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162 records found for search term Dact1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156092006CV2384845single nucleotide variantNM_001079520.2(DACT1):c.635-6T>Cnot specified [RCV004225727]uncertain significance145864536358645363Humanname
15168791CV730944single nucleotide variantNM_001079520.2(DACT1):c.478+9T>GDACT1-related disorder [RCV003930588]|not provided [RCV000883139]benign|likely benign145864087758640877Human1name , trait , alternate_id
156160284CV2262655single nucleotide variantNM_001079520.2(DACT1):c.635-54C>Anot specified [RCV004130851]uncertain significance145864531558645315Humanname
156194174CV2351937single nucleotide variantNM_001079520.2(DACT1):c.635-45G>Anot specified [RCV004198073]uncertain significance145864532458645324Humanname
401769413CV2735014single nucleotide variantNM_001079520.2(DACT1):c.635-27A>Gnot specified [RCV004333714]uncertain significance145864534258645342Humanname
598251064CV3952768single nucleotide variantNM_001079520.2(DACT1):c.635-58G>Anot specified [RCV005322986]uncertain significance145864531158645311Humanname
598251102CV3952775single nucleotide variantNM_001079520.2(DACT1):c.635-26A>Tnot specified [RCV005322993]uncertain significance145864534358645343Humanname
597674112CV3655123single nucleotide variantNM_001079520.2(DACT1):c.635-106A>Gnot specified [RCV004913582]uncertain significance145864526358645263Humanname
15115323CV787887single nucleotide variantNM_001079520.2(DACT1):c.635-121T>Cnot provided [RCV000978380]likely benign145864524858645248Humanname
150512326CV1245379single nucleotide variantNM_001079520.2(DACT1):c.268C>T (p.Leu90=)Townes-Brocks syndrome 2 [RCV001661352]|not provided [RCV004715533]benign145863847058638470Human1name
401923442CV2803287single nucleotide variantNM_001079520.2(DACT1):c.25G>C (p.Ala9Pro)DACT1-related disorder [RCV003404433]uncertain significance145863822758638227Humanname , trait , alternate_id
405679183CV3236639single nucleotide variantNM_001079520.2(DACT1):c.19G>C (p.Gly7Arg)not specified [RCV004370790]uncertain significance145863822158638221Humanname
407456336CV3415863single nucleotide variantNM_001079520.2(DACT1):c.288C>T (p.Arg96=)not provided [RCV004598740]likely benign145863849058638490Humanname
15176418CV725712single nucleotide variantNM_001079520.2(DACT1):c.156G>A (p.Leu52=)not provided [RCV000884578]likely benign145863835858638358Humanname
15109157CV725713single nucleotide variantNM_001079520.2(DACT1):c.237G>C (p.Ala79=)not provided [RCV000893812]benign145863843958638439Humanname
15196602CV754088single nucleotide variantNM_001079520.2(DACT1):c.147G>A (p.Glu49=)not provided [RCV000911742]likely benign145863834958638349Humanname
405267351CV3205603single nucleotide variantNM_001079520.2(DACT1):c.621C>T (p.Cys207=)DACT1-related disorder [RCV003947389]likely benign145864173458641734Humanname , trait , alternate_id
407452873CV3420367single nucleotide variantNM_001079520.2(DACT1):c.79C>T (p.Pro27Ser)not specified [RCV004608716]uncertain significance145863828158638281Humanname
596946052CV3548191single nucleotide variantNM_001079520.2(DACT1):c.477A>C (p.Ser159=)not provided [RCV004809522]likely benign145864086758640867Humanname
616938778CV4015833single nucleotide variantNM_001079520.2(DACT1):c.763C>T (p.Leu255=)Townes-Brocks syndrome 2 [RCV005414385]likely pathogenic145864549758645497Human1name
15159793CV725716single nucleotide variantNM_001079520.2(DACT1):c.582C>T (p.Cys194=)not provided [RCV000881260]likely benign145864169558641695Humanname
15139752CV739252single nucleotide variantNM_001079520.2(DACT1):c.306G>A (p.Lys102=)not provided [RCV000899200]likely benign145863850858638508Humanname
15165323CV739254single nucleotide variantNM_001079520.2(DACT1):c.846C>A (p.Ser282=)not provided [RCV000904195]benign145864558058645580Humanname
15138304CV754089single nucleotide variantNM_001079520.2(DACT1):c.624C>G (p.Pro208=)not provided [RCV000921309]likely benign145864173758641737Humanname
156059196CV2396555single nucleotide variantNM_001079520.2(DACT1):c.124C>A (p.Gln42Lys)not specified [RCV004242258]uncertain significance145863832658638326Humanname
329361304CV2436873single nucleotide variantNM_001079520.2(DACT1):c.253C>G (p.Arg85Gly)not specified [RCV004260261]uncertain significance145863845558638455Humanname
401902036CV2810446single nucleotide variantNM_001079520.2(DACT1):c.1194G>T (p.Leu398=)not provided [RCV003393449]likely benign145864592858645928Humanname
405258198CV3208250single nucleotide variantNM_001079520.2(DACT1):c.1008C>T (p.Asn336=)DACT1-related disorder [RCV003941684]likely benign145864574258645742Humanname , trait , alternate_id
405261423CV3210013single nucleotide variantNM_001079520.2(DACT1):c.1017T>C (p.Val339=)DACT1-related disorder [RCV003944530]likely benign145864575158645751Humanname , trait , alternate_id
405279160CV3217393single nucleotide variantNM_001079520.2(DACT1):c.1977C>T (p.Arg659=)DACT1-related disorder [RCV003976818]likely benign145864671158646711Humanname , trait , alternate_id
405287288CV3217730single nucleotide variantNM_001079520.2(DACT1):c.1023C>T (p.Val341=)DACT1-related disorder [RCV003981853]benign145864575758645757Humanname , trait , alternate_id
405679172CV3236637single nucleotide variantNM_001079520.2(DACT1):c.184C>T (p.Arg62Cys)not specified [RCV004370788]uncertain significance145863838658638386Humanname
408384724CV3504347single nucleotide variantNM_001079520.2(DACT1):c.253C>A (p.Arg85Ser)DACT1-related disorder [RCV004731930]uncertain significance145863845558638455Humanname , trait , alternate_id
596946647CV3548475single nucleotide variantNM_001079520.2(DACT1):c.1848G>A (p.Ala616=)not provided [RCV004810302]likely benign145864658258646582Humanname
597674073CV3655118single nucleotide variantNM_001079520.2(DACT1):c.293G>T (p.Arg98Leu)not specified [RCV004913578]uncertain significance145863849558638495Humanname
598251081CV3952771single nucleotide variantNM_001079520.2(DACT1):c.190C>T (p.Arg64Cys)not specified [RCV005322989]uncertain significance145863839258638392Humanname
15108972CV714174single nucleotide variantNM_001079520.2(DACT1):c.1500C>G (p.Ala500=)not provided [RCV000960596]benign145864623458646234Humanname
15108978CV714175single nucleotide variantNM_001079520.2(DACT1):c.1896T>G (p.Pro632=)not provided [RCV000960597]benign145864663058646630Humanname
15198101CV725714single nucleotide variantNM_001079520.2(DACT1):c.251C>T (p.Pro84Leu)not provided [RCV000890256]|not specified [RCV005318551]likely benign|uncertain significance145863845358638453Humanname
15196250CV725715single nucleotide variantNM_001079520.2(DACT1):c.260G>T (p.Gly87Val)DACT1-related disorder [RCV003910553]|not provided [RCV000889726]benign|likely benign145863846258638462Human1name , trait , alternate_id
15160491CV725717single nucleotide variantNM_001079520.2(DACT1):c.2121C>T (p.Asp707=)DACT1-related disorder [RCV003955832]|not provided [RCV000881393]benign|likely benign145864685558646855Human1name , trait , alternate_id
15124983CV739259single nucleotide variantNM_001079520.2(DACT1):c.2148C>T (p.Cys716=)not provided [RCV000896682]benign145864688258646882Humanname
15119255CV739260single nucleotide variantNM_001079520.2(DACT1):c.2244C>T (p.Ser748=)DACT1-related disorder [RCV003950456]|not provided [RCV000895691]likely benign145864697858646978Human1name , trait , alternate_id
15146979CV754091single nucleotide variantNM_001079520.2(DACT1):c.1224C>T (p.Ser408=)DACT1-related disorder [RCV003903016]|not provided [RCV000922813]benign|likely benign145864595858645958Human1name , trait , alternate_id
15198387CV754092single nucleotide variantNM_001079520.2(DACT1):c.1404C>G (p.Pro468=)DACT1-related disorder [RCV003950760]|not provided [RCV000912244]benign|likely benign145864613858646138Human1name , trait , alternate_id
15196824CV754093single nucleotide variantNM_001079520.2(DACT1):c.1497T>C (p.Pro499=)not provided [RCV000911805]likely benign145864623158646231Humanname
15203190CV754094single nucleotide variantNM_001079520.2(DACT1):c.1554C>T (p.Val518=)not provided [RCV000913773]likely benign145864628858646288Humanname
15168111CV754095single nucleotide variantNM_001079520.2(DACT1):c.1662C>G (p.Leu554=)not provided [RCV000927225]likely benign145864639658646396Humanname
15100702CV754096single nucleotide variantNM_001079520.2(DACT1):c.1770C>A (p.Ala590=)not provided [RCV000914652]likely benign145864650458646504Humanname
15131305CV784737single nucleotide variantNM_001079520.2(DACT1):c.1224C>G (p.Ser408=)not provided [RCV000981190]likely benign145864595858645958Humanname
155987763CV2251153single nucleotide variantNM_001079520.2(DACT1):c.631G>T (p.Ala211Ser)not specified [RCV004115387]uncertain significance145864174458641744Humanname
156068098CV2289461single nucleotide variantNM_001079520.2(DACT1):c.703C>T (p.Pro235Ser)not specified [RCV004152405]uncertain significance145864543758645437Humanname
156048084CV2336417single nucleotide variantNM_001079520.2(DACT1):c.829G>T (p.Val277Phe)not specified [RCV004194633]uncertain significance145864556358645563Humanname
156248630CV2357155single nucleotide variantNM_001079520.2(DACT1):c.817G>A (p.Glu273Lys)DACT1-related disorder [RCV003928925]|Townes syndrome [RCV005356333]|not provided [RCV004598253]|not specified [RCV004206945]benign|likely benign|uncertain significance145864555158645551Human2name , trait , alternate_id
329356311CV2430685single nucleotide variantNM_001079520.2(DACT1):c.809G>A (p.Gly270Asp)not specified [RCV004253874]uncertain significance145864554358645543Humanname
401757297CV2675217single nucleotide variantNM_001079520.2(DACT1):c.851C>T (p.Pro284Leu)not specified [RCV004289988]uncertain significance145864558558645585Humanname
401740420CV2679634single nucleotide variantNM_001079520.2(DACT1):c.760C>G (p.Pro254Ala)not specified [RCV004282109]uncertain significance145864549458645494Humanname
401872059CV2754253single nucleotide variantNM_001079520.2(DACT1):c.752C>T (p.Thr251Met)not specified [RCV004334439]uncertain significance145864548658645486Humanname
401936416CV2803468single nucleotide variantNM_001079520.2(DACT1):c.883C>G (p.Pro295Ala)DACT1-related disorder [RCV003414424]uncertain significance145864561758645617Humanname , trait , alternate_id
405679142CV3236631single nucleotide variantNM_001079520.2(DACT1):c.936A>C (p.Lys312Asn)Townes syndrome [RCV005363322]|not specified [RCV004370782]likely benign|uncertain significance145864567058645670Human1name
405679214CV3236645single nucleotide variantNM_001079520.2(DACT1):c.758A>G (p.Asn253Ser)not specified [RCV004370796]uncertain significance145864549258645492Humanname
407452867CV3420364single nucleotide variantNM_001079520.2(DACT1):c.925G>A (p.Val309Ile)not specified [RCV004608713]uncertain significance145864565958645659Humanname
407452871CV3420366single nucleotide variantNM_001079520.2(DACT1):c.572C>T (p.Thr191Ile)not specified [RCV004608715]uncertain significance145864168558641685Humanname
597674038CV3655114single nucleotide variantNM_001079520.2(DACT1):c.760C>T (p.Pro254Ser)not specified [RCV004913574]uncertain significance145864549458645494Humanname
597674084CV3655119single nucleotide variantNM_001079520.2(DACT1):c.350G>C (p.Cys117Ser)not specified [RCV004913579]uncertain significance145864074058640740Humanname
598251043CV3952765single nucleotide variantNM_001079520.2(DACT1):c.985C>T (p.Pro329Ser)not specified [RCV005322983]uncertain significance145864571958645719Humanname
598251077CV3952770single nucleotide variantNM_001079520.2(DACT1):c.779G>A (p.Arg260Lys)not specified [RCV005322988]uncertain significance145864551358645513Humanname
598251087CV3952772single nucleotide variantNM_001079520.2(DACT1):c.799G>A (p.Asp267Asn)not specified [RCV005322990]uncertain significance145864553358645533Humanname
15126039CV714172single nucleotide variantNM_001079520.2(DACT1):c.930G>C (p.Gln310His)Townes-Brocks syndrome 2 [RCV002503014]|not provided [RCV000963679]likely benign145864566458645664Human1name
15135940CV739253single nucleotide variantNM_001079520.2(DACT1):c.769G>A (p.Glu257Lys)Townes-Brocks syndrome 2 [RCV002495438]|not provided [RCV000898548]benign|likely benign145864550358645503Human1name
15102546CV754090single nucleotide variantNM_001079520.2(DACT1):c.989C>A (p.Thr330Lys)Townes-Brocks syndrome 2 [RCV003152612]|not provided [RCV000914985]|not specified [RCV004029380]pathogenic|likely benign|uncertain significance145864572358645723Human1name
150512328CV1245380single nucleotide variantNM_001079520.2(DACT1):c.1280C>T (p.Ala427Val)Townes-Brocks syndrome 2 [RCV001661353]|not provided [RCV004716786]benign145864601458646014Human1name
150437816CV1249934single nucleotide variantNM_001079520.2(DACT1):c.1978G>A (p.Gly660Ser)DACT1-related disorder [RCV003975855]|not provided [RCV001665848]benign145864671258646712Human1name , trait , alternate_id
150508607CV1284324single nucleotide variantNM_001079520.2(DACT1):c.1225G>A (p.Asp409Asn)not provided [RCV001720432]benign145864595958645959Humanname
155643096CV1707683single nucleotide variantNM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys)Townes-Brocks syndrome 2 [RCV002289144]uncertain significance145864685658646856Human1name
156172456CV2194250single nucleotide variantNM_001079520.2(DACT1):c.1616T>G (p.Met539Arg)not specified [RCV004079371]uncertain significance145864635058646350Humanname
156382920CV2223696single nucleotide variantNM_001079520.2(DACT1):c.1091C>T (p.Pro364Leu)not specified [RCV004093800]uncertain significance145864582558645825Humanname
156066457CV2225543single nucleotide variantNM_001079520.2(DACT1):c.1862A>G (p.His621Arg)not specified [RCV004100925]uncertain significance145864659658646596Humanname
11040244CV223643single nucleotide variantNM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn)Rieger anomaly [RCV000207386]likely benign145864663358646633Human2name
155945212CV2237953single nucleotide variantNM_001079520.2(DACT1):c.2140A>G (p.Thr714Ala)not specified [RCV004110994]uncertain significance145864687458646874Humanname
156047020CV2244767single nucleotide variantNM_001079520.2(DACT1):c.2143A>G (p.Asn715Asp)not specified [RCV004102753]uncertain significance145864687758646877Humanname
155968077CV2261953single nucleotide variantNM_001079520.2(DACT1):c.1952A>G (p.Glu651Gly)not specified [RCV004126449]uncertain significance145864668658646686Humanname
156114656CV2268628single nucleotide variantNM_001079520.2(DACT1):c.1282C>T (p.Arg428Trp)not specified [RCV004124036]uncertain significance145864601658646016Humanname
155962869CV2285703single nucleotide variantNM_001079520.2(DACT1):c.1610G>C (p.Arg537Thr)not specified [RCV004141551]uncertain significance145864634458646344Humanname
156002437CV2288033single nucleotide variantNM_001079520.2(DACT1):c.1012A>G (p.Ser338Gly)not specified [RCV004147792]uncertain significance145864574658645746Humanname
156351140CV2316351single nucleotide variantNM_001079520.2(DACT1):c.1683G>T (p.Leu561Phe)not specified [RCV004174360]uncertain significance145864641758646417Humanname
156201221CV2338382single nucleotide variantNM_001079520.2(DACT1):c.1735G>C (p.Asp579His)not specified [RCV004186431]uncertain significance145864646958646469Humanname
155927809CV2349796single nucleotide variantNM_001079520.2(DACT1):c.1015G>C (p.Val339Leu)not specified [RCV004204207]uncertain significance145864574958645749Humanname
155954272CV2379179single nucleotide variantNM_001079520.2(DACT1):c.2041G>A (p.Ala681Thr)not specified [RCV004235968]uncertain significance145864677558646775Humanname
243050894CV2417701single nucleotide variantNM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys)Townes-Brocks syndrome 2 [RCV003152572]pathogenic145864632658646326Human1name
243050897CV2417702single nucleotide variantNM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe)Townes-Brocks syndrome 2 [RCV003152573]pathogenic145864639458646394Human1name
243050898CV2417703single nucleotide variantNM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg)Townes-Brocks syndrome 2 [RCV003152574]pathogenic145864709158647091Human1name
243057413CV2417704single nucleotide variantNM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn)Townes-Brocks syndrome 2 [RCV003152575]pathogenic145864651358646513Human1name
329372230CV2443067single nucleotide variantNM_001079520.2(DACT1):c.1513A>T (p.Ser505Cys)not specified [RCV004253654]uncertain significance145864624758646247Humanname
329380041CV2444161single nucleotide variantNM_001079520.2(DACT1):c.2366G>A (p.Arg789Gln)not specified [RCV004260896]uncertain significance145864710058647100Humanname
329391892CV2445113single nucleotide variantNM_001079520.2(DACT1):c.1819G>T (p.Gly607Cys)not specified [RCV004263761]uncertain significance145864655358646553Humanname
329359550CV2446319single nucleotide variantNM_001079520.2(DACT1):c.2294A>C (p.His765Pro)not specified [RCV004249451]uncertain significance145864702858647028Humanname
329386774CV2452509single nucleotide variantNM_001079520.2(DACT1):c.2017C>T (p.Pro673Ser)not specified [RCV004273107]uncertain significance145864675158646751Humanname
329379247CV2456170single nucleotide variantNM_001079520.2(DACT1):c.2024C>T (p.Pro675Leu)not specified [RCV004273362]uncertain significance145864675858646758Humanname
329377903CV2460817single nucleotide variantNM_001079520.2(DACT1):c.1160A>C (p.Lys387Thr)not specified [RCV004271135]uncertain significance145864589458645894Humanname
329380558CV2466686single nucleotide variantNM_001079520.2(DACT1):c.1766A>C (p.Lys589Thr)not specified [RCV004276192]uncertain significance145864650058646500Humanname
401769172CV2693476single nucleotide variantNM_001079520.2(DACT1):c.1919G>A (p.Arg640Gln)not specified [RCV004295422]uncertain significance145864665358646653Humanname
401755234CV2717701single nucleotide variantNM_001079520.2(DACT1):c.1678G>A (p.Gly560Ser)not specified [RCV004330343]uncertain significance145864641258646412Humanname
401778008CV2718422single nucleotide variantNM_001079520.2(DACT1):c.2110A>T (p.Thr704Ser)not specified [RCV004318242]uncertain significance145864684458646844Humanname
401779119CV2733137single nucleotide variantNM_001079520.2(DACT1):c.1474G>A (p.Ala492Thr)not specified [RCV004332067]uncertain significance145864620858646208Humanname
401877508CV2761158single nucleotide variantNM_001079520.2(DACT1):c.1742T>G (p.Leu581Trp)not specified [RCV004341043]uncertain significance145864647658646476Humanname
401854351CV2766866single nucleotide variantNM_001079520.2(DACT1):c.1108T>C (p.Ser370Pro)not specified [RCV004349616]uncertain significance145864584258645842Humanname
401868196CV2767167single nucleotide variantNM_001079520.2(DACT1):c.1811G>C (p.Gly604Ala)not specified [RCV004347563]uncertain significance145864654558646545Humanname
401869774CV2772516single nucleotide variantNM_001079520.2(DACT1):c.1253C>T (p.Thr418Met)not specified [RCV004355287]uncertain significance145864598758645987Humanname
401865433CV2778751single nucleotide variantNM_001079520.2(DACT1):c.2084C>A (p.Ser695Tyr)not specified [RCV004346660]uncertain significance145864681858646818Humanname
401884326CV2789650single nucleotide variantNM_001079520.2(DACT1):c.1155A>C (p.Glu385Asp)not specified [RCV004360248]uncertain significance145864588958645889Humanname
401876750CV2793245single nucleotide variantNM_001079520.2(DACT1):c.1840C>T (p.His614Tyr)not specified [RCV004362077]uncertain significance145864657458646574Humanname
401924207CV2801074single nucleotide variantNM_001079520.2(DACT1):c.1277A>G (p.His426Arg)DACT1-related disorder [RCV003404663]uncertain significance145864601158646011Humanname , trait , alternate_id
401902037CV2810447single nucleotide variantNM_001079520.2(DACT1):c.2009C>T (p.Ala670Val)not provided [RCV003393450]uncertain significance145864674358646743Humanname
405867496CV2842274single nucleotide variantNM_001079520.2(DACT1):c.1637G>A (p.Ser546Asn)EBV-positive nodal T- and NK-cell lymphoma [RCV004560223]likely benign145864637158646371Humanname
405275759CV3199410single nucleotide variantNM_001079520.2(DACT1):c.1771T>G (p.Ser591Ala)DACT1-related disorder [RCV003916819]benign145864650558646505Humanname , trait , alternate_id
405679152CV3236633single nucleotide variantNM_001079520.2(DACT1):c.1601G>A (p.Arg534Gln)not specified [RCV004370784]uncertain significance145864633558646335Humanname
405679158CV3236634single nucleotide variantNM_001079520.2(DACT1):c.1717A>G (p.Lys573Glu)not specified [RCV004370785]uncertain significance145864645158646451Humanname
405679166CV3236636single nucleotide variantNM_001079520.2(DACT1):c.1732C>G (p.Pro578Ala)not specified [RCV004370787]uncertain significance145864646658646466Humanname
405679177CV3236638single nucleotide variantNM_001079520.2(DACT1):c.1792G>C (p.Gly598Arg)not specified [RCV004370789]uncertain significance145864652658646526Humanname
405679188CV3236640single nucleotide variantNM_001079520.2(DACT1):c.1997G>A (p.Gly666Glu)not specified [RCV004370791]uncertain significance145864673158646731Humanname
405679193CV3236641single nucleotide variantNM_001079520.2(DACT1):c.2035C>T (p.Pro679Ser)not specified [RCV004370792]uncertain significance145864676958646769Humanname
405679197CV3236642single nucleotide variantNM_001079520.2(DACT1):c.2169T>A (p.Ser723Arg)not specified [RCV004370793]uncertain significance145864690358646903Humanname
405679202CV3236643single nucleotide variantNM_001079520.2(DACT1):c.2188G>A (p.Val730Met)not specified [RCV004370794]uncertain significance145864692258646922Humanname
405866611CV3401016single nucleotide variantNM_001079520.2(DACT1):c.1703C>T (p.Thr568Met)Townes-Brocks syndrome 2 [RCV004577132]uncertain significance145864643758646437Human1name
407452861CV3420361single nucleotide variantNM_001079520.2(DACT1):c.1645C>T (p.His549Tyr)not specified [RCV004608710]uncertain significance145864637958646379Humanname
407452863CV3420362single nucleotide variantNM_001079520.2(DACT1):c.1708G>A (p.Ala570Thr)not specified [RCV004608711]uncertain significance145864644258646442Humanname
407452865CV3420363single nucleotide variantNM_001079520.2(DACT1):c.1958C>T (p.Ala653Val)not specified [RCV004608712]uncertain significance145864669258646692Humanname
407452875CV3420368single nucleotide variantNM_001079520.2(DACT1):c.2078G>A (p.Cys693Tyr)not specified [RCV004608717]uncertain significance145864681258646812Humanname
407452877CV3420369single nucleotide variantNM_001079520.2(DACT1):c.1127T>C (p.Phe376Ser)not specified [RCV004608718]uncertain significance145864586158645861Humanname
407452879CV3420370single nucleotide variantNM_001079520.2(DACT1):c.1736A>C (p.Asp579Ala)not specified [RCV004608719]uncertain significance145864647058646470Humanname
408385052CV3505547single nucleotide variantNM_001079520.2(DACT1):c.1678G>T (p.Gly560Cys)DACT1-related disorder [RCV004732347]uncertain significance145864641258646412Humanname , trait , alternate_id
408365560CV3507673single nucleotide variantNM_001079520.2(DACT1):c.2029G>T (p.Ala677Ser)DACT1-related disorder [RCV004755089]uncertain significance145864676358646763Humanname , trait , alternate_id
596920637CV3534087single nucleotide variantNM_001079520.2(DACT1):c.2074G>T (p.Glu692Ter)not specified [RCV004783305]uncertain significance145864680858646808Humanname
596947620CV3549179single nucleotide variantNM_001079520.2(DACT1):c.1148C>G (p.Ser383Trp)not provided [RCV004811503]likely benign145864588258645882Humanname
597626947CV3655111single nucleotide variantNM_001079520.2(DACT1):c.1353G>C (p.Glu451Asp)Townes-Brocks syndrome 2 [RCV005006623]|not specified [RCV004913572]uncertain significance145864608758646087Human1name
597674029CV3655113single nucleotide variantNM_001079520.2(DACT1):c.1688C>T (p.Thr563Ile)not specified [RCV004913573]uncertain significance145864642258646422Humanname
597674046CV3655115single nucleotide variantNM_001079520.2(DACT1):c.1240C>G (p.His414Asp)not specified [RCV004913575]uncertain significance145864597458645974Humanname
597674055CV3655116single nucleotide variantNM_001079520.2(DACT1):c.1016T>G (p.Val339Gly)not specified [RCV004913576]uncertain significance145864575058645750Humanname
597675606CV3655117single nucleotide variantNM_001079520.2(DACT1):c.1018T>C (p.Cys340Arg)not specified [RCV004913577]uncertain significance145864575258645752Humanname
597674094CV3655120single nucleotide variantNM_001079520.2(DACT1):c.1322G>A (p.Ser441Asn)not specified [RCV004913580]likely benign145864605658646056Humanname
597674103CV3655122single nucleotide variantNM_001079520.2(DACT1):c.1729T>C (p.Phe577Leu)not specified [RCV004913581]uncertain significance145864646358646463Humanname
597674120CV3655124single nucleotide variantNM_001079520.2(DACT1):c.1886T>A (p.Val629Glu)not specified [RCV004913583]uncertain significance145864662058646620Humanname
597674131CV3655125single nucleotide variantNM_001079520.2(DACT1):c.1120G>A (p.Gly374Arg)not specified [RCV004913584]uncertain significance145864585458645854Humanname
597910302CV3782115single nucleotide variantNM_001079520.2(DACT1):c.1258A>T (p.Lys420Ter)not provided [RCV005128607]uncertain significance145864599258645992Humanname
598251051CV3952766single nucleotide variantNM_001079520.2(DACT1):c.1769C>T (p.Ala590Val)not specified [RCV005322984]uncertain significance145864650358646503Humanname
598251057CV3952767single nucleotide variantNM_001079520.2(DACT1):c.1759C>T (p.Leu587Phe)not specified [RCV005322985]uncertain significance145864649358646493Humanname
598251070CV3952769single nucleotide variantNM_001079520.2(DACT1):c.1171G>A (p.Ala391Thr)not specified [RCV005322987]uncertain significance145864590558645905Humanname
598251097CV3952774single nucleotide variantNM_001079520.2(DACT1):c.1448C>T (p.Pro483Leu)not specified [RCV005322992]uncertain significance145864618258646182Humanname
598251106CV3952776single nucleotide variantNM_001079520.2(DACT1):c.1907G>A (p.Arg636Gln)not specified [RCV005322994]uncertain significance145864664158646641Humanname
598251111CV3952777single nucleotide variantNM_001079520.2(DACT1):c.1598A>G (p.His533Arg)not specified [RCV005322995]uncertain significance145864633258646332Humanname
12905443CV413180single nucleotide variantNM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter)Townes-Brocks syndrome 2 [RCV000487483]pathogenic145864587958645879Human1name
15175160CV714173single nucleotide variantNM_001079520.2(DACT1):c.1193T>C (p.Leu398Pro)not provided [RCV000972879]benign145864592758645927Humanname
15183804CV739255single nucleotide variantNM_001079520.2(DACT1):c.1216G>A (p.Ala406Thr)not provided [RCV000908138]likely benign145864595058645950Humanname
15129192CV739256single nucleotide variantNM_001079520.2(DACT1):c.1861C>T (p.His621Tyr)DACT1-related disorder [RCV004754615]|not provided [RCV000897399]likely benign145864659558646595Human1name , trait , alternate_id
15190242CV739257single nucleotide variantNM_001079520.2(DACT1):c.1924T>C (p.Trp642Arg)not provided [RCV000909891]likely benign145864665858646658Humanname
15140271CV739258single nucleotide variantNM_001079520.2(DACT1):c.2026T>A (p.Tyr676Asn)not provided [RCV000899290]|not specified [RCV004907669]likely benign|uncertain significance145864676058646760Humanname
15130180CV754097single nucleotide variantNM_001079520.2(DACT1):c.1948T>C (p.Tyr650His)DACT1-related disorder [RCV004754631]|not provided [RCV000919962]|not specified [RCV004029449]likely benign|uncertain significance145864668258646682Human1name , trait , alternate_id
38468359CV920875single nucleotide variantNM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp)not provided [RCV001200592]|not specified [RCV004033488]likely benign|uncertain significance145864655458646554Humanname
40815411CV970994single nucleotide variantNM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile)Townes-Brocks syndrome 2 [RCV001262782]uncertain significance145864694158646941Human1name
13609121CV535383microsatelliteNM_001079520.2(DACT1):c.868_869del (p.Trp290fs)DACT1-related neural tube defects [RCV000656341]likely pathogenic145864560058645601Humanname , trait
150339435CV1174849deletionNM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs)not provided [RCV001543506]likely pathogenic145864609658646097Humanname