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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


974 records found for search term Lct
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8559426CV21626deletionLCT, 4-BP DEL, NT4998Congenital lactase deficiency [RCV000006965]pathogenicHumanname
11590044CV281846single nucleotide variantNM_002299.4(LCT):c.*50G>CCongenital lactase deficiency [RCV000367706]|Lactose intolerance [RCV000315325]|not provided [RCV001672560]benign2135788274135788274Human3name
11589261CV284362single nucleotide variantNM_002299.4(LCT):c.*10A>CCongenital lactase deficiency [RCV000404521]|Lactose intolerance [RCV000309257]uncertain significance2135788314135788314Human3name
11590797CV282500single nucleotide variantNM_002299.4(LCT):c.*429A>CCongenital lactase deficiency [RCV000322643]|Lactose intolerance [RCV000379568]|not provided [RCV004710844]likely benign2135787895135787895Human3name
11585710CV282503single nucleotide variantNM_002299.4(LCT):c.*325G>CCongenital lactase deficiency [RCV000282754]|Lactose intolerance [RCV000337708]benign|uncertain significance2135787999135787999Human3name
11592218CV284144single nucleotide variantNM_002299.4(LCT):c.*230T>CCongenital lactase deficiency [RCV000405959]|Lactose intolerance [RCV000336547]uncertain significance2135788094135788094Human3name
11647957CV284357single nucleotide variantNM_002299.4(LCT):c.*251G>ACongenital lactase deficiency [RCV000392278]|Lactose intolerance [RCV000279167]uncertain significance2135788073135788073Human3name
28874751CV881066single nucleotide variantNM_002299.4(LCT):c.*275A>GCongenital lactase deficiency [RCV001133554]uncertain significance2135788049135788049Human1name
28874752CV881067single nucleotide variantNM_002299.4(LCT):c.*239C>TCongenital lactase deficiency [RCV001133555]uncertain significance2135788085135788085Human1name
28874756CV881068single nucleotide variantNM_002299.4(LCT):c.*235C>TCongenital lactase deficiency [RCV001133556]likely benign2135788089135788089Human1name
28874758CV881069single nucleotide variantNM_002299.4(LCT):c.*193C>TCongenital lactase deficiency [RCV001133557]uncertain significance2135788131135788131Human1name
152173044CV1641819deletionNM_002299.4(LCT):c.721-9delnot provided [RCV002184044]likely benign2135829685135829685Humanname
401936196CV2802819single nucleotide variantNM_002299.4(LCT):c.805-1G>TLCT-related disorder [RCV003414172]likely pathogenic2135824004135824004Humanname , trait , alternate_id
405119271CV2949767single nucleotide variantNM_002299.4(LCT):c.640+7A>Gnot provided [RCV003667166]likely benign2135836523135836523Humanname
402514415CV2993088single nucleotide variantNM_002299.4(LCT):c.720+1G>Tnot provided [RCV003715952]likely pathogenic2135833110135833110Humanname
127247643CV1067820single nucleotide variantNM_002299.4(LCT):c.641-20G>Anot provided [RCV001416936]likely benign2135833210135833210Humanname
127234585CV1089544single nucleotide variantNM_002299.4(LCT):c.4174-9C>TLCT-related disorder [RCV003973271]|not provided [RCV001422086]likely benign2135805066135805066Human1name , trait , alternate_id
127233873CV1089545single nucleotide variantNM_002299.4(LCT):c.907+17T>Anot provided [RCV001421895]likely benign2135823884135823884Humanname
127314506CV1131957single nucleotide variantNM_002299.4(LCT):c.804+14T>Cnot provided [RCV001482235]likely benign2135829579135829579Humanname
151839714CV1415267single nucleotide variantNM_002299.4(LCT):c.5111+4A>Gnot provided [RCV001921386]uncertain significance2135794637135794637Humanname
151722053CV1421902deletionNM_002299.4(LCT):c.5111+1delnot provided [RCV001909886]pathogenic2135794640135794640Humanname
151787820CV1510071single nucleotide variantNM_002299.4(LCT):c.4867-5C>Anot provided [RCV001916513]uncertain significance2135798143135798143Humanname
152038105CV1529725single nucleotide variantNM_002299.4(LCT):c.805-10T>Cnot provided [RCV002187837]likely benign2135824013135824013Humanname
152162335CV1535010single nucleotide variantNM_002299.4(LCT):c.4465-8C>Tnot provided [RCV002141131]likely benign2135804136135804136Humanname
152126305CV1565799single nucleotide variantNM_002299.4(LCT):c.720+18A>Gnot provided [RCV002136363]likely benign2135833093135833093Humanname
152105262CV1572443single nucleotide variantNM_002299.4(LCT):c.4664-5T>Cnot provided [RCV002152316]likely benign2135800814135800814Humanname
152148061CV1618825single nucleotide variantNM_002299.4(LCT):c.721-19A>Tnot provided [RCV002121360]likely benign2135829695135829695Humanname
152164029CV1619589single nucleotide variantNM_002299.4(LCT):c.986+20T>Gnot provided [RCV002181455]likely benign2135822000135822000Humanname
152132159CV1621307single nucleotide variantNM_002299.4(LCT):c.4464+7T>Gnot provided [RCV002218219]likely benign2135804760135804760Humanname
152117250CV1633467single nucleotide variantNM_002299.4(LCT):c.4977-4C>Tnot provided [RCV002117358]likely benign2135794779135794779Humanname
152173547CV1662691single nucleotide variantNM_002299.4(LCT):c.986+12T>Cnot provided [RCV002144142]likely benign2135822008135822008Humanname
156441914CV1941640single nucleotide variantNM_002299.4(LCT):c.3904+9G>Anot provided [RCV003112248]likely benign2135808434135808434Humanname
156157391CV1967704single nucleotide variantNM_002299.4(LCT):c.4663+8C>Gnot provided [RCV002594346]likely benign2135803922135803922Humanname
156412118CV1970184single nucleotide variantNM_002299.4(LCT):c.4867-6C>Anot provided [RCV002608448]likely benign2135798144135798144Humanname
156344551CV1970438single nucleotide variantNM_002299.4(LCT):c.5112-3T>Cnot provided [RCV002601459]uncertain significance2135790884135790884Humanname
156354899CV2008771single nucleotide variantNM_002299.4(LCT):c.1708-8T>Cnot provided [RCV002720453]likely benign2135812964135812964Humanname
156160967CV2009502single nucleotide variantNM_002299.4(LCT):c.720+11C>Gnot provided [RCV002710169]likely benign2135833100135833100Humanname
156378908CV2050733single nucleotide variantNM_002299.4(LCT):c.640+16C>Tnot provided [RCV002814931]likely benign2135836514135836514Humanname
156117558CV2081358single nucleotide variantNM_002299.4(LCT):c.641-11G>Anot provided [RCV002889429]likely benign2135833201135833201Humanname
156154013CV2098615single nucleotide variantNM_002299.4(LCT):c.5111+7C>Anot provided [RCV002890751]likely benign2135794634135794634Humanname
155939631CV2142826single nucleotide variantNM_002299.4(LCT):c.3904+1G>Anot provided [RCV002993966]likely pathogenic2135808442135808442Humanname
8560049CV22724single nucleotide variantNM_002299.2(LCT):c.-13907C>TLACTASE PERSISTENCE [RCV000008124]pathogenic|association2135851076135851076Humanname
401873259CV2752061single nucleotide variantNM_002299.4(LCT):c.4866+2T>GCongenital lactase deficiency [RCV003335938]|not provided [RCV003669389]likely pathogenic2135800605135800605Human1name
11586560CV281844microsatelliteNM_002299.4(LCT):c.*442GT[1]Congenital lactase deficiency [RCV000288729]|Lactose intolerance [RCV000382836]likely benign2135787879135787880Humanname
405141465CV2962032single nucleotide variantNM_002299.4(LCT):c.4173+9T>Cnot provided [RCV003673217]likely benign2135807119135807119Humanname
405130928CV2962363single nucleotide variantNM_002299.4(LCT):c.2353+9A>Gnot provided [RCV003668318]likely benign2135812302135812302Humanname
405221023CV2969631single nucleotide variantNM_002299.4(LCT):c.5564-7C>Anot provided [RCV003680566]likely benign2135788551135788551Humanname
404997062CV3012422single nucleotide variantNM_002299.4(LCT):c.4976+1G>Tnot provided [RCV003692800]likely pathogenic2135798028135798028Humanname
405181728CV3024372deletionNM_002299.4(LCT):c.986+16delnot provided [RCV003705600]likely benign2135822004135822004Humanname
405202456CV3066977single nucleotide variantNM_002299.4(LCT):c.2353+7A>Tnot provided [RCV003730848]likely benign2135812304135812304Humanname
405190464CV3118015single nucleotide variantNM_002299.4(LCT):c.4867-4G>Anot provided [RCV003820925]likely benign2135798142135798142Humanname
405187000CV3124378single nucleotide variantNM_002299.4(LCT):c.720+16A>Gnot provided [RCV003820577]likely benign2135833095135833095Humanname
405077481CV3156266single nucleotide variantNM_002299.4(LCT):c.986+19T>Cnot provided [RCV003851324]likely benign2135822001135822001Humanname
405236949CV3166579single nucleotide variantNM_002299.4(LCT):c.4867-5C>Tnot provided [RCV003854029]likely benign2135798143135798143Humanname
597944265CV3776549single nucleotide variantNM_002299.4(LCT):c.721-20T>Cnot provided [RCV005119405]likely benign2135829696135829696Humanname
597961395CV3794913single nucleotide variantNM_002299.4(LCT):c.908-12C>Anot provided [RCV005138818]likely benign2135822110135822110Humanname
597863050CV3813582single nucleotide variantNM_002299.4(LCT):c.5563+9T>Anot provided [RCV005146844]likely benign2135789562135789562Humanname
597962910CV3819483single nucleotide variantNM_002299.4(LCT):c.908-11T>Gnot provided [RCV005164199]likely benign2135822109135822109Humanname
597967119CV3824178single nucleotide variantNM_002299.4(LCT):c.805-15C>Tnot provided [RCV005165401]likely benign2135824018135824018Humanname
597963010CV3841308single nucleotide variantNM_002299.4(LCT):c.5335+7C>Tnot provided [RCV005193411]likely benign2135790651135790651Humanname
597886292CV3854924single nucleotide variantNM_002299.4(LCT):c.2354-4A>Cnot provided [RCV005199770]likely benign2135809997135809997Humanname
28878107CV882797single nucleotide variantNM_002299.4(LCT):c.5563+7T>CCongenital lactase deficiency [RCV001135043]uncertain significance2135789564135789564Human1name
28868529CV882798single nucleotide variantNM_002299.4(LCT):c.5335+5G>ACongenital lactase deficiency [RCV001130017]uncertain significance2135790653135790653Human1name
28878484CV882801single nucleotide variantNM_002299.4(LCT):c.4173+5G>ACongenital lactase deficiency [RCV001135187]|not provided [RCV001856726]uncertain significance2135807123135807123Human1name
127303777CV1153798single nucleotide variantNM_002299.4(LCT):c.4866+20G>Anot provided [RCV001515602]|not specified [RCV001529150]benign2135800587135800587Humanname
150335774CV1164875single nucleotide variantNM_002299.4(LCT):c.4465-37C>TCongenital lactase deficiency [RCV001730826]|not provided [RCV001530548]benign2135804165135804165Human1name
150512970CV1213060single nucleotide variantNM_002299.4(LCT):c.5335+22C>Anot provided [RCV001598293]benign2135790636135790636Humanname
150506133CV1213702single nucleotide variantNM_002299.4(LCT):c.4977-26T>CCongenital lactase deficiency [RCV001730861]|not provided [RCV001595958]benign2135794801135794801Human1name
150434408CV1215882single nucleotide variantNM_002299.4(LCT):c.4976+74A>Cnot provided [RCV001609070]benign2135797955135797955Humanname
150464482CV1217534single nucleotide variantNM_002299.4(LCT):c.907+117A>Cnot provided [RCV001613955]benign2135823784135823784Humanname
150499620CV1224622single nucleotide variantNM_002299.4(LCT):c.987-256G>Tnot provided [RCV001620453]benign2135818317135818317Humanname
150502687CV1241622single nucleotide variantNM_002299.4(LCT):c.986+180T>Cnot provided [RCV001657213]benign2135821840135821840Humanname
150503284CV1241770single nucleotide variantNM_002299.4(LCT):c.3905-62G>Cnot provided [RCV001657361]benign2135807458135807458Humanname
150510639CV1242455single nucleotide variantNM_002299.4(LCT):c.5564-37G>Anot provided [RCV001660805]benign2135788581135788581Humanname
150512004CV1242854single nucleotide variantNM_002299.4(LCT):c.5111+23C>TCongenital lactase deficiency [RCV001730923]|not provided [RCV001661208]benign2135794618135794618Human1name
150485608CV1250263single nucleotide variantNM_002299.4(LCT):c.5335+36C>Tnot provided [RCV001673876]benign2135790622135790622Humanname
150473376CV1252397single nucleotide variantNM_002299.4(LCT):c.804+205G>Tnot provided [RCV001671599]benign2135829388135829388Humanname
150502173CV1255227single nucleotide variantNM_002299.4(LCT):c.5335+59T>Cnot provided [RCV001677146]benign2135790599135790599Humanname
150495205CV1256590single nucleotide variantNM_002299.4(LCT):c.5563+74T>Cnot provided [RCV001675555]benign2135789497135789497Humanname
150479440CV1258254single nucleotide variantNM_002299.4(LCT):c.1708-87T>Anot provided [RCV001685672]benign2135813043135813043Humanname
150457323CV1260122single nucleotide variantNM_002299.4(LCT):c.805-112C>Gnot provided [RCV001681602]benign2135824115135824115Humanname
150452419CV1260393single nucleotide variantNM_002299.4(LCT):c.640+140A>Gnot provided [RCV001680883]benign2135836390135836390Humanname
150497392CV1271721single nucleotide variantNM_002299.4(LCT):c.720+123G>Anot provided [RCV001689022]benign2135832988135832988Humanname
150514940CV1285373single nucleotide variantNM_002299.4(LCT):c.805-275T>Cnot provided [RCV001722826]benign2135824278135824278Humanname
150514974CV1285384single nucleotide variantNM_002299.4(LCT):c.2354-70T>Cnot provided [RCV001722837]benign2135810063135810063Humanname
150515060CV1285413single nucleotide variantNM_002299.4(LCT):c.2353+33G>Tnot provided [RCV001722866]benign2135812278135812278Humanname
152046319CV1525827single nucleotide variantNM_002299.4(LCT):c.4977-19A>Cnot provided [RCV002126684]likely benign2135794794135794794Humanname
152161207CV1531034single nucleotide variantNM_002299.4(LCT):c.3904+12T>Cnot provided [RCV002123228]benign2135808431135808431Humanname
152161452CV1531125single nucleotide variantNM_002299.4(LCT):c.5564-17G>Anot provided [RCV002123272]benign2135788561135788561Humanname
152139553CV1549702single nucleotide variantNM_002299.4(LCT):c.5111+20G>Tnot provided [RCV002156582]likely benign2135794621135794621Humanname
152172400CV1575823single nucleotide variantNM_002299.4(LCT):c.4976+18G>Anot provided [RCV002183827]likely benign2135798011135798011Humanname
152093034CV1584609single nucleotide variantNM_002299.4(LCT):c.4464+17C>Anot provided [RCV002114335]benign2135804750135804750Humanname
152069410CV1589196single nucleotide variantNM_002299.4(LCT):c.4664-20A>Tnot provided [RCV002209784]likely benign2135800829135800829Humanname
152110256CV1617663single nucleotide variantNM_002299.4(LCT):c.5336-14C>Anot provided [RCV002116455]likely benign2135789812135789812Humanname
152093384CV1625847duplicationNM_002299.4(LCT):c.3904+15dupnot provided [RCV002150877]likely benign2135808427135808428Humanname
152160389CV1650116single nucleotide variantNM_002299.4(LCT):c.3905-19C>Gnot provided [RCV002159533]likely benign2135807415135807415Humanname
152064391CV1654244single nucleotide variantNM_002299.4(LCT):c.4976+18G>Tnot provided [RCV002190946]likely benign2135798011135798011Humanname
152091665CV1662243single nucleotide variantNM_002299.4(LCT):c.3905-18C>Tnot provided [RCV002132121]benign2135807414135807414Humanname
156173268CV1956390single nucleotide variantNM_002299.4(LCT):c.2353+20C>Anot provided [RCV002573876]likely benign2135812291135812291Humanname
156317028CV1975046single nucleotide variantNM_002299.4(LCT):c.4976+12G>Anot provided [RCV002630122]likely benign2135798017135798017Humanname
156164144CV1986057single nucleotide variantNM_002299.4(LCT):c.5335+13C>Anot provided [RCV002642516]likely benign2135790645135790645Humanname
156227499CV1991627single nucleotide variantNM_002299.4(LCT):c.1708-20C>Tnot provided [RCV002626672]likely benign2135812976135812976Humanname
155957454CV2078414single nucleotide variantNM_002299.4(LCT):c.2353+14A>Cnot provided [RCV002880843]likely benign2135812297135812297Humanname
156116030CV2093185single nucleotide variantNM_002299.4(LCT):c.1707+17C>Anot provided [RCV002913972]likely benign2135817324135817324Humanname
156096827CV2152197single nucleotide variantNM_002299.4(LCT):c.1707+20C>Gnot provided [RCV003020898]likely benign2135817321135817321Humanname
405035333CV2923492single nucleotide variantNM_002299.4(LCT):c.4867-18C>Tnot provided [RCV003578654]likely benign2135798156135798156Humanname
402503744CV2932690single nucleotide variantNM_002299.4(LCT):c.5336-14C>Tnot provided [RCV003574200]likely benign2135789812135789812Humanname
405132996CV2962385single nucleotide variantNM_002299.4(LCT):c.4464+10G>Anot provided [RCV003668333]likely benign2135804757135804757Humanname
405215568CV2981565single nucleotide variantNM_002299.4(LCT):c.4465-17A>Cnot provided [RCV003709208]likely benign2135804145135804145Humanname
405249344CV2987246single nucleotide variantNM_002299.4(LCT):c.3904+19C>Tnot provided [RCV003686068]likely benign2135808424135808424Humanname
402480380CV3033280single nucleotide variantNM_002299.4(LCT):c.2354-20A>Gnot provided [RCV003712754]likely benign2135810013135810013Humanname
405225205CV3042012single nucleotide variantNM_002299.4(LCT):c.2353+16G>Anot provided [RCV003710513]likely benign2135812295135812295Humanname
405205406CV3116996single nucleotide variantNM_002299.4(LCT):c.3905-18C>Gnot provided [RCV003822480]likely benign2135807414135807414Humanname
405082555CV3137427single nucleotide variantNM_002299.4(LCT):c.4977-19A>Gnot provided [RCV003834136]likely benign2135794794135794794Humanname
405170133CV3149920single nucleotide variantNM_002299.4(LCT):c.4174-20C>Gnot provided [RCV003841391]likely benign2135805077135805077Humanname
405140467CV3155159single nucleotide variantNM_002299.4(LCT):c.5564-20C>Tnot provided [RCV003855397]likely benign2135788564135788564Humanname
405225999CV3169341single nucleotide variantNM_002299.4(LCT):c.4867-14C>Gnot provided [RCV003864365]likely benign2135798152135798152Humanname
405238422CV3169633single nucleotide variantNM_002299.4(LCT):c.1707+19G>Anot provided [RCV003866721]likely benign2135817322135817322Humanname
597837437CV3736482single nucleotide variantNM_002299.4(LCT):c.5335+14G>Anot provided [RCV005064155]likely benign2135790644135790644Humanname
597871843CV3737315single nucleotide variantNM_002299.4(LCT):c.4976+17C>Tnot provided [RCV005068761]likely benign2135798012135798012Humanname
597852315CV3737626single nucleotide variantNM_002299.4(LCT):c.4663+19T>Anot provided [RCV005066399]likely benign2135803911135803911Humanname
597858195CV3748241single nucleotide variantNM_002299.4(LCT):c.4866+19C>Tnot provided [RCV005067063]likely benign2135800588135800588Humanname
597922056CV3777453single nucleotide variantNM_002299.4(LCT):c.2354-20A>Tnot provided [RCV005130382]likely benign2135810013135810013Humanname
597957490CV3800533single nucleotide variantNM_002299.4(LCT):c.4977-18A>Cnot provided [RCV005137625]likely benign2135794793135794793Humanname
597962761CV3809258single nucleotide variantNM_002299.4(LCT):c.5335+13C>Tnot provided [RCV005164160]likely benign2135790645135790645Humanname
597928971CV3816209single nucleotide variantNM_002299.4(LCT):c.4977-15G>Anot provided [RCV005156790]likely benign2135794790135794790Humanname
597882172CV3823024single nucleotide variantNM_002299.4(LCT):c.5111+15A>Tnot provided [RCV005178350]likely benign2135794626135794626Humanname
597973925CV3831144single nucleotide variantNM_002299.4(LCT):c.5564-10A>Gnot provided [RCV005168282]likely benign2135788554135788554Humanname
28868532CV882799single nucleotide variantNM_002299.4(LCT):c.4866+12C>TCongenital lactase deficiency [RCV001130018]|not provided [RCV001519668]benign|likely benign2135800595135800595Human1name
28869604CV882800single nucleotide variantNM_002299.4(LCT):c.4664-10A>GCongenital lactase deficiency [RCV001130730]|not provided [RCV001856694]likely benign|uncertain significance2135800819135800819Human1name
150336027CV1164874single nucleotide variantNM_002299.4(LCT):c.5335+112C>Gnot provided [RCV001530658]benign2135790546135790546Humanname
150511442CV1212746deletionNM_002299.4(LCT):c.1707+297delnot provided [RCV001597978]benign2135817044135817044Humanname
150499568CV1224612single nucleotide variantNM_002299.4(LCT):c.4174-186A>Gnot provided [RCV001620443]benign2135805243135805243Humanname
150500381CV1224778single nucleotide variantNM_002299.4(LCT):c.5563+214G>Anot provided [RCV001620610]benign2135789357135789357Humanname
150495356CV1225055single nucleotide variantNM_002299.4(LCT):c.4977-181T>Gnot provided [RCV001619533]benign2135794956135794956Humanname
150495791CV1225163duplicationNM_002299.4(LCT):c.4977-168dupnot provided [RCV001619641]benign2135794942135794943Humanname
150430479CV1230900single nucleotide variantNM_002299.4(LCT):c.4977-172C>Tnot provided [RCV001641449]benign2135794947135794947Humanname
150506050CV1242118single nucleotide variantNM_002299.4(LCT):c.4976+115A>Gnot provided [RCV001658471]benign2135797914135797914Humanname
150460164CV1253063single nucleotide variantNM_002299.4(LCT):c.4174-301A>Gnot provided [RCV001669392]benign2135805358135805358Humanname
150458281CV1269609single nucleotide variantNM_002299.4(LCT):c.5336-115C>Tnot provided [RCV001693149]benign2135789913135789913Humanname
150512278CV1284905single nucleotide variantNM_002299.4(LCT):c.1708-224A>Gnot provided [RCV001721774]benign2135813180135813180Humanname
150468543CV1257066microsatelliteNM_002299.4(LCT):c.4977-270CG[7]not provided [RCV001670712]benign2135795033135795034Humanname
402493403CV2874186single nucleotide variantNM_002299.4(LCT):c.6G>A (p.Glu2=)not provided [RCV003545145]likely benign2135837164135837164Humanname
28879218CV881105single nucleotide variantNM_002299.4(LCT):c.21A>G (p.Val7=)Congenital lactase deficiency [RCV001135459]|not provided [RCV001504411]likely benign|uncertain significance2135837149135837149Human1name
152166286CV1620875single nucleotide variantNM_002299.4(LCT):c.34C>T (p.Leu12=)not provided [RCV002181902]likely benign2135837136135837136Humanname
152108661CV1643608single nucleotide variantNM_002299.4(LCT):c.93C>T (p.Thr31=)not provided [RCV002096541]likely benign2135837077135837077Humanname
11580690CV281866microsatelliteNM_002299.4(LCT):c.4173+6_4173+8delCongenital lactase deficiency [RCV000406813]|LCT-related disorder [RCV003912390]|Lactose intolerance [RCV000341400]|not provided [RCV000900468]benign|uncertain significance2135807120135807122Humanname , trait , alternate_id
405136087CV3052200single nucleotide variantNM_002299.4(LCT):c.57G>A (p.Gly19=)not provided [RCV003725249]likely benign2135837113135837113Humanname
405245976CV3075662single nucleotide variantNM_002299.4(LCT):c.57G>T (p.Gly19=)not provided [RCV003738608]likely benign2135837113135837113Humanname
597848011CV3746426single nucleotide variantNM_002299.4(LCT):c.33C>A (p.Ala11=)not provided [RCV005060244]likely benign2135837137135837137Humanname
28879214CV881104single nucleotide variantNM_002299.4(LCT):c.30T>C (p.Ile10=)Congenital lactase deficiency [RCV001135458]|not provided [RCV002070581]benign|uncertain significance2135837140135837140Human1name
152098032CV1534430single nucleotide variantNM_002299.4(LCT):c.207C>G (p.Pro69=)not provided [RCV002095124]likely benign2135836963135836963Humanname
152149842CV1545467single nucleotide variantNM_002299.4(LCT):c.216G>C (p.Leu72=)not provided [RCV002121588]likely benign2135836954135836954Humanname
152027898CV1607534single nucleotide variantNM_002299.4(LCT):c.168A>G (p.Ala56=)not provided [RCV002105051]likely benign2135837002135837002Humanname
156282293CV1964430single nucleotide variantNM_002299.4(LCT):c.156T>C (p.Ser52=)not provided [RCV002577518]likely benign2135837014135837014Humanname
156099404CV2007667single nucleotide variantNM_002299.4(LCT):c.105A>C (p.Leu35=)not provided [RCV002695247]likely benign2135837065135837065Humanname
156314338CV2017876single nucleotide variantNM_002299.4(LCT):c.27T>G (p.Phe9Leu)not provided [RCV002671814]uncertain significance2135837143135837143Humanname
156353648CV2190610single nucleotide variantNM_002299.4(LCT):c.180C>T (p.Asp60=)not provided [RCV003048520]likely benign2135836990135836990Humanname
405184298CV2967550single nucleotide variantNM_002299.4(LCT):c.189T>C (p.Val63=)not provided [RCV003676597]likely benign2135836981135836981Humanname
405214339CV2971474single nucleotide variantNM_002299.4(LCT):c.141G>A (p.Leu47=)not provided [RCV003679820]likely benign2135837029135837029Humanname
405178182CV3148578duplicationNM_002299.4(LCT):c.27dup (p.Ile10fs)not provided [RCV003858355]pathogenic2135837142135837143Humanname
597948452CV3818321single nucleotide variantNM_002299.4(LCT):c.237C>T (p.Leu79=)not provided [RCV005160582]likely benign2135836933135836933Humanname
151804294CV1432273single nucleotide variantNM_002299.4(LCT):c.29T>C (p.Ile10Thr)Inborn genetic diseases [RCV003355728]|not provided [RCV001991235]uncertain significance2135837141135837141Human1name
152046309CV1525826deletionNM_002299.4(LCT):c.4977-18_4977-16delnot provided [RCV002126683]likely benign2135794791135794793Humanname
152070579CV1535399single nucleotide variantNM_002299.4(LCT):c.966T>C (p.Cys322=)LCT-related disorder [RCV003951023]|not provided [RCV002111394]likely benign2135822040135822040Human1name , trait , alternate_id
152164321CV1543486single nucleotide variantNM_002299.4(LCT):c.663G>T (p.Leu221=)not provided [RCV002123777]likely benign2135833168135833168Humanname
152143549CV1557033single nucleotide variantNM_002299.4(LCT):c.585C>T (p.Leu195=)not provided [RCV002200893]likely benign2135836585135836585Humanname
152094194CV1561734single nucleotide variantNM_002299.4(LCT):c.876C>T (p.Asn292=)not provided [RCV002194696]likely benign2135823932135823932Humanname
152029256CV1568204single nucleotide variantNM_002299.4(LCT):c.711G>T (p.Ala237=)not provided [RCV002105524]likely benign2135833120135833120Humanname
152120757CV1576251single nucleotide variantNM_002299.4(LCT):c.567G>A (p.Ala189=)not provided [RCV002198020]likely benign2135836603135836603Humanname
152119545CV1579158deletionNM_002299.4(LCT):c.4663+12_4663+24delnot provided [RCV002081363]likely benign2135803906135803918Humanname
152164618CV1588588single nucleotide variantNM_002299.4(LCT):c.357C>T (p.Ala119=)not provided [RCV002181572]likely benign2135836813135836813Humanname
152043058CV1640234single nucleotide variantNM_002299.4(LCT):c.642C>T (p.Gly214=)not provided [RCV002165941]likely benign2135833189135833189Humanname
152089107CV1655826single nucleotide variantNM_002299.4(LCT):c.888G>C (p.Leu296=)not provided [RCV002194063]likely benign2135823920135823920Humanname
156440268CV1946629single nucleotide variantNM_002299.4(LCT):c.477C>T (p.Phe159=)not provided [RCV003110299]likely benign2135836693135836693Humanname
156336878CV1963990single nucleotide variantNM_002299.4(LCT):c.726G>A (p.Thr242=)not provided [RCV002580291]likely benign2135829671135829671Humanname
155901177CV1975652single nucleotide variantNM_002299.4(LCT):c.861C>T (p.Pro287=)not provided [RCV002613396]likely benign2135823947135823947Humanname
156405168CV1994258single nucleotide variantNM_002299.4(LCT):c.351C>T (p.Leu117=)not provided [RCV002658239]likely benign2135836819135836819Humanname
156029562CV2001016single nucleotide variantNM_002299.4(LCT):c.471C>T (p.Phe157=)not provided [RCV002658601]likely benign2135836699135836699Humanname
156072331CV2018598single nucleotide variantNM_002299.4(LCT):c.468A>G (p.Thr156=)not provided [RCV002705723]likely benign2135836702135836702Humanname
156249784CV2029556single nucleotide variantNM_002299.4(LCT):c.62A>C (p.Asp21Ala)not provided [RCV002745949]uncertain significance2135837108135837108Humanname
156025272CV2100157single nucleotide variantNM_002299.4(LCT):c.426G>C (p.Arg142=)not provided [RCV002885146]likely benign2135836744135836744Humanname
155979305CV2101524single nucleotide variantNM_002299.4(LCT):c.651C>G (p.Leu217=)not provided [RCV002907625]likely benign2135833180135833180Humanname
156374034CV2123915single nucleotide variantNM_002299.4(LCT):c.664C>A (p.Arg222=)not provided [RCV002942560]likely benign2135833167135833167Humanname
156358001CV2126216single nucleotide variantNM_002299.4(LCT):c.681G>A (p.Pro227=)not provided [RCV002966795]uncertain significance2135833150135833150Humanname
156206601CV2146986single nucleotide variantNM_002299.4(LCT):c.657T>C (p.Val219=)not provided [RCV003006522]likely benign2135833174135833174Humanname
11579471CV281889single nucleotide variantNM_002299.4(LCT):c.582C>T (p.Thr194=)Congenital lactase deficiency [RCV000407317]|Lactose intolerance [RCV000304642]|not provided [RCV001511199]benign2135836588135836588Human3name
11578572CV282525single nucleotide variantNM_002299.4(LCT):c.621C>T (p.His207=)Congenital lactase deficiency [RCV000339630]|Lactose intolerance [RCV000284490]uncertain significance2135836549135836549Human3name
11578115CV284187single nucleotide variantNM_002299.4(LCT):c.318C>T (p.Asp106=)Congenital lactase deficiency [RCV000274754]|Inborn genetic diseases [RCV005365251]|LCT-related disorder [RCV003912391]|Lactose intolerance [RCV000311055]|not provided [RCV001510959]benign|likely benign2135836852135836852Human4name , trait , alternate_id
11579148CV284428single nucleotide variantNM_002299.4(LCT):c.729C>G (p.Val243=)Congenital lactase deficiency [RCV000296560]|Lactose intolerance [RCV000333068]|not provided [RCV001522567]benign|likely benign2135829668135829668Human3name
11647340CV284435single nucleotide variantNM_002299.4(LCT):c.54G>C (p.Trp18Cys)Congenital lactase deficiency [RCV000370438]|Lactose intolerance [RCV000275730]|not provided [RCV002521296]uncertain significance2135837116135837116Human3name
405081777CV2864860single nucleotide variantNM_002299.4(LCT):c.799T>C (p.Leu267=)not provided [RCV003549288]likely benign2135829598135829598Humanname
405228225CV2980670single nucleotide variantNM_002299.4(LCT):c.972A>G (p.Ser324=)not provided [RCV003711072]likely benign2135822034135822034Humanname
405042077CV3064100single nucleotide variantNM_002299.4(LCT):c.885T>C (p.Ser295=)not provided [RCV003739975]likely benign2135823923135823923Humanname
405242075CV3078598single nucleotide variantNM_002299.4(LCT):c.486C>T (p.Phe162=)not provided [RCV003737495]likely benign2135836684135836684Humanname
405136174CV3164330single nucleotide variantNM_002299.4(LCT):c.366T>C (p.Thr122=)not provided [RCV003855125]likely benign2135836804135836804Humanname
407491496CV3452566single nucleotide variantNM_002299.4(LCT):c.98G>T (p.Gly33Val)Inborn genetic diseases [RCV004642232]uncertain significance2135837072135837072Human1name
597906875CV3738840single nucleotide variantNM_002299.4(LCT):c.510C>T (p.Phe170=)not provided [RCV005073075]likely benign2135836660135836660Humanname
597856857CV3748100single nucleotide variantNM_002299.4(LCT):c.765A>G (p.Gln255=)not provided [RCV005066922]likely benign2135829632135829632Humanname
597964824CV3751020microsatelliteNM_002299.4(LCT):c.1708-16_1708-14delnot provided [RCV005082582]likely benign2135812970135812972Humanname
597857428CV3769495single nucleotide variantNM_002299.4(LCT):c.837C>T (p.Phe279=)not provided [RCV005105536]likely benign2135823971135823971Humanname
597938346CV3788252single nucleotide variantNM_002299.4(LCT):c.345A>G (p.Arg115=)not provided [RCV005132927]likely benign2135836825135836825Humanname
597879575CV3810152single nucleotide variantNM_002299.4(LCT):c.633T>C (p.Ala211=)not provided [RCV005149614]likely benign2135836537135836537Humanname
597974023CV3821043single nucleotide variantNM_002299.4(LCT):c.900T>C (p.Leu300=)not provided [RCV005168364]likely benign2135823908135823908Humanname
597879494CV3856973single nucleotide variantNM_002299.4(LCT):c.651C>A (p.Leu217=)not provided [RCV005198773]likely benign2135833180135833180Humanname
28870086CV881098single nucleotide variantNM_002299.4(LCT):c.840C>T (p.Asn280=)Congenital lactase deficiency [RCV001130997]|not provided [RCV001856695]likely benign|uncertain significance2135823968135823968Human1name
28879209CV881103single nucleotide variantNM_002299.4(LCT):c.89C>T (p.Ser30Phe)Congenital lactase deficiency [RCV001135457]|Inborn genetic diseases [RCV002556887]|not provided [RCV001856728]uncertain significance2135837081135837081Human2name
127328559CV1111089single nucleotide variantNM_002299.4(LCT):c.2337C>A (p.Ile779=)not provided [RCV001469603]likely benign2135812327135812327Humanname
151771743CV1404580single nucleotide variantNM_002299.4(LCT):c.109A>G (p.Asn37Asp)not provided [RCV002045312]uncertain significance2135837061135837061Humanname
151767497CV1415109single nucleotide variantNM_002299.4(LCT):c.289C>T (p.Leu97Phe)not provided [RCV001929194]uncertain significance2135836881135836881Humanname
151867341CV1422599single nucleotide variantNM_002299.4(LCT):c.268T>C (p.Phe90Leu)Inborn genetic diseases [RCV004631798]|not provided [RCV001884699]uncertain significance2135836902135836902Human1name
151709320CV1461019single nucleotide variantNM_002299.4(LCT):c.172G>A (p.Asp58Asn)not provided [RCV001889033]uncertain significance2135836998135836998Humanname
152121402CV1521439single nucleotide variantNM_002299.4(LCT):c.1044C>T (p.His348=)not provided [RCV002135752]likely benign2135818004135818004Humanname
152147691CV1528650single nucleotide variantNM_002299.4(LCT):c.1122G>A (p.Arg374=)not provided [RCV002101734]likely benign2135817926135817926Humanname
152124940CV1532254single nucleotide variantNM_002299.4(LCT):c.2283A>G (p.Glu761=)not provided [RCV002118328]likely benign2135812381135812381Humanname
152110131CV1536930single nucleotide variantNM_002299.4(LCT):c.1689A>G (p.Pro563=)not provided [RCV002215368]likely benign2135817359135817359Humanname
152164761CV1543596single nucleotide variantNM_002299.4(LCT):c.2187C>T (p.Pro729=)not provided [RCV002123869]likely benign2135812477135812477Humanname
152114160CV1559326single nucleotide variantNM_002299.4(LCT):c.2985T>C (p.His995=)not provided [RCV002174706]likely benign2135809362135809362Humanname
152050285CV1569005single nucleotide variantNM_002299.4(LCT):c.1692A>G (p.Gly564=)LCT-related disorder [RCV003968802]|not provided [RCV002207434]likely benign2135817356135817356Human1name , trait , alternate_id
152148202CV1576946single nucleotide variantNM_002299.4(LCT):c.1149T>G (p.Pro383=)not provided [RCV002179042]likely benign2135817899135817899Humanname
152096439CV1583550single nucleotide variantNM_002299.4(LCT):c.1569G>A (p.Ala523=)not provided [RCV002132695]likely benign2135817479135817479Humanname
152097331CV1587096single nucleotide variantNM_002299.4(LCT):c.2751G>A (p.Gln917=)not provided [RCV002078527]likely benign2135809596135809596Humanname
152123458CV1587254single nucleotide variantNM_002299.4(LCT):c.1788C>T (p.His596=)not provided [RCV002136009]likely benign2135812876135812876Humanname
152173306CV1589883single nucleotide variantNM_002299.4(LCT):c.1053G>A (p.Thr351=)not provided [RCV002184131]likely benign2135817995135817995Humanname
152039187CV1592696single nucleotide variantNM_002299.4(LCT):c.2187C>G (p.Pro729=)not provided [RCV002187996]likely benign2135812477135812477Humanname
152088891CV1603335single nucleotide variantNM_002299.4(LCT):c.1992C>T (p.Pro664=)not provided [RCV002077434]likely benign2135812672135812672Humanname
152109090CV1623562single nucleotide variantNM_002299.4(LCT):c.2079C>T (p.Asn693=)not provided [RCV002215227]likely benign2135812585135812585Humanname
152032605CV1629461single nucleotide variantNM_002299.4(LCT):c.2436C>T (p.Ser812=)not provided [RCV002106398]likely benign2135809911135809911Humanname
152112636CV1640631single nucleotide variantNM_002299.4(LCT):c.1254C>T (p.Asn418=)not provided [RCV002174526]likely benign2135817794135817794Humanname
152094342CV1648353single nucleotide variantNM_002299.4(LCT):c.1014G>A (p.Leu338=)not provided [RCV002114499]likely benign2135818034135818034Humanname
152054851CV1648608single nucleotide variantNM_002299.4(LCT):c.1629G>A (p.Pro543=)not provided [RCV002072806]likely benign2135817419135817419Humanname
152089901CV1654749single nucleotide variantNM_002299.4(LCT):c.2592C>T (p.Pro864=)not provided [RCV002212581]likely benign2135809755135809755Humanname
156212131CV1909827single nucleotide variantNM_002299.4(LCT):c.2700C>T (p.His900=)not provided [RCV002596105]likely benign2135809647135809647Humanname
156407965CV1911397single nucleotide variantNM_002299.4(LCT):c.1188C>T (p.Asn396=)not provided [RCV002607067]likely benign2135817860135817860Humanname
156377270CV1913888single nucleotide variantNM_002299.4(LCT):c.1272G>A (p.Ala424=)not provided [RCV002603686]likely benign2135817776135817776Humanname
156186156CV1919197single nucleotide variantNM_002299.4(LCT):c.2730C>T (p.Gly910=)not provided [RCV002595223]likely benign2135809617135809617Humanname
156032778CV1921205single nucleotide variantNM_002299.4(LCT):c.1917A>C (p.Gly639=)not provided [RCV002619925]likely benign2135812747135812747Humanname
156442550CV1938777single nucleotide variantNM_002299.4(LCT):c.1752C>T (p.His584=)not provided [RCV003112896]likely benign2135812912135812912Humanname
156281232CV1964392single nucleotide variantNM_002299.4(LCT):c.218C>T (p.Pro73Leu)not provided [RCV002577484]uncertain significance2135836952135836952Humanname
156072196CV1971957single nucleotide variantNM_002299.4(LCT):c.2553G>A (p.Gly851=)not provided [RCV002591305]likely benign2135809794135809794Humanname
156411723CV1972612single nucleotide variantNM_002299.4(LCT):c.1224G>A (p.Val408=)not provided [RCV002587583]likely benign2135817824135817824Humanname
156236231CV1972995single nucleotide variantNM_002299.4(LCT):c.2100C>A (p.Ile700=)not provided [RCV002596989]likely benign2135812564135812564Humanname
156321715CV1976150single nucleotide variantNM_002299.4(LCT):c.1221G>A (p.Gly407=)not provided [RCV002600275]likely benign2135817827135817827Humanname
155970593CV1978258single nucleotide variantNM_002299.4(LCT):c.1281G>A (p.Glu427=)not provided [RCV002617162]likely benign2135817767135817767Humanname
156264118CV1993806single nucleotide variantNM_002299.4(LCT):c.2247A>G (p.Pro749=)not provided [RCV002646315]likely benign2135812417135812417Humanname
156406039CV2004577single nucleotide variantNM_002299.4(LCT):c.182T>C (p.Met61Thr)not provided [RCV002658457]uncertain significance2135836988135836988Humanname
156015178CV2010085single nucleotide variantNM_002299.4(LCT):c.2847A>T (p.Gly949=)not provided [RCV002735101]likely benign2135809500135809500Humanname
155978994CV2028677single nucleotide variantNM_002299.4(LCT):c.2415C>T (p.Phe805=)not provided [RCV002755237]likely benign2135809932135809932Humanname
155926436CV2070853single nucleotide variantNM_002299.4(LCT):c.2475C>T (p.Ser825=)not provided [RCV002838550]likely benign2135809872135809872Humanname
155959056CV2087194single nucleotide variantNM_002299.4(LCT):c.2679C>T (p.Phe893=)not provided [RCV002862768]likely benign2135809668135809668Humanname
156211905CV2087257single nucleotide variantNM_002299.4(LCT):c.2979C>T (p.Asn993=)not provided [RCV002852859]likely benign2135809368135809368Humanname
156163349CV2096984single nucleotide variantNM_002299.4(LCT):c.1608G>A (p.Leu536=)not provided [RCV002872743]likely benign2135817440135817440Humanname
156252509CV2098108single nucleotide variantNM_002299.4(LCT):c.2469C>T (p.Ser823=)not provided [RCV002895312]likely benign2135809878135809878Humanname
156387450CV2122108single nucleotide variantNM_002299.4(LCT):c.130A>G (p.Ser44Gly)not provided [RCV002943595]uncertain significance2135837040135837040Humanname
156195784CV2158864deletionNM_002299.4(LCT):c.391del (p.Leu131fs)not provided [RCV003041798]pathogenic2135836779135836779Humanname
156078958CV2173683single nucleotide variantNM_002299.4(LCT):c.2733G>A (p.Val911=)not provided [RCV003053961]likely benign2135809614135809614Humanname
156319854CV2182514single nucleotide variantNM_002299.4(LCT):c.1419C>T (p.Gly473=)not provided [RCV003046528]likely benign2135817629135817629Humanname
11579682CV281878single nucleotide variantNM_002299.4(LCT):c.2883C>T (p.Ala961=)Congenital lactase deficiency [RCV000362588]|LCT-related disorder [RCV003910277]|Lactose intolerance [RCV000309819]|not provided [RCV001523430]benign|likely benign|uncertain significance2135809464135809464Human3name , trait , alternate_id
11577923CV281882single nucleotide variantNM_002299.4(LCT):c.2763G>A (p.Ala921=)Congenital lactase deficiency [RCV000323093]|Lactose intolerance [RCV000270319]|not provided [RCV000953444]benign|uncertain significance2135809584135809584Human6name
11577923CV281882single nucleotide variantNM_002299.4(LCT):c.2763G>A (p.Ala921=)Congenital lactase deficiency [RCV000323093]|Lactose intolerance [RCV000270319]|not provided [RCV000953444]benign|uncertain significance2135809584135809585Human6name
11581305CV281883single nucleotide variantNM_002299.4(LCT):c.1461G>A (p.Ala487=)Congenital lactase deficiency [RCV000364638]|Lactose intolerance [RCV000406168]|not provided [RCV001519714]benign|uncertain significance2135817587135817587Human3name
11581017CV282514single nucleotide variantNM_002299.4(LCT):c.1902C>T (p.Pro634=)Congenital lactase deficiency [RCV000392713]|LCT-related disorder [RCV003940326]|Lactose intolerance [RCV000352385]|not provided [RCV002057574]likely benign|uncertain significance2135812762135812762Human3name , trait , alternate_id
11579694CV284165single nucleotide variantNM_002299.4(LCT):c.1650C>G (p.Gly550=)Congenital lactase deficiency [RCV000392710]|Lactose intolerance [RCV000310026]|not provided [RCV001522566]benign|likely benign2135817398135817398Human3name
11579362CV284166single nucleotide variantNM_002299.4(LCT):c.1419C>A (p.Gly473=)Congenital lactase deficiency [RCV000361032]|Lactose intolerance [RCV000301721]|not provided [RCV001511197]|not specified [RCV001529740]benign2135817629135817629Human3name
11577648CV284384single nucleotide variantNM_002299.4(LCT):c.2760C>T (p.Gly920=)Congenital lactase deficiency [RCV000361518]|Lactose intolerance [RCV000264499]|not provided [RCV000899114]benign|uncertain significance2135809587135809587Human3name
11578473CV284388single nucleotide variantNM_002299.4(LCT):c.2457C>T (p.His819=)Congenital lactase deficiency [RCV000316257]|Lactose intolerance [RCV000282064]|not provided [RCV001512087]benign|uncertain significance2135809890135809890Human3name
405166305CV2857579single nucleotide variantNM_002299.4(LCT):c.1614G>C (p.Val538=)not provided [RCV003541813]likely benign2135817434135817434Humanname
402511973CV2859475single nucleotide variantNM_002299.4(LCT):c.1791G>T (p.Val597=)not provided [RCV003575180]likely benign2135812873135812873Humanname
402489862CV2867054single nucleotide variantNM_002299.4(LCT):c.1872G>A (p.Leu624=)not provided [RCV003544843]likely benign2135812792135812792Humanname
405219595CV2870189single nucleotide variantNM_002299.4(LCT):c.2449C>T (p.Leu817=)not provided [RCV003553680]likely benign2135809898135809898Humanname
402499092CV2871960single nucleotide variantNM_002299.4(LCT):c.1623T>C (p.His541=)not provided [RCV003545718]likely benign2135817425135817425Humanname
405191960CV2872092single nucleotide variantNM_002299.4(LCT):c.2440C>A (p.Arg814=)not provided [RCV003550483]likely benign2135809907135809907Humanname
405150497CV2888411single nucleotide variantNM_002299.4(LCT):c.2910G>A (p.Lys970=)not provided [RCV003561697]likely benign2135809437135809437Humanname
402496958CV2896019single nucleotide variantNM_002299.4(LCT):c.2221C>T (p.Leu741=)not provided [RCV003573599]likely benign2135812443135812443Humanname
405031046CV2922408single nucleotide variantNM_002299.4(LCT):c.2763G>C (p.Ala921=)not provided [RCV003578363]likely benign2135809584135809584Humanname
405068623CV2924064single nucleotide variantNM_002299.4(LCT):c.1512G>A (p.Leu504=)not provided [RCV003580980]likely benign2135817536135817536Humanname
405079704CV2945499single nucleotide variantNM_002299.4(LCT):c.1257C>T (p.Thr419=)not provided [RCV003664499]likely benign2135817791135817791Humanname
402505515CV2947622single nucleotide variantNM_002299.4(LCT):c.1849C>T (p.Leu617=)not provided [RCV003662020]likely benign2135812815135812815Humanname
405139538CV2970387single nucleotide variantNM_002299.4(LCT):c.2091C>T (p.Asn697=)not provided [RCV003669077]likely benign2135812573135812573Humanname
405236391CV2973275single nucleotide variantNM_002299.4(LCT):c.2556A>G (p.Ala852=)not provided [RCV003683082]likely benign2135809791135809791Humanname
405202488CV2989030single nucleotide variantNM_002299.4(LCT):c.2682A>G (p.Glu894=)not provided [RCV003678266]likely benign2135809665135809665Humanname
402508931CV2998343single nucleotide variantNM_002299.4(LCT):c.1995G>A (p.Glu665=)not provided [RCV003689351]likely benign2135812669135812669Humanname
405169216CV3029192single nucleotide variantNM_002299.4(LCT):c.2772C>A (p.Ala924=)not provided [RCV003704549]likely benign2135809575135809575Humanname
402502502CV3032484single nucleotide variantNM_002299.4(LCT):c.2856C>T (p.Ala952=)not provided [RCV003714888]likely benign2135809491135809491Humanname
405242533CV3042867single nucleotide variantNM_002299.4(LCT):c.2025A>G (p.Lys675=)not provided [RCV003719516]likely benign2135812639135812639Humanname
405177627CV3049476single nucleotide variantNM_002299.4(LCT):c.2433C>T (p.Tyr811=)not provided [RCV003728410]likely benign2135809914135809914Humanname
405241444CV3061057single nucleotide variantNM_002299.4(LCT):c.2136C>T (p.His712=)not provided [RCV003737299]likely benign2135812528135812528Humanname
405149225CV3063523single nucleotide variantNM_002299.4(LCT):c.1542C>T (p.Ser514=)not provided [RCV003726294]likely benign2135817506135817506Humanname
405228381CV3069664single nucleotide variantNM_002299.4(LCT):c.1659C>T (p.Thr553=)not provided [RCV003734330]likely benign2135817389135817389Humanname
405180880CV3119897single nucleotide variantNM_002299.4(LCT):c.1332C>T (p.Cys444=)LCT-related disorder [RCV003893441]|not provided [RCV003819990]likely benign2135817716135817716Human1name , trait , alternate_id
405134858CV3133944single nucleotide variantNM_002299.4(LCT):c.2544C>T (p.Leu848=)not provided [RCV003838723]likely benign2135809803135809803Humanname
405226188CV3142484single nucleotide variantNM_002299.4(LCT):c.1350G>A (p.Val450=)not provided [RCV003848023]likely benign2135817698135817698Humanname
405227644CV3142866single nucleotide variantNM_002299.4(LCT):c.2067C>T (p.Arg689=)not provided [RCV003848209]likely benign2135812597135812597Humanname
405148086CV3152157single nucleotide variantNM_002299.4(LCT):c.1674C>T (p.Pro558=)not provided [RCV003856128]likely benign2135817374135817374Humanname
405231328CV3157380single nucleotide variantNM_002299.4(LCT):c.1812C>T (p.Asp604=)not provided [RCV003865330]likely benign2135812852135812852Humanname
405157506CV3163569single nucleotide variantNM_002299.4(LCT):c.1683T>G (p.Ser561=)LCT-related disorder [RCV003966721]|not provided [RCV003856815]likely benign2135817365135817365Human1name , trait , alternate_id
405204270CV3165519single nucleotide variantNM_002299.4(LCT):c.1791G>A (p.Val597=)not provided [RCV003861185]likely benign2135812873135812873Humanname
402486768CV3181839single nucleotide variantNM_002299.4(LCT):c.1533G>A (p.Gln511=)not provided [RCV003876508]likely benign2135817515135817515Humanname
402492851CV3182639single nucleotide variantNM_002299.4(LCT):c.2430T>C (p.Gly810=)not provided [RCV003877126]likely benign2135809917135809917Humanname
405293922CV3203265single nucleotide variantNM_002299.4(LCT):c.2772C>T (p.Ala924=)LCT-related disorder [RCV003933826]likely benign2135809575135809575Humanname , trait , alternate_id
407491488CV3452563single nucleotide variantNM_002299.4(LCT):c.212T>A (p.Phe71Tyr)Inborn genetic diseases [RCV004642230]|not provided [RCV005059679]uncertain significance2135836958135836958Human1name
597914543CV3740645single nucleotide variantNM_002299.4(LCT):c.2577T>C (p.Asn859=)not provided [RCV005073982]likely benign2135809770135809770Humanname
597929392CV3742073single nucleotide variantNM_002299.4(LCT):c.2052G>A (p.Ser684=)not provided [RCV005075705]likely benign2135812612135812612Humanname
597894834CV3744125single nucleotide variantNM_002299.4(LCT):c.1392G>T (p.Gly464=)not provided [RCV005071595]likely benign2135817656135817656Humanname
597862289CV3745186single nucleotide variantNM_002299.4(LCT):c.1275G>C (p.Thr425=)not provided [RCV005067542]likely benign2135817773135817773Humanname
597928399CV3749131single nucleotide variantNM_002299.4(LCT):c.1785G>A (p.Gly595=)not provided [RCV005075587]likely benign2135812879135812879Humanname
597918951CV3764915single nucleotide variantNM_002299.4(LCT):c.1356G>A (p.Lys452=)not provided [RCV005114930]likely benign2135817692135817692Humanname
597862191CV3766462single nucleotide variantNM_002299.4(LCT):c.1899C>T (p.His633=)not provided [RCV005106187]likely benign2135812765135812765Humanname
597945174CV3776797single nucleotide variantNM_002299.4(LCT):c.1809A>C (p.Ser603=)not provided [RCV005119653]likely benign2135812855135812855Humanname
597906411CV3785177single nucleotide variantNM_002299.4(LCT):c.2256T>G (p.Leu752=)not provided [RCV005128020]likely benign2135812408135812408Humanname
597883425CV3799492single nucleotide variantNM_002299.4(LCT):c.1134G>T (p.Leu378=)not provided [RCV005150159]likely benign2135817914135817914Humanname
597869362CV3803475single nucleotide variantNM_002299.4(LCT):c.1395C>T (p.His465=)not provided [RCV005148072]likely benign2135817653135817653Humanname
597902954CV3804475single nucleotide variantNM_002299.4(LCT):c.1132C>T (p.Leu378=)not provided [RCV005152910]likely benign2135817916135817916Humanname
597936886CV3807735single nucleotide variantNM_002299.4(LCT):c.2307C>T (p.Ser769=)not provided [RCV005158114]likely benign2135812357135812357Humanname
597943391CV3812301single nucleotide variantNM_002299.4(LCT):c.2637G>A (p.Lys879=)not provided [RCV005159511]likely benign2135809710135809710Humanname
597966599CV3823829single nucleotide variantNM_002299.4(LCT):c.1290C>T (p.Ser430=)not provided [RCV005165249]likely benign2135817758135817758Humanname
597965272CV3826848single nucleotide variantNM_002299.4(LCT):c.2703G>A (p.Gly901=)not provided [RCV005164877]likely benign2135809644135809644Humanname
597961477CV3840743single nucleotide variantNM_002299.4(LCT):c.1317C>T (p.Asp439=)not provided [RCV005193036]likely benign2135817731135817731Humanname
597935448CV3845242single nucleotide variantNM_002299.4(LCT):c.1275G>A (p.Thr425=)not provided [RCV005186555]likely benign2135817773135817773Humanname
597950943CV3847065single nucleotide variantNM_002299.4(LCT):c.2259C>T (p.Ala753=)not provided [RCV005190237]likely benign2135812405135812405Humanname
597944791CV3847971single nucleotide variantNM_002299.4(LCT):c.1569G>C (p.Ala523=)not provided [RCV005188701]likely benign2135817479135817479Humanname
597949361CV3848897single nucleotide variantNM_002299.4(LCT):c.2580A>G (p.Thr860=)not provided [RCV005189835]likely benign2135809767135809767Humanname
597859610CV3850353single nucleotide variantNM_002299.4(LCT):c.2073C>A (p.Ile691=)not provided [RCV005195686]likely benign2135812591135812591Humanname
597918960CV3861628single nucleotide variantNM_002299.4(LCT):c.181A>T (p.Met61Leu)not provided [RCV005204784]uncertain significance2135836989135836989Humanname
15162895CV732767single nucleotide variantNM_002299.4(LCT):c.2706G>A (p.Thr902=)Inborn genetic diseases [RCV004986685]|LCT-related disorder [RCV003923019]|not provided [RCV000903655]benign|likely benign2135809641135809641Human2name , trait , alternate_id
15128154CV732768single nucleotide variantNM_002299.4(LCT):c.1206C>T (p.Ala402=)not provided [RCV000897223]benign2135817842135817842Humanname
15165554CV732769single nucleotide variantNM_002299.4(LCT):c.1113G>A (p.Arg371=)Congenital lactase deficiency [RCV001130289]|LCT-related disorder [RCV003932880]|not provided [RCV000904247]likely benign|uncertain significance2135817935135817935Human1name , trait , alternate_id
28869838CV881086single nucleotide variantNM_002299.4(LCT):c.2898C>A (p.Leu966=)Congenital lactase deficiency [RCV001130860]|not provided [RCV002070526]likely benign|uncertain significance2135809449135809449Human1name
28875251CV881088single nucleotide variantNM_002299.4(LCT):c.2718C>T (p.Asp906=)Congenital lactase deficiency [RCV001133830]uncertain significance2135809629135809629Human1name
28875256CV881090single nucleotide variantNM_002299.4(LCT):c.2349C>T (p.Leu783=)Congenital lactase deficiency [RCV001133832]uncertain significance2135812315135812315Human1name
28878853CV881094single nucleotide variantNM_002299.4(LCT):c.1617C>T (p.Thr539=)Congenital lactase deficiency [RCV001135327]|not provided [RCV002070580]benign|likely benign2135817431135817431Human1name
28868888CV881095single nucleotide variantNM_002299.4(LCT):c.1539G>A (p.Glu513=)Congenital lactase deficiency [RCV001130286]|not provided [RCV001520844]benign|likely benign|uncertain significance2135817509135817509Human1name
28868891CV881096single nucleotide variantNM_002299.4(LCT):c.1116G>A (p.Ala372=)Congenital lactase deficiency [RCV001130288]|not provided [RCV002558273]likely benign|uncertain significance2135817932135817932Human1name
28875512CV881101single nucleotide variantNM_002299.4(LCT):c.280G>A (p.Ala94Thr)Congenital lactase deficiency [RCV001133949]|not provided [RCV002556869]uncertain significance2135836890135836890Human1name
28879204CV881102single nucleotide variantNM_002299.4(LCT):c.122A>C (p.His41Pro)Congenital lactase deficiency [RCV001135456]uncertain significance2135837048135837048Human1name
127249452CV1067816single nucleotide variantNM_002299.4(LCT):c.5037G>A (p.Gly1679=)not provided [RCV001399602]likely benign2135794715135794715Humanname
127278253CV1067817single nucleotide variantNM_002299.4(LCT):c.4419C>T (p.Tyr1473=)not provided [RCV001408378]likely benign2135804812135804812Humanname
127262663CV1067818single nucleotide variantNM_002299.4(LCT):c.4125A>T (p.Gly1375=)not provided [RCV001402703]likely benign2135807176135807176Humanname
127243046CV1067819single nucleotide variantNM_002299.4(LCT):c.3747G>T (p.Ala1249=)not provided [RCV001416055]likely benign2135808600135808600Humanname
127274726CV1089543single nucleotide variantNM_002299.4(LCT):c.4746C>T (p.Tyr1582=)not provided [RCV001442957]likely benign2135800727135800727Humanname
127321641CV1131954single nucleotide variantNM_002299.4(LCT):c.5724C>A (p.Arg1908=)not provided [RCV001504813]likely benign2135788384135788384Humanname
127299429CV1131955single nucleotide variantNM_002299.4(LCT):c.4104G>A (p.Arg1368=)not provided [RCV001498297]likely benign2135807197135807197Humanname
127312181CV1131956single nucleotide variantNM_002299.4(LCT):c.3426C>T (p.Ala1142=)not provided [RCV001501836]likely benign2135808921135808921Humanname
127314299CV1153799single nucleotide variantNM_002299.4(LCT):c.569C>T (p.Ser190Leu)not provided [RCV001519563]benign2135836601135836601Humanname
151830477CV1345231single nucleotide variantNM_002299.4(LCT):c.935T>C (p.Ile312Thr)Inborn genetic diseases [RCV002545860]|not provided [RCV001870484]uncertain significance2135822071135822071Human1name
151825440CV1350685single nucleotide variantNM_002299.4(LCT):c.433G>A (p.Glu145Lys)Inborn genetic diseases [RCV002555238]|not provided [RCV001901284]uncertain significance2135836737135836737Human1name
151846090CV1353643single nucleotide variantNM_002299.4(LCT):c.412G>A (p.Ala138Thr)not provided [RCV001957346]uncertain significance2135836758135836758Humanname
151812617CV1359655single nucleotide variantNM_002299.4(LCT):c.710C>T (p.Ala237Val)not provided [RCV001991977]uncertain significance2135833121135833121Humanname
151816438CV1378953single nucleotide variantNM_002299.4(LCT):c.919G>A (p.Asp307Asn)Inborn genetic diseases [RCV002552121]|not provided [RCV001900458]uncertain significance2135822087135822087Human1name
151844133CV1381354single nucleotide variantNM_002299.4(LCT):c.5016C>T (p.Asn1672=)not provided [RCV001881724]likely benign2135794736135794736Humanname
151743862CV1398206single nucleotide variantNM_002299.4(LCT):c.782G>A (p.Arg261Gln)not provided [RCV002042512]uncertain significance2135829615135829615Humanname
151831403CV1426632single nucleotide variantNM_002299.4(LCT):c.318C>G (p.Asp106Glu)Inborn genetic diseases [RCV003250372]|not provided [RCV001976688]uncertain significance2135836852135836852Human1name
151883162CV1443399single nucleotide variantNM_002299.4(LCT):c.621C>A (p.His207Gln)not provided [RCV002037286]uncertain significance2135836549135836549Humanname
151824920CV1456578single nucleotide variantNM_002299.4(LCT):c.809T>C (p.Ile270Thr)not provided [RCV002050161]uncertain significance2135823999135823999Humanname
151772447CV1458438single nucleotide variantNM_002299.4(LCT):c.487G>A (p.Gly163Arg)not provided [RCV002025489]uncertain significance2135836683135836683Humanname
151823458CV1466286single nucleotide variantNM_002299.4(LCT):c.383T>C (p.Met128Thr)not provided [RCV001879439]uncertain significance2135836787135836787Humanname
151870574CV1466531single nucleotide variantNM_002299.4(LCT):c.948T>G (p.Ile316Met)not provided [RCV001906423]uncertain significance2135822058135822058Humanname
151877377CV1480941single nucleotide variantNM_002299.4(LCT):c.341G>A (p.Arg114Gln)not provided [RCV001982073]uncertain significance2135836829135836829Humanname
151803739CV1492046single nucleotide variantNM_002299.4(LCT):c.473C>T (p.Ala158Val)not provided [RCV002048215]uncertain significance2135836697135836697Humanname
151761787CV1496489single nucleotide variantNM_002299.4(LCT):c.425G>A (p.Arg142Gln)not provided [RCV001895410]uncertain significance2135836745135836745Humanname
151864423CV1498750single nucleotide variantNM_002299.4(LCT):c.396C>G (p.His132Gln)not provided [RCV001980541]uncertain significance2135836774135836774Humanname
151745160CV1507586single nucleotide variantNM_002299.4(LCT):c.847C>T (p.Leu283Phe)not provided [RCV001985649]uncertain significance2135823961135823961Humanname
152025741CV1527945single nucleotide variantNM_002299.4(LCT):c.5664T>C (p.Phe1888=)not provided [RCV002084564]likely benign2135788444135788444Humanname
152169835CV1529377single nucleotide variantNM_002299.4(LCT):c.5007G>A (p.Arg1669=)not provided [RCV002161573]likely benign2135794745135794745Humanname
152095880CV1534140single nucleotide variantNM_002299.4(LCT):c.3672C>A (p.Pro1224=)not provided [RCV002151198]likely benign2135808675135808675Humanname
152042671CV1538039single nucleotide variantNM_002299.4(LCT):c.3018C>A (p.Gly1006=)not provided [RCV002165893]likely benign2135809329135809329Humanname
152173405CV1539403single nucleotide variantNM_002299.4(LCT):c.3747G>A (p.Ala1249=)not provided [RCV002162799]likely benign2135808600135808600Humanname
152033186CV1542624single nucleotide variantNM_002299.4(LCT):c.5250T>C (p.Asn1750=)not provided [RCV002106520]likely benign2135790743135790743Humanname
152033953CV1542808single nucleotide variantNM_002299.4(LCT):c.3930T>C (p.Leu1310=)not provided [RCV002106661]likely benign2135807371135807371Humanname
152110181CV1551085single nucleotide variantNM_002299.4(LCT):c.3135C>T (p.Tyr1045=)not provided [RCV002152948]likely benign2135809212135809212Humanname
152125341CV1554043single nucleotide variantNM_002299.4(LCT):c.3816C>T (p.Thr1272=)not provided [RCV002098739]likely benign2135808531135808531Humanname
152077362CV1564666single nucleotide variantNM_002299.4(LCT):c.3624G>A (p.Thr1208=)not provided [RCV002192591]likely benign2135808723135808723Humanname
152083192CV1565210single nucleotide variantNM_002299.4(LCT):c.4449C>T (p.Ala1483=)not provided [RCV002093124]likely benign2135804782135804782Humanname
152029595CV1568556single nucleotide variantNM_002299.4(LCT):c.5484G>A (p.Ala1828=)not provided [RCV002186217]likely benign2135789650135789650Humanname
152103413CV1569473single nucleotide variantNM_002299.4(LCT):c.3105T>C (p.Asn1035=)not provided [RCV002115643]likely benign2135809242135809242Humanname
152105858CV1572621single nucleotide variantNM_002299.4(LCT):c.3081C>G (p.Leu1027=)not provided [RCV002152388]likely benign2135809266135809266Humanname
152068436CV1573714single nucleotide variantNM_002299.4(LCT):c.3363G>T (p.Ser1121=)not provided [RCV002147745]likely benign2135808984135808984Humanname
152153110CV1579240single nucleotide variantNM_002299.4(LCT):c.5589G>C (p.Val1863=)not provided [RCV002158484]likely benign2135788519135788519Humanname
152141400CV1583241single nucleotide variantNM_002299.4(LCT):c.5769G>A (p.Pro1923=)not provided [RCV002120423]likely benign2135788339135788339Humanname
152129082CV1584248single nucleotide variantNM_002299.4(LCT):c.3552C>A (p.Ser1184=)not provided [RCV002082620]likely benign2135808795135808795Humanname
152069903CV1589275single nucleotide variantNM_002299.4(LCT):c.5505C>T (p.Val1835=)not provided [RCV002209841]likely benign2135789629135789629Humanname
152153219CV1592025single nucleotide variantNM_002299.4(LCT):c.3102G>A (p.Glu1034=)not provided [RCV002102554]likely benign2135809245135809245Humanname
152096804CV1597544single nucleotide variantNM_002299.4(LCT):c.4932G>A (p.Thr1644=)not provided [RCV002114801]likely benign2135798073135798073Humanname
152053019CV1607326single nucleotide variantNM_002299.4(LCT):c.3600G>A (p.Thr1200=)not provided [RCV002109213]likely benign2135808747135808747Humanname
152141134CV1619743single nucleotide variantNM_002299.4(LCT):c.4086C>T (p.Asn1362=)not provided [RCV002200590]likely benign2135807215135807215Humanname
152155789CV1620643single nucleotide variantNM_002299.4(LCT):c.3678C>T (p.Tyr1226=)not provided [RCV002122396]likely benign2135808669135808669Humanname
152077393CV1632877single nucleotide variantNM_002299.4(LCT):c.5586C>T (p.Pro1862=)not provided [RCV002170104]likely benign2135788522135788522Humanname
152070985CV1638697single nucleotide variantNM_002299.4(LCT):c.3738C>T (p.Asn1246=)not provided [RCV002075099]likely benign2135808609135808609Humanname
152172767CV1641727single nucleotide variantNM_002299.4(LCT):c.5739A>G (p.Lys1913=)not provided [RCV002183952]benign2135788369135788369Humanname
152085188CV1642515single nucleotide variantNM_002299.4(LCT):c.5619A>G (p.Leu1873=)not provided [RCV002193541]likely benign2135788489135788489Humanname
152102485CV1646820single nucleotide variantNM_002299.4(LCT):c.3282C>A (p.Ala1094=)not provided [RCV002151976]likely benign2135809065135809065Humanname
152058175CV1651969single nucleotide variantNM_002299.4(LCT):c.5346C>T (p.Asp1782=)LCT-related disorder [RCV003950921]|not provided [RCV002190217]likely benign2135789788135789788Human1name , trait , alternate_id
152142736CV1654434single nucleotide variantNM_002299.4(LCT):c.5280C>T (p.Leu1760=)not provided [RCV002200786]likely benign2135790713135790713Humanname
152138228CV1657803single nucleotide variantNM_002299.4(LCT):c.5673G>A (p.Val1891=)not provided [RCV002177704]likely benign2135788435135788435Humanname
152151780CV1658910single nucleotide variantNM_002299.4(LCT):c.4647C>T (p.Tyr1549=)not provided [RCV002139626]likely benign2135803946135803946Humanname
152131844CV1660418single nucleotide variantNM_002299.4(LCT):c.5028C>T (p.Asp1676=)not provided [RCV002176903]likely benign2135794724135794724Humanname
152084745CV1663085single nucleotide variantNM_002299.4(LCT):c.4164T>G (p.Ala1388=)not provided [RCV002171013]likely benign2135807137135807137Humanname
152066335CV1664123single nucleotide variantNM_002299.4(LCT):c.3282C>T (p.Ala1094=)not provided [RCV002074502]likely benign2135809065135809065Humanname
156384785CV1883588single nucleotide variantNM_002299.4(LCT):c.3363G>A (p.Ser1121=)not provided [RCV003093582]likely benign2135808984135808984Humanname
156368637CV1887779single nucleotide variantNM_002299.4(LCT):c.4053C>T (p.Ser1351=)not provided [RCV003092245]likely benign2135807248135807248Humanname
156306774CV1898700single nucleotide variantNM_002299.4(LCT):c.781C>T (p.Arg261Trp)Inborn genetic diseases [RCV004073110]|not provided [RCV003088218]uncertain significance2135829616135829616Human1name
155959765CV1900241single nucleotide variantNM_002299.4(LCT):c.5175G>A (p.Thr1725=)not provided [RCV003095782]likely benign2135790818135790818Humanname
156210310CV1909705single nucleotide variantNM_002299.4(LCT):c.4749C>T (p.Asn1583=)not provided [RCV002596037]likely benign2135800724135800724Humanname
156021105CV1911443single nucleotide variantNM_002299.4(LCT):c.3060T>C (p.His1020=)not provided [RCV002636712]likely benign2135809287135809287Humanname
155958610CV1911923single nucleotide variantNM_002299.4(LCT):c.5625C>T (p.Leu1875=)not provided [RCV002616618]likely benign2135788483135788483Humanname
156417360CV1913387single nucleotide variantNM_002299.4(LCT):c.4500C>G (p.Leu1500=)not provided [RCV002610676]likely benign2135804093135804093Humanname
156301101CV1916100single nucleotide variantNM_002299.4(LCT):c.566C>T (p.Ala189Val)not provided [RCV002599175]uncertain significance2135836604135836604Humanname
156418670CV1922473single nucleotide variantNM_002299.4(LCT):c.914A>G (p.Asn305Ser)Inborn genetic diseases [RCV002611871]|not provided [RCV002611870]uncertain significance2135822092135822092Human1name
156065138CV1927802single nucleotide variantNM_002299.4(LCT):c.5544C>T (p.His1848=)not provided [RCV002638416]likely benign2135789590135789590Humanname
156449248CV1944512single nucleotide variantNM_002299.4(LCT):c.3849G>A (p.Thr1283=)not provided [RCV003121363]likely benign2135808498135808498Humanname
156442737CV1948845single nucleotide variantNM_002299.4(LCT):c.5382G>A (p.Ala1794=)not provided [RCV003113089]likely benign2135789752135789752Humanname
156171278CV1956286single nucleotide variantNM_002299.4(LCT):c.3822C>T (p.Asn1274=)not provided [RCV002573818]likely benign2135808525135808525Humanname
156408291CV1957791single nucleotide variantNM_002299.4(LCT):c.3606C>T (p.Asp1202=)not provided [RCV002586476]likely benign2135808741135808741Humanname
156290323CV1961460single nucleotide variantNM_002299.4(LCT):c.5748A>C (p.Arg1916=)not provided [RCV002577803]likely benign2135788360135788360Humanname
156182495CV1963059single nucleotide variantNM_002299.4(LCT):c.4389G>A (p.Arg1463=)not provided [RCV002574158]likely benign2135804842135804842Humanname
156380009CV1968476single nucleotide variantNM_002299.4(LCT):c.4128G>A (p.Arg1376=)not provided [RCV002603898]likely benign2135807173135807173Humanname
156073672CV1969017single nucleotide variantNM_002299.4(LCT):c.3717G>A (p.Ser1239=)not provided [RCV002621321]likely benign2135808630135808630Humanname
156412028CV1969128single nucleotide variantNM_002299.4(LCT):c.3624G>T (p.Thr1208=)not provided [RCV002587682]likely benign2135808723135808723Humanname
156338752CV1973952single nucleotide variantNM_002299.4(LCT):c.3364C>T (p.Leu1122=)not provided [RCV002601168]likely benign2135808983135808983Humanname
156411379CV1976261single nucleotide variantNM_002299.4(LCT):c.4299T>C (p.Ala1433=)not provided [RCV002587471]likely benign2135804932135804932Humanname
156388615CV1996017single nucleotide variantNM_002299.4(LCT):c.925G>A (p.Val309Met)Inborn genetic diseases [RCV004066818]|not provided [RCV002654182]uncertain significance2135822081135822081Human1name
156209112CV2000837single nucleotide variantNM_002299.4(LCT):c.988A>G (p.Met330Val)not provided [RCV002666777]uncertain significance2135818060135818060Humanname
156405803CV2004471single nucleotide variantNM_002299.4(LCT):c.472G>A (p.Ala158Thr)not provided [RCV002658401]uncertain significance2135836698135836698Humanname
156051977CV2006810single nucleotide variantNM_002299.4(LCT):c.604G>T (p.Ala202Ser)not provided [RCV002659396]uncertain significance2135836566135836566Humanname
156287572CV2012905single nucleotide variantNM_002299.4(LCT):c.571C>G (p.Gln191Glu)not provided [RCV002715523]uncertain significance2135836599135836599Humanname
156358105CV2020244single nucleotide variantNM_002299.4(LCT):c.3801C>T (p.Ile1267=)not provided [RCV002720673]likely benign2135808546135808546Humanname
155914236CV2021907single nucleotide variantNM_002299.4(LCT):c.745G>A (p.Asp249Asn)Inborn genetic diseases [RCV002727028]|not provided [RCV002727027]uncertain significance2135829652135829652Human1name
155945355CV2032680single nucleotide variantNM_002299.4(LCT):c.649C>T (p.Leu217Phe)not provided [RCV002730369]uncertain significance2135833182135833182Humanname
156233098CV2039933single nucleotide variantNM_002299.4(LCT):c.683A>G (p.Glu228Gly)not provided [RCV002805389]uncertain significance2135833148135833148Humanname
156015694CV2046628single nucleotide variantNM_002299.4(LCT):c.665G>A (p.Arg222Gln)not provided [RCV002756924]uncertain significance2135833166135833166Humanname
156245074CV2053287single nucleotide variantNM_002299.4(LCT):c.4887A>C (p.Ala1629=)not provided [RCV002791492]likely benign2135798118135798118Humanname
156325363CV2068515single nucleotide variantNM_002299.4(LCT):c.4065C>T (p.Tyr1355=)not provided [RCV002834982]likely benign2135807236135807236Humanname
156150623CV2070248single nucleotide variantNM_002299.4(LCT):c.5187C>T (p.Phe1729=)not provided [RCV002850857]uncertain significance2135790806135790806Humanname
156009429CV2083253single nucleotide variantNM_002299.4(LCT):c.3240C>G (p.Pro1080=)not provided [RCV002866022]likely benign2135809107135809107Humanname
156044733CV2093232single nucleotide variantNM_002299.4(LCT):c.4185G>T (p.Ala1395=)not provided [RCV002867576]likely benign2135805046135805046Humanname
155977655CV2100176single nucleotide variantNM_002299.4(LCT):c.4380A>T (p.Gly1460=)not provided [RCV002881779]likely benign2135804851135804851Humanname
156003465CV2103477single nucleotide variantNM_002299.4(LCT):c.5175G>C (p.Thr1725=)not provided [RCV002908744]uncertain significance2135790818135790818Humanname
156106261CV2108004single nucleotide variantNM_002299.4(LCT):c.553C>T (p.Gln185Ter)not provided [RCV002927235]pathogenic2135836617135836617Humanname
156132638CV2109180single nucleotide variantNM_002299.4(LCT):c.4486C>T (p.Leu1496=)not provided [RCV002914611]likely benign2135804107135804107Humanname
155943230CV2143112single nucleotide variantNM_002299.4(LCT):c.4446C>A (p.Ala1482=)not provided [RCV002994189]likely benign2135804785135804785Humanname
156227234CV2145968single nucleotide variantNM_002299.4(LCT):c.5061C>T (p.Leu1687=)not provided [RCV003025508]likely benign2135794691135794691Humanname
8559427CV21627single nucleotide variantNM_002299.4(LCT):c.804G>C (p.Gln268His)Congenital lactase deficiency [RCV000006966]pathogenic2135829593135829593Human1name
156310378CV2164021single nucleotide variantNM_002299.4(LCT):c.3177T>C (p.Phe1059=)not provided [RCV003045995]likely benign2135809170135809170Humanname
156105122CV2164636single nucleotide variantNM_002299.4(LCT):c.5052C>T (p.Thr1684=)not provided [RCV003038727]likely benign2135794700135794700Humanname
156321779CV2166616single nucleotide variantNM_002299.4(LCT):c.422T>C (p.Leu141Pro)not provided [RCV003029215]uncertain significance2135836748135836748Humanname
156199267CV2169657single nucleotide variantNM_002299.4(LCT):c.869T>C (p.Met290Thr)not provided [RCV003041913]uncertain significance2135823939135823939Humanname
156171628CV2169946single nucleotide variantNM_002299.4(LCT):c.5511C>T (p.Cys1837=)not provided [RCV003023531]likely benign2135789623135789623Humanname
156343070CV2186045single nucleotide variantNM_002299.4(LCT):c.493C>G (p.Leu165Val)not provided [RCV003047850]uncertain significance2135836677135836677Humanname
156045659CV2186428single nucleotide variantNM_002299.4(LCT):c.4341C>T (p.Tyr1447=)not provided [RCV003036731]likely benign2135804890135804890Humanname
156170417CV2296810single nucleotide variantNM_002299.4(LCT):c.443C>G (p.Ala148Gly)Inborn genetic diseases [RCV002891370]uncertain significance2135836727135836727Human1name
156091294CV2300038single nucleotide variantNM_002299.4(LCT):c.689T>C (p.Leu230Pro)Inborn genetic diseases [RCV002869841]uncertain significance2135833142135833142Human1name
155921791CV2340512single nucleotide variantNM_002299.4(LCT):c.457G>A (p.Asp153Asn)Inborn genetic diseases [RCV002969496]uncertain significance2135836713135836713Human1name
329371163CV2461968single nucleotide variantNM_002299.4(LCT):c.658G>A (p.Val220Ile)Inborn genetic diseases [RCV003209652]uncertain significance2135833173135833173Human1name
401936205CV2802838deletionNM_002299.4(LCT):c.2214del (p.Phe738fs)LCT-related disorder [RCV003414182]likely pathogenic2135812450135812450Humanname , trait , alternate_id
11579994CV281847single nucleotide variantNM_002299.4(LCT):c.5529C>T (p.Pro1843=)Congenital lactase deficiency [RCV000319428]|Lactose intolerance [RCV000371800]|not provided [RCV002521288]likely benign|uncertain significance2135789605135789605Human3name
11652330CV281858single nucleotide variantNM_002299.4(LCT):c.4695C>T (p.Tyr1565=)Congenital lactase deficiency [RCV000402802]|Lactose intolerance [RCV000304192]|not provided [RCV005090516]likely benign|uncertain significance2135800778135800778Human3name
11579414CV281859single nucleotide variantNM_002299.4(LCT):c.4606C>T (p.Leu1536=)Congenital lactase deficiency [RCV000303180]|Lactose intolerance [RCV000357102]|not provided [RCV001511196]|not specified [RCV001529341]benign2135803987135803987Human6name
11579414CV281859single nucleotide variantNM_002299.4(LCT):c.4606C>T (p.Leu1536=)Congenital lactase deficiency [RCV000303180]|Lactose intolerance [RCV000357102]|not provided [RCV001511196]|not specified [RCV001529341]benign2135803987135803988Human6name
11580334CV281860single nucleotide variantNM_002299.4(LCT):c.4347T>C (p.Phe1449=)Congenital lactase deficiency [RCV000330316]|LCT-related disorder [RCV003922416]|Lactose intolerance [RCV000387278]|not provided [RCV000952824]benign|uncertain significance2135804884135804884Human3name , trait , alternate_id
11579724CV281872single nucleotide variantNM_002299.4(LCT):c.3285C>T (p.His1095=)Congenital lactase deficiency [RCV000310977]|Lactose intolerance [RCV000392208]|not provided [RCV001484700]likely benign|uncertain significance2135809062135809062Human3name
11581395CV281877single nucleotide variantNM_002299.4(LCT):c.3006G>A (p.Arg1002=)Congenital lactase deficiency [RCV000404670]|LCT-related disorder [RCV003922418]|Lactose intolerance [RCV000368031]|not provided [RCV001511576]benign|uncertain significance2135809341135809341Human3name , trait , alternate_id
11578754CV281884single nucleotide variantNM_002299.4(LCT):c.655G>A (p.Val219Ile)Congenital lactase deficiency [RCV000382944]|Lactose intolerance [RCV000288474]|not provided [RCV001509608]|not specified [RCV001701856]benign2135833176135833176Human3name
11658313CV281888single nucleotide variantNM_002299.4(LCT):c.643G>A (p.Gly215Arg)Congenital lactase deficiency [RCV000348144]|Inborn genetic diseases [RCV002521294]|Lactose intolerance [RCV000383655]|not provided [RCV002521293]uncertain significance2135833188135833188Human4name
11577421CV282508single nucleotide variantNM_002299.4(LCT):c.4576C>T (p.Leu1526=)Congenital lactase deficiency [RCV000259920]|LCT-related disorder [RCV003910275]|Lactose intolerance [RCV000317377]|not provided [RCV000894919]benign|likely benign|uncertain significance2135804017135804017Human3name , trait , alternate_id
11578260CV282509single nucleotide variantNM_002299.4(LCT):c.4434T>C (p.Asp1478=)Congenital lactase deficiency [RCV000388253]|Lactose intolerance [RCV000277663]|not provided [RCV003765915]likely benign|uncertain significance2135804797135804797Human3name
11578406CV284145single nucleotide variantNM_002299.4(LCT):c.5568T>C (p.Ala1856=)Congenital lactase deficiency [RCV000280698]|Lactose intolerance [RCV000378034]|not provided [RCV001511194]|not specified [RCV001528499]benign2135788540135788540Human3name
11578866CV284151single nucleotide variantNM_002299.4(LCT):c.4329C>T (p.Gly1443=)Congenital lactase deficiency [RCV000290653]|Lactose intolerance [RCV000347971]|not provided [RCV001520902]benign2135804902135804902Human3name
11579360CV284152single nucleotide variantNM_002299.4(LCT):c.4122C>T (p.Tyr1374=)Congenital lactase deficiency [RCV000340089]|Lactose intolerance [RCV000301657]|not provided [RCV002057572]benign|uncertain significance2135807179135807179Human3name
11579342CV284154single nucleotide variantNM_002299.4(LCT):c.4026G>A (p.Thr1342=)Congenital lactase deficiency [RCV000301430]|LCT-related disorder [RCV003957705]|Lactose intolerance [RCV000403255]|not provided [RCV000950381]benign|likely benign|uncertain significance2135807275135807275Human3name , trait , alternate_id
11578110CV284157single nucleotide variantNM_002299.4(LCT):c.3759G>A (p.Thr1253=)Congenital lactase deficiency [RCV000274448]|Lactose intolerance [RCV000331835]|not provided [RCV002057573]likely benign|uncertain significance2135808588135808588Human3name
11580528CV284168single nucleotide variantNM_002299.4(LCT):c.454G>A (p.Ala152Thr)Congenital lactase deficiency [RCV000336201]|Lactose intolerance [RCV000403725]|not provided [RCV000967966]benign|likely benign2135836716135836716Human3name
11579341CV284181single nucleotide variantNM_002299.4(LCT):c.319G>A (p.Glu107Lys)Congenital lactase deficiency [RCV000355458]|Lactose intolerance [RCV000301253]|not provided [RCV002521295]uncertain significance2135836851135836851Human3name
11578341CV284373single nucleotide variantNM_002299.4(LCT):c.5493C>T (p.Tyr1831=)Congenital lactase deficiency [RCV000350696]|Lactose intolerance [RCV000279373]|not provided [RCV002057571]likely benign|uncertain significance2135789641135789641Human3name
11578763CV284374single nucleotide variantNM_002299.4(LCT):c.4239A>G (p.Pro1413=)Congenital lactase deficiency [RCV000288789]|Lactose intolerance [RCV000381588]uncertain significance2135804992135804992Human3name
11649196CV284379single nucleotide variantNM_002299.4(LCT):c.3532C>T (p.Leu1178=)Congenital lactase deficiency [RCV000285773]|Lactose intolerance [RCV000343179]|not provided [RCV002521289]likely benign|uncertain significance2135808815135808815Human3name
11648985CV284380single nucleotide variantNM_002299.4(LCT):c.3390G>A (p.Glu1130=)Congenital lactase deficiency [RCV000284711]|Lactose intolerance [RCV000376775]uncertain significance2135808957135808957Human3name
402480861CV2864100single nucleotide variantNM_002299.4(LCT):c.4353C>T (p.Ile1451=)not provided [RCV003544010]likely benign2135804878135804878Humanname
405227920CV2894420single nucleotide variantNM_002299.4(LCT):c.4902G>A (p.Lys1634=)not provided [RCV003554995]likely benign2135798103135798103Humanname
405233149CV2906670single nucleotide variantNM_002299.4(LCT):c.4254C>T (p.Asn1418=)not provided [RCV003555839]likely benign2135804977135804977Humanname
405215519CV2911184single nucleotide variantNM_002299.4(LCT):c.3750C>G (p.Pro1250=)not provided [RCV003567731]likely benign2135808597135808597Humanname
402471714CV2912007single nucleotide variantNM_002299.4(LCT):c.4068A>G (p.Thr1356=)not provided [RCV003570637]likely benign2135807233135807233Humanname
405012710CV2933967single nucleotide variantNM_002299.4(LCT):c.5598G>A (p.Glu1866=)not provided [RCV003576874]likely benign2135788510135788510Humanname
405100268CV2944146single nucleotide variantNM_002299.4(LCT):c.4407C>T (p.Gly1469=)not provided [RCV003665688]likely benign2135804824135804824Humanname
405076403CV2948564single nucleotide variantNM_002299.4(LCT):c.5316C>T (p.Tyr1772=)not provided [RCV003664234]likely benign2135790677135790677Humanname
405123802CV2961543single nucleotide variantNM_002299.4(LCT):c.3345G>A (p.Glu1115=)not provided [RCV003667723]likely benign2135809002135809002Humanname
405184893CV2967643single nucleotide variantNM_002299.4(LCT):c.3672C>G (p.Pro1224=)not provided [RCV003676651]likely benign2135808675135808675Humanname
405129235CV3010750deletionNM_002299.4(LCT):c.2540del (p.Phe847fs)not provided [RCV003701521]pathogenic2135809807135809807Humanname
402490004CV3011661single nucleotide variantNM_002299.4(LCT):c.4563G>C (p.Val1521=)not provided [RCV003687443]likely benign2135804030135804030Humanname
405149068CV3024155single nucleotide variantNM_002299.4(LCT):c.913A>T (p.Asn305Tyr)not provided [RCV003703060]uncertain significance2135822093135822093Humanname
405121957CV3024693single nucleotide variantNM_002299.4(LCT):c.3609C>T (p.Val1203=)not provided [RCV003700852]likely benign2135808738135808738Humanname
405180577CV3027818single nucleotide variantNM_002299.4(LCT):c.5031T>C (p.Phe1677=)not provided [RCV003705488]likely benign2135794721135794721Humanname
405092969CV3045517single nucleotide variantNM_002299.4(LCT):c.3942C>T (p.Val1314=)not provided [RCV003717952]likely benign2135807359135807359Humanname
405080617CV3050183single nucleotide variantNM_002299.4(LCT):c.3543A>G (p.Leu1181=)not provided [RCV003716955]likely benign2135808804135808804Humanname
405254353CV3055170single nucleotide variantNM_002299.4(LCT):c.3831G>A (p.Gly1277=)LCT-related disorder [RCV003948965]|not provided [RCV003722925]likely benign2135808516135808516Human1name , trait , alternate_id
405226116CV3059275single nucleotide variantNM_002299.4(LCT):c.3501C>T (p.Thr1167=)not provided [RCV003734076]likely benign2135808846135808846Humanname
405228127CV3065723single nucleotide variantNM_002299.4(LCT):c.3936G>A (p.Gly1312=)LCT-related disorder [RCV003919356]|not provided [RCV003734415]likely benign2135807365135807365Human1name , trait , alternate_id
405214666CV3066491single nucleotide variantNM_002299.4(LCT):c.5460G>A (p.Leu1820=)not provided [RCV003732476]likely benign2135789674135789674Humanname
405043936CV3074299single nucleotide variantNM_002299.4(LCT):c.730G>A (p.Asp244Asn)not provided [RCV003740125]uncertain significance2135829667135829667Humanname
405245948CV3075648single nucleotide variantNM_002299.4(LCT):c.5304C>T (p.Tyr1768=)not provided [RCV003738601]likely benign2135790689135790689Humanname
405035812CV3130468single nucleotide variantNM_002299.4(LCT):c.3729G>C (p.Thr1243=)not provided [RCV003830875]likely benign2135808618135808618Humanname
405135654CV3130560single nucleotide variantNM_002299.4(LCT):c.413C>G (p.Ala138Gly)not provided [RCV003838793]uncertain significance2135836757135836757Humanname
405086884CV3133989single nucleotide variantNM_002299.4(LCT):c.3708G>A (p.Glu1236=)not provided [RCV003834527]likely benign2135808639135808639Humanname
405041699CV3141164single nucleotide variantNM_002299.4(LCT):c.4368C>T (p.Ile1456=)not provided [RCV003831457]likely benign2135804863135804863Humanname
405171370CV3150008single nucleotide variantNM_002299.4(LCT):c.3324C>T (p.Tyr1108=)not provided [RCV003841479]likely benign2135809023135809023Humanname
405043081CV3154074single nucleotide variantNM_002299.4(LCT):c.4404G>C (p.Ala1468=)not provided [RCV003848942]likely benign2135804827135804827Humanname
404992465CV3176338single nucleotide variantNM_002299.4(LCT):c.5211G>A (p.Lys1737=)not provided [RCV003881770]likely benign2135790782135790782Humanname
405273487CV3192165single nucleotide variantNM_002299.4(LCT):c.4809T>C (p.Ala1603=)LCT-related disorder [RCV003914713]likely benign2135800664135800664Humanname , trait , alternate_id
405817567CV3280046single nucleotide variantNM_002299.4(LCT):c.303C>G (p.Ser101Arg)Inborn genetic diseases [RCV004412553]uncertain significance2135836867135836867Human1name
405817573CV3280052single nucleotide variantNM_002299.4(LCT):c.629A>G (p.Tyr210Cys)Inborn genetic diseases [RCV004412559]uncertain significance2135836541135836541Human1name
597696624CV3698850single nucleotide variantNM_002299.4(LCT):c.622G>A (p.Glu208Lys)Inborn genetic diseases [RCV004986532]uncertain significance2135836548135836548Human1name
597696630CV3698851single nucleotide variantNM_002299.4(LCT):c.491A>G (p.Asp164Gly)Inborn genetic diseases [RCV004986533]uncertain significance2135836679135836679Human1name
597851915CV3737582single nucleotide variantNM_002299.4(LCT):c.3021G>A (p.Leu1007=)not provided [RCV005066355]likely benign2135809326135809326Humanname
597913070CV3740450single nucleotide variantNM_002299.4(LCT):c.4446C>T (p.Ala1482=)not provided [RCV005073787]likely benign2135804785135804785Humanname
597864815CV3742239single nucleotide variantNM_002299.4(LCT):c.4629T>C (p.Ala1543=)not provided [RCV005067855]likely benign2135803964135803964Humanname
597849103CV3746665single nucleotide variantNM_002299.4(LCT):c.4884T>C (p.Phe1628=)not provided [RCV005066062]likely benign2135798121135798121Humanname
597874623CV3747458single nucleotide variantNM_002299.4(LCT):c.928C>T (p.Leu310Phe)not provided [RCV005069142]uncertain significance2135822078135822078Humanname
597970793CV3750158single nucleotide variantNM_002299.4(LCT):c.664C>T (p.Arg222Ter)not provided [RCV005084099]pathogenic2135833167135833167Humanname
597831464CV3750955single nucleotide variantNM_002299.4(LCT):c.4776C>A (p.Gly1592=)not provided [RCV005084699]likely benign2135800697135800697Humanname
597938143CV3760044single nucleotide variantNM_002299.4(LCT):c.5625C>G (p.Leu1875=)not provided [RCV005076968]likely benign2135788483135788483Humanname
597850470CV3761820single nucleotide variantNM_002299.4(LCT):c.5196C>A (p.Ile1732=)not provided [RCV005087916]likely benign2135790797135790797Humanname
597870233CV3768142single nucleotide variantNM_002299.4(LCT):c.3321G>C (p.Thr1107=)not provided [RCV005122521]likely benign2135809026135809026Humanname
597918682CV3768523single nucleotide variantNM_002299.4(LCT):c.979A>T (p.Lys327Ter)not provided [RCV005114886]pathogenic2135822027135822027Humanname
597913514CV3770998single nucleotide variantNM_002299.4(LCT):c.5454T>C (p.Pro1818=)not provided [RCV005114117]likely benign2135789680135789680Humanname
597884245CV3780556single nucleotide variantNM_002299.4(LCT):c.550C>A (p.His184Asn)not provided [RCV005124684]uncertain significance2135836620135836620Humanname
597878839CV3783170single nucleotide variantNM_002299.4(LCT):c.992C>T (p.Ser331Phe)not provided [RCV005123872]uncertain significance2135818056135818056Humanname
597878888CV3783176single nucleotide variantNM_002299.4(LCT):c.3246G>A (p.Gly1082=)not provided [RCV005123878]likely benign2135809101135809101Humanname
597926694CV3783347deletionNM_002299.4(LCT):c.2423del (p.Pro808fs)not provided [RCV005116033]pathogenic2135809924135809924Humanname
597946394CV3790123single nucleotide variantNM_002299.4(LCT):c.4929G>A (p.Lys1643=)not provided [RCV005134824]likely benign2135798076135798076Humanname
597947626CV3800750single nucleotide variantNM_002299.4(LCT):c.709G>A (p.Ala237Thr)not provided [RCV005135150]uncertain significance2135833122135833122Humanname
597916993CV3811094single nucleotide variantNM_002299.4(LCT):c.344G>A (p.Arg115Gln)not provided [RCV005155129]uncertain significance2135836826135836826Humanname
597922508CV3812255single nucleotide variantNM_002299.4(LCT):c.3843G>A (p.Pro1281=)not provided [RCV005155892]likely benign2135808504135808504Humanname
597879787CV3826300single nucleotide variantNM_002299.4(LCT):c.4542G>A (p.Arg1514=)not provided [RCV005177996]likely benign2135804051135804051Humanname
597844770CV3827517duplicationNM_002299.4(LCT):c.2291dup (p.Asn764fs)not provided [RCV005172788]pathogenic2135812372135812373Humanname
597832308CV3830994single nucleotide variantNM_002299.4(LCT):c.4674T>C (p.Asn1558=)not provided [RCV005170391]likely benign2135800799135800799Humanname
597965139CV3848269single nucleotide variantNM_002299.4(LCT):c.3684C>T (p.Asp1228=)not provided [RCV005194149]likely benign2135808663135808663Humanname
597919978CV3851947single nucleotide variantNM_002299.4(LCT):c.3453G>A (p.Leu1151=)not provided [RCV005204927]likely benign2135808894135808894Humanname
597933468CV3858625single nucleotide variantNM_002299.4(LCT):c.5727T>C (p.Ser1909=)not provided [RCV005207095]likely benign2135788381135788381Humanname
598175393CV3984251single nucleotide variantNM_002299.4(LCT):c.581C>T (p.Thr194Ile)Inborn genetic diseases [RCV005371258]uncertain significance2135836589135836589Human1name
598175399CV3984252single nucleotide variantNM_002299.4(LCT):c.479A>G (p.His160Arg)Inborn genetic diseases [RCV005371259]uncertain significance2135836691135836691Human1name
15109523CV719256single nucleotide variantNM_002299.4(LCT):c.3597G>A (p.Ala1199=)Congenital lactase deficiency [RCV001130151]|not provided [RCV000893881]benign|likely benign2135808750135808750Human1name
15152427CV719258single nucleotide variantNM_002299.4(LCT):c.301A>G (p.Ser101Gly)Congenital lactase deficiency [RCV001133948]|not provided [RCV000879804]benign2135836869135836870Human2name
15152427CV719258single nucleotide variantNM_002299.4(LCT):c.301A>G (p.Ser101Gly)Congenital lactase deficiency [RCV001133948]|not provided [RCV000879804]benign2135836869135836869Human2name
15142976CV732766single nucleotide variantNM_002299.4(LCT):c.4185G>A (p.Ala1395=)not provided [RCV000899763]likely benign2135805046135805046Humanname
8629851CV84998single nucleotide variantNM_002299.2(LCT):c.5197C>T (p.Leu1733=)Malignant melanoma [RCV000065080]not provided2135790796135790796Humanname
8629852CV84999single nucleotide variantNM_002299.4(LCT):c.3915C>T (p.Leu1305=)not provided [RCV003546387]likely benign|not provided2135807386135807386Humanname
28878101CV881070single nucleotide variantNM_002299.4(LCT):c.5655C>T (p.Tyr1885=)Congenital lactase deficiency [RCV001135042]|not provided [RCV002070577]likely benign|uncertain significance2135788453135788453Human1name
28868527CV881071single nucleotide variantNM_002299.4(LCT):c.5391T>C (p.Asn1797=)Congenital lactase deficiency [RCV001130016]|not provided [RCV002558271]likely benign|uncertain significance2135789743135789743Human1name
28868534CV881072single nucleotide variantNM_002299.4(LCT):c.4776C>T (p.Gly1592=)Congenital lactase deficiency [RCV001130019]|LCT-related disorder [RCV003906244]|not provided [RCV001517889]benign|likely benign|uncertain significance2135800697135800697Human1name , trait , alternate_id
28869597CV881073single nucleotide variantNM_002299.4(LCT):c.4761C>T (p.Arg1587=)Congenital lactase deficiency [RCV001130728]|not provided [RCV001856692]likely benign|uncertain significance2135800712135800712Human1name
28874986CV881076single nucleotide variantNM_002299.4(LCT):c.4404G>A (p.Ala1468=)Congenital lactase deficiency [RCV001133687]|not provided [RCV002070563]likely benign|uncertain significance2135804827135804827Human1name
28874990CV881077single nucleotide variantNM_002299.4(LCT):c.4362T>G (p.Ser1454=)Congenital lactase deficiency [RCV001133688]|not provided [RCV002070564]benign|uncertain significance2135804869135804869Human1name
28874993CV881078single nucleotide variantNM_002299.4(LCT):c.4224G>A (p.Thr1408=)Congenital lactase deficiency [RCV001133689]|not provided [RCV002070565]likely benign|uncertain significance2135805007135805007Human1name
28878490CV881079single nucleotide variantNM_002299.4(LCT):c.3804C>A (p.Pro1268=)Congenital lactase deficiency [RCV001135188]|not provided [RCV002070579]likely benign|uncertain significance2135808543135808543Human1name
28868706CV881082single nucleotide variantNM_002299.4(LCT):c.3483C>T (p.Asn1161=)Congenital lactase deficiency [RCV001130152]|not provided [RCV002070519]likely benign|uncertain significance2135808864135808864Human1name
28868708CV881083single nucleotide variantNM_002299.4(LCT):c.3450C>T (p.Ser1150=)Congenital lactase deficiency [RCV001130153]|not provided [RCV005093595]likely benign|uncertain significance2135808897135808897Human1name
28870090CV881099single nucleotide variantNM_002299.4(LCT):c.725C>T (p.Thr242Met)Congenital lactase deficiency [RCV001130998]|not provided [RCV002556836]uncertain significance2135829672135829672Human1name
28870093CV881100single nucleotide variantNM_002299.4(LCT):c.677T>C (p.Ile226Thr)Congenital lactase deficiency [RCV001130999]|not provided [RCV001856696]|not specified [RCV001174743]uncertain significance2135833154135833154Human1name
126757209CV987936single nucleotide variantNM_002299.4(LCT):c.424C>T (p.Arg142Trp)not provided [RCV001298815]uncertain significance2135836746135836746Humanname
126747044CV1023694single nucleotide variantNM_002299.4(LCT):c.2647G>A (p.Val883Ile)not provided [RCV001351614]uncertain significance2135809700135809700Humanname
151863388CV1338966single nucleotide variantNM_002299.4(LCT):c.1805A>G (p.Asn602Ser)not provided [RCV001997431]uncertain significance2135812859135812859Humanname
151843367CV1339256single nucleotide variantNM_002299.4(LCT):c.2617C>T (p.Pro873Ser)not provided [RCV001977971]uncertain significance2135809730135809730Humanname
151767688CV1341601single nucleotide variantNM_002299.4(LCT):c.2359A>T (p.Lys787Ter)not provided [RCV001874134]pathogenic2135809988135809988Humanname
151759084CV1343023single nucleotide variantNM_002299.4(LCT):c.1663C>G (p.Gln555Glu)not provided [RCV002024155]uncertain significance2135817385135817385Humanname
151830934CV1343534single nucleotide variantNM_002299.4(LCT):c.2066G>A (p.Arg689His)not provided [RCV001920483]uncertain significance2135812598135812598Humanname
151794185CV1348127single nucleotide variantNM_002299.4(LCT):c.2276T>C (p.Ile759Thr)Inborn genetic diseases [RCV002545849]|not provided [RCV001876789]uncertain significance2135812388135812388Human1name
151862741CV1353529single nucleotide variantNM_002299.4(LCT):c.1115C>T (p.Ala372Val)Inborn genetic diseases [RCV002560480]|not provided [RCV001924212]uncertain significance2135817933135817933Human1name
151791852CV1354105single nucleotide variantNM_002299.4(LCT):c.2672C>T (p.Pro891Leu)not provided [RCV001876587]uncertain significance2135809675135809675Humanname
151780154CV1355838single nucleotide variantNM_002299.4(LCT):c.1330T>A (p.Cys444Ser)not provided [RCV002046085]uncertain significance2135817718135817718Humanname
151843371CV1357907single nucleotide variantNM_002299.4(LCT):c.1899C>A (p.His633Gln)not provided [RCV001881634]uncertain significance2135812765135812765Humanname
151842231CV1363109single nucleotide variantNM_002299.4(LCT):c.2091C>G (p.Asn697Lys)not provided [RCV002015474]uncertain significance2135812573135812573Humanname
151826319CV1363498single nucleotide variantNM_002299.4(LCT):c.1660G>A (p.Gly554Ser)Inborn genetic diseases [RCV004044876]|not provided [RCV002050284]uncertain significance2135817388135817388Human1name
151802256CV1366066single nucleotide variantNM_002299.4(LCT):c.2339A>G (p.Asn780Ser)not provided [RCV001917819]uncertain significance2135812325135812325Humanname
151802656CV1366133single nucleotide variantNM_002299.4(LCT):c.2521A>G (p.Ile841Val)Inborn genetic diseases [RCV004988878]|not provided [RCV001917854]likely benign|uncertain significance2135809826135809826Human1name
151767575CV1367407single nucleotide variantNM_002299.4(LCT):c.2196A>G (p.Ile732Met)not provided [RCV002025045]uncertain significance2135812468135812468Humanname
151891568CV1368077single nucleotide variantNM_002299.4(LCT):c.1340G>A (p.Arg447Gln)not provided [RCV001888766]uncertain significance2135817708135817708Humanname
151709513CV1375908single nucleotide variantNM_002299.4(LCT):c.2393C>T (p.Ala798Val)not provided [RCV001964003]uncertain significance2135809954135809954Humanname
151857738CV1377464single nucleotide variantNM_002299.4(LCT):c.2882C>A (p.Ala961Asp)not provided [RCV001938157]uncertain significance2135809465135809465Humanname
151768441CV1383364single nucleotide variantNM_002299.4(LCT):c.2233A>G (p.Arg745Gly)Inborn genetic diseases [RCV004988812]|not provided [RCV001874208]uncertain significance2135812431135812431Human1name
151817247CV1384786single nucleotide variantNM_002299.4(LCT):c.1571C>G (p.Ala524Gly)Inborn genetic diseases [RCV004641831]|not provided [RCV001992417]uncertain significance2135817477135817477Human1name
151849441CV1389561single nucleotide variantNM_002299.4(LCT):c.1570G>A (p.Ala524Thr)LCT-related disorder [RCV003948782]|not provided [RCV001937152]uncertain significance2135817478135817478Human1name , trait , alternate_id
151837622CV1392314single nucleotide variantNM_002299.4(LCT):c.1834G>C (p.Glu612Gln)not provided [RCV001902468]uncertain significance2135812830135812830Humanname
151714912CV1392513single nucleotide variantNM_002299.4(LCT):c.1568C>T (p.Ala523Val)Inborn genetic diseases [RCV003167076]|not provided [RCV001908772]uncertain significance2135817480135817480Human1name
151712181CV1400276single nucleotide variantNM_002299.4(LCT):c.2701G>A (p.Gly901Arg)not provided [RCV002002207]uncertain significance2135809646135809646Humanname
151727434CV1408246single nucleotide variantNM_002299.4(LCT):c.2804T>G (p.Phe935Cys)not provided [RCV001891901]uncertain significance2135809543135809543Humanname
151801379CV1414171single nucleotide variantNM_002299.4(LCT):c.1918G>A (p.Asp640Asn)not provided [RCV002048010]uncertain significance2135812746135812746Humanname
151842458CV1423985single nucleotide variantNM_002299.4(LCT):c.1478C>T (p.Ala493Val)not provided [RCV001977867]uncertain significance2135817570135817570Humanname
151745349CV1428141single nucleotide variantNM_002299.4(LCT):c.2542C>G (p.Leu848Val)not provided [RCV001926896]uncertain significance2135809805135809805Humanname
151805443CV1429893single nucleotide variantNM_002299.4(LCT):c.1094C>A (p.Ala365Glu)not provided [RCV001974291]uncertain significance2135817954135817954Humanname
151846456CV1431588single nucleotide variantNM_002299.4(LCT):c.2005G>A (p.Ala669Thr)not provided [RCV001957395]uncertain significance2135812659135812659Humanname
151846508CV1434767single nucleotide variantNM_002299.4(LCT):c.1903G>A (p.Val635Ile)not provided [RCV001922190]uncertain significance2135812761135812761Humanname
151725547CV1437846single nucleotide variantNM_002299.4(LCT):c.2260G>A (p.Gly754Arg)not provided [RCV001891670]uncertain significance2135812404135812404Humanname
151887852CV1439507single nucleotide variantNM_002299.4(LCT):c.2552G>A (p.Gly851Glu)Inborn genetic diseases [RCV005370128]|not provided [RCV002038276]uncertain significance2135809795135809795Human1name
151711165CV1443734single nucleotide variantNM_002299.4(LCT):c.2536G>A (p.Gly846Ser)not provided [RCV001908036]uncertain significance2135809811135809811Humanname
151842295CV1446026single nucleotide variantNM_002299.4(LCT):c.1789G>A (p.Val597Met)not provided [RCV001956901]uncertain significance2135812875135812875Humanname
151733446CV1456518single nucleotide variantNM_002299.4(LCT):c.1767T>A (p.His589Gln)not provided [RCV002041439]uncertain significance2135812897135812897Humanname
151793080CV1467583single nucleotide variantNM_002299.4(LCT):c.2137G>A (p.Val713Met)not provided [RCV001931605]uncertain significance2135812527135812527Humanname
151827606CV1472077single nucleotide variantNM_002299.4(LCT):c.2658G>C (p.Lys886Asn)not provided [RCV002030486]uncertain significance2135809689135809689Humanname
151862780CV1474349single nucleotide variantNM_002299.4(LCT):c.1222G>A (p.Val408Met)not provided [RCV001884148]uncertain significance2135817826135817826Humanname
151815882CV1475845single nucleotide variantNM_002299.4(LCT):c.2165C>A (p.Ser722Tyr)not provided [RCV001992281]uncertain significance2135812499135812499Humanname
151725838CV1482181single nucleotide variantNM_002299.4(LCT):c.1309G>A (p.Ala437Thr)not provided [RCV002020766]uncertain significance2135817739135817739Humanname
151879422CV1490849single nucleotide variantNM_002299.4(LCT):c.2179G>A (p.Val727Met)not provided [RCV001940807]uncertain significance2135812485135812485Humanname
151839555CV1492934single nucleotide variantNM_002299.4(LCT):c.2705C>A (p.Thr902Lys)not provided [RCV001881175]uncertain significance2135809642135809642Humanname
151711052CV1497106single nucleotide variantNM_002299.4(LCT):c.2123G>C (p.Gly708Ala)not provided [RCV002001973]uncertain significance2135812541135812541Humanname
151734498CV1501187single nucleotide variantNM_002299.4(LCT):c.2705C>T (p.Thr902Met)not provided [RCV002005129]uncertain significance2135809642135809642Humanname
152147835CV1576838single nucleotide variantNM_002299.4(LCT):c.1082G>A (p.Arg361Lys)not provided [RCV002178991]likely benign2135817966135817966Humanname
155716993CV1774240single nucleotide variantNM_002299.4(LCT):c.1073C>A (p.Ala358Asp)not provided [RCV002296500]uncertain significance2135817975135817975Humanname
155709269CV1775729single nucleotide variantNM_002299.4(LCT):c.2986G>A (p.Gly996Arg)not provided [RCV002296120]uncertain significance2135809361135809361Humanname
155749487CV1778215single nucleotide variantNM_002299.4(LCT):c.2623G>A (p.Glu875Lys)not provided [RCV002304703]uncertain significance2135809724135809724Humanname
156404796CV1883539single nucleotide variantNM_002299.4(LCT):c.2356A>C (p.Ile786Leu)not provided [RCV003069829]uncertain significance2135809991135809991Humanname
156353519CV1932994single nucleotide variantNM_002299.4(LCT):c.2080G>A (p.Ala694Thr)not provided [RCV002651085]uncertain significance2135812584135812584Humanname
156440189CV1946551single nucleotide variantNM_002299.4(LCT):c.2284A>G (p.Ser762Gly)not provided [RCV003110220]uncertain significance2135812380135812380Humanname
156278758CV1954801single nucleotide variantNM_002299.4(LCT):c.2509T>A (p.Phe837Ile)not provided [RCV002577410]uncertain significance2135809838135809838Humanname
155968597CV1967990single nucleotide variantNM_002299.4(LCT):c.1768C>T (p.Arg590Cys)not provided [RCV002617074]uncertain significance2135812896135812896Humanname
156173917CV1968489single nucleotide variantNM_002299.4(LCT):c.1043A>T (p.His348Leu)not provided [RCV002594854]uncertain significance2135818005135818005Humanname
156344271CV1970423single nucleotide variantNM_002299.4(LCT):c.1546G>A (p.Val516Met)not provided [RCV002601446]uncertain significance2135817502135817502Humanname
156412392CV1972086single nucleotide variantNM_002299.4(LCT):c.1396G>A (p.Gly466Arg)not provided [RCV002608529]uncertain significance2135817652135817652Humanname
156353907CV1974879single nucleotide variantNM_002299.4(LCT):c.1291G>A (p.Asp431Asn)not provided [RCV002602025]uncertain significance2135817757135817757Humanname
156357746CV1976920single nucleotide variantNM_002299.4(LCT):c.1058C>T (p.Ser353Phe)Inborn genetic diseases [RCV003308167]|not provided [RCV002581507]uncertain significance2135817990135817990Human1name
156382062CV1978931single nucleotide variantNM_002299.4(LCT):c.2629C>G (p.Pro877Ala)not provided [RCV002604036]uncertain significance2135809718135809718Humanname
156416255CV1984112single nucleotide variantNM_002299.4(LCT):c.2813C>T (p.Thr938Ile)not provided [RCV002610073]uncertain significance2135809534135809534Humanname
156240806CV1992544single nucleotide variantNM_002299.4(LCT):c.1553C>A (p.Ala518Asp)not provided [RCV002627125]uncertain significance2135817495135817495Humanname
155943794CV2002917single nucleotide variantNM_002299.4(LCT):c.2911G>T (p.Val971Leu)not provided [RCV002685628]uncertain significance2135809436135809436Humanname
156204047CV2004336single nucleotide variantNM_002299.4(LCT):c.1543G>A (p.Val515Met)not provided [RCV002666599]uncertain significance2135817505135817505Humanname
156027626CV2004701single nucleotide variantNM_002299.4(LCT):c.1993G>A (p.Glu665Lys)not provided [RCV002658523]uncertain significance2135812671135812671Humanname
156228422CV2019549single nucleotide variantNM_002299.4(LCT):c.2990T>C (p.Val997Ala)Inborn genetic diseases [RCV003167658]|not provided [RCV002701267]uncertain significance2135809357135809357Human1name
156230598CV2019708single nucleotide variantNM_002299.4(LCT):c.1955T>A (p.Met652Lys)not provided [RCV002701345]uncertain significance2135812709135812709Humanname
156357440CV2020162single nucleotide variantNM_002299.4(LCT):c.2761G>A (p.Ala921Thr)not provided [RCV002720631]uncertain significance2135809586135809586Humanname
156009635CV2020201single nucleotide variantNM_002299.4(LCT):c.1585A>G (p.Thr529Ala)Inborn genetic diseases [RCV004983098]|not provided [RCV002734830]uncertain significance2135817463135817463Human1name
156185837CV2020669single nucleotide variantNM_002299.4(LCT):c.1645G>A (p.Ala549Thr)not provided [RCV002710927]uncertain significance2135817403135817403Humanname
156240619CV2028264single nucleotide variantNM_002299.4(LCT):c.2395C>T (p.Arg799Cys)not provided [RCV002745649]uncertain significance2135809952135809952Humanname
156120744CV2052300single nucleotide variantNM_002299.4(LCT):c.2134C>T (p.His712Tyr)not provided [RCV002825288]uncertain significance2135812530135812530Humanname
156201870CV2062973single nucleotide variantNM_002299.4(LCT):c.1474A>G (p.Met492Val)not provided [RCV002828969]uncertain significance2135817574135817574Humanname
155913137CV2065887single nucleotide variantNM_002299.4(LCT):c.2978A>G (p.Asn993Ser)not provided [RCV002837859]uncertain significance2135809369135809369Humanname
156020770CV2118583duplicationNM_002299.4(LCT):c.3166dup (p.Arg1056fs)not provided [RCV002948762]pathogenic2135809180135809181Humanname
156263657CV2128872single nucleotide variantNM_002299.4(LCT):c.1154G>T (p.Gly385Val)not provided [RCV002933974]uncertain significance2135817894135817894Humanname
156323835CV2134354single nucleotide variantNM_002299.4(LCT):c.2773G>A (p.Asp925Asn)not provided [RCV002963389]uncertain significance2135809574135809574Humanname
156126275CV2144891single nucleotide variantNM_002299.4(LCT):c.1271C>T (p.Ala424Val)Inborn genetic diseases [RCV003003182]|not provided [RCV003005612]uncertain significance2135817777135817777Human1name
156024002CV2145501single nucleotide variantNM_002299.4(LCT):c.2198G>A (p.Arg733Lys)not provided [RCV003018366]uncertain significance2135812466135812466Humanname
156104110CV2149292single nucleotide variantNM_002299.4(LCT):c.2993A>G (p.Asp998Gly)not provided [RCV003021154]uncertain significance2135809354135809354Humanname
156307656CV2153794deletionNM_002299.4(LCT):c.4324del (p.Leu1442fs)not provided [RCV003028403]pathogenic2135804907135804907Humanname
156189203CV2160735single nucleotide variantNM_002299.4(LCT):c.2863A>T (p.Ser955Cys)not provided [RCV003024075]uncertain significance2135809484135809484Humanname
156116070CV2173973single nucleotide variantNM_002299.4(LCT):c.2059A>T (p.Thr687Ser)not provided [RCV003055280]uncertain significance2135812605135812605Humanname
156233271CV2180438duplicationNM_002299.4(LCT):c.5665dup (p.Ser1889fs)not provided [RCV003043169]uncertain significance2135788442135788443Humanname
156393418CV2185453single nucleotide variantNM_002299.4(LCT):c.1234G>T (p.Asp412Tyr)not provided [RCV003051581]uncertain significance2135817814135817814Humanname
156399768CV2185947single nucleotide variantNM_002299.4(LCT):c.1250T>A (p.Leu417Gln)not provided [RCV003052202]uncertain significance2135817798135817798Humanname
155914352CV2242688single nucleotide variantNM_002299.4(LCT):c.2507A>T (p.Tyr836Phe)Inborn genetic diseases [RCV002772050]uncertain significance2135809840135809840Human1name
156188693CV2258424single nucleotide variantNM_002299.4(LCT):c.1250T>C (p.Leu417Pro)Inborn genetic diseases [RCV002802714]uncertain significance2135817798135817798Human1name
155925709CV2277347single nucleotide variantNM_002299.4(LCT):c.1445A>T (p.Asp482Val)Inborn genetic diseases [RCV002860284]uncertain significance2135817603135817603Human1name
155996918CV2277461single nucleotide variantNM_002299.4(LCT):c.1241G>T (p.Arg414Leu)Inborn genetic diseases [RCV002864999]uncertain significance2135817807135817807Human1name
156242841CV2283222single nucleotide variantNM_002299.4(LCT):c.1267C>A (p.Gln423Lys)Inborn genetic diseases [RCV002854348]uncertain significance2135817781135817781Human1name
156242858CV2283223single nucleotide variantNM_002299.4(LCT):c.1268A>G (p.Gln423Arg)Inborn genetic diseases [RCV002854349]uncertain significance2135817780135817780Human1name
156170402CV2296809single nucleotide variantNM_002299.4(LCT):c.1321G>A (p.Ala441Thr)Inborn genetic diseases [RCV002891369]uncertain significance2135817727135817727Human1name
156361997CV2322983single nucleotide variantNM_002299.4(LCT):c.1142C>T (p.Thr381Ile)Inborn genetic diseases [RCV002941483]uncertain significance2135817906135817906Human1name
156071075CV2325166single nucleotide variantNM_002299.4(LCT):c.1103A>G (p.Asn368Ser)Inborn genetic diseases [RCV002925619]uncertain significance2135817945135817945Human1name
156000020CV2373481single nucleotide variantNM_002299.4(LCT):c.2176C>T (p.Arg726Cys)Inborn genetic diseases [RCV002689970]uncertain significance2135812488135812488Human1name
329385487CV2451482single nucleotide variantNM_002299.4(LCT):c.1991C>T (p.Pro664Leu)Inborn genetic diseases [RCV003214449]uncertain significance2135812673135812673Human1name
401759666CV2701663single nucleotide variantNM_002299.4(LCT):c.1127C>A (p.Ala376Asp)Inborn genetic diseases [RCV003256948]uncertain significance2135817921135817921Human1name
401772318CV2712663single nucleotide variantNM_002299.4(LCT):c.1443T>G (p.Ile481Met)Inborn genetic diseases [RCV003261803]uncertain significance2135817605135817605Human1name
11580073CV282512single nucleotide variantNM_002299.4(LCT):c.2714A>G (p.Asp905Gly)Congenital lactase deficiency [RCV000321962]|LCT-related disorder [RCV003972397]|Lactose intolerance [RCV000374209]|not provided [RCV000955965]benign|likely benign2135809633135809633Human3name , trait , alternate_id
11650827CV282513single nucleotide variantNM_002299.4(LCT):c.2177G>A (p.Arg726His)Congenital lactase deficiency [RCV000373266]|Lactose intolerance [RCV000295201]uncertain significance2135812487135812487Human3name
11577548CV282521single nucleotide variantNM_002299.4(LCT):c.1084A>G (p.Ile362Val)Congenital lactase deficiency [RCV000352993]|Lactose intolerance [RCV000262636]|not provided [RCV001511198]|not specified [RCV001528781]benign2135817964135817964Human3name
11656215CV282524single nucleotide variantNM_002299.4(LCT):c.1045G>A (p.Glu349Lys)Congenital lactase deficiency [RCV000331839]|Lactose intolerance [RCV000386407]|not provided [RCV002521292]uncertain significance2135818003135818003Human3name
11650615CV284162single nucleotide variantNM_002299.4(LCT):c.1780C>G (p.Gln594Glu)Congenital lactase deficiency [RCV000294073]|Inborn genetic diseases [RCV005348109]|Lactose intolerance [RCV000346697]uncertain significance2135812884135812884Human4name
11577734CV284389single nucleotide variantNM_002299.4(LCT):c.1396G>T (p.Gly466Trp)Congenital lactase deficiency [RCV000266315]|Lactose intolerance [RCV000316915]|not provided [RCV001850777]uncertain significance2135817652135817652Human3name
405178086CV2861191deletionNM_002299.4(LCT):c.5514del (p.Asn1838fs)not provided [RCV003542940]uncertain significance2135789620135789620Humanname
402481011CV2864129single nucleotide variantNM_002299.4(LCT):c.1271C>A (p.Ala424Glu)not provided [RCV003544026]uncertain significance2135817777135817777Humanname
405040598CV3063931single nucleotide variantNM_002299.4(LCT):c.2065C>T (p.Arg689Cys)not provided [RCV003739888]uncertain significance2135812599135812599Humanname
405171609CV3150074single nucleotide variantNM_002299.4(LCT):c.2364A>C (p.Glu788Asp)not provided [RCV003841545]uncertain significance2135809983135809983Humanname
405240647CV3176779single nucleotide variantNM_002299.4(LCT):c.1018C>A (p.Leu340Ile)not provided [RCV003867217]uncertain significance2135818030135818030Humanname
405817564CV3280043single nucleotide variantNM_002299.4(LCT):c.1346A>G (p.Gln449Arg)Inborn genetic diseases [RCV004412550]uncertain significance2135817702135817702Human1name
405817565CV3280044single nucleotide variantNM_002299.4(LCT):c.1723C>A (p.Leu575Ile)Inborn genetic diseases [RCV004412551]uncertain significance2135812941135812941Human1name
405817566CV3280045single nucleotide variantNM_002299.4(LCT):c.1973A>G (p.His658Arg)Inborn genetic diseases [RCV004412552]uncertain significance2135812691135812691Human1name
407491473CV3452558single nucleotide variantNM_002299.4(LCT):c.1274C>T (p.Thr425Met)Inborn genetic diseases [RCV004642226]uncertain significance2135817774135817774Human1name
407460527CV3452565single nucleotide variantNM_002299.4(LCT):c.2242G>C (p.Val748Leu)Inborn genetic diseases [RCV004633914]uncertain significance2135812422135812422Human1name
408377494CV3508216single nucleotide variantNM_002299.4(LCT):c.2897T>C (p.Leu966Pro)LCT-related disorder [RCV004751029]uncertain significance2135809450135809450Humanname , trait , alternate_id
408379052CV3517880single nucleotide variantNM_002299.4(LCT):c.2550G>C (p.Lys850Asn)LCT-related disorder [RCV004752518]uncertain significance2135809797135809797Humanname , trait , alternate_id
597696577CV3698842single nucleotide variantNM_002299.4(LCT):c.2470G>A (p.Asp824Asn)Inborn genetic diseases [RCV004986525]uncertain significance2135809877135809877Human1name
597696597CV3698845single nucleotide variantNM_002299.4(LCT):c.1750C>A (p.His584Asn)Inborn genetic diseases [RCV004986528]uncertain significance2135812914135812914Human1name
597696609CV3698847single nucleotide variantNM_002299.4(LCT):c.1514A>G (p.Gln505Arg)Inborn genetic diseases [RCV004986530]uncertain significance2135817534135817534Human1name
597696635CV3698852single nucleotide variantNM_002299.4(LCT):c.2792T>C (p.Ile931Thr)Inborn genetic diseases [RCV004986534]uncertain significance2135809555135809555Human1name
597970857CV3750551single nucleotide variantNM_002299.4(LCT):c.1757A>G (p.Asn586Ser)not provided [RCV005084295]uncertain significance2135812907135812907Humanname
597958526CV3751906single nucleotide variantNM_002299.4(LCT):c.1088G>A (p.Trp363Ter)not provided [RCV005081036]pathogenic2135817960135817960Humanname
597843705CV3827342single nucleotide variantNM_002299.4(LCT):c.1682C>G (p.Ser561Cys)not provided [RCV005172613]uncertain significance2135817366135817366Humanname
597847347CV3828006single nucleotide variantNM_002299.4(LCT):c.2429G>T (p.Gly810Val)not provided [RCV005173081]uncertain significance2135809918135809918Humanname
597964702CV3848139single nucleotide variantNM_002299.4(LCT):c.2532G>T (p.Lys844Asn)not provided [RCV005194018]uncertain significance2135809815135809815Humanname
598175388CV3984250single nucleotide variantNM_002299.4(LCT):c.1724T>G (p.Leu575Arg)Inborn genetic diseases [RCV005371257]uncertain significance2135812940135812940Human1name
598198476CV3984254single nucleotide variantNM_002299.4(LCT):c.2786C>T (p.Pro929Leu)Inborn genetic diseases [RCV005355494]uncertain significance2135809561135809561Human1name
598198481CV3984256single nucleotide variantNM_002299.4(LCT):c.2594C>T (p.Ser865Phe)Inborn genetic diseases [RCV005355495]uncertain significance2135809753135809753Human1name
8617124CV71031deletionNM_002299.4(LCT):c.5387del (p.Asp1796fs)Congenital lactase deficiency [RCV000049805]likely pathogenic2135789747135789747Human1name
15152420CV719257single nucleotide variantNM_002299.4(LCT):c.1318G>A (p.Val440Ile)Congenital lactase deficiency [RCV001130287]|not provided [RCV000879803]benign2135817730135817730Human1name
8625133CV80252single nucleotide variantNM_002299.2(LCT):c.1948C>T (p.Gln650Ter)Malignant melanoma [RCV000060328]not provided2135812716135812716Humanname
28869831CV881084single nucleotide variantNM_002299.4(LCT):c.2983C>T (p.His995Tyr)Congenital lactase deficiency [RCV001130858]uncertain significance2135809364135809364Human1name
28869833CV881085single nucleotide variantNM_002299.4(LCT):c.2969G>T (p.Ser990Ile)Congenital lactase deficiency [RCV001130859]uncertain significance2135809378135809378Human1name
28875247CV881087single nucleotide variantNM_002299.4(LCT):c.2819G>A (p.Gly940Glu)Congenital lactase deficiency [RCV001133829]uncertain significance2135809528135809528Human1name
28875254CV881089single nucleotide variantNM_002299.4(LCT):c.2618C>T (p.Pro873Leu)Congenital lactase deficiency [RCV001133831]uncertain significance2135809729135809729Human1name
28878844CV881091single nucleotide variantNM_002299.4(LCT):c.2310A>C (p.Leu770Phe)Congenital lactase deficiency [RCV001135324]|Inborn genetic diseases [RCV004032300]|not provided [RCV002556885]uncertain significance2135812354135812354Human2name
28878846CV881092single nucleotide variantNM_002299.4(LCT):c.2293C>A (p.Leu765Ile)Congenital lactase deficiency [RCV001135325]|not provided [RCV001856727]uncertain significance2135812371135812371Human1name
28878850CV881093single nucleotide variantNM_002299.4(LCT):c.1931C>T (p.Thr644Ile)Congenital lactase deficiency [RCV001135326]|not provided [RCV002556886]uncertain significance2135812733135812733Human1name
28870084CV881097single nucleotide variantNM_002299.4(LCT):c.1004C>G (p.Thr335Ser)Congenital lactase deficiency [RCV001130996]|Inborn genetic diseases [RCV002556835]uncertain significance2135818044135818044Human2name
34891073CV905883single nucleotide variantNM_002299.4(LCT):c.2761G>T (p.Ala921Ser)Inborn genetic diseases [RCV003284013]|not provided [RCV001873650]|not specified [RCV001174744]uncertain significance2135809586135809586Human1name
126748287CV1003199single nucleotide variantNM_002299.4(LCT):c.5722C>T (p.Arg1908Cys)Congenital lactase deficiency [RCV004720306]|not provided [RCV001326313]likely benign|uncertain significance2135788386135788386Human1name
126746815CV1003200single nucleotide variantNM_002299.4(LCT):c.4496C>T (p.Thr1499Met)not provided [RCV001315252]uncertain significance2135804097135804097Humanname
126736165CV1019452single nucleotide variantNM_002299.4(LCT):c.5723G>A (p.Arg1908His)Congenital lactase deficiency [RCV001335019]uncertain significance2135788385135788385Human1name
126757601CV1023693single nucleotide variantNM_002299.4(LCT):c.4750G>A (p.Asp1584Asn)not provided [RCV001339611]uncertain significance2135800723135800723Humanname
126912324CV1040536single nucleotide variantNM_002299.4(LCT):c.4193C>A (p.Ala1398Glu)not provided [RCV001369675]uncertain significance2135805038135805038Humanname
151859662CV1337360single nucleotide variantNM_002299.4(LCT):c.4458G>C (p.Gln1486His)Inborn genetic diseases [RCV004988931]|not provided [RCV001923838]uncertain significance2135804773135804773Human1name
151859672CV1337361single nucleotide variantNM_002299.4(LCT):c.3094G>A (p.Gly1032Ser)not provided [RCV001923839]uncertain significance2135809253135809253Humanname
151777506CV1342723single nucleotide variantNM_002299.4(LCT):c.3712C>G (p.Pro1238Ala)not provided [RCV001988823]uncertain significance2135808635135808635Humanname
151760691CV1343260single nucleotide variantNM_002299.4(LCT):c.4866G>T (p.Gln1622His)not provided [RCV002024330]uncertain significance2135800607135800607Humanname
151829931CV1343385single nucleotide variantNM_002299.4(LCT):c.4198G>A (p.Gly1400Ser)Congenital lactase deficiency [RCV003483858]|Inborn genetic diseases [RCV002555802]|not provided [RCV001920392]uncertain significance|not provided2135805033135805033Human2name
151867661CV1348613single nucleotide variantNM_002299.4(LCT):c.4060T>G (p.Tyr1354Asp)not provided [RCV001924806]uncertain significance2135807241135807241Humanname
151758691CV1349873single nucleotide variantNM_002299.4(LCT):c.4294A>G (p.Ile1432Val)not provided [RCV001987011]uncertain significance2135804937135804937Humanname
151740398CV1352605single nucleotide variantNM_002299.4(LCT):c.4120T>C (p.Tyr1374His)not provided [RCV001870962]uncertain significance2135807181135807181Humanname
151831179CV1359095single nucleotide variantNM_002299.4(LCT):c.4934G>A (p.Arg1645Gln)not provided [RCV001993727]uncertain significance2135798071135798071Humanname
151842354CV1359289single nucleotide variantNM_002299.4(LCT):c.3013A>G (p.Asn1005Asp)not provided [RCV002015489]uncertain significance2135809334135809334Humanname
151865251CV1370967single nucleotide variantNM_002299.4(LCT):c.4568T>G (p.Phe1523Cys)not provided [RCV001884453]uncertain significance2135804025135804025Humanname
151813011CV1373111single nucleotide variantNM_002299.4(LCT):c.3829G>A (p.Gly1277Arg)not provided [RCV001900136]uncertain significance2135808518135808518Humanname
151831369CV1373377single nucleotide variantNM_002299.4(LCT):c.5170A>G (p.Met1724Val)not provided [RCV001901843]uncertain significance2135790823135790823Humanname
151712329CV1374614single nucleotide variantNM_002299.4(LCT):c.5647G>A (p.Ala1883Thr)not provided [RCV001908264]uncertain significance2135788461135788461Humanname
151835864CV1374876single nucleotide variantNM_002299.4(LCT):c.4054G>A (p.Ala1352Thr)not provided [RCV001920968]uncertain significance2135807247135807247Humanname
151881872CV1375750single nucleotide variantNM_002299.4(LCT):c.3857C>T (p.Thr1286Ile)Inborn genetic diseases [RCV003170254]|not provided [RCV001961812]uncertain significance2135808490135808490Human1name
151853758CV1376358single nucleotide variantNM_002299.4(LCT):c.4351A>G (p.Ile1451Val)Inborn genetic diseases [RCV002642048]|not provided [RCV001996285]uncertain significance2135804880135804880Human1name
151878367CV1387216single nucleotide variantNM_002299.4(LCT):c.3623C>T (p.Thr1208Met)not provided [RCV001940679]uncertain significance2135808724135808724Humanname
151755177CV1387711single nucleotide variantNM_002299.4(LCT):c.4942G>C (p.Asp1648His)not provided [RCV001969598]uncertain significance2135798063135798063Humanname
151820602CV1388654single nucleotide variantNM_002299.4(LCT):c.5448T>G (p.Ser1816Arg)not provided [RCV001975687]uncertain significance2135789686135789686Humanname
151742733CV1389366single nucleotide variantNM_002299.4(LCT):c.4643G>A (p.Gly1548Asp)not provided [RCV002042395]uncertain significance2135803950135803950Humanname
151737583CV1389860single nucleotide variantNM_002299.4(LCT):c.3395A>G (p.Lys1132Arg)not provided [RCV001892939]uncertain significance2135808952135808952Humanname
151738286CV1389995single nucleotide variantNM_002299.4(LCT):c.5728A>C (p.Lys1910Gln)not provided [RCV001893012]uncertain significance2135788380135788380Humanname
151834573CV1394188single nucleotide variantNM_002299.4(LCT):c.3827T>C (p.Val1276Ala)not provided [RCV002051067]uncertain significance2135808520135808520Humanname
151752899CV1398175single nucleotide variantNM_002299.4(LCT):c.4463A>C (p.Gln1488Pro)not provided [RCV001969376]uncertain significance2135804768135804768Humanname
151790927CV1402883single nucleotide variantNM_002299.4(LCT):c.5404A>G (p.Thr1802Ala)Inborn genetic diseases [RCV002553638]|not provided [RCV001898173]uncertain significance2135789730135789730Human1name
151891546CV1410128single nucleotide variantNM_002299.4(LCT):c.3932G>A (p.Arg1311Gln)not provided [RCV001943412]uncertain significance2135807369135807369Humanname
151751238CV1412074single nucleotide variantNM_002299.4(LCT):c.5712G>C (p.Lys1904Asn)not provided [RCV001927539]uncertain significance2135788396135788396Humanname
151788236CV1412986single nucleotide variantNM_002299.4(LCT):c.3437T>A (p.Met1146Lys)not provided [RCV001989813]uncertain significance2135808910135808910Humanname
151810006CV1417292single nucleotide variantNM_002299.4(LCT):c.3998G>T (p.Gly1333Val)not provided [RCV002028877]uncertain significance2135807303135807303Humanname
151886008CV1418441single nucleotide variantNM_002299.4(LCT):c.3760C>G (p.Arg1254Gly)not provided [RCV001887472]uncertain significance2135808587135808587Humanname
151730259CV1420468single nucleotide variantNM_002299.4(LCT):c.3913C>T (p.Leu1305Phe)not provided [RCV002041122]uncertain significance2135807388135807388Humanname
151793370CV1422411single nucleotide variantNM_002299.4(LCT):c.3199A>G (p.Met1067Val)not provided [RCV001898391]uncertain significance2135809148135809148Humanname
151738755CV1428854single nucleotide variantNM_002299.4(LCT):c.3947G>C (p.Trp1316Ser)Congenital lactase deficiency [RCV004720352]|not provided [RCV002022110]likely benign|uncertain significance2135807354135807354Human1name
151886552CV1435797single nucleotide variantNM_002299.4(LCT):c.3350A>G (p.Lys1117Arg)not provided [RCV001962784]uncertain significance2135808997135808997Humanname
151776271CV1440300single nucleotide variantNM_002299.4(LCT):c.3716C>T (p.Ser1239Leu)not provided [RCV001874931]uncertain significance2135808631135808631Humanname
151711154CV1443721single nucleotide variantNM_002299.4(LCT):c.4175T>C (p.Ile1392Thr)not provided [RCV001908034]uncertain significance2135805056135805056Humanname
151780283CV1446234single nucleotide variantNM_002299.4(LCT):c.4421T>C (p.Val1474Ala)not provided [RCV001989067]uncertain significance2135804810135804810Humanname
151813960CV1448191single nucleotide variantNM_002299.4(LCT):c.4924A>T (p.Met1642Leu)not provided [RCV001918895]uncertain significance2135798081135798081Humanname
151740655CV1451874single nucleotide variantNM_002299.4(LCT):c.3665A>G (p.Asn1222Ser)not provided [RCV002022297]uncertain significance2135808682135808682Humanname
151824880CV1456569single nucleotide variantNM_002299.4(LCT):c.5626G>A (p.Gly1876Ser)Inborn genetic diseases [RCV004641703]|not provided [RCV002050158]likely benign|uncertain significance2135788482135788482Human1name
151738270CV1458212single nucleotide variantNM_002299.4(LCT):c.4062C>A (p.Tyr1354Ter)not provided [RCV001946838]pathogenic2135807239135807239Humanname
151813896CV1460406single nucleotide variantNM_002299.4(LCT):c.5128G>A (p.Ala1710Thr)not provided [RCV001878543]uncertain significance2135790865135790865Humanname
151777902CV1463228single nucleotide variantNM_002299.4(LCT):c.3660G>T (p.Arg1220Ser)Inborn genetic diseases [RCV005361783]|not provided [RCV001875083]likely benign|uncertain significance2135808687135808687Human1name
151797563CV1467742single nucleotide variantNM_002299.4(LCT):c.3728C>T (p.Thr1243Met)not provided [RCV001952616]uncertain significance2135808619135808619Humanname
151719510CV1468711single nucleotide variantNM_002299.4(LCT):c.4858T>C (p.Tyr1620His)not provided [RCV002003445]uncertain significance2135800615135800615Humanname
151871737CV1480549single nucleotide variantNM_002299.4(LCT):c.5381C>T (p.Ala1794Val)Inborn genetic diseases [RCV002555404]|not provided [RCV001906576]likely benign|uncertain significance2135789753135789753Human1name
151860398CV1482951single nucleotide variantNM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)Congenital lactase deficiency [RCV002506946]|not provided [RCV001883845]pathogenic2135808812135808812Human1name
151808172CV1483463single nucleotide variantNM_002299.4(LCT):c.4126C>T (p.Arg1376Trp)not provided [RCV001918346]uncertain significance2135807175135807175Humanname
151853210CV1486787single nucleotide variantNM_002299.4(LCT):c.5669T>A (p.Leu1890His)not provided [RCV001937629]uncertain significance2135788439135788439Humanname
151749323CV1487530single nucleotide variantNM_002299.4(LCT):c.5486A>G (p.Lys1829Arg)not provided [RCV001947974]uncertain significance2135789648135789648Humanname
151835018CV1489197single nucleotide variantNM_002299.4(LCT):c.3904G>T (p.Ala1302Ser)not provided [RCV001902200]uncertain significance2135808443135808443Humanname
151791093CV1489916single nucleotide variantNM_002299.4(LCT):c.3655C>T (p.Pro1219Ser)Inborn genetic diseases [RCV004641792]|not provided [RCV001952059]uncertain significance2135808692135808692Human1name
151740643CV1490601single nucleotide variantNM_002299.4(LCT):c.3805A>G (p.Ile1269Val)Inborn genetic diseases [RCV004988982]|not provided [RCV001985209]uncertain significance2135808542135808542Human1name
151667800CV1495022single nucleotide variantNM_002299.4(LCT):c.3629A>G (p.Tyr1210Cys)not provided [RCV002001496]uncertain significance2135808718135808718Humanname
151886734CV1495808single nucleotide variantNM_002299.4(LCT):c.3427G>A (p.Ala1143Thr)not provided [RCV001887629]uncertain significance2135808920135808920Humanname
151887145CV1496110single nucleotide variantNM_002299.4(LCT):c.3058C>T (p.His1020Tyr)not provided [RCV001887706]uncertain significance2135809289135809289Humanname
151762715CV1499226single nucleotide variantNM_002299.4(LCT):c.5761T>G (p.Leu1921Val)not provided [RCV001863289]uncertain significance2135788347135788347Humanname
151744798CV1501539single nucleotide variantNM_002299.4(LCT):c.3730G>A (p.Ala1244Thr)not provided [RCV002042613]uncertain significance2135808617135808617Humanname
151709140CV1507788single nucleotide variantNM_002299.4(LCT):c.5572C>T (p.Pro1858Ser)not provided [RCV002001590]uncertain significance2135788536135788536Humanname
151749856CV1512054single nucleotide variantNM_002299.4(LCT):c.4447G>A (p.Ala1483Thr)not provided [RCV001986173]uncertain significance2135804784135804784Humanname
155749750CV1772173single nucleotide variantNM_002299.4(LCT):c.5459T>G (p.Leu1820Arg)not provided [RCV002304978]uncertain significance2135789675135789675Humanname
155695318CV1776999single nucleotide variantNM_002299.4(LCT):c.5722C>A (p.Arg1908Ser)not provided [RCV002295176]uncertain significance2135788386135788386Humanname
155698909CV1777367single nucleotide variantNM_002299.4(LCT):c.3797A>G (p.Asp1266Gly)not provided [RCV002295491]uncertain significance2135808550135808550Humanname
155706678CV1778367single nucleotide variantNM_002299.4(LCT):c.5581A>G (p.Ser1861Gly)not provided [RCV002295985]uncertain significance2135788527135788527Humanname
155708041CV1778461single nucleotide variantNM_002299.4(LCT):c.3017G>T (p.Gly1006Val)not provided [RCV002296062]uncertain significance2135809330135809330Humanname
155970242CV1888931single nucleotide variantNM_002299.4(LCT):c.3746C>T (p.Ala1249Val)not provided [RCV003075142]likely benign2135808601135808601Humanname
156282041CV1896851single nucleotide variantNM_002299.4(LCT):c.4127G>A (p.Arg1376Gln)Inborn genetic diseases [RCV003090412]|not provided [RCV003087151]likely benign|uncertain significance2135807174135807174Human1name
156025470CV1917553single nucleotide variantNM_002299.4(LCT):c.3409C>T (p.Pro1137Ser)not provided [RCV002619608]uncertain significance2135808938135808938Humanname
156235999CV1952783single nucleotide variantNM_002299.4(LCT):c.4055C>T (p.Ala1352Val)not provided [RCV002576054]uncertain significance2135807246135807246Humanname
156415411CV1958408single nucleotide variantNM_002299.4(LCT):c.3362C>T (p.Ser1121Leu)not provided [RCV002589153]uncertain significance2135808985135808985Humanname
156253976CV1967334single nucleotide variantNM_002299.4(LCT):c.3604G>A (p.Asp1202Asn)not provided [RCV002597563]uncertain significance2135808743135808743Humanname
156355668CV1975097single nucleotide variantNM_002299.4(LCT):c.4696A>G (p.Ile1566Val)Inborn genetic diseases [RCV004983031]|not provided [RCV002602143]uncertain significance2135800777135800777Human1name
155910866CV1980147single nucleotide variantNM_002299.4(LCT):c.3607G>A (p.Val1203Ile)not provided [RCV002613980]uncertain significance2135808740135808740Humanname
156327747CV1982343single nucleotide variantNM_002299.4(LCT):c.4261A>G (p.Ile1421Val)not provided [RCV002649651]uncertain significance2135804970135804970Humanname
156234193CV1982344single nucleotide variantNM_002299.4(LCT):c.3253G>A (p.Asp1085Asn)not provided [RCV002626906]uncertain significance2135809094135809094Humanname
156414644CV1982910single nucleotide variantNM_002299.4(LCT):c.3424G>A (p.Ala1142Thr)not provided [RCV002609298]uncertain significance2135808923135808923Humanname
156393224CV1987941single nucleotide variantNM_002299.4(LCT):c.4432G>A (p.Asp1478Asn)not provided [RCV002635190]uncertain significance2135804799135804799Humanname
156106944CV1996720single nucleotide variantNM_002299.4(LCT):c.4540C>T (p.Arg1514Trp)not provided [RCV002662331]uncertain significance2135804053135804053Humanname
156043038CV1999114single nucleotide variantNM_002299.4(LCT):c.3279A>G (p.Ile1093Met)not provided [RCV002659111]uncertain significance2135809068135809068Humanname
156027281CV2004675single nucleotide variantNM_002299.4(LCT):c.4975C>T (p.Arg1659Trp)not provided [RCV002658509]uncertain significance2135798030135798030Humanname
156098900CV2009619single nucleotide variantNM_002299.4(LCT):c.3592A>G (p.Arg1198Gly)Inborn genetic diseases [RCV002706592]|not provided [RCV002715611]uncertain significance2135808755135808755Human1name
156208616CV2042427single nucleotide variantNM_002299.4(LCT):c.3839A>G (p.Asn1280Ser)not provided [RCV002766512]uncertain significance2135808508135808508Humanname
155952311CV2058832single nucleotide variantNM_002299.4(LCT):c.4479C>G (p.His1493Gln)not provided [RCV002816334]uncertain significance2135804114135804114Humanname
156010357CV2079584single nucleotide variantNM_002299.4(LCT):c.3458G>A (p.Trp1153Ter)not provided [RCV002866071]pathogenic2135808889135808889Humanname
156207373CV2103823single nucleotide variantNM_002299.4(LCT):c.4040C>T (p.Thr1347Ile)not provided [RCV002931919]uncertain significance2135807261135807261Humanname
155947721CV2150988single nucleotide variantNM_002299.4(LCT):c.3622A>G (p.Thr1208Ala)Inborn genetic diseases [RCV004632150]|not provided [RCV003014669]uncertain significance2135808725135808725Human1name
156295769CV2153120single nucleotide variantNM_002299.4(LCT):c.4184C>T (p.Ala1395Val)not provided [RCV003010156]uncertain significance2135805047135805047Humanname
8559425CV21625single nucleotide variantNM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)Congenital lactase deficiency [RCV000006964]|not provided [RCV005089197]pathogenic2135807131135807131Human1name
155957077CV2162868single nucleotide variantNM_002299.4(LCT):c.3334T>C (p.Tyr1112His)not provided [RCV003015161]uncertain significance2135809013135809013Humanname
156100993CV2164352single nucleotide variantNM_002299.4(LCT):c.5766C>G (p.Ser1922Arg)not provided [RCV003038583]uncertain significance2135788342135788342Humanname
156164971CV2169548single nucleotide variantNM_002299.4(LCT):c.3688C>A (p.Gln1230Lys)not provided [RCV003023332]uncertain significance2135808659135808659Humanname
155962750CV2183649single nucleotide variantNM_002299.4(LCT):c.3518G>T (p.Gly1173Val)not provided [RCV003033023]uncertain significance2135808829135808829Humanname
156399966CV2202330single nucleotide variantNM_002299.4(LCT):c.4403C>T (p.Ala1468Val)Inborn genetic diseases [RCV002656284]uncertain significance2135804828135804828Human1name
155977177CV2218694single nucleotide variantNM_002299.4(LCT):c.5078A>G (p.Tyr1693Cys)Inborn genetic diseases [RCV002688028]uncertain significance2135794674135794674Human1name
156284778CV2232741single nucleotide variantNM_002299.4(LCT):c.4255G>A (p.Asp1419Asn)Inborn genetic diseases [RCV002747333]uncertain significance2135804976135804976Human1name
156076770CV2248355single nucleotide variantNM_002299.4(LCT):c.5174C>T (p.Thr1725Met)Inborn genetic diseases [RCV002783487]uncertain significance2135790819135790819Human1name
156200308CV2256070single nucleotide variantNM_002299.4(LCT):c.5135G>A (p.Arg1712His)Inborn genetic diseases [RCV002803415]uncertain significance2135790858135790858Human1name
156093174CV2256726single nucleotide variantNM_002299.4(LCT):c.3259G>A (p.Gly1087Ser)Inborn genetic diseases [RCV002798638]uncertain significance2135809088135809088Human1name
156335186CV2272772single nucleotide variantNM_002299.4(LCT):c.5620A>G (p.Met1874Val)Inborn genetic diseases [RCV002835665]uncertain significance2135788488135788488Human1name
156290310CV2309809single nucleotide variantNM_002299.4(LCT):c.5710A>C (p.Lys1904Gln)Inborn genetic diseases [RCV002897127]uncertain significance2135788398135788398Human1name
156292544CV2321222single nucleotide variantNM_002299.4(LCT):c.3980G>C (p.Gly1327Ala)Inborn genetic diseases [RCV002935720]uncertain significance2135807321135807321Human1name
156326312CV2335444single nucleotide variantNM_002299.4(LCT):c.5768C>T (p.Pro1923Leu)Inborn genetic diseases [RCV002963637]uncertain significance2135788340135788340Human1name
155935189CV2371745single nucleotide variantNM_002299.4(LCT):c.4196A>G (p.Asp1399Gly)Inborn genetic diseases [RCV002684764]uncertain significance2135805035135805035Human1name
329400641CV2438600single nucleotide variantNM_002299.4(LCT):c.3554G>A (p.Arg1185His)Inborn genetic diseases [RCV003197641]uncertain significance2135808793135808793Human1name
329401804CV2457438single nucleotide variantNM_002299.4(LCT):c.5360G>C (p.Arg1787Pro)Inborn genetic diseases [RCV003198818]uncertain significance2135789774135789774Human1name
401740986CV2680522single nucleotide variantNM_002299.4(LCT):c.5302T>C (p.Tyr1768His)Inborn genetic diseases [RCV003240788]uncertain significance2135790691135790691Human1name
401730946CV2711579single nucleotide variantNM_002299.4(LCT):c.4067C>T (p.Thr1356Ile)Inborn genetic diseases [RCV003271560]uncertain significance2135807234135807234Human1name
401749488CV2712372single nucleotide variantNM_002299.4(LCT):c.4762G>T (p.Ala1588Ser)Inborn genetic diseases [RCV003294901]uncertain significance2135800711135800711Human1name
401865924CV2778924single nucleotide variantNM_002299.4(LCT):c.4507G>A (p.Val1503Ile)Inborn genetic diseases [RCV003359768]uncertain significance2135804086135804086Human1name
11578940CV281851single nucleotide variantNM_002299.4(LCT):c.4922T>C (p.Val1641Ala)Congenital lactase deficiency [RCV000392927]|Lactose intolerance [RCV000292131]|not provided [RCV001859964]uncertain significance2135798083135798083Human3name
11579698CV281852single nucleotide variantNM_002299.4(LCT):c.4777G>A (p.Val1593Met)Congenital lactase deficiency [RCV000344130]|Lactose intolerance [RCV000310179]|not provided [RCV001515976]benign|likely benign2135800696135800696Human3name
11578346CV281867single nucleotide variantNM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)Congenital lactase deficiency [RCV000279445]|Inborn genetic diseases [RCV002521291]|Lactose intolerance [RCV000350754]|not provided [RCV001859967]uncertain significance2135809061135809061Human4name
11580219CV282506single nucleotide variantNM_002299.4(LCT):c.5768C>A (p.Pro1923Gln)Congenital lactase deficiency [RCV000360630]|LCT-related disorder [RCV003972396]|Lactose intolerance [RCV000326698]|not provided [RCV000955964]benign|likely benign2135788340135788340Human3name , trait , alternate_id
11580944CV282507single nucleotide variantNM_002299.4(LCT):c.4916A>G (p.Asn1639Ser)Congenital lactase deficiency [RCV000349439]|Lactose intolerance [RCV000392923]|not provided [RCV001511195]|not specified [RCV001528850]benign2135798089135798089Human3name
11579849CV282510single nucleotide variantNM_002299.4(LCT):c.3848C>T (p.Thr1283Met)Congenital lactase deficiency [RCV000314392]|LCT-related disorder [RCV003910276]|Lactose intolerance [RCV000371150]|not provided [RCV001859966]likely benign|uncertain significance2135808499135808499Human3name , trait , alternate_id
401917494CV2829886single nucleotide variantNM_002299.4(LCT):c.5516G>A (p.Gly1839Asp)not provided [RCV003443930]uncertain significance2135789618135789618Humanname
11577641CV284150single nucleotide variantNM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys)Congenital lactase deficiency [RCV000264426]|Inborn genetic diseases [RCV004021763]|Lactose intolerance [RCV000361273]|not provided [RCV001367398]uncertain significance2135803947135803947Human4name
11578037CV284158single nucleotide variantNM_002299.4(LCT):c.3599C>T (p.Thr1200Met)Congenital lactase deficiency [RCV000272852]|Lactose intolerance [RCV000384035]uncertain significance2135808748135808748Human3name
11580569CV284161single nucleotide variantNM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)Congenital lactase deficiency [RCV000337452]|Inborn genetic diseases [RCV002521290]|LCT-related disorder [RCV003922417]|Lactose intolerance [RCV000392216]|not provided [RCV001500980]likely benign|uncertain significance2135809006135809006Human4name , trait , alternate_id
11646199CV284368single nucleotide variantNM_002299.4(LCT):c.5771T>C (p.Val1924Ala)Congenital lactase deficiency [RCV000366268]|Lactose intolerance [RCV000269250]uncertain significance2135788337135788337Human3name
11577824CV284372single nucleotide variantNM_002299.4(LCT):c.5656G>A (p.Val1886Ile)Congenital lactase deficiency [RCV000268234]|Inborn genetic diseases [RCV002521287]|Lactose intolerance [RCV000321074]uncertain significance2135788452135788452Human4name
11577501CV284375single nucleotide variantNM_002299.4(LCT):c.3986C>T (p.Thr1329Met)Congenital lactase deficiency [RCV000261490]|Lactose intolerance [RCV000353910]|not provided [RCV001859965]uncertain significance2135807315135807315Human3name
11655430CV284376single nucleotide variantNM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)Congenital lactase deficiency [RCV000382441]|Lactose intolerance [RCV000325589]uncertain significance2135808752135808752Human3name
402523245CV2867614single nucleotide variantNM_002299.4(LCT):c.3290T>C (p.Val1097Ala)not provided [RCV003547898]uncertain significance2135809057135809057Humanname
405223938CV2982739single nucleotide variantNM_002299.4(LCT):c.4425G>T (p.Arg1475Ser)not provided [RCV003681058]uncertain significance2135804806135804806Humanname
404998978CV3008944single nucleotide variantNM_002299.4(LCT):c.4123G>A (p.Gly1375Arg)not provided [RCV003692985]uncertain significance2135807178135807178Humanname
402503119CV3035595single nucleotide variantNM_002299.4(LCT):c.4343G>A (p.Arg1448His)not provided [RCV003714858]uncertain significance2135804888135804888Humanname
405139713CV3045462single nucleotide variantNM_002299.4(LCT):c.5726C>G (p.Ser1909Cys)not provided [RCV003725542]uncertain significance2135788382135788382Humanname
405143342CV3126067single nucleotide variantNM_002299.4(LCT):c.4762G>A (p.Ala1588Thr)not provided [RCV003816983]uncertain significance2135800711135800711Humanname
405122984CV3126325single nucleotide variantNM_002299.4(LCT):c.3679G>A (p.Glu1227Lys)not provided [RCV003815077]uncertain significance2135808668135808668Humanname
402515344CV3178882single nucleotide variantNM_002299.4(LCT):c.3931C>T (p.Arg1311Ter)not provided [RCV003879315]pathogenic2135807370135807370Humanname
405289422CV3218271single nucleotide variantNM_002299.4(LCT):c.5321A>G (p.Asn1774Ser)LCT-related disorder [RCV003983673]uncertain significance2135790672135790672Humanname , trait , alternate_id
405817568CV3280047single nucleotide variantNM_002299.4(LCT):c.3320C>T (p.Thr1107Met)Inborn genetic diseases [RCV004412554]uncertain significance2135809027135809027Human1name
405817569CV3280048single nucleotide variantNM_002299.4(LCT):c.3842C>T (p.Pro1281Leu)Inborn genetic diseases [RCV004412555]uncertain significance2135808505135808505Human1name
405817570CV3280049single nucleotide variantNM_002299.4(LCT):c.4270G>T (p.Val1424Leu)Inborn genetic diseases [RCV004412556]uncertain significance2135804961135804961Human1name
405817571CV3280050single nucleotide variantNM_002299.4(LCT):c.4850C>T (p.Ala1617Val)Inborn genetic diseases [RCV004412557]uncertain significance2135800623135800623Human1name
405817572CV3280051single nucleotide variantNM_002299.4(LCT):c.5108A>G (p.Asp1703Gly)Inborn genetic diseases [RCV004412558]uncertain significance2135794644135794644Human1name
407491470CV3452557single nucleotide variantNM_002299.4(LCT):c.4223C>T (p.Thr1408Met)Inborn genetic diseases [RCV004642225]uncertain significance2135805008135805008Human1name
407491478CV3452559single nucleotide variantNM_002299.4(LCT):c.4279G>A (p.Asp1427Asn)Inborn genetic diseases [RCV004642227]uncertain significance2135804952135804952Human1name
407491481CV3452560single nucleotide variantNM_002299.4(LCT):c.4054G>T (p.Ala1352Ser)Inborn genetic diseases [RCV004642228]uncertain significance2135807247135807247Human1name
407460523CV3452561single nucleotide variantNM_002299.4(LCT):c.5228C>T (p.Pro1743Leu)Inborn genetic diseases [RCV004633913]uncertain significance2135790765135790765Human1name
407491484CV3452562single nucleotide variantNM_002299.4(LCT):c.5158T>C (p.Phe1720Leu)Inborn genetic diseases [RCV004642229]uncertain significance2135790835135790835Human1name
597696550CV3698837single nucleotide variantNM_002299.4(LCT):c.3697G>T (p.Ala1233Ser)Inborn genetic diseases [RCV004986521]uncertain significance2135808650135808650Human1name
597696555CV3698838single nucleotide variantNM_002299.4(LCT):c.5080G>A (p.Ala1694Thr)Inborn genetic diseases [RCV004986522]uncertain significance2135794672135794672Human1name
597696563CV3698839single nucleotide variantNM_002299.4(LCT):c.4541G>A (p.Arg1514Gln)Inborn genetic diseases [RCV004986523]uncertain significance2135804052135804052Human1name
597696571CV3698840single nucleotide variantNM_002299.4(LCT):c.4072G>A (p.Val1358Ile)Inborn genetic diseases [RCV004986524]uncertain significance2135807229135807229Human1name
597696583CV3698843single nucleotide variantNM_002299.4(LCT):c.5263C>T (p.Arg1755Trp)Inborn genetic diseases [RCV004986526]uncertain significance2135790730135790730Human1name
597696590CV3698844single nucleotide variantNM_002299.4(LCT):c.4673A>G (p.Asn1558Ser)Inborn genetic diseases [RCV004986527]uncertain significance2135800800135800800Human1name
597696604CV3698846single nucleotide variantNM_002299.4(LCT):c.3063G>T (p.Trp1021Cys)Inborn genetic diseases [RCV004986529]uncertain significance2135809284135809284Human1name
597696617CV3698848single nucleotide variantNM_002299.4(LCT):c.4720G>T (p.Ala1574Ser)Inborn genetic diseases [RCV004986531]uncertain significance2135800753135800753Human1name
597853856CV3747550single nucleotide variantNM_002299.4(LCT):c.5506C>T (p.Arg1836Ter)not provided [RCV005066561]pathogenic2135789628135789628Humanname
597878835CV3763290single nucleotide variantNM_002299.4(LCT):c.5734G>A (p.Gly1912Arg)not provided [RCV005108885]uncertain significance2135788374135788374Humanname
597877087CV3813342single nucleotide variantNM_002299.4(LCT):c.3866T>A (p.Ile1289Lys)not provided [RCV005149278]uncertain significance2135808481135808481Humanname
597928357CV3837251single nucleotide variantNM_002299.4(LCT):c.4028A>G (p.Asn1343Ser)not provided [RCV005185409]uncertain significance2135807273135807273Humanname
598175357CV3984245single nucleotide variantNM_002299.4(LCT):c.4931C>T (p.Thr1644Met)Inborn genetic diseases [RCV005371252]uncertain significance2135798074135798074Human1name
598175363CV3984246single nucleotide variantNM_002299.4(LCT):c.3623C>G (p.Thr1208Arg)Inborn genetic diseases [RCV005371253]uncertain significance2135808724135808724Human1name
598175368CV3984247single nucleotide variantNM_002299.4(LCT):c.5134C>T (p.Arg1712Cys)Inborn genetic diseases [RCV005371254]uncertain significance2135790859135790859Human1name
598175381CV3984249single nucleotide variantNM_002299.4(LCT):c.3289G>A (p.Val1097Ile)Inborn genetic diseases [RCV005371256]likely benign2135809058135809058Human1name
598198472CV3984253single nucleotide variantNM_002299.4(LCT):c.3733A>T (p.Met1245Leu)Inborn genetic diseases [RCV005355493]likely benign2135808614135808614Human1name
598229760CV3984255single nucleotide variantNM_002299.4(LCT):c.3995T>G (p.Phe1332Cys)Inborn genetic diseases [RCV005362596]uncertain significance2135807306135807306Human1name
14688130CV620031single nucleotide variantNM_002299.4(LCT):c.4760G>A (p.Arg1587His)not provided [RCV001873175]uncertain significance2135800713135800713Humanname
8617120CV71027single nucleotide variantNM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)Congenital lactase deficiency [RCV000049801]likely pathogenic2135807214135807214Human1name
8617121CV71028single nucleotide variantNM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)Congenital lactase deficiency [RCV000049802]likely pathogenic2135804812135804812Human1name
8617122CV71029single nucleotide variantNM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)Congenital lactase deficiency [RCV000049803]likely pathogenic2135800639135800639Human1name
8625132CV80251single nucleotide variantNM_002299.2(LCT):c.4219G>A (p.Asp1407Asn)Malignant melanoma [RCV000060327]not provided2135805012135805012Humanname
28869600CV881074single nucleotide variantNM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)Congenital lactase deficiency [RCV001130729]|not provided [RCV001856693]uncertain significance2135800759135800759Human1name
28874983CV881075single nucleotide variantNM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)Congenital lactase deficiency [RCV001133686]|not provided [RCV001873532]likely benign|uncertain significance2135804784135804784Human1name
28878492CV881080single nucleotide variantNM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)Congenital lactase deficiency [RCV001135189]uncertain significance2135808681135808681Human1name
28868701CV881081single nucleotide variantNM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)Congenital lactase deficiency [RCV001130150]uncertain significance2135808692135808692Human1name
329355149CV970489single nucleotide variantNM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)Congenital lactase deficiency [RCV003222281]likely pathogenic2135798055135798055Human1name
329355154CV970490single nucleotide variantNM_002299.4(LCT):c.4363C>T (p.Arg1455Cys)Congenital lactase deficiency [RCV003222282]likely pathogenic2135804868135804868Human1name
126729745CV985926single nucleotide variantNM_002299.4(LCT):c.3383G>A (p.Trp1128Ter)Congenital lactase deficiency [RCV001293909]pathogenic2135808964135808964Humanname
151885796CV1428409duplicationNM_002299.4(LCT):c.443_444dup (p.Asp149fs)not provided [RCV002037836]pathogenic2135836725135836726Humanname
156368230CV2021087duplicationNM_002299.4(LCT):c.386_389dup (p.Leu131fs)not provided [RCV002721330]pathogenic2135836780135836781Humanname
13211564CV425397deletionNM_002299.4(LCT):c.584_605del (p.Leu195fs)not provided [RCV000497620]likely pathogenic2135836565135836586Humanname
8617125CV71032microsatelliteNM_002299.4(LCT):c.653_654del (p.Ser218fs)Congenital lactase deficiency [RCV000049806]likely pathogenic2135833177135833178Humanname
151775099CV1450331deletionNM_002299.4(LCT):c.1429_1435del (p.Tyr477fs)not provided [RCV001915357]pathogenic2135817613135817619Humanname
8617119CV71026deletionNM_002299.4(LCT):c.1692_1696del (p.Val565fs)Congenital lactase deficiency [RCV000049800]likely pathogenic2135817352135817356Human1name
127259343CV1058916deletionNM_002299.4(LCT):c.4967_4976del (p.Asn1656fs)LCT-related disorder [RCV003983884]|not provided [RCV001387131]pathogenic|likely pathogenic2135798029135798038Human1name , trait , alternate_id
151824115CV1424858deletionNM_002299.4(LCT):c.2110_2112del (p.Asp704del)not provided [RCV001901171]uncertain significance2135812552135812554Humanname
151755213CV1425920insertionNM_002299.4(LCT):c.2110_2111insC (p.Asp704fs)not provided [RCV002007260]pathogenic2135812553135812554Humanname
8617123CV71030deletionNM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)Congenital lactase deficiency [RCV000049804]pathogenic|likely pathogenic2135794751135794754Human1name
151848809CV1510597indelNM_002299.4(LCT):c.1267_1268delinsAG (p.Gln423Arg)not provided [RCV001957698]uncertain significance2135817780135817781Humanname
152092620CV1593170indelNM_002299.4(LCT):c.1083_1084delinsGG (p.Ile362Val)not provided [RCV002094397]likely benign2135817964135817965Humanname
156359034CV2162307microsatelliteNM_002299.4(LCT):c.742_743del (p.Ser247_Leu248insTer)not provided [RCV003031433]pathogenic2135829654135829655Humanname
405196595CV2976089insertionNM_002299.4(LCT):c.4935_4936insTGATGAATACGCGG (p.Ile1646Ter)not provided [RCV003677725]pathogenic2135798069135798070Humanname
15186552CV726211single nucleotide variantNM_207338.4(LCTL):c.90C>A (p.Ala30=)not provided [RCV000887007]benign156656527666565276Humanname
15127989CV714563single nucleotide variantNM_207338.4(LCTL):c.201C>T (p.Asp67=)not provided [RCV000964004]benign156656475766564757Humanname
156166466CV2345172single nucleotide variantNM_207338.4(LCTL):c.92C>G (p.Ser31Cys)not specified [RCV004195912]uncertain significance156656527466565274Humanname
329353285CV2469092single nucleotide variantNM_207338.4(LCTL):c.64G>T (p.Ala22Ser)not specified [RCV004274328]uncertain significance156656530266565302Humanname
401735114CV2706671single nucleotide variantNM_207338.4(LCTL):c.59G>A (p.Gly20Glu)not specified [RCV004319245]uncertain significance156656530766565307Humanname
401731878CV2712198single nucleotide variantNM_207338.4(LCTL):c.98A>G (p.Tyr33Cys)not specified [RCV004313704]uncertain significance156656526866565268Humanname
401930048CV2814258single nucleotide variantNM_207338.4(LCTL):c.981G>A (p.Gln327=)not provided [RCV003390527]likely benign156655320066553200Humanname
401930050CV2814259single nucleotide variantNM_207338.4(LCTL):c.831G>A (p.Glu277=)not provided [RCV003390528]likely benign156655781366557813Humanname
407491499CV3452567single nucleotide variantNM_207338.4(LCTL):c.68G>A (p.Arg23Gln)not specified [RCV004642233]uncertain significance156656529866565298Humanname
597632399CV3698853single nucleotide variantNM_207338.4(LCTL):c.64G>A (p.Ala22Thr)not specified [RCV004940000]likely benign156656530266565302Humanname
15101708CV703295single nucleotide variantNM_207338.4(LCTL):c.762T>A (p.Gly254=)not provided [RCV000959145]benign156655788266557882Humanname
401879564CV2769663single nucleotide variantNM_207338.4(LCTL):c.166T>A (p.Trp56Arg)not specified [RCV004351591]uncertain significance156656479266564792Humanname
401888211CV2788139single nucleotide variantNM_207338.4(LCTL):c.149A>T (p.Tyr50Phe)not specified [RCV004352758]likely benign156656480966564809Humanname
407491512CV3452570single nucleotide variantNM_207338.4(LCTL):c.169G>A (p.Asp57Asn)not specified [RCV004642236]uncertain significance156656478966564789Humanname
407491518CV3452571single nucleotide variantNM_207338.4(LCTL):c.146C>A (p.Ala49Asp)not specified [RCV004642237]uncertain significance156656481266564812Humanname
597795570CV3698854single nucleotide variantNM_207338.4(LCTL):c.188C>T (p.Pro63Leu)not specified [RCV004934895]uncertain significance156656477066564770Humanname
597795576CV3698860single nucleotide variantNM_207338.4(LCTL):c.101A>G (p.Tyr34Cys)not specified [RCV004934897]uncertain significance156656526566565265Humanname
597632415CV3698861single nucleotide variantNM_207338.4(LCTL):c.224G>A (p.Gly75Glu)not specified [RCV004940005]uncertain significance156656473466564734Humanname
597795579CV3698862single nucleotide variantNM_207338.4(LCTL):c.107C>A (p.Thr36Asn)not specified [RCV004934898]uncertain significance156656525966565259Humanname
598175411CV3984259single nucleotide variantNM_207338.4(LCTL):c.202G>A (p.Val68Ile)not specified [RCV005371261]uncertain significance156656475666564756Humanname
598229763CV3984268single nucleotide variantNM_207338.4(LCTL):c.217G>A (p.Gly73Arg)not specified [RCV005362597]uncertain significance156656474166564741Humanname
598175463CV3984270single nucleotide variantNM_207338.4(LCTL):c.160G>A (p.Gly54Ser)not specified [RCV005371268]uncertain significance156656479866564798Humanname
155978055CV2214959single nucleotide variantNM_207338.4(LCTL):c.649C>A (p.Pro217Thr)not specified [RCV004084739]uncertain significance156656106266561062Humanname
156297652CV2240877single nucleotide variantNM_207338.4(LCTL):c.811A>G (p.Ser271Gly)not specified [RCV004102165]uncertain significance156655783366557833Humanname
156048465CV2241666single nucleotide variantNM_207338.4(LCTL):c.890G>A (p.Gly297Asp)not specified [RCV004104827]uncertain significance156655775466557754Humanname
156237090CV2285774single nucleotide variantNM_207338.4(LCTL):c.353T>C (p.Leu118Pro)not specified [RCV004141910]uncertain significance156656392866563928Humanname
155905919CV2303209single nucleotide variantNM_207338.4(LCTL):c.794G>A (p.Gly265Glu)not specified [RCV004156968]uncertain significance156655785066557850Humanname
156101644CV2313501single nucleotide variantNM_207338.4(LCTL):c.673G>A (p.Gly225Ser)not specified [RCV004163804]uncertain significance156656103866561038Humanname
156184762CV2349965single nucleotide variantNM_207338.4(LCTL):c.874A>G (p.Asn292Asp)not specified [RCV004206374]uncertain significance156655777066557770Humanname
155902572CV2356481single nucleotide variantNM_207338.4(LCTL):c.740C>T (p.Thr247Met)not specified [RCV004199398]uncertain significance156655800266558002Humanname
156247061CV2357028single nucleotide variantNM_207338.4(LCTL):c.712G>A (p.Ala238Thr)not specified [RCV004206833]uncertain significance156655803066558030Humanname
155910909CV2366723single nucleotide variantNM_207338.4(LCTL):c.478C>A (p.Gln160Lys)not specified [RCV004210723]uncertain significance156656351866563518Humanname
156211263CV2370331single nucleotide variantNM_207338.4(LCTL):c.650C>T (p.Pro217Leu)not specified [RCV004213239]uncertain significance156656106166561061Humanname
329393863CV2449910single nucleotide variantNM_207338.4(LCTL):c.772A>T (p.Ile258Phe)not specified [RCV004268990]uncertain significance156655787266557872Humanname
401783200CV2716176single nucleotide variantNM_207338.4(LCTL):c.950A>G (p.Glu317Gly)not specified [RCV004323409]uncertain significance156655323166553231Humanname
405817583CV3280062single nucleotide variantNM_207338.4(LCTL):c.499G>A (p.Gly167Ser)not specified [RCV004412569]uncertain significance156656129766561297Humanname
405817585CV3280064single nucleotide variantNM_207338.4(LCTL):c.662T>C (p.Leu221Pro)not specified [RCV004412571]uncertain significance156656104966561049Humanname
405817586CV3280065single nucleotide variantNM_207338.4(LCTL):c.665G>A (p.Arg222His)not specified [RCV004412572]likely benign156656104666561046Humanname
405817587CV3280066single nucleotide variantNM_207338.4(LCTL):c.796G>A (p.Glu266Lys)not specified [RCV004412573]uncertain significance156655784866557848Humanname
405817588CV3280067single nucleotide variantNM_207338.4(LCTL):c.838G>A (p.Glu280Lys)not specified [RCV004412574]uncertain significance156655780666557806Humanname
405817589CV3280068single nucleotide variantNM_207338.4(LCTL):c.878C>T (p.Pro293Leu)not specified [RCV004412575]uncertain significance156655776666557766Humanname
407491504CV3452568single nucleotide variantNM_207338.4(LCTL):c.667G>C (p.Gly223Arg)not specified [RCV004642234]uncertain significance156656104466561044Humanname
407491508CV3452569single nucleotide variantNM_207338.4(LCTL):c.373G>A (p.Glu125Lys)not specified [RCV004642235]uncertain significance156656362366563623Humanname
407491522CV3452572single nucleotide variantNM_207338.4(LCTL):c.647C>T (p.Ala216Val)not specified [RCV004642238]uncertain significance156656106466561064Humanname
407491527CV3452573single nucleotide variantNM_207338.4(LCTL):c.328T>C (p.Phe110Leu)not specified [RCV004642239]uncertain significance156656395366563953Humanname
597795573CV3698855single nucleotide variantNM_207338.4(LCTL):c.869T>C (p.Phe290Ser)not specified [RCV004934896]uncertain significance156655777566557775Humanname
597632403CV3698856single nucleotide variantNM_207338.4(LCTL):c.356C>A (p.Pro119His)not specified [RCV004940001]uncertain significance156656392566563925Humanname
597632406CV3698857single nucleotide variantNM_207338.4(LCTL):c.397G>A (p.Glu133Lys)not specified [RCV004940002]likely benign156656359966563599Humanname
597632410CV3698858single nucleotide variantNM_207338.4(LCTL):c.802G>A (p.Val268Met)not specified [RCV004940003]uncertain significance156655784266557842Humanname
597632412CV3698859single nucleotide variantNM_207338.4(LCTL):c.952A>G (p.Met318Val)not specified [RCV004940004]uncertain significance156655322966553229Humanname
598198487CV3984258single nucleotide variantNM_207338.4(LCTL):c.575G>A (p.Arg192His)not specified [RCV005355496]uncertain significance156656122166561221Humanname
598175442CV3984263single nucleotide variantNM_207338.4(LCTL):c.787G>A (p.Asp263Asn)not specified [RCV005371265]uncertain significance156655785766557857Humanname
598175449CV3984266single nucleotide variantNM_207338.4(LCTL):c.857G>A (p.Cys286Tyr)not specified [RCV005371266]uncertain significance156655778766557787Humanname
156127009CV2234545single nucleotide variantNM_207338.4(LCTL):c.1036A>G (p.Thr346Ala)not specified [RCV004100738]uncertain significance156655314566553145Humanname
156296862CV2236677single nucleotide variantNM_207338.4(LCTL):c.1505G>C (p.Gly502Ala)not specified [RCV004110637]uncertain significance156655168166551681Humanname
156078457CV2248317single nucleotide variantNM_207338.4(LCTL):c.1070G>A (p.Arg357His)not specified [RCV004119476]uncertain significance156655311166553111Humanname
155957174CV2282027single nucleotide variantNM_207338.4(LCTL):c.1608G>A (p.Met536Ile)not specified [RCV004138781]uncertain significance156654858666548586Humanname
156194690CV2297140single nucleotide variantNM_207338.4(LCTL):c.1376A>G (p.Asp459Gly)not specified [RCV004151038]uncertain significance156655181066551810Humanname
156343553CV2364128single nucleotide variantNM_207338.4(LCTL):c.1049C>T (p.Thr350Met)not specified [RCV004221504]likely benign156655313266553132Humanname
329366031CV2438020single nucleotide variantNM_207338.4(LCTL):c.1510C>G (p.Pro504Ala)not specified [RCV004263726]uncertain significance156655167666551676Humanname
329400503CV2438410single nucleotide variantNM_207338.4(LCTL):c.1426G>A (p.Val476Ile)not specified [RCV004259567]uncertain significance156655176066551760Humanname
329398772CV2442781single nucleotide variantNM_207338.4(LCTL):c.1618A>G (p.Thr540Ala)not specified [RCV004251612]uncertain significance156654857666548576Humanname
401727033CV2684441single nucleotide variantNM_207338.4(LCTL):c.1316T>C (p.Met439Thr)not specified [RCV004291515]uncertain significance156655205166552051Humanname
401888574CV2757732single nucleotide variantNM_207338.4(LCTL):c.1241C>A (p.Ala414Glu)not specified [RCV004336883]uncertain significance156655212666552126Humanname
401875690CV2766966single nucleotide variantNM_207338.4(LCTL):c.1121C>A (p.Pro374Gln)not specified [RCV004343350]uncertain significance156655306066553060Humanname
405817575CV3280054single nucleotide variantNM_207338.4(LCTL):c.1009G>A (p.Asp337Asn)not specified [RCV004412561]uncertain significance156655317266553172Humanname
405817576CV3280055single nucleotide variantNM_207338.4(LCTL):c.1096C>A (p.Arg366Ser)not specified [RCV004412562]uncertain significance156655308566553085Humanname
405817577CV3280056single nucleotide variantNM_207338.4(LCTL):c.1096C>T (p.Arg366Cys)not specified [RCV004412563]uncertain significance156655308566553085Humanname
405817578CV3280057single nucleotide variantNM_207338.4(LCTL):c.1229T>C (p.Met410Thr)not specified [RCV004412564]likely benign156655213866552138Humanname
405817579CV3280058single nucleotide variantNM_207338.4(LCTL):c.1384G>C (p.Glu462Gln)not specified [RCV004412565]uncertain significance156655180266551802Humanname
405817580CV3280059single nucleotide variantNM_207338.4(LCTL):c.1453C>T (p.Arg485Cys)not specified [RCV004412566]uncertain significance156655173366551733Humanname
405817581CV3280060single nucleotide variantNM_207338.4(LCTL):c.1459C>T (p.Pro487Ser)not specified [RCV004412567]uncertain significance156655172766551727Humanname
405817582CV3280061single nucleotide variantNM_207338.4(LCTL):c.1619C>T (p.Thr540Met)not specified [RCV004412568]uncertain significance156654857566548575Humanname
597632419CV3698863single nucleotide variantNM_207338.4(LCTL):c.1327A>C (p.Ile443Leu)not specified [RCV004940006]uncertain significance156655185966551859Humanname
597632422CV3698864single nucleotide variantNM_207338.4(LCTL):c.1003A>G (p.Thr335Ala)not specified [RCV004940007]uncertain significance156655317866553178Humanname
597632426CV3698865single nucleotide variantNM_207338.4(LCTL):c.1142C>G (p.Ser381Cys)not specified [RCV004940008]uncertain significance156655303966553039Humanname
598175418CV3984260single nucleotide variantNM_207338.4(LCTL):c.1441A>G (p.Arg481Gly)not specified [RCV005371262]uncertain significance156655174566551745Humanname
598175427CV3984261single nucleotide variantNM_207338.4(LCTL):c.1040G>A (p.Arg347Gln)not specified [RCV005371263]uncertain significance156655314166553141Humanname
598175434CV3984262single nucleotide variantNM_207338.4(LCTL):c.1339G>A (p.Ala447Thr)not specified [RCV005371264]uncertain significance156655184766551847Humanname
598198497CV3984264single nucleotide variantNM_207338.4(LCTL):c.1183C>T (p.Leu395Phe)not specified [RCV005355497]uncertain significance156655299866552998Humanname
598198504CV3984265single nucleotide variantNM_207338.4(LCTL):c.1237G>A (p.Gly413Arg)not specified [RCV005355498]uncertain significance156655213066552130Humanname
598175455CV3984269single nucleotide variantNM_207338.4(LCTL):c.1514A>G (p.Asn505Ser)not specified [RCV005371267]uncertain significance156655167266551672Humanname