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447 records found for search term Mettl2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127244108CV1053802single nucleotide variantNM_001080510.5(METTL23):c.407+6T>CIntellectual disability, autosomal recessive 44 [RCV001375999]uncertain significance177673338376733383Human1name
155799089CV1862327duplicationNM_001080510.5(METTL23):c.322+2dupIntellectual disability, autosomal recessive 44 [RCV002471732]pathogenic177673321676733217Human1name
401856094CV2750398deletionNM_001080510.5(METTL23):c.322+1delIntellectual disability, autosomal recessive 44 [RCV003333945]pathogenic177673321576733215Human1name
12848965CV376585single nucleotide variantNM_001080510.5(METTL23):c.407+1G>Cnot provided [RCV000421646]likely pathogenic177673337876733378Humanname
12896228CV390605microsatelliteNM_152559.3(METTL27):c.389-13CA[7]not specified [RCV000455068]likely benign77384012173840122Humanname
15186399CV776408single nucleotide variantNM_001080510.5(METTL23):c.323-6C>Tnot provided [RCV000931341]likely benign177673328776733287Humanname
8581465CV115904single nucleotide variantNM_001123364.1(METTL24):c.319-4088C>ALung cancer [RCV000096427]uncertain significance6110326960110326960Humanname
156126797CV2223713deletionNM_001080510.5(METTL23):c.85-8_85-6delInborn genetic diseases [RCV002708200]uncertain significance177673297076732972Human1name
401938511CV2811062duplicationNM_024109.4(METTL22):c.1180-120_1180-81dupnot provided [RCV003417632]likely benign1686459868645987Humanname
401938510CV2811061insertionNM_024109.4(METTL22):c.1180-104_1180-103insATGTTGTCTAACTACTCTCCTTGCCTGCTCCGTGGCTGACnot provided [RCV003417631]likely benign1686459868645987Humanname
405290337CV3200847single nucleotide variantNM_001080510.5(METTL23):c.366G>C (p.Lys122Asn)METTL23-related disorder [RCV003984511]likely benign177673333676733336Humanname , trait , alternate_id
12850043CV363736single nucleotide variantNM_001080510.5(METTL23):c.136G>C (p.Glu46Gln)METTL23-related disorder [RCV003912597]|not provided [RCV000440669]benign|likely benign177673302976733029Human1name , trait , alternate_id
401911475CV2811060single nucleotide variantNM_024109.4(METTL22):c.21G>A (p.Ala7=)not provided [RCV003426576]likely benign1686256868625686Humanname
401887706CV2772104single nucleotide variantNM_032230.3(METTL25):c.5C>T (p.Ala2Val)not specified [RCV004344759]uncertain significance128235857082358570Humanname
405659805CV3278412single nucleotide variantNM_181725.4(METTL2A):c.8G>C (p.Gly3Ala)not specified [RCV004416898]uncertain significance176242391062423910Humanname
156265943CV2275436single nucleotide variantNM_032230.3(METTL25):c.16C>T (p.Pro6Ser)not specified [RCV004135312]uncertain significance128235858182358581Humanname
407503276CV3450089single nucleotide variantNM_024109.4(METTL22):c.20C>T (p.Ala7Val)not specified [RCV004645421]uncertain significance1686256858625685Humanname
598226252CV3982135single nucleotide variantNM_181725.4(METTL2A):c.17C>A (p.Pro6His)not specified [RCV005380589]uncertain significance176242391962423919Humanname
156398319CV2200661single nucleotide variantNM_032230.3(METTL25):c.95C>G (p.Ser32Cys)not specified [RCV004081323]uncertain significance128235866082358660Humanname
329389397CV2467319single nucleotide variantNM_018396.3(METTL2B):c.83C>T (p.Pro28Leu)not specified [RCV004285116]uncertain significance7128476848128476848Humanname
401774324CV2702742single nucleotide variantNM_152559.3(METTL27):c.37C>T (p.Arg13Trp)not specified [RCV004318982]uncertain significance77384210473842104Humanname
401922505CV2825762single nucleotide variantNM_152559.3(METTL27):c.639G>A (p.Pro213=)not provided [RCV003433872]likely benign77383484273834842Humanname
405694898CV3278342single nucleotide variantNM_024109.4(METTL22):c.77T>A (p.Leu26His)not specified [RCV004424348]uncertain significance1686257428625742Humanname
405695016CV3278364single nucleotide variantNM_032230.3(METTL25):c.37C>G (p.Leu13Val)not specified [RCV004424370]uncertain significance128235860282358602Humanname
405659748CV3278393single nucleotide variantNM_032366.5(METTL26):c.55C>T (p.Arg19Trp)not specified [RCV004416879]uncertain significance16636236636236Humanname
405659784CV3278405single nucleotide variantNM_152559.3(METTL27):c.92T>G (p.Phe31Cys)not specified [RCV004416891]uncertain significance77384204973842049Humanname
405659822CV3278418single nucleotide variantNM_018396.3(METTL2B):c.53A>G (p.Gln18Arg)not specified [RCV004416904]uncertain significance7128476818128476818Humanname
405659831CV3278421single nucleotide variantNM_018396.3(METTL2B):c.810G>A (p.Lys270=)not specified [RCV004416907]likely benign7128498036128498036Humanname
407503285CV3450092single nucleotide variantNM_024109.4(METTL22):c.58G>A (p.Val20Met)not specified [RCV004645424]uncertain significance1686257238625723Humanname
407518266CV3450113single nucleotide variantNM_152559.3(METTL27):c.83A>G (p.Lys28Arg)not specified [RCV004628810]uncertain significance77384205873842058Humanname
407503336CV3450115single nucleotide variantNM_018396.3(METTL2B):c.40G>A (p.Ala14Thr)not specified [RCV004645440]uncertain significance7128476805128476805Humanname
407503339CV3450116single nucleotide variantNM_018396.3(METTL2B):c.41C>A (p.Ala14Asp)not specified [RCV004645441]uncertain significance7128476806128476806Humanname
596947851CV3547437single nucleotide variantNM_152559.3(METTL27):c.513G>A (p.Ser171=)not provided [RCV004811741]likely benign77383496873834968Humanname
597635034CV3553524single nucleotide variantNM_024109.4(METTL22):c.52G>A (p.Asp18Asn)not specified [RCV004824268]uncertain significance1686257178625717Humanname
597679152CV3553526single nucleotide variantNM_024109.4(METTL22):c.29T>C (p.Met10Thr)not specified [RCV004830637]uncertain significance1686256948625694Humanname
597679284CV3553549single nucleotide variantNM_032230.3(METTL25):c.32C>G (p.Pro11Arg)not specified [RCV004830651]uncertain significance128235859782358597Humanname
597632926CV3553565single nucleotide variantNM_152559.3(METTL27):c.618C>T (p.Thr206=)not specified [RCV004830662]likely benign77383486373834863Humanname
597632870CV3553577single nucleotide variantNM_018396.3(METTL2B):c.77G>A (p.Ser26Asn)not specified [RCV004830672]uncertain significance7128476842128476842Humanname
598128312CV3887513single nucleotide variantNM_152559.3(METTL27):c.330C>A (p.Gly110=)not provided [RCV005243686]likely benign77384047273840472Humanname
598226197CV3982120single nucleotide variantNM_032230.3(METTL25):c.46C>G (p.Leu16Val)not specified [RCV005380582]uncertain significance128235861182358611Humanname
598226205CV3982121single nucleotide variantNM_032230.3(METTL25):c.97A>G (p.Ile33Val)not specified [RCV005380583]uncertain significance128235866282358662Humanname
598226244CV3982134single nucleotide variantNM_181725.4(METTL2A):c.40G>A (p.Ala14Thr)not specified [RCV005380588]uncertain significance176242394262423942Humanname
15158409CV699817single nucleotide variantNM_018396.3(METTL2B):c.942T>C (p.Tyr314=)not provided [RCV000947068]benign7128500928128500928Humanname
155963787CV2198026single nucleotide variantNM_032366.5(METTL26):c.296C>A (p.Pro99Gln)not specified [RCV004077229]uncertain significance16635676635676Humanname
155978689CV2222726single nucleotide variantNM_032366.5(METTL26):c.274G>C (p.Glu92Gln)not specified [RCV004101575]uncertain significance16635698635698Humanname
156096500CV2253123single nucleotide variantNM_032230.3(METTL25):c.125A>G (p.Tyr42Cys)not specified [RCV004120903]uncertain significance128235869082358690Humanname
156141716CV2288575single nucleotide variantNM_032230.3(METTL25):c.196G>A (p.Ala66Thr)not specified [RCV004152096]uncertain significance128235876182358761Humanname
156200375CV2290460single nucleotide variantNM_032230.3(METTL25):c.182C>G (p.Ala61Gly)not specified [RCV004155162]uncertain significance128235874782358747Humanname
156097824CV2310298single nucleotide variantNM_032230.3(METTL25):c.172G>A (p.Val58Met)not specified [RCV004157040]uncertain significance128235873782358737Humanname
156167859CV2399086single nucleotide variantNM_018396.3(METTL2B):c.263G>A (p.Gly88Glu)not specified [RCV004246527]uncertain significance7128479218128479218Humanname
401861284CV2755521single nucleotide variantNM_032230.3(METTL25):c.181G>T (p.Ala61Ser)not specified [RCV004340105]uncertain significance128235874682358746Humanname
401862569CV2762224single nucleotide variantNM_018396.3(METTL2B):c.218A>G (p.Asn73Ser)not specified [RCV004335351]uncertain significance7128479173128479173Humanname
401897995CV2769956single nucleotide variantNM_032230.3(METTL25):c.128C>T (p.Thr43Ile)not specified [RCV004353791]uncertain significance128235869382358693Humanname
405694915CV3278345single nucleotide variantNM_001080510.5(METTL23):c.4T>C (p.Tyr2His)Inborn genetic diseases [RCV004424351]uncertain significance177672971476729714Human1name
405694994CV3278360single nucleotide variantNM_032230.3(METTL25):c.151G>C (p.Val51Leu)not specified [RCV004424366]uncertain significance128235871682358716Humanname
405659707CV3278380single nucleotide variantNM_015997.4(METTL25B):c.47A>G (p.Gln16Arg)not specified [RCV004416866]uncertain significance1156729151156729151Humanname
405659741CV3278391single nucleotide variantNM_015997.4(METTL25B):c.83A>G (p.Tyr28Cys)not specified [RCV004416877]uncertain significance1156729187156729187Humanname
405659751CV3278394single nucleotide variantNM_152559.3(METTL27):c.115T>C (p.Tyr39His)not specified [RCV004416880]uncertain significance77384202673842026Humanname
405659754CV3278395single nucleotide variantNM_152559.3(METTL27):c.166G>A (p.Asp56Asn)not specified [RCV004416881]uncertain significance77384115673841156Humanname
405659819CV3278417single nucleotide variantNM_018396.3(METTL2B):c.168G>T (p.Glu56Asp)not specified [RCV004416903]uncertain significance7128477139128477139Humanname
405694858CV3282188single nucleotide variantNM_024109.4(METTL22):c.110G>A (p.Arg37Gln)not specified [RCV004424340]uncertain significance1686257758625775Humanname
407503283CV3450091single nucleotide variantNM_024109.4(METTL22):c.200G>T (p.Gly67Val)not specified [RCV004645423]uncertain significance1686287968628796Humanname
407503335CV3450112single nucleotide variantNM_152559.3(METTL27):c.204T>G (p.Ser68Arg)not specified [RCV004645439]uncertain significance77384111873841118Humanname
407503346CV3450118single nucleotide variantNM_018396.3(METTL2B):c.268T>A (p.Phe90Ile)not specified [RCV004645443]uncertain significance7128479223128479223Humanname
597679119CV3553520single nucleotide variantNM_024109.4(METTL22):c.109C>T (p.Arg37Trp)not specified [RCV004830633]uncertain significance1686257748625774Humanname
597679181CV3553529single nucleotide variantNM_024109.4(METTL22):c.223A>G (p.Lys75Glu)not specified [RCV004830640]likely benign1686288198628819Humanname
597679254CV3553544single nucleotide variantNM_032230.3(METTL25):c.1573C>T (p.Leu525=)not specified [RCV004830648]likely benign128247664482476644Humanname
597632964CV3553556single nucleotide variantNM_015997.4(METTL25B):c.91A>G (p.Ile31Val)not specified [RCV004830655]uncertain significance1156729195156729195Humanname
597632931CV3553564single nucleotide variantNM_152559.3(METTL27):c.289G>C (p.Asp97His)not specified [RCV004830661]uncertain significance77384051373840513Humanname
597632915CV3553567single nucleotide variantNM_152559.3(METTL27):c.256C>T (p.Arg86Trp)not specified [RCV004830664]uncertain significance77384054673840546Humanname
597632905CV3553570single nucleotide variantNM_181725.4(METTL2A):c.189C>G (p.Cys63Trp)not specified [RCV004830666]uncertain significance176242429762424297Humanname
597632899CV3553571single nucleotide variantNM_181725.4(METTL2A):c.190C>A (p.Gln64Lys)not specified [RCV004830667]uncertain significance176242429862424298Humanname
597632886CV3553573single nucleotide variantNM_181725.4(METTL2A):c.236A>C (p.Asn79Thr)not specified [RCV004830669]uncertain significance176242633262426332Humanname
598251969CV3982098single nucleotide variantNM_024109.4(METTL22):c.232C>T (p.Pro78Ser)not specified [RCV005366925]uncertain significance1686288288628828Humanname
598252229CV3982122single nucleotide variantNM_032230.3(METTL25):c.115G>T (p.Val39Leu)not specified [RCV005366936]uncertain significance128235868082358680Humanname
598226214CV3982124single nucleotide variantNM_015997.4(METTL25B):c.76G>T (p.Ala26Ser)not specified [RCV005380584]uncertain significance1156729180156729180Humanname
8689407CV97495single nucleotide variantNM_032230.3(METTL25):c.208G>A (p.Glu70Lys)not provided [RCV000122574]uncertain significance128235877382358773Humanname
156115945CV2209039single nucleotide variantNM_024109.4(METTL22):c.833A>G (p.Lys278Arg)not specified [RCV004093285]uncertain significance1686421338642133Humanname
156116665CV2209105single nucleotide variantNM_032230.3(METTL25):c.841T>A (p.Phe281Ile)not specified [RCV004093332]uncertain significance128239910482399104Humanname
155978198CV2214986single nucleotide variantNM_181725.4(METTL2A):c.794C>T (p.Ala265Val)not specified [RCV004084763]uncertain significance176244074162440741Humanname
156125604CV2223583single nucleotide variantNM_032230.3(METTL25):c.949C>A (p.Leu317Ile)not specified [RCV004091937]uncertain significance128239921282399212Humanname
155978059CV2246981single nucleotide variantNM_032366.5(METTL26):c.300G>C (p.Gln100His)not specified [RCV004112765]uncertain significance16635672635672Humanname
155985227CV2247843single nucleotide variantNM_018396.3(METTL2B):c.943G>A (p.Val315Met)not specified [RCV004121304]uncertain significance7128500929128500929Humanname
156031613CV2249836single nucleotide variantNM_032230.3(METTL25):c.973C>T (p.Pro325Ser)not specified [RCV004122583]uncertain significance128239923682399236Humanname
156171732CV2293199single nucleotide variantNM_024109.4(METTL22):c.745C>T (p.Leu249Phe)not specified [RCV004150710]uncertain significance1686391358639135Humanname
155944011CV2294952single nucleotide variantNM_032230.3(METTL25):c.425G>A (p.Gly142Asp)not specified [RCV004156100]likely benign128238981682389816Humanname
156084266CV2299051single nucleotide variantNM_018396.3(METTL2B):c.840G>C (p.Arg280Ser)not specified [RCV004158568]uncertain significance7128498066128498066Humanname
156208844CV2304376single nucleotide variantNM_024109.4(METTL22):c.685A>G (p.Thr229Ala)not specified [RCV004164484]uncertain significance1686352978635297Humanname
156282178CV2318560single nucleotide variantNM_032230.3(METTL25):c.445G>C (p.Glu149Gln)not specified [RCV004173466]uncertain significance128238983682389836Humanname
156286609CV2327252single nucleotide variantNM_032230.3(METTL25):c.598G>T (p.Val200Phe)not specified [RCV004174703]uncertain significance128239886182398861Humanname
156287599CV2336169single nucleotide variantNM_024109.4(METTL22):c.904G>A (p.Glu302Lys)not specified [RCV004189761]uncertain significance1686422048642204Humanname
155969263CV2337935single nucleotide variantNM_018396.3(METTL2B):c.695G>A (p.Arg232Gln)not specified [RCV004183940]uncertain significance7128493829128493829Humanname
156336966CV2342985single nucleotide variantNM_018396.3(METTL2B):c.883C>T (p.Arg295Cys)not specified [RCV004192589]uncertain significance7128498109128498109Humanname
156344258CV2349475single nucleotide variantNM_032230.3(METTL25):c.347C>T (p.Ser116Phe)not specified [RCV004201446]uncertain significance128238689082386890Humanname
156117506CV2349476single nucleotide variantNM_032230.3(METTL25):c.353A>T (p.Gln118Leu)not specified [RCV004201447]uncertain significance128238689682386896Humanname
156247722CV2357079single nucleotide variantNM_024109.4(METTL22):c.380G>C (p.Arg127Thr)not specified [RCV004206879]uncertain significance1686289768628976Humanname
156053139CV2360965single nucleotide variantNM_018396.3(METTL2B):c.571G>A (p.Val191Met)not specified [RCV004216164]uncertain significance7128480659128480659Humanname
156341947CV2368484single nucleotide variantNM_181725.4(METTL2A):c.880G>A (p.Gly294Ser)not specified [RCV004221285]uncertain significance176244490762444907Humanname
156384508CV2371466single nucleotide variantNM_024109.4(METTL22):c.463G>A (p.Asp155Asn)not specified [RCV004216724]uncertain significance1686290598629059Humanname
155927996CV2391624single nucleotide variantNM_181725.4(METTL2A):c.796A>T (p.Ile266Phe)not specified [RCV004241788]uncertain significance176244074362440743Humanname
156224024CV2395067single nucleotide variantNM_018396.3(METTL2B):c.847A>G (p.Lys283Glu)not specified [RCV004236752]uncertain significance7128498073128498073Humanname
155996718CV2398595single nucleotide variantNM_024109.4(METTL22):c.806T>C (p.Leu269Pro)not specified [RCV004237906]uncertain significance1686411648641164Humanname
329369527CV2424848single nucleotide variantNM_015997.4(METTL25B):c.133T>C (p.Trp45Arg)not specified [RCV004248733]uncertain significance1156732012156732012Humanname
329357673CV2427798single nucleotide variantNM_181725.4(METTL2A):c.905G>A (p.Arg302Gln)not specified [RCV004252576]uncertain significance176244493262444932Humanname
329373066CV2434093single nucleotide variantNM_024109.4(METTL22):c.319A>C (p.Thr107Pro)not specified [RCV004249992]uncertain significance1686289158628915Humanname
329397080CV2456580single nucleotide variantNM_015997.4(METTL25B):c.136G>C (p.Asp46His)not specified [RCV004277779]uncertain significance1156732015156732015Humanname
329362523CV2463965single nucleotide variantNM_152559.3(METTL27):c.383C>G (p.Pro128Arg)not specified [RCV004273684]uncertain significance77384041973840419Humanname
329380957CV2464411single nucleotide variantNM_018396.3(METTL2B):c.665T>C (p.Val222Ala)not specified [RCV004276342]uncertain significance7128488157128488157Humanname
329382523CV2465242single nucleotide variantNM_024109.4(METTL22):c.824C>T (p.Thr275Ile)not specified [RCV004281044]uncertain significance1686411828641182Humanname
401739378CV2673276single nucleotide variantNM_018396.3(METTL2B):c.449A>G (p.His150Arg)not specified [RCV004286077]uncertain significance7128479404128479404Humanname
401753837CV2685075single nucleotide variantNM_024109.4(METTL22):c.429G>T (p.Lys143Asn)not specified [RCV004289652]uncertain significance1686290258629025Humanname
401759598CV2687383single nucleotide variantNM_024109.4(METTL22):c.683G>A (p.Arg228Gln)not specified [RCV004300635]likely benign1686352958635295Humanname
401774878CV2688319single nucleotide variantNM_024109.4(METTL22):c.794A>G (p.Glu265Gly)not specified [RCV004299325]uncertain significance1686411528641152Humanname
401728636CV2693693single nucleotide variantNM_024109.4(METTL22):c.332T>C (p.Val111Ala)not specified [RCV004298023]likely benign1686289288628928Humanname
401749953CV2695888single nucleotide variantNM_032230.3(METTL25):c.493C>A (p.Leu165Met)not specified [RCV004308166]uncertain significance128238988482389884Humanname
401749885CV2704771single nucleotide variantNM_024109.4(METTL22):c.809A>C (p.Lys270Thr)not specified [RCV004307366]uncertain significance1686411678641167Humanname
401732945CV2705100single nucleotide variantNM_018396.3(METTL2B):c.917G>A (p.Gly306Asp)not specified [RCV004310005]uncertain significance7128500903128500903Humanname
401782900CV2707580single nucleotide variantNM_024109.4(METTL22):c.304G>A (p.Ala102Thr)not specified [RCV004306524]uncertain significance1686289008628900Humanname
401739527CV2708498single nucleotide variantNM_181725.4(METTL2A):c.631T>G (p.Cys211Gly)not specified [RCV004313587]uncertain significance176243525462435254Humanname
401767567CV2727206single nucleotide variantNM_181725.4(METTL2A):c.995C>T (p.Thr332Met)not specified [RCV004327340]uncertain significance176244858762448587Humanname
401873301CV2761417single nucleotide variantNM_024109.4(METTL22):c.599G>A (p.Arg200Gln)not specified [RCV004334596]likely benign1686352118635211Humanname
401884422CV2762882single nucleotide variantNM_181725.4(METTL2A):c.407T>C (p.Ile136Thr)not provided [RCV004703316]|not specified [RCV004340425]likely benign176242650362426503Humanname
401877189CV2764534single nucleotide variantNM_024109.4(METTL22):c.647C>T (p.Thr216Met)not specified [RCV004339089]uncertain significance1686352598635259Humanname
401862223CV2766624single nucleotide variantNM_181725.4(METTL2A):c.692C>T (p.Ser231Phe)not specified [RCV004347234]uncertain significance176244063962440639Humanname
401897620CV2776481single nucleotide variantNM_152559.3(METTL27):c.542A>C (p.Glu181Ala)not specified [RCV004355589]uncertain significance77383493973834939Humanname
401890919CV2778513single nucleotide variantNM_181725.4(METTL2A):c.694C>T (p.Arg232Trp)not specified [RCV004344172]uncertain significance176244064162440641Humanname
401896661CV2782294single nucleotide variantNM_181725.4(METTL2A):c.968A>C (p.Tyr323Ser)not specified [RCV004359255]uncertain significance176244775262447752Humanname
401866968CV2792571single nucleotide variantNM_032230.3(METTL25):c.614C>T (p.Ser205Phe)not specified [RCV004363603]uncertain significance128239887782398877Humanname
401908777CV2825761single nucleotide variantNM_152559.3(METTL27):c.686C>T (p.Pro229Leu)not provided [RCV003423614]likely benign77383479573834795Humanname
405694866CV3278336single nucleotide variantNM_024109.4(METTL22):c.329A>T (p.Glu110Val)not specified [RCV004424342]uncertain significance1686289258628925Humanname
405694872CV3278337single nucleotide variantNM_024109.4(METTL22):c.439A>G (p.Met147Val)not specified [RCV004424343]uncertain significance1686290358629035Humanname
405694878CV3278338single nucleotide variantNM_024109.4(METTL22):c.492C>G (p.Ser164Arg)not specified [RCV004424344]uncertain significance1686290888629088Humanname
405694884CV3278339single nucleotide variantNM_024109.4(METTL22):c.568G>A (p.Ala190Thr)not specified [RCV004424345]uncertain significance1686351808635180Humanname
405694889CV3278340single nucleotide variantNM_024109.4(METTL22):c.734G>A (p.Arg245Gln)not specified [RCV004424346]uncertain significance1686391248639124Humanname
405694892CV3278341single nucleotide variantNM_024109.4(METTL22):c.757C>G (p.Leu253Val)not specified [RCV004424347]uncertain significance1686391478639147Humanname
405695020CV3278365single nucleotide variantNM_032230.3(METTL25):c.518A>G (p.Tyr173Cys)not specified [RCV004424371]likely benign128238990982389909Humanname
405695024CV3278366single nucleotide variantNM_032230.3(METTL25):c.550G>A (p.Gly184Ser)not specified [RCV004424372]uncertain significance128239881382398813Humanname
405695029CV3278367single nucleotide variantNM_032230.3(METTL25):c.587A>G (p.Tyr196Cys)not specified [RCV004424373]uncertain significance128239885082398850Humanname
405659757CV3278396single nucleotide variantNM_152559.3(METTL27):c.325C>T (p.Pro109Ser)not specified [RCV004416882]uncertain significance77384047773840477Humanname
405659760CV3278397single nucleotide variantNM_152559.3(METTL27):c.340C>T (p.Arg114Cys)not specified [RCV004416883]uncertain significance77384046273840462Humanname
405659763CV3278398single nucleotide variantNM_152559.3(METTL27):c.400G>A (p.Ala134Thr)not specified [RCV004416884]uncertain significance77384010973840109Humanname
405659766CV3278399single nucleotide variantNM_152559.3(METTL27):c.401C>T (p.Ala134Val)not specified [RCV004416885]uncertain significance77384010873840108Humanname
405659770CV3278400single nucleotide variantNM_152559.3(METTL27):c.464A>G (p.His155Arg)not specified [RCV004416886]likely benign77384004573840045Humanname
405659773CV3278401single nucleotide variantNM_152559.3(METTL27):c.475C>A (p.Pro159Thr)not specified [RCV004416887]uncertain significance77384003473840034Humanname
405659776CV3278402single nucleotide variantNM_152559.3(METTL27):c.598C>A (p.Pro200Thr)not specified [RCV004416888]uncertain significance77383488373834883Humanname
405659779CV3278403single nucleotide variantNM_152559.3(METTL27):c.619G>A (p.Ala207Thr)not specified [RCV004416889]uncertain significance77383486273834862Humanname
405659781CV3278404single nucleotide variantNM_152559.3(METTL27):c.706G>A (p.Glu236Lys)not specified [RCV004416890]uncertain significance77383477573834775Humanname
405659788CV3278407single nucleotide variantNM_181725.4(METTL2A):c.383A>G (p.Asn128Ser)not specified [RCV004416893]likely benign176242647962426479Humanname
405659793CV3278408single nucleotide variantNM_181725.4(METTL2A):c.477G>C (p.Glu159Asp)not specified [RCV004416894]uncertain significance176242657362426573Humanname
405659796CV3278409single nucleotide variantNM_181725.4(METTL2A):c.614C>A (p.Pro205Gln)not specified [RCV004416895]uncertain significance176243523762435237Humanname
405659799CV3278410single nucleotide variantNM_181725.4(METTL2A):c.698G>C (p.Cys233Ser)not specified [RCV004416896]uncertain significance176244064562440645Humanname
405659808CV3278413single nucleotide variantNM_181725.4(METTL2A):c.904C>T (p.Arg302Trp)not specified [RCV004416899]uncertain significance176244493162444931Humanname
405659811CV3278414single nucleotide variantNM_181725.4(METTL2A):c.912A>T (p.Lys304Asn)not specified [RCV004416900]uncertain significance176244493962444939Humanname
405659825CV3278419single nucleotide variantNM_018396.3(METTL2B):c.602C>T (p.Thr201Met)not specified [RCV004416905]uncertain significance7128480690128480690Humanname
407425270CV3409421single nucleotide variantNM_001080510.5(METTL23):c.175C>T (p.Leu59=)not provided [RCV004585352]likely benign177673306876733068Humanname
407503273CV3450087single nucleotide variantNM_024109.4(METTL22):c.370G>A (p.Val124Met)not specified [RCV004645420]uncertain significance1686289668628966Humanname
407503280CV3450090single nucleotide variantNM_024109.4(METTL22):c.781G>A (p.Val261Ile)not specified [RCV004645422]uncertain significance1686411398641139Humanname
407503288CV3450093single nucleotide variantNM_024109.4(METTL22):c.616G>C (p.Gly206Arg)not specified [RCV004645425]uncertain significance1686352288635228Humanname
407503302CV3450097single nucleotide variantNM_032230.3(METTL25):c.940C>T (p.Leu314Phe)not specified [RCV004645429]uncertain significance128239920382399203Humanname
407518254CV3450102single nucleotide variantNM_032230.3(METTL25):c.414C>G (p.Asn138Lys)not specified [RCV004628806]likely benign128238695782386957Humanname
407503315CV3450103single nucleotide variantNM_032230.3(METTL25):c.434A>G (p.Gln145Arg)not specified [RCV004645433]uncertain significance128238982582389825Humanname
407518257CV3450104single nucleotide variantNM_015997.4(METTL25B):c.1293C>T (p.Tyr431=)not specified [RCV004628807]likely benign1156735896156735896Humanname
407518260CV3450109single nucleotide variantNM_015997.4(METTL25B):c.281C>T (p.Thr94Met)not specified [RCV004628808]uncertain significance1156732325156732325Humanname
407503331CV3450110single nucleotide variantNM_152559.3(METTL27):c.328G>A (p.Gly110Ser)not specified [RCV004645438]uncertain significance77384047473840474Humanname
407518263CV3450111single nucleotide variantNM_152559.3(METTL27):c.607C>T (p.Arg203Cys)not specified [RCV004628809]uncertain significance77383487473834874Humanname
407518269CV3450114single nucleotide variantNM_181725.4(METTL2A):c.778A>G (p.Ile260Val)not specified [RCV004628811]uncertain significance176244072562440725Humanname
407503343CV3450117single nucleotide variantNM_018396.3(METTL2B):c.920A>G (p.Gln307Arg)not specified [RCV004645442]uncertain significance7128500906128500906Humanname
597679080CV3553516single nucleotide variantNM_024109.4(METTL22):c.614G>A (p.Arg205Gln)not specified [RCV004830629]likely benign1686352268635226Humanname
597679089CV3553517single nucleotide variantNM_024109.4(METTL22):c.515A>G (p.Glu172Gly)not specified [RCV004830630]uncertain significance1686350398635039Humanname
597679101CV3553518single nucleotide variantNM_024109.4(METTL22):c.328G>A (p.Glu110Lys)not specified [RCV004830631]uncertain significance1686289248628924Humanname
597679108CV3553519single nucleotide variantNM_024109.4(METTL22):c.998C>T (p.Ser333Leu)not specified [RCV004830632]uncertain significance1686425538642553Humanname
597679129CV3553521single nucleotide variantNM_024109.4(METTL22):c.866C>A (p.Ser289Tyr)not specified [RCV004830634]uncertain significance1686421668642166Humanname
597679137CV3553522single nucleotide variantNM_024109.4(METTL22):c.877G>A (p.Asp293Asn)not specified [RCV004830635]likely benign1686421778642177Humanname
597635039CV3553525single nucleotide variantNM_024109.4(METTL22):c.620G>A (p.Cys207Tyr)not specified [RCV004824269]uncertain significance1686352328635232Humanname
597679162CV3553527single nucleotide variantNM_024109.4(METTL22):c.454G>A (p.Glu152Lys)not specified [RCV004830638]uncertain significance1686290508629050Humanname
597679191CV3553530single nucleotide variantNM_024109.4(METTL22):c.382C>T (p.Pro128Ser)not specified [RCV004830641]uncertain significance1686289788628978Humanname
597635044CV3553532single nucleotide variantNM_024109.4(METTL22):c.937G>A (p.Val313Met)not specified [RCV004824270]uncertain significance1686424928642492Humanname
597635065CV3553541single nucleotide variantNM_032230.3(METTL25):c.311G>A (p.Ser104Asn)not specified [RCV004824274]likely benign128238685482386854Humanname
597635069CV3553542single nucleotide variantNM_032230.3(METTL25):c.899C>T (p.Pro300Leu)not specified [RCV004824275]uncertain significance128239916282399162Humanname
597635075CV3553546single nucleotide variantNM_032230.3(METTL25):c.544G>A (p.Gly182Ser)not specified [RCV004824276]uncertain significance128239880782398807Humanname
597679275CV3553547single nucleotide variantNM_032230.3(METTL25):c.484A>T (p.Met162Leu)not specified [RCV004830650]uncertain significance128238987582389875Humanname
597635085CV3553550single nucleotide variantNM_015997.4(METTL25B):c.1125T>C (p.Tyr375=)not specified [RCV004824278]likely benign1156735728156735728Humanname
597632974CV3553553single nucleotide variantNM_015997.4(METTL25B):c.1276C>T (p.Leu426=)not specified [RCV004830653]likely benign1156735879156735879Humanname
597632970CV3553555single nucleotide variantNM_015997.4(METTL25B):c.1131G>A (p.Gln377=)not specified [RCV004830654]likely benign1156735734156735734Humanname
597632959CV3553557single nucleotide variantNM_015997.4(METTL25B):c.129C>A (p.Asn43Lys)not specified [RCV004830656]uncertain significance1156732008156732008Humanname
597632953CV3553558single nucleotide variantNM_015997.4(METTL25B):c.1266G>A (p.Thr422=)not specified [RCV004830657]likely benign1156735869156735869Humanname
597632920CV3553566single nucleotide variantNM_152559.3(METTL27):c.386A>C (p.Glu129Ala)not specified [RCV004830663]uncertain significance77384041673840416Humanname
597635119CV3553574single nucleotide variantNM_181725.4(METTL2A):c.826A>G (p.Asn276Asp)not specified [RCV004824284]uncertain significance176244485362444853Humanname
597632882CV3553575single nucleotide variantNM_181725.4(METTL2A):c.694C>G (p.Arg232Gly)not specified [RCV004830670]uncertain significance176244064162440641Humanname
597632860CV3553579single nucleotide variantNM_018396.3(METTL2B):c.820G>C (p.Ala274Pro)not specified [RCV004830674]uncertain significance7128498046128498046Humanname
598226471CV3982094single nucleotide variantNM_024109.4(METTL22):c.961G>A (p.Ala321Thr)not specified [RCV005380569]uncertain significance1686425168642516Humanname
598226465CV3982095single nucleotide variantNM_024109.4(METTL22):c.643G>A (p.Gly215Ser)not specified [RCV005380570]uncertain significance1686352558635255Humanname
598251958CV3982096single nucleotide variantNM_024109.4(METTL22):c.597C>A (p.Phe199Leu)not specified [RCV005366923]uncertain significance1686352098635209Humanname
598251974CV3982099single nucleotide variantNM_024109.4(METTL22):c.778A>G (p.Ile260Val)not specified [RCV005366926]likely benign1686411368641136Humanname
598252244CV3982110single nucleotide variantNM_032230.3(METTL25):c.707A>G (p.Asn236Ser)not specified [RCV005366933]likely benign128239897082398970Humanname
598226431CV3982111single nucleotide variantNM_032230.3(METTL25):c.304T>G (p.Leu102Val)not specified [RCV005380575]uncertain significance128238684782386847Humanname
598252239CV3982113single nucleotide variantNM_032230.3(METTL25):c.904C>A (p.Gln302Lys)not specified [RCV005366934]uncertain significance128239916782399167Humanname
598252224CV3982123single nucleotide variantNM_015997.4(METTL25B):c.1224C>A (p.Ala408=)not specified [RCV005366937]likely benign1156735827156735827Humanname
598252213CV3982128single nucleotide variantNM_152559.3(METTL27):c.595T>C (p.Trp199Arg)not specified [RCV005366939]uncertain significance77383488673834886Humanname
598252198CV3982132single nucleotide variantNM_181725.4(METTL2A):c.624T>G (p.Phe208Leu)not specified [RCV005366942]uncertain significance176243524762435247Humanname
598252193CV3982133single nucleotide variantNM_181725.4(METTL2A):c.548G>A (p.Arg183Gln)not specified [RCV005366943]uncertain significance176242664462426644Humanname
598226259CV3982136single nucleotide variantNM_018396.3(METTL2B):c.434C>T (p.Ser145Leu)not specified [RCV005380590]uncertain significance7128479389128479389Humanname
598252187CV3982137single nucleotide variantNM_018396.3(METTL2B):c.701T>A (p.Phe234Tyr)not specified [RCV005366944]uncertain significance7128493835128493835Humanname
598226266CV3982138single nucleotide variantNM_018396.3(METTL2B):c.758G>A (p.Ser253Asn)not specified [RCV005380591]uncertain significance7128493892128493892Humanname
13530399CV512323single nucleotide variantNM_001080510.5(METTL23):c.20C>T (p.Ala7Val)Inborn genetic diseases [RCV000622480]|Intellectual disability, autosomal recessive 44 [RCV001333721]|not provided [RCV002253542]uncertain significance177672973076729730Human2name
15200511CV756156single nucleotide variantNM_001080510.5(METTL23):c.255T>G (p.Ser85=)not provided [RCV000912867]|not specified [RCV001818843]benign|likely benign177673314876733148Humanname
8626333CV81477single nucleotide variantNM_018396.2(METTL2B):c.697T>G (p.Cys233Gly)Malignant melanoma [RCV000061555]not provided7128493831128493831Humanname
150520570CV1289830deletionNM_001080510.5(METTL23):c.238del (p.Thr80fs)not provided [RCV001730200]likely pathogenic177673313076733130Humanname
150542859CV1314983deletionNM_001080510.5(METTL23):c.126del (p.Lys42fs)Intellectual disability, autosomal recessive 44 [RCV001782436]likely pathogenic177673301776733017Human1name
156400159CV2199010single nucleotide variantNM_032230.3(METTL25):c.1294A>G (p.Lys432Glu)not specified [RCV004080418]uncertain significance128243090782430907Humanname
156399640CV2202124single nucleotide variantNM_032230.3(METTL25):c.1667C>T (p.Pro556Leu)not specified [RCV004078078]uncertain significance128247730082477300Humanname
156118602CV2219187single nucleotide variantNM_032230.3(METTL25):c.1528T>C (p.Tyr510His)not specified [RCV004093458]uncertain significance128245677682456776Humanname
155924525CV2220334single nucleotide variantNM_181725.4(METTL2A):c.1133G>T (p.Ser378Ile)not specified [RCV004095754]uncertain significance176244872562448725Humanname
155939284CV2225417single nucleotide variantNM_032230.3(METTL25):c.1706A>C (p.Tyr569Ser)not specified [RCV004100821]uncertain significance128247733982477339Humanname
156140930CV2247167single nucleotide variantNM_001010977.3(METTL21C):c.23C>G (p.Ala8Gly)not specified [RCV004114691]uncertain significance13102694476102694476Humanname
155997286CV2250538single nucleotide variantNM_181725.4(METTL2A):c.1046G>C (p.Arg349Pro)not specified [RCV004599495]uncertain significance176244863862448638Humanname
156072859CV2251515single nucleotide variantNM_032230.3(METTL25):c.1608G>C (p.Lys536Asn)not specified [RCV004117480]uncertain significance128247667982476679Humanname
156277368CV2255892single nucleotide variantNM_001127395.5(METTL21A):c.11T>G (p.Val4Gly)not specified [RCV004122045]uncertain significance2207624365207624365Humanname
155918443CV2279227single nucleotide variantNM_024109.4(METTL22):c.1088A>G (p.Glu363Gly)not specified [RCV004139755]uncertain significance1686446348644634Humanname
155993900CV2281374single nucleotide variantNM_024109.4(METTL22):c.1126C>T (p.Pro376Ser)not specified [RCV004141171]uncertain significance1686446728644672Humanname
155989351CV2282697single nucleotide variantNM_032230.3(METTL25):c.1199C>A (p.Ser400Tyr)not specified [RCV004141565]uncertain significance128240305082403050Humanname
155964160CV2282812single nucleotide variantNM_024109.4(METTL22):c.1082C>T (p.Ala361Val)not specified [RCV004141659]uncertain significance1686446288644628Humanname
155988153CV2285319single nucleotide variantNM_181725.4(METTL2A):c.1046G>A (p.Arg349Gln)not specified [RCV004139198]uncertain significance176244863862448638Humanname
156004241CV2290130single nucleotide variantNM_032230.3(METTL25):c.1619G>A (p.Arg540Gln)not specified [RCV004152799]uncertain significance128247669082476690Humanname
156194748CV2297144single nucleotide variantNM_032230.3(METTL25):c.1576C>T (p.Pro526Ser)not specified [RCV004151041]uncertain significance128247664782476647Humanname
156051022CV2328926single nucleotide variantNM_001123364.3(METTL24):c.71T>G (p.Leu24Trp)not specified [RCV004180229]uncertain significance6110358202110358202Humanname
156171975CV2337562single nucleotide variantNM_032230.3(METTL25):c.1196C>T (p.Thr399Ile)not specified [RCV004187986]uncertain significance128240304782403047Humanname
155967784CV2339236single nucleotide variantNM_181725.4(METTL2A):c.1032C>G (p.Asn344Lys)not specified [RCV004191477]uncertain significance176244862462448624Humanname
155974357CV2341424single nucleotide variantNM_024109.4(METTL22):c.1066C>T (p.Arg356Cys)not specified [RCV004188821]uncertain significance1686446128644612Humanname
155902817CV2356535single nucleotide variantNM_024109.4(METTL22):c.1198G>A (p.Ala400Thr)not specified [RCV004199446]uncertain significance1686461268646126Humanname
156189071CV2356566single nucleotide variantNM_181725.4(METTL2A):c.1061G>A (p.Arg354Gln)not specified [RCV004201936]uncertain significance176244865362448653Humanname
329370730CV2435669single nucleotide variantNM_032230.3(METTL25):c.1384C>T (p.Arg462Trp)not specified [RCV004254907]uncertain significance128243470482434704Humanname
329389571CV2445087single nucleotide variantNM_015997.4(METTL25B):c.380G>A (p.Arg127Gln)not specified [RCV004261691]uncertain significance1156732424156732424Humanname
329376736CV2460453single nucleotide variantNM_032230.3(METTL25):c.1646T>C (p.Met549Thr)not specified [RCV004268752]uncertain significance128247671782476717Humanname
329394600CV2461436single nucleotide variantNM_015997.4(METTL25B):c.964C>G (p.Leu322Val)not specified [RCV004267582]uncertain significance1156734336156734336Humanname
329399472CV2470113single nucleotide variantNM_018396.3(METTL2B):c.1042C>T (p.Arg348Cys)not specified [RCV004287369]uncertain significance7128501821128501821Humanname
401728042CV2685772single nucleotide variantNM_015997.4(METTL25B):c.656G>A (p.Arg219His)not specified [RCV004294763]uncertain significance1156734028156734028Humanname
401748545CV2702296single nucleotide variantNM_024109.4(METTL22):c.1166G>A (p.Arg389His)not specified [RCV004314625]uncertain significance1686447128644712Humanname
401857003CV2765202single nucleotide variantNM_015997.4(METTL25B):c.797C>G (p.Ala266Gly)not specified [RCV004339729]uncertain significance1156734169156734169Humanname
401893659CV2765393single nucleotide variantNM_015997.4(METTL25B):c.922T>C (p.Tyr308His)not specified [RCV004339894]uncertain significance1156734294156734294Humanname
401860978CV2772318single nucleotide variantNM_032230.3(METTL25):c.1472C>T (p.Thr491Ile)not specified [RCV004353334]uncertain significance128243878582438785Humanname
401892230CV2776015single nucleotide variantNM_032230.3(METTL25):c.1037T>C (p.Met346Thr)not specified [RCV004353126]likely benign128239930082399300Humanname
401883100CV2785532single nucleotide variantNM_018396.3(METTL2B):c.1127G>C (p.Ser376Thr)not specified [RCV004363054]uncertain significance7128501906128501906Humanname
401898298CV2791073single nucleotide variantNM_015997.4(METTL25B):c.379C>T (p.Arg127Trp)not specified [RCV004356461]uncertain significance1156732423156732423Humanname
405694935CV3278349single nucleotide variantNM_001123364.3(METTL24):c.37G>A (p.Val13Ile)not specified [RCV004424355]uncertain significance6110358236110358236Humanname
405694941CV3278350single nucleotide variantNM_001123364.3(METTL24):c.47G>T (p.Arg16Leu)not specified [RCV004424356]uncertain significance6110358226110358226Humanname
405694964CV3278355single nucleotide variantNM_001123364.3(METTL24):c.83G>A (p.Arg28Gln)not specified [RCV004424361]uncertain significance6110358190110358190Humanname
405694974CV3278357single nucleotide variantNM_032230.3(METTL25):c.1082C>T (p.Ser361Phe)not specified [RCV004424363]uncertain significance128239934582399345Humanname
405694980CV3278358single nucleotide variantNM_032230.3(METTL25):c.1309A>G (p.Met437Val)not specified [RCV004424364]uncertain significance128243092282430922Humanname
405694986CV3278359single nucleotide variantNM_032230.3(METTL25):c.1430G>A (p.Arg477His)not specified [RCV004424365]uncertain significance128243874382438743Humanname
405695000CV3278361single nucleotide variantNM_032230.3(METTL25):c.1678A>G (p.Thr560Ala)not specified [RCV004424367]uncertain significance128247731182477311Humanname
405695005CV3278362single nucleotide variantNM_032230.3(METTL25):c.1774A>G (p.Arg592Gly)not specified [RCV004424368]uncertain significance128247898682478986Humanname
405695010CV3278363single nucleotide variantNM_032230.3(METTL25):c.1777T>C (p.Cys593Arg)not specified [RCV004424369]uncertain significance128247898982478989Humanname
405695078CV3278376single nucleotide variantNM_015997.4(METTL25B):c.362G>A (p.Arg121Gln)not specified [RCV004424382]uncertain significance1156732406156732406Humanname
405695083CV3278377single nucleotide variantNM_015997.4(METTL25B):c.382A>G (p.Lys128Glu)not specified [RCV004424383]uncertain significance1156732426156732426Humanname
405695088CV3278378single nucleotide variantNM_015997.4(METTL25B):c.449A>G (p.Asp150Gly)not specified [RCV004424384]uncertain significance1156733004156733004Humanname
405695092CV3278379single nucleotide variantNM_015997.4(METTL25B):c.478G>A (p.Val160Met)not specified [RCV004424385]uncertain significance1156733033156733033Humanname
405659710CV3278381single nucleotide variantNM_015997.4(METTL25B):c.531G>T (p.Leu177Phe)not specified [RCV004416867]uncertain significance1156733415156733415Humanname
405659713CV3278382single nucleotide variantNM_015997.4(METTL25B):c.568G>A (p.Glu190Lys)not specified [RCV004416868]uncertain significance1156733452156733452Humanname
405659716CV3278383single nucleotide variantNM_015997.4(METTL25B):c.673G>A (p.Val225Met)not specified [RCV004416869]uncertain significance1156734045156734045Humanname
405659720CV3278384single nucleotide variantNM_015997.4(METTL25B):c.690C>A (p.Asp230Glu)not specified [RCV004416870]uncertain significance1156734062156734062Humanname
405659723CV3278385single nucleotide variantNM_015997.4(METTL25B):c.716T>C (p.Leu239Pro)not specified [RCV004416871]uncertain significance1156734088156734088Humanname
405659726CV3278386single nucleotide variantNM_015997.4(METTL25B):c.751C>G (p.Arg251Gly)not specified [RCV004416872]uncertain significance1156734123156734123Humanname
405659729CV3278387single nucleotide variantNM_015997.4(METTL25B):c.751C>T (p.Arg251Cys)not specified [RCV004416873]uncertain significance1156734123156734123Humanname
405659732CV3278388single nucleotide variantNM_015997.4(METTL25B):c.752G>A (p.Arg251His)not specified [RCV004416874]uncertain significance1156734124156734124Humanname
405659735CV3278389single nucleotide variantNM_015997.4(METTL25B):c.767G>A (p.Gly256Asp)not specified [RCV004416875]uncertain significance1156734139156734139Humanname
405659738CV3278390single nucleotide variantNM_015997.4(METTL25B):c.784G>A (p.Asp262Asn)not specified [RCV004416876]uncertain significance1156734156156734156Humanname
405659744CV3278392single nucleotide variantNM_015997.4(METTL25B):c.944G>A (p.Arg315Gln)not specified [RCV004416878]uncertain significance1156734316156734316Humanname
405659814CV3278415single nucleotide variantNM_018396.3(METTL2B):c.1025T>C (p.Val342Ala)not specified [RCV004416901]uncertain significance7128501804128501804Humanname
405659817CV3278416single nucleotide variantNM_018396.3(METTL2B):c.1033C>G (p.Leu345Val)not specified [RCV004416902]uncertain significance7128501812128501812Humanname
405694847CV3282186single nucleotide variantNM_024109.4(METTL22):c.1080C>A (p.His360Gln)not specified [RCV004424338]uncertain significance1686446268644626Humanname
405694862CV3282189single nucleotide variantNM_024109.4(METTL22):c.1157T>C (p.Val386Ala)not specified [RCV004424341]uncertain significance1686447038644703Humanname
407503263CV3450084single nucleotide variantNM_001010977.3(METTL21C):c.13C>A (p.Leu5Met)not specified [RCV004645417]uncertain significance13102694486102694486Humanname
407503270CV3450086single nucleotide variantNM_024109.4(METTL22):c.1052C>G (p.Ala351Gly)not specified [RCV004645419]uncertain significance1686445988644598Humanname
407518248CV3450088single nucleotide variantNM_024109.4(METTL22):c.1150C>G (p.Leu384Val)not specified [RCV004628804]uncertain significance1686446968644696Humanname
407518251CV3450099single nucleotide variantNM_032230.3(METTL25):c.1672A>T (p.Ile558Leu)not specified [RCV004628805]uncertain significance128247730582477305Humanname
407503307CV3450100single nucleotide variantNM_032230.3(METTL25):c.1349G>A (p.Arg450His)not specified [RCV004645431]uncertain significance128243096282430962Humanname
407503310CV3450101single nucleotide variantNM_032230.3(METTL25):c.1016C>T (p.Ala339Val)not specified [RCV004645432]uncertain significance128239927982399279Humanname
597650730CV3551941single nucleotide variantNM_001080510.5(METTL23):c.65C>G (p.Pro22Arg)not provided [RCV004820654]uncertain significance177672977576729775Humanname
597679145CV3553523single nucleotide variantNM_024109.4(METTL22):c.1129G>A (p.Val377Met)not specified [RCV004830636]uncertain significance1686446758644675Humanname
597679171CV3553528single nucleotide variantNM_024109.4(METTL22):c.1089G>C (p.Glu363Asp)not specified [RCV004830639]uncertain significance1686446358644635Humanname
597679200CV3553531single nucleotide variantNM_024109.4(METTL22):c.1112G>A (p.Arg371His)not specified [RCV004830642]uncertain significance1686446588644658Humanname
597679234CV3553540single nucleotide variantNM_032230.3(METTL25):c.1537C>T (p.Arg513Trp)not specified [RCV004830646]uncertain significance128245678582456785Humanname
597679244CV3553543single nucleotide variantNM_032230.3(METTL25):c.1385G>A (p.Arg462Gln)not specified [RCV004830647]uncertain significance128243470582434705Humanname
597679264CV3553545single nucleotide variantNM_032230.3(METTL25):c.1645A>T (p.Met549Leu)not specified [RCV004830649]uncertain significance128247671682476716Humanname
597635080CV3553548single nucleotide variantNM_032230.3(METTL25):c.1252T>C (p.Ser418Pro)not specified [RCV004824277]uncertain significance128240310382403103Humanname
597635090CV3553552single nucleotide variantNM_015997.4(METTL25B):c.934T>C (p.Tyr312His)not specified [RCV004824279]uncertain significance1156734306156734306Humanname
597632942CV3553560single nucleotide variantNM_015997.4(METTL25B):c.547G>A (p.Glu183Lys)not specified [RCV004830659]uncertain significance1156733431156733431Humanname
597632935CV3553561single nucleotide variantNM_015997.4(METTL25B):c.983G>T (p.Arg328Leu)not specified [RCV004830660]uncertain significance1156734355156734355Humanname
597635102CV3553562single nucleotide variantNM_015997.4(METTL25B):c.655C>T (p.Arg219Cys)not specified [RCV004824281]uncertain significance1156734027156734027Humanname
597635107CV3553563single nucleotide variantNM_015997.4(METTL25B):c.982C>G (p.Arg328Gly)not specified [RCV004824282]uncertain significance1156734354156734354Humanname
597632910CV3553568single nucleotide variantNM_181725.4(METTL2A):c.1092G>T (p.Trp364Cys)not specified [RCV004830665]uncertain significance176244868462448684Humanname
597635113CV3553569single nucleotide variantNM_181725.4(METTL2A):c.1027C>G (p.Gln343Glu)not specified [RCV004824283]uncertain significance176244861962448619Humanname
597632893CV3553572single nucleotide variantNM_181725.4(METTL2A):c.1010C>A (p.Ala337Asp)not specified [RCV004830668]uncertain significance176244860262448602Humanname
597632876CV3553576single nucleotide variantNM_018396.3(METTL2B):c.1084C>T (p.Arg362Trp)not specified [RCV004830671]uncertain significance7128501863128501863Humanname
597632866CV3553578single nucleotide variantNM_018396.3(METTL2B):c.1071A>C (p.Gln357His)not specified [RCV004830673]uncertain significance7128501850128501850Humanname
598251963CV3982097single nucleotide variantNM_024109.4(METTL22):c.1168C>T (p.Leu390Phe)not specified [RCV005366924]uncertain significance1686447148644714Humanname
598226452CV3982101single nucleotide variantNM_024109.4(METTL22):c.1061A>G (p.His354Arg)not specified [RCV005380572]uncertain significance1686446078644607Humanname
598252261CV3982105single nucleotide variantNM_001123364.3(METTL24):c.55C>T (p.Leu19Phe)not specified [RCV005366930]uncertain significance6110358218110358218Humanname
598226424CV3982112single nucleotide variantNM_032230.3(METTL25):c.1484G>A (p.Arg495Gln)not specified [RCV005380576]likely benign128245673282456732Humanname
598226416CV3982114single nucleotide variantNM_032230.3(METTL25):c.1282C>T (p.Arg428Cys)not specified [RCV005380577]likely benign128243089582430895Humanname
598226409CV3982115single nucleotide variantNM_032230.3(METTL25):c.1645A>G (p.Met549Val)not specified [RCV005380578]uncertain significance128247671682476716Humanname
598252234CV3982116single nucleotide variantNM_032230.3(METTL25):c.1114A>G (p.Ile372Val)not specified [RCV005366935]uncertain significance128239937782399377Humanname
598226178CV3982117single nucleotide variantNM_032230.3(METTL25):c.1321T>A (p.Leu441Ile)not specified [RCV005380579]uncertain significance128243093482430934Humanname
598226186CV3982118single nucleotide variantNM_032230.3(METTL25):c.1090A>T (p.Thr364Ser)not specified [RCV005380580]uncertain significance128239935382399353Humanname
598226220CV3982125single nucleotide variantNM_015997.4(METTL25B):c.887A>C (p.Tyr296Ser)not specified [RCV005380585]uncertain significance1156734259156734259Humanname
598252219CV3982126single nucleotide variantNM_015997.4(METTL25B):c.730A>G (p.Asn244Asp)not specified [RCV005366938]uncertain significance1156734102156734102Humanname
13532500CV512324duplicationNM_001080510.5(METTL23):c.150dup (p.Asp51fs)Inborn genetic diseases [RCV000624260]pathogenic177673304276733043Human1name
13532978CV512325deletionNM_001080510.5(METTL23):c.178del (p.Glu60fs)Inborn genetic diseases [RCV000624747]pathogenic177673307076733070Human1name
38598660CV800958duplicationNM_001080510.5(METTL23):c.178dup (p.Glu60fs)Intellectual disability, autosomal recessive 44 [RCV001251447]pathogenic177673306976733070Human1name
126731447CV1021704single nucleotide variantNM_001080510.5(METTL23):c.250A>G (p.Ile84Val)Inborn genetic diseases [RCV004639578]|Intellectual disability, autosomal recessive 44 [RCV001333722]likely benign|uncertain significance177673314376733143Human2name
155645328CV1710785single nucleotide variantNM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)Intellectual disability, autosomal recessive 44 [RCV002294572]uncertain significance177673315976733159Human1name
155799266CV1862431deletionNM_001080510.5(METTL23):c.409del (p.Ala137fs)Intellectual disability, autosomal recessive 44 [RCV002471837]likely pathogenic177673352276733522Human1name
156225504CV2203057single nucleotide variantNM_001080510.5(METTL23):c.188G>A (p.Arg63Gln)Inborn genetic diseases [RCV002644604]uncertain significance177673308176733081Human1name
156270104CV2240314single nucleotide variantNM_001010977.3(METTL21C):c.38G>A (p.Arg13His)not specified [RCV004112868]uncertain significance13102694461102694461Humanname
155974119CV2317830single nucleotide variantNM_001010977.3(METTL21C):c.56G>A (p.Ser19Asn)not specified [RCV004175071]uncertain significance13102694443102694443Humanname
156083094CV2394903single nucleotide variantNM_001123364.3(METTL24):c.233G>A (p.Ser78Asn)not specified [RCV004234557]uncertain significance6110358040110358040Humanname
156096838CV2399133single nucleotide variantNM_001123364.3(METTL24):c.119C>A (p.Ser40Tyr)not specified [RCV004246566]uncertain significance6110358154110358154Humanname
243053127CV2416269single nucleotide variantNM_001080510.5(METTL23):c.127T>C (p.Cys43Arg)not provided [RCV003149330]uncertain significance177673302076733020Humanname
329369371CV2450622single nucleotide variantNM_015997.4(METTL25B):c.1321C>T (p.Leu441Phe)not specified [RCV004265513]uncertain significance1156736646156736646Humanname
401774960CV2688347single nucleotide variantNM_001010977.3(METTL21C):c.88A>G (p.Lys30Glu)not specified [RCV004299349]likely benign13102694411102694411Humanname
401734901CV2688646single nucleotide variantNM_001010977.3(METTL21C):c.41G>A (p.Arg14Gln)not specified [RCV004301591]likely benign13102694458102694458Humanname
401769136CV2693313single nucleotide variantNM_001123364.3(METTL24):c.127C>G (p.Arg43Gly)not specified [RCV004295276]uncertain significance6110358146110358146Humanname
401749168CV2694578single nucleotide variantNM_001123364.3(METTL24):c.171C>A (p.His57Gln)not specified [RCV004298699]uncertain significance6110358102110358102Humanname
401729439CV2733046single nucleotide variantNM_001123364.3(METTL24):c.112C>T (p.Pro38Ser)not specified [RCV004331216]uncertain significance6110358161110358161Humanname
401855952CV2754148single nucleotide variantNM_001080510.5(METTL23):c.278C>T (p.Pro93Leu)Inborn genetic diseases [RCV003340114]uncertain significance177673317176733171Human1name
405694904CV3278343single nucleotide variantNM_001080510.5(METTL23):c.281A>T (p.Gln94Leu)Inborn genetic diseases [RCV004424349]uncertain significance177673317476733174Human1name
405694926CV3278347single nucleotide variantNM_001123364.3(METTL24):c.233G>C (p.Ser78Thr)not specified [RCV004424353]uncertain significance6110358040110358040Humanname
405695034CV3278368single nucleotide variantNM_015997.4(METTL25B):c.1017C>G (p.His339Gln)not specified [RCV004424374]uncertain significance1156734389156734389Humanname
405695038CV3278369single nucleotide variantNM_015997.4(METTL25B):c.1024C>G (p.Arg342Gly)not specified [RCV004424375]uncertain significance1156734396156734396Humanname
405695044CV3278370single nucleotide variantNM_015997.4(METTL25B):c.1051C>T (p.Arg351Trp)not specified [RCV004424376]uncertain significance1156734423156734423Humanname
405695050CV3278371single nucleotide variantNM_015997.4(METTL25B):c.1058G>A (p.Arg353Gln)not specified [RCV004424377]likely benign1156734430156734430Humanname
405695054CV3278372single nucleotide variantNM_015997.4(METTL25B):c.1072C>G (p.Arg358Gly)not specified [RCV004424378]uncertain significance1156734444156734444Humanname
405695059CV3278373single nucleotide variantNM_015997.4(METTL25B):c.1094C>A (p.Pro365His)not specified [RCV004424379]uncertain significance1156734466156734466Humanname
405695066CV3278374single nucleotide variantNM_015997.4(METTL25B):c.1178T>C (p.Leu393Pro)not specified [RCV004424380]uncertain significance1156735781156735781Humanname
405695072CV3278375single nucleotide variantNM_015997.4(METTL25B):c.1282C>T (p.Arg428Trp)not specified [RCV004424381]uncertain significance1156735885156735885Humanname
407518245CV3450083single nucleotide variantNM_001010977.3(METTL21C):c.62C>T (p.Pro21Leu)not specified [RCV004628803]uncertain significance13102694437102694437Humanname
407503318CV3450105single nucleotide variantNM_015997.4(METTL25B):c.1047C>G (p.Ile349Met)not specified [RCV004645434]uncertain significance1156734419156734419Humanname
407503321CV3450106single nucleotide variantNM_015997.4(METTL25B):c.1265C>T (p.Thr422Met)not specified [RCV004645435]uncertain significance1156735868156735868Humanname
407503325CV3450107single nucleotide variantNM_015997.4(METTL25B):c.1387C>G (p.Leu463Val)not specified [RCV004645436]uncertain significance1156736712156736712Humanname
407503328CV3450108single nucleotide variantNM_015997.4(METTL25B):c.1105G>A (p.Glu369Lys)not specified [RCV004645437]uncertain significance1156734477156734477Humanname
597635049CV3553534single nucleotide variantNM_001123364.3(METTL24):c.296C>T (p.Pro99Leu)not specified [RCV004824271]uncertain significance6110357977110357977Humanname
597632978CV3553551single nucleotide variantNM_015997.4(METTL25B):c.1069C>T (p.Arg357Cys)not specified [RCV004830652]uncertain significance1156734441156734441Humanname
597635096CV3553554single nucleotide variantNM_015997.4(METTL25B):c.1162C>A (p.Gln388Lys)not specified [RCV004824280]uncertain significance1156735765156735765Humanname
597632947CV3553559single nucleotide variantNM_015997.4(METTL25B):c.1400T>C (p.Leu467Pro)not specified [RCV004830658]uncertain significance1156736725156736725Humanname
598251942CV3982087single nucleotide variantNM_001127395.5(METTL21A):c.64G>C (p.Ala22Pro)not specified [RCV005366920]uncertain significance2207624312207624312Humanname
598252274CV3982103single nucleotide variantNM_001123364.3(METTL24):c.272C>A (p.Thr91Lys)not specified [RCV005366928]uncertain significance6110358001110358001Humanname
598226445CV3982108single nucleotide variantNM_001123364.3(METTL24):c.140C>A (p.Pro47Gln)not specified [RCV005380573]uncertain significance6110358133110358133Humanname
598226228CV3982127single nucleotide variantNM_015997.4(METTL25B):c.1283G>A (p.Arg428Gln)not specified [RCV005380586]uncertain significance1156735886156735886Humanname
13216806CV430015single nucleotide variantNM_001080510.5(METTL23):c.271C>G (p.Leu91Val)Inborn genetic diseases [RCV004639254]|Intellectual disability, autosomal recessive 44 [RCV004722837]|not specified [RCV000504220]likely benign|uncertain significance177673316476733164Human2name
13530773CV512328deletionNM_001080510.5(METTL23):c.504del (p.Glu169fs)Inborn genetic diseases [RCV000622770]|not provided [RCV002510934]likely pathogenic|uncertain significance177673361776733617Human1name
126728259CV1018380single nucleotide variantNM_001080510.5(METTL23):c.521G>T (p.Gly174Val)Intellectual disability, autosomal recessive 44 [RCV001332770]uncertain significance177673363476733634Human1name
126734936CV1021705single nucleotide variantNM_001080510.5(METTL23):c.319G>A (p.Glu107Lys)Intellectual disability, autosomal recessive 44 [RCV001334740]uncertain significance177673321276733212Human1name
126734942CV1021706single nucleotide variantNM_001080510.5(METTL23):c.417G>T (p.Trp139Cys)Intellectual disability, autosomal recessive 44 [RCV001334741]uncertain significance177673353076733530Human1name
126734946CV1021707single nucleotide variantNM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr)Intellectual disability, autosomal recessive 44 [RCV001334742]uncertain significance177673360976733609Human1name
9481102CV153756single nucleotide variantNM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)Intellectual disability, autosomal recessive 44 [RCV000133534]pathogenic177673336776733367Human1name
152081047CV1667075single nucleotide variantNM_001080510.5(METTL23):c.299C>T (p.Ser100Phe)not provided [RCV002211421]uncertain significance177673319276733192Humanname
10449906CV215545single nucleotide variantNM_001080510.5(METTL23):c.406A>G (p.Ser136Gly)Inborn genetic diseases [RCV004020495]|not specified [RCV000203093]uncertain significance177673337676733376Human1name
156154316CV2242283single nucleotide variantNM_001010977.3(METTL21C):c.190G>A (p.Ala64Thr)not specified [RCV004111303]uncertain significance13102690905102690905Humanname
156284433CV2291905single nucleotide variantNM_001123364.3(METTL24):c.715G>A (p.Val239Ile)not specified [RCV004158423]uncertain significance6110298993110298993Humanname
156162588CV2319561single nucleotide variantNM_001123364.3(METTL24):c.334A>G (p.Ile112Val)not specified [RCV004185121]uncertain significance6110322857110322857Humanname
156037054CV2332502single nucleotide variantNM_001127395.5(METTL21A):c.250G>C (p.Ala84Pro)not specified [RCV004196225]uncertain significance2207621815207621815Humanname
155980199CV2343435single nucleotide variantNM_001010977.3(METTL21C):c.262G>A (p.Gly88Arg)not specified [RCV004197509]uncertain significance13102690833102690833Humanname
156341938CV2368483single nucleotide variantNM_001123364.3(METTL24):c.314G>C (p.Arg105Pro)not specified [RCV004221284]uncertain significance6110357959110357959Humanname
156177294CV2374510single nucleotide variantNM_001123364.3(METTL24):c.314G>A (p.Arg105Gln)not specified [RCV004232013]uncertain significance6110357959110357959Humanname
329366791CV2441891single nucleotide variantNM_001080510.5(METTL23):c.360G>C (p.Met120Ile)Inborn genetic diseases [RCV003207948]uncertain significance177673333076733330Human1name
11525831CV247141single nucleotide variantNM_001080510.5(METTL23):c.496G>A (p.Asp166Asn)not provided [RCV000894285]|not specified [RCV000238877]benign|likely benign177673360976733609Humanname
329395729CV2473112single nucleotide variantNM_001080510.5(METTL23):c.403A>G (p.Arg135Gly)not provided [RCV003219096]uncertain significance177673337376733373Humanname
401755752CV2678930single nucleotide variantNM_001123364.3(METTL24):c.620G>A (p.Arg207His)not specified [RCV004294947]uncertain significance6110299088110299088Humanname
401752985CV2681078single nucleotide variantNM_001010977.3(METTL21C):c.115G>A (p.Gly39Arg)not specified [RCV004296138]uncertain significance13102694384102694384Humanname
401753472CV2684952single nucleotide variantNM_001123364.3(METTL24):c.491G>A (p.Cys164Tyr)not specified [RCV004296452]uncertain significance6110315408110315408Humanname
401772589CV2687745single nucleotide variantNM_001127395.5(METTL21A):c.265C>T (p.His89Tyr)not specified [RCV004302732]uncertain significance2207613438207613438Humanname
401883262CV2760774single nucleotide variantNM_001123364.3(METTL24):c.679C>T (p.Arg227Cys)not specified [RCV004336418]uncertain significance6110299029110299029Humanname
405694907CV3278344single nucleotide variantNM_001080510.5(METTL23):c.376G>A (p.Val126Ile)Inborn genetic diseases [RCV004424350]uncertain significance177673334676733346Human1name
405694929CV3278348single nucleotide variantNM_001123364.3(METTL24):c.325C>T (p.Arg109Trp)not specified [RCV004424354]uncertain significance6110322866110322866Humanname
405694945CV3278351single nucleotide variantNM_001123364.3(METTL24):c.646C>T (p.His216Tyr)not specified [RCV004424357]uncertain significance6110299062110299062Humanname
405694951CV3278352single nucleotide variantNM_001123364.3(METTL24):c.651T>G (p.Ile217Met)not specified [RCV004424358]uncertain significance6110299057110299057Humanname
405694956CV3278353single nucleotide variantNM_001123364.3(METTL24):c.698G>T (p.Arg233Leu)not specified [RCV004424359]uncertain significance6110299010110299010Humanname
405694960CV3278354single nucleotide variantNM_001123364.3(METTL24):c.767A>G (p.Asn256Ser)not specified [RCV004424360]uncertain significance6110298941110298941Humanname
405694970CV3278356single nucleotide variantNM_001123364.3(METTL24):c.937G>A (p.Val313Ile)not specified [RCV004424362]uncertain significance6110246110110246110Humanname
405694801CV3282178single nucleotide variantNM_001127395.5(METTL21A):c.236T>A (p.Val79Glu)not specified [RCV004424330]uncertain significance2207621829207621829Humanname
407503261CV3450082single nucleotide variantNM_001127395.5(METTL21A):c.245T>C (p.Val82Ala)not specified [RCV004645416]uncertain significance2207621820207621820Humanname
407503292CV3450094single nucleotide variantNM_001123364.3(METTL24):c.526C>T (p.Arg176Cys)not specified [RCV004645426]uncertain significance6110315373110315373Humanname
407503295CV3450095single nucleotide variantNM_001123364.3(METTL24):c.322C>G (p.Pro108Ala)not specified [RCV004645427]uncertain significance6110322869110322869Humanname
407503299CV3450096single nucleotide variantNM_001123364.3(METTL24):c.311G>A (p.Arg104His)not specified [RCV004645428]uncertain significance6110357962110357962Humanname
408392809CV3519578single nucleotide variantNM_001080510.5(METTL23):c.442T>C (p.Trp148Arg)not provided [RCV004763874]uncertain significance177673355576733555Humanname
597679026CV3553508single nucleotide variantNM_001127395.5(METTL21A):c.227C>T (p.Thr76Met)not specified [RCV004830623]uncertain significance2207621838207621838Humanname
597679036CV3553509single nucleotide variantNM_001127395.5(METTL21A):c.284G>A (p.Arg95Gln)not specified [RCV004830624]uncertain significance2207613419207613419Humanname
597682025CV3553533single nucleotide variantNM_001080510.5(METTL23):c.391A>G (p.Thr131Ala)Inborn genetic diseases [RCV004952060]uncertain significance177673336176733361Human1name
597679209CV3553535single nucleotide variantNM_001123364.3(METTL24):c.692A>G (p.Asp231Gly)not specified [RCV004830643]uncertain significance6110299016110299016Humanname
597635054CV3553536single nucleotide variantNM_001123364.3(METTL24):c.503G>T (p.Arg168Met)not specified [RCV004824272]uncertain significance6110315396110315396Humanname
597679218CV3553537single nucleotide variantNM_001123364.3(METTL24):c.311G>T (p.Arg104Leu)not specified [RCV004830644]uncertain significance6110357962110357962Humanname
597679226CV3553538single nucleotide variantNM_001123364.3(METTL24):c.704C>A (p.Pro235His)not specified [RCV004830645]uncertain significance6110299004110299004Humanname
597635060CV3553539single nucleotide variantNM_001123364.3(METTL24):c.524T>C (p.Ile175Thr)not specified [RCV004824273]uncertain significance6110315375110315375Humanname
598251952CV3982092single nucleotide variantNM_001010977.3(METTL21C):c.258T>A (p.Ser86Arg)not specified [RCV005366922]uncertain significance13102690837102690837Humanname
598252280CV3982102single nucleotide variantNM_001080510.5(METTL23):c.367A>G (p.Asn123Asp)Inborn genetic diseases [RCV005366927]uncertain significance177673333776733337Human1name
598252267CV3982104single nucleotide variantNM_001123364.3(METTL24):c.509A>G (p.Asn170Ser)not specified [RCV005366929]uncertain significance6110315390110315390Humanname
598252255CV3982106single nucleotide variantNM_001123364.3(METTL24):c.362C>T (p.Ala121Val)not specified [RCV005366931]uncertain significance6110322829110322829Humanname
598252249CV3982107single nucleotide variantNM_001123364.3(METTL24):c.685T>C (p.Ser229Pro)not specified [RCV005366932]uncertain significance6110299023110299023Humanname
617154294CV4022746single nucleotide variantNM_001080510.5(METTL23):c.302A>T (p.Asp101Val)Intellectual disability, autosomal recessive 44 [RCV005430097]uncertain significance177673319576733195Human1name
12905862CV413479single nucleotide variantNM_001080510.5(METTL23):c.569T>C (p.Leu190Pro)not provided [RCV000488094]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance177673368276733682Humanname
13215998CV430016single nucleotide variantNM_001080510.5(METTL23):c.348A>G (p.Ile116Met)Inborn genetic diseases [RCV004023386]|not specified [RCV000503090]uncertain significance177673331876733318Human1name
13532393CV512327single nucleotide variantNM_001080510.5(METTL23):c.493G>T (p.Glu165Ter)Inborn genetic diseases [RCV000624155]uncertain significance177673360676733606Human1name
8636362CV91585single nucleotide variantNM_001080510.5(METTL23):c.514C>T (p.Leu172Phe)not provided [RCV001768848]uncertain significance|not provided177673362776733627Humanname
156028821CV2205856single nucleotide variantNM_001010977.3(METTL21C):c.327G>C (p.Leu109Phe)not specified [RCV004076249]uncertain significance13102687013102687013Humanname
156401380CV2207121single nucleotide variantNM_001010977.3(METTL21C):c.782T>G (p.Leu261Arg)not specified [RCV004086071]uncertain significance13102686044102686044Humanname
156053366CV2269491single nucleotide variantNM_001127395.5(METTL21A):c.400C>T (p.Pro134Ser)not specified [RCV004124604]uncertain significance2207613303207613303Humanname
156012581CV2291273single nucleotide variantNM_001010977.3(METTL21C):c.364G>A (p.Gly122Arg)not specified [RCV004153557]uncertain significance13102686976102686976Humanname
156148877CV2321820single nucleotide variantNM_001010977.3(METTL21C):c.779T>C (p.Ile260Thr)not specified [RCV004179806]likely benign13102686047102686047Humanname
156265163CV2329510single nucleotide variantNM_001127395.5(METTL21A):c.463C>G (p.Leu155Val)not specified [RCV004180644]uncertain significance2207613240207613240Humanname
155925464CV2365585single nucleotide variantNM_001010977.3(METTL21C):c.682A>G (p.Ser228Gly)not specified [RCV004212106]uncertain significance13102686144102686144Humanname
401731437CV2693803single nucleotide variantNM_001010977.3(METTL21C):c.319G>A (p.Glu107Lys)not specified [RCV004298118]uncertain significance13102687021102687021Humanname
401864865CV2778095single nucleotide variantNM_001010977.3(METTL21C):c.359G>A (p.Gly120Asp)not specified [RCV004348041]uncertain significance13102686981102686981Humanname
401891802CV2779454single nucleotide variantNM_001010977.3(METTL21C):c.787T>C (p.Trp263Arg)not specified [RCV004351089]uncertain significance13102686039102686039Humanname
401888134CV2791269single nucleotide variantNM_001127395.5(METTL21A):c.316G>A (p.Val106Ile)not specified [RCV004356899]uncertain significance2207613387207613387Humanname
405694806CV3282179single nucleotide variantNM_001127395.5(METTL21A):c.310T>G (p.Ser104Ala)not specified [RCV004424331]uncertain significance2207613393207613393Humanname
405694812CV3282180single nucleotide variantNM_001127395.5(METTL21A):c.316G>C (p.Val106Leu)not specified [RCV004424332]uncertain significance2207613387207613387Humanname
405694819CV3282181single nucleotide variantNM_001127395.5(METTL21A):c.536G>A (p.Arg179Gln)not specified [RCV004424333]uncertain significance2207613167207613167Humanname
405694825CV3282182single nucleotide variantNM_001010977.3(METTL21C):c.316G>A (p.Ala106Thr)not specified [RCV004424334]likely benign13102687024102687024Humanname
405694830CV3282183single nucleotide variantNM_001010977.3(METTL21C):c.586G>A (p.Val196Ile)not specified [RCV004424335]uncertain significance13102686240102686240Humanname
405694835CV3282184single nucleotide variantNM_001010977.3(METTL21C):c.635T>C (p.Leu212Pro)not specified [RCV004424336]uncertain significance13102686191102686191Humanname
405694840CV3282185single nucleotide variantNM_001010977.3(METTL21C):c.754T>C (p.Ser252Pro)not specified [RCV004424337]uncertain significance13102686072102686072Humanname
407503254CV3450080single nucleotide variantNM_001127395.5(METTL21A):c.545A>G (p.Asn182Ser)not specified [RCV004645414]uncertain significance2207613158207613158Humanname
407503258CV3450081single nucleotide variantNM_001127395.5(METTL21A):c.624A>C (p.Glu208Asp)not specified [RCV004645415]uncertain significance2207613079207613079Humanname
407503267CV3450085single nucleotide variantNM_001010977.3(METTL21C):c.688G>A (p.Asp230Asn)not specified [RCV004645418]uncertain significance13102686138102686138Humanname
597635028CV3553510single nucleotide variantNM_001127395.5(METTL21A):c.560T>C (p.Leu187Pro)not specified [RCV004824267]uncertain significance2207613143207613143Humanname
597679044CV3553511single nucleotide variantNM_001010977.3(METTL21C):c.382A>T (p.Ile128Phe)not specified [RCV004830625]uncertain significance13102686958102686958Humanname
597679056CV3553512single nucleotide variantNM_001010977.3(METTL21C):c.456T>A (p.Asn152Lys)not specified [RCV004830626]uncertain significance13102686370102686370Humanname
597679064CV3553513single nucleotide variantNM_001010977.3(METTL21C):c.529G>A (p.Asp177Asn)not specified [RCV004830627]uncertain significance13102686297102686297Humanname
597679072CV3553514single nucleotide variantNM_001010977.3(METTL21C):c.487C>T (p.His163Tyr)not specified [RCV004830628]uncertain significance13102686339102686339Humanname
598226498CV3982088single nucleotide variantNM_001127395.5(METTL21A):c.367C>G (p.Leu123Val)not specified [RCV005380565]uncertain significance2207613336207613336Humanname
598251947CV3982089single nucleotide variantNM_001127395.5(METTL21A):c.643A>G (p.Lys215Glu)not specified [RCV005366921]uncertain significance2207613060207613060Humanname
598226485CV3982091single nucleotide variantNM_001010977.3(METTL21C):c.356T>C (p.Ile119Thr)not specified [RCV005380567]uncertain significance13102686984102686984Humanname
598226478CV3982093single nucleotide variantNM_001010977.3(METTL21C):c.301T>C (p.Tyr101His)not specified [RCV005380568]uncertain significance13102687039102687039Humanname
15108721CV713810duplicationNM_001010977.3(METTL21C):c.771dup (p.Lys258Ter)not provided [RCV000960545]likely benign13102686054102686055Humanname
127244884CV1064405duplicationNM_001080510.5(METTL23):c.149_150dup (p.Asp51fs)not provided [RCV001384262]pathogenic177673304176733042Humanname
150487963CV1208182deletionNM_001080510.5(METTL23):c.139_142del (p.Val47fs)not provided [RCV001592042]uncertain significance177673303076733033Humanname
9481100CV153754deletionNM_001080510.5(METTL23):c.169_172del (p.His57fs)Inborn genetic diseases [RCV000622976]|Intellectual disability [RCV004798784]|Intellectual disability, autosomal recessive 44 [RCV000133532]|not provided [RCV000598829]pathogenic|likely pathogenic177673306076733063Human4name
9481101CV153755deletionNM_001080510.5(METTL23):c.282_286del (p.Gln94fs)Intellectual disability, autosomal recessive 44 [RCV000133533]pathogenic177673317476733178Human1name
405003915CV3184514deletionNM_001080510.5(METTL23):c.204_207del (p.Met68fs)Intellectual disability, autosomal recessive 44 [RCV003883303]likely pathogenic177673309476733097Human1name
408367665CV3500212microsatelliteNM_001080510.5(METTL23):c.285TAT[1] (p.Ile97del)not provided [RCV004722255]likely pathogenic177673317876733180Humanname
13533111CV512326microsatelliteNM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)Inborn genetic diseases [RCV000624880]|Intellectual disability, autosomal recessive 44 [RCV003222062]|not provided [RCV002060687]conflicting interpretations of pathogenicity|uncertain significance177673316676733168Humanname
40887004CV974101deletionNM_001080510.5(METTL23):c.174_177del (p.Cys58fs)Inborn genetic diseases [RCV001266370]|Intellectual disability, autosomal recessive 44 [RCV001375998]|not provided [RCV001383867]pathogenic|likely pathogenic177673306476733067Human2name
156185924CV1867221deletionNM_001080510.5(METTL23):c.434_438del (p.Leu145fs)Intellectual disability [RCV004798946]|not provided [RCV002508867]pathogenic|likely pathogenic177673354476733548Human2name
12742403CV360333duplicationNM_001080510.5(METTL23):c.536_545dup (p.Ile183fs)not provided [RCV000413581]likely pathogenic177673364876733649Humanname
12895531CV410251deletionNM_001080510.5(METTL23):c.470_471del (p.Leu157fs)Intellectual disability, autosomal recessive 44 [RCV005252912]|not provided [RCV000486806]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity177673358376733584Human1name
13214100CV430017deletionNM_001080510.5(METTL23):c.492_495del (p.Glu165fs)not specified [RCV000500846]uncertain significance177673360376733606Humanname