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


112 records found for search term Meox1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405291662CV3205914single nucleotide variantNM_004527.4(MEOX1):c.-9G>AMEOX1-related disorder [RCV003964026]likely benign174366154343661543Humanname , trait , alternate_id
152123227CV1546131single nucleotide variantNM_004527.4(MEOX1):c.642+4C>Anot provided [RCV002118113]benign174364348443643484Humanname
405000143CV3120148single nucleotide variantNM_004527.4(MEOX1):c.470-4C>Tnot provided [RCV003827938]likely benign174364366443643664Humanname
597921707CV3861060single nucleotide variantNM_004527.4(MEOX1):c.642+8C>Tnot provided [RCV005196408]likely benign174364348043643480Humanname
152032663CV1546376single nucleotide variantNM_004527.4(MEOX1):c.470-16G>Anot provided [RCV002124791]benign174364367643643676Humanname
156146012CV1954286single nucleotide variantNM_004527.4(MEOX1):c.642+11G>Anot provided [RCV002572743]likely benign|uncertain significance174364347743643477Humanname
155901893CV2151593single nucleotide variantNM_004527.4(MEOX1):c.642+17C>Anot provided [RCV003011682]likely benign174364347143643471Humanname
402505448CV3038985single nucleotide variantNM_004527.4(MEOX1):c.643-11T>Cnot provided [RCV003715151]likely benign174364204343642043Humanname
150512042CV1212901single nucleotide variantNM_004527.4(MEOX1):c.469+218A>Gnot provided [RCV001598133]benign174366084843660848Humanname
150516250CV1228285single nucleotide variantNM_004527.4(MEOX1):c.643-220C>Tnot provided [RCV001639091]benign174364225243642252Humanname
150506396CV1257329single nucleotide variantNM_004527.4(MEOX1):c.470-174A>Gnot provided [RCV001678168]benign174364383443643834Humanname
8585363CV119949single nucleotide variantNM_001040002.1(MEOX1):c.124+7623C>TLung cancer [RCV000100469]uncertain significance174365344343653443Humanname
15124170CV740798single nucleotide variantNM_004527.4(MEOX1):c.12G>A (p.Ala4=)MEOX1-related disorder [RCV004757307]|not provided [RCV000896540]likely benign174366152343661523Human1name , trait , alternate_id
151855977CV1401812single nucleotide variantNM_004527.4(MEOX1):c.81G>A (p.Ser27=)not provided [RCV002017182]likely benign|uncertain significance174366145443661454Humanname
15189343CV771559single nucleotide variantNM_004527.4(MEOX1):c.90T>C (p.Asn30=)not provided [RCV000932212]likely benign174366144543661445Humanname
152162958CV1593403single nucleotide variantNM_004527.4(MEOX1):c.174G>A (p.Ala58=)not provided [RCV002104146]likely benign174366136143661361Humanname
11550145CV256177single nucleotide variantNM_004527.4(MEOX1):c.11C>T (p.Ala4Val)not provided [RCV000887239]|not specified [RCV000251353]benign174366152443661524Humanname
405268597CV3201028single nucleotide variantNM_004527.4(MEOX1):c.165G>A (p.Ala55=)MEOX1-related disorder [RCV003899139]likely benign174366137043661370Humanname , trait , alternate_id
597837998CV3758130single nucleotide variantNM_004527.4(MEOX1):c.120C>T (p.Pro40=)not provided [RCV005085964]likely benign174366141543661415Humanname
597884342CV3819422single nucleotide variantNM_004527.4(MEOX1):c.138C>T (p.His46=)not provided [RCV005159232]likely benign174366139743661397Humanname
8570474CV48106deletionNM_004527.4(MEOX1):c.94del (p.Ala32fs)Klippel-Feil syndrome 2, autosomal recessive [RCV000032703]pathogenic|likely pathogenic174366144143661441Human1name
13522845CV489981single nucleotide variantNM_004527.4(MEOX1):c.126G>A (p.Pro42=)MEOX1-related disorder [RCV004757255]|not provided [RCV000592257]likely benign|conflicting interpretations of pathogenicity|uncertain significance174366140943661409Human1name , trait , alternate_id
15172045CV740796single nucleotide variantNM_004527.4(MEOX1):c.258C>T (p.Pro86=)not provided [RCV000905591]likely benign174366127743661277Humanname
15138857CV740797single nucleotide variantNM_004527.4(MEOX1):c.189A>G (p.Ser63=)not provided [RCV000899053]likely benign174366134643661346Humanname
126725201CV1018296deletionNM_004527.4(MEOX1):c.125del (p.Pro42fs)Klippel-Feil syndrome 2, autosomal recessive [RCV001331257]pathogenic174366141043661410Humanname
151782950CV1350117single nucleotide variantNM_004527.4(MEOX1):c.68G>A (p.Arg23Gln)not provided [RCV001989302]uncertain significance174366146743661467Humanname
151712584CV1370912single nucleotide variantNM_004527.4(MEOX1):c.40C>A (p.Pro14Thr)Inborn genetic diseases [RCV004039069]|not provided [RCV001908308]uncertain significance174366149543661495Human1name
152131923CV1521824single nucleotide variantNM_004527.4(MEOX1):c.726T>G (p.Pro242=)not provided [RCV002199439]likely benign174364194943641949Humanname
152129610CV1549324single nucleotide variantNM_004527.4(MEOX1):c.556C>T (p.Leu186=)not provided [RCV002099304]likely benign174364357443643574Humanname
152062061CV1594438single nucleotide variantNM_004527.4(MEOX1):c.606T>C (p.Tyr202=)not provided [RCV002110230]likely benign174364352443643524Humanname
152136437CV1595142single nucleotide variantNM_004527.4(MEOX1):c.681G>A (p.Lys227=)not provided [RCV002200005]likely benign174364199443641994Humanname
152073702CV1660409single nucleotide variantNM_004527.4(MEOX1):c.378C>T (p.Thr126=)not provided [RCV002169623]likely benign174366115743661157Humanname
156007905CV1870566single nucleotide variantNM_004527.4(MEOX1):c.393C>T (p.Gly131=)not provided [RCV003076921]benign174366114243661142Humanname
156053886CV1974482single nucleotide variantNM_004527.4(MEOX1):c.621C>T (p.Asn207=)not provided [RCV002590748]uncertain significance174364350943643509Humanname
156124812CV2012316single nucleotide variantNM_004527.4(MEOX1):c.65T>C (p.Leu22Pro)not provided [RCV002696178]uncertain significance174366147043661470Humanname
155989230CV2066720single nucleotide variantNM_004527.4(MEOX1):c.636G>A (p.Glu212=)not provided [RCV002842888]likely benign174364349443643494Humanname
155961161CV2089032single nucleotide variantNM_004527.4(MEOX1):c.588G>A (p.Leu196=)not provided [RCV002881023]likely benign174364354243643542Humanname
155921422CV2102424single nucleotide variantNM_004527.4(MEOX1):c.597C>T (p.Leu199=)not provided [RCV002903373]likely benign174364353343643533Humanname
156040928CV2121573single nucleotide variantNM_004527.4(MEOX1):c.537C>T (p.Thr179=)not provided [RCV002923914]likely benign174364359343643593Humanname
156103494CV2149253single nucleotide variantNM_004527.4(MEOX1):c.489G>A (p.Gly163=)not provided [RCV003021133]likely benign174364364143643641Humanname
11545179CV256176single nucleotide variantNM_004527.4(MEOX1):c.80C>T (p.Ser27Leu)not provided [RCV001610648]|not specified [RCV000244787]benign174366145543661455Humanname
405176582CV2951975single nucleotide variantNM_004527.4(MEOX1):c.663C>T (p.Asn221=)not provided [RCV003675883]likely benign174364201243642012Humanname
405140176CV2961923single nucleotide variantNM_004527.4(MEOX1):c.451C>A (p.Arg151=)not provided [RCV003673156]likely benign174366108443661084Humanname
405232612CV2985379single nucleotide variantNM_004527.4(MEOX1):c.708C>T (p.Ser236=)not provided [RCV003711769]likely benign174364196743641967Humanname
405047533CV3137833single nucleotide variantNM_004527.4(MEOX1):c.402C>T (p.Tyr134=)not provided [RCV003831871]likely benign174366113343661133Humanname
405158057CV3159781single nucleotide variantNM_004527.4(MEOX1):c.519G>A (p.Lys173=)not provided [RCV003856852]likely benign174364361143643611Humanname
597917959CV3844117single nucleotide variantNM_004527.4(MEOX1):c.741C>T (p.Ser247=)not provided [RCV005192964]likely benign174364193443641934Humanname
15159327CV715477single nucleotide variantNM_004527.4(MEOX1):c.444A>G (p.Ser148=)not provided [RCV000969688]benign174366109143661091Humanname
15149353CV727197single nucleotide variantNM_004527.4(MEOX1):c.327G>C (p.Pro109=)not provided [RCV000879147]benign174366120843661208Humanname
15150737CV727198single nucleotide variantNM_004527.4(MEOX1):c.327G>A (p.Pro109=)not provided [RCV000879446]benign174366120843661208Humanname
15139696CV740793single nucleotide variantNM_004527.4(MEOX1):c.729G>A (p.Glu243=)not provided [RCV000899190]likely benign174364194643641946Humanname
15190256CV740794single nucleotide variantNM_004527.4(MEOX1):c.690G>A (p.Lys230=)Inborn genetic diseases [RCV004950041]|not provided [RCV000909895]likely benign174364198543641985Human1name
151821576CV1354968single nucleotide variantNM_004527.4(MEOX1):c.254A>C (p.His85Pro)Inborn genetic diseases [RCV002562143]|not provided [RCV001934196]uncertain significance174366128143661281Human1name
151804842CV1371885single nucleotide variantNM_004527.4(MEOX1):c.269A>G (p.Gln90Arg)not provided [RCV001953262]uncertain significance174366126643661266Humanname
151809647CV1483709single nucleotide variantNM_004527.4(MEOX1):c.259G>A (p.Ala87Thr)Inborn genetic diseases [RCV004042746]|not provided [RCV001918477]uncertain significance174366127643661276Human1name
151711464CV1497382single nucleotide variantNM_004527.4(MEOX1):c.190G>A (p.Ala64Thr)not provided [RCV002002058]uncertain significance174366134543661345Humanname
9687378CV171847single nucleotide variantNM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)Klippel-Feil syndrome 2, autosomal recessive [RCV000149546]pathogenic174366128543661285Human1name
156315735CV1901206single nucleotide variantNM_004527.4(MEOX1):c.116C>T (p.Pro39Leu)not provided [RCV002578940]uncertain significance174366141943661419Humanname
156223140CV2009279single nucleotide variantNM_004527.4(MEOX1):c.279C>A (p.Asn93Lys)Inborn genetic diseases [RCV005370278]|not provided [RCV002701082]uncertain significance174366125643661256Human1name
156204440CV2063063deletionNM_004527.4(MEOX1):c.736del (p.Asp246fs)not provided [RCV002829060]uncertain significance174364193943641939Humanname
156192096CV2206233single nucleotide variantNM_004527.4(MEOX1):c.253C>T (p.His85Tyr)Inborn genetic diseases [RCV002665947]uncertain significance174366128243661282Human1name
401741710CV2676508single nucleotide variantNM_004527.4(MEOX1):c.191C>G (p.Ala64Gly)Inborn genetic diseases [RCV003251517]uncertain significance174366134443661344Human1name
401759099CV2712410single nucleotide variantNM_004527.4(MEOX1):c.163G>A (p.Ala55Thr)Inborn genetic diseases [RCV003299088]uncertain significance174366137243661372Human1name
405693663CV3281992single nucleotide variantNM_004527.4(MEOX1):c.184T>C (p.Phe62Leu)Inborn genetic diseases [RCV004424144]uncertain significance174366135143661351Human1name
597681944CV3556670single nucleotide variantNM_004527.4(MEOX1):c.278A>G (p.Asn93Ser)Inborn genetic diseases [RCV004952049]uncertain significance174366125743661257Human1name
597926484CV3857176single nucleotide variantNM_004527.4(MEOX1):c.282G>A (p.Trp94Ter)Klippel-Feil syndrome 2, autosomal recessive [RCV005230869]|not provided [RCV005201040]pathogenic|likely pathogenic174366125343661253Human1name
598226555CV3895818single nucleotide variantNM_004527.4(MEOX1):c.268C>T (p.Gln90Ter)Klippel-Feil syndrome 2, autosomal recessive [RCV005362110]likely pathogenic174366126743661267Human1name
151816640CV1342297single nucleotide variantNM_004527.4(MEOX1):c.308G>A (p.Arg103His)Inborn genetic diseases [RCV004946945]|not provided [RCV001975322]conflicting interpretations of pathogenicity|uncertain significance174366122743661227Human1name
151722274CV1346365single nucleotide variantNM_004527.4(MEOX1):c.505A>G (p.Ser169Gly)not provided [RCV001966150]uncertain significance174364362543643625Humanname
151873349CV1359571single nucleotide variantNM_004527.4(MEOX1):c.551G>A (p.Arg184Gln)not provided [RCV002019227]uncertain significance174364357943643579Humanname
151804864CV1371887single nucleotide variantNM_004527.4(MEOX1):c.502A>G (p.Ser168Gly)not provided [RCV001953264]uncertain significance174364362843643628Humanname
151811401CV1376697single nucleotide variantNM_004527.4(MEOX1):c.665G>A (p.Arg222Gln)not provided [RCV001899988]uncertain significance174364201043642010Humanname
151811636CV1376725single nucleotide variantNM_004527.4(MEOX1):c.317A>C (p.Asn106Thr)not provided [RCV001900010]uncertain significance174366121843661218Humanname
151845076CV1381580single nucleotide variantNM_004527.4(MEOX1):c.682C>T (p.Arg228Cys)Inborn genetic diseases [RCV003365504]|not provided [RCV001881836]uncertain significance174364199343641993Human1name
151767370CV1387741single nucleotide variantNM_004527.4(MEOX1):c.503G>A (p.Ser168Asn)Inborn genetic diseases [RCV004946961]|not provided [RCV001970841]uncertain significance174364362743643627Human1name
151790483CV1399850single nucleotide variantNM_004527.4(MEOX1):c.304C>T (p.Arg102Trp)Inborn genetic diseases [RCV004955854]|not provided [RCV001916769]uncertain significance174366123143661231Human1name
151772615CV1414213single nucleotide variantNM_004527.4(MEOX1):c.305G>A (p.Arg102Gln)not provided [RCV001874600]uncertain significance174366123043661230Humanname
151865081CV1443105single nucleotide variantNM_004527.4(MEOX1):c.529G>T (p.Ala177Ser)not provided [RCV002034955]uncertain significance174364360143643601Humanname
151804983CV1444276single nucleotide variantNM_004527.4(MEOX1):c.494C>T (p.Pro165Leu)not provided [RCV001918063]uncertain significance174364363643643636Humanname
151726774CV1445745single nucleotide variantNM_004527.4(MEOX1):c.740C>T (p.Ser247Phe)not provided [RCV002040781]uncertain significance174364193543641935Humanname
151741549CV1466823single nucleotide variantNM_004527.4(MEOX1):c.356G>A (p.Ser119Asn)not provided [RCV001911973]uncertain significance174366117943661179Humanname
151793203CV1467623single nucleotide variantNM_004527.4(MEOX1):c.527C>T (p.Thr176Met)Inborn genetic diseases [RCV004946903]|not provided [RCV001931617]uncertain significance174364360343643603Human1name
151713554CV1476580single nucleotide variantNM_004527.4(MEOX1):c.755G>A (p.Ser252Asn)not provided [RCV001908499]uncertain significance174364192043641920Humanname
151791164CV1486194single nucleotide variantNM_004527.4(MEOX1):c.301G>A (p.Ala101Thr)Inborn genetic diseases [RCV004038909]|not provided [RCV002047125]uncertain significance174366123443661234Human1name
151876757CV1490263single nucleotide variantNM_004527.4(MEOX1):c.302C>A (p.Ala101Asp)not provided [RCV001940488]uncertain significance174366123343661233Humanname
156295176CV1892358single nucleotide variantNM_004527.4(MEOX1):c.614C>T (p.Ala205Val)not provided [RCV003061628]uncertain significance174364351643643516Humanname
156410271CV1962177single nucleotide variantNM_004527.4(MEOX1):c.391G>A (p.Gly131Ser)Inborn genetic diseases [RCV002589115]|not provided [RCV002587096]uncertain significance174366114443661144Human1name
156337733CV1976977single nucleotide variantNM_004527.4(MEOX1):c.388C>T (p.Pro130Ser)not provided [RCV002601120]uncertain significance174366114743661147Humanname
156415223CV1990879single nucleotide variantNM_004527.4(MEOX1):c.365G>T (p.Gly122Val)not provided [RCV002609568]uncertain significance174366117043661170Humanname
156392258CV2005834single nucleotide variantNM_004527.4(MEOX1):c.311G>A (p.Arg104Lys)not provided [RCV002680882]uncertain significance174366122443661224Humanname
155904804CV2048018single nucleotide variantNM_004527.4(MEOX1):c.518A>G (p.Lys173Arg)not provided [RCV002771200]uncertain significance174364361243643612Humanname
156292376CV2111470single nucleotide variantNM_004527.4(MEOX1):c.452G>A (p.Arg151Gln)not provided [RCV002922207]uncertain significance174366108343661083Humanname
155908249CV2387262single nucleotide variantNM_004527.4(MEOX1):c.484A>G (p.Arg162Gly)Inborn genetic diseases [RCV002749801]uncertain significance174364364643643646Human1name
329398225CV2464878single nucleotide variantNM_004527.4(MEOX1):c.480G>C (p.Glu160Asp)Inborn genetic diseases [RCV003220374]uncertain significance174364365043643650Human1name
401719096CV2704953single nucleotide variantNM_004527.4(MEOX1):c.593G>A (p.Arg198Gln)Inborn genetic diseases [RCV003266770]uncertain significance174364353743643537Human1name
405125955CV2939453microsatelliteNM_004527.4(MEOX1):c.44_50dup (p.Val18fs)not provided [RCV003671955]pathogenic174366148443661485Humanname
405179827CV3027730single nucleotide variantNM_004527.4(MEOX1):c.535A>G (p.Thr179Ala)not provided [RCV003705421]uncertain significance174364359543643595Humanname
405693671CV3281993single nucleotide variantNM_004527.4(MEOX1):c.331G>A (p.Gly111Arg)Inborn genetic diseases [RCV004424145]uncertain significance174366120443661204Human1name
405693676CV3281994single nucleotide variantNM_004527.4(MEOX1):c.349G>C (p.Gly117Arg)Inborn genetic diseases [RCV004424146]uncertain significance174366118643661186Human1name
405693692CV3281996single nucleotide variantNM_004527.4(MEOX1):c.643G>A (p.Val215Ile)Inborn genetic diseases [RCV004424148]uncertain significance174364203243642032Human1name
405693696CV3281997single nucleotide variantNM_004527.4(MEOX1):c.727G>A (p.Glu243Lys)Inborn genetic diseases [RCV004424149]uncertain significance174364194843641948Human1name
407518115CV3449887single nucleotide variantNM_004527.4(MEOX1):c.683G>A (p.Arg228His)Inborn genetic diseases [RCV004628758]uncertain significance174364199243641992Human1name
408393921CV3521630single nucleotide variantNM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)Klippel-Feil syndrome 2, autosomal recessive [RCV004764428]likely pathogenic174364361643643616Human1name
597699688CV3556668single nucleotide variantNM_004527.4(MEOX1):c.451C>T (p.Arg151Trp)Inborn genetic diseases [RCV004956423]uncertain significance174366108443661084Human1name
597681937CV3556669single nucleotide variantNM_004527.4(MEOX1):c.710C>T (p.Pro237Leu)Inborn genetic diseases [RCV004952048]uncertain significance174364196543641965Human1name
598241624CV3985839single nucleotide variantNM_004527.4(MEOX1):c.583T>C (p.Tyr195His)Inborn genetic diseases [RCV005364847]uncertain significance174364354743643547Human1name
598225765CV3985840single nucleotide variantNM_004527.4(MEOX1):c.308G>T (p.Arg103Leu)Inborn genetic diseases [RCV005380461]uncertain significance174366122743661227Human1name
8570475CV48107single nucleotide variantNM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)Klippel-Feil syndrome 2, autosomal recessive [RCV000032704]pathogenic174364201143642011Human1name
13515833CV489979single nucleotide variantNM_004527.4(MEOX1):c.721G>C (p.Asp241His)Inborn genetic diseases [RCV004024741]|not provided [RCV000594781]uncertain significance174364195443641954Human1name
15186854CV727196single nucleotide variantNM_004527.4(MEOX1):c.713A>G (p.Asn238Ser)MEOX1-related disorder [RCV003910496]|not provided [RCV000887090]likely benign174364196243641962Human1name , trait , alternate_id
15188521CV740795single nucleotide variantNM_004527.4(MEOX1):c.578A>G (p.His193Arg)not provided [RCV000909391]likely benign174364355243643552Humanname
15196426CV755881single nucleotide variantNM_004527.4(MEOX1):c.700C>A (p.Pro234Thr)MEOX1-related disorder [RCV003923166]|not provided [RCV000911693]likely benign174364197543641975Human1name , trait , alternate_id