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


282 records found for search term Dll4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150424198CV1184961single nucleotide variantNM_019074.4(DLL4):c.-105C>Gnot provided [RCV001556348]likely benign154092956440929564Humanname
150419334CV1198602single nucleotide variantNM_019074.4(DLL4):c.*304C>Tnot provided [RCV001577129]likely benign154093833840938338Humanname
127312548CV1157444single nucleotide variantNM_019074.4(DLL4):c.67-20C>Tnot provided [RCV001518987]benign|likely benign154092982740929827Humanname
150432696CV1200757single nucleotide variantNM_019074.4(DLL4):c.66+55C>Tnot provided [RCV001581481]likely benign154092978940929789Humanname
150539179CV1298983single nucleotide variantNM_019074.4(DLL4):c.336+6C>Tnot provided [RCV001765777]uncertain significance154093012240930122Humanname
151840601CV1423612single nucleotide variantNM_019074.4(DLL4):c.67-10T>Cnot provided [RCV001977641]likely benign|uncertain significance154092983740929837Humanname
152145980CV1543354single nucleotide variantNM_019074.4(DLL4):c.395-6C>Tnot provided [RCV002178728]likely benign154093149740931497Humanname
152099216CV1611853deletionNM_019074.4(DLL4):c.337-6delnot provided [RCV002172877]likely benign154093061740930617Humanname
156024137CV2055713single nucleotide variantNM_019074.4(DLL4):c.720-9G>Cnot provided [RCV002820760]likely benign154093230840932308Humanname
405223129CV2908387single nucleotide variantNM_019074.4(DLL4):c.395-5C>Gnot provided [RCV003568627]uncertain significance154093149840931498Humanname
402478601CV3033018single nucleotide variantNM_019074.4(DLL4):c.336+8C>Anot provided [RCV003712583]likely benign154093012440930124Humanname
405259176CV3194539single nucleotide variantNM_019074.4(DLL4):c.658+3A>GDLL4-related disorder [RCV003893934]uncertain significance154093176940931769Humanname , trait , alternate_id
597861673CV3798119single nucleotide variantNM_019074.4(DLL4):c.720-4C>Gnot provided [RCV005135899]likely benign154093231340932313Humanname
150504521CV1255255single nucleotide variantNM_019074.4(DLL4):c.659-77C>Tnot provided [RCV001677702]benign154093209440932094Humanname
150463040CV1273096single nucleotide variantNM_019074.4(DLL4):c.659-89G>Tnot provided [RCV001693853]benign154093208240932082Humanname
152081012CV1554584single nucleotide variantNM_019074.4(DLL4):c.395-19C>Tnot provided [RCV002193020]likely benign154093148440931484Humanname
152090395CV1563267single nucleotide variantNM_019074.4(DLL4):c.336+17C>Tnot provided [RCV002113998]benign154093013340930133Humanname
152106388CV1572697single nucleotide variantNM_019074.4(DLL4):c.658+10C>Gnot provided [RCV002152453]likely benign154093177640931776Humanname
152033044CV1614953single nucleotide variantNM_019074.4(DLL4):c.395-18G>Cnot provided [RCV002086699]benign154093148540931485Humanname
152115214CV1659768single nucleotide variantNM_019074.4(DLL4):c.337-20C>Tnot provided [RCV002080797]benign154093060540930605Humanname
156264868CV1977701single nucleotide variantNM_019074.4(DLL4):c.1241-8C>Anot provided [RCV002597901]likely benign154093622040936220Humanname
156241860CV1981364single nucleotide variantNM_019074.4(DLL4):c.720-16C>Gnot provided [RCV002645601]likely benign154093230140932301Humanname
156242476CV2173451single nucleotide variantNM_019074.4(DLL4):c.659-20G>Cnot provided [RCV003043492]likely benign154093215140932151Humanname
402483128CV2937555single nucleotide variantNM_019074.4(DLL4):c.851-10G>Tnot provided [RCV003659826]likely benign154093453840934538Humanname
405118859CV2957436single nucleotide variantNM_019074.4(DLL4):c.851-10G>Anot provided [RCV003667222]likely benign154093453840934538Humanname
405251399CV3049954single nucleotide variantNM_019074.4(DLL4):c.1943+3G>Anot provided [RCV003721893]uncertain significance154093693340936933Humanname
407426687CV3411487single nucleotide variantNM_019074.4(DLL4):c.1944-1G>Cnot provided [RCV004590665]likely pathogenic154093741740937417Humanname
597903698CV3738207single nucleotide variantNM_019074.4(DLL4):c.719+14A>Gnot provided [RCV005072629]likely benign154093224540932245Humanname
597835916CV3739687single nucleotide variantNM_019074.4(DLL4):c.336+11C>Tnot provided [RCV005063907]likely benign154093012740930127Humanname
597872963CV3803274single nucleotide variantNM_019074.4(DLL4):c.850+10G>Cnot provided [RCV005147871]likely benign154093245740932457Humanname
13704940CV514253single nucleotide variantNM_019074.4(DLL4):c.1240+5G>CAdams-Oliver syndrome 6 [RCV000662260]uncertain significance154093512240935122Human1name
15122973CV744870single nucleotide variantNM_019074.4(DLL4):c.720-10T>Cnot provided [RCV000896330]benign154093230740932307Humanname
15117649CV760334single nucleotide variantNM_019074.4(DLL4):c.337-10C>Tnot provided [RCV000917832]likely benign154093061540930615Humanname
150408057CV1177858single nucleotide variantNM_019074.4(DLL4):c.1944-86C>Anot provided [RCV001545769]likely benign154093733240937332Humanname
150514240CV1210930duplicationNM_019074.4(DLL4):c.851-209dupnot provided [RCV001598973]benign154093432340934324Humanname
150474349CV1217787single nucleotide variantNM_019074.4(DLL4):c.1021-46C>Tnot provided [RCV001615798]benign154093485240934852Humanname
150455460CV1259870single nucleotide variantNM_019074.4(DLL4):c.851-307G>Anot provided [RCV001681349]benign154093424140934241Humanname
150462071CV1276034single nucleotide variantNM_019074.4(DLL4):c.658+160G>Anot provided [RCV001709973]benign154093192640931926Humanname
150484739CV1280550single nucleotide variantNM_019074.4(DLL4):c.336+173G>Cnot provided [RCV001715443]benign154093028940930289Human3name
151236095CV1319526deletionNM_019074.4(DLL4):c.851-209delnot provided [RCV001797471]likely benign154093432440934324Humanname
152162494CV1535060single nucleotide variantNM_019074.4(DLL4):c.1943+18G>Tnot provided [RCV002141159]likely benign154093694840936948Humanname
152118474CV1535061single nucleotide variantNM_019074.4(DLL4):c.2052+18C>Tnot provided [RCV002153950]likely benign154093754440937544Humanname
152031008CV1632399single nucleotide variantNM_019074.4(DLL4):c.1020+14C>Tnot provided [RCV002124458]likely benign154093473140934731Humanname
156294606CV1958683single nucleotide variantNM_019074.4(DLL4):c.1944-17G>Anot provided [RCV002577963]likely benign154093740140937401Humanname
156332750CV1966635single nucleotide variantNM_019074.4(DLL4):c.2053-13C>Tnot provided [RCV002600884]likely benign154093801640938016Humanname
156215614CV1983718single nucleotide variantNM_019074.4(DLL4):c.2052+15C>Tnot provided [RCV002626250]likely benign154093754140937541Humanname
156087352CV2034162single nucleotide variantNM_019074.4(DLL4):c.1020+15A>Cnot provided [RCV002760821]likely benign154093473240934732Humanname
405139422CV3125542single nucleotide variantNM_019074.4(DLL4):c.1944-12G>Anot provided [RCV003816649]likely benign154093740640937406Humanname
597929893CV3851238single nucleotide variantNM_019074.4(DLL4):c.1020+14C>Gnot provided [RCV005204206]likely benign154093473140934731Humanname
150415001CV1177859single nucleotide variantNM_019074.4(DLL4):c.2053-170G>Anot provided [RCV001548383]likely benign154093785940937859Humanname
156198539CV2182685single nucleotide variantNM_019074.4(DLL4):c.12G>A (p.Ala4=)not provided [RCV003024371]likely benign154092968040929680Humanname
405136189CV3052212single nucleotide variantNM_019074.4(DLL4):c.18G>A (p.Arg6=)not provided [RCV003725257]likely benign154092968640929686Humanname
151798095CV1352697single nucleotide variantNM_019074.4(DLL4):c.5C>T (p.Ala2Val)not provided [RCV001877125]uncertain significance154092967340929673Humanname
152158525CV1630774single nucleotide variantNM_019074.4(DLL4):c.39A>T (p.Leu13=)DLL4-related disorder [RCV003958728]|not provided [RCV002122785]benign|likely benign154092970740929707Human1name , trait , alternate_id
617153165CV4021140single nucleotide variantNM_019074.4(DLL4):c.69C>A (p.Arg23=)not provided [RCV005428893]likely benign154092984940929849Humanname
156255285CV2060630single nucleotide variantNM_019074.4(DLL4):c.204C>A (p.Val68=)not provided [RCV002791831]likely benign154092998440929984Humanname
155994439CV2156162single nucleotide variantNM_019074.4(DLL4):c.297G>C (p.Gly99=)not provided [RCV002996720]likely benign154093007740930077Humanname
15122192CV739592single nucleotide variantNM_019074.4(DLL4):c.156C>T (p.Pro52=)not provided [RCV000896199]likely benign154092993640929936Humanname
127238547CV1102892single nucleotide variantNM_019074.4(DLL4):c.469T>C (p.Leu157=)not provided [RCV001422930]likely benign154093157740931577Humanname
151802294CV1354331single nucleotide variantNM_019074.4(DLL4):c.55C>T (p.Leu19Phe)Inborn genetic diseases [RCV004611902]|not provided [RCV001867233]likely benign|uncertain significance154092972340929723Human1name
151873933CV1511374single nucleotide variantNM_019074.4(DLL4):c.59G>T (p.Trp20Leu)not provided [RCV001960803]uncertain significance154092972740929727Humanname
152099894CV1578659single nucleotide variantNM_019074.4(DLL4):c.969G>A (p.Leu323=)not provided [RCV002151680]likely benign154093466640934666Humanname
152070084CV1601014single nucleotide variantNM_019074.4(DLL4):c.68G>A (p.Arg23His)Inborn genetic diseases [RCV004612134]|not provided [RCV002091466]likely benign154092984840929848Human1name
152164046CV1619600single nucleotide variantNM_019074.4(DLL4):c.522C>T (p.Ile174=)not provided [RCV002181458]likely benign154093163040931630Humanname
152140195CV1625098single nucleotide variantNM_019074.4(DLL4):c.708A>C (p.Pro236=)not provided [RCV002219267]likely benign154093222040932220Humanname
152027118CV1636029single nucleotide variantNM_019074.4(DLL4):c.891G>T (p.Gly297=)not provided [RCV002085026]likely benign154093458840934588Humanname
156401865CV1908036single nucleotide variantNM_019074.4(DLL4):c.585C>T (p.Phe195=)not provided [RCV002584966]likely benign154093169340931693Humanname
156407449CV1918123single nucleotide variantNM_019074.4(DLL4):c.315G>A (p.Leu105=)not provided [RCV002606897]likely benign154093009540930095Humanname
156125388CV1930461single nucleotide variantNM_019074.4(DLL4):c.978C>T (p.Ser326=)not provided [RCV002640492]uncertain significance154093467540934675Humanname
156442228CV1938140single nucleotide variantNM_019074.4(DLL4):c.441C>G (p.Gly147=)not provided [RCV003112567]likely benign154093154940931549Humanname
156333894CV2000822single nucleotide variantNM_019074.4(DLL4):c.375A>G (p.Pro125=)not provided [RCV002649971]likely benign154093066340930663Humanname
156028308CV2004743single nucleotide variantNM_019074.4(DLL4):c.576T>C (p.Asn192=)not provided [RCV002658548]likely benign154093168440931684Humanname
156105282CV2096385single nucleotide variantNM_019074.4(DLL4):c.753C>T (p.Asn251=)not provided [RCV002913559]likely benign154093235040932350Humanname
156335020CV2191773single nucleotide variantNM_019074.4(DLL4):c.35C>T (p.Ala12Val)not provided [RCV003063914]uncertain significance154092970340929703Humanname
405240921CV3004617single nucleotide variantNM_019074.4(DLL4):c.507C>T (p.Tyr169=)not provided [RCV003719187]uncertain significance154093161540931615Humanname
597874405CV3747245single nucleotide variantNM_019074.4(DLL4):c.393A>G (p.Pro131=)not provided [RCV005068929]uncertain significance154093068140930681Humanname
15178506CV726036single nucleotide variantNM_019074.4(DLL4):c.672G>A (p.Ser224=)DLL4-related disorder [RCV003910462]|not provided [RCV000885077]benign|likely benign154093218440932184Human1name , trait , alternate_id
15177273CV739593single nucleotide variantNM_019074.4(DLL4):c.369C>T (p.His123=)not provided [RCV000906613]benign|likely benign154093065740930657Humanname
15189193CV739594single nucleotide variantNM_019074.4(DLL4):c.516G>C (p.Arg172=)DLL4-related disorder [RCV003958298]|not provided [RCV000909580]benign|likely benign154093162440931624Human1name , trait , alternate_id
15133567CV739595single nucleotide variantNM_019074.4(DLL4):c.762C>T (p.Ile254=)not provided [RCV000898153]benign154093235940932359Humanname
15142320CV739596single nucleotide variantNM_019074.4(DLL4):c.897G>A (p.Thr299=)DLL4-related disorder [RCV003910721]|not provided [RCV000899654]benign|likely benign154093459440934594Human1name , trait , alternate_id
15202886CV754419single nucleotide variantNM_019074.4(DLL4):c.499C>T (p.Leu167=)not provided [RCV000913596]likely benign154093160740931607Humanname
15135727CV754420single nucleotide variantNM_019074.4(DLL4):c.534C>T (p.Asn178=)not provided [RCV000920898]likely benign154093164240931642Humanname
15125827CV754421single nucleotide variantNM_019074.4(DLL4):c.582C>T (p.His194=)not provided [RCV000919224]likely benign154093169040931690Humanname
127292311CV980832single nucleotide variantNM_019074.4(DLL4):c.82G>C (p.Gly28Arg)Adams-Oliver syndrome 6 [RCV001526864]likely pathogenic154092986240929862Human1name
150406852CV1191665single nucleotide variantNM_019074.4(DLL4):c.1239C>T (p.Asn413=)not provided [RCV001564818]benign|likely benign154093511640935116Humanname
152048051CV1519852single nucleotide variantNM_019074.4(DLL4):c.1413T>C (p.Ser471=)not provided [RCV002145314]likely benign154093640040936400Humanname
152075585CV1551217single nucleotide variantNM_019074.4(DLL4):c.1209G>A (p.Val403=)not provided [RCV002192362]likely benign154093508640935086Humanname
152122961CV1587168single nucleotide variantNM_019074.4(DLL4):c.1353C>T (p.His451=)not provided [RCV002135947]likely benign154093634040936340Humanname
152062605CV1594532single nucleotide variantNM_019074.4(DLL4):c.1326C>T (p.Ser442=)not provided [RCV002110302]likely benign154093631340936313Humanname
152062647CV1611951single nucleotide variantNM_019074.4(DLL4):c.1431G>A (p.Val477=)not provided [RCV002128529]benign154093641840936418Humanname
152124579CV1646026single nucleotide variantNM_019074.4(DLL4):c.1971G>A (p.Ala657=)not provided [RCV002217225]likely benign154093744540937445Humanname
155642107CV1706156single nucleotide variantNM_019074.4(DLL4):c.200C>T (p.Ala67Val)not provided [RCV002287018]uncertain significance154092998040929980Humanname
156323572CV1882746single nucleotide variantNM_019074.4(DLL4):c.1497C>T (p.Leu499=)not provided [RCV003089333]benign154093648440936484Humanname
156376219CV1895980single nucleotide variantNM_019074.4(DLL4):c.1806G>A (p.Lys602=)not provided [RCV003092897]likely benign154093679340936793Humanname
156210371CV1909711single nucleotide variantNM_019074.4(DLL4):c.1134G>C (p.Arg378=)not provided [RCV002596039]likely benign154093501140935011Humanname
156210398CV1909712single nucleotide variantNM_019074.4(DLL4):c.1320C>T (p.His440=)DLL4-related disorder [RCV003963681]|not provided [RCV002596040]likely benign154093630740936307Human1name , trait , alternate_id
156049949CV1914995single nucleotide variantNM_019074.4(DLL4):c.1683C>T (p.Asp561=)not provided [RCV002620569]likely benign154093667040936670Humanname
156409106CV1922185single nucleotide variantNM_019074.4(DLL4):c.1317C>T (p.Leu439=)not provided [RCV002607456]likely benign154093630440936304Humanname
155924147CV1940715single nucleotide variantNM_019074.4(DLL4):c.205G>T (p.Val69Phe)Inborn genetic diseases [RCV002969807]|not provided [RCV003108203]likely benign|conflicting interpretations of pathogenicity|uncertain significance154092998540929985Human1name
156442637CV1948736single nucleotide variantNM_019074.4(DLL4):c.1197C>T (p.Cys399=)not provided [RCV003112984]likely benign154093507440935074Humanname
156326768CV1956227single nucleotide variantNM_019074.4(DLL4):c.1416C>G (p.Gly472=)not provided [RCV002579769]likely benign154093640340936403Humanname
156043629CV1977942single nucleotide variantNM_019074.4(DLL4):c.2049G>A (p.Thr683=)not provided [RCV002590420]likely benign154093752340937523Humanname
156164969CV1986176single nucleotide variantNM_019074.4(DLL4):c.1458G>A (p.Ser486=)not provided [RCV002642542]likely benign154093644540936445Humanname
155913436CV1990272single nucleotide variantNM_019074.4(DLL4):c.1734C>T (p.Asn578=)not provided [RCV002614152]likely benign154093672140936721Humanname
156288478CV1998006single nucleotide variantNM_019074.4(DLL4):c.1984A>C (p.Arg662=)not provided [RCV002647099]likely benign154093745840937458Humanname
156290439CV2009657single nucleotide variantNM_019074.4(DLL4):c.1431G>T (p.Val477=)not provided [RCV002715630]likely benign154093641840936418Humanname
156126391CV2031240single nucleotide variantNM_019074.4(DLL4):c.1707C>T (p.Asn569=)not provided [RCV002740398]likely benign154093669440936694Humanname
156119136CV2039272single nucleotide variantNM_019074.4(DLL4):c.1572G>A (p.Pro524=)not provided [RCV002800153]benign154093655940936559Humanname
156017531CV2061719single nucleotide variantNM_019074.4(DLL4):c.1668G>T (p.Arg556=)not provided [RCV002820452]likely benign154093665540936655Humanname
156112944CV2117394single nucleotide variantNM_019074.4(DLL4):c.1836A>T (p.Thr612=)not provided [RCV002953193]likely benign154093682340936823Humanname
155978099CV2147699deletionNM_019074.4(DLL4):c.353del (p.Ile118fs)not provided [RCV003033748]pathogenic154093064140930641Humanname
156150837CV2394681single nucleotide variantNM_019074.4(DLL4):c.293G>C (p.Gly98Ala)Inborn genetic diseases [RCV002764104]uncertain significance154093007340930073Human1name
405188842CV2917971single nucleotide variantNM_019074.4(DLL4):c.1281C>T (p.Arg427=)not provided [RCV003564716]likely benign154093626840936268Humanname
405145858CV2949981single nucleotide variantNM_019074.4(DLL4):c.233C>A (p.Thr78Asn)not provided [RCV003669691]uncertain significance154093001340930013Humanname
405088027CV3044494single nucleotide variantNM_019074.4(DLL4):c.1560C>T (p.Pro520=)not provided [RCV003717614]likely benign154093654740936547Humanname
405168459CV3122324single nucleotide variantNM_019074.4(DLL4):c.1950G>A (p.Lys650=)not provided [RCV003818913]likely benign154093742440937424Humanname
405060099CV3148248single nucleotide variantNM_019074.4(DLL4):c.1635G>A (p.Leu545=)not provided [RCV003850204]likely benign154093662240936622Humanname
405063507CV3148500single nucleotide variantNM_019074.4(DLL4):c.1932G>A (p.Leu644=)not provided [RCV003850456]likely benign154093691940936919Humanname
405289441CV3218222single nucleotide variantNM_019074.4(DLL4):c.1254G>A (p.Leu418=)DLL4-related disorder [RCV003983624]likely benign154093624140936241Humanname , trait , alternate_id
405745158CV3226235single nucleotide variantNM_019074.4(DLL4):c.187A>G (p.Lys63Glu)Adams-Oliver syndrome 6 [RCV003991226]likely pathogenic154092996740929967Human1name
408379242CV3516508single nucleotide variantNM_019074.4(DLL4):c.1314A>G (p.Glu438=)DLL4-related disorder [RCV004752607]likely benign154093630140936301Humanname , trait , alternate_id
596947804CV3547388single nucleotide variantNM_019074.4(DLL4):c.1716G>A (p.Ser572=)not provided [RCV004811692]likely benign154093670340936703Humanname
597862507CV3745089single nucleotide variantNM_019074.4(DLL4):c.1506C>T (p.Asp502=)not provided [RCV005067445]likely benign154093649340936493Humanname
597946942CV3755676single nucleotide variantNM_019074.4(DLL4):c.1404C>T (p.Ala468=)not provided [RCV005078686]likely benign154093639140936391Humanname
597847895CV3775972single nucleotide variantNM_019074.4(DLL4):c.1077T>C (p.Cys359=)not provided [RCV005123499]likely benign154093495440934954Humanname
597875191CV3799734single nucleotide variantNM_019074.4(DLL4):c.1933C>A (p.Arg645=)not provided [RCV005150401]likely benign154093692040936920Humanname
597886339CV3807298single nucleotide variantNM_019074.4(DLL4):c.1122G>C (p.Gly374=)not provided [RCV005159933]likely benign154093499940934999Humanname
597912070CV3852762single nucleotide variantNM_019074.4(DLL4):c.1599G>A (p.Ser533=)not provided [RCV005187162]likely benign154093658640936586Humanname
15167004CV714416single nucleotide variantNM_019074.4(DLL4):c.1074T>C (p.His358=)not provided [RCV000971304]benign154093495140934951Humanname
15199130CV726038single nucleotide variantNM_019074.4(DLL4):c.1005T>C (p.Asn335=)not provided [RCV000890548]likely benign154093470240934702Humanname
15132276CV739597single nucleotide variantNM_019074.4(DLL4):c.1329C>T (p.Asp443=)not provided [RCV000897928]likely benign154093631640936316Humanname
15115307CV754422single nucleotide variantNM_019074.4(DLL4):c.1158T>C (p.Tyr386=)not provided [RCV000917432]likely benign154093503540935035Humanname
15097542CV754423single nucleotide variantNM_019074.4(DLL4):c.1347C>T (p.Cys449=)not provided [RCV000914032]likely benign154093633440936334Humanname
15202430CV754424single nucleotide variantNM_019074.4(DLL4):c.1386C>T (p.Leu462=)DLL4-related disorder [RCV003970393]|not provided [RCV000913425]likely benign154093637340936373Human1name , trait , alternate_id
15198523CV754425single nucleotide variantNM_019074.4(DLL4):c.2034A>G (p.Glu678=)not provided [RCV000912283]likely benign154093750840937508Humanname
15106266CV784911single nucleotide variantNM_019074.4(DLL4):c.1728G>A (p.Lys576=)not provided [RCV000976599]likely benign154093671540936715Humanname
126910080CV1038326single nucleotide variantNM_019074.4(DLL4):c.875C>T (p.Ser292Phe)not provided [RCV001354348]uncertain significance154093457240934572Humanname
150541189CV1298702single nucleotide variantNM_019074.4(DLL4):c.647A>G (p.Tyr216Cys)not provided [RCV001760850]uncertain significance154093175540931755Humanname
150554829CV1304571single nucleotide variantNM_019074.4(DLL4):c.305C>A (p.Pro102His)not provided [RCV001771541]uncertain significance154093008540930085Humanname
150557047CV1310374single nucleotide variantNM_019074.4(DLL4):c.784G>A (p.Gly262Ser)Adams-Oliver syndrome 6 [RCV001775302]likely pathogenic154093238140932381Human1name
151839359CV1345643single nucleotide variantNM_019074.4(DLL4):c.482C>G (p.Thr161Ser)not provided [RCV001902648]uncertain significance154093159040931590Humanname
151828018CV1348180single nucleotide variantNM_019074.4(DLL4):c.470T>C (p.Leu157Ser)not provided [RCV001870253]uncertain significance154093157840931578Humanname
151815330CV1349328single nucleotide variantNM_019074.4(DLL4):c.381C>A (p.Asp127Glu)not provided [RCV001919024]uncertain significance154093066940930669Humanname
151732340CV1355591single nucleotide variantNM_019074.4(DLL4):c.631G>A (p.Gly211Ser)not provided [RCV001984341]uncertain significance154093173940931739Humanname
151854169CV1376471single nucleotide variantNM_019074.4(DLL4):c.926C>T (p.Thr309Ile)Inborn genetic diseases [RCV004612091]|not provided [RCV001996332]uncertain significance154093462340934623Human1name
151831910CV1377968single nucleotide variantNM_019074.4(DLL4):c.671C>T (p.Ser224Leu)not provided [RCV002014389]uncertain significance154093218340932183Humanname
151776278CV1398974single nucleotide variantNM_019074.4(DLL4):c.488C>G (p.Thr163Ser)not provided [RCV001930004]uncertain significance154093159640931596Humanname
151807301CV1400269single nucleotide variantNM_019074.4(DLL4):c.979G>A (p.Glu327Lys)not provided [RCV002012104]uncertain significance154093467640934676Humanname
151845975CV1405619single nucleotide variantNM_019074.4(DLL4):c.472G>A (p.Asp158Asn)not provided [RCV001903438]uncertain significance154093158040931580Humanname
151774476CV1424154single nucleotide variantNM_019074.4(DLL4):c.937C>T (p.Arg313Cys)Inborn genetic diseases [RCV002642182]|not provided [RCV002025677]uncertain significance154093463440934634Human1name
151883919CV1452513single nucleotide variantNM_019074.4(DLL4):c.382G>A (p.Asp128Asn)Adams-Oliver syndrome 6 [RCV002482398]|Inborn genetic diseases [RCV002543459]|not provided [RCV002037444]likely benign|uncertain significance154093067040930670Human2name
151892314CV1480856single nucleotide variantNM_019074.4(DLL4):c.430G>A (p.Ala144Thr)not provided [RCV001943984]uncertain significance154093153840931538Humanname
151871187CV1488764single nucleotide variantNM_019074.4(DLL4):c.742C>T (p.Arg248Trp)not provided [RCV002035687]uncertain significance154093233940932339Humanname
151711502CV1497423single nucleotide variantNM_019074.4(DLL4):c.895A>G (p.Thr299Ala)not provided [RCV002002066]uncertain significance154093459240934592Humanname
151852981CV1514405single nucleotide variantNM_019074.4(DLL4):c.557G>A (p.Arg186His)not provided [RCV001979189]uncertain significance154093166540931665Humanname
152107751CV1550677single nucleotide variantNM_019074.4(DLL4):c.398C>A (p.Ala133Asp)not provided [RCV002152633]likely benign154093150640931506Humanname
152064301CV1606774single nucleotide variantNM_019074.4(DLL4):c.938G>A (p.Arg313His)DLL4-related disorder [RCV003941346]|Inborn genetic diseases [RCV002562281]|not provided [RCV002209103]likely benign|uncertain significance154093463540934635Human2name , trait , alternate_id
156399797CV1892712single nucleotide variantNM_019074.4(DLL4):c.704A>C (p.Lys235Thr)Inborn genetic diseases [RCV004614338]|not provided [RCV003069020]likely benign|uncertain significance154093221640932216Human1name
156407523CV1957518single nucleotide variantNM_019074.4(DLL4):c.782A>G (p.His261Arg)not provided [RCV002586255]uncertain significance154093237940932379Humanname
156157686CV1967715single nucleotide variantNM_019074.4(DLL4):c.595G>A (p.Val199Met)not provided [RCV002594355]uncertain significance154093170340931703Humanname
156101506CV2001104single nucleotide variantNM_019074.4(DLL4):c.595G>C (p.Val199Leu)not provided [RCV002639600]likely benign154093170340931703Humanname
156391213CV2006196single nucleotide variantNM_019074.4(DLL4):c.754G>A (p.Glu252Lys)Inborn genetic diseases [RCV004066822]|not provided [RCV002654399]uncertain significance154093235140932351Human1name
10401282CV200762single nucleotide variantNM_019074.4(DLL4):c.361G>C (p.Ala121Pro)Adams-Oliver syndrome 6 [RCV000195289]|Adams-Oliver syndrome [RCV000190441]pathogenic154093064940930649Human2name
10401280CV200763single nucleotide variantNM_019074.4(DLL4):c.556C>T (p.Arg186Cys)Adams-Oliver syndrome 6 [RCV000195285]|Adams-Oliver syndrome [RCV000190439]|DLL4-related disorder [RCV004730899]pathogenic|likely pathogenic154093166440931664Human2name , trait , alternate_id
10401283CV200764single nucleotide variantNM_019074.4(DLL4):c.583T>C (p.Phe195Leu)Adams-Oliver syndrome [RCV000190442]pathogenic154093169140931691Human1name
10401281CV200765single nucleotide variantNM_019074.4(DLL4):c.799C>A (p.Pro267Thr)Adams-Oliver syndrome 6 [RCV000662259]|Adams-Oliver syndrome [RCV000190440]pathogenic|uncertain significance|no classifications from unflagged records154093239640932396Human2name
155997306CV2373169single nucleotide variantNM_019074.4(DLL4):c.661A>G (p.Ile221Val)Inborn genetic diseases [RCV002689742]uncertain significance154093217340932173Human1name
329402243CV2454085single nucleotide variantNM_019074.4(DLL4):c.926C>G (p.Thr309Ser)Inborn genetic diseases [RCV003199150]uncertain significance154093462340934623Human1name
401725430CV2721769single nucleotide variantNM_019074.4(DLL4):c.384C>A (p.Asp128Glu)Inborn genetic diseases [RCV003268972]likely benign154093067240930672Human1name
401931457CV2796425single nucleotide variantNM_019074.4(DLL4):c.572G>A (p.Arg191His)DLL4-related disorder [RCV003391425]likely pathogenic154093168040931680Humanname , trait , alternate_id
401912690CV2800761single nucleotide variantNM_019074.4(DLL4):c.899G>A (p.Cys300Tyr)DLL4-related disorder [RCV003399937]uncertain significance154093459640934596Humanname , trait , alternate_id
401916140CV2817431single nucleotide variantNM_019074.4(DLL4):c.490C>T (p.Leu164Phe)not provided [RCV003400872]uncertain significance154093159840931598Humanname
405234515CV2975509single nucleotide variantNM_019074.4(DLL4):c.628C>A (p.Pro210Thr)not provided [RCV003682690]uncertain significance154093173640931736Humanname
402488235CV3034137single nucleotide variantNM_019074.4(DLL4):c.714G>T (p.Glu238Asp)not provided [RCV003713455]uncertain significance154093222640932226Humanname
405708302CV3240492single nucleotide variantNM_019074.4(DLL4):c.471G>C (p.Leu157Phe)DLL4-related disorder [RCV004753743]|Inborn genetic diseases [RCV004376248]uncertain significance154093157940931579Human2name , trait , alternate_id
405708309CV3240493single nucleotide variantNM_019074.4(DLL4):c.682G>C (p.Glu228Gln)Inborn genetic diseases [RCV004376249]likely benign154093219440932194Human1name
407429139CV3413526single nucleotide variantNM_019074.4(DLL4):c.329C>T (p.Thr110Ile)Adams-Oliver syndrome 6 [RCV004594934]likely pathogenic154093010940930109Human1name
407475164CV3430688single nucleotide variantNM_019074.4(DLL4):c.357C>G (p.Ile119Met)Inborn genetic diseases [RCV004616619]uncertain significance154093064540930645Human1name
597658584CV3658885single nucleotide variantNM_019074.4(DLL4):c.890G>A (p.Gly297Glu)Inborn genetic diseases [RCV004976952]uncertain significance154093458740934587Human1name
597845059CV3772237single nucleotide variantNM_019074.4(DLL4):c.392C>G (p.Pro131Arg)not provided [RCV005120556]uncertain significance154093068040930680Humanname
597851148CV3781825deletionNM_019074.4(DLL4):c.1528del (p.Tyr510fs)not provided [RCV005126253]pathogenic154093651440936514Humanname
13704925CV514252single nucleotide variantNM_019074.4(DLL4):c.949A>C (p.Thr317Pro)Adams-Oliver syndrome 6 [RCV000662242]likely pathogenic154093464640934646Human1name
15153392CV726037single nucleotide variantNM_019074.4(DLL4):c.743G>A (p.Arg248Gln)Inborn genetic diseases [RCV002539290]|not provided [RCV000880000]likely benign154093234040932340Human1name
150555129CV1295944single nucleotide variantNM_019074.4(DLL4):c.1658G>A (p.Arg553Gln)Inborn genetic diseases [RCV004040149]|not provided [RCV001772453]likely benign|uncertain significance154093664540936645Human1name
150553445CV1303442single nucleotide variantNM_019074.4(DLL4):c.1229C>T (p.Pro410Leu)not provided [RCV001769132]uncertain significance154093510640935106Humanname
151843918CV1375807single nucleotide variantNM_019074.4(DLL4):c.1895C>T (p.Pro632Leu)not provided [RCV001995091]uncertain significance154093688240936882Humanname
151893043CV1411852single nucleotide variantNM_019074.4(DLL4):c.1064A>G (p.Tyr355Cys)not provided [RCV001944712]uncertain significance154093494140934941Humanname
151819562CV1416000single nucleotide variantNM_019074.4(DLL4):c.1132C>T (p.Arg378Trp)not provided [RCV001919431]uncertain significance154093500940935009Humanname
151774701CV1440110single nucleotide variantNM_019074.4(DLL4):c.1291G>A (p.Gly431Arg)not provided [RCV001874787]uncertain significance154093627840936278Humanname
151774223CV1440527single nucleotide variantNM_019074.4(DLL4):c.1280G>A (p.Arg427His)not provided [RCV001896639]uncertain significance154093626740936267Humanname
151890373CV1448141single nucleotide variantNM_019074.4(DLL4):c.1270C>A (p.Arg424Ser)Inborn genetic diseases [RCV004043339]|not provided [RCV001943021]uncertain significance154093625740936257Human1name
151733533CV1456549single nucleotide variantNM_019074.4(DLL4):c.1337G>A (p.Arg446His)not provided [RCV002041446]uncertain significance154093632440936324Humanname
151840751CV1462619single nucleotide variantNM_019074.4(DLL4):c.1933C>T (p.Arg645Trp)not provided [RCV002015303]uncertain significance154093692040936920Humanname
151838276CV1470226single nucleotide variantNM_019074.4(DLL4):c.1683C>G (p.Asp561Glu)not provided [RCV001902536]uncertain significance154093667040936670Humanname
151867195CV1474104single nucleotide variantNM_019074.4(DLL4):c.1421G>A (p.Arg474His)not provided [RCV001906026]uncertain significance154093640840936408Humanname
151728532CV1486738single nucleotide variantNM_019074.4(DLL4):c.1873G>A (p.Gly625Arg)Inborn genetic diseases [RCV002552295]|not provided [RCV001892001]likely benign|uncertain significance154093686040936860Human1name
151791267CV1489946single nucleotide variantNM_019074.4(DLL4):c.1321G>A (p.Val441Ile)Inborn genetic diseases [RCV002557785]|not provided [RCV001952072]likely benign|uncertain significance154093630840936308Human1name
151829604CV1491540single nucleotide variantNM_019074.4(DLL4):c.1670T>G (p.Leu557Arg)Inborn genetic diseases [RCV004976081]|not provided [RCV002030668]uncertain significance154093665740936657Human1name
151736167CV1507107single nucleotide variantNM_019074.4(DLL4):c.1870C>T (p.Arg624Trp)Inborn genetic diseases [RCV002561509]|not provided [RCV001984742]likely benign|uncertain significance154093685740936857Human1name
151757334CV1514151single nucleotide variantNM_019074.4(DLL4):c.1001G>A (p.Arg334His)not provided [RCV001948750]uncertain significance154093469840934698Humanname
152981242CV1676710single nucleotide variantNM_019074.4(DLL4):c.1143C>G (p.Asn381Lys)not provided [RCV003093971]|not specified [RCV002247774]uncertain significance154093502040935020Humanname
155703977CV1774823single nucleotide variantNM_019074.4(DLL4):c.2012T>C (p.Leu671Ser)not provided [RCV002300098]uncertain significance154093748640937486Humanname
156412922CV1887027single nucleotide variantNM_019074.4(DLL4):c.1418G>A (p.Arg473Gln)not provided [RCV003073086]likely benign154093640540936405Humanname
156059908CV1892297single nucleotide variantNM_019074.4(DLL4):c.1025A>G (p.Gln342Arg)not provided [RCV003079187]uncertain significance154093490240934902Humanname
156342258CV1896923single nucleotide variantNM_019074.4(DLL4):c.1327G>A (p.Asp443Asn)not provided [RCV003090430]uncertain significance154093631440936314Humanname
156444326CV1938182single nucleotide variantNM_019074.4(DLL4):c.1871G>A (p.Arg624Gln)not provided [RCV003115250]uncertain significance154093685840936858Humanname
156419844CV1967431single nucleotide variantNM_019074.4(DLL4):c.1960C>T (p.Arg654Trp)not provided [RCV002613090]uncertain significance154093743440937434Humanname
10401279CV200766single nucleotide variantNM_019074.4(DLL4):c.1168T>C (p.Cys390Arg)Adams-Oliver syndrome 6 [RCV000195284]|Adams-Oliver syndrome [RCV000190438]pathogenic154093504540935045Human2name
10401278CV200767single nucleotide variantNM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr)Adams-Oliver syndrome 6 [RCV000195288]|Adams-Oliver syndrome [RCV000190437]pathogenic154093504640935046Human2name
10401277CV200768single nucleotide variantNM_019074.4(DLL4):c.1365C>G (p.Cys455Trp)Adams-Oliver syndrome [RCV000190436]pathogenic154093635240936352Human1name
10401276CV200769single nucleotide variantNM_019074.4(DLL4):c.1660C>T (p.Gln554Ter)Adams-Oliver syndrome 6 [RCV000195286]|Adams-Oliver syndrome [RCV000190434]pathogenic154093664740936647Human2name
10401275CV200770single nucleotide variantNM_019074.4(DLL4):c.1672C>T (p.Arg558Ter)Adams-Oliver syndrome 6 [RCV000195290]|Adams-Oliver syndrome [RCV000190435]pathogenic154093665940936659Human2name
156265691CV2030435single nucleotide variantNM_019074.4(DLL4):c.1873G>C (p.Gly625Arg)not provided [RCV002746462]uncertain significance154093686040936860Humanname
156135989CV2044361single nucleotide variantNM_019074.4(DLL4):c.1961G>A (p.Arg654Gln)not provided [RCV002786350]uncertain significance154093743540937435Humanname
155938616CV2046087single nucleotide variantNM_019074.4(DLL4):c.1336C>T (p.Arg446Cys)not provided [RCV002751631]uncertain significance154093632340936323Humanname
156093781CV2114087single nucleotide variantNM_019074.4(DLL4):c.1138C>T (p.Arg380Cys)not provided [RCV002926780]uncertain significance154093501540935015Humanname
155908248CV2130948single nucleotide variantNM_019074.4(DLL4):c.1154A>C (p.Asn385Thr)not provided [RCV002967852]uncertain significance154093503140935031Humanname
156147260CV2130980single nucleotide variantNM_019074.4(DLL4):c.1433G>A (p.Arg478Gln)not provided [RCV002982527]uncertain significance154093642040936420Humanname
156394589CV2141305single nucleotide variantNM_019074.4(DLL4):c.1312G>A (p.Glu438Lys)not provided [RCV002944291]uncertain significance154093629940936299Humanname
155910581CV2141560single nucleotide variantNM_019074.4(DLL4):c.1186G>A (p.Gly396Ser)Inborn genetic diseases [RCV002968017]|not provided [RCV002979002]likely benign|uncertain significance154093506340935063Human1name
156262220CV2143369single nucleotide variantNM_019074.4(DLL4):c.1240G>A (p.Gly414Arg)not provided [RCV003008963]pathogenic154093511740935117Humanname
156313622CV2143889single nucleotide variantNM_019074.4(DLL4):c.1864C>G (p.Leu622Val)not provided [RCV003011257]benign154093685140936851Humanname
155955934CV2162636single nucleotide variantNM_019074.4(DLL4):c.1747G>T (p.Ala583Ser)not provided [RCV003015099]uncertain significance154093673440936734Humanname
155965537CV2206488single nucleotide variantNM_019074.4(DLL4):c.1102G>A (p.Asp368Asn)Adams-Oliver syndrome 6 [RCV005356314]|DLL4-related disorder [RCV003395632]|Inborn genetic diseases [RCV002687026]uncertain significance154093497940934979Human2name , trait , alternate_id
156153158CV2265967single nucleotide variantNM_019074.4(DLL4):c.1072C>T (p.His358Tyr)Inborn genetic diseases [RCV002826906]uncertain significance154093494940934949Human1name
156262217CV2314831single nucleotide variantNM_019074.4(DLL4):c.1769A>C (p.Gln590Pro)Inborn genetic diseases [RCV002920574]uncertain significance154093675640936756Human1name
156083566CV2369035single nucleotide variantNM_019074.4(DLL4):c.1106C>A (p.Ser369Tyr)Inborn genetic diseases [RCV003001435]uncertain significance154093498340934983Human1name
329951803CV2671458single nucleotide variantNM_019074.4(DLL4):c.1396T>C (p.Cys466Arg)Adams-Oliver syndrome 6 [RCV003236682]likely pathogenic154093638340936383Human1name
401741067CV2690368single nucleotide variantNM_019074.4(DLL4):c.1899C>G (p.His633Gln)Inborn genetic diseases [RCV003274517]uncertain significance154093688640936886Human1name
401795971CV2740133single nucleotide variantNM_019074.4(DLL4):c.1429G>T (p.Val477Leu)Adams-Oliver syndrome 6 [RCV003320423]uncertain significance154093641640936416Human1name
401862126CV2775160single nucleotide variantNM_019074.4(DLL4):c.1142A>G (p.Asn381Ser)Inborn genetic diseases [RCV003343082]uncertain significance154093501940935019Human1name
405124784CV2889634single nucleotide variantNM_019074.4(DLL4):c.1552G>A (p.Glu518Lys)not provided [RCV003559462]likely benign154093653940936539Humanname
405191412CV2964697single nucleotide variantNM_019074.4(DLL4):c.1387A>C (p.Met463Leu)not provided [RCV003677128]uncertain significance154093637440936374Humanname
405077010CV3008065single nucleotide variantNM_019074.4(DLL4):c.1357G>A (p.Gly453Ser)not provided [RCV003716819]uncertain significance154093634440936344Humanname
405243344CV3043869single nucleotide variantNM_019074.4(DLL4):c.1687G>A (p.Gly563Ser)not provided [RCV003719626]uncertain significance154093667440936674Humanname
405026565CV3079335single nucleotide variantNM_019074.4(DLL4):c.1198G>A (p.Glu400Lys)not provided [RCV003738830]uncertain significance154093507540935075Humanname
405084706CV3121971single nucleotide variantNM_019074.4(DLL4):c.1934G>A (p.Arg645Gln)not provided [RCV003810726]uncertain significance154093692140936921Humanname
405040983CV3141108single nucleotide variantNM_019074.4(DLL4):c.2001G>C (p.Gln667His)not provided [RCV003831401]uncertain significance154093747540937475Humanname
405188169CV3149238single nucleotide variantNM_019074.4(DLL4):c.1925C>T (p.Ala642Val)DLL4-related disorder [RCV004753729]|not provided [RCV003843164]uncertain significance154093691240936912Human1name , trait , alternate_id
405190327CV3156988single nucleotide variantNM_019074.4(DLL4):c.1598C>T (p.Ser533Leu)not provided [RCV003859676]uncertain significance154093658540936585Humanname
405084555CV3167264single nucleotide variantNM_019074.4(DLL4):c.1675C>T (p.Arg559Trp)not provided [RCV003851845]uncertain significance154093666240936662Humanname
405252933CV3178147single nucleotide variantNM_019074.4(DLL4):c.1886G>A (p.Gly629Glu)not provided [RCV003870927]uncertain significance154093687340936873Humanname
405708116CV3225466single nucleotide variantNM_019074.4(DLL4):c.1109C>T (p.Pro370Leu)Adams-Oliver syndrome 6 [RCV003990522]uncertain significance154093498640934986Human1name
405708250CV3240484single nucleotide variantNM_019074.4(DLL4):c.1154A>G (p.Asn385Ser)Inborn genetic diseases [RCV004376240]likely benign154093503140935031Human1name
405708257CV3240485single nucleotide variantNM_019074.4(DLL4):c.1244G>C (p.Gly415Ala)Inborn genetic diseases [RCV004376241]uncertain significance154093623140936231Human1name
405708264CV3240486single nucleotide variantNM_019074.4(DLL4):c.1298C>T (p.Thr433Met)Inborn genetic diseases [RCV004376242]uncertain significance154093628540936285Human1name
405708271CV3240487single nucleotide variantNM_019074.4(DLL4):c.1444G>A (p.Asp482Asn)Inborn genetic diseases [RCV004376243]uncertain significance154093643140936431Human1name
405708282CV3240489single nucleotide variantNM_019074.4(DLL4):c.1673G>A (p.Arg558Gln)Inborn genetic diseases [RCV004376245]uncertain significance154093666040936660Human1name
405708289CV3240490single nucleotide variantNM_019074.4(DLL4):c.1684G>A (p.Asp562Asn)Inborn genetic diseases [RCV004376246]uncertain significance154093667140936671Human1name
405708297CV3240491single nucleotide variantNM_019074.4(DLL4):c.1993A>C (p.Met665Leu)Inborn genetic diseases [RCV004376247]likely benign154093746740937467Human1name
407475151CV3430685single nucleotide variantNM_019074.4(DLL4):c.1405G>A (p.Gly469Ser)Inborn genetic diseases [RCV004616616]uncertain significance154093639240936392Human1name
407475159CV3430687single nucleotide variantNM_019074.4(DLL4):c.1956G>C (p.Glu652Asp)Inborn genetic diseases [RCV004616618]uncertain significance154093743040937430Human1name
407475167CV3430689single nucleotide variantNM_019074.4(DLL4):c.1210G>A (p.Asp404Asn)Inborn genetic diseases [RCV004616620]uncertain significance154093508740935087Human1name
408383112CV3504578single nucleotide variantNM_019074.4(DLL4):c.1998C>G (p.Tyr666Ter)DLL4-related disorder [RCV004730358]likely pathogenic154093747240937472Humanname , trait , alternate_id
408383672CV3507068single nucleotide variantNM_019074.4(DLL4):c.1862C>T (p.Pro621Leu)DLL4-related disorder [RCV004730801]uncertain significance154093684940936849Humanname , trait , alternate_id
408386691CV3518494single nucleotide variantNM_019074.4(DLL4):c.1640T>C (p.Met547Thr)not provided [RCV004760812]uncertain significance154093662740936627Humanname
597658572CV3658882single nucleotide variantNM_019074.4(DLL4):c.2017T>A (p.Ser673Thr)Inborn genetic diseases [RCV004976949]uncertain significance154093749140937491Human1name
597658576CV3658883single nucleotide variantNM_019074.4(DLL4):c.1259G>A (p.Arg420Gln)Inborn genetic diseases [RCV004976950]uncertain significance154093624640936246Human1name
597658580CV3658884single nucleotide variantNM_019074.4(DLL4):c.1012A>G (p.Ser338Gly)Inborn genetic diseases [RCV004976951]uncertain significance154093470940934709Human1name
597658587CV3658887single nucleotide variantNM_019074.4(DLL4):c.1681G>A (p.Asp561Asn)Inborn genetic diseases [RCV004976953]uncertain significance154093666840936668Human1name
597714628CV3733126single nucleotide variantNM_019074.4(DLL4):c.1424G>C (p.Cys475Ser)Adams-Oliver syndrome 6 [RCV005052315]likely pathogenic154093641140936411Human1name
597832954CV3734781single nucleotide variantNM_019074.4(DLL4):c.1844A>G (p.Tyr615Cys)Adams-Oliver syndrome 6 [RCV005054514]uncertain significance154093683140936831Human1name
597834146CV3735192single nucleotide variantNM_019074.4(DLL4):c.1088C>T (p.Thr363Ile)not provided [RCV005054925]uncertain significance154093496540934965Humanname
597925927CV3748839single nucleotide variantNM_019074.4(DLL4):c.1547G>A (p.Arg516His)not provided [RCV005075295]uncertain significance154093653440936534Humanname
597856497CV3778160single nucleotide variantNM_019074.4(DLL4):c.1750C>T (p.Gln584Ter)not provided [RCV005130884]pathogenic154093673740936737Humanname
597884134CV3819244single nucleotide variantNM_019074.4(DLL4):c.1349C>T (p.Ala450Val)Inborn genetic diseases [RCV005326023]|not provided [RCV005159054]uncertain significance154093633640936336Human1name
597925523CV3859537single nucleotide variantNM_019074.4(DLL4):c.1594G>A (p.Val532Ile)not provided [RCV005200193]uncertain significance154093658140936581Humanname
598184526CV3960285single nucleotide variantNM_019074.4(DLL4):c.1139G>A (p.Arg380His)Inborn genetic diseases [RCV005333695]uncertain significance154093501640935016Human1name
616938523CV4015012single nucleotide variantNM_019074.4(DLL4):c.1423T>G (p.Cys475Gly)not provided [RCV005412028]uncertain significance154093641040936410Humanname
13704926CV514254single nucleotide variantNM_019074.4(DLL4):c.1310G>C (p.Cys437Ser)Adams-Oliver syndrome 6 [RCV000662243]pathogenic154093629740936297Human1name
13704927CV514255single nucleotide variantNM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr)Adams-Oliver syndrome 6 [RCV000662244]pathogenic154093638440936384Human1name
13704917CV514256single nucleotide variantNM_019074.4(DLL4):c.1825C>T (p.Gln609Ter)Adams-Oliver syndrome 6 [RCV000662234]pathogenic154093681240936812Human1name
13831615CV582113single nucleotide variantNM_019074.4(DLL4):c.1109C>G (p.Pro370Arg)not provided [RCV000722295]uncertain significance154093498640934986Humanname
15179916CV726039single nucleotide variantNM_019074.4(DLL4):c.1561G>A (p.Val521Met)not provided [RCV000885402]benign154093654840936548Humanname
21068945CV788887single nucleotide variantNM_019074.4(DLL4):c.1392C>A (p.Cys464Ter)Adams-Oliver syndrome 6 [RCV000985148]likely pathogenic154093637940936379Human1name
40816185CV969180single nucleotide variantNM_019074.4(DLL4):c.1336C>A (p.Arg446Ser)not specified [RCV001260296]uncertain significance154093632340936323Humanname
13704939CV514251deletionNM_019074.4(DLL4):c.265_267del (p.Phe89del)Adams-Oliver syndrome 6 [RCV000662258]uncertain significance154093004440930046Human1name
13532336CV512138deletionNM_019074.4(DLL4):c.1679_1689del (p.Pro560fs)Inborn genetic diseases [RCV000624101]likely pathogenic154093665940936669Human1name
34888513CV917779deletionNM_019074.4(DLL4):c.1857_1864del (p.Pro621fs)Adams-Oliver syndrome 6 [RCV001194629]pathogenic154093683840936845Human1name
405152067CV2957004deletionNM_019074.4(DLL4):c.1742_1750del (p.Pro581_Ala583del)not provided [RCV003670026]uncertain significance154093672840936736Humanname
13832449CV582944deletionNM_019074.4(DLL4):c.1508_1510del (p.Thr503_Phe504delinsIle)not provided [RCV000723138]uncertain significance154093649540936497Humanname