathogenic178181218281812182Human1name , trait
152173563CV1539627single nucleotide variantNM_000160.5(GCGR):c.879-5C>Tnot provided [RCV002162852]likely benign178181217881812178Humanname
152109025CV1556396single nucleotide variantNM_000160.5(GCGR):c.818-5C>Gnot provided [RCV002096588]likely benign178181188181811881Humanname
156385293CV2128388single nucleotide variantNM_000160.5(GCGR):c.657+9C>Tnot provided [RCV002943440]likely benign178181156981811569Humanname
156030784CV2142005deletionNM_000160.5(GCGR):c.817+9delnot provided [RCV002976594]likely benign178181181781811817Humanname
405239761CV2980001single nucleotide variantNM_000160.5(GCGR):c.817+6T>Cnot provided [RCV003683801]uncertain significance178181181681811816Humanname
405275877CV3216039single nucleotide variantNM_000160.5(GCGR):c.879-4G>AGCGR-related disorder [RCV003952301]likely benign178181217981812179Humanname , trait , alternate_id
597919355CV3737952single nucleotide variantNM_000160.5(GCGR):c.164-3C>Anot provided [RCV005074551]uncertain significance178181082281810822Humanname
152060477CV1532894single nucleotide variantNM_000160.5(GCGR):c.657+16C>Tnot provided [RCV002208595]likely benign178181157681811576Humanname
152031808CV1571936single nucleotide variantNM_000160.5(GCGR):c.658-10C>Tnot provided [RCV002186775]likely benign178181164181811641Humanname
152090143CV1580777deletionNM_000160.5(GCGR):c.163+11delnot provided [RCV002094055]benign178180989081809890Humanname
152093643CV1584923single nucleotide variantNM_000160.5(GCGR):c.393+10C>Anot provided [RCV002114412]benign178181114181811141Humanname
152063962CV1587960single nucleotide variantNM_000160.5(GCGR):c.657+17G>Anot provided [RCV002090623]benign178181157781811577Humanname
152163267CV1600794single nucleotide variantNM_000160.5(GCGR):c.878+12C>Tnot provided [RCV002141294]benign178181195881811958Humanname
152065161CV1652515single nucleotide variantNM_000160.5(GCGR):c.1219-5C>Tnot provided [RCV002090799]benign178181346981813469Humanname
152172914CV1652792single nucleotide variantNM_000160.5(GCGR):c.949-18C>Tnot provided [RCV002143935]benign178181255981812559Humanname
152093226CV1665561single nucleotide variantNM_000160.5(GCGR):c.393+10C>Tnot provided [RCV002194569]likely benign178181114181811141Humanname
156375793CV1868713single nucleotide variantNM_000160.5(GCGR):c.1219-6C>Anot provided [RCV003066708]benign178181346881813468Humanname
156411011CV1892844single nucleotide variantNM_000160.5(GCGR):c.657+10C>TGCGR-related disorder [RCV003943758]|not provided [RCV003072298]likely benign178181157081811570Human1name , trait , alternate_id
156157135CV1906621single nucleotide variantNM_000160.5(GCGR):c.1218+8G>Anot provided [RCV003082750]benign178181306581813065Humanname
156409227CV1965170single nucleotide variantNM_000160.5(GCGR):c.878+13G>Anot provided [RCV002586757]likely benign178181195981811959Humanname
156352760CV1965582single nucleotide variantNM_000160.5(GCGR):c.657+15G>Anot provided [RCV002581178]likely benign178181157581811575Humanname
156153646CV2121691single nucleotide variantNM_000160.5(GCGR):c.1037+9C>Tnot provided [RCV002928986]likely benign178181267481812674Humanname
405211587CV3117788single nucleotide variantNM_000160.5(GCGR):c.500+20C>Tnot provided [RCV003823387]likely benign178181134881811348Humanname
405176641CV3119275single nucleotide variantNM_000160.5(GCGR):c.878+15C>Anot provided [RCV003819560]likely benign178181196181811961Humanname
405003436CV3120661single nucleotide variantNM_000160.5(GCGR):c.163+19G>Anot provided [RCV003828263]likely benign178180990381809903Humanname
405086362CV3137678single nucleotide variantNM_000160.5(GCGR):c.272-11C>Gnot provided [RCV003834387]likely benign178181099981810999Humanname
597966460CV3859115single nucleotide variantNM_000160.5(GCGR):c.500+10C>Tnot provided [RCV005194510]likely benign178181133881811338Humanname
152142584CV1526695single nucleotide variantNM_000160.5(GCGR):c.1176+15G>Anot provided [RCV002084360]benign178181296081812960Humanname
156141698CV1959740single nucleotide variantNM_000160.5(GCGR):c.1176+17C>Tnot provided [RCV002572595]benign178181296281812962Humanname
156286257CV1964603single nucleotide variantNM_000160.5(GCGR):c.1176+11G>Anot provided [RCV002577649]likely benign178181295681812956Humanname
156123889CV1992819single nucleotide variantNM_000160.5(GCGR):c.1037+10G>Anot provided [RCV002623050]likely benign178181267581812675Humanname
155910606CV2041270single nucleotide variantNM_000160.5(GCGR):c.1176+10C>Tnot provided [RCV002771554]likely benign178181295581812955Humanname
405023324CV2877544single nucleotide variantNM_000160.5(GCGR):c.1038-19T>Cnot provided [RCV003577735]likely benign178181278881812788Humanname
405088041CV3133993single nucleotide variantNM_000160.5(GCGR):c.1176+18G>Anot provided [RCV003834531]likely benign178181296381812963Humanname
597944517CV3793745single nucleotide variantNM_000160.5(GCGR):c.1177-13C>Tnot provided [RCV005134385]likely benign178181300381813003Humanname
617153835CV4022146deletionNM_000160.5(GCGR):c.1176+1_1176+7delGCGR-related hyperglucagonemia [RCV005429206]likely pathogenic178181294581812951Human1name , trait
150464794CV1268498microsatelliteNM_001040167.2(LFNG):c.*126_*130GT[2]GCGTGTGTG[1]not provided [RCV001694194]benign725273372527338Humanname
126910236CV1053026variationGCGR, ARG8TERGCGR-related hyperglucagonemia [RCV001374857]pathogenicHumanname , trait
126910237CV1053027variationGCGR, GLN327TERGCGR-related hyperglucagonemia [RCV001374858]pathogenicHumanname , trait
126910233CV1053025insertionGCGR, 1-BP INS, EX4GCGR-related hyperglucagonemia [RCV001374856]pathogenicHuman1name , trait
152105084CV1633986single nucleotide variantNM_000160.5(GCGR):c.465C>G (p.Ala155=)GCGR-related disorder [RCV003971173]|not provided [RCV002196044]benign178181129381811293Human1name , trait , alternate_id
152122853CV1664310single nucleotide variantNM_000160.5(GCGR):c.1095C>T (p.Phe365=)GCGR-related disorder [RCV003978873]|not provided [RCV002154483]benign178181286481812864Human1name , trait , alternate_id
156343201CV2099742single nucleotide variantNM_000160.5(GCGR):c.1382C>T (p.Ala461Val)GCGR-related disorder [RCV003961180]|not provided [RCV002900596]benign|likely benign178181363781813637Human1name , trait , alternate_id
156353887CV2118947single nucleotide variantNM_000160.5(GCGR):c.783G>A (p.Arg261=)GCGR-related disorder [RCV003961289]|not provided [RCV002966508]benign178181177681811776Human1name , trait , alternate_id
405204900CV2858695single nucleotide variantNM_000160.5(GCGR):c.474C>T (p.Leu158=)GCGR-related disorder [RCV003966457]|not provided [RCV003551816]likely benign178181130281811302Human1name , trait , alternate_id
405208321CV3065393single nucleotide variantNM_000160.5(GCGR):c.309C>T (p.Asp103=)GCGR-related disorder [RCV003929328]|not provided [RCV003731633]likely benign178181104781811047Human1name , trait , alternate_id
405279918CV3191538single nucleotide variantNM_000160.5(GCGR):c.1323C>T (p.His441=)GCGR-related disorder [RCV003919689]likely benign178181357881813578Humanname , trait , alternate_id
405270670CV3212069single nucleotide variantNM_000160.5(GCGR):c.144C>T (p.Ser48=)GCGR-related disorder [RCV003949449]likely benign178180986581809865Humanname , trait , alternate_id
156283259CV1964472single nucleotide variantNM_000160.5(GCGR):c.45G>A (p.Leu15=)not provided [RCV002577547]likely benign178180906381809063Humanname
155975738CV2088911single nucleotide variantNM_000160.5(GCGR):c.46C>T (p.Leu16=)not provided [RCV002863522]likely benign178180906481809064Humanname
156283044CV2360538single nucleotide variantNM_000160.5(GCGR):c.8C>T (p.Pro3Leu)not specified [RCV004211298]uncertain significance178180902681809026Humanname
597852726CV3737671single nucleotide variantNM_000160.5(GCGR):c.28C>T (p.Leu10=)not provided [RCV005066444]likely benign178180904681809046Humanname
156408479CV1870075single nucleotide variantNM_000160.5(GCGR):c.186C>T (p.Phe62=)not provided [RCV003071283]benign178181084781810847Humanname
405157309CV3065092single nucleotide variantNM_000160.5(GCGR):c.14A>C (p.Gln5Pro)not provided [RCV003726851]uncertain significance178180903281809032Humanname
402472461CV3171793single nucleotide variantNM_000160.5(GCGR):c.243C>T (p.Cys81=)not provided [RCV003874577]likely benign178181090481810904Humanname
597961698CV3840710single nucleotide variantNM_000160.5(GCGR):c.117C>T (p.Tyr39=)not provided [RCV005193003]likely benign178180983881809838Humanname
152124526CV1629972single nucleotide variantNM_000160.5(GCGR):c.810C>T (p.Ile270=)not provided [RCV002154691]benign|likely benign178181180381811803Humanname
156393687CV1876209single nucleotide variantNM_000160.5(GCGR):c.684G>A (p.Ala228=)not provided [RCV003068326]benign178181167781811677Humanname
156393413CV1933929single nucleotide variantNM_000160.5(GCGR):c.624C>T (p.Asp208=)not provided [RCV002654613]likely benign178181152781811527Humanname
156170526CV1968288single nucleotide variantNM_000160.5(GCGR):c.570C>T (p.Ser190=)not provided [RCV002594756]likely benign178181147381811473Humanname
156203255CV2004289single nucleotide variantNM_000160.5(GCGR):c.756G>A (p.Leu252=)not provided [RCV002666571]likely benign178181174981811749Humanname
156003280CV2103465single nucleotide variantNM_000160.5(GCGR):c.534G>C (p.Ala178=)not provided [RCV002908736]likely benign178181143781811437Humanname
156136973CV2113385single nucleotide variantNM_000160.5(GCGR):c.487C>T (p.Leu163=)not provided [RCV002928413]benign178181131581811315Humanname
155907117CV2276224single nucleotide variantNM_000160.5(GCGR):c.53C>A (p.Ala18Asp)not specified [RCV004142171]uncertain significance178180907181809071Humanname
405653449CV2750413deletionNM_000160.5(GCGR):c.247del (p.Trp83fs)GCGR-related hyperglucagonemia [RCV003994539]pathogenic178181090881810908Human1name , trait
405216119CV2876279single nucleotide variantNM_000160.5(GCGR):c.987C>T (p.Leu329=)not provided [RCV003553217]likely benign178181261581812615Humanname
405246742CV2966436single nucleotide variantNM_000160.5(GCGR):c.882C>T (p.Cys294=)not provided [RCV003685498]likely benign178181218681812186Humanname
405189633CV3069699single nucleotide variantNM_000160.5(GCGR):c.606C>T (p.Tyr202=)not provided [RCV003729600]likely benign178181150981811509Humanname
405038999CV3140954single nucleotide variantNM_000160.5(GCGR):c.492G>A (p.Gly164=)not provided [RCV003831247]likely benign178181132081811320Humanname
407512222CV3432784single nucleotide variantNM_000160.5(GCGR):c.879G>A (p.Gln293=)not specified [RCV004626720]likely benign178181218381812183Humanname
597890653CV3749313single nucleotide variantNM_000160.5(GCGR):c.954C>T (p.Asn318=)not provided [RCV005071097]likely benign178181258281812582Humanname
597887331CV3804281single nucleotide variantNM_000160.5(GCGR):c.375C>T (p.Gly125=)not provided [RCV005150732]uncertain significance178181111381811113Humanname
597958344CV3849103single nucleotide variantNM_000160.5(GCGR):c.570C>G (p.Ser190=)not provided [RCV005192104]likely benign178181147381811473Humanname
15103352CV704474single nucleotide variantNM_000160.5(GCGR):c.735G>A (p.Glu245=)not provided [RCV000959462]benign178181172881811728Humanname
15173762CV704475single nucleotide variantNM_000160.5(GCGR):c.834C>T (p.Phe278=)not provided [RCV000950269]benign178181190281811902Humanname
15101954CV704476single nucleotide variantNM_000160.5(GCGR):c.969C>T (p.Val323=)not provided [RCV000959195]benign178181259781812597Humanname
15176304CV715831single nucleotide variantNM_000160.5(GCGR):c.777C>T (p.Pro259=)not provided [RCV000973156]likely benign178181177081811770Humanname
126910232CV1053024single nucleotide variantNM_000160.5(GCGR):c.256C>T (p.Pro86Ser)GCGR-related hyperglucagonemia [RCV001374855]pathogenic178181091781810917Human1name , trait
126910240CV1053031single nucleotide variantNM_000160.5(GCGR):c.187G>A (p.Asp63Asn)GCGR-related hyperglucagonemia [RCV001374861]|not provided [RCV003727990]pathogenic|uncertain significance178181084881810848Human1name , trait
151776184CV1463814single nucleotide variantNM_000160.5(GCGR):c.289T>C (p.Phe97Leu)not provided [RCV001896814]uncertain significance178181102781811027Humanname
152060159CV1559153single nucleotide variantNM_000160.5(GCGR):c.227C>T (p.Thr76Met)not provided [RCV002167904]|not specified [RCV004045034]likely benign|uncertain significance178181088881810888Humanname
152137263CV1608979single nucleotide variantNM_000160.5(GCGR):c.1116C>T (p.His372=)not provided [RCV002119873]likely benign178181288581812885Humanname
156404229CV1898168single nucleotide variantNM_000160.5(GCGR):c.1137C>T (p.Ser379=)not provided [RCV002585360]likely benign178181290681812906Humanname
155930546CV1908981single nucleotide variantNM_000160.5(GCGR):c.1107G>A (p.Thr369=)not provided [RCV002614971]likely benign178181287681812876Humanname
156257776CV1957141single nucleotide variantNM_000160.5(GCGR):c.1077C>T (p.Gly359=)not provided [RCV002576742]uncertain significance178181284681812846Humanname
156407894CV1957642single nucleotide variantNM_000160.5(GCGR):c.286G>A (p.Val96Met)not provided [RCV002586356]uncertain significance178181102481811024Humanname
156097527CV2012948single nucleotide variantNM_000160.5(GCGR):c.1320C>T (p.Gly440=)not provided [RCV002706542]likely benign178181357581813575Humanname
156231789CV2048740single nucleotide variantNM_000160.5(GCGR):c.217G>A (p.Ala73Thr)not provided [RCV002791024]uncertain significance178181087881810878Humanname
156312363CV2143755single nucleotide variantNM_000160.5(GCGR):c.280C>T (p.Arg94Cys)not provided [RCV003011188]uncertain significance178181101881811018Humanname
156273335CV2320178single nucleotide variantNM_000160.5(GCGR):c.235A>G (p.Ile79Val)not specified [RCV004169802]uncertain significance178181089681810896Humanname
156049350CV2370808single nucleotide variantNM_000160.5(GCGR):c.161C>T (p.Thr54Met)not specified [RCV004209202]uncertain significance178180988281809882Humanname
156032654CV2376513single nucleotide variantNM_000160.5(GCGR):c.262C>A (p.His88Asn)not specified [RCV004220685]uncertain significance178181092381810923Humanname
329401094CV2446116single nucleotide variantNM_000160.5(GCGR):c.214C>G (p.Pro72Ala)not specified [RCV004270668]uncertain significance178181087581810875Humanname
405653455CV2750414deletionNM_000160.5(GCGR):c.463del (p.Ala155fs)GCGR-related hyperglucagonemia [RCV003994540]pathogenic178181128781811287Human1name , trait
405239638CV2882509single nucleotide variantNM_000160.5(GCGR):c.154C>A (p.Pro52Thr)not provided [RCV003557116]uncertain significance178180987581809875Humanname
405129148CV3054319single nucleotide variantNM_000160.5(GCGR):c.1317C>T (p.Pro439=)not provided [RCV003724578]likely benign178181357281813572Humanname
405199505CV3056675single nucleotide variantNM_000160.5(GCGR):c.1149C>T (p.Phe383=)not provided [RCV003730636]likely benign178181291881812918Humanname
8600091CV31198single nucleotide variantNM_000160.5(GCGR):c.118G>A (p.Gly40Ser)Type 2 diabetes mellitus [RCV000017542]|not provided [RCV000950476]pathogenic|benign|likely benign178180983981809839Human3name
405218557CV3143863single nucleotide variantNM_000160.5(GCGR):c.245C>T (p.Pro82Leu)not provided [RCV003846833]uncertain significance178181090681810906Humanname
597945221CV3776808single nucleotide variantNM_000160.5(GCGR):c.206C>T (p.Pro69Leu)not provided [RCV005119664]uncertain significance178181086781810867Humanname
597884078CV3780534single nucleotide variantNM_000160.5(GCGR):c.279C>A (p.His93Gln)not provided [RCV005124662]uncertain significance178181101781811017Humanname
598218386CV3970457single nucleotide variantNM_000160.5(GCGR):c.227C>A (p.Thr76Lys)not specified [RCV005340145]uncertain significance178181088881810888Humanname
15150112CV741212single nucleotide variantNM_000160.5(GCGR):c.1251C>T (p.Arg417=)not provided [RCV000901080]benign178181350681813506Humanname
15106666CV785811single nucleotide variantNM_000160.5(GCGR):c.1326C>G (p.Gly442=)not provided [RCV000976672]benign178181358181813581Humanname
151748576CV1053028single nucleotide variantNM_000160.5(GCGR):c.674G>A (p.Arg225His)not provided [RCV001871965]uncertain significance178181166781811667Humanname
151809608CV1338821single nucleotide variantNM_000160.5(GCGR):c.307G>A (p.Asp103Asn)not provided [RCV002012307]uncertain significance178181104581811045Humanname
151830322CV1343439single nucleotide variantNM_000160.5(GCGR):c.860G>A (p.Cys287Tyr)not provided [RCV001920428]uncertain significance178181192881811928Humanname
151862272CV1365058single nucleotide variantNM_000160.5(GCGR):c.376G>A (p.Glu126Lys)not provided [RCV002017900]uncertain significance178181111481811114Humanname
151805532CV1427155single nucleotide variantNM_000160.5(GCGR):c.437C>T (p.Thr146Ile)not provided [RCV001899463]uncertain significance178181126581811265Humanname
151734406CV1453028single nucleotide variantNM_000160.5(GCGR):c.384T>G (p.Ile128Met)not provided [RCV002041538]uncertain significance178181112281811122Humanname
152112202CV1550639single nucleotide variantNM_000160.5(GCGR):c.340C>G (p.Pro114Ala)not provided [RCV002153198]benign178181107881811078Humanname
156437051CV1936880single nucleotide variantNM_000160.5(GCGR):c.912G>A (p.Trp304Ter)not provided [RCV003106580]uncertain significance178181221681812216Humanname
156410798CV1958530single nucleotide variantNM_000160.5(GCGR):c.760G>C (p.Gly254Arg)not provided [RCV002587271]uncertain significance178181175381811753Humanname
155922039CV1991371single nucleotide variantNM_000160.5(GCGR):c.571G>A (p.Val191Met)not provided [RCV002614605]uncertain significance178181147481811474Humanname
155995782CV2034940single nucleotide variantNM_000160.5(GCGR):c.735G>C (p.Glu245Asp)not provided [RCV002755953]uncertain significance178181172881811728Humanname
156236363CV2193471single nucleotide variantNM_000160.5(GCGR):c.553G>A (p.Val185Met)not specified [RCV004072958]uncertain significance178181145681811456Humanname
156171034CV2197965single nucleotide variantNM_000160.5(GCGR):c.585T>G (p.Asp195Glu)not specified [RCV004077176]uncertain significance178181148881811488Humanname
155917810CV2199125single nucleotide variantNM_000160.5(GCGR):c.421T>C (p.Phe141Leu)not specified [RCV004080521]uncertain significance178181124981811249Humanname
156086405CV2241235single nucleotide variantNM_000160.5(GCGR):c.372T>G (p.Asp124Glu)not specified [RCV004102393]uncertain significance178181111081811110Humanname
156158810CV2262515single nucleotide variantNM_000160.5(GCGR):c.895G>A (p.Asp299Asn)not specified [RCV004128944]uncertain significance178181219981812199Humanname
156044086CV2268499single nucleotide variantNM_000160.5(GCGR):c.335G>A (p.Gly112Glu)not specified [RCV004130188]uncertain significance178181107381811073Humanname
156024664CV2273893single nucleotide variantNM_000160.5(GCGR):c.602G>C (p.Arg201Pro)not specified [RCV004132515]uncertain significance178181150581811505Humanname
156179858CV2331414single nucleotide variantNM_000160.5(GCGR):c.753C>A (p.Asn251Lys)not specified [RCV004184050]uncertain significance178181174681811746Humanname
156348159CV2375651single nucleotide variantNM_000160.5(GCGR):c.515C>T (p.Thr172Ile)not specified [RCV004226128]uncertain significance178181141881811418Humanname
156154698CV2388733single nucleotide variantNM_000160.5(GCGR):c.319G>T (p.Val107Leu)not specified [RCV004239601]uncertain significance178181105781811057Humanname
243052531CV2412589single nucleotide variantNM_000160.5(GCGR):c.701G>A (p.Gly234Asp)GCGR-related hyperglucagonemia [RCV003131002]uncertain significance178181169481811694Human1name , trait
401779017CV2702031single nucleotide variantNM_000160.5(GCGR):c.818G>T (p.Gly273Val)not specified [RCV004320615]uncertain significance178181188681811886Humanname
401735598CV2702819single nucleotide variantNM_000160.5(GCGR):c.778G>A (p.Glu260Lys)not specified [RCV004319378]uncertain significance178181177181811771Humanname
405202774CV2861574single nucleotide variantNM_000160.5(GCGR):c.535A>C (p.Asn179His)not provided [RCV003551557]uncertain significance178181143881811438Humanname
405135253CV2896841single nucleotide variantNM_000160.5(GCGR):c.400G>A (p.Val134Met)not provided [RCV003560365]uncertain significance178181122881811228Humanname
405165127CV2960719single nucleotide variantNM_000160.5(GCGR):c.332G>A (p.Arg111Gln)not provided [RCV003674972]uncertain significance178181107081811070Humanname
405246216CV3051713single nucleotide variantNM_000160.5(GCGR):c.970C>T (p.Arg324Cys)not provided [RCV003720417]|not specified [RCV005335867]uncertain significance178181259881812598Humanname
405243594CV3053853single nucleotide variantNM_000160.5(GCGR):c.838G>A (p.Val280Ile)not provided [RCV003719772]uncertain significance178181190681811906Humanname
405038454CV3067706single nucleotide variantNM_000160.5(GCGR):c.923G>A (p.Arg308Gln)not provided [RCV003739724]uncertain significance178181222781812227Humanname
405065104CV3139756single nucleotide variantNM_000160.5(GCGR):c.988G>A (p.Val330Met)not provided [RCV003833103]uncertain significance178181261681812616Humanname
405179981CV3148841single nucleotide variantNM_000160.5(GCGR):c.971G>A (p.Arg324His)not provided [RCV003858619]uncertain significance178181259981812599Humanname
405784626CV3261814single nucleotide variantNM_000160.5(GCGR):c.536A>C (p.Asn179Thr)not specified [RCV004387374]uncertain significance178181143981811439Humanname
407512225CV3432785single nucleotide variantNM_000160.5(GCGR):c.811G>A (p.Gly271Ser)not specified [RCV004626721]uncertain significance178181180481811804Humanname
597758111CV3677973single nucleotide variantNM_000160.5(GCGR):c.490G>T (p.Gly164Trp)not specified [RCV004925218]uncertain significance178181131881811318Humanname
597755438CV3677974single nucleotide variantNM_000160.5(GCGR):c.965T>C (p.Phe322Ser)not specified [RCV004924620]uncertain significance178181259381812593Humanname
597954079CV3795694single nucleotide variantNM_000160.5(GCGR):c.346C>T (p.Arg116Cys)not provided [RCV005136704]uncertain significance178181108481811084Humanname
597969561CV3821555single nucleotide variantNM_000160.5(GCGR):c.868G>A (p.Glu290Lys)not provided [RCV005166197]uncertain significance178181193681811936Humanname
597875593CV3829712single nucleotide variantNM_000160.5(GCGR):c.542T>C (p.Phe181Ser)not provided [RCV005177420]|not specified [RCV005338581]uncertain significance178181144581811445Humanname
597965346CV3848328single nucleotide variantNM_000160.5(GCGR):c.922C>T (p.Arg308Trp)not provided [RCV005194208]uncertain significance178181222681812226Humanname
126912524CV1038640single nucleotide variantNM_000160.5(GCGR):c.1096G>A (p.Ala366Thr)not provided [RCV001356584]uncertain significance178181286581812865Humanname
405172433CV1053029single nucleotide variantNM_000160.5(GCGR):c.1102G>A (p.Val368Met)not provided [RCV003727991]uncertain significance178181287181812871Humanname
151802711CV1375346single nucleotide variantNM_000160.5(GCGR):c.1138G>A (p.Ala380Thr)not provided [RCV001953076]|not specified [RCV004043194]uncertain significance178181290781812907Humanname
151783521CV1434586single nucleotide variantNM_000160.5(GCGR):c.1250G>A (p.Arg417His)not provided [RCV001897457]|not specified [RCV004041255]uncertain significance178181350581813505Humanname
152119496CV1579150single nucleotide variantNM_000160.5(GCGR):c.1007G>A (p.Arg336Gln)not provided [RCV002081356]likely benign178181263581812635Humanname
152036051CV1636184single nucleotide variantNM_000160.5(GCGR):c.1247A>T (p.His416Leu)not provided [RCV002106997]|not specified [RCV004044940]likely benign|uncertain significance178181350281813502Humanname
156293358CV1883913single nucleotide variantNM_000160.5(GCGR):c.1173C>A (p.Phe391Leu)not provided [RCV003087581]uncertain significance178181294281812942Humanname
156413514CV1900975single nucleotide variantNM_000160.5(GCGR):c.1324G>A (p.Gly442Ser)not provided [RCV002588188]uncertain significance178181357981813579Humanname
156120287CV2004148single nucleotide variantNM_000160.5(GCGR):c.1256G>A (p.Arg419His)not provided [RCV002662829]uncertain significance178181351181813511Humanname
156096319CV2102929single nucleotide variantNM_000160.5(GCGR):c.1247A>G (p.His416Arg)not provided [RCV002913229]likely benign178181350281813502Humanname
156270396CV2102930single nucleotide variantNM_000160.5(GCGR):c.1283G>A (p.Arg428Gln)not provided [RCV002895903]likely benign178181353881813538Humanname
156394215CV2141107single nucleotide variantNM_000160.5(GCGR):c.1003G>T (p.Ala335Ser)not provided [RCV002944243]uncertain significance178181263181812631Humanname
156061389CV2351321single nucleotide variantNM_000160.5(GCGR):c.1235G>T (p.Arg412Leu)not specified [RCV004193025]likely benign178181349081813490Humanname
156200584CV2362962single nucleotide variantNM_000160.5(GCGR):c.1072C>G (p.Leu358Val)not specified [RCV004209061]uncertain significance178181284181812841Humanname
401741531CV2697569single nucleotide variantNM_000160.5(GCGR):c.1343T>C (p.Leu448Pro)not specified [RCV004298324]uncertain significance178181359881813598Humanname
401764111CV2725440single nucleotide variantNM_000160.5(GCGR):c.1063A>G (p.Ile355Val)not specified [RCV004320076]uncertain significance178181283281812832Humanname
405176970CV2915817single nucleotide variantNM_000160.5(GCGR):c.1237C>T (p.Arg413Trp)not provided [RCV003563622]uncertain significance178181349281813492Humanname
405161622CV3021538single nucleotide variantNM_000160.5(GCGR):c.1110C>A (p.Asp370Glu)not provided [RCV003703952]uncertain significance178181287981812879Humanname
404993805CV3132517single nucleotide variantNM_000160.5(GCGR):c.1255C>T (p.Arg419Cys)not provided [RCV003827456]uncertain significance178181351081813510Humanname
405784620CV3261812single nucleotide variantNM_000160.5(GCGR):c.1235G>A (p.Arg412Gln)not specified [RCV004387372]uncertain significance178181349081813490Humanname
597755434CV3677972single nucleotide variantNM_000160.5(GCGR):c.1117G>A (p.Ala373Thr)not provided [RCV005110309]|not specified [RCV004924619]uncertain significance178181288681812886Humanname
597861894CV3766414single nucleotide variantNM_000160.5(GCGR):c.1241G>A (p.Arg414His)not provided [RCV005106139]benign178181349681813496Humanname
597872566CV3805348single nucleotide variantNM_000160.5(GCGR):c.1313C>T (p.Ser438Leu)not provided [RCV005148626]likely benign178181356881813568Humanname
597887926CV3859408single nucleotide variantNM_000160.5(GCGR):c.1297C>G (p.His433Asp)not provided [RCV005200064]uncertain significance178181355281813552Humanname
598159040CV3970456single nucleotide variantNM_000160.5(GCGR):c.1255C>A (p.Arg419Ser)not specified [RCV005328185]uncertain significance178181351081813510Humanname
598218397CV3970458single nucleotide variantNM_000160.5(GCGR):c.1133G>C (p.Arg378Pro)not specified [RCV005340146]uncertain significance178181290281812902Humanname
15139895CV715832single nucleotide variantNM_000160.5(GCGR):c.1372G>C (p.Asp458His)not provided [RCV000966044]benign178181362781813627Humanname
13832726CV583654microsatelliteNM_000160.5(GCGR):c.955TTC[1] (p.Phe320del)GCGR-related hyperglucagonemia [RCV001374862]|not provided [RCV000727657]pathogenic|uncertain significance178181258281812584Humanname , trait
156265494CV2011052deletionNM_000160.5(GCGR):c.464_493del (p.Ala155_Gly164del)not provided [RCV002714802]uncertain significance178181128481811313Humanname
127239168CV1062980microsatelliteNM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs)Retinoblastoma [RCV001387149]pathogenic134830395748303958Humanname
15186227CV698882microsatelliteNM_016580.4(PCDH12):c.3527_3534GCA[2]GCGGCAGCAGCAGCAGCAGC[1] (p.Ser1178_Ser1179insGlySerSerSerSerSer)not provided [RCV000953220]likely benign5141945401141945402Humanname