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175 records found for search term Meis2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127233561CV1081038single nucleotide variantNM_170675.5(MEIS2):c.490-7G>ACardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001396173]likely benign153709373737093737Human1name
150453300CV1275415single nucleotide variantNM_170675.5(MEIS2):c.977+2T>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001706930]pathogenic153695032236950322Human1name
151235827CV1319253single nucleotide variantNM_170675.5(MEIS2):c.438+5G>Tnot provided [RCV001797198]uncertain significance153709555937095559Humanname
152116082CV1519369single nucleotide variantNM_170675.5(MEIS2):c.639+1G>ACardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002216148]pathogenic153709358037093580Human1name
152076347CV1542866single nucleotide variantNM_170675.5(MEIS2):c.13-19C>ACardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002130269]benign153709821837098218Human1name
156004896CV1984233single nucleotide variantNM_170675.5(MEIS2):c.13-19C>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002618620]likely benign153709821837098218Human1name
401797121CV2740887single nucleotide variantNM_170675.5(MEIS2):c.977+1G>Anot provided [RCV003322051]pathogenic153695032336950323Humanname
405050271CV2869177single nucleotide variantNM_170675.5(MEIS2):c.754+7G>CCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003592783]likely benign153708376437083764Human1name
405273731CV3198127single nucleotide variantNM_170675.5(MEIS2):c.388-1G>AMEIS2-related disorder [RCV004534567]likely pathogenic153709561537095615Humanname , trait
408391209CV3527925single nucleotide variantNM_170675.5(MEIS2):c.388-3C>Gnot provided [RCV004775197]uncertain significance153709561737095617Humanname
597970969CV3802384single nucleotide variantNM_170675.5(MEIS2):c.12+18A>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005141982]likely benign153709943737099437Human1name
598160191CV3897233single nucleotide variantNM_170675.5(MEIS2):c.977+4A>Tnot provided [RCV005368207]uncertain significance153695032036950320Humanname
13609068CV535328single nucleotide variantNM_170675.5(MEIS2):c.978-2A>Gnot provided [RCV000656287]pathogenic153689668836896688Humanname
38597630CV965333single nucleotide variantNM_170675.5(MEIS2):c.754+2T>Cnot provided [RCV001254811]likely pathogenic153708376937083769Humanname
126766653CV996217single nucleotide variantNM_170675.5(MEIS2):c.387+6G>CCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001301970]uncertain significance153709628337096283Human1name
152130950CV1631042single nucleotide variantNM_170675.5(MEIS2):c.246-17G>CCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002119079]likely benign153709644737096447Human1name
156014000CV2133911single nucleotide variantNM_170675.5(MEIS2):c.438+16C>TCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003017895]likely benign153709554837095548Human1name
401830967CV2748615single nucleotide variantNM_170675.5(MEIS2):c.1148-1G>TCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003330265]uncertain significance153689246036892460Human1name
405162928CV2970841single nucleotide variantNM_170675.5(MEIS2):c.490-16A>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757438]likely benign153709374637093746Human1name
597867634CV3858199single nucleotide variantNM_170675.5(MEIS2):c.1147+5G>CCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005196942]uncertain significance153689514636895146Human1name
598225617CV3985786single nucleotide variantNM_170675.5(MEIS2):c.640-29G>AInborn genetic diseases [RCV005380433]uncertain significance153708391437083914Human1name
152123392CV1594295single nucleotide variantNM_170675.5(MEIS2):c.1147+18G>ACardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002175878]likely benign153689513336895133Human1name
156243789CV2105491single nucleotide variantNM_170675.5(MEIS2):c.1147+17C>TCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002933298]likely benign153689513436895134Human1name
155799218CV1862407deletionNM_170675.5(MEIS2):c.1147+347delCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471813]uncertain significance153689480436894804Human1name
156449211CV1944469single nucleotide variantNM_170675.5(MEIS2):c.1147+356G>ACardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003121324]uncertain significance153689479536894795Human1name
156271629CV2035829microsatelliteNM_170675.5(MEIS2):c.388-17CT[2]Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002770064]benign153709562637095627Humanname
156320605CV2100960single nucleotide variantNM_170675.5(MEIS2):c.1147+359A>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002899263]benign|uncertain significance153689479236894792Human1name
405164688CV2998384single nucleotide variantNM_170675.5(MEIS2):c.1147+344A>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757595]uncertain significance153689480736894807Human1name
405131520CV3115108single nucleotide variantNM_170675.5(MEIS2):c.1147+355G>TCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003815953]uncertain significance153689479636894796Human1name
150510111CV1286682single nucleotide variantNM_170675.5(MEIS2):c.755-20642A>Gnot provided [RCV001720917]benign153705760137057601Humanname
151663539CV1334018single nucleotide variantNM_170675.5(MEIS2):c.755-11878A>GCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001839192]uncertain significance153704883737048837Human1name
156244627CV1992709single nucleotide variantNM_170675.5(MEIS2):c.6G>A (p.Ala2=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002627251]likely benign153709946137099461Human1name
127300046CV1157434single nucleotide variantNM_170675.5(MEIS2):c.24G>T (p.Leu8=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001513952]benign153709818837098188Human1name
597912693CV3778308single nucleotide variantNM_170675.5(MEIS2):c.36C>A (p.Gly12=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005128847]likely benign153709817637098176Human1name
13607719CV529250single nucleotide variantNM_170675.5(MEIS2):c.96G>T (p.Pro32=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639623]likely benign153709811637098116Human1name
15145522CV714399single nucleotide variantNM_170675.5(MEIS2):c.60C>G (p.Pro20=)not provided [RCV000967012]likely benign153709815237098152Humanname
15131340CV770114single nucleotide variantNM_170675.5(MEIS2):c.39G>A (p.Gly13=)not provided [RCV000942206]likely benign153709817337098173Humanname
151788695CV1480149single nucleotide variantNM_170675.5(MEIS2):c.17A>C (p.Asp6Ala)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001899021]uncertain significance153709819537098195Human1name
152096017CV1583321single nucleotide variantNM_170675.5(MEIS2):c.120C>T (p.Asn40=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002132639]|not provided [RCV003408140]likely benign153709809237098092Human1name
401937828CV2796775single nucleotide variantNM_170675.5(MEIS2):c.15C>G (p.Tyr5Ter)MEIS2-related disorder [RCV004531592]uncertain significance153709819737098197Humanname , trait
405167484CV3020402single nucleotide variantNM_170675.5(MEIS2):c.132G>T (p.Pro44=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757866]uncertain significance153709808037098080Human1name
405261192CV3212528single nucleotide variantNM_170675.5(MEIS2):c.153C>T (p.Tyr51=)MEIS2-related disorder [RCV004544068]likely benign153709805937098059Humanname , trait
405279020CV3217317single nucleotide variantNM_170675.5(MEIS2):c.223C>A (p.Arg75=)MEIS2-related disorder [RCV004542459]likely benign153709798937097989Humanname , trait
597868575CV3838766single nucleotide variantNM_170675.5(MEIS2):c.18T>A (p.Asp6Glu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005176062]likely benign153709819437098194Human1name
597877276CV3860239single nucleotide variantNM_170675.5(MEIS2):c.105G>C (p.Pro35=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005198448]likely benign153709810737098107Human1name
15172932CV726019single nucleotide variantNM_170675.5(MEIS2):c.237G>T (p.Ala79=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001432312]likely benign153709797537097975Human1name
15159413CV754397single nucleotide variantNM_170675.5(MEIS2):c.150C>T (p.His50=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002066017]likely benign153709806237098062Human1name
127299544CV1124289single nucleotide variantNM_170675.5(MEIS2):c.603A>G (p.Glu201=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001453616]likely benign153709361737093617Human1name
151709778CV1433187single nucleotide variantNM_170675.5(MEIS2):c.780T>G (p.Ala260=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001994907]likely benign153703693437036934Human1name
152045587CV1556146single nucleotide variantNM_170675.5(MEIS2):c.897C>T (p.Leu299=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002206887]likely benign153703681737036817Human1name
155642080CV1707235duplicationNM_170675.5(MEIS2):c.104dup (p.Val36fs)not provided [RCV002288165]pathogenic153709810737098108Humanname
156335785CV1906004single nucleotide variantNM_170675.5(MEIS2):c.327T>C (p.Ala109=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003090057]likely benign153709634937096349Human1name
156218542CV1960034single nucleotide variantNM_170675.5(MEIS2):c.579C>T (p.Asp193=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002575434]likely benign153709364137093641Human1name
156264419CV2282660single nucleotide variantNM_170675.5(MEIS2):c.52G>C (p.Gly18Arg)Inborn genetic diseases [RCV002831916]uncertain significance153709816037098160Human1name
401935026CV2798157single nucleotide variantNM_170675.5(MEIS2):c.855A>G (p.Lys285=)MEIS2-related disorder [RCV004539015]uncertain significance153703685937036859Humanname , trait
404999080CV2850457single nucleotide variantNM_170675.5(MEIS2):c.582C>A (p.Gly194=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003493078]uncertain significance153709363837093638Human1name
405054893CV2893932single nucleotide variantNM_170675.5(MEIS2):c.330C>T (p.Gly110=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003593207]likely benign153709634637096346Human1name
405260777CV3204344single nucleotide variantNM_170675.5(MEIS2):c.813T>C (p.Asp271=)MEIS2-related disorder [RCV004542409]likely benign153703690137036901Humanname , trait
597971765CV3802692single nucleotide variantNM_170675.5(MEIS2):c.615C>T (p.Gly205=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005142290]likely benign153709360537093605Human1name
598122796CV3889948deletionNM_170675.5(MEIS2):c.170del (p.His57fs)Syndromic intellectual disability [RCV005250465]likely pathogenic153709804237098042Human1name
598241497CV3985789single nucleotide variantNM_170675.5(MEIS2):c.37G>A (p.Gly13Arg)Inborn genetic diseases [RCV005364824]uncertain significance153709817537098175Human1name
13211529CV426091single nucleotide variantNM_170675.5(MEIS2):c.38G>A (p.Gly13Glu)not provided [RCV000497572]uncertain significance153709817437098174Humanname
13607724CV528769single nucleotide variantNM_170675.5(MEIS2):c.732C>T (p.Ser244=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639620]|MEIS2-related disorder [RCV004533340]benign153708379337083793Human1name , trait
13607721CV528776single nucleotide variantNM_170675.5(MEIS2):c.507T>C (p.Asp169=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639622]|MEIS2-related disorder [RCV004544846]benign153709371337093713Human1name , trait
13607723CV529104single nucleotide variantNM_170675.5(MEIS2):c.471T>C (p.His157=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001433579]|MEIS2-related disorder [RCV004533341]|not provided [RCV003403473]likely benign153709454537094545Human1name , trait
15142811CV693659single nucleotide variantNM_170675.5(MEIS2):c.939G>A (p.Ala313=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002064895]likely benign153695036236950362Human1name
15128509CV693660single nucleotide variantNM_170675.5(MEIS2):c.810G>A (p.Pro270=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001498818]|MEIS2-related disorder [RCV004541744]likely benign153703690437036904Human1name , trait
15141199CV693661single nucleotide variantNM_170675.5(MEIS2):c.657A>G (p.Arg219=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000877630]likely benign153708386837083868Human1name
15147414CV693662single nucleotide variantNM_170675.5(MEIS2):c.630C>T (p.Leu210=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001520384]benign153709359037093590Human1name
15188210CV703142single nucleotide variantNM_170675.5(MEIS2):c.915C>T (p.Ser305=)not provided [RCV000953814]likely benign153695038636950386Humanname
15186989CV739570single nucleotide variantNM_170675.5(MEIS2):c.687A>C (p.Ser229=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000908966]likely benign153708383837083838Human1name
15200749CV754396single nucleotide variantNM_170675.5(MEIS2):c.561C>T (p.Leu187=)not provided [RCV000912934]likely benign153709365937093659Humanname
15107170CV784898single nucleotide variantNM_170675.5(MEIS2):c.495C>T (p.His165=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001496761]likely benign153709372537093725Human1name
26915729CV842239single nucleotide variantNM_170675.5(MEIS2):c.97A>G (p.Ile33Val)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001055905]uncertain significance153709811537098115Human1name
126738419CV1021307single nucleotide variantNM_170675.5(MEIS2):c.167C>A (p.Pro56Gln)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001335516]uncertain significance153709804537098045Human1name
153301016CV1688856single nucleotide variantNM_170675.5(MEIS2):c.133C>G (p.Leu45Val)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002266584]uncertain significance153709807937098079Human1name
153346356CV1691674single nucleotide variantNM_170675.5(MEIS2):c.236C>G (p.Ala79Gly)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002273157]uncertain significance153709797637097976Human1name
156091663CV1984115single nucleotide variantNM_170675.5(MEIS2):c.202G>T (p.Ala68Ser)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002621880]benign153709801037098010Human1name
156133974CV2235485single nucleotide variantNM_170675.5(MEIS2):c.220A>C (p.Lys74Gln)Inborn genetic diseases [RCV002763113]uncertain significance153709799237097992Human1name
329954611CV2670551single nucleotide variantNM_170675.5(MEIS2):c.187G>A (p.Ala63Thr)not provided [RCV003235818]uncertain significance153709802537098025Humanname
401723595CV2737854single nucleotide variantNM_170675.5(MEIS2):c.242A>T (p.Tyr81Phe)not provided [RCV003315026]uncertain significance153709797037097970Humanname
401934281CV2817398single nucleotide variantNM_170675.5(MEIS2):c.103C>T (p.Pro35Ser)not provided [RCV003411144]uncertain significance153709810937098109Humanname
405139148CV3125520single nucleotide variantNM_170675.5(MEIS2):c.1065A>G (p.Gln355=)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003816627]likely benign153689523336895233Human1name
407502661CV3449833single nucleotide variantNM_170675.5(MEIS2):c.111C>A (p.His37Gln)Inborn genetic diseases [RCV004645220]uncertain significance153709810137098101Human1name
596921584CV3535206single nucleotide variantNM_170675.5(MEIS2):c.138C>A (p.His46Gln)not provided [RCV004784765]uncertain significance153709807437098074Humanname
597657265CV3731660single nucleotide variantNM_170675.5(MEIS2):c.272T>C (p.Leu91Pro)not provided [RCV005001841]uncertain significance153709640437096404Humanname
13786180CV550369duplicationNM_170675.5(MEIS2):c.825dup (p.Arg276fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000677393]pathogenic153703688837036889Human1name
14724297CV643112single nucleotide variantNM_170675.5(MEIS2):c.142A>G (p.Thr48Ala)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000814723]uncertain significance153709807037098070Human1name
28878973CV860153deletionNM_170675.5(MEIS2):c.716del (p.Gly239fs)not provided [RCV001090729]likely pathogenic153708380937083809Humanname
126738423CV1021306single nucleotide variantNM_170675.5(MEIS2):c.877G>C (p.Ala293Pro)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001335517]likely pathogenic153703683737036837Human1name
126915403CV1048899single nucleotide variantNM_170675.5(MEIS2):c.733G>A (p.Gly245Arg)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001370896]uncertain significance153708379237083792Human1name
127293680CV1157433single nucleotide variantNM_170675.5(MEIS2):c.580G>A (p.Gly194Ser)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001511421]benign153709364037093640Human1name
150429482CV1189230single nucleotide variantNM_170675.5(MEIS2):c.992G>A (p.Arg331Lys)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001563674]pathogenic153689667236896672Human1name
150470214CV1209278single nucleotide variantNM_170675.5(MEIS2):c.655C>T (p.Arg219Ter)not provided [RCV001588389]pathogenic153708387037083870Humanname
151350820CV1324844deletionNM_170675.5(MEIS2):c.1042del (p.Leu348fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001809289]uncertain significance153689525636895256Human1name
151350663CV1325626single nucleotide variantNM_170675.5(MEIS2):c.968T>G (p.Val323Gly)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001814913]likely pathogenic153695033336950333Human1name
151755774CV1334781single nucleotide variantNM_170675.5(MEIS2):c.751C>T (p.Gln251Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001843737]pathogenic153708377437083774Human1name
151713371CV1404718single nucleotide variantNM_170675.5(MEIS2):c.607C>A (p.Leu203Ile)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002011168]uncertain significance153709361337093613Human1name
151816960CV1507095single nucleotide variantNM_170675.5(MEIS2):c.505G>A (p.Asp169Asn)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001955153]uncertain significance153709371537093715Human1name
153001564CV1679466single nucleotide variantNM_170675.5(MEIS2):c.903T>A (p.His301Gln)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002250855]uncertain significance153695039836950398Human1name
153002422CV1685541single nucleotide variantNM_170675.5(MEIS2):c.916G>A (p.Glu306Lys)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003101438]|not provided [RCV002259528]pathogenic|likely pathogenic153695038536950385Human1name
153348593CV1692631single nucleotide variantNM_170675.5(MEIS2):c.973A>G (p.Asn325Asp)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002274486]likely pathogenic153695032836950328Human1name
155266980CV1704909single nucleotide variantNM_170675.5(MEIS2):c.907T>A (p.Tyr303Asn)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002285208]likely pathogenic153695039436950394Human1name
155643778CV1708081single nucleotide variantNM_170675.5(MEIS2):c.999A>C (p.Arg333Ser)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002290069]likely pathogenic153689666536896665Human1name
155715229CV1780377single nucleotide variantNM_170675.5(MEIS2):c.574A>G (p.Arg192Gly)not provided [RCV002305981]uncertain significance153709364637093646Humanname
155798238CV1861914single nucleotide variantNM_170675.5(MEIS2):c.986A>G (p.Asn329Ser)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471317]likely pathogenic153689667836896678Human1name
155798424CV1861996deletionNM_170675.5(MEIS2):c.1114del (p.Asp372fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471399]uncertain significance153689518436895184Human1name
155946014CV1935629single nucleotide variantNM_170675.5(MEIS2):c.772A>G (p.Ser258Gly)not provided [RCV002511377]uncertain significance153703694237036942Humanname
156383853CV2220226duplicationNM_170675.5(MEIS2):c.1271dup (p.Met425fs)Inborn genetic diseases [RCV002723094]uncertain significance153689233536892336Human1name
156334167CV2267067single nucleotide variantNM_170675.5(MEIS2):c.809C>T (p.Pro270Leu)Inborn genetic diseases [RCV002835549]uncertain significance153703690537036905Human1name
155986931CV2275381single nucleotide variantNM_170675.5(MEIS2):c.742A>G (p.Ser248Gly)Inborn genetic diseases [RCV002864160]uncertain significance153708378337083783Human1name
155921414CV2276301single nucleotide variantNM_170675.5(MEIS2):c.760G>T (p.Gly254Cys)Inborn genetic diseases [RCV002859718]uncertain significance153703695437036954Human1name
155992838CV2281252single nucleotide variantNM_170675.5(MEIS2):c.460C>A (p.Leu154Ile)Inborn genetic diseases [RCV002882584]|not provided [RCV003324868]uncertain significance153709455637094556Human1name
243054552CV2410301single nucleotide variantNM_170675.5(MEIS2):c.610T>G (p.Ser204Ala)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003131586]uncertain significance153709361037093610Human1name
401764367CV2708870single nucleotide variantNM_170675.5(MEIS2):c.307C>A (p.Pro103Thr)Inborn genetic diseases [RCV003281823]uncertain significance153709636937096369Human1name
401796533CV2740698single nucleotide variantNM_170675.5(MEIS2):c.994A>G (p.Arg332Gly)not provided [RCV003321368]likely pathogenic153689667036896670Humanname
401917124CV2829675single nucleotide variantNM_170675.5(MEIS2):c.716G>C (p.Gly239Ala)not provided [RCV003443719]uncertain significance153708380937083809Humanname
401913210CV2830259single nucleotide variantNM_170675.5(MEIS2):c.991A>G (p.Arg331Gly)not provided [RCV003441474]pathogenic153689667336896673Humanname
405039627CV2910277single nucleotide variantNM_170675.5(MEIS2):c.904C>A (p.Pro302Thr)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003591530]uncertain significance153695039736950397Human1name
405262402CV3189271single nucleotide variantNM_170675.5(MEIS2):c.412T>C (p.Ser138Pro)MEIS2-related disorder [RCV004539263]uncertain significance153709559037095590Humanname , trait
407426682CV3411482single nucleotide variantNM_170675.5(MEIS2):c.367A>T (p.Ile123Phe)not provided [RCV004590660]uncertain significance153709630937096309Humanname
408387001CV3518648single nucleotide variantNM_170675.5(MEIS2):c.446A>G (p.Gln149Arg)not provided [RCV004760967]uncertain significance153709457037094570Humanname
408393119CV3519709single nucleotide variantNM_170675.5(MEIS2):c.334G>A (p.Asp112Asn)not provided [RCV004764005]uncertain significance153709634237096342Humanname
408388602CV3520828single nucleotide variantNM_170675.5(MEIS2):c.446A>C (p.Gln149Pro)not provided [RCV004761661]uncertain significance153709457037094570Humanname
408388772CV3529095single nucleotide variantNM_170675.5(MEIS2):c.635A>G (p.Asp212Gly)not provided [RCV004773917]uncertain significance153709358537093585Humanname
596924703CV3532364single nucleotide variantNM_170675.5(MEIS2):c.434A>G (p.Asn145Ser)not provided [RCV004777475]uncertain significance153709556837095568Humanname
596921823CV3535449single nucleotide variantNM_170675.5(MEIS2):c.454C>T (p.Gln152Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004785004]pathogenic153709456237094562Human1name
596922500CV3537257single nucleotide variantNM_170675.5(MEIS2):c.707C>G (p.Ser236Cys)not provided [RCV004787227]uncertain significance153708381837083818Humanname
596945021CV3543678single nucleotide variantNM_170675.5(MEIS2):c.308C>T (p.Pro103Leu)not provided [RCV004801800]uncertain significance153709636837096368Humanname
597708997CV3732869single nucleotide variantNM_170675.5(MEIS2):c.654G>A (p.Trp218Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005051227]pathogenic153708387137083871Human1name
597715476CV3733192single nucleotide variantNM_170675.5(MEIS2):c.889C>T (p.Gln297Ter)not provided [RCV005052381]pathogenic153703682537036825Humanname
597952748CV3798826single nucleotide variantNM_170675.5(MEIS2):c.445C>G (p.Gln149Glu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005136400]uncertain significance153709457137094571Human1name
597963577CV3819660single nucleotide variantNM_170675.5(MEIS2):c.704C>T (p.Pro235Leu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005164376]benign153708382137083821Human1name
597965871CV3845038single nucleotide variantNM_170675.5(MEIS2):c.719A>G (p.His240Arg)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005194366]benign153708380637083806Human1name
598218555CV3891679single nucleotide variantNM_170675.5(MEIS2):c.908A>G (p.Tyr303Cys)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005252522]likely pathogenic153695039336950393Human1name
598241494CV3985788single nucleotide variantNM_170675.5(MEIS2):c.562G>T (p.Val188Phe)Inborn genetic diseases [RCV005364823]uncertain significance153709365837093658Human1name
598201024CV4007546single nucleotide variantNM_170675.5(MEIS2):c.773G>A (p.Ser258Asn)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005398378]uncertain significance153703694137036941Human1name
12895627CV409211single nucleotide variantNM_170675.5(MEIS2):c.965A>T (p.Gln322Leu)not provided [RCV000487166]likely pathogenic153695033636950336Humanname
12894458CV409212single nucleotide variantNM_170675.5(MEIS2):c.905C>T (p.Pro302Leu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002221236]|not provided [RCV000482887]pathogenic|likely pathogenic153695039636950396Human1name
12907479CV415884single nucleotide variantNM_170675.5(MEIS2):c.611C>G (p.Ser204Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000490249]pathogenic153709360937093609Human1name
12913818CV422009single nucleotide variantNM_170675.5(MEIS2):c.987T>A (p.Asn329Lys)not provided [RCV000494298]likely pathogenic153689667736896677Humanname
13509843CV482063single nucleotide variantNM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004001218]|Inborn genetic diseases [RCV003159975]|not provided [RCV001696962]pathogenic|uncertain significance153709370037093700Human2name
14396096CV611792single nucleotide variantNM_170675.5(MEIS2):c.424G>T (p.Glu142Ter)not provided [RCV000760827]pathogenic153709557837095578Humanname
8635409CV90630single nucleotide variantNM_002399.3(MEIS2):c.811C>T (p.Pro271Ser)Malignant melanoma [RCV000070728]not provided153703686437036864Humanname
38596642CV963787single nucleotide variantNM_170675.5(MEIS2):c.964C>G (p.Gln322Glu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001252071]likely pathogenic153695033736950337Human1name
151811931CV1480872single nucleotide variantNM_170675.5(MEIS2):c.1031G>A (p.Arg344Gln)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001943992]uncertain significance153689663336896633Human1name
152979640CV1675683single nucleotide variantNM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002244273]likely pathogenic153689663936896639Human1name
156055556CV1935119single nucleotide variantNM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn)not specified [RCV002510407]uncertain significance153689523736895237Humanname
156272799CV2283687single nucleotide variantNM_170675.5(MEIS2):c.1416G>A (p.Met472Ile)Inborn genetic diseases [RCV002832415]likely benign153689219136892191Human1name
156017099CV2295492single nucleotide variantNM_170675.5(MEIS2):c.1365G>C (p.Gln455His)Inborn genetic diseases [RCV002884646]uncertain significance153689224236892242Human1name
156170232CV2296763single nucleotide variantNM_170675.5(MEIS2):c.1166G>C (p.Gly389Ala)Inborn genetic diseases [RCV002891359]likely benign153689244136892441Human1name
156293605CV2306346single nucleotide variantNM_170675.5(MEIS2):c.1324G>A (p.Gly442Arg)Inborn genetic diseases [RCV002897357]uncertain significance153689228336892283Human1name
156226537CV2401188single nucleotide variantNM_170675.5(MEIS2):c.1427C>T (p.Ala476Val)Inborn genetic diseases [RCV002805082]uncertain significance153689218036892180Human1name
329393105CV2449499single nucleotide variantNM_170675.5(MEIS2):c.1157G>A (p.Ser386Asn)Inborn genetic diseases [RCV003193002]uncertain significance153689245036892450Human1name
401934279CV2817396single nucleotide variantNM_170675.5(MEIS2):c.1341C>A (p.His447Gln)not provided [RCV003411142]uncertain significance153689226636892266Humanname
401934280CV2817397single nucleotide variantNM_170675.5(MEIS2):c.1262A>G (p.His421Arg)MEIS2-related disorder [RCV004536801]|not provided [RCV003411143]benign|likely benign153689234536892345Human1name , trait
405693513CV3281965single nucleotide variantNM_170675.5(MEIS2):c.1170C>G (p.Asp390Glu)Inborn genetic diseases [RCV004424117]uncertain significance153689243736892437Human1name
405693518CV3281966single nucleotide variantNM_170675.5(MEIS2):c.1273A>G (p.Met425Val)Inborn genetic diseases [RCV004424118]uncertain significance153689233436892334Human1name
405693531CV3281968single nucleotide variantNM_170675.5(MEIS2):c.1415T>C (p.Met472Thr)Inborn genetic diseases [RCV004424120]uncertain significance153689219236892192Human1name
405869529CV3396726single nucleotide variantNM_170675.5(MEIS2):c.1030C>T (p.Arg344Ter)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004566600]likely pathogenic153689663436896634Human1name
407518085CV3449832single nucleotide variantNM_170675.5(MEIS2):c.1309G>A (p.Ala437Thr)Inborn genetic diseases [RCV004628749]uncertain significance153689229836892298Human1name
408379755CV3505968single nucleotide variantNM_170675.5(MEIS2):c.1226C>T (p.Pro409Leu)MEIS2-related disorder [RCV004728646]uncertain significance153689238136892381Humanname , trait
597681925CV3556576single nucleotide variantNM_170675.5(MEIS2):c.1312A>G (p.Met438Val)Inborn genetic diseases [RCV004952046]likely benign153689229536892295Human1name
597699976CV3556578single nucleotide variantNM_170675.5(MEIS2):c.1247C>G (p.Pro416Arg)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005256992]|Inborn genetic diseases [RCV004956421]uncertain significance153689236036892360Human2name
597833099CV3734875single nucleotide variantNM_170675.5(MEIS2):c.1093C>T (p.Pro365Ser)not provided [RCV005054608]uncertain significance153689520536895205Humanname
598241483CV3985785single nucleotide variantNM_170675.5(MEIS2):c.1181A>G (p.Gln394Arg)Inborn genetic diseases [RCV005364821]uncertain significance153689242636892426Human1name
26919632CV842238single nucleotide variantNM_170675.5(MEIS2):c.1129A>C (p.Met377Leu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001059164]uncertain significance153689516936895169Human1name
11060105CV226843microsatelliteNM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000210625]|Cleft palate [RCV004798814]|Inborn genetic diseases [RCV001267141]|MEIS2-related disorder [RCV000509419]|not provided [RCV000494204]pathogenic|likely pathogenic|uncertain significance|not provided153689666436896666Humanname , trait
155907597CV2302246microsatelliteNM_170675.5(MEIS2):c.644CTT[2] (p.Ser217del)Inborn genetic diseases [RCV002902044]uncertain significance153708387337083875Humanname
243051466CV2415911deletionNM_170675.5(MEIS2):c.777_781del (p.Ala260fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003148529]likely pathogenic153703693337036937Human1name
21072633CV791440deletionNM_170675.5(MEIS2):c.934_937del (p.Leu312fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000989283]|Inborn genetic diseases [RCV001265871]|not provided [RCV005054285]pathogenic|likely pathogenic153695036436950367Human2name
329848333CV2667978indelNM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003229520]pathogenic153709808637098090Humanname
401944587CV2831793deletionNM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003445439]likely pathogenic153709369537093695Human1name
596944344CV3543160deletionNM_170675.5(MEIS2):c.1010_1012del (p.Pro337_Met338delinsLeu)Cleft palate [RCV004799032]likely pathogenic153689665236896654Human2name
13820590CV573216inversionNM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu)Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000687546]|not provided [RCV003222101]uncertain significance153709364237093644Humanname