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


319 records found for search term Cdh15
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401911970CV2817989single nucleotide variantNM_004933.3(CDH15):c.*3C>Tnot provided [RCV003426923]uncertain significance168919515889195158Humanname
15165141CV744899single nucleotide variantNM_004933.3(CDH15):c.792+7C>Tnot provided [RCV000904158]benign|likely benign168918756489187564Humanname
126743355CV1021556single nucleotide variantNM_004933.3(CDH15):c.1615+5G>AIntellectual disability, autosomal dominant 3 [RCV001336752]uncertain significance168919189989191899Human1name
151353814CV1327366single nucleotide variantNM_004933.3(CDH15):c.1855+9G>Anot specified [RCV001817310]likely benign168919245389192453Humanname
10403532CV208311single nucleotide variantNM_004933.3(CDH15):c.1615+3G>Anot specified [RCV000192774]likely benign|uncertain significance168919189789191897Humanname
405271577CV3209442single nucleotide variantNM_004933.3(CDH15):c.2152-9T>CCDH15-related disorder [RCV003949763]likely benign168919485389194853Humanname , trait , alternate_id
405283372CV3218547single nucleotide variantNM_004933.3(CDH15):c.1376-8G>ACDH15-related disorder [RCV003957332]likely benign168919164789191647Humanname , trait , alternate_id
408380529CV3501185single nucleotide variantNM_004933.3(CDH15):c.1616-6C>Tnot provided [RCV004727273]likely benign168919219989192199Humanname
596942506CV3544141single nucleotide variantNM_004933.3(CDH15):c.1993-5C>Gnot specified [RCV004800132]likely benign168919375089193750Humanname
12900536CV409785single nucleotide variantNM_004933.3(CDH15):c.1232+2T>Anot provided [RCV000482598]uncertain significance168919049889190498Humanname
126743350CV1021555single nucleotide variantNM_004933.3(CDH15):c.1376-17G>AIntellectual disability, autosomal dominant 3 [RCV001336751]uncertain significance168919163889191638Human1name
15195058CV731120single nucleotide variantNM_004933.3(CDH15):c.1375+10G>Anot provided [RCV000889395]likely benign168919148289191482Humanname
401944514CV2840183single nucleotide variantNM_004933.3(CDH15):c.76A>C (p.Arg26=)not provided [RCV003457259]likely benign168917944989179449Humanname
13480133CV445662single nucleotide variantNM_004933.3(CDH15):c.2T>A (p.Met1Lys)not provided [RCV000521143]uncertain significance168917183389171833Humanname
151355448CV1328515single nucleotide variantNM_004933.3(CDH15):c.165C>T (p.Ser55=)not specified [RCV001820520]likely benign168917953889179538Humanname
8659236CV134092single nucleotide variantNM_004933.3(CDH15):c.153G>A (p.Pro51=)not provided [RCV000965337]|not specified [RCV000116615]benign|likely benign168917952689179526Humanname
8659235CV134093single nucleotide variantNM_004933.3(CDH15):c.171C>T (p.Asn57=)not provided [RCV004703379]|not specified [RCV000116616]benign|likely benign168917954489179544Humanname
8659234CV134094single nucleotide variantNM_004933.3(CDH15):c.174C>T (p.His58=)not provided [RCV004709248]|not specified [RCV000116617]benign|likely benign168917954789179547Humanname
8659187CV134100single nucleotide variantNM_004933.3(CDH15):c.264T>C (p.Asp88=)not provided [RCV001711385]|not specified [RCV000116623]benign|likely benign168918026289180262Humanname
152980339CV1678555single nucleotide variantNM_004933.3(CDH15):c.22G>C (p.Val8Leu)not provided [RCV004694202]|not specified [RCV002247062]uncertain significance168917185389171853Humanname
155743368CV1839386single nucleotide variantNM_004933.3(CDH15):c.183C>T (p.Leu61=)not specified [RCV004059971]likely benign168917955689179556Humanname
155953243CV1936189single nucleotide variantNM_004933.3(CDH15):c.291C>T (p.Ile97=)not provided [RCV002511846]likely benign168918028989180289Humanname
401911953CV2817963single nucleotide variantNM_004933.3(CDH15):c.279C>G (p.Gly93=)not provided [RCV003426910]likely benign168918027789180277Humanname
405256776CV3185899single nucleotide variantNM_004933.3(CDH15):c.111G>A (p.Ala37=)CDH15-related disorder [RCV003909217]|not provided [RCV003884975]likely benign168917948489179484Human1name , trait , alternate_id
405257086CV3186748single nucleotide variantNM_004933.3(CDH15):c.255C>A (p.Pro85=)CDH15-related disorder [RCV003909221]|not provided [RCV003886829]likely benign168918025389180253Human1name , trait , alternate_id
597788720CV3645194single nucleotide variantNM_004933.3(CDH15):c.14T>G (p.Phe5Cys)not specified [RCV004901554]uncertain significance168917184589171845Humanname
13446120CV438027single nucleotide variantNM_004933.3(CDH15):c.132G>T (p.Arg44=)not provided [RCV000513302]likely benign|conflicting interpretations of pathogenicity|uncertain significance168917950589179505Humanname
15135748CV715203single nucleotide variantNM_004933.3(CDH15):c.231C>T (p.Ser77=)not provided [RCV000965338]benign168918022989180229Humanname
15164327CV740504single nucleotide variantNM_004933.3(CDH15):c.255C>T (p.Pro85=)not provided [RCV000903978]benign|likely benign168918025389180253Humanname
15136311CV755544single nucleotide variantNM_004933.3(CDH15):c.210G>C (p.Ser70=)not provided [RCV000920990]likely benign168918020889180208Humanname
151353216CV1326202single nucleotide variantNM_004933.3(CDH15):c.423A>G (p.Val141=)not provided [RCV001816181]likely benign168918361389183613Humanname
151353218CV1326204single nucleotide variantNM_004933.3(CDH15):c.714C>T (p.Asp238=)not provided [RCV001816183]likely benign168918747989187479Humanname
151354916CV1327983single nucleotide variantNM_004933.3(CDH15):c.402C>T (p.Asp134=)not specified [RCV001819459]likely benign168918359289183592Humanname
8659188CV134101single nucleotide variantNM_004933.3(CDH15):c.387A>G (p.Gly129=)Intellectual disability, autosomal dominant 3 [RCV002490790]|not provided [RCV000954499]|not specified [RCV000116624]benign|likely benign168918357789183577Human1name
8659190CV134103single nucleotide variantNM_004933.3(CDH15):c.615C>T (p.Asp205=)not provided [RCV000957494]|not specified [RCV000116626]benign|likely benign168918528589185285Humanname
10403767CV208310single nucleotide variantNM_004933.3(CDH15):c.669C>A (p.Val223=)not specified [RCV000193364]uncertain significance168918743489187434Humanname
155922942CV2280180single nucleotide variantNM_004933.3(CDH15):c.77G>A (p.Arg26Lys)not specified [RCV004140404]uncertain significance168917945089179450Humanname
156191162CV2356828single nucleotide variantNM_004933.3(CDH15):c.45C>G (p.Ser15Arg)not specified [RCV004202165]uncertain significance168917941889179418Humanname
401903574CV2817964single nucleotide variantNM_004933.3(CDH15):c.324C>G (p.Ala108=)not provided [RCV003419503]likely benign168918032289180322Humanname
401943760CV2840184single nucleotide variantNM_004933.3(CDH15):c.828G>C (p.Val276=)not provided [RCV003456953]likely benign168918813589188135Humanname
405263592CV3185195single nucleotide variantNM_004933.3(CDH15):c.642G>A (p.Val214=)not provided [RCV003885759]likely benign168918531289185312Humanname
408376639CV3515077single nucleotide variantNM_004933.3(CDH15):c.954C>T (p.Asn318=)CDH15-related disorder [RCV004749311]likely benign168918826189188261Humanname , trait , alternate_id
596946440CV3548260single nucleotide variantNM_004933.3(CDH15):c.98C>T (p.Pro33Leu)not provided [RCV004810085]uncertain significance168917947189179471Humanname
617153025CV4018664single nucleotide variantNM_004933.3(CDH15):c.363A>G (p.Arg121=)not specified [RCV005419356]likely benign168918355389183553Humanname
13213534CV429870single nucleotide variantNM_004933.3(CDH15):c.633C>A (p.Ile211=)not specified [RCV000500128]likely benign168918530389185303Humanname
15199289CV726934single nucleotide variantNM_004933.3(CDH15):c.834G>T (p.Val278=)not provided [RCV000890594]likely benign168918814189188141Humanname
42722854CV985344deletionNM_004933.3(CDH15):c.100del (p.Trp34fs)Intellectual disability, autosomal dominant 3 [RCV005225574]|not specified [RCV002247063]pathogenic|uncertain significance168917947389179473Human1name
150520820CV1289922single nucleotide variantNM_004933.3(CDH15):c.131G>A (p.Arg44Gln)not provided [RCV001730298]|not specified [RCV005308496]benign|uncertain significance168917950489179504Humanname
151354637CV1327704single nucleotide variantNM_004933.3(CDH15):c.1920G>A (p.Leu640=)not provided [RCV003426204]|not specified [RCV001819179]likely benign168919353489193534Humanname
151355424CV1328491single nucleotide variantNM_004933.3(CDH15):c.280G>A (p.Val94Ile)not specified [RCV001820496]uncertain significance168918027889180278Humanname
8659239CV134089single nucleotide variantNM_004933.3(CDH15):c.227G>A (p.Gly76Asp)not provided [RCV000116612]uncertain significance168918022589180225Humanname
8659238CV134090single nucleotide variantNM_004933.3(CDH15):c.1023G>A (p.Ser341=)Intellectual disability, autosomal dominant 3 [RCV001554478]|not provided [RCV001534848]|not specified [RCV000116613]benign|likely benign168919028789190287Human1name
8659237CV134091single nucleotide variantNM_004933.3(CDH15):c.109G>T (p.Ala37Ser)not provided [RCV001725123]|not specified [RCV000116614]benign|likely benign168917948289179482Human1name
8659237CV134091single nucleotide variantNM_004933.3(CDH15):c.109G>T (p.Ala37Ser)not provided [RCV001725123]|not specified [RCV000116614]benign|likely benign168917948289179483Human1name
8659232CV134096single nucleotide variantNM_004933.3(CDH15):c.1971A>G (p.Gln657=)Intellectual disability, autosomal dominant 3 [RCV001554480]|not provided [RCV001675617]|not specified [RCV000116619]benign|likely benign168919358589193585Human1name
8659186CV134097single nucleotide variantNM_004933.3(CDH15):c.2025G>A (p.Pro675=)not provided [RCV000955214]|not specified [RCV000116620]benign|likely benign168919378789193787Humanname
155953256CV1936190single nucleotide variantNM_004933.3(CDH15):c.1383G>A (p.Gln461=)not provided [RCV002511847]likely benign168919166289191662Humanname
10404369CV208309single nucleotide variantNM_004933.3(CDH15):c.107G>A (p.Arg36Gln)CDH15-related disorder [RCV003422093]|not specified [RCV000194905]likely benign|uncertain significance168917948089179480Human1name , trait , alternate_id
10403941CV208312single nucleotide variantNM_004933.3(CDH15):c.1722T>G (p.Pro574=)not specified [RCV000193796]uncertain significance168919231189192311Humanname
156375270CV2213559single nucleotide variantNM_004933.3(CDH15):c.179G>A (p.Arg60His)not specified [RCV004087512]uncertain significance168917955289179552Humanname
155978575CV2339948single nucleotide variantNM_004933.3(CDH15):c.127G>A (p.Val43Met)not specified [RCV004192211]uncertain significance168917950089179500Humanname
329373446CV2452400single nucleotide variantNM_004933.3(CDH15):c.223C>A (p.Leu75Met)not specified [RCV004273017]uncertain significance168918022189180221Humanname
401731790CV2674482single nucleotide variantNM_004933.3(CDH15):c.152C>T (p.Pro51Leu)not specified [RCV004291376]uncertain significance168917952589179525Humanname
401768345CV2675259single nucleotide variantNM_004933.3(CDH15):c.275G>T (p.Arg92Leu)not specified [RCV004290026]uncertain significance168918027389180273Humanname
401829380CV2743771single nucleotide variantNM_004933.3(CDH15):c.2247G>A (p.Leu749=)not provided [RCV003326947]likely benign168919495789194957Humanname
401860372CV2752227single nucleotide variantNM_004933.3(CDH15):c.160G>T (p.Val54Leu)Intellectual disability, autosomal dominant 1 [RCV003336632]uncertain significance168917953389179533Human1name
401864522CV2760942single nucleotide variantNM_004933.3(CDH15):c.130C>T (p.Arg44Trp)Intellectual disability [RCV005356409]|not specified [RCV004336574]likely benign|uncertain significance168917950389179503Human2name
401931249CV2800688single nucleotide variantNM_004933.3(CDH15):c.277G>A (p.Gly93Ser)CDH15-related disorder [RCV003391280]uncertain significance168918027589180275Humanname , trait , alternate_id
401903577CV2817973single nucleotide variantNM_004933.3(CDH15):c.1089C>T (p.Arg363=)not provided [RCV003419505]likely benign168919035389190353Humanname
401903578CV2817974single nucleotide variantNM_004933.3(CDH15):c.1236C>T (p.Tyr412=)not provided [RCV003419506]likely benign168919133389191333Humanname
401911962CV2817976single nucleotide variantNM_004933.3(CDH15):c.1464G>C (p.Pro488=)not provided [RCV003426917]likely benign168919174389191743Humanname
401911965CV2817978single nucleotide variantNM_004933.3(CDH15):c.1728C>T (p.Asn576=)not provided [RCV003426919]likely benign168919231789192317Humanname
401935582CV2817982single nucleotide variantNM_004933.3(CDH15):c.1908C>A (p.Gly636=)not provided [RCV003413039]likely benign168919352289193522Humanname
401911966CV2817983single nucleotide variantNM_004933.3(CDH15):c.1923C>T (p.His641=)not provided [RCV003426920]likely benign168919353789193537Humanname
401903580CV2817984single nucleotide variantNM_004933.3(CDH15):c.1977C>G (p.Gly659=)not provided [RCV003419507]likely benign168919359189193591Humanname
401911969CV2817988single nucleotide variantNM_004933.3(CDH15):c.2226C>T (p.Asp742=)not provided [RCV003426922]likely benign168919493689194936Humanname
405266347CV3186620single nucleotide variantNM_004933.3(CDH15):c.1431C>T (p.Asn477=)not provided [RCV003886701]likely benign168919171089191710Humanname
405284932CV3190951single nucleotide variantNM_004933.3(CDH15):c.1851G>A (p.Leu617=)CDH15-related disorder [RCV003909508]likely benign168919244089192440Humanname , trait , alternate_id
405280501CV3195554single nucleotide variantNM_004933.3(CDH15):c.1980G>C (p.Gly660=)CDH15-related disorder [RCV003906799]likely benign168919359489193594Humanname , trait , alternate_id
405258361CV3203648single nucleotide variantNM_004933.3(CDH15):c.1653C>T (p.Pro551=)CDH15-related disorder [RCV003941843]likely benign168919224289192242Humanname , trait , alternate_id
405258159CV3208207single nucleotide variantNM_004933.3(CDH15):c.1665C>T (p.His555=)CDH15-related disorder [RCV003941645]likely benign168919225489192254Humanname , trait , alternate_id
405272627CV3210141single nucleotide variantNM_004933.3(CDH15):c.1989C>T (p.Asp663=)CDH15-related disorder [RCV003914389]likely benign168919360389193603Humanname , trait , alternate_id
405285488CV3212573single nucleotide variantNM_004933.3(CDH15):c.2436G>A (p.Arg812=)CDH15-related disorder [RCV003959144]likely benign168919514689195146Humanname , trait , alternate_id
405278137CV3216467single nucleotide variantNM_004933.3(CDH15):c.1338C>T (p.Gly446=)CDH15-related disorder [RCV003954399]likely benign168919143589191435Humanname , trait , alternate_id
8600664CV32681single nucleotide variantNM_004933.3(CDH15):c.178C>T (p.Arg60Cys)Intellectual disability, autosomal dominant 3 [RCV000019209]|not provided [RCV000881058]pathogenic|likely benign168917955189179551Human1name
8600665CV32682single nucleotide variantNM_004933.3(CDH15):c.274C>T (p.Arg92Trp)Intellectual disability, autosomal dominant 3 [RCV000019210]|not specified [RCV000502940]pathogenic|uncertain significance168918027289180272Human1name
405719664CV3296417single nucleotide variantNM_004933.3(CDH15):c.110C>T (p.Ala37Val)not specified [RCV004427966]uncertain significance168917948389179483Humanname
405866720CV3401128single nucleotide variantNM_004933.3(CDH15):c.274C>G (p.Arg92Gly)Intellectual disability, autosomal dominant 3 [RCV004577244]uncertain significance168918027289180272Human1name
408377829CV3500843single nucleotide variantNM_004933.3(CDH15):c.1420C>T (p.Leu474=)not provided [RCV004722493]likely benign168919169989191699Humanname
596942848CV3544222single nucleotide variantNM_004933.3(CDH15):c.1230C>G (p.Leu410=)not specified [RCV004800215]uncertain significance168919049489190494Humanname
597788747CV3645202single nucleotide variantNM_004933.3(CDH15):c.275G>A (p.Arg92Gln)not specified [RCV004901561]uncertain significance168918027389180273Humanname
598125666CV3885664single nucleotide variantNM_004933.3(CDH15):c.2025G>T (p.Pro675=)not specified [RCV005241177]likely benign168919378789193787Humanname
13216888CV429875single nucleotide variantNM_004933.3(CDH15):c.1680G>T (p.Leu560=)CDH15-related disorder [RCV003962370]|not provided [RCV000996388]|not specified [RCV000504320]likely benign|uncertain significance168919226989192269Human1name , trait , alternate_id
13214202CV429877single nucleotide variantNM_004933.3(CDH15):c.1849C>T (p.Leu617=)not provided [RCV001815396]|not specified [RCV000500974]likely benign168919243889192438Humanname
13217048CV429881single nucleotide variantNM_004933.3(CDH15):c.2319C>T (p.Phe773=)not provided [RCV003424056]|not specified [RCV000504526]likely benign168919502989195029Humanname
15168577CV715204single nucleotide variantNM_004933.3(CDH15):c.1320G>A (p.Ala440=)not provided [RCV000971642]|not specified [RCV001819116]likely benign168919141789191417Humanname
15164460CV715205single nucleotide variantNM_004933.3(CDH15):c.1410C>T (p.Ser470=)CDH15-related disorder [RCV003905999]|not provided [RCV000970724]benign|likely benign168919168989191689Human1name , trait , alternate_id
15197964CV726935single nucleotide variantNM_004933.3(CDH15):c.1095T>C (p.His365=)CDH15-related disorder [RCV003950381]|not provided [RCV000890218]benign|likely benign168919035989190359Human1name , trait , alternate_id
15106566CV755543single nucleotide variantNM_004933.3(CDH15):c.160G>A (p.Val54Ile)Intellectual disability [RCV005359660]|not provided [RCV000915779]likely benign|uncertain significance168917953389179533Human2name
15154210CV755545single nucleotide variantNM_004933.3(CDH15):c.1119C>T (p.Pro373=)not provided [RCV000924213]likely benign168919038389190383Humanname
15121588CV771199single nucleotide variantNM_004933.3(CDH15):c.1512C>A (p.Gly504=)not provided [RCV000940550]likely benign168919179189191791Humanname
15122474CV771200single nucleotide variantNM_004933.3(CDH15):c.2145C>T (p.Ile715=)not provided [RCV000940690]likely benign168919390789193907Humanname
28900325CV860312single nucleotide variantNM_004933.3(CDH15):c.127G>T (p.Val43Leu)Intellectual disability, autosomal dominant 3 [RCV005012550]|not provided [RCV001093043]|not specified [RCV004031992]uncertain significance168917950089179500Human1name
126740003CV1018186deletionNM_004933.3(CDH15):c.1748del (p.Gly583fs)Mental retardation, autosomal dominant 3 [RCV001329333]pathogenic168919233689192336Humanname
126743362CV1021553single nucleotide variantNM_004933.3(CDH15):c.472A>G (p.Thr158Ala)Intellectual disability, autosomal dominant 3 [RCV001336754]|not specified [RCV004035814]uncertain significance168918366289183662Human1name
126743366CV1021554single nucleotide variantNM_004933.3(CDH15):c.658C>T (p.Arg220Cys)Intellectual disability, autosomal dominant 3 [RCV001336755]uncertain significance168918532889185328Human1name
126912641CV1038490single nucleotide variantNM_004933.3(CDH15):c.934C>T (p.Arg312Cys)not provided [RCV001356695]|not specified [RCV004034469]uncertain significance168918824189188241Humanname
127261683CV1087390single nucleotide variantNM_004933.3(CDH15):c.607A>T (p.Ser203Cys)Intellectual disability, autosomal dominant 3 [RCV001420583]uncertain significance168918527789185277Human1name
150338142CV1173819deletionNM_004933.3(CDH15):c.1316del (p.Pro439fs)not provided [RCV001542077]uncertain significance168919141189191411Humanname
150528871CV1288539single nucleotide variantNM_004933.3(CDH15):c.737C>T (p.Ala246Val)not provided [RCV001727007]|not specified [RCV004040000]likely benign|uncertain significance168918750289187502Humanname
150543094CV1309322single nucleotide variantNM_004933.3(CDH15):c.328C>A (p.Leu110Met)not provided [RCV003238395]uncertain significance168918032689180326Humanname
151353217CV1326203single nucleotide variantNM_004933.3(CDH15):c.550A>T (p.Thr184Ser)not provided [RCV001816182]uncertain significance168918522089185220Humanname
151354126CV1327678single nucleotide variantNM_004933.3(CDH15):c.938C>G (p.Thr313Arg)not specified [RCV001817622]likely benign168918824589188245Humanname
8659189CV134102single nucleotide variantNM_004933.3(CDH15):c.598G>A (p.Glu200Lys)not provided [RCV003421995]|not specified [RCV000116625]benign|conflicting interpretations of pathogenicity|uncertain significance168918526889185268Human1name
8659189CV134102single nucleotide variantNM_004933.3(CDH15):c.598G>A (p.Glu200Lys)not provided [RCV003421995]|not specified [RCV000116625]benign|conflicting interpretations of pathogenicity|uncertain significance168918526889185269Human1name
8659191CV134104single nucleotide variantNM_004933.3(CDH15):c.671C>T (p.Ala224Val)not provided [RCV000116627]uncertain significance168918743689187436Humanname
8659192CV134105single nucleotide variantNM_004933.3(CDH15):c.718C>T (p.Leu240Phe)not provided [RCV000426575]|not specified [RCV000116628]benign|uncertain significance168918748389187483Humanname
8659193CV134106single nucleotide variantNM_004933.3(CDH15):c.782C>A (p.Thr261Asn)not provided [RCV000116629]uncertain significance168918754789187547Humanname
8659194CV134107single nucleotide variantNM_004933.3(CDH15):c.788A>G (p.Asp263Gly)not provided [RCV000116630]uncertain significance168918755389187553Humanname
152979426CV1675555single nucleotide variantNM_004933.3(CDH15):c.479G>T (p.Arg160Leu)Intellectual disability, autosomal dominant 3 [RCV002244145]uncertain significance168918366989183669Human1name
153000411CV1683023single nucleotide variantNM_004933.3(CDH15):c.683T>A (p.Leu228Gln)See cases [RCV002253033]uncertain significance168918744889187448Humanname
156107897CV2214287single nucleotide variantNM_004933.3(CDH15):c.551C>G (p.Thr184Arg)not specified [RCV004086278]uncertain significance168918522189185221Humanname
156120990CV2226982single nucleotide variantNM_004933.3(CDH15):c.841C>G (p.Leu281Val)not specified [RCV004097376]uncertain significance168918814889188148Humanname
155927924CV2227417single nucleotide variantNM_004933.3(CDH15):c.838C>T (p.Arg280Cys)not specified [RCV004092082]uncertain significance168918814589188145Humanname
156157292CV2235251single nucleotide variantNM_004933.3(CDH15):c.959G>C (p.Gly320Ala)not specified [RCV004107298]uncertain significance168918826689188266Humanname
156071679CV2254933single nucleotide variantNM_004933.3(CDH15):c.742A>G (p.Ile248Val)not specified [RCV004117170]uncertain significance168918750789187507Humanname
156180103CV2258408single nucleotide variantNM_004933.3(CDH15):c.549G>T (p.Glu183Asp)not specified [RCV004115611]likely benign168918521989185219Humanname
156271559CV2286421single nucleotide variantNM_004933.3(CDH15):c.563C>T (p.Ala188Val)not specified [RCV004139942]uncertain significance168918523389185233Humanname
156271904CV2286489single nucleotide variantNM_004933.3(CDH15):c.364G>C (p.Ala122Pro)not specified [RCV004139994]uncertain significance168918355489183554Humanname
156259723CV2304989single nucleotide variantNM_004933.3(CDH15):c.543C>A (p.Asp181Glu)not specified [RCV004168884]uncertain significance168918521389185213Humanname
155931049CV2361326single nucleotide variantNM_004933.3(CDH15):c.613G>A (p.Asp205Asn)not specified [RCV004218534]uncertain significance168918528389185283Humanname
243054980CV2409834duplicationNM_004933.3(CDH15):c.1590dup (p.Asn531fs)not provided [RCV003144755]uncertain significance168919186789191868Humanname
243054988CV2409836duplicationNM_004933.3(CDH15):c.1017dup (p.Val340fs)not provided [RCV003144757]uncertain significance168919027889190279Humanname
243054992CV2409837single nucleotide variantNM_004933.3(CDH15):c.481G>T (p.Val161Leu)not provided [RCV003144758]uncertain significance168918367189183671Humanname
329390618CV2437134single nucleotide variantNM_004933.3(CDH15):c.872C>T (p.Ser291Phe)not specified [RCV004262941]uncertain significance168918817989188179Humanname
329373172CV2439307single nucleotide variantNM_004933.3(CDH15):c.634C>T (p.Arg212Cys)not specified [RCV004249617]uncertain significance168918530489185304Humanname
329376750CV2460475single nucleotide variantNM_004933.3(CDH15):c.334C>T (p.Arg112Cys)not specified [RCV004268769]uncertain significance168918033289180332Humanname
11638652CV264649single nucleotide variantNM_004933.3(CDH15):c.445C>T (p.Arg149Trp)not provided [RCV000307600]|not specified [RCV004021056]uncertain significance168918363589183635Humanname
401761127CV2706227single nucleotide variantNM_004933.3(CDH15):c.461A>G (p.Gln154Arg)not specified [RCV004314897]uncertain significance168918365189183651Humanname
401880572CV2780020single nucleotide variantNM_004933.3(CDH15):c.920G>T (p.Gly307Val)not specified [RCV004355691]uncertain significance168918822789188227Humanname
401885599CV2783344single nucleotide variantNM_004933.3(CDH15):c.628G>C (p.Glu210Gln)not specified [RCV004365707]uncertain significance168918529889185298Humanname
401911921CV2795941duplicationNM_004933.3(CDH15):c.1796dup (p.Thr600fs)CDH15-related disorder [RCV003399677]uncertain significance168919237989192380Humanname , trait , alternate_id
401912791CV2800822single nucleotide variantNM_004933.3(CDH15):c.404C>A (p.Pro135His)CDH15-related disorder [RCV003399968]uncertain significance168918359489183594Humanname , trait , alternate_id
401913059CV2801559single nucleotide variantNM_004933.3(CDH15):c.520G>T (p.Ala174Ser)CDH15-related disorder [RCV003400051]uncertain significance168918519089185190Humanname , trait , alternate_id
401911954CV2817965single nucleotide variantNM_004933.3(CDH15):c.563C>A (p.Ala188Glu)not provided [RCV003426911]uncertain significance168918523389185233Humanname
401911955CV2817966single nucleotide variantNM_004933.3(CDH15):c.598G>C (p.Glu200Gln)not provided [RCV003426912]uncertain significance168918526889185268Humanname
401911957CV2817967single nucleotide variantNM_004933.3(CDH15):c.823G>A (p.Gly275Arg)not provided [RCV003426913]likely benign168918813089188130Humanname
401911958CV2817968single nucleotide variantNM_004933.3(CDH15):c.890G>A (p.Arg297Lys)not provided [RCV003426914]likely benign168918819789188197Humanname
401903576CV2817969single nucleotide variantNM_004933.3(CDH15):c.935G>T (p.Arg312Leu)not provided [RCV003419504]likely benign168918824289188242Humanname
401935579CV2817970single nucleotide variantNM_004933.3(CDH15):c.938C>T (p.Thr313Met)not provided [RCV003413036]likely benign168918824589188245Humanname
401911959CV2817971single nucleotide variantNM_004933.3(CDH15):c.962T>G (p.Val321Gly)not provided [RCV003426915]uncertain significance168918826989188269Humanname
405269944CV3187551single nucleotide variantNM_004933.3(CDH15):c.487G>C (p.Glu163Gln)not provided [RCV003887635]uncertain significance168918367789183677Humanname
8600666CV32683single nucleotide variantNM_004933.3(CDH15):c.365C>T (p.Ala122Val)CDH15-related disorder [RCV003964805]|Intellectual disability, autosomal dominant 3 [RCV000019211]|not provided [RCV000965339]pathogenic|likely benign168918355589183555Human1name , trait , alternate_id
405719775CV3296431single nucleotide variantNM_004933.3(CDH15):c.379C>G (p.Leu127Val)not specified [RCV004427980]uncertain significance168918356989183569Humanname
405719792CV3296433single nucleotide variantNM_004933.3(CDH15):c.479G>A (p.Arg160His)not specified [RCV004427982]likely benign168918366989183669Humanname
407454775CV3422195single nucleotide variantNM_004933.3(CDH15):c.320A>G (p.Asn107Ser)not specified [RCV004609986]uncertain significance168918031889180318Humanname
407454786CV3422199single nucleotide variantNM_004933.3(CDH15):c.679A>C (p.Asn227His)not specified [RCV004609990]uncertain significance168918744489187444Humanname
408377158CV3507471single nucleotide variantNM_004933.3(CDH15):c.555C>G (p.Asp185Glu)CDH15-related disorder [RCV004750538]uncertain significance168918522589185225Humanname , trait , alternate_id
596948252CV3549333single nucleotide variantNM_004933.3(CDH15):c.311T>C (p.Val104Ala)not provided [RCV004812153]likely benign168918030989180309Humanname
596938251CV3550055single nucleotide variantNM_004933.3(CDH15):c.955G>A (p.Glu319Lys)von Willebrand disease type 1 [RCV004813360]uncertain significance168918826289188262Human1name
596946219CV3550481deletionNM_004933.3(CDH15):c.2095del (p.Gln699fs)Intellectual disability, autosomal dominant 3 [RCV004819022]uncertain significance168919385389193853Human1name
597788728CV3645196single nucleotide variantNM_004933.3(CDH15):c.407C>T (p.Thr136Met)not specified [RCV004901556]uncertain significance168918359789183597Humanname
597788732CV3645197single nucleotide variantNM_004933.3(CDH15):c.478C>T (p.Arg160Cys)not specified [RCV004901557]uncertain significance168918366889183668Humanname
598168468CV3947299single nucleotide variantNM_004933.3(CDH15):c.569G>A (p.Arg190Gln)not specified [RCV005308253]uncertain significance168918523989185239Humanname
598168481CV3947301single nucleotide variantNM_004933.3(CDH15):c.698C>T (p.Ala233Val)not specified [RCV005308255]uncertain significance168918746389187463Humanname
598168489CV3947302single nucleotide variantNM_004933.3(CDH15):c.518G>A (p.Arg173Lys)not specified [RCV005308256]uncertain significance168918518889185188Humanname
598229568CV3947307single nucleotide variantNM_004933.3(CDH15):c.856A>G (p.Arg286Gly)not specified [RCV005319248]uncertain significance168918816389188163Humanname
598168526CV3947309single nucleotide variantNM_004933.3(CDH15):c.509A>T (p.Tyr170Phe)not specified [RCV005308262]uncertain significance168918517989185179Humanname
598168532CV3947310single nucleotide variantNM_004933.3(CDH15):c.703A>G (p.Met235Val)not specified [RCV005308263]uncertain significance168918746889187468Humanname
12898944CV409786deletionNM_004933.3(CDH15):c.1588del (p.Arg530fs)not provided [RCV000479058]uncertain significance168919186689191866Humanname
13213395CV429869single nucleotide variantNM_004933.3(CDH15):c.616G>A (p.Glu206Lys)not specified [RCV000499893]likely benign|conflicting interpretations of pathogenicity168918528689185286Humanname
13214798CV429871single nucleotide variantNM_004933.3(CDH15):c.970A>G (p.Ile324Val)not specified [RCV000501688]uncertain significance168918827789188277Humanname
13474381CV445663single nucleotide variantNM_004933.3(CDH15):c.641T>G (p.Val214Gly)not provided [RCV000519633]uncertain significance168918531189185311Humanname
21072900CV791652single nucleotide variantNM_004933.3(CDH15):c.568C>T (p.Arg190Trp)Intellectual disability, autosomal dominant 3 [RCV000989655]|not provided [RCV003424521]|not specified [RCV004030117]likely benign|uncertain significance168918523889185238Human1name
21072901CV791653single nucleotide variantNM_004933.3(CDH15):c.767A>T (p.Asn256Ile)Intellectual disability, autosomal dominant 3 [RCV000989656]likely benign168918753289187532Human1name
21075475CV797444single nucleotide variantNM_004933.3(CDH15):c.541G>A (p.Asp181Asn)not provided [RCV000996386]uncertain significance168918521189185211Humanname
126773042CV1012487single nucleotide variantNM_004933.3(CDH15):c.1075C>T (p.Gln359Ter)not provided [RCV001324097]uncertain significance168919033989190339Humanname
126739996CV1018184single nucleotide variantNM_004933.3(CDH15):c.1039C>T (p.Pro347Ser)Intellectual disability, autosomal dominant 3 [RCV001329331]|not provided [RCV003405555]uncertain significance168919030389190303Human1name
126739999CV1018185single nucleotide variantNM_004933.3(CDH15):c.1540G>A (p.Gly514Arg)Intellectual disability, autosomal dominant 3 [RCV001329332]uncertain significance168919181989191819Human1name
126743357CV1021557single nucleotide variantNM_004933.3(CDH15):c.1742G>A (p.Arg581His)Intellectual disability, autosomal dominant 3 [RCV001336753]uncertain significance168919233189192331Human1name
150453296CV1203772single nucleotide variantNM_004933.3(CDH15):c.2218G>C (p.Glu740Gln)Intellectual disability, autosomal dominant 3 [RCV001591728]uncertain significance168919492889194928Human1name
150528873CV1288540single nucleotide variantNM_004933.3(CDH15):c.1572G>T (p.Arg524Ser)not provided [RCV001727008]|not specified [RCV004040001]uncertain significance168919185189191851Humanname
150543095CV1309323single nucleotide variantNM_004933.3(CDH15):c.2038C>G (p.Leu680Val)not provided [RCV003238396]uncertain significance168919380089193800Humanname
151353939CV1327491single nucleotide variantNM_004933.3(CDH15):c.1387C>T (p.Arg463Cys)not specified [RCV001817435]likely benign168919166689191666Humanname
151356482CV1329246single nucleotide variantNM_004933.3(CDH15):c.1748G>A (p.Gly583Asp)not specified [RCV001822835]likely benign168919233789192337Humanname
151354135CV1329268single nucleotide variantNM_004933.3(CDH15):c.1162G>A (p.Ala388Thr)not specified [RCV001817631]uncertain significance168919042689190426Humanname
151662424CV1333104single nucleotide variantNM_004933.3(CDH15):c.2071G>T (p.Ala691Ser)Intellectual disability, autosomal dominant 3 [RCV001837337]uncertain significance168919383389193833Human1name
8659233CV134095single nucleotide variantNM_004933.3(CDH15):c.1750A>C (p.Lys584Gln)Intellectual disability, autosomal dominant 3 [RCV001554479]|not provided [RCV001675616]|not specified [RCV000116618]benign168919233989192339Human1name
8659231CV134098single nucleotide variantNM_004933.3(CDH15):c.2353G>A (p.Gly785Arg)not provided [RCV000903216]|not specified [RCV000116621]benign|likely benign168919506389195063Humanname
8659230CV134099single nucleotide variantNM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter)Intellectual disability [RCV001252188]|not provided [RCV004709249]|not specified [RCV000116622]benign|likely benign168919507489195074Human3name
8659230CV134099single nucleotide variantNM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter)Intellectual disability [RCV001252188]|not provided [RCV004709249]|not specified [RCV000116622]benign|likely benign168919507489195075Human3name
152080825CV1667030single nucleotide variantNM_004933.3(CDH15):c.1004A>G (p.His335Arg)not provided [RCV002211375]uncertain significance168919026889190268Humanname
155265332CV1695525single nucleotide variantNM_004933.3(CDH15):c.1451C>T (p.Ala484Val)not provided [RCV002280257]uncertain significance168919173089191730Humanname
10404344CV208313single nucleotide variantNM_004933.3(CDH15):c.1912G>C (p.Gly638Arg)not specified [RCV000194851]uncertain significance168919352689193526Humanname
10403572CV208314single nucleotide variantNM_004933.3(CDH15):c.2146A>G (p.Asn716Asp)not specified [RCV000192870]benign|conflicting interpretations of pathogenicity|uncertain significance168919390889193908Humanname
10403993CV208315single nucleotide variantNM_004933.3(CDH15):c.2159A>C (p.Glu720Ala)not specified [RCV000193921]likely benign168919486989194869Humanname
10404384CV208316single nucleotide variantNM_004933.3(CDH15):c.2226C>A (p.Asp742Glu)not specified [RCV000194940]likely benign168919493689194936Humanname
10450192CV215523single nucleotide variantNM_004933.3(CDH15):c.2102C>A (p.Pro701His)not specified [RCV000203071]uncertain significance168919386489193864Humanname
156243145CV2262232single nucleotide variantNM_004933.3(CDH15):c.1685G>A (p.Arg562Gln)not specified [RCV004128446]likely benign168919227489192274Humanname
156257396CV2264872single nucleotide variantNM_004933.3(CDH15):c.2113C>A (p.Pro705Thr)not specified [RCV004134624]uncertain significance168919387589193875Humanname
156080844CV2301036single nucleotide variantNM_004933.3(CDH15):c.1933G>A (p.Asp645Asn)not specified [RCV004158189]uncertain significance168919354789193547Humanname
156101323CV2313476single nucleotide variantNM_004933.3(CDH15):c.2048G>A (p.Gly683Glu)not specified [RCV004163786]uncertain significance168919381089193810Humanname
156174430CV2326923single nucleotide variantNM_004933.3(CDH15):c.1315C>G (p.Pro439Ala)not specified [RCV004176737]uncertain significance168919141289191412Humanname
156174234CV2326924single nucleotide variantNM_004933.3(CDH15):c.1340G>A (p.Gly447Asp)not specified [RCV004176738]uncertain significance168919143789191437Humanname
156353533CV2327554single nucleotide variantNM_004933.3(CDH15):c.2083C>A (p.Arg695Ser)not specified [RCV004176855]uncertain significance168919384589193845Humanname
155989832CV2352281single nucleotide variantNM_004933.3(CDH15):c.1163C>T (p.Ala388Val)not specified [RCV004200756]uncertain significance168919042789190427Humanname
156170947CV2354921single nucleotide variantNM_004933.3(CDH15):c.2096A>C (p.Gln699Pro)not specified [RCV004191416]uncertain significance168919385889193858Humanname
156258318CV2366059single nucleotide variantNM_004933.3(CDH15):c.1729G>C (p.Val577Leu)not specified [RCV004210103]uncertain significance168919231889192318Humanname
156345771CV2372980single nucleotide variantNM_004933.3(CDH15):c.2097G>C (p.Gln699His)not specified [RCV004224014]uncertain significance168919385989193859Humanname
156391357CV2385300single nucleotide variantNM_004933.3(CDH15):c.1090G>C (p.Val364Leu)not specified [RCV004230583]uncertain significance168919035489190354Humanname
156101475CV2386790single nucleotide variantNM_004933.3(CDH15):c.1460C>G (p.Pro487Arg)not specified [RCV004233446]uncertain significance168919173989191739Humanname
243054999CV2407210single nucleotide variantNM_004933.3(CDH15):c.1435C>T (p.His479Tyr)not provided [RCV003144760]uncertain significance168919171489191714Humanname
243054984CV2409835single nucleotide variantNM_004933.3(CDH15):c.2272G>A (p.Asp758Asn)not provided [RCV003144756]uncertain significance168919498289194982Humanname
329386546CV2428256single nucleotide variantNM_004933.3(CDH15):c.2018G>A (p.Arg673His)not specified [RCV004251285]uncertain significance168919378089193780Humanname
329379082CV2443288single nucleotide variantNM_004933.3(CDH15):c.1305C>G (p.His435Gln)not provided [RCV003326680]|not specified [RCV004260090]likely benign|uncertain significance168919140289191402Humanname
329386872CV2452629single nucleotide variantNM_004933.3(CDH15):c.1997C>A (p.Ala666Asp)not specified [RCV004275203]uncertain significance168919375989193759Humanname
11642116CV264651single nucleotide variantNM_004933.3(CDH15):c.2231C>T (p.Ser744Leu)not provided [RCV000369334]uncertain significance168919494189194941Humanname
401739127CV2673228single nucleotide variantNM_004933.3(CDH15):c.1840G>A (p.Ala614Thr)not specified [RCV004286035]uncertain significance168919242989192429Humanname
401771301CV2675539single nucleotide variantNM_004933.3(CDH15):c.1021T>C (p.Ser341Pro)not specified [RCV004295155]uncertain significance168919028589190285Humanname
401739229CV2676461single nucleotide variantNM_004933.3(CDH15):c.1288C>T (p.Arg430Trp)not specified [RCV004286476]uncertain significance168919138589191385Humanname
401730741CV2677328single nucleotide variantNM_004933.3(CDH15):c.1258G>C (p.Asp420His)not specified [RCV004295944]uncertain significance168919135589191355Humanname
401727932CV2678591single nucleotide variantNM_004933.3(CDH15):c.1603A>G (p.Ser535Gly)not specified [RCV004292597]uncertain significance168919188289191882Humanname
401741028CV2679859single nucleotide variantNM_004933.3(CDH15):c.1276G>A (p.Ala426Thr)not specified [RCV004282313]uncertain significance168919137389191373Humanname
401729646CV2683750single nucleotide variantNM_004933.3(CDH15):c.1289G>A (p.Arg430Gln)not specified [RCV004284488]uncertain significance168919138689191386Humanname
401739662CV2684135single nucleotide variantNM_004933.3(CDH15):c.1906G>A (p.Gly636Ser)not specified [RCV004288811]uncertain significance168919352089193520Humanname
401757868CV2685605single nucleotide variantNM_004933.3(CDH15):c.1025T>C (p.Val342Ala)not specified [RCV004294615]uncertain significance168919028989190289Humanname
401772936CV2698036single nucleotide variantNM_004933.3(CDH15):c.1644C>G (p.His548Gln)not specified [RCV004302837]uncertain significance168919223389192233Humanname
401772869CV2708995single nucleotide variantNM_004933.3(CDH15):c.2435G>A (p.Arg812Gln)not specified [RCV004314353]likely benign168919514589195145Humanname
401761987CV2713970single nucleotide variantNM_004933.3(CDH15):c.2051C>A (p.Pro684Gln)not specified [RCV004315385]uncertain significance168919381389193813Humanname
401753690CV2716853single nucleotide variantNM_004933.3(CDH15):c.1904G>C (p.Arg635Pro)not specified [RCV004329979]uncertain significance168919351889193518Humanname
401864112CV2767480single nucleotide variantNM_004933.3(CDH15):c.1009G>A (p.Glu337Lys)Intellectual disability [RCV005356413]|not specified [RCV004343644]likely benign|uncertain significance168919027389190273Human2name
401862534CV2768328single nucleotide variantNM_004933.3(CDH15):c.1649T>C (p.Val550Ala)not specified [RCV004350593]uncertain significance168919223889192238Humanname
401870108CV2772620single nucleotide variantNM_004933.3(CDH15):c.1517C>T (p.Thr506Met)not specified [RCV004355370]uncertain significance168919179689191796Humanname
401896561CV2782215single nucleotide variantNM_004933.3(CDH15):c.1246T>C (p.Tyr416His)not specified [RCV004359187]uncertain significance168919134389191343Humanname
401899231CV2783759single nucleotide variantNM_004933.3(CDH15):c.2074C>A (p.Pro692Thr)not specified [RCV004360677]uncertain significance168919383689193836Humanname
401896749CV2788743single nucleotide variantNM_004933.3(CDH15):c.1647G>C (p.Gln549His)not specified [RCV004361214]uncertain significance168919223689192236Humanname
401872217CV2793040single nucleotide variantNM_004933.3(CDH15):c.1989C>A (p.Asp663Glu)not specified [RCV004360372]uncertain significance168919360389193603Humanname
401911961CV2817972single nucleotide variantNM_004933.3(CDH15):c.1040C>T (p.Pro347Leu)Intellectual disability, autosomal dominant 3 [RCV005012955]|not provided [RCV003426916]uncertain significance168919030489190304Human1name
401911963CV2817977single nucleotide variantNM_004933.3(CDH15):c.1666C>T (p.Arg556Cys)not provided [RCV003426918]benign168919225589192255Humanname
401916888CV2817979single nucleotide variantNM_004933.3(CDH15):c.1813G>C (p.Gly605Arg)not provided [RCV003429132]uncertain significance168919240289192402Humanname
401935580CV2817980single nucleotide variantNM_004933.3(CDH15):c.1827C>G (p.Ile609Met)not provided [RCV003413037]benign168919241689192416Humanname
401935581CV2817981single nucleotide variantNM_004933.3(CDH15):c.1871T>A (p.Val624Glu)not provided [RCV003413038]uncertain significance168919348589193485Humanname
401903581CV2817985single nucleotide variantNM_004933.3(CDH15):c.2054C>T (p.Pro685Leu)not provided [RCV003419508]benign168919381689193816Humanname
401935583CV2817986single nucleotide variantNM_004933.3(CDH15):c.2137G>A (p.Asp713Asn)not provided [RCV003413040]benign168919389989193899Humanname
401911967CV2817987single nucleotide variantNM_004933.3(CDH15):c.2170A>G (p.Ser724Gly)not provided [RCV003426921]uncertain significance168919488089194880Humanname
405261137CV3186070single nucleotide variantNM_004933.3(CDH15):c.1789G>A (p.Ala597Thr)not provided [RCV003885146]uncertain significance168919237889192378Humanname
405267146CV3186776single nucleotide variantNM_004933.3(CDH15):c.1409C>A (p.Ser470Tyr)not provided [RCV003886857]uncertain significance168919168889191688Humanname
405269496CV3187328single nucleotide variantNM_004933.3(CDH15):c.1930C>T (p.Gln644Ter)not provided [RCV003887412]uncertain significance168919354489193544Humanname
405719673CV3296418single nucleotide variantNM_004933.3(CDH15):c.1165C>T (p.Pro389Ser)not specified [RCV004427967]uncertain significance168919042989190429Humanname
405719683CV3296419single nucleotide variantNM_004933.3(CDH15):c.1198C>T (p.Arg400Trp)not specified [RCV004427968]likely benign168919046289190462Humanname
405719690CV3296420single nucleotide variantNM_004933.3(CDH15):c.1517C>A (p.Thr506Lys)not specified [RCV004427969]uncertain significance168919179689191796Humanname
405719698CV3296421single nucleotide variantNM_004933.3(CDH15):c.1537C>A (p.His513Asn)not provided [RCV004721808]|not specified [RCV004427970]uncertain significance168919181689191816Humanname
405719708CV3296422single nucleotide variantNM_004933.3(CDH15):c.1606C>A (p.Gln536Lys)not specified [RCV004427971]uncertain significance168919188589191885Humanname
405719716CV3296423single nucleotide variantNM_004933.3(CDH15):c.1648G>C (p.Val550Leu)not specified [RCV004427972]uncertain significance168919223789192237Humanname
405719723CV3296424single nucleotide variantNM_004933.3(CDH15):c.2039T>A (p.Leu680Gln)not specified [RCV004427973]uncertain significance168919380189193801Humanname
405719737CV3296426single nucleotide variantNM_004933.3(CDH15):c.2105G>C (p.Arg702Pro)not specified [RCV004427975]uncertain significance168919386789193867Humanname
405719745CV3296427single nucleotide variantNM_004933.3(CDH15):c.2108T>C (p.Val703Ala)not specified [RCV004427976]likely benign168919387089193870Humanname
405719751CV3296428single nucleotide variantNM_004933.3(CDH15):c.2210A>G (p.Tyr737Cys)not specified [RCV004427977]uncertain significance168919492089194920Humanname
405719759CV3296429single nucleotide variantNM_004933.3(CDH15):c.2231C>G (p.Ser744Trp)not specified [RCV004427978]uncertain significance168919494189194941Humanname
405719767CV3296430single nucleotide variantNM_004933.3(CDH15):c.2341G>T (p.Gly781Trp)not specified [RCV004427979]uncertain significance168919505189195051Humanname
407426128CV3409743single nucleotide variantNM_004933.3(CDH15):c.1160G>C (p.Gly387Ala)not provided [RCV004585675]likely benign168919042489190424Humanname
407458013CV3416280single nucleotide variantNM_004933.3(CDH15):c.1537C>T (p.His513Tyr)not provided [RCV004599158]uncertain significance168919181689191816Humanname
407454778CV3422196single nucleotide variantNM_004933.3(CDH15):c.1139T>A (p.Leu380His)not specified [RCV004609987]uncertain significance168919040389190403Humanname
407454784CV3422198single nucleotide variantNM_004933.3(CDH15):c.1747G>A (p.Gly583Ser)not specified [RCV004609989]likely benign168919233689192336Humanname
407454789CV3422200single nucleotide variantNM_004933.3(CDH15):c.1538A>T (p.His513Leu)not specified [RCV004609991]uncertain significance168919181789191817Humanname
407454792CV3422201single nucleotide variantNM_004933.3(CDH15):c.2063G>A (p.Arg688His)not specified [RCV004609992]uncertain significance168919382589193825Humanname
408380530CV3501186single nucleotide variantNM_004933.3(CDH15):c.2113C>T (p.Pro705Ser)not provided [RCV004727274]likely benign168919387589193875Humanname
596920393CV3534576single nucleotide variantNM_004933.3(CDH15):c.2434C>T (p.Arg812Trp)not specified [RCV004782137]uncertain significance168919514489195144Humanname
596924889CV3536795single nucleotide variantNM_004933.3(CDH15):c.2081G>C (p.Gly694Ala)Intellectual disability, autosomal dominant 3 [RCV004785789]uncertain significance168919384389193843Human1name
596946664CV3548493single nucleotide variantNM_004933.3(CDH15):c.1454C>G (p.Pro485Arg)not provided [RCV004810320]uncertain significance168919173389191733Humanname
596948302CV3549384single nucleotide variantNM_004933.3(CDH15):c.1714G>T (p.Glu572Ter)not provided [RCV004812204]uncertain significance168919230389192303Humanname
596946220CV3550482single nucleotide variantNM_004933.3(CDH15):c.2122C>T (p.Pro708Ser)Intellectual disability, autosomal dominant 3 [RCV004819023]uncertain significance168919388489193884Human1name
597788724CV3645195single nucleotide variantNM_004933.3(CDH15):c.1378T>C (p.Ser460Pro)not specified [RCV004901555]likely benign168919165789191657Humanname
597788735CV3645198single nucleotide variantNM_004933.3(CDH15):c.1996G>A (p.Ala666Thr)not specified [RCV004901558]uncertain significance168919375889193758Humanname
597788739CV3645199single nucleotide variantNM_004933.3(CDH15):c.2072C>G (p.Ala691Gly)not specified [RCV004901559]uncertain significance168919383489193834Humanname
597788743CV3645201single nucleotide variantNM_004933.3(CDH15):c.2333A>G (p.Asp778Gly)not specified [RCV004901560]uncertain significance168919504389195043Humanname
597788751CV3645203single nucleotide variantNM_004933.3(CDH15):c.1577C>G (p.Pro526Arg)not specified [RCV004901562]uncertain significance168919185689191856Humanname
597788755CV3645204single nucleotide variantNM_004933.3(CDH15):c.1250A>T (p.Asp417Val)not specified [RCV004901563]uncertain significance168919134789191347Humanname
597788759CV3645205single nucleotide variantNM_004933.3(CDH15):c.1463C>G (p.Pro488Arg)not specified [RCV004901564]uncertain significance168919174289191742Humanname
597788763CV3645206single nucleotide variantNM_004933.3(CDH15):c.1525G>A (p.Asp509Asn)not specified [RCV004901565]uncertain significance168919180489191804Humanname
597788766CV3645207single nucleotide variantNM_004933.3(CDH15):c.1828G>C (p.Val610Leu)not specified [RCV004901566]uncertain significance168919241789192417Humanname
597758841CV3715873single nucleotide variantNM_004933.3(CDH15):c.1741C>A (p.Arg581Ser)Intellectual disability, autosomal dominant 3 [RCV005017891]uncertain significance168919233089192330Human1name
597714219CV3715874single nucleotide variantNM_004933.3(CDH15):c.2268G>C (p.Gln756His)Intellectual disability, autosomal dominant 3 [RCV005010059]uncertain significance168919497889194978Human1name
12836840CV374742single nucleotide variantNM_004933.3(CDH15):c.2324G>A (p.Arg775Gln)not provided [RCV000896108]|not specified [RCV000424124]likely benign168919503489195034Humanname
598122660CV3884592single nucleotide variantNM_004933.3(CDH15):c.1793G>C (p.Gly598Ala)not specified [RCV005237284]uncertain significance168919238289192382Humanname
598210033CV3895017single nucleotide variantNM_004933.3(CDH15):c.1790C>T (p.Ala597Val)Intellectual disability [RCV005358477]uncertain significance168919237989192379Human2name
598229550CV3947294single nucleotide variantNM_004933.3(CDH15):c.2105G>A (p.Arg702Gln)not specified [RCV005319245]uncertain significance168919386789193867Humanname
598168455CV3947295single nucleotide variantNM_004933.3(CDH15):c.2385G>C (p.Gln795His)not specified [RCV005308251]uncertain significance168919509589195095Humanname
598229557CV3947297single nucleotide variantNM_004933.3(CDH15):c.2365G>A (p.Gly789Arg)not specified [RCV005319246]uncertain significance168919507589195075Humanname
598229562CV3947298single nucleotide variantNM_004933.3(CDH15):c.1178T>C (p.Leu393Pro)not specified [RCV005319247]likely benign168919044289190442Humanname
598168476CV3947300single nucleotide variantNM_004933.3(CDH15):c.2123C>A (p.Pro708His)not specified [RCV005308254]uncertain significance168919388589193885Humanname
598168495CV3947303single nucleotide variantNM_004933.3(CDH15):c.2012A>G (p.Gln671Arg)not specified [RCV005308257]uncertain significance168919377489193774Humanname
598168503CV3947304single nucleotide variantNM_004933.3(CDH15):c.2080G>A (p.Gly694Ser)not specified [RCV005308258]likely benign168919384289193842Humanname
598168516CV3947306single nucleotide variantNM_004933.3(CDH15):c.2089C>T (p.His697Tyr)not specified [RCV005308260]uncertain significance168919385189193851Humanname
598168519CV3947308single nucleotide variantNM_004933.3(CDH15):c.2272G>C (p.Asp758His)not specified [RCV005308261]uncertain significance168919498289194982Humanname
616933716CV4011678single nucleotide variantNM_004933.3(CDH15):c.1406T>C (p.Leu469Pro)not specified [RCV005408227]uncertain significance168919168589191685Humanname
616933868CV4011839single nucleotide variantNM_004933.3(CDH15):c.2287T>C (p.Tyr763His)not specified [RCV005408388]uncertain significance168919499789194997Humanname
12899354CV409784single nucleotide variantNM_004933.3(CDH15):c.1125C>G (p.Phe375Leu)CDH15-related disorder [RCV004722821]|not provided [RCV000480014]uncertain significance168919038989190389Human1name , trait , alternate_id
12902245CV409787single nucleotide variantNM_004933.3(CDH15):c.2167G>C (p.Asp723His)not provided [RCV000486645]uncertain significance168919487789194877Humanname
12902295CV409788single nucleotide variantNM_004933.3(CDH15):c.2227G>A (p.Gly743Ser)not provided [RCV000486762]uncertain significance168919493789194937Humanname
13215579CV429872single nucleotide variantNM_004933.3(CDH15):c.1211C>T (p.Thr404Ile)CDH15-related disorder [RCV003932822]|Intellectual disability [RCV005356020]|not specified [RCV000502559]likely benign|uncertain significance168919047589190475Human3name , trait , alternate_id
13215795CV429873single nucleotide variantNM_004933.3(CDH15):c.1454C>T (p.Pro485Leu)not provided [RCV001815397]|not specified [RCV000502825]likely benign168919173389191733Humanname
13212940CV429874single nucleotide variantNM_004933.3(CDH15):c.1531C>G (p.Pro511Ala)not provided [RCV001171790]|not specified [RCV000499396]uncertain significance168919181089191810Humanname
13214964CV429876single nucleotide variantNM_004933.3(CDH15):c.1796G>T (p.Gly599Val)not provided [RCV003144294]|not specified [RCV000501896]uncertain significance168919238589192385Humanname
13216523CV429878single nucleotide variantNM_004933.3(CDH15):c.2042C>T (p.Pro681Leu)not specified [RCV000503652]uncertain significance168919380489193804Humanname
13213759CV429879single nucleotide variantNM_004933.3(CDH15):c.2051C>T (p.Pro684Leu)not specified [RCV000500296]likely benign|uncertain significance168919381389193813Humanname
13215654CV429880single nucleotide variantNM_004933.3(CDH15):c.2237C>T (p.Ala746Val)not specified [RCV000502733]likely benign168919494789194947Humanname
13214499CV429882single nucleotide variantNM_004933.3(CDH15):c.2369C>T (p.Ala790Val)Intellectual disability, autosomal dominant 3 [RCV000755641]|not provided [RCV003409693]|not specified [RCV000501168]likely benign|conflicting interpretations of pathogenicity168919507989195079Human1name
13462861CV438608single nucleotide variantNM_004933.3(CDH15):c.1876C>T (p.Leu626Phe)not provided [RCV000514969]benign|likely benign168919349089193490Humanname
13477582CV445664single nucleotide variantNM_004933.3(CDH15):c.1582C>T (p.Leu528Phe)not provided [RCV000520436]uncertain significance168919186189191861Humanname
13476294CV445665single nucleotide variantNM_004933.3(CDH15):c.1711C>T (p.Arg571Cys)not provided [RCV000520112]uncertain significance168919230089192300Humanname
13797991CV553184single nucleotide variantNM_004933.3(CDH15):c.2288A>G (p.Tyr763Cys)Intellectual disability [RCV000681506]likely benign168919499889194998Human2name
21075476CV797445single nucleotide variantNM_004933.3(CDH15):c.1275C>G (p.Asp425Glu)not provided [RCV000996387]uncertain significance168919137289191372Humanname
25316861CV804885single nucleotide variantNM_004933.3(CDH15):c.1031A>T (p.Asn344Ile)Intellectual disability, autosomal dominant 3 [RCV001007608]uncertain significance168919029589190295Human1name
8627879CV83023single nucleotide variantNM_004933.2(CDH15):c.1325C>T (p.Pro442Leu)Malignant melanoma [RCV000063103]not provided168919142289191422Humanname
598210045CV3895019deletionNM_004933.3(CDH15):c.2215_2217del (p.Tyr739del)Intellectual disability [RCV005358479]|Intellectual disability, autosomal dominant 3 [RCV005412746]uncertain significance168919492389194925Human3name
21072902CV791654deletionNM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del)Intellectual disability, autosomal dominant 3 [RCV000989657]likely benign168919376089193765Human1name
401916584CV2817975microsatelliteNM_004933.3(CDH15):c.1453CCG[5] (p.Pro488_Gly489insPro)not provided [RCV003429131]likely benign168919173189191732Humanname
243054996CV2407209indelNM_004933.3(CDH15):c.1131_1141delinsCCTCT (p.Glu377_Arg381delinsAspLeuTrp)not provided [RCV003144759]uncertain significance168919039589190405Humanname