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


61 records found for search term Pdzd4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401921725CV2824309single nucleotide variantNM_001303512.2(PDZD4):c.42G>A (p.Gln14=)not provided [RCV003432620]likely benignX153830257153830257Humanname
401921721CV2824307single nucleotide variantNM_001303512.2(PDZD4):c.363C>T (p.Gly121=)not provided [RCV003432618]likely benignX153807321153807321Humanname
155644279CV1708541deletionNM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)Hyperactivity [RCV002291084]uncertain significanceX153830283153830289Human4name
156118946CV2354000single nucleotide variantNM_001303512.2(PDZD4):c.170G>A (p.Arg57Gln)not specified [RCV004204433]uncertain significanceX153808486153808486Humanname
156054525CV2388615single nucleotide variantNM_001303512.2(PDZD4):c.169C>T (p.Arg57Trp)not specified [RCV004239497]uncertain significanceX153808487153808487Humanname
401921719CV2824305single nucleotide variantNM_001303512.2(PDZD4):c.2214G>A (p.Arg738=)not provided [RCV003432616]likely benignX153803467153803467Humanname
401921720CV2824306single nucleotide variantNM_001303512.2(PDZD4):c.1428C>T (p.Ala476=)not provided [RCV003432617]likely benignX153804253153804253Humanname
401921723CV2824308single nucleotide variantNM_001303512.2(PDZD4):c.280A>G (p.Met94Val)not provided [RCV003432619]likely benignX153808376153808376Humanname
405789654CV3372144single nucleotide variantNM_001303512.2(PDZD4):c.263G>A (p.Arg88His)not specified [RCV004505563]uncertain significanceX153808393153808393Humanname
407463775CV3470520single nucleotide variantNM_001303512.2(PDZD4):c.154C>T (p.Arg52Cys)not specified [RCV004659778]uncertain significanceX153808502153808502Humanname
597721050CV3579287single nucleotide variantNM_001303512.2(PDZD4):c.155G>A (p.Arg52His)not specified [RCV004841918]uncertain significanceX153808501153808501Humanname
597721066CV3579288single nucleotide variantNM_001303512.2(PDZD4):c.227T>C (p.Ile76Thr)not specified [RCV004841919]uncertain significanceX153808429153808429Humanname
597721079CV3579289single nucleotide variantNM_001303512.2(PDZD4):c.232T>C (p.Phe78Leu)not specified [RCV004841920]uncertain significanceX153808424153808424Humanname
156255330CV2229283single nucleotide variantNM_001303512.2(PDZD4):c.871G>A (p.Glu291Lys)not specified [RCV004101083]uncertain significanceX153804810153804810Humanname
156297776CV2297715single nucleotide variantNM_001303512.2(PDZD4):c.347C>A (p.Ala116Glu)not specified [RCV004155394]uncertain significanceX153807337153807337Humanname
156192729CV2301912single nucleotide variantNM_001303512.2(PDZD4):c.698G>A (p.Arg233Gln)not specified [RCV004156695]uncertain significanceX153805179153805179Humanname
156171357CV2337507single nucleotide variantNM_001303512.2(PDZD4):c.344C>T (p.Pro115Leu)not specified [RCV004187940]uncertain significanceX153807340153807340Humanname
155924056CV2351990single nucleotide variantNM_001303512.2(PDZD4):c.472G>A (p.Asp158Asn)not specified [RCV004191091]uncertain significanceX153806774153806774Humanname
156342056CV2368501single nucleotide variantNM_001303512.2(PDZD4):c.844C>G (p.Leu282Val)not specified [RCV004221298]uncertain significanceX153804837153804837Humanname
329355509CV2445512single nucleotide variantNM_001303512.2(PDZD4):c.382C>T (p.Arg128Cys)not specified [RCV004257567]uncertain significanceX153807302153807302Humanname
329397861CV2464084single nucleotide variantNM_001303512.2(PDZD4):c.694G>A (p.Asp232Asn)not specified [RCV004273781]uncertain significanceX153805183153805183Humanname
401828915CV2747143single nucleotide variantNM_001303512.2(PDZD4):c.923C>T (p.Pro308Leu)Autism [RCV003328503]uncertain significanceX153804758153804758Human2name
405789658CV3372145single nucleotide variantNM_001303512.2(PDZD4):c.745C>T (p.Arg249Cys)not specified [RCV004505564]uncertain significanceX153805132153805132Humanname
405789661CV3372146single nucleotide variantNM_001303512.2(PDZD4):c.746G>A (p.Arg249His)not specified [RCV004505565]uncertain significanceX153805131153805131Humanname
597721036CV3579286single nucleotide variantNM_001303512.2(PDZD4):c.881G>A (p.Arg294Gln)not specified [RCV004841917]uncertain significanceX153804800153804800Humanname
597721091CV3579290single nucleotide variantNM_001303512.2(PDZD4):c.577G>A (p.Val193Ile)not specified [RCV004841921]uncertain significanceX153805597153805597Humanname
598260875CV4002703single nucleotide variantNM_001303512.2(PDZD4):c.562A>G (p.Ile188Val)not specified [RCV005386781]uncertain significanceX153806076153806076Humanname
598260886CV4002705single nucleotide variantNM_001303512.2(PDZD4):c.815C>T (p.Ala272Val)not specified [RCV005386783]uncertain significanceX153804866153804866Humanname
155644280CV1708542single nucleotide variantNM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn)Autism [RCV002291085]uncertain significanceX153803473153803473Human2name
156059520CV2239343single nucleotide variantNM_001303512.2(PDZD4):c.2269G>A (p.Ala757Thr)not specified [RCV004114081]likely benignX153803412153803412Humanname
156310096CV2249724single nucleotide variantNM_001303512.2(PDZD4):c.1651C>T (p.Arg551Cys)not specified [RCV004122495]uncertain significanceX153804030153804030Humanname
156316045CV2250855single nucleotide variantNM_001303512.2(PDZD4):c.1523T>G (p.Leu508Trp)not specified [RCV004129711]uncertain significanceX153804158153804158Humanname
156157129CV2266266single nucleotide variantNM_001303512.2(PDZD4):c.1126G>A (p.Gly376Ser)not specified [RCV004128827]uncertain significanceX153804555153804555Humanname
155904510CV2275974single nucleotide variantNM_001303512.2(PDZD4):c.1528C>T (p.Arg510Trp)not specified [RCV004139615]uncertain significanceX153804153153804153Humanname
156242922CV2283228single nucleotide variantNM_001303512.2(PDZD4):c.2038C>T (p.Arg680Cys)not specified [RCV004145900]uncertain significanceX153803643153803643Humanname
156267912CV2371911single nucleotide variantNM_001303512.2(PDZD4):c.1599C>G (p.Phe533Leu)not specified [RCV004221598]uncertain significanceX153804082153804082Humanname
401734904CV2690708single nucleotide variantNM_001303512.2(PDZD4):c.1924G>C (p.Val642Leu)not specified [RCV004298437]uncertain significanceX153803757153803757Humanname
401756633CV2696379single nucleotide variantNM_001303512.2(PDZD4):c.1354A>G (p.Ser452Gly)not specified [RCV004312488]likely benignX153804327153804327Humanname
401741865CV2706499single nucleotide variantNM_001303512.2(PDZD4):c.1660C>G (p.Arg554Gly)not specified [RCV004317313]uncertain significanceX153804021153804021Humanname
401783350CV2716311single nucleotide variantNM_001303512.2(PDZD4):c.1657C>T (p.Arg553Cys)not specified [RCV004325310]uncertain significanceX153804024153804024Humanname
401773463CV2716578single nucleotide variantNM_001303512.2(PDZD4):c.1454G>A (p.Ser485Asn)not specified [RCV004327653]uncertain significanceX153804227153804227Humanname
401777901CV2718382single nucleotide variantNM_001303512.2(PDZD4):c.1091G>C (p.Arg364Pro)not specified [RCV004318210]uncertain significanceX153804590153804590Humanname
401767831CV2727293single nucleotide variantNM_001303512.2(PDZD4):c.1812C>G (p.His604Gln)not specified [RCV004327406]uncertain significanceX153803869153803869Humanname
401755842CV2731135single nucleotide variantNM_001303512.2(PDZD4):c.1349C>G (p.Ala450Gly)not specified [RCV004332651]likely benignX153804332153804332Humanname
405789631CV3372139single nucleotide variantNM_001303512.2(PDZD4):c.1058C>T (p.Pro353Leu)not specified [RCV004505558]uncertain significanceX153804623153804623Humanname
405789636CV3372140single nucleotide variantNM_001303512.2(PDZD4):c.1324G>C (p.Glu442Gln)not specified [RCV004505559]uncertain significanceX153804357153804357Humanname
405789641CV3372141single nucleotide variantNM_001303512.2(PDZD4):c.1514A>G (p.Asn505Ser)not specified [RCV004505560]uncertain significanceX153804167153804167Humanname
405789644CV3372142single nucleotide variantNM_001303512.2(PDZD4):c.1559C>G (p.Pro520Arg)not specified [RCV004505561]uncertain significanceX153804122153804122Humanname
405789649CV3372143single nucleotide variantNM_001303512.2(PDZD4):c.1808G>A (p.Gly603Asp)not specified [RCV004505562]uncertain significanceX153803873153803873Humanname
407528667CV3470519single nucleotide variantNM_001303512.2(PDZD4):c.1559C>A (p.Pro520His)not specified [RCV004655637]likely benignX153804122153804122Humanname
597720985CV3579280single nucleotide variantNM_001303512.2(PDZD4):c.1652G>A (p.Arg551His)not specified [RCV004841912]uncertain significanceX153804029153804029Humanname
597720994CV3579282single nucleotide variantNM_001303512.2(PDZD4):c.1756C>T (p.His586Tyr)not specified [RCV004841913]uncertain significanceX153803925153803925Humanname
597721000CV3579283single nucleotide variantNM_001303512.2(PDZD4):c.1190G>A (p.Arg397His)not specified [RCV004841914]uncertain significanceX153804491153804491Humanname
597721010CV3579284single nucleotide variantNM_001303512.2(PDZD4):c.1510G>A (p.Gly504Ser)not specified [RCV004841915]uncertain significanceX153804171153804171Humanname
597721024CV3579285single nucleotide variantNM_001303512.2(PDZD4):c.1556C>T (p.Thr519Ile)not specified [RCV004841916]uncertain significanceX153804125153804125Humanname
597721105CV3579291single nucleotide variantNM_001303512.2(PDZD4):c.2281G>T (p.Asp761Tyr)not specified [RCV004841922]uncertain significanceX153803400153803400Humanname
597721118CV3579293single nucleotide variantNM_001303512.2(PDZD4):c.1618C>T (p.Pro540Ser)not specified [RCV004841923]uncertain significanceX153804063153804063Humanname
598260865CV4002700single nucleotide variantNM_001303512.2(PDZD4):c.1219A>G (p.Met407Val)not specified [RCV005386779]uncertain significanceX153804462153804462Humanname
598196502CV4002701single nucleotide variantNM_001303512.2(PDZD4):c.1765A>G (p.Ser589Gly)not specified [RCV005397724]uncertain significanceX153803916153803916Humanname
598260870CV4002702single nucleotide variantNM_001303512.2(PDZD4):c.1727G>T (p.Arg576Leu)not specified [RCV005386780]uncertain significanceX153803954153803954Humanname
598260881CV4002704single nucleotide variantNM_001303512.2(PDZD4):c.1475C>T (p.Pro492Leu)not specified [RCV005386782]uncertain significanceX153804206153804206Humanname