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


612 records found for search term Dll1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405267296CV3205524single nucleotide variantNM_005618.4(DLL1):c.-9C>ADLL1-related disorder [RCV003947374]likely benign6170290148170290148Humanname , trait , alternate_id
150503054CV1257701single nucleotide variantNM_005618.4(DLL1):c.*39A>Cnot provided [RCV001677389]benign6170282835170282835Humanname
405854223CV3392914single nucleotide variantNM_005618.4(DLL1):c.-17G>Anot specified [RCV004527071]uncertain significance6170290156170290156Humanname
127243943CV1053751single nucleotide variantNM_005618.4(DLL1):c.54+5G>CNeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001375947]uncertain significance6170290081170290081Human1name
150459037CV1202860single nucleotide variantNM_005618.4(DLL1):c.-234C>Gnot provided [RCV001586513]likely benign6170290373170290373Humanname
150508419CV1244827single nucleotide variantNM_005618.4(DLL1):c.*184C>Tnot provided [RCV001659076]likely benign6170282690170282690Humanname
150446406CV1261359single nucleotide variantNM_005618.4(DLL1):c.*194C>Tnot provided [RCV001680033]benign6170282680170282680Humanname
150463307CV1273134single nucleotide variantNM_005618.4(DLL1):c.-158G>Anot provided [RCV001693891]benign6170290297170290297Humanname
151353487CV1326628single nucleotide variantNM_005618.4(DLL1):c.55-6G>Cnot provided [RCV001816453]likely benign6170289814170289814Humanname
152025748CV1586522single nucleotide variantNM_005618.4(DLL1):c.55-9C>Tnot provided [RCV002184923]likely benign6170289817170289817Humanname
156446751CV1948104single nucleotide variantNM_005618.4(DLL1):c.55-7C>Tnot provided [RCV003118267]likely benign6170289815170289815Humanname
156375027CV2190934single nucleotide variantNM_005618.4(DLL1):c.54+9G>Tnot provided [RCV003050029]likely benign6170290077170290077Humanname
405234827CV3040705single nucleotide variantNM_005618.4(DLL1):c.55-4G>Anot provided [RCV003712148]likely benign6170289812170289812Humanname
408385394CV3527004single nucleotide variantNM_005618.4(DLL1):c.54+5G>Anot provided [RCV004772317]uncertain significance6170290081170290081Humanname
597938654CV3760149single nucleotide variantNM_005618.4(DLL1):c.55-8C>Tnot provided [RCV005077073]likely benign6170289816170289816Humanname
15140112CV744270deletionNM_005618.4(DLL1):c.55-7delnot provided [RCV000899260]benign6170289815170289815Humanname
15175261CV775089single nucleotide variantNM_005618.4(DLL1):c.54+7G>Anot provided [RCV000928633]likely benign6170290079170290079Humanname
15173963CV789165single nucleotide variantNM_005618.4(DLL1):c.54+1G>ANeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984544]pathogenic6170290085170290085Human1name
150433769CV1204180single nucleotide variantNM_005618.4(DLL1):c.55-44C>Tnot provided [RCV001581929]likely benign6170289852170289852Humanname
152059155CV1597475single nucleotide variantNM_005618.4(DLL1):c.54+11A>Tnot provided [RCV002128136]benign6170290075170290075Humanname
156374455CV1903035single nucleotide variantNM_005618.4(DLL1):c.862+6C>Anot provided [RCV003092743]conflicting interpretations of pathogenicity|uncertain significance6170285563170285563Humanname
156155529CV1987714single nucleotide variantNM_005618.4(DLL1):c.54+17G>Cnot provided [RCV002642219]likely benign6170290069170290069Humanname
156213442CV2018985single nucleotide variantNM_005618.4(DLL1):c.412+9A>Tnot provided [RCV002700716]likely benign6170288720170288720Humanname
156135147CV2109495single nucleotide variantNM_005618.4(DLL1):c.55-11C>Tnot provided [RCV002914696]likely benign6170289819170289819Humanname
243051523CV2415890single nucleotide variantNM_005618.4(DLL1):c.413-3T>GNeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003148508]uncertain significance6170288499170288499Human1name
401829145CV2417731single nucleotide variantNM_005618.4(DLL1):c.351+1G>TNeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003326677]pathogenic6170289511170289511Human1name
405131026CV3115065single nucleotide variantNM_005618.4(DLL1):c.670+8T>Gnot provided [RCV003815910]likely benign6170288231170288231Humanname
405186992CV3156473single nucleotide variantNM_005618.4(DLL1):c.351+7G>Anot provided [RCV003859351]likely benign6170289505170289505Humanname
596922118CV3529687single nucleotide variantNM_005618.4(DLL1):c.351+1G>ANeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004776545]uncertain significance6170289511170289511Human1name
596921056CV3534672single nucleotide variantNM_005618.4(DLL1):c.731+3A>Gnot provided [RCV004784229]uncertain significance6170286235170286235Humanname
596921786CV3535412single nucleotide variantNM_005618.4(DLL1):c.862+3A>TNeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004784967]uncertain significance6170285566170285566Human1name
597847846CV3762092single nucleotide variantNM_005618.4(DLL1):c.55-19C>Gnot provided [RCV005087510]likely benign6170289827170289827Humanname
597854037CV3762414single nucleotide variantNM_005618.4(DLL1):c.352-4C>Anot specified [RCV005088330]uncertain significance6170288793170288793Humanname
597917185CV3811124single nucleotide variantNM_005618.4(DLL1):c.54+13G>Cnot provided [RCV005155159]likely benign6170290073170290073Humanname
15191965CV777606single nucleotide variantNM_005618.4(DLL1):c.731+9G>Cnot provided [RCV000954930]benign6170286229170286229Humanname
150453028CV1231777single nucleotide variantNM_005618.4(DLL1):c.671-44C>Gnot provided [RCV001648084]benign6170286342170286342Human1name
150453028CV1231777single nucleotide variantNM_005618.4(DLL1):c.671-44C>Gnot provided [RCV001648084]benign6170286342170286343Human1name
150431472CV1243707single nucleotide variantNM_005618.4(DLL1):c.670+51G>Anot provided [RCV001663327]benign6170288188170288188Humanname
150462244CV1253345single nucleotide variantNM_005618.4(DLL1):c.732-32A>Gnot provided [RCV001669674]benign6170285731170285731Humanname
150452465CV1254969single nucleotide variantNM_005618.4(DLL1):c.670+22G>Anot provided [RCV001668028]benign6170288217170288217Humanname
150470865CV1258681single nucleotide variantNM_005618.4(DLL1):c.55-128C>Gnot provided [RCV001684227]benign6170289936170289936Human1name
150539118CV1297150single nucleotide variantNM_005618.4(DLL1):c.2048+2T>Cnot provided [RCV001765248]uncertain significance6170283229170283229Humanname
151233687CV1317970single nucleotide variantNM_005618.4(DLL1):c.1250-1G>ANeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001787704]pathogenic6170284030170284030Human1name
151351271CV1323804single nucleotide variantNM_005618.4(DLL1):c.670+30A>Gnot provided [RCV001810350]likely benign6170288209170288209Humanname
151870800CV1453942single nucleotide variantNM_005618.4(DLL1):c.2048+4C>Tnot provided [RCV001939772]uncertain significance6170283227170283227Humanname
152050603CV1533201single nucleotide variantNM_005618.4(DLL1):c.412+15C>Gnot provided [RCV002166828]likely benign6170288714170288714Humanname
152125442CV1565585single nucleotide variantNM_005618.4(DLL1):c.1033-6G>Anot provided [RCV002136251]likely benign6170285141170285141Humanname
152055664CV1610169deletionNM_005618.4(DLL1):c.2167-3delnot provided [RCV002167397]benign|likely benign6170282882170282882Humanname
156435967CV1937262single nucleotide variantNM_005618.4(DLL1):c.2167-8C>Tnot provided [RCV003105123]likely benign6170282887170282887Humanname
156408331CV1957803single nucleotide variantNM_005618.4(DLL1):c.863-13C>Tnot provided [RCV002586486]likely benign6170285436170285436Humanname
156130495CV1962679single nucleotide variantNM_005618.4(DLL1):c.731+17T>Cnot provided [RCV002572211]likely benign6170286221170286221Humanname
156205869CV1990419deletionNM_005618.4(DLL1):c.351+14delnot provided [RCV002625895]likely benign6170289498170289498Humanname
156297837CV2005546single nucleotide variantNM_005618.4(DLL1):c.670+18C>Tnot provided [RCV002671027]uncertain significance6170288221170288221Humanname
156315143CV2017935single nucleotide variantNM_005618.4(DLL1):c.2167-7C>Tnot provided [RCV002671858]likely benign6170282886170282886Humanname
156251814CV2082631single nucleotide variantNM_005618.4(DLL1):c.862+15C>Gnot provided [RCV002876969]likely benign6170285554170285554Humanname
156218522CV2107181single nucleotide variantNM_005618.4(DLL1):c.413-16C>Gnot provided [RCV002918464]likely benign6170288512170288512Humanname
402519867CV2856978single nucleotide variantNM_005618.4(DLL1):c.413-10C>Tnot provided [RCV003575637]likely benign6170288506170288506Humanname
405157734CV2890834single nucleotide variantNM_005618.4(DLL1):c.1249+8G>Tnot provided [RCV003562087]likely benign6170284911170284911Humanname
405222469CV2891039deletionNM_005618.4(DLL1):c.1249+1delnot provided [RCV003554137]pathogenic6170284918170284918Humanname
405082115CV3137490single nucleotide variantNM_005618.4(DLL1):c.1250-4C>Tnot provided [RCV003834199]likely benign6170284033170284033Humanname
405051132CV3150965single nucleotide variantNM_005618.4(DLL1):c.1033-7C>Tnot provided [RCV003849569]likely benign6170285142170285142Humanname
405132432CV3163805deletionNM_005618.4(DLL1):c.412+18delnot provided [RCV003854793]likely benign6170288711170288711Humanname
405263227CV3189501single nucleotide variantNM_005618.4(DLL1):c.1249+9G>ADLL1-related disorder [RCV003896735]likely benign6170284910170284910Humanname , trait , alternate_id
597905965CV3738665single nucleotide variantNM_005618.4(DLL1):c.2048+3G>Anot provided [RCV005072899]uncertain significance6170283228170283228Humanname
597866974CV3739100deletionNM_005618.4(DLL1):c.731+14delnot provided [RCV005068167]likely benign6170286224170286224Humanname
597971359CV3750704single nucleotide variantNM_005618.4(DLL1):c.1032+8G>Anot provided [RCV005084448]likely benign6170285246170285246Humanname
597966793CV3751666single nucleotide variantNM_005618.4(DLL1):c.351+17C>Tnot provided [RCV005083036]likely benign6170289495170289495Humanname
597961056CV3756291duplicationNM_005618.4(DLL1):c.2167-3dupnot provided [RCV005081608]benign6170282881170282882Humanname
597942763CV3786303single nucleotide variantNM_005618.4(DLL1):c.732-12C>Gnot provided [RCV005133994]likely benign6170285711170285711Humanname
597943677CV3812389single nucleotide variantNM_005618.4(DLL1):c.351+15T>Gnot provided [RCV005159599]likely benign6170289497170289497Humanname
597846324CV3827953single nucleotide variantNM_005618.4(DLL1):c.671-12C>Tnot provided [RCV005173028]likely benign6170286310170286310Humanname
597959049CV3848589single nucleotide variantNM_005618.4(DLL1):c.2166+6T>Cnot provided [RCV005192290]uncertain significance6170282982170282982Humanname
597936768CV3852257single nucleotide variantNM_005618.4(DLL1):c.2167-4C>Tnot provided [RCV005186854]likely benign6170282883170282883Humanname
597934799CV3858846single nucleotide variantNM_005618.4(DLL1):c.731+10C>Tnot provided [RCV005207316]likely benign6170286228170286228Humanname
15178048CV744112single nucleotide variantNM_005618.4(DLL1):c.1250-9G>Cnot provided [RCV000906785]benign6170284038170284038Humanname
150411015CV1190469single nucleotide variantNM_005618.4(DLL1):c.731+206A>Cnot provided [RCV001566349]likely benign6170286032170286032Humanname
150502426CV1223211single nucleotide variantNM_005618.4(DLL1):c.2167-42T>Cnot provided [RCV001621145]benign6170282921170282921Humanname
150507538CV1226617single nucleotide variantNM_005618.4(DLL1):c.2048+11C>Tnot provided [RCV001635985]benign6170283220170283220Humanname
150500566CV1256123single nucleotide variantNM_005618.4(DLL1):c.351+248G>Anot provided [RCV001676747]benign6170289264170289264Humanname
150453131CV1260477single nucleotide variantNM_005618.4(DLL1):c.2167-53G>Cnot provided [RCV001680968]benign6170282932170282932Humanname
150438119CV1264779single nucleotide variantNM_005618.4(DLL1):c.2048+26G>Cnot provided [RCV001678772]benign6170283205170283205Humanname
152167915CV1547825single nucleotide variantNM_005618.4(DLL1):c.2166+19C>Tnot provided [RCV002160983]benign6170282969170282969Humanname
152150999CV1549964single nucleotide variantNM_005618.4(DLL1):c.1250-11C>Tnot provided [RCV002201964]likely benign6170284040170284040Humanname
156206608CV1913228single nucleotide variantNM_005618.4(DLL1):c.1250-10T>Gnot provided [RCV002595907]uncertain significance6170284039170284039Humanname
156295616CV1958733single nucleotide variantNM_005618.4(DLL1):c.1032+19G>Anot provided [RCV002577998]likely benign6170285235170285235Humanname
156320081CV1968352single nucleotide variantNM_005618.4(DLL1):c.2166+20G>Anot provided [RCV002630285]likely benign6170282968170282968Humanname
156398083CV1985424single nucleotide variantNM_005618.4(DLL1):c.2048+12G>Anot provided [RCV002635705]likely benign6170283219170283219Humanname
155942647CV2006578single nucleotide variantNM_005618.4(DLL1):c.2048+17G>Anot provided [RCV002685562]likely benign6170283214170283214Humanname
402511958CV2859011single nucleotide variantNM_005618.4(DLL1):c.2049-17C>Anot provided [RCV003547098]likely benign6170283122170283122Humanname
405160618CV3125052single nucleotide variantNM_005618.4(DLL1):c.2049-16T>Cnot provided [RCV003818323]likely benign6170283121170283121Humanname
405186090CV3160123single nucleotide variantNM_005618.4(DLL1):c.1249+11A>Cnot provided [RCV003859178]likely benign6170284908170284908Humanname
597863703CV3745373single nucleotide variantNM_005618.4(DLL1):c.2049-12T>Cnot provided [RCV005067729]likely benign6170283117170283117Humanname
597850642CV3746927single nucleotide variantNM_005618.4(DLL1):c.2048+16C>Tnot provided [RCV005060555]likely benign6170283215170283215Humanname
597844605CV3752637single nucleotide variantNM_005618.4(DLL1):c.1249+14T>Gnot provided [RCV005087043]likely benign6170284905170284905Humanname
597924162CV3808607single nucleotide variantNM_005618.4(DLL1):c.2048+15C>Tnot provided [RCV005156121]likely benign6170283216170283216Humanname
597837951CV3828890single nucleotide variantNM_005618.4(DLL1):c.1250-16T>Cnot provided [RCV005171583]likely benign6170284045170284045Humanname
150335506CV1171532single nucleotide variantNM_005618.4(DLL1):c.1249+175G>Anot provided [RCV001540597]benign6170284744170284744Humanname
150424608CV1183785single nucleotide variantNM_005618.4(DLL1):c.1250-230C>Tnot provided [RCV001556888]likely benign6170284259170284259Humanname
150444047CV1232960single nucleotide variantNM_005618.4(DLL1):c.1249+277A>Gnot provided [RCV001645632]benign6170284642170284642Humanname
150500878CV1224876microsatelliteNM_005618.4(DLL1):c.351+223GAG[2]not provided [RCV001620708]benign6170289281170289283Humanname
153305211CV1687608deletionNM_005618.4(DLL1):c.54+6_54+13delDLL1-related disorder [RCV003971216]|not provided [RCV002263429]likely benign|conflicting interpretations of pathogenicity6170290073170290080Human1name , trait , alternate_id
329353444CV2477008deletionNM_005618.4(DLL1):c.327_351+36delnot provided [RCV003223240]likely pathogenic6170289476170289536Humanname
15159386CV749992single nucleotide variantNM_005618.4(DLL1):c.15C>T (p.Cys5=)not provided [RCV000925270]likely benign6170290125170290125Humanname
155997719CV1986994single nucleotide variantNM_005618.4(DLL1):c.42C>T (p.Ala14=)not provided [RCV002618304]likely benign6170290098170290098Humanname
405243147CV3043068single nucleotide variantNM_005618.4(DLL1):c.36C>G (p.Leu12=)not provided [RCV003719578]likely benign6170290104170290104Humanname
405075971CV3140765single nucleotide variantNM_005618.4(DLL1):c.85C>T (p.Leu29=)not provided [RCV003833728]likely benign6170289778170289778Humanname
405245148CV3161722single nucleotide variantNM_005618.4(DLL1):c.39G>A (p.Ser13=)not provided [RCV003868435]likely benign6170290101170290101Humanname
405291181CV3222144deletionNM_005618.4(DLL1):c.1250-8_1250-1delNeurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003984963]likely pathogenic6170284030170284037Human1name
597935651CV3811374single nucleotide variantNM_005618.4(DLL1):c.7A>G (p.Ser3Gly)not provided [RCV005157889]uncertain significance6170290133170290133Humanname
597864491CV3814228single nucleotide variantNM_005618.4(DLL1):c.57C>T (p.Val19=)not provided [RCV005147297]likely benign6170289806170289806Humanname
598232917CV3886494single nucleotide variantNM_005618.4(DLL1):c.1A>G (p.Met1Val)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005255938]likely pathogenic6170290139170290139Human1name
152104225CV1574747single nucleotide variantNM_005618.4(DLL1):c.171G>A (p.Arg57=)not provided [RCV002095931]likely benign6170289692170289692Humanname
152075125CV1616621single nucleotide variantNM_005618.4(DLL1):c.132C>T (p.Cys44=)not provided [RCV002210491]likely benign6170289731170289731Humanname
156414697CV1909071single nucleotide variantNM_005618.4(DLL1):c.255C>G (p.Pro85=)not provided [RCV002588756]benign6170289608170289608Humanname
155923936CV2034503single nucleotide variantNM_005618.4(DLL1):c.255C>T (p.Pro85=)not provided [RCV002750843]likely benign6170289608170289608Humanname
156222995CV2115220deletionNM_005618.4(DLL1):c.1033-22_1033-8delnot provided [RCV002932531]pathogenic6170285143170285157Humanname
156023344CV2145456single nucleotide variantNM_005618.4(DLL1):c.213G>A (p.Val71=)not provided [RCV003018337]likely benign6170289650170289650Humanname
401921089CV2828154single nucleotide variantNM_005618.4(DLL1):c.207C>T (p.Ala69=)not provided [RCV003432184]likely benign6170289656170289656Humanname
401921091CV2828155single nucleotide variantNM_005618.4(DLL1):c.153A>C (p.Pro51=)not provided [RCV003432185]likely benign6170289710170289710Humanname
405203941CV3116880single nucleotide variantNM_005618.4(DLL1):c.243C>T (p.Ser81=)not provided [RCV003822364]likely benign6170289620170289620Humanname
405260229CV3190280single nucleotide variantNM_005618.4(DLL1):c.285C>T (p.Pro95=)DLL1-related disorder [RCV003894679]likely benign6170289578170289578Humanname , trait , alternate_id
597965528CV3797193single nucleotide variantNM_005618.4(DLL1):c.174C>G (p.Thr58=)not provided [RCV005140151]likely benign6170289689170289689Humanname
15108262CV749991single nucleotide variantNM_005618.4(DLL1):c.177C>T (p.Phe59=)not provided [RCV000916109]likely benign6170289686170289686Humanname
15182015CV765595single nucleotide variantNM_005618.4(DLL1):c.105G>A (p.Lys35=)not provided [RCV000930265]likely benign6170289758170289758Humanname
150548338CV1316242microsatelliteNM_005618.4(DLL1):c.671-193_671-191delnot provided [RCV001786043]likely benign6170286489170286491Humanname
151854973CV1344480single nucleotide variantNM_005618.4(DLL1):c.90G>C (p.Gln30His)Inborn genetic diseases [RCV004043369]|not provided [RCV001923281]uncertain significance6170289773170289773Human1name
152141624CV1628973single nucleotide variantNM_005618.4(DLL1):c.588C>T (p.Asp196=)not provided [RCV002100855]likely benign6170288321170288321Humanname
152040546CV1644615single nucleotide variantNM_005618.4(DLL1):c.726A>G (p.Glu242=)not provided [RCV002165624]likely benign6170286243170286243Humanname
152074307CV1652675single nucleotide variantNM_005618.4(DLL1):c.936C>T (p.Tyr312=)not provided [RCV002148496]likely benign6170285350170285350Humanname
152091124CV1662131single nucleotide variantNM_005618.4(DLL1):c.639C>T (p.Asn213=)not provided [RCV002132057]benign6170288270170288270Humanname
152154544CV1667927single nucleotide variantNM_005618.4(DLL1):c.76G>T (p.Glu26Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002221820]likely pathogenic6170289787170289787Human1name
156395158CV1877069single nucleotide variantNM_005618.4(DLL1):c.597C>T (p.Phe199=)not provided [RCV003068510]benign|likely benign6170288312170288312Humanname
156018183CV1909261single nucleotide variantNM_005618.4(DLL1):c.453G>A (p.Arg151=)not provided [RCV002619256]likely benign6170288456170288456Humanname
156291009CV1929282single nucleotide variantNM_005618.4(DLL1):c.351G>C (p.Pro117=)DLL1-related disorder [RCV003420379]|not provided [RCV002647194]uncertain significance6170289512170289512Human1name , trait , alternate_id
155943300CV1935457single nucleotide variantNM_005618.4(DLL1):c.38C>A (p.Ser13Ter)not provided [RCV002511203]pathogenic6170290102170290102Humanname
156444881CV1948929single nucleotide variantNM_005618.4(DLL1):c.306C>G (p.Ser102=)not provided [RCV003115811]likely benign6170289557170289557Humanname
156412095CV1970149single nucleotide variantNM_005618.4(DLL1):c.615G>C (p.Gly205=)not provided [RCV002608442]likely benign6170288294170288294Humanname
156272339CV2018445single nucleotide variantNM_005618.4(DLL1):c.306C>A (p.Ser102=)not provided [RCV002715025]likely benign6170289557170289557Humanname
155937083CV2114257single nucleotide variantNM_005618.4(DLL1):c.351G>T (p.Pro117=)not provided [RCV002904214]uncertain significance6170289512170289512Humanname
155935393CV2149788single nucleotide variantNM_005618.4(DLL1):c.28G>A (p.Ala10Thr)not provided [RCV003013901]uncertain significance6170290112170290112Humanname
401727014CV2736222single nucleotide variantNM_005618.4(DLL1):c.768G>A (p.Glu256=)not provided [RCV003312670]likely benign6170285663170285663Humanname
402488410CV2856466single nucleotide variantNM_005618.4(DLL1):c.31G>T (p.Val11Leu)not provided [RCV003572763]uncertain significance6170290109170290109Humanname
405240315CV2882710single nucleotide variantNM_005618.4(DLL1):c.825C>T (p.Asn275=)not provided [RCV003557187]likely benign6170285606170285606Humanname
405077708CV2945293single nucleotide variantNM_005618.4(DLL1):c.642T>C (p.Pro214=)not provided [RCV003664370]likely benign6170288267170288267Humanname
405208864CV3065538single nucleotide variantNM_005618.4(DLL1):c.765C>T (p.Asp255=)not provided [RCV003731702]likely benign6170285666170285666Humanname
405229880CV3073050single nucleotide variantNM_005618.4(DLL1):c.918C>T (p.Asn306=)not provided [RCV003734711]likely benign6170285368170285368Humanname
405119616CV3116408single nucleotide variantNM_005618.4(DLL1):c.468C>T (p.Gly156=)not provided [RCV003814709]likely benign6170288441170288441Humanname
405128492CV3132995single nucleotide variantNM_005618.4(DLL1):c.975C>T (p.Cys325=)not provided [RCV003838158]likely benign6170285311170285311Humanname
405691378CV3227465single nucleotide variantNM_005618.4(DLL1):c.73T>C (p.Phe25Leu)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003991810]uncertain significance6170289790170289790Human1name
405708143CV3240468single nucleotide variantNM_005618.4(DLL1):c.52C>G (p.Gln18Glu)Inborn genetic diseases [RCV004376224]uncertain significance6170290088170290088Human1name
405855172CV3395770single nucleotide variantNM_005618.4(DLL1):c.76G>A (p.Glu26Lys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004556033]likely pathogenic6170289787170289787Human1name
407456723CV3415961single nucleotide variantNM_005618.4(DLL1):c.552C>T (p.Tyr184=)not provided [RCV004598838]likely benign6170288357170288357Humanname
408391051CV3527863single nucleotide variantNM_005618.4(DLL1):c.75C>G (p.Phe25Leu)not provided [RCV004775132]uncertain significance6170289788170289788Humanname
596944400CV3543130deletionNM_005618.4(DLL1):c.181del (p.Arg61fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004799002]pathogenic6170289682170289682Human1name
597959566CV3752344single nucleotide variantNM_005618.4(DLL1):c.438C>T (p.Arg146=)not provided [RCV005081294]likely benign6170288471170288471Humanname
597959694CV3797621single nucleotide variantNM_005618.4(DLL1):c.45G>C (p.Leu15Phe)not provided [RCV005138308]uncertain significance6170290095170290095Humanname
597889456CV3804840single nucleotide variantNM_005618.4(DLL1):c.67G>A (p.Gly23Arg)not provided [RCV005151102]uncertain significance6170289796170289796Humanname
597857779CV3822293single nucleotide variantNM_005618.4(DLL1):c.867G>C (p.Leu289=)not provided [RCV005174591]likely benign6170285419170285419Humanname
597904172CV3856225single nucleotide variantNM_005618.4(DLL1):c.750G>A (p.Gln250=)not provided [RCV005202453]likely benign6170285681170285681Humanname
15176046CV710345single nucleotide variantNM_005618.4(DLL1):c.921G>A (p.Thr307=)not provided [RCV000973094]likely benign6170285365170285365Humanname
15154727CV721893single nucleotide variantNM_005618.4(DLL1):c.813C>T (p.Pro271=)not provided [RCV000880275]benign|likely benign6170285618170285618Humanname
15113914CV721894single nucleotide variantNM_005618.4(DLL1):c.573C>T (p.Phe191=)not provided [RCV000894760]likely benign6170288336170288336Humanname
15148949CV735548single nucleotide variantNM_005618.4(DLL1):c.990C>T (p.Asp330=)not provided [RCV000900829]likely benign6170285296170285296Humanname
15194702CV749988single nucleotide variantNM_005618.4(DLL1):c.978G>A (p.Glu326=)not provided [RCV000911199]likely benign6170285308170285308Humanname
15164935CV749989single nucleotide variantNM_005618.4(DLL1):c.507G>A (p.Thr169=)DLL1-related disorder [RCV003978063]|not provided [RCV000926502]likely benign6170288402170288402Human1name , trait , alternate_id
15126326CV749990single nucleotide variantNM_005618.4(DLL1):c.372T>C (p.Ile124=)not provided [RCV000919304]likely benign6170288769170288769Humanname
15131513CV782497single nucleotide variantNM_005618.4(DLL1):c.357C>T (p.Thr119=)not provided [RCV000981225]likely benign6170288784170288784Humanname
40815868CV970494deletionNM_005618.4(DLL1):c.152del (p.Pro51fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001261968]pathogenic6170289711170289711Human1name
126743029CV1016693single nucleotide variantNM_005618.4(DLL1):c.134G>A (p.Cys45Tyr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001330100]uncertain significance6170289729170289729Human1name
127230288CV1087050duplicationNM_005618.4(DLL1):c.845dup (p.Leu283fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002282543]|See cases [RCV001420223]|not provided [RCV003236897]pathogenic|uncertain significance6170285585170285586Human1name
150455641CV1268963single nucleotide variantNM_005618.4(DLL1):c.1422G>A (p.Thr474=)not provided [RCV001692787]benign6170283857170283857Humanname
150529364CV1288921single nucleotide variantNM_005618.4(DLL1):c.1221C>T (p.Asp407=)not provided [RCV001727389]likely benign6170284947170284947Humanname
151353486CV1326627single nucleotide variantNM_005618.4(DLL1):c.1077C>T (p.Tyr359=)not provided [RCV001816452]likely benign6170285091170285091Humanname
151728479CV1410012single nucleotide variantNM_005618.4(DLL1):c.292G>A (p.Gly98Arg)not provided [RCV001910625]uncertain significance6170289571170289571Humanname
151768400CV1410470single nucleotide variantNM_005618.4(DLL1):c.2019G>A (p.Glu673=)not provided [RCV001988008]likely benign6170283260170283260Humanname
152134151CV1576340single nucleotide variantNM_005618.4(DLL1):c.1740C>T (p.Ala580=)not provided [RCV002119471]benign6170283539170283539Humanname
152153521CV1577921single nucleotide variantNM_005618.4(DLL1):c.152C>T (p.Pro51Leu)not provided [RCV002122088]benign6170289711170289711Humanname
152119406CV1589238single nucleotide variantNM_005618.4(DLL1):c.1155C>T (p.Pro385=)not provided [RCV002216574]likely benign6170285013170285013Humanname
152082153CV1589526single nucleotide variantNM_005618.4(DLL1):c.1647C>T (p.Cys549=)not provided [RCV002112899]likely benign6170283632170283632Humanname
152137841CV1591904single nucleotide variantNM_005618.4(DLL1):c.1704C>T (p.Cys568=)not provided [RCV002100357]likely benign6170283575170283575Humanname
152148093CV1623833single nucleotide variantNM_005618.4(DLL1):c.1299C>T (p.Ala433=)not provided [RCV002157743]benign6170283980170283980Humanname
152067401CV1647176single nucleotide variantNM_005618.4(DLL1):c.2151C>T (p.Cys717=)not provided [RCV002129156]likely benign6170283003170283003Humanname
152146238CV1649503single nucleotide variantNM_005618.4(DLL1):c.1602G>A (p.Glu534=)not provided [RCV002121083]likely benign6170283677170283677Humanname
152054664CV1665474single nucleotide variantNM_005618.4(DLL1):c.1410G>A (p.Pro470=)not provided [RCV002089560]likely benign6170283869170283869Humanname
152155600CV1668385single nucleotide variantNM_005618.4(DLL1):c.168C>A (p.Cys56Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002222286]pathogenic6170289695170289695Human1name
152999802CV1683362single nucleotide variantNM_005618.4(DLL1):c.1626A>C (p.Pro542=)See cases [RCV002252546]uncertain significance6170283653170283653Humanname
153305209CV1687606single nucleotide variantNM_005618.4(DLL1):c.1308G>A (p.Ser436=)not provided [RCV002263427]likely benign6170283971170283971Humanname
153305210CV1687607single nucleotide variantNM_005618.4(DLL1):c.1158T>C (p.Asp386=)not provided [RCV002263428]likely benign6170285010170285010Humanname
155748596CV1772224single nucleotide variantNM_005618.4(DLL1):c.154C>G (p.Pro52Ala)not provided [RCV002303822]uncertain significance6170289709170289709Humanname
156413137CV1887686single nucleotide variantNM_005618.4(DLL1):c.288C>G (p.Asp96Glu)not provided [RCV003073172]uncertain significance6170289575170289575Humanname
156285335CV1897083single nucleotide variantNM_005618.4(DLL1):c.283C>T (p.Pro95Ser)DLL1-related disorder [RCV003410091]|Inborn genetic diseases [RCV003087265]|not provided [RCV003087266]uncertain significance6170289580170289580Human2name , trait , alternate_id
156379639CV1903400single nucleotide variantNM_005618.4(DLL1):c.1821C>T (p.Ile607=)DLL1-related disorder [RCV003926709]|not provided [RCV003093168]benign|likely benign6170283458170283458Human1name , trait , alternate_id
156417192CV1915762single nucleotide variantNM_005618.4(DLL1):c.1428G>A (p.Arg476=)not provided [RCV002610588]likely benign6170283851170283851Humanname
156376253CV1917650single nucleotide variantNM_005618.4(DLL1):c.1956C>T (p.Thr652=)not provided [RCV002603606]likely benign6170283323170283323Humanname
156418706CV1918652single nucleotide variantNM_005618.4(DLL1):c.1038C>T (p.Leu346=)not provided [RCV002611910]likely benign6170285130170285130Humanname
156027336CV1918923single nucleotide variantNM_005618.4(DLL1):c.1641C>T (p.Ala547=)DLL1-related disorder [RCV003973703]|not provided [RCV002637006]benign|likely benign6170283638170283638Human1name , trait , alternate_id
156440786CV1940507single nucleotide variantNM_005618.4(DLL1):c.1629C>T (p.Phe543=)not provided [RCV003110826]likely benign6170283650170283650Humanname
156437759CV1947774single nucleotide variantNM_005618.4(DLL1):c.143G>A (p.Gly48Asp)not provided [RCV003107301]uncertain significance6170289720170289720Humanname
156410198CV1962148single nucleotide variantNM_005618.4(DLL1):c.1914G>A (p.Ala638=)not provided [RCV002587076]likely benign6170283365170283365Humanname
156072744CV1968908single nucleotide variantNM_005618.4(DLL1):c.1794T>C (p.Arg598=)not provided [RCV002621293]likely benign6170283485170283485Humanname
156125888CV1969414single nucleotide variantNM_005618.4(DLL1):c.289G>A (p.Gly97Ser)not provided [RCV002593307]uncertain significance6170289574170289574Humanname
155995418CV1986858single nucleotide variantNM_005618.4(DLL1):c.1038C>G (p.Leu346=)not provided [RCV002618208]likely benign6170285130170285130Humanname
155952660CV2014097single nucleotide variantNM_005618.4(DLL1):c.1227C>T (p.Cys409=)not provided [RCV002686104]likely benign6170284941170284941Humanname
156068300CV2018435single nucleotide variantNM_005618.4(DLL1):c.1974C>T (p.His658=)not provided [RCV002705602]likely benign6170283305170283305Humanname
156207666CV2021548deletionNM_005618.4(DLL1):c.845del (p.Gly282fs)Inborn genetic diseases [RCV002711640]|not provided [RCV002745457]pathogenic6170285586170285586Human1name
155905870CV2027579single nucleotide variantNM_005618.4(DLL1):c.1008T>C (p.Pro336=)not provided [RCV002726466]likely benign6170285278170285278Humanname
155941994CV2034608single nucleotide variantNM_005618.4(DLL1):c.1323C>T (p.Asp441=)not provided [RCV002775255]likely benign6170283956170283956Humanname
156027915CV2048988single nucleotide variantNM_005618.4(DLL1):c.235T>G (p.Tyr79Asp)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002795909]likely pathogenic6170289628170289628Human1name
155957071CV2066323single nucleotide variantNM_005618.4(DLL1):c.1701C>T (p.Val567=)not provided [RCV002816574]likely benign6170283578170283578Humanname
156115043CV2093133single nucleotide variantNM_005618.4(DLL1):c.1620C>T (p.Gly540=)not provided [RCV002913933]benign6170283659170283659Humanname
155994346CV2095661single nucleotide variantNM_005618.4(DLL1):c.1329C>T (p.Asn443=)not provided [RCV002908311]likely benign6170283950170283950Humanname
156011189CV2100078single nucleotide variantNM_005618.4(DLL1):c.1116C>T (p.Asp372=)not provided [RCV002909118]likely benign6170285052170285052Humanname
156283856CV2104392single nucleotide variantNM_005618.4(DLL1):c.1260T>C (p.Cys420=)not provided [RCV002921879]likely benign6170284019170284019Humanname
156229367CV2111817single nucleotide variantNM_005618.4(DLL1):c.1383C>T (p.Gly461=)not provided [RCV002918873]likely benign6170283896170283896Humanname
156296436CV2119259single nucleotide variantNM_005618.4(DLL1):c.1515C>T (p.Cys505=)not provided [RCV002961939]likely benign6170283764170283764Humanname
155962913CV2132020single nucleotide variantNM_005618.4(DLL1):c.1533C>T (p.Tyr511=)not provided [RCV002995245]likely benign6170283746170283746Humanname
155988394CV2159914single nucleotide variantNM_005618.4(DLL1):c.237C>A (p.Tyr79Ter)not provided [RCV003034211]pathogenic6170289626170289626Humanname
156291132CV2182963single nucleotide variantNM_005618.4(DLL1):c.169C>T (p.Arg57Trp)not provided [RCV003027682]uncertain significance6170289694170289694Humanname
243052307CV2404355single nucleotide variantNM_005618.4(DLL1):c.1032G>A (p.Thr344=)not provided [RCV003129381]uncertain significance6170285254170285254Humanname
243057495CV2412096single nucleotide variantNM_005618.4(DLL1):c.218C>T (p.Pro73Leu)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146110]uncertain significance6170289645170289645Human1name
329951769CV2671430duplicationNM_005618.4(DLL1):c.838dup (p.Trp280fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003236640]likely pathogenic6170285592170285593Human1name
401870784CV2749415single nucleotide variantNM_005618.4(DLL1):c.204G>C (p.Gln68His)not provided [RCV003332543]uncertain significance6170289659170289659Humanname
401858514CV2750613duplicationNM_005618.4(DLL1):c.577dup (p.Arg193fs)not provided [RCV003334286]pathogenic6170288331170288332Humanname
401919730CV2794937single nucleotide variantNM_005618.4(DLL1):c.162C>A (p.Cys54Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003388683]pathogenic6170289701170289701Human1name
401908900CV2796931duplicationNM_005618.4(DLL1):c.453dup (p.His152fs)DLL1-related disorder [RCV003397689]likely pathogenic6170288455170288456Humanname , trait , alternate_id
401921083CV2828147single nucleotide variantNM_005618.4(DLL1):c.2031C>T (p.Thr677=)not provided [RCV003432180]likely benign6170283248170283248Humanname
401921085CV2828149single nucleotide variantNM_005618.4(DLL1):c.1950C>T (p.Asp650=)not provided [RCV003432181]likely benign6170283329170283329Humanname
401908682CV2828151single nucleotide variantNM_005618.4(DLL1):c.1362C>T (p.Asn454=)not provided [RCV003423485]likely benign6170283917170283917Humanname
404998103CV2849981single nucleotide variantNM_005618.4(DLL1):c.140G>A (p.Gly47Glu)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492990]uncertain significance6170289723170289723Human1name
402515953CV2856720single nucleotide variantNM_005618.4(DLL1):c.1530C>T (p.Gly510=)not provided [RCV003575489]likely benign6170283749170283749Humanname
402495877CV2883840single nucleotide variantNM_005618.4(DLL1):c.1929C>T (p.Leu643=)DLL1-related disorder [RCV003984387]|not provided [RCV003573493]likely benign6170283350170283350Human1name , trait , alternate_id
405129354CV2893295single nucleotide variantNM_005618.4(DLL1):c.1878C>T (p.Ser626=)DLL1-related disorder [RCV003929255]|not provided [RCV003559791]likely benign6170283401170283401Human1name , trait , alternate_id
402468269CV2911522single nucleotide variantNM_005618.4(DLL1):c.133T>C (p.Cys45Arg)not provided [RCV003569865]uncertain significance6170289730170289730Humanname
402483727CV2937640single nucleotide variantNM_005618.4(DLL1):c.2001C>T (p.Pro667=)not provided [RCV003659883]likely benign6170283278170283278Humanname
405136065CV2957862single nucleotide variantNM_005618.4(DLL1):c.1698G>A (p.Val566=)not provided [RCV003672658]likely benign6170283581170283581Humanname
402493951CV3004823single nucleotide variantNM_005618.4(DLL1):c.1053C>T (p.Ser351=)not provided [RCV003687812]likely benign6170285115170285115Humanname
405063541CV3020665single nucleotide variantNM_005618.4(DLL1):c.1590G>A (p.Val530=)not provided [RCV003697864]likely benign6170283689170283689Humanname
405202309CV3036264single nucleotide variantNM_005618.4(DLL1):c.1641C>G (p.Ala547=)not provided [RCV003707567]likely benign6170283638170283638Humanname
405251192CV3049773single nucleotide variantNM_005618.4(DLL1):c.1113G>A (p.Ala371=)not provided [RCV003721833]likely benign6170285055170285055Humanname
405254684CV3055298single nucleotide variantNM_005618.4(DLL1):c.1353G>T (p.Pro451=)not provided [RCV003722986]likely benign6170283926170283926Humanname
405164926CV3062772single nucleotide variantNM_005618.4(DLL1):c.2076G>T (p.Pro692=)not provided [RCV003727242]likely benign6170283078170283078Humanname
405228645CV3065717single nucleotide variantNM_005618.4(DLL1):c.103A>C (p.Lys35Gln)not provided [RCV003734410]uncertain significance6170289760170289760Humanname
405225764CV3068452single nucleotide variantNM_005618.4(DLL1):c.1584G>A (p.Ala528=)not provided [RCV003734016]likely benign6170283695170283695Humanname
405176588CV3119319single nucleotide variantNM_005618.4(DLL1):c.1659C>T (p.Ile553=)not provided [RCV003819604]likely benign6170283620170283620Humanname
405184064CV3124133single nucleotide variantNM_005618.4(DLL1):c.1353G>A (p.Pro451=)DLL1-related disorder [RCV003893447]|not provided [RCV003820331]likely benign6170283926170283926Human1name , trait , alternate_id
405198315CV3132153single nucleotide variantNM_005618.4(DLL1):c.2034G>A (p.Pro678=)not provided [RCV003821746]likely benign6170283245170283245Humanname
405218701CV3135744single nucleotide variantNM_005618.4(DLL1):c.1389C>T (p.Asn463=)not provided [RCV003824369]likely benign6170283890170283890Humanname
405197516CV3168276single nucleotide variantNM_005618.4(DLL1):c.1167C>T (p.Tyr389=)not provided [RCV003860408]likely benign6170285001170285001Humanname
405264876CV3190106single nucleotide variantNM_005618.4(DLL1):c.2001C>G (p.Pro667=)DLL1-related disorder [RCV003897145]likely benign6170283278170283278Humanname , trait , alternate_id
405286627CV3192257single nucleotide variantNM_005618.4(DLL1):c.1356C>T (p.Cys452=)DLL1-related disorder [RCV003924157]likely benign6170283923170283923Humanname , trait , alternate_id
405271320CV3202823single nucleotide variantNM_005618.4(DLL1):c.1107C>T (p.Thr369=)DLL1-related disorder [RCV003913887]likely benign6170285061170285061Humanname , trait , alternate_id
405295137CV3211080single nucleotide variantNM_005618.4(DLL1):c.1494G>A (p.Glu498=)DLL1-related disorder [RCV003937077]likely benign6170283785170283785Humanname , trait , alternate_id
407426430CV3411330single nucleotide variantNM_005618.4(DLL1):c.217C>G (p.Pro73Ala)not provided [RCV004590507]uncertain significance6170289646170289646Humanname
407475118CV3430677single nucleotide variantNM_005618.4(DLL1):c.110G>C (p.Gly37Ala)Inborn genetic diseases [RCV004616608]uncertain significance6170289753170289753Human1name
596925104CV3541827deletionNM_005618.4(DLL1):c.883del (p.His295fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004795539]pathogenic6170285403170285403Human1name
596945793CV3548068single nucleotide variantNM_005618.4(DLL1):c.1062C>T (p.Cys354=)not provided [RCV004809399]likely benign6170285106170285106Humanname
597886289CV3741807single nucleotide variantNM_005618.4(DLL1):c.1173C>T (p.Cys391=)not provided [RCV005070526]likely benign6170284995170284995Humanname
597969049CV3761321single nucleotide variantNM_005618.4(DLL1):c.2007C>T (p.Gly669=)not provided [RCV005083708]likely benign6170283272170283272Humanname
597882691CV3763989single nucleotide variantNM_005618.4(DLL1):c.1761G>A (p.Thr587=)not provided [RCV005109390]likely benign6170283518170283518Humanname
597940773CV3769004single nucleotide variantNM_005618.4(DLL1):c.238G>C (p.Gly80Arg)not provided [RCV005118499]uncertain significance6170289625170289625Humanname
597922379CV3775689duplicationNM_005618.4(DLL1):c.702dup (p.Gly235fs)not provided [RCV005115404]pathogenic6170286266170286267Humanname
597942909CV3786332single nucleotide variantNM_005618.4(DLL1):c.1317C>T (p.His439=)not provided [RCV005134023]likely benign6170283962170283962Humanname
597958293CV3800984single nucleotide variantNM_005618.4(DLL1):c.1491C>T (p.His497=)not provided [RCV005137864]likely benign6170283788170283788Humanname
597972414CV3812960single nucleotide variantNM_005618.4(DLL1):c.2163T>C (p.Thr721=)not provided [RCV005167413]likely benign6170282991170282991Humanname
597949484CV3818573single nucleotide variantNM_005618.4(DLL1):c.1509T>C (p.Tyr503=)not provided [RCV005160834]likely benign6170283770170283770Humanname
597839832CV3824965single nucleotide variantNM_005618.4(DLL1):c.1197C>T (p.Gly399=)not provided [RCV005171829]likely benign6170284971170284971Humanname
597963459CV3841536single nucleotide variantNM_005618.4(DLL1):c.2154C>T (p.Val718=)not provided [RCV005193640]likely benign6170283000170283000Humanname
598125392CV3883974single nucleotide variantNM_005618.4(DLL1):c.173C>T (p.Thr58Ile)not provided [RCV005236329]uncertain significance6170289690170289690Humanname
617151359CV4017829single nucleotide variantNM_005618.4(DLL1):c.188G>A (p.Cys63Tyr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005417617]uncertain significance6170289675170289675Human1name
617152102CV4018295single nucleotide variantNM_005618.4(DLL1):c.146C>T (p.Ala49Val)not specified [RCV005418555]uncertain significance6170289717170289717Humanname
15201357CV699458single nucleotide variantNM_005618.4(DLL1):c.2133C>T (p.Ser711=)not provided [RCV000957598]benign|likely benign6170283021170283021Humanname
15191960CV699460single nucleotide variantNM_005618.4(DLL1):c.1335C>T (p.Asp445=)not provided [RCV000954929]likely benign6170283944170283944Humanname
15104341CV699462single nucleotide variantNM_005618.4(DLL1):c.1017C>T (p.Asn339=)not provided [RCV000959665]benign|likely benign6170285269170285269Humanname
15124638CV710343single nucleotide variantNM_005618.4(DLL1):c.1518G>A (p.Glu506=)not provided [RCV000963449]benign|likely benign6170283761170283761Humanname
15176671CV721889single nucleotide variantNM_005618.4(DLL1):c.2076G>A (p.Pro692=)DLL1-related disorder [RCV003910449]|not provided [RCV000884635]benign|likely benign6170283078170283078Human1name , trait , alternate_id
15178016CV721890single nucleotide variantNM_005618.4(DLL1):c.1968C>T (p.Asp656=)not provided [RCV000884961]likely benign6170283311170283311Humanname
15102957CV721891single nucleotide variantNM_005618.4(DLL1):c.1563C>T (p.Pro521=)not provided [RCV000892580]benign|likely benign6170283716170283716Humanname
15107019CV721892single nucleotide variantNM_005618.4(DLL1):c.1455C>T (p.Cys485=)not provided [RCV000893394]likely benign6170283824170283824Humanname
15183386CV735537single nucleotide variantNM_005618.4(DLL1):c.2124C>T (p.Tyr708=)not provided [RCV000908047]likely benign6170283030170283030Humanname
15183971CV735538single nucleotide variantNM_005618.4(DLL1):c.1959C>T (p.Ala653=)not provided [RCV000908174]likely benign6170283320170283320Humanname
15119210CV735539single nucleotide variantNM_005618.4(DLL1):c.1866C>T (p.His622=)DLL1-related disorder [RCV003910669]|not provided [RCV000895683]likely benign6170283413170283413Human1name , trait , alternate_id
15135647CV735540single nucleotide variantNM_005618.4(DLL1):c.1830G>A (p.Thr610=)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003243367]|not provided [RCV000898495]likely benign6170283449170283449Human1name
15181568CV735541single nucleotide variantNM_005618.4(DLL1):c.1689C>T (p.Ala563=)not provided [RCV000907609]likely benign6170283590170283590Humanname
15144540CV735542single nucleotide variantNM_005618.4(DLL1):c.1650C>T (p.Ala550=)not provided [RCV000900019]benign|likely benign6170283629170283629Humanname
15153672CV735543single nucleotide variantNM_005618.4(DLL1):c.1461C>T (p.His487=)not provided [RCV000901806]likely benign6170283818170283818Humanname
15138681CV735544single nucleotide variantNM_005618.4(DLL1):c.1443C>T (p.Pro481=)not provided [RCV000899024]benign6170283836170283836Humanname
15156197CV735545single nucleotide variantNM_005618.4(DLL1):c.1341C>T (p.Cys447=)not provided [RCV000902285]likely benign6170283938170283938Humanname
15119355CV735546single nucleotide variantNM_005618.4(DLL1):c.1194C>T (p.Ser398=)not provided [RCV000895711]benign|likely benign6170284974170284974Humanname
15161811CV735547single nucleotide variantNM_005618.4(DLL1):c.1068C>T (p.Pro356=)not provided [RCV000903422]likely benign6170285100170285100Humanname
15147178CV749981single nucleotide variantNM_005618.4(DLL1):c.2082G>C (p.Ser694=)not provided [RCV000922855]likely benign6170283072170283072Humanname
15101164CV749982single nucleotide variantNM_005618.4(DLL1):c.1881C>T (p.Ala627=)DLL1-related disorder [RCV003895559]|Inborn genetic diseases [RCV004973163]|not provided [RCV000914731]likely benign6170283398170283398Human2name , trait , alternate_id
15098738CV749983single nucleotide variantNM_005618.4(DLL1):c.1854G>A (p.Lys618=)not provided [RCV000914319]likely benign6170283425170283425Humanname
15099845CV749984single nucleotide variantNM_005618.4(DLL1):c.1833G>A (p.Gln611=)not provided [RCV000914517]benign|likely benign6170283446170283446Humanname
15152519CV749985single nucleotide variantNM_005618.4(DLL1):c.1599T>G (p.Thr533=)not provided [RCV000923888]likely benign6170283680170283680Humanname
15168609CV749986single nucleotide variantNM_005618.4(DLL1):c.1269C>T (p.Leu423=)not provided [RCV000927327]likely benign6170284010170284010Humanname
15102123CV749987single nucleotide variantNM_005618.4(DLL1):c.1131C>T (p.Asn377=)not provided [RCV000914910]benign6170285037170285037Humanname
15172283CV765592single nucleotide variantNM_005618.4(DLL1):c.2031C>A (p.Thr677=)DLL1-related disorder [RCV003903071]|not provided [RCV000928080]likely benign6170283248170283248Human1name , trait , alternate_id
15113494CV765593single nucleotide variantNM_005618.4(DLL1):c.1995C>T (p.Cys665=)not provided [RCV000939138]likely benign6170283284170283284Humanname
15109707CV782496single nucleotide variantNM_005618.4(DLL1):c.1050C>T (p.Tyr350=)not provided [RCV000977291]likely benign6170285118170285118Humanname
15173960CV789162single nucleotide variantNM_005618.4(DLL1):c.231C>A (p.Cys77Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984541]pathogenic6170289632170289632Human1name
40886648CV973529deletionNM_005618.4(DLL1):c.601del (p.His201fs)Inborn genetic diseases [RCV001265839]pathogenic6170288308170288308Human1name
40889848CV975189duplicationNM_005618.4(DLL1):c.625dup (p.Glu209fs)not provided [RCV001268334]likely pathogenic6170288283170288284Humanname
127267061CV1060641deletionNM_005618.4(DLL1):c.1616del (p.Gln539fs)not provided [RCV001388872]pathogenic6170283663170283663Humanname
127286211CV1161802single nucleotide variantNM_005618.4(DLL1):c.553G>T (p.Gly185Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003154187]likely pathogenic|uncertain significance6170288356170288356Human1name
150417450CV1197506single nucleotide variantNM_005618.4(DLL1):c.303C>A (p.Asp101Glu)DLL1-related disorder [RCV003980715]|not provided [RCV001576303]likely benign|conflicting interpretations of pathogenicity|uncertain significance6170289560170289560Human1name , trait , alternate_id
150549501CV1295283single nucleotide variantNM_005618.4(DLL1):c.598G>C (p.Gly200Arg)not provided [RCV001765183]uncertain significance6170288311170288311Humanname
150553569CV1303578single nucleotide variantNM_005618.4(DLL1):c.941G>T (p.Cys314Phe)not provided [RCV001769268]uncertain significance6170285345170285345Humanname
151352265CV1322351single nucleotide variantNM_005618.4(DLL1):c.349C>T (p.Pro117Ser)not provided [RCV001806975]uncertain significance6170289514170289514Humanname
151349706CV1325452duplicationNM_005618.4(DLL1):c.1574dup (p.Ala528fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001814738]likely pathogenic6170283704170283705Human1name
151819386CV1378221single nucleotide variantNM_005618.4(DLL1):c.639C>A (p.Asn213Lys)not provided [RCV002029738]uncertain significance6170288270170288270Humanname
152085952CV1531625single nucleotide variantNM_005618.4(DLL1):c.991G>A (p.Glu331Lys)DLL1-related disorder [RCV004746596]|not provided [RCV002076984]likely benign6170285295170285295Human1name , trait , alternate_id
152095007CV1533916single nucleotide variantNM_005618.4(DLL1):c.613G>A (p.Gly205Arg)DLL1-related disorder [RCV003971102]|not provided [RCV002151088]benign|likely benign6170288296170288296Human1name , trait , alternate_id
152047788CV1569541single nucleotide variantNM_005618.4(DLL1):c.670C>T (p.Pro224Ser)not provided [RCV002126852]likely benign6170288239170288239Humanname
153349189CV1694040single nucleotide variantNM_005618.4(DLL1):c.406G>A (p.Ala136Thr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002275581]|not provided [RCV003096220]likely benign|uncertain significance6170288735170288735Human1name
155641684CV1707099single nucleotide variantNM_005618.4(DLL1):c.965G>T (p.Gly322Val)not provided [RCV002288029]uncertain significance6170285321170285321Humanname
155803756CV1858322single nucleotide variantNM_005618.4(DLL1):c.583C>T (p.Arg195Trp)not provided [RCV002462631]uncertain significance6170288326170288326Humanname
155798108CV1859591duplicationNM_005618.4(DLL1):c.1538dup (p.Pro514fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002465385]pathogenic6170283740170283741Human1name
155797183CV1860217single nucleotide variantNM_005618.4(DLL1):c.974G>A (p.Cys325Tyr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002466858]uncertain significance6170285312170285312Human1name
155797315CV1860331single nucleotide variantNM_005618.4(DLL1):c.905C>T (p.Ala302Val)not provided [RCV002466973]uncertain significance6170285381170285381Humanname
155797499CV1863356single nucleotide variantNM_005618.4(DLL1):c.614G>C (p.Gly205Ala)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002470631]|not provided [RCV003775524]uncertain significance6170288295170288295Human1name
155800453CV1863602single nucleotide variantNM_005618.4(DLL1):c.860A>G (p.Gln287Arg)not provided [RCV002474025]uncertain significance6170285571170285571Humanname
156319313CV1876299single nucleotide variantNM_005618.4(DLL1):c.755G>A (p.Arg252Gln)Inborn genetic diseases [RCV003062956]|not provided [RCV003062955]uncertain significance6170285676170285676Human1name
156237661CV1882222single nucleotide variantNM_005618.4(DLL1):c.950G>A (p.Arg317Gln)not provided [RCV003085625]benign6170285336170285336Humanname
156026977CV1913864single nucleotide variantNM_005618.4(DLL1):c.766G>C (p.Glu256Gln)Inborn genetic diseases [RCV003274272]|not provided [RCV002619676]likely benign|uncertain significance6170285665170285665Human1name
156054518CV1935065single nucleotide variantNM_005618.4(DLL1):c.515A>G (p.Lys172Arg)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005406477]|not provided [RCV003434495]|not specified [RCV002510352]likely pathogenic|uncertain significance6170288394170288394Human1name
156067973CV1975523single nucleotide variantNM_005618.4(DLL1):c.900T>G (p.Asn300Lys)Inborn genetic diseases [RCV003348868]|not provided [RCV002591187]likely benign|uncertain significance6170285386170285386Human1name
156237974CV1992425single nucleotide variantNM_005618.4(DLL1):c.307G>A (p.Ala103Thr)not provided [RCV002627035]uncertain significance6170289556170289556Humanname
156117276CV2015746single nucleotide variantNM_005618.4(DLL1):c.503G>A (p.Arg168His)Inborn genetic diseases [RCV004973571]|not provided [RCV002695897]uncertain significance6170288406170288406Human1name
156245273CV2053297single nucleotide variantNM_005618.4(DLL1):c.626A>G (p.Glu209Gly)not provided [RCV002791499]uncertain significance6170288283170288283Humanname
155940261CV2142874single nucleotide variantNM_005618.4(DLL1):c.961A>T (p.Thr321Ser)Inborn genetic diseases [RCV003170813]|not provided [RCV002994006]likely benign|uncertain significance6170285325170285325Human1name
156255654CV2194518single nucleotide variantNM_005618.4(DLL1):c.452G>A (p.Arg151Lys)Inborn genetic diseases [RCV002668649]uncertain significance6170288457170288457Human1name
156126424CV2234360single nucleotide variantNM_005618.4(DLL1):c.671C>T (p.Pro224Leu)Inborn genetic diseases [RCV002762642]uncertain significance6170286298170286298Human1name
156142758CV2257406single nucleotide variantNM_005618.4(DLL1):c.772A>G (p.Ile258Val)Inborn genetic diseases [RCV002826304]uncertain significance6170285659170285659Human1name
156063076CV2277335single nucleotide variantNM_005618.4(DLL1):c.830A>G (p.Gln277Arg)Inborn genetic diseases [RCV002868268]|not provided [RCV003225258]uncertain significance6170285601170285601Human1name
156285315CV2291974single nucleotide variantNM_005618.4(DLL1):c.473A>C (p.Glu158Ala)Inborn genetic diseases [RCV002896775]uncertain significance6170288436170288436Human1name
243062482CV2404927single nucleotide variantNM_005618.4(DLL1):c.506C>T (p.Thr169Met)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003140477]|not provided [RCV005060949]uncertain significance6170288403170288403Human1name
243050803CV2415585single nucleotide variantNM_005618.4(DLL1):c.788G>A (p.Cys263Tyr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003148185]uncertain significance6170285643170285643Human1name
243049707CV2417067deletionNM_005618.4(DLL1):c.1013del (p.Lys338fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003151937]likely pathogenic6170285273170285273Human1name
329395058CV2473015single nucleotide variantNM_005618.4(DLL1):c.556G>A (p.Glu186Lys)not provided [RCV003218998]uncertain significance6170288353170288353Humanname
329395124CV2473032single nucleotide variantNM_005618.4(DLL1):c.479C>G (p.Ser160Cys)not provided [RCV003219016]uncertain significance6170288430170288430Humanname
329351099CV2477928single nucleotide variantNM_005618.4(DLL1):c.526C>T (p.Arg176Cys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003989826]|not provided [RCV003224041]uncertain significance6170288383170288383Human1name
329953023CV2669732single nucleotide variantNM_005618.4(DLL1):c.527G>T (p.Arg176Leu)not provided [RCV003234356]uncertain significance6170288382170288382Humanname
401724698CV2672302single nucleotide variantNM_005618.4(DLL1):c.821G>C (p.Cys274Ser)not provided [RCV003239203]uncertain significance6170285610170285610Humanname
401720420CV2737240deletionNM_005618.4(DLL1):c.1443del (p.Val482fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003314179]likely pathogenic6170283836170283836Human1name
401829815CV2744013deletionNM_005618.4(DLL1):c.1775del (p.Asn592fs)not provided [RCV003327178]pathogenic6170283504170283504Humanname
401875462CV2749991single nucleotide variantNM_005618.4(DLL1):c.541G>A (p.Glu181Lys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003333405]uncertain significance6170288368170288368Human1name
401860214CV2751938deletionNM_005618.4(DLL1):c.1903del (p.Arg635fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003335821]likely pathogenic6170283376170283376Human1name
401887123CV2775629single nucleotide variantNM_005618.4(DLL1):c.998A>T (p.Asp333Val)Inborn genetic diseases [RCV003352212]uncertain significance6170285288170285288Human1name
401909150CV2803844single nucleotide variantNM_005618.4(DLL1):c.782C>T (p.Pro261Leu)DLL1-related disorder [RCV003397783]uncertain significance6170285649170285649Humanname , trait , alternate_id
401921088CV2828153single nucleotide variantNM_005618.4(DLL1):c.844G>T (p.Gly282Cys)not provided [RCV003432183]uncertain significance6170285587170285587Humanname
401914877CV2830872single nucleotide variantNM_005618.4(DLL1):c.757T>C (p.Tyr253His)not provided [RCV003442611]uncertain significance6170285674170285674Humanname
405076613CV2869542single nucleotide variantNM_005618.4(DLL1):c.403C>T (p.Leu135Phe)not provided [RCV003548852]uncertain significance6170288738170288738Humanname
402497362CV2871606single nucleotide variantNM_005618.4(DLL1):c.932G>A (p.Ser311Asn)not provided [RCV003545554]uncertain significance6170285354170285354Humanname
405011836CV2923354single nucleotide variantNM_005618.4(DLL1):c.776G>T (p.Arg259Leu)not provided [RCV003576675]uncertain significance6170285655170285655Humanname
405241160CV2970678single nucleotide variantNM_005618.4(DLL1):c.619C>A (p.Arg207Ser)Inborn genetic diseases [RCV004980907]|not provided [RCV003684073]uncertain significance6170288290170288290Human1name
405212188CV2974463single nucleotide variantNM_005618.4(DLL1):c.497G>T (p.Ser166Ile)not provided [RCV003679556]uncertain significance6170288412170288412Humanname
405036128CV3016759single nucleotide variantNM_005618.4(DLL1):c.336C>G (p.Phe112Leu)not provided [RCV003695958]uncertain significance6170289527170289527Humanname
405123596CV3021048single nucleotide variantNM_005618.4(DLL1):c.718C>A (p.Pro240Thr)not provided [RCV003701016]uncertain significance6170286251170286251Humanname
405220134CV3032068single nucleotide variantNM_005618.4(DLL1):c.734G>A (p.Cys245Tyr)not provided [RCV003709846]uncertain significance6170285697170285697Humanname
405073129CV3034550single nucleotide variantNM_005618.4(DLL1):c.461C>T (p.Thr154Met)not provided [RCV003698438]uncertain significance6170288448170288448Humanname
405250671CV3053036single nucleotide variantNM_005618.4(DLL1):c.343A>T (p.Thr115Ser)not provided [RCV003721686]uncertain significance6170289520170289520Humanname
405254207CV3055120single nucleotide variantNM_005618.4(DLL1):c.587A>G (p.Asp196Gly)not provided [RCV003722901]uncertain significance6170288322170288322Humanname
405215302CV3066523single nucleotide variantNM_005618.4(DLL1):c.949C>T (p.Arg317Trp)not provided [RCV003732495]uncertain significance6170285337170285337Humanname
405200612CV3066766single nucleotide variantNM_005618.4(DLL1):c.607A>G (p.Thr203Ala)not provided [RCV003730737]uncertain significance6170288302170288302Humanname
405229214CV3075503single nucleotide variantNM_005618.4(DLL1):c.766G>A (p.Glu256Lys)not provided [RCV003734602]uncertain significance6170285665170285665Humanname
404983682CV3121634single nucleotide variantNM_005618.4(DLL1):c.674T>C (p.Ile225Thr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005419718]|not provided [RCV003826433]uncertain significance6170286295170286295Human1name
405035898CV3140440single nucleotide variantNM_005618.4(DLL1):c.691G>A (p.Asp231Asn)not provided [RCV003830922]uncertain significance6170286278170286278Humanname
405173481CV3151811single nucleotide variantNM_005618.4(DLL1):c.395C>T (p.Pro132Leu)not provided [RCV003857962]uncertain significance6170288746170288746Humanname
405267313CV3186808single nucleotide variantNM_005618.4(DLL1):c.400G>A (p.Asp134Asn)not provided [RCV003886889]likely benign6170288741170288741Humanname
405262431CV3200281single nucleotide variantNM_005618.4(DLL1):c.975C>A (p.Cys325Ter)DLL1-related disorder [RCV003967302]likely pathogenic6170285311170285311Humanname , trait , alternate_id
405708136CV3240467single nucleotide variantNM_005618.4(DLL1):c.461C>G (p.Thr154Arg)Inborn genetic diseases [RCV004376223]uncertain significance6170288448170288448Human1name
405708151CV3240469single nucleotide variantNM_005618.4(DLL1):c.588C>G (p.Asp196Glu)Inborn genetic diseases [RCV004376225]uncertain significance6170288321170288321Human1name
405708155CV3240470single nucleotide variantNM_005618.4(DLL1):c.632T>C (p.Val211Ala)Inborn genetic diseases [RCV004376226]uncertain significance6170288277170288277Human1name
405708165CV3240471single nucleotide variantNM_005618.4(DLL1):c.807G>C (p.Gln269His)Inborn genetic diseases [RCV004376227]likely benign6170285624170285624Human1name
405708170CV3240472single nucleotide variantNM_005618.4(DLL1):c.985A>G (p.Ile329Val)Inborn genetic diseases [RCV004376228]likely benign6170285301170285301Human1name
407427722CV3412021single nucleotide variantNM_005618.4(DLL1):c.889C>T (p.Pro297Ser)not provided [RCV004592192]uncertain significance6170285397170285397Humanname
407428952CV3413339single nucleotide variantNM_005618.4(DLL1):c.611G>A (p.Cys204Tyr)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004594745]likely pathogenic6170288298170288298Human1name
408370013CV3502976single nucleotide variantNM_005618.4(DLL1):c.959A>G (p.Tyr320Cys)not provided [RCV004724097]uncertain significance6170285327170285327Humanname
408394421CV3518223single nucleotide variantNM_005618.4(DLL1):c.552C>G (p.Tyr184Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004759546]pathogenic6170288357170288357Human1name
408388484CV3520758single nucleotide variantNM_005618.4(DLL1):c.577C>T (p.Arg193Cys)not provided [RCV004761591]uncertain significance6170288332170288332Humanname
408393403CV3525511deletionNM_005618.4(DLL1):c.1480del (p.Ala494fs)not provided [RCV004771397]pathogenic6170283799170283799Humanname
408385659CV3528617single nucleotide variantNM_005618.4(DLL1):c.350C>A (p.Pro117Gln)not provided [RCV004772450]uncertain significance6170289513170289513Humanname
596926037CV3530674single nucleotide variantNM_005618.4(DLL1):c.754C>G (p.Arg252Gly)not provided [RCV004778259]uncertain significance6170285677170285677Humanname
596930155CV3531393single nucleotide variantNM_005618.4(DLL1):c.797G>A (p.Gly266Asp)not provided [RCV004779967]uncertain significance6170285634170285634Humanname
596927779CV3541226single nucleotide variantNM_005618.4(DLL1):c.845G>T (p.Gly282Val)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004797097]uncertain significance6170285586170285586Human1name
596943643CV3542928single nucleotide variantNM_005618.4(DLL1):c.648G>C (p.Trp216Cys)not provided [RCV004798513]uncertain significance6170288261170288261Humanname
597658083CV3731750single nucleotide variantNM_005618.4(DLL1):c.482A>T (p.Gln161Leu)not provided [RCV005001931]uncertain significance6170288427170288427Humanname
597831422CV3735062single nucleotide variantNM_005618.4(DLL1):c.821G>A (p.Cys274Tyr)not provided [RCV005054795]uncertain significance6170285610170285610Humanname
597940303CV3788587deletionNM_005618.4(DLL1):c.2002del (p.Gln668fs)not provided [RCV005133262]uncertain significance6170283277170283277Humanname
597909212CV3806338single nucleotide variantNM_005618.4(DLL1):c.308C>T (p.Ala103Val)not provided [RCV005153905]uncertain significance6170289555170289555Humanname
597936118CV3863713single nucleotide variantNM_005618.4(DLL1):c.978G>T (p.Glu326Asp)not provided [RCV005207526]uncertain significance6170285308170285308Humanname
598231252CV3886439single nucleotide variantNM_005618.4(DLL1):c.839G>A (p.Trp280Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005255883]likely pathogenic6170285592170285592Human1name
598184443CV3960270single nucleotide variantNM_005618.4(DLL1):c.331C>T (p.Pro111Ser)Inborn genetic diseases [RCV005333680]uncertain significance6170289532170289532Human1name
598184459CV3960273single nucleotide variantNM_005618.4(DLL1):c.343A>G (p.Thr115Ala)Inborn genetic diseases [RCV005333683]uncertain significance6170289520170289520Human1name
598184464CV3960274single nucleotide variantNM_005618.4(DLL1):c.775C>T (p.Arg259Cys)Inborn genetic diseases [RCV005333684]uncertain significance6170285656170285656Human1name
40887052CV973528single nucleotide variantNM_005618.4(DLL1):c.769T>G (p.Cys257Gly)Inborn genetic diseases [RCV001266441]uncertain significance6170285662170285662Human1name
150479994CV1207930single nucleotide variantNM_005618.4(DLL1):c.1981C>T (p.Arg661Cys)DLL1-related disorder [RCV003941039]|not provided [RCV001590206]benign|conflicting interpretations of pathogenicity|uncertain significance6170283298170283298Human1name , trait , alternate_id
150516802CV1288127single nucleotide variantNM_005618.4(DLL1):c.1964G>A (p.Arg655Lys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001723523]uncertain significance6170283315170283315Human1name
150547466CV1303668single nucleotide variantNM_005618.4(DLL1):c.1267C>G (p.Leu423Val)not provided [RCV001763771]uncertain significance6170284012170284012Humanname
150556605CV1305516single nucleotide variantNM_005618.4(DLL1):c.1729C>T (p.Arg577Trp)Inborn genetic diseases [RCV003163888]|not provided [RCV001774505]likely benign|uncertain significance6170283550170283550Human1name
150545649CV1315822single nucleotide variantNM_005618.4(DLL1):c.1343C>T (p.Ala448Val)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001784153]|not provided [RCV003772167]uncertain significance6170283936170283936Human1name
151236143CV1319574single nucleotide variantNM_005618.4(DLL1):c.1778T>G (p.Leu593Arg)not provided [RCV001797519]uncertain significance6170283501170283501Humanname
151353485CV1326626single nucleotide variantNM_005618.4(DLL1):c.1558C>T (p.Leu520Phe)not provided [RCV001816451]uncertain significance6170283721170283721Humanname
151809179CV1337329single nucleotide variantNM_005618.4(DLL1):c.1462G>A (p.Ala488Thr)not provided [RCV002028802]conflicting interpretations of pathogenicity|uncertain significance6170283817170283817Humanname
151892240CV1337488single nucleotide variantNM_005618.4(DLL1):c.1375C>T (p.Arg459Trp)Inborn genetic diseases [RCV002558431]|not provided [RCV001943907]uncertain significance6170283904170283904Human1name
151815885CV1344344single nucleotide variantNM_005618.4(DLL1):c.1648G>A (p.Ala550Thr)Inborn genetic diseases [RCV003247149]|not provided [RCV001919075]uncertain significance6170283631170283631Human1name
151882106CV1364067single nucleotide variantNM_005618.4(DLL1):c.1647C>A (p.Cys549Ter)not provided [RCV001999761]pathogenic6170283632170283632Humanname
151717583CV1380503single nucleotide variantNM_005618.4(DLL1):c.1300G>A (p.Gly434Ser)Inborn genetic diseases [RCV002579590]|not provided [RCV002003152]|not specified [RCV004526168]uncertain significance6170283979170283979Human1name
151775189CV1402514single nucleotide variantNM_005618.4(DLL1):c.1873C>A (p.His625Asn)not provided [RCV001929909]conflicting interpretations of pathogenicity|uncertain significance6170283406170283406Humanname
151709957CV1433466single nucleotide variantNM_005618.4(DLL1):c.1597A>G (p.Thr533Ala)not provided [RCV002001750]uncertain significance6170283682170283682Humanname
151718399CV1469323single nucleotide variantNM_005618.4(DLL1):c.1570C>T (p.Pro524Ser)Inborn genetic diseases [RCV004038867]|not provided [RCV002039689]likely benign|uncertain significance6170283709170283709Human1name
151751802CV1473570single nucleotide variantNM_005618.4(DLL1):c.1018G>A (p.Gly340Arg)Inborn genetic diseases [RCV002547979]|not provided [RCV001872324]uncertain significance6170285268170285268Human1name
151816656CV1485743single nucleotide variantNM_005618.4(DLL1):c.1289G>A (p.Arg430His)Inborn genetic diseases [RCV002548804]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002486718]|not provided [RCV002029488]uncertain significance6170283990170283990Human2name
151723604CV1495328single nucleotide variantNM_005618.4(DLL1):c.1174C>T (p.Arg392Cys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002266082]|not provided [RCV001983406]uncertain significance6170284994170284994Human1name
151880944CV1499661single nucleotide variantNM_005618.4(DLL1):c.1723A>G (p.Lys575Glu)not provided [RCV001886469]uncertain significance6170283556170283556Humanname
151719916CV1500376single nucleotide variantNM_005618.4(DLL1):c.1098T>G (p.Ser366Arg)not provided [RCV001909566]uncertain significance6170285070170285070Humanname
152143612CV1538430single nucleotide variantNM_005618.4(DLL1):c.1829C>T (p.Thr610Met)DLL1-related disorder [RCV004747032]|not provided [RCV002219702]likely benign6170283450170283450Human1name , trait , alternate_id
152067837CV1566962single nucleotide variantNM_005618.4(DLL1):c.1516G>A (p.Glu506Lys)DLL1-related disorder [RCV003913640]|not provided [RCV002091170]benign|likely benign6170283763170283763Human1name , trait , alternate_id
152113588CV1639390single nucleotide variantNM_005618.4(DLL1):c.2081C>T (p.Ser694Leu)not provided [RCV002197105]likely benign6170283073170283073Humanname
152103359CV1667434single nucleotide variantNM_005618.4(DLL1):c.1822G>A (p.Gly608Arg)not provided [RCV002214421]|not specified [RCV003987986]uncertain significance6170283457170283457Humanname
152978346CV1671537single nucleotide variantNM_005618.4(DLL1):c.2075C>T (p.Pro692Leu)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002227642]|not provided [RCV003434455]likely benign|conflicting interpretations of pathogenicity|uncertain significance6170283079170283079Human1name
152978544CV1671710single nucleotide variantNM_005618.4(DLL1):c.1551G>C (p.Gln517His)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002227815]|not provided [RCV003458134]uncertain significance6170283728170283728Human1name
152979441CV1675561single nucleotide variantNM_005618.4(DLL1):c.1903C>T (p.Arg635Cys)Inborn genetic diseases [RCV003093939]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002244151]|not provided [RCV003093938]uncertain significance6170283376170283376Human2name
153301108CV1688953single nucleotide variantNM_005618.4(DLL1):c.1384G>A (p.Val462Met)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002266681]|not provided [RCV003718466]uncertain significance6170283895170283895Human1name
153347885CV1694934single nucleotide variantNM_005618.4(DLL1):c.1300G>T (p.Gly434Cys)not provided [RCV002278864]uncertain significance6170283979170283979Humanname
155267007CV1699383single nucleotide variantNM_005618.4(DLL1):c.2008T>C (p.Ser670Pro)not provided [RCV002283178]uncertain significance6170283271170283271Humanname
155644132CV1706921single nucleotide variantNM_005618.4(DLL1):c.1366G>A (p.Gly456Ser)not provided [RCV002290875]uncertain significance6170283913170283913Humanname
9686954CV171413single nucleotide variantNM_005618.4(DLL1):c.1711C>A (p.Leu571Met)Prostate cancer [RCV000149173]uncertain significance6170283568170283568Human2name
155664667CV1773270single nucleotide variantNM_005618.4(DLL1):c.1682G>C (p.Gly561Ala)not provided [RCV002296982]uncertain significance6170283597170283597Humanname
155749983CV1774779single nucleotide variantNM_005618.4(DLL1):c.2074C>G (p.Pro692Ala)not provided [RCV002305228]uncertain significance6170283080170283080Humanname
155700131CV1776095single nucleotide variantNM_005618.4(DLL1):c.2116T>C (p.Ser706Pro)not provided [RCV002299916]uncertain significance6170283038170283038Humanname
155741288CV1779920single nucleotide variantNM_005618.4(DLL1):c.1085T>G (p.Ile362Ser)not specified [RCV002302524]uncertain significance6170285083170285083Humanname
155800552CV1863679single nucleotide variantNM_005618.4(DLL1):c.1968C>G (p.Asp656Glu)not provided [RCV002474102]uncertain significance6170283311170283311Humanname
156392843CV1869734single nucleotide variantNM_005618.4(DLL1):c.1760C>T (p.Thr587Met)DLL1-related disorder [RCV003404042]|Inborn genetic diseases [RCV003051515]|not provided [RCV003051516]likely benign|uncertain significance6170283519170283519Human2name , trait , alternate_id
155984608CV1883879single nucleotide variantNM_005618.4(DLL1):c.1957G>A (p.Ala653Thr)Inborn genetic diseases [RCV003075825]|not provided [RCV003086139]likely benign|uncertain significance6170283322170283322Human1name
156149428CV1895862single nucleotide variantNM_005618.4(DLL1):c.1093T>A (p.Leu365Met)not provided [RCV003082498]likely benign6170285075170285075Humanname
156276354CV1900258single nucleotide variantNM_005618.4(DLL1):c.1526G>A (p.Arg509Gln)not provided [RCV003086964]uncertain significance6170283753170283753Humanname
155954619CV1906994single nucleotide variantNM_005618.4(DLL1):c.1879G>A (p.Ala627Thr)not provided [RCV003095514]uncertain significance6170283400170283400Humanname
156323365CV1908315single nucleotide variantNM_005618.4(DLL1):c.1409C>T (p.Pro470Leu)not provided [RCV002579394]likely benign6170283870170283870Humanname
156356768CV1917683single nucleotide variantNM_005618.4(DLL1):c.1867G>A (p.Gly623Arg)Inborn genetic diseases [RCV005333526]|not provided [RCV002632393]uncertain significance6170283412170283412Human1name
155948950CV1921807single nucleotide variantNM_005618.4(DLL1):c.1912G>A (p.Ala638Thr)not provided [RCV002616110]likely benign6170283367170283367Humanname
156295907CV1923158single nucleotide variantNM_005618.4(DLL1):c.1762G>A (p.Glu588Lys)Inborn genetic diseases [RCV004978710]|not provided [RCV002647402]likely benign|uncertain significance6170283517170283517Human1name
156444311CV1938165single nucleotide variantNM_005618.4(DLL1):c.1454G>A (p.Cys485Tyr)not provided [RCV003115234]uncertain significance6170283825170283825Humanname
156447033CV1944666single nucleotide variantNM_005618.4(DLL1):c.1730G>A (p.Arg577Gln)not provided [RCV003118559]uncertain significance6170283549170283549Humanname
156446961CV1948654single nucleotide variantNM_005618.4(DLL1):c.2125G>A (p.Val709Ile)DLL1-related disorder [RCV003973762]|not provided [RCV003118484]likely benign6170283029170283029Human1name , trait , alternate_id
156352600CV1965569single nucleotide variantNM_005618.4(DLL1):c.1112C>T (p.Ala371Val)See cases [RCV003128458]|not provided [RCV002581168]uncertain significance6170285056170285056Humanname
155907862CV1979882single nucleotide variantNM_005618.4(DLL1):c.1642G>A (p.Val548Met)Inborn genetic diseases [RCV004973512]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146592]|not provided [RCV002613778]uncertain significance6170283637170283637Human2name
155908506CV1979939single nucleotide variantNM_005618.4(DLL1):c.1588G>A (p.Val530Met)not provided [RCV002613818]uncertain significance6170283691170283691Humanname
156000326CV1987131single nucleotide variantNM_005618.4(DLL1):c.1099G>A (p.Ala367Thr)Inborn genetic diseases [RCV002618415]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146595]|not provided [RCV002618414]uncertain significance6170285069170285069Human2name
155992605CV1990578single nucleotide variantNM_005618.4(DLL1):c.2022G>C (p.Glu674Asp)not provided [RCV002618086]uncertain significance6170283257170283257Humanname
156372486CV1993660single nucleotide variantNM_005618.4(DLL1):c.1741G>A (p.Asp581Asn)not provided [RCV002653018]uncertain significance6170283538170283538Humanname
156173935CV2000187single nucleotide variantNM_005618.4(DLL1):c.1726C>T (p.His576Tyr)not provided [RCV002642807]uncertain significance6170283553170283553Humanname
156143498CV2002869single nucleotide variantNM_005618.4(DLL1):c.1052C>T (p.Ser351Phe)not provided [RCV002663654]uncertain significance6170285116170285116Humanname
156223198CV2009281single nucleotide variantNM_005618.4(DLL1):c.1424G>A (p.Gly475Asp)DLL1-related disorder [RCV003409910]|Inborn genetic diseases [RCV005333316]|not provided [RCV002701084]uncertain significance6170283855170283855Human2name , trait , alternate_id
156366123CV2020909single nucleotide variantNM_005618.4(DLL1):c.1943A>T (p.Lys648Met)not provided [RCV002721195]uncertain significance6170283336170283336Humanname
156028615CV2022532single nucleotide variantNM_005618.4(DLL1):c.1631C>T (p.Pro544Leu)not provided [RCV002735707]uncertain significance6170283648170283648Humanname
156104704CV2038451single nucleotide variantNM_005618.4(DLL1):c.1556T>C (p.Leu519Pro)not provided [RCV002761449]uncertain significance6170283723170283723Humanname
155944357CV2039487single nucleotide variantNM_005618.4(DLL1):c.1753G>C (p.Gly585Arg)not provided [RCV002775393]uncertain significance6170283526170283526Humanname
155937426CV2045073single nucleotide variantNM_005618.4(DLL1):c.2045G>C (p.Arg682Thr)not provided [RCV002774972]uncertain significance6170283234170283234Humanname
156233058CV2048833single nucleotide variantNM_005618.4(DLL1):c.2152G>A (p.Val718Ile)not provided [RCV002791071]uncertain significance6170283002170283002Humanname
156171174CV2053377single nucleotide variantNM_005618.4(DLL1):c.2024A>G (p.Lys675Arg)not provided [RCV002801956]uncertain significance6170283255170283255Humanname
155996047CV2064036single nucleotide variantNM_005618.4(DLL1):c.1297G>C (p.Ala433Pro)not provided [RCV002843186]uncertain significance6170283982170283982Humanname
156099608CV2117082single nucleotide variantNM_005618.4(DLL1):c.1793G>A (p.Arg598His)not provided [RCV002952688]conflicting interpretations of pathogenicity|uncertain significance6170283486170283486Humanname
156145607CV2118085single nucleotide variantNM_005618.4(DLL1):c.1960G>A (p.Val654Ile)Inborn genetic diseases [RCV004068007]|not provided [RCV002928722]uncertain significance6170283319170283319Human1name
156351960CV2118665single nucleotide variantNM_005618.4(DLL1):c.1856C>T (p.Ala619Val)Inborn genetic diseases [RCV004614280]|not provided [RCV002966365]likely benign6170283423170283423Human1name
156313141CV2120147single nucleotide variantNM_005618.4(DLL1):c.1421C>T (p.Thr474Met)Inborn genetic diseases [RCV003269361]|not provided [RCV002962736]likely benign|conflicting interpretations of pathogenicity|uncertain significance6170283858170283858Human1name
156313859CV2120202single nucleotide variantNM_005618.4(DLL1):c.1750C>T (p.Arg584Trp)Inborn genetic diseases [RCV002962777]|not provided [RCV002962776]likely benign|uncertain significance6170283529170283529Human1name
156385846CV2125504single nucleotide variantNM_005618.4(DLL1):c.1930G>A (p.Val644Met)not provided [RCV002943477]uncertain significance6170283349170283349Humanname
156245888CV2126459single nucleotide variantNM_005618.4(DLL1):c.1951G>A (p.Asp651Asn)Inborn genetic diseases [RCV003269354]|not provided [RCV002959035]uncertain significance6170283328170283328Human1name
156119754CV2128469single nucleotide variantNM_005618.4(DLL1):c.1621G>A (p.Gly541Arg)not provided [RCV002953451]uncertain significance6170283658170283658Humanname
156112278CV2136244single nucleotide variantNM_005618.4(DLL1):c.2033C>T (p.Pro678Leu)not provided [RCV003002645]uncertain significance6170283246170283246Humanname
156316863CV2140360single nucleotide variantNM_005618.4(DLL1):c.1850A>C (p.Lys617Thr)not provided [RCV003011440]uncertain significance6170283429170283429Humanname
156313727CV2143896single nucleotide variantNM_005618.4(DLL1):c.1577G>C (p.Gly526Ala)Inborn genetic diseases [RCV004978458]|not provided [RCV003011263]likely benign|uncertain significance6170283702170283702Human1name
156366271CV2192333single nucleotide variantNM_005618.4(DLL1):c.1192T>C (p.Ser398Pro)not provided [RCV003065970]uncertain significance6170284976170284976Humanname
156039867CV2219419single nucleotide variantNM_005618.4(DLL1):c.1709G>A (p.Arg570Gln)Inborn genetic diseases [RCV002692184]|not provided [RCV003561084]uncertain significance6170283570170283570Human1name
156343429CV2232730single nucleotide variantNM_005618.4(DLL1):c.1106C>T (p.Thr369Ile)Inborn genetic diseases [RCV002719408]|not provided [RCV003561090]uncertain significance6170285062170285062Human1name
156315487CV2250774single nucleotide variantNM_005618.4(DLL1):c.1390G>A (p.Asp464Asn)Inborn genetic diseases [RCV002809467]uncertain significance6170283889170283889Human1name
156092113CV2256642single nucleotide variantNM_005618.4(DLL1):c.1735C>A (p.Pro579Thr)Inborn genetic diseases [RCV002798573]uncertain significance6170283544170283544Human1name
155958151CV2282160single nucleotide variantNM_005618.4(DLL1):c.1363G>A (p.Gly455Arg)Inborn genetic diseases [RCV002841052]|not provided [RCV005059306]uncertain significance6170283916170283916Human1name
156286450CV2288300single nucleotide variantNM_005618.4(DLL1):c.1337A>G (p.Asp446Gly)Inborn genetic diseases [RCV002878535]uncertain significance6170283942170283942Human1name
156152218CV2318878single nucleotide variantNM_005618.4(DLL1):c.1690G>A (p.Ala564Thr)DLL1-related disorder [RCV004747250]|Inborn genetic diseases [RCV002954721]|not provided [RCV005099877]likely benign|uncertain significance6170283589170283589Human2name , trait , alternate_id
156256013CV2359135single nucleotide variantNM_005618.4(DLL1):c.1504C>T (p.Arg502Cys)Inborn genetic diseases [RCV003008648]|not provided [RCV003778538]uncertain significance6170283775170283775Human1name
11345022CV236846single nucleotide variantNM_005618.4(DLL1):c.2117C>T (p.Ser706Leu)Alobar holoprosencephaly [RCV000223770]|not provided [RCV003556283]uncertain significance6170283037170283037Human2name
156434516CV2402977single nucleotide variantNM_005618.4(DLL1):c.1491C>A (p.His497Gln)not provided [RCV003126405]uncertain significance6170283788170283788Humanname
243057496CV2412097single nucleotide variantNM_005618.4(DLL1):c.1444G>A (p.Val482Ile)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146111]|not provided [RCV003720772]uncertain significance6170283835170283835Human1name
243057497CV2412098single nucleotide variantNM_005618.4(DLL1):c.1508A>G (p.Tyr503Cys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003146112]uncertain significance6170283771170283771Human1name
329361815CV2448047single nucleotide variantNM_005618.4(DLL1):c.1708C>T (p.Arg570Trp)Inborn genetic diseases [RCV003180619]|not provided [RCV005101265]uncertain significance6170283571170283571Human1name
329357611CV2453677single nucleotide variantNM_005618.4(DLL1):c.1743C>G (p.Asp581Glu)Inborn genetic diseases [RCV003203758]uncertain significance6170283536170283536Human1name
329388855CV2469529single nucleotide variantNM_005618.4(DLL1):c.1007C>T (p.Pro336Leu)Inborn genetic diseases [RCV003215938]uncertain significance6170285279170285279Human1name
329353437CV2477007single nucleotide variantNM_005618.4(DLL1):c.1139G>A (p.Arg380Gln)not provided [RCV003223239]likely benign6170285029170285029Humanname
329350130CV2477281single nucleotide variantNM_005618.4(DLL1):c.1397C>T (p.Ser466Phe)not provided [RCV003221606]uncertain significance6170283882170283882Humanname
329351504CV2508072single nucleotide variantNM_005618.4(DLL1):c.2134G>T (p.Glu712Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003224775]uncertain significance6170283020170283020Human1name
329847643CV2524390single nucleotide variantNM_005618.4(DLL1):c.1163G>A (p.Gly388Glu)not provided [RCV003227282]|not specified [RCV005419604]uncertain significance6170285005170285005Humanname
401733637CV2691361single nucleotide variantNM_005618.4(DLL1):c.1888A>C (p.Asn630His)Inborn genetic diseases [RCV003290535]uncertain significance6170283391170283391Human1name
401750398CV2696044single nucleotide variantNM_005618.4(DLL1):c.1973A>G (p.His658Arg)Inborn genetic diseases [RCV003253642]uncertain significance6170283306170283306Human1name
401760904CV2706141single nucleotide variantNM_005618.4(DLL1):c.2000C>A (p.Pro667His)Inborn genetic diseases [RCV003257379]uncertain significance6170283279170283279Human1name
401733957CV2713279single nucleotide variantNM_005618.4(DLL1):c.1367G>A (p.Gly456Asp)Inborn genetic diseases [RCV003272479]uncertain significance6170283912170283912Human1name
401724181CV2714742single nucleotide variantNM_005618.4(DLL1):c.1577G>A (p.Gly526Asp)Inborn genetic diseases [RCV003268550]|not provided [RCV003777076]uncertain significance6170283702170283702Human1name
401749730CV2719381single nucleotide variantNM_005618.4(DLL1):c.1882G>A (p.Asp628Asn)Inborn genetic diseases [RCV003294968]uncertain significance6170283397170283397Human1name
401829704CV2747526single nucleotide variantNM_005618.4(DLL1):c.1475A>G (p.Asn492Ser)not provided [RCV003328992]uncertain significance6170283804170283804Humanname
401858503CV2750612single nucleotide variantNM_005618.4(DLL1):c.1277C>T (p.Ala426Val)not provided [RCV003334285]uncertain significance6170284002170284002Humanname
401862841CV2779038single nucleotide variantNM_005618.4(DLL1):c.2026G>C (p.Gly676Arg)Inborn genetic diseases [RCV003343402]uncertain significance6170283253170283253Human1name
401906189CV2802691single nucleotide variantNM_005618.4(DLL1):c.2125G>T (p.Val709Phe)DLL1-related disorder [RCV003421132]uncertain significance6170283029170283029Humanname , trait , alternate_id
401908605CV2828148single nucleotide variantNM_005618.4(DLL1):c.1970C>T (p.Ala657Val)not provided [RCV003423483]likely benign|conflicting interpretations of pathogenicity6170283309170283309Humanname
401908607CV2828150single nucleotide variantNM_005618.4(DLL1):c.1859A>G (p.Asp620Gly)not provided [RCV003423484]uncertain significance6170283420170283420Humanname
401921483CV2828152single nucleotide variantNM_005618.4(DLL1):c.1177T>C (p.Cys393Arg)not provided [RCV003432182]uncertain significance6170284991170284991Humanname
404998088CV2849979single nucleotide variantNM_005618.4(DLL1):c.2131T>C (p.Ser711Pro)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492988]uncertain significance6170283023170283023Human1name
404998093CV2849980single nucleotide variantNM_005618.4(DLL1):c.1988C>T (p.Thr663Ile)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492989]uncertain significance6170283291170283291Human1name
402478887CV2849982single nucleotide variantNM_005618.4(DLL1):c.1195G>A (p.Gly399Ser)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003492991]|not provided [RCV003779240]uncertain significance6170284973170284973Human1name
402514443CV2855563single nucleotide variantNM_005618.4(DLL1):c.1985A>G (p.Asp662Gly)not provided [RCV003547286]uncertain significance6170283294170283294Humanname
402517538CV2856922single nucleotide variantNM_005618.4(DLL1):c.1307C>T (p.Ser436Leu)not provided [RCV003575606]uncertain significance6170283972170283972Humanname
402505369CV2884423single nucleotide variantNM_005618.4(DLL1):c.1403C>T (p.Thr468Ile)Inborn genetic diseases [RCV004614460]|not provided [RCV003546309]benign|uncertain significance6170283876170283876Human1name
405236622CV2884697single nucleotide variantNM_005618.4(DLL1):c.1505G>A (p.Arg502His)not provided [RCV003556530]uncertain significance6170283774170283774Humanname
405173761CV2907828single nucleotide variantNM_005618.4(DLL1):c.2143G>A (p.Asp715Asn)not provided [RCV003563356]uncertain significance6170283011170283011Humanname
402472820CV2908708single nucleotide variantNM_005618.4(DLL1):c.1183G>A (p.Val395Met)Inborn genetic diseases [RCV004980885]|not provided [RCV003570868]likely benign|uncertain significance6170284985170284985Human1name
405212034CV2917397single nucleotide variantNM_005618.4(DLL1):c.1832A>G (p.Gln611Arg)not provided [RCV003567282]uncertain significance6170283447170283447Humanname
405202828CV2918563single nucleotide variantNM_005618.4(DLL1):c.1615C>T (p.Gln539Ter)not provided [RCV003565938]pathogenic6170283664170283664Humanname
402486740CV2928417single nucleotide variantNM_005618.4(DLL1):c.1795G>C (p.Glu599Gln)not provided [RCV003572599]uncertain significance6170283484170283484Humanname
405014343CV2930368single nucleotide variantNM_005618.4(DLL1):c.1388A>G (p.Asn463Ser)not provided [RCV003577009]uncertain significance6170283891170283891Humanname
402497076CV2942834single nucleotide variantNM_005618.4(DLL1):c.1721A>G (p.Gln574Arg)not provided [RCV003661172]uncertain significance6170283558170283558Humanname
405153210CV2950600single nucleotide variantNM_005618.4(DLL1):c.1981C>A (p.Arg661Ser)not provided [RCV003670198]uncertain significance6170283298170283298Humanname
405121043CV2953931single nucleotide variantNM_005618.4(DLL1):c.1900G>A (p.Ala634Thr)not provided [RCV003667451]likely benign6170283379170283379Humanname
405134754CV2957954single nucleotide variantNM_005618.4(DLL1):c.1175G>T (p.Arg392Leu)not provided [RCV003672716]uncertain significance6170284993170284993Humanname
402518646CV3003478single nucleotide variantNM_005618.4(DLL1):c.1998G>T (p.Gln666His)not provided [RCV003716263]uncertain significance6170283281170283281Humanname
405001790CV3005516single nucleotide variantNM_005618.4(DLL1):c.1904G>A (p.Arg635His)not provided [RCV003693182]uncertain significance6170283375170283375Humanname
405172614CV3030264single nucleotide variantNM_005618.4(DLL1):c.1316A>G (p.His439Arg)not provided [RCV003704752]uncertain significance6170283963170283963Humanname
405078788CV3031755single nucleotide variantNM_005618.4(DLL1):c.2039C>A (p.Thr680Lys)not provided [RCV003698682]uncertain significance6170283240170283240Humanname
405253383CV3044444single nucleotide variantNM_005618.4(DLL1):c.1969G>A (p.Ala657Thr)Inborn genetic diseases [RCV004374005]|not provided [RCV003722505]likely benign|uncertain significance6170283310170283310Human1name
405080958CV3046651single nucleotide variantNM_005618.4(DLL1):c.2148G>C (p.Glu716Asp)Inborn genetic diseases [RCV004373978]|not provided [RCV003717132]uncertain significance6170283006170283006Human1name
405144298CV3056072single nucleotide variantNM_005618.4(DLL1):c.1705G>A (p.Val569Ile)not provided [RCV003725809]uncertain significance6170283574170283574Humanname
405136145CV3130521single nucleotide variantNM_005618.4(DLL1):c.1913C>T (p.Ala638Val)not provided [RCV003838754]uncertain significance6170283366170283366Humanname
404992628CV3132394single nucleotide variantNM_005618.4(DLL1):c.1834A>G (p.Ile612Val)not provided [RCV003827333]uncertain significance6170283445170283445Humanname
405225113CV3142302single nucleotide variantNM_005618.4(DLL1):c.1132G>A (p.Gly378Arg)not provided [RCV003847841]uncertain significance6170285036170285036Humanname
405170015CV3151592single nucleotide variantNM_005618.4(DLL1):c.2051G>C (p.Gly684Ala)not provided [RCV003857743]uncertain significance6170283103170283103Humanname
405139635CV3155085single nucleotide variantNM_005618.4(DLL1):c.1162G>A (p.Gly388Arg)not provided [RCV003855323]uncertain significance6170285006170285006Humanname
405215633CV3160664single nucleotide variantNM_005618.4(DLL1):c.2044A>G (p.Arg682Gly)not provided [RCV003862726]uncertain significance6170283235170283235Humanname
405255570CV3172551single nucleotide variantNM_005618.4(DLL1):c.1324G>A (p.Asp442Asn)not provided [RCV003872489]uncertain significance6170283955170283955Humanname
402525316CV3175969single nucleotide variantNM_005618.4(DLL1):c.1156G>A (p.Asp386Asn)not provided [RCV003880069]uncertain significance6170285012170285012Humanname
402465167CV3177209single nucleotide variantNM_005618.4(DLL1):c.1751G>C (p.Arg584Pro)not provided [RCV003872840]uncertain significance6170283528170283528Humanname
402509870CV3182209single nucleotide variantNM_005618.4(DLL1):c.1270G>A (p.Gly424Ser)not provided [RCV003878863]uncertain significance6170284009170284009Humanname
404979245CV3183170single nucleotide variantNM_005618.4(DLL1):c.1235C>T (p.Ser412Leu)not provided [RCV003880193]uncertain significance6170284933170284933Humanname
405258517CV3194020single nucleotide variantNM_005618.4(DLL1):c.2006G>C (p.Gly669Ala)DLL1-related disorder [RCV003893602]uncertain significance6170283273170283273Humanname , trait , alternate_id
405701052CV3225928single nucleotide variantNM_005618.4(DLL1):c.1492G>A (p.Glu498Lys)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003989367]uncertain significance6170283787170283787Human1name
405708099CV3240462single nucleotide variantNM_005618.4(DLL1):c.1117G>A (p.Gly373Ser)Inborn genetic diseases [RCV004376218]likely benign6170285051170285051Human1name
405708107CV3240463single nucleotide variantNM_005618.4(DLL1):c.1624C>A (p.Pro542Thr)Inborn genetic diseases [RCV004376219]uncertain significance6170283655170283655Human1name
405708114CV3240464single nucleotide variantNM_005618.4(DLL1):c.1633T>A (p.Trp545Arg)Inborn genetic diseases [RCV004376220]|not provided [RCV004723572]uncertain significance6170283646170283646Human1name
405708120CV3240465single nucleotide variantNM_005618.4(DLL1):c.2150G>A (p.Cys717Tyr)Inborn genetic diseases [RCV004376221]uncertain significance6170283004170283004Human1name
407425296CV3409435single nucleotide variantNM_005618.4(DLL1):c.1762G>T (p.Glu588Ter)not provided [RCV004585367]pathogenic6170283517170283517Humanname
407429462CV3413754single nucleotide variantNM_005618.4(DLL1):c.1077C>G (p.Tyr359Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004595163]pathogenic6170285091170285091Human1name
407475121CV3430678single nucleotide variantNM_005618.4(DLL1):c.1877G>A (p.Ser626Asn)Inborn genetic diseases [RCV004616609]uncertain significance6170283402170283402Human1name
407475124CV3430679single nucleotide variantNM_005618.4(DLL1):c.1922A>G (p.Tyr641Cys)Inborn genetic diseases [RCV004616610]uncertain significance6170283357170283357Human1name
408375170CV3510163single nucleotide variantNM_005618.4(DLL1):c.1031C>T (p.Thr344Met)DLL1-related disorder [RCV004747820]uncertain significance6170285255170285255Humanname , trait , alternate_id
408391736CV3523362single nucleotide variantNM_005618.4(DLL1):c.1189T>A (p.Tyr397Asn)not provided [RCV004770735]uncertain significance6170284979170284979Humanname
408380748CV3523646single nucleotide variantNM_005618.4(DLL1):c.1228A>T (p.Ser410Cys)not provided [RCV004766044]uncertain significance6170284940170284940Humanname
408380874CV3523686single nucleotide variantNM_005618.4(DLL1):c.1952A>T (p.Asp651Val)not provided [RCV004766084]uncertain significance6170283327170283327Humanname
408381648CV3523933single nucleotide variantNM_005618.4(DLL1):c.1855G>T (p.Ala619Ser)not provided [RCV004766331]uncertain significance6170283424170283424Humanname
596944960CV3543614single nucleotide variantNM_005618.4(DLL1):c.1793G>C (p.Arg598Pro)not provided [RCV004801736]uncertain significance6170283486170283486Humanname
596938330CV3550173single nucleotide variantNM_005618.4(DLL1):c.1336G>A (p.Asp446Asn)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004813475]uncertain significance6170283943170283943Human1name
596945994CV3550319single nucleotide variantNM_005618.4(DLL1):c.1534G>A (p.Gly512Arg)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004818858]|not provided [RCV005105241]uncertain significance6170283745170283745Human1name
597651144CV3551981single nucleotide variantNM_005618.4(DLL1):c.2113C>A (p.Gln705Lys)not provided [RCV004820694]uncertain significance6170283041170283041Humanname
597658489CV3658859single nucleotide variantNM_005618.4(DLL1):c.1770G>C (p.Met590Ile)Inborn genetic diseases [RCV004976929]uncertain significance6170283509170283509Human1name
597658493CV3658861single nucleotide variantNM_005618.4(DLL1):c.1288C>T (p.Arg430Cys)Inborn genetic diseases [RCV004976930]|not provided [RCV005061706]uncertain significance6170283991170283991Human1name
597658496CV3658862single nucleotide variantNM_005618.4(DLL1):c.1108T>C (p.Cys370Arg)Inborn genetic diseases [RCV004976931]uncertain significance6170285060170285060Human1name
597846064CV3736412single nucleotide variantNM_005618.4(DLL1):c.1574C>T (p.Pro525Leu)not provided [RCV005059990]uncertain significance6170283705170283705Humanname
597868029CV3742850single nucleotide variantNM_005618.4(DLL1):c.2134G>A (p.Glu712Lys)not provided [RCV005068273]uncertain significance6170283020170283020Humanname
597850906CV3746955single nucleotide variantNM_005618.4(DLL1):c.1570C>A (p.Pro524Thr)not provided [RCV005060583]uncertain significance6170283709170283709Humanname
597934747CV3750450single nucleotide variantNM_005618.4(DLL1):c.1780G>A (p.Ala594Thr)not provided [RCV005076375]uncertain significance6170283499170283499Humanname
597858866CV3769683single nucleotide variantNM_005618.4(DLL1):c.1567C>G (p.Leu523Val)not provided [RCV005105726]uncertain significance6170283712170283712Humanname
597847523CV3792811single nucleotide variantNM_005618.4(DLL1):c.1152C>A (p.Ser384Arg)not provided [RCV005144947]uncertain significance6170285016170285016Humanname
597890846CV3805026single nucleotide variantNM_005618.4(DLL1):c.1703G>A (p.Cys568Tyr)not provided [RCV005151288]uncertain significance6170283576170283576Humanname
597974091CV3821081single nucleotide variantNM_005618.4(DLL1):c.2077G>T (p.Asp693Tyr)not provided [RCV005168402]uncertain significance6170283077170283077Humanname
597855765CV3821832single nucleotide variantNM_005618.4(DLL1):c.2032C>G (p.Pro678Ala)not provided [RCV005174310]uncertain significance6170283247170283247Humanname
597862333CV3822646single nucleotide variantNM_005618.4(DLL1):c.1693G>A (p.Val565Met)not provided [RCV005175177]uncertain significance6170283586170283586Humanname
597909594CV3830044single nucleotide variantNM_005618.4(DLL1):c.2047G>A (p.Gly683Ser)not provided [RCV005182613]uncertain significance6170283232170283232Humanname
597896779CV3834645single nucleotide variantNM_005618.4(DLL1):c.1342G>T (p.Ala448Ser)not provided [RCV005180556]uncertain significance6170283937170283937Humanname
597901746CV3845487single nucleotide variantNM_005618.4(DLL1):c.1979A>G (p.Lys660Arg)not provided [RCV005181297]uncertain significance6170283300170283300Humanname
597964414CV3848049single nucleotide variantNM_005618.4(DLL1):c.2074C>T (p.Pro692Ser)not provided [RCV005193928]uncertain significance6170283080170283080Humanname
597958118CV3849069single nucleotide variantNM_005618.4(DLL1):c.1329C>G (p.Asn443Lys)not provided [RCV005192070]uncertain significance6170283950170283950Humanname
597872555CV3849518single nucleotide variantNM_005618.4(DLL1):c.1370C>G (p.Thr457Ser)not provided [RCV005197699]uncertain significance6170283909170283909Humanname
597861268CV3850758single nucleotide variantNM_005618.4(DLL1):c.1685G>C (p.Cys562Ser)not provided [RCV005195891]uncertain significance6170283594170283594Humanname
597928780CV3851837single nucleotide variantNM_005618.4(DLL1):c.1756G>A (p.Glu586Lys)not provided [RCV005206305]uncertain significance6170283523170283523Humanname
597894761CV3857237single nucleotide variantNM_005618.4(DLL1):c.1097G>A (p.Ser366Asn)not provided [RCV005201101]uncertain significance6170285071170285071Humanname
597921735CV3861811single nucleotide variantNM_005618.4(DLL1):c.1781C>T (p.Ala594Val)not provided [RCV005205187]uncertain significance6170283498170283498Humanname
597935507CV3863701single nucleotide variantNM_005618.4(DLL1):c.1279T>A (p.Tyr427Asn)not provided [RCV005207514]uncertain significance6170284000170284000Humanname
598126435CV3886270single nucleotide variantNM_005618.4(DLL1):c.2092A>G (p.Thr698Ala)not provided [RCV005242073]uncertain significance6170283062170283062Humanname
598184449CV3960271single nucleotide variantNM_005618.4(DLL1):c.1296G>C (p.Gln432His)Inborn genetic diseases [RCV005333681]uncertain significance6170283983170283983Human1name
598184454CV3960272single nucleotide variantNM_005618.4(DLL1):c.1418A>C (p.Tyr473Ser)Inborn genetic diseases [RCV005333682]uncertain significance6170283861170283861Human1name
617153536CV4016627single nucleotide variantNM_005618.4(DLL1):c.1720C>T (p.Gln574Ter)not provided [RCV005415724]pathogenic6170283559170283559Humanname
617151355CV4017828single nucleotide variantNM_005618.4(DLL1):c.1651G>T (p.Gly551Trp)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005417616]uncertain significance6170283628170283628Human1name
15104330CV699459single nucleotide variantNM_005618.4(DLL1):c.1564G>A (p.Glu522Lys)not provided [RCV000959663]benign6170283715170283715Humanname
15104335CV699461single nucleotide variantNM_005618.4(DLL1):c.1330G>A (p.Val444Met)not provided [RCV000959664]benign6170283949170283949Humanname
15161816CV710344single nucleotide variantNM_005618.4(DLL1):c.1342G>A (p.Ala448Thr)DLL1-related disorder [RCV003943195]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005367645]|not provided [RCV000970156]likely benign6170283937170283937Human1name , trait , alternate_id
15199100CV765594single nucleotide variantNM_005618.4(DLL1):c.1352C>T (p.Pro451Leu)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV005359674]|not provided [RCV000935005]benign6170283927170283927Human1name
15173959CV789161single nucleotide variantNM_005618.4(DLL1):c.1492G>T (p.Glu498Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984540]pathogenic6170283787170283787Human1name
15173961CV789163single nucleotide variantNM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)Inborn genetic diseases [RCV001267129]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984542]|not provided [RCV002067563]pathogenic6170283754170283754Human2name
405248162CV2982336duplicationNM_005618.4(DLL1):c.137_152dup (p.Pro52fs)not provided [RCV003685908]pathogenic6170289710170289711Humanname
150548234CV1310114deletionNM_005618.4(DLL1):c.461_462del (p.Thr154fs)not provided [RCV003238112]pathogenic6170288447170288448Humanname
153348445CV1692482microsatelliteNM_005618.4(DLL1):c.386_387del (p.Thr129fs)Neurodevelopmental delay [RCV002274335]pathogenic6170288754170288755Humanname
13611639CV514533duplicationNM_005618.4(DLL1):c.543_570dup (p.Phe191fs)not provided [RCV000627604]pathogenic|uncertain significance6170288338170288339Humanname
155643845CV1708154deletionNM_005618.4(DLL1):c.1253_1259del (p.Ala418fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002290142]pathogenic6170284020170284026Human1name
329954266CV2668663microsatelliteNM_005618.4(DLL1):c.1811_1814del (p.Val604fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003230254]|not provided [RCV004779517]likely pathogenic6170283465170283468Humanname
329954260CV2669494microsatelliteNM_005618.4(DLL1):c.2066_2069del (p.Arg689fs)not provided [RCV003232002]uncertain significance6170283085170283088Humanname
15173962CV789164deletionNM_005618.4(DLL1):c.2013_2014del (p.Glu673fs)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV000984543]|not provided [RCV001312098]pathogenic|likely pathogenic6170283265170283266Human1name
40886614CV973527deletionNM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)Inborn genetic diseases [RCV001265783]|Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003759038]|not provided [RCV001384773]pathogenic|likely pathogenic6170283234170283235Human2name
156007689CV2175651indelNM_005618.4(DLL1):c.28_29delinsTT (p.Ala10Leu)not provided [RCV003035072]uncertain significance6170290111170290112Humanname
596944612CV3543263indelNM_005618.4(DLL1):c.635_636delinsAA (p.Cys212Ter)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV004799135]pathogenic6170288273170288274Humanname
151882188CV1402512deletionNM_005618.4(DLL1):c.1877_1885del (p.Ser626_Asp628del)not provided [RCV003327177]likely benign|uncertain significance6170283394170283402Humanname
401914525CV2830732indelNM_005618.4(DLL1):c.1791_1793delinsACTGA (p.Arg598fs)not provided [RCV003442470]likely pathogenic6170283486170283488Humanname
155643899CV1708211insertionNM_005618.4(DLL1):c.1610_1611insCTA (p.Glu537delinsAspTer)Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV002290200]uncertain significance6170283668170283669Human1name
11345025CV236847deletionNM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)DLL1-related disorder [RCV003919898]|Holoprosencephaly sequence [RCV000223908]|not provided [RCV000970783]benign|likely benign|uncertain significance6170283475170283477Human4name , trait , alternate_id
405213120CV3169853indelNM_005618.4(DLL1):c.1873_1882delinsA (p.His625_Asp628delinsAsn)not provided [RCV003862455]uncertain significance6170283397170283406Humanname
405122287CV3004256duplicationNM_005618.4(DLL1):c.800_823dup (p.Cys274_Asn275insThrCysGlnGlnProTrpGlnCys)not provided [RCV003724020]uncertain significance6170285607170285608Humanname