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


342 records found for search term Plxnd1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152983298CV1678122single nucleotide variantNM_015103.3(PLXND1):c.4826-4C>Gnot specified [RCV002250278]benign3129561907129561907Humanname
401912553CV2824911single nucleotide variantNM_015103.3(PLXND1):c.4086+8C>TPLXND1-related disorder [RCV003929132]|not provided [RCV003427360]benign3129567484129567484Human1name , trait , alternate_id
405290738CV3200925single nucleotide variantNM_015103.3(PLXND1):c.4994-4A>GPLXND1-related disorder [RCV003984589]benign3129560727129560727Humanname , trait , alternate_id
15153706CV743990single nucleotide variantNM_015103.3(PLXND1):c.5133+8C>Tnot provided [RCV000901812]likely benign3129560322129560322Humanname
15117993CV743996single nucleotide variantNM_015103.3(PLXND1):c.2938-4A>Gnot provided [RCV000895471]benign3129572752129572752Humanname
15162819CV744000single nucleotide variantNM_015103.3(PLXND1):c.3246-5C>Tnot provided [RCV000903637]likely benign3129571604129571604Humanname
15110690CV759091single nucleotide variantNM_015103.3(PLXND1):c.4191+8C>Anot provided [RCV000916583]likely benign3129566519129566519Humanname
15197918CV759092single nucleotide variantNM_015103.3(PLXND1):c.4086+9G>Anot provided [RCV000912110]benign3129567483129567483Humanname
15121639CV759097single nucleotide variantNM_015103.3(PLXND1):c.3751-8C>Gnot provided [RCV000918515]likely benign3129569965129569965Humanname
15163952CV759099single nucleotide variantNM_015103.3(PLXND1):c.2030-4C>Tnot provided [RCV000926260]likely benign3129584237129584237Humanname
15199917CV759204single nucleotide variantNM_015103.3(PLXND1):c.5133+7C>Tnot provided [RCV000912692]likely benign3129560323129560323Humanname
15164922CV759206single nucleotide variantNM_015103.3(PLXND1):c.5029-5C>Gnot provided [RCV000926499]likely benign3129560439129560439Humanname
15105637CV759330single nucleotide variantNM_015103.3(PLXND1):c.3078-4C>Gnot provided [RCV000915587]likely benign3129571848129571848Humanname
15141546CV778945single nucleotide variantNM_015103.3(PLXND1):c.3866-4G>APLXND1-related disorder [RCV003970865]|not provided [RCV000966323]likely benign3129567809129567809Human1name , trait , alternate_id
405287967CV3218015single nucleotide variantNM_015103.3(PLXND1):c.3973+10G>TPLXND1-related disorder [RCV003982139]benign3129567688129567688Humanname , trait , alternate_id
15173869CV743997single nucleotide variantNM_015103.3(PLXND1):c.2937+10G>TPLXND1-related disorder [RCV003958229]|not provided [RCV000905904]benign|likely benign3129572832129572832Human1name , trait , alternate_id
15155285CV759333single nucleotide variantNM_015103.3(PLXND1):c.2937+10G>Anot provided [RCV000924434]likely benign3129572832129572832Humanname
15194375CV774803single nucleotide variantNM_015103.3(PLXND1):c.3600+10A>Gnot provided [RCV000933626]likely benign3129571030129571030Humanname
15129056CV787360single nucleotide variantNM_015103.3(PLXND1):c.4993+10G>Anot provided [RCV000980815]likely benign3129561636129561636Humanname
8577999CV112377single nucleotide variantNM_015103.2(PLXND1):c.1311+5517C>TLung cancer [RCV000092900]uncertain significance3129599812129599812Humanname
8578000CV112378single nucleotide variantNM_015103.2(PLXND1):c.1311+5460G>TLung cancer [RCV000092901]uncertain significance3129599869129599869Humanname
15122261CV744016microsatelliteNM_015103.3(PLXND1):c.5446-10CT[4]PLXND1-related disorder [RCV003958050]|not provided [RCV000896210]likely benign3129557229129557230Humanname , trait , alternate_id
401770842CV2707444single nucleotide variantNM_015103.3(PLXND1):c.8C>T (p.Pro3Leu)not specified [RCV004312826]uncertain significance3129606632129606632Humanname
405651898CV3366183single nucleotide variantNM_015103.3(PLXND1):c.10C>T (p.Arg4Cys)not specified [RCV004509526]uncertain significance3129606630129606630Humanname
405651916CV3366192single nucleotide variantNM_015103.3(PLXND1):c.22G>A (p.Gly8Ser)not specified [RCV004509535]uncertain significance3129606618129606618Humanname
15184960CV697828variationNM_015103.3(PLXND1):c.2681= (p.His894=)not provided [RCV000952840]benign3129574340129574340Humanname
15184964CV697830variationNM_015103.3(PLXND1):c.1290= (p.Cys430=)not provided [RCV000952841]benign3129605350129605350Humanname
15100599CV763633single nucleotide variantNM_015103.3(PLXND1):c.109C>T (p.Leu37=)not provided [RCV000936655]likely benign3129606531129606531Humanname
156382700CV2223593single nucleotide variantNM_015103.3(PLXND1):c.95C>A (p.Pro32Gln)not specified [RCV004091944]uncertain significance3129606545129606545Humanname
156125655CV2223594single nucleotide variantNM_015103.3(PLXND1):c.98T>A (p.Leu33Gln)not specified [RCV004091945]uncertain significance3129606542129606542Humanname
405286666CV3192226single nucleotide variantNM_015103.3(PLXND1):c.474C>T (p.Ala158=)PLXND1-related disorder [RCV003924129]likely benign3129606166129606166Humanname , trait , alternate_id
405255805CV3210875single nucleotide variantNM_015103.3(PLXND1):c.609G>A (p.Gly203=)PLXND1-related disorder [RCV003939375]likely benign3129606031129606031Humanname , trait , alternate_id
405283017CV3216901single nucleotide variantNM_015103.3(PLXND1):c.966C>T (p.Cys322=)PLXND1-related disorder [RCV003979065]likely benign3129605674129605674Humanname , trait , alternate_id
405651971CV3376354single nucleotide variantNM_015103.3(PLXND1):c.76C>G (p.Pro26Ala)not specified [RCV004509563]uncertain significance3129606564129606564Humanname
597742725CV3580367single nucleotide variantNM_015103.3(PLXND1):c.83G>A (p.Arg28Gln)not specified [RCV004844935]uncertain significance3129606557129606557Humanname
597742743CV3580371single nucleotide variantNM_015103.3(PLXND1):c.49G>A (p.Ala17Thr)not specified [RCV004844938]uncertain significance3129606591129606591Humanname
598186144CV4003287single nucleotide variantNM_015103.3(PLXND1):c.59C>T (p.Pro20Leu)not specified [RCV005395721]uncertain significance3129606581129606581Humanname
15180588CV708565single nucleotide variantNM_015103.3(PLXND1):c.780C>G (p.Ser260=)PLXND1-related disorder [RCV003936183]|not provided [RCV000974189]benign|likely benign3129605860129605860Human1name , trait , alternate_id
15104957CV763631single nucleotide variantNM_015103.3(PLXND1):c.825C>T (p.His275=)not provided [RCV000937492]likely benign3129605815129605815Humanname
15118045CV763632single nucleotide variantNM_015103.3(PLXND1):c.492G>A (p.Pro164=)not provided [RCV000939936]likely benign3129606148129606148Humanname
150481174CV1222112single nucleotide variantNM_015103.3(PLXND1):c.2871A>G (p.Pro957=)PLXND1-related disorder [RCV003984004]|not provided [RCV001616910]benign3129572908129572908Human1name , trait , alternate_id
156119292CV2228878single nucleotide variantNM_015103.3(PLXND1):c.176C>T (p.Thr59Ile)not specified [RCV004095109]uncertain significance3129606464129606464Humanname
156254983CV2229238single nucleotide variantNM_015103.3(PLXND1):c.295C>G (p.Pro99Ala)not specified [RCV004101051]likely benign3129606345129606345Humanname
156100526CV2306629single nucleotide variantNM_015103.3(PLXND1):c.175A>G (p.Thr59Ala)not specified [RCV004157227]uncertain significance3129606465129606465Humanname
401752153CV2710346single nucleotide variantNM_015103.3(PLXND1):c.128G>A (p.Arg43Gln)not specified [RCV004317515]uncertain significance3129606512129606512Humanname
401882806CV2788600single nucleotide variantNM_015103.3(PLXND1):c.125C>T (p.Ala42Val)not specified [RCV004361094]uncertain significance3129606515129606515Humanname
405280804CV3195726single nucleotide variantNM_015103.3(PLXND1):c.1845G>A (p.Glu615=)PLXND1-related disorder [RCV003906958]likely benign3129585958129585958Humanname , trait , alternate_id
405290472CV3200897single nucleotide variantNM_015103.3(PLXND1):c.2295G>C (p.Thr765=)PLXND1-related disorder [RCV003984561]benign3129578380129578380Humanname , trait , alternate_id
405272299CV3206470single nucleotide variantNM_015103.3(PLXND1):c.2196C>T (p.Ser732=)PLXND1-related disorder [RCV003972067]benign3129583612129583612Humanname , trait , alternate_id
405292086CV3217197single nucleotide variantNM_015103.3(PLXND1):c.2034C>T (p.His678=)PLXND1-related disorder [RCV003964373]benign3129584229129584229Humanname , trait , alternate_id
405287583CV3217799single nucleotide variantNM_015103.3(PLXND1):c.1473C>T (p.Asn491=)PLXND1-related disorder [RCV003981922]benign3129589366129589366Humanname , trait , alternate_id
407519440CV3467619single nucleotide variantNM_015103.3(PLXND1):c.128G>C (p.Arg43Pro)not specified [RCV004651496]uncertain significance3129606512129606512Humanname
407471642CV3467621single nucleotide variantNM_015103.3(PLXND1):c.266T>C (p.Leu89Pro)not specified [RCV004662333]uncertain significance3129606374129606374Humanname
598186091CV4003280single nucleotide variantNM_015103.3(PLXND1):c.272C>T (p.Ala91Val)not specified [RCV005395714]uncertain significance3129606368129606368Humanname
15195638CV720153single nucleotide variantNM_015103.3(PLXND1):c.2829G>A (p.Val943=)PLXND1-related disorder [RCV003950375]|not provided [RCV000889557]benign3129573602129573602Human1name , trait , alternate_id
15175587CV720154single nucleotide variantNM_015103.3(PLXND1):c.2712C>T (p.Asp904=)PLXND1-related disorder [RCV003930616]|not provided [RCV000884403]benign3129573719129573719Human1name , trait , alternate_id
15197082CV720158single nucleotide variantNM_015103.3(PLXND1):c.1698C>T (p.Cys566=)PLXND1-related disorder [RCV003930767]|not provided [RCV000889955]likely benign3129586195129586195Human1name , trait , alternate_id
15107303CV720159single nucleotide variantNM_015103.3(PLXND1):c.1641C>T (p.Ala547=)PLXND1-related disorder [RCV003957996]|not provided [RCV000893449]likely benign3129586252129586252Human1name , trait , alternate_id
15200929CV720160single nucleotide variantNM_015103.3(PLXND1):c.1554C>T (p.Pro518=)not provided [RCV000891049]likely benign3129586654129586654Humanname
15149884CV720162single nucleotide variantNM_015103.3(PLXND1):c.1350G>A (p.Leu450=)PLXND1-related disorder [RCV003975505]|not provided [RCV000879260]likely benign3129589489129589489Human1name , trait , alternate_id
15122902CV733781single nucleotide variantNM_015103.3(PLXND1):c.2889C>T (p.Thr963=)not provided [RCV000896318]likely benign3129572890129572890Humanname
15161059CV733782single nucleotide variantNM_015103.3(PLXND1):c.2673C>T (p.Pro891=)not provided [RCV000903271]benign3129574348129574348Humanname
15178207CV733783single nucleotide variantNM_015103.3(PLXND1):c.2025C>T (p.Asn675=)not provided [RCV000906824]likely benign3129584389129584389Humanname
15186831CV733784single nucleotide variantNM_015103.3(PLXND1):c.1980C>T (p.Tyr660=)PLXND1-related disorder [RCV003923118]|not provided [RCV000908916]benign|likely benign3129584434129584434Human1name , trait , alternate_id
15189946CV733785single nucleotide variantNM_015103.3(PLXND1):c.1872G>A (p.Ser624=)not provided [RCV000909802]likely benign3129584542129584542Humanname
15162671CV747980single nucleotide variantNM_015103.3(PLXND1):c.2874C>G (p.Leu958=)not provided [RCV000925941]benign3129572905129572905Humanname
15195904CV747982single nucleotide variantNM_015103.3(PLXND1):c.2451G>A (p.Arg817=)not provided [RCV000911547]likely benign3129575548129575548Humanname
15202842CV747984single nucleotide variantNM_015103.3(PLXND1):c.2352A>T (p.Ala784=)not provided [RCV000913572]likely benign3129575850129575850Humanname
15193915CV747985single nucleotide variantNM_015103.3(PLXND1):c.2244C>T (p.Ser748=)not provided [RCV000910975]likely benign3129578431129578431Humanname
15203245CV747986single nucleotide variantNM_015103.3(PLXND1):c.1932C>T (p.Arg644=)not provided [RCV000913806]likely benign3129584482129584482Humanname
15159943CV747988single nucleotide variantNM_015103.3(PLXND1):c.1833T>C (p.Asp611=)not provided [RCV000925384]likely benign3129585970129585970Humanname
15126419CV747989single nucleotide variantNM_015103.3(PLXND1):c.1824C>T (p.Ser608=)not provided [RCV000919322]likely benign3129585979129585979Humanname
15167851CV747991single nucleotide variantNM_015103.3(PLXND1):c.1689C>T (p.Asp563=)not provided [RCV000927173]likely benign3129586204129586204Humanname
15139007CV747992single nucleotide variantNM_015103.3(PLXND1):c.1650C>T (p.Asn550=)PLXND1-related disorder [RCV003923284]|not provided [RCV000921432]likely benign3129586243129586243Human1name , trait , alternate_id
15161911CV747993single nucleotide variantNM_015103.3(PLXND1):c.1581A>G (p.Pro527=)not provided [RCV000925783]likely benign3129586627129586627Humanname
15154592CV747994single nucleotide variantNM_015103.3(PLXND1):c.1455C>G (p.Val485=)not provided [RCV000924290]likely benign3129589384129589384Humanname
15198186CV747995single nucleotide variantNM_015103.3(PLXND1):c.1269G>A (p.Val423=)not provided [RCV000912183]likely benign3129605371129605371Humanname
15131311CV763629single nucleotide variantNM_015103.3(PLXND1):c.2562C>T (p.Pro854=)not provided [RCV000942201]likely benign3129574459129574459Humanname
15177442CV763630single nucleotide variantNM_015103.3(PLXND1):c.1995G>A (p.Pro665=)not provided [RCV000929157]likely benign3129584419129584419Humanname
15112686CV781557single nucleotide variantNM_015103.3(PLXND1):c.2100C>T (p.Tyr700=)not provided [RCV000977873]likely benign3129584163129584163Humanname
15112692CV781558single nucleotide variantNM_015103.3(PLXND1):c.1674C>T (p.Cys558=)not provided [RCV000977874]likely benign3129586219129586219Humanname
150337159CV1171035single nucleotide variantNM_015103.3(PLXND1):c.4737G>A (p.Thr1579=)PLXND1-related disorder [RCV003983969]|not provided [RCV001541457]benign3129562875129562875Human1name , trait , alternate_id
156232884CV2245206single nucleotide variantNM_015103.3(PLXND1):c.299A>C (p.Asp100Ala)not specified [RCV004106982]uncertain significance3129606341129606341Humanname
156178790CV2298326single nucleotide variantNM_015103.3(PLXND1):c.457C>T (p.Arg153Trp)not specified [RCV004160225]uncertain significance3129606183129606183Humanname
156355578CV2324513single nucleotide variantNM_015103.3(PLXND1):c.599C>T (p.Ala200Val)not specified [RCV004178993]uncertain significance3129606041129606041Humanname
155983516CV2348029single nucleotide variantNM_015103.3(PLXND1):c.838G>C (p.Val280Leu)not specified [RCV004197711]uncertain significance3129605802129605802Humanname
156057587CV2396369single nucleotide variantNM_015103.3(PLXND1):c.905A>T (p.Asn302Ile)not specified [RCV004242092]uncertain significance3129605735129605735Humanname
329351254CV2419327single nucleotide variantNM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)Congenital heart defects, multiple types, 9 [RCV003155530]pathogenic3129605988129605988Human1name
329393715CV2449811single nucleotide variantNM_015103.3(PLXND1):c.455G>T (p.Arg152Leu)not specified [RCV004268914]uncertain significance3129606185129606185Humanname
401748413CV2696428single nucleotide variantNM_015103.3(PLXND1):c.485G>A (p.Arg162His)not specified [RCV004312516]uncertain significance3129606155129606155Humanname
401748417CV2696429single nucleotide variantNM_015103.3(PLXND1):c.511G>C (p.Glu171Gln)not specified [RCV004312517]uncertain significance3129606129129606129Humanname
401880226CV2766168single nucleotide variantNM_015103.3(PLXND1):c.3018C>T (p.Leu1006=)PLXND1-related disorder [RCV003966332]|not specified [RCV004340614]likely benign3129572668129572668Human1name , trait , alternate_id
401874515CV2774011single nucleotide variantNM_015103.3(PLXND1):c.991G>T (p.Ala331Ser)not specified [RCV004358419]uncertain significance3129605649129605649Humanname
405284463CV3196828single nucleotide variantNM_015103.3(PLXND1):c.3396C>T (p.Asn1132=)PLXND1-related disorder [RCV003979703]benign3129571244129571244Humanname , trait , alternate_id
405284518CV3196931single nucleotide variantNM_015103.3(PLXND1):c.4008C>G (p.Leu1336=)PLXND1-related disorder [RCV003979783]benign3129567570129567570Humanname , trait , alternate_id
405290706CV3197111single nucleotide variantNM_015103.3(PLXND1):c.3879C>T (p.Phe1293=)PLXND1-related disorder [RCV003984673]benign3129567792129567792Humanname , trait , alternate_id
405267587CV3198390single nucleotide variantNM_015103.3(PLXND1):c.5640C>T (p.Tyr1880=)PLXND1-related disorder [RCV003911760]likely benign3129556638129556638Humanname , trait , alternate_id
405291031CV3203769single nucleotide variantNM_015103.3(PLXND1):c.4311G>A (p.Ala1437=)PLXND1-related disorder [RCV003927341]likely benign3129565898129565898Humanname , trait , alternate_id
405278295CV3216484single nucleotide variantNM_015103.3(PLXND1):c.5646G>A (p.Lys1882=)PLXND1-related disorder [RCV003954414]likely benign3129556632129556632Humanname , trait , alternate_id
405278358CV3216520single nucleotide variantNM_015103.3(PLXND1):c.3453T>C (p.Ala1151=)PLXND1-related disorder [RCV003954440]likely benign3129571187129571187Humanname , trait , alternate_id
405283080CV3216982single nucleotide variantNM_015103.3(PLXND1):c.3627G>A (p.Gln1209=)PLXND1-related disorder [RCV003979130]benign3129570909129570909Humanname , trait , alternate_id
405287461CV3217795single nucleotide variantNM_015103.3(PLXND1):c.5727G>A (p.Gln1909=)PLXND1-related disorder [RCV003981918]benign3129556363129556363Human3name , trait , alternate_id
405278580CV3220332single nucleotide variantNM_015103.3(PLXND1):c.3030C>T (p.Ser1010=)PLXND1-related disorder [RCV003976560]benign3129572656129572656Humanname , trait , alternate_id
405651965CV3376351single nucleotide variantNM_015103.3(PLXND1):c.583G>A (p.Val195Ile)not specified [RCV004509560]uncertain significance3129606057129606057Humanname
405651967CV3376352single nucleotide variantNM_015103.3(PLXND1):c.611G>C (p.Gly204Ala)not specified [RCV004509561]uncertain significance3129606029129606029Humanname
405651969CV3376353single nucleotide variantNM_015103.3(PLXND1):c.688C>T (p.His230Tyr)not specified [RCV004509562]uncertain significance3129605952129605952Humanname
405651973CV3376355single nucleotide variantNM_015103.3(PLXND1):c.974A>T (p.His325Leu)not specified [RCV004509564]uncertain significance3129605666129605666Humanname
407426291CV3409825single nucleotide variantNM_015103.3(PLXND1):c.4065G>A (p.Val1355=)not provided [RCV004585757]likely benign3129567513129567513Humanname
596931416CV3531752single nucleotide variantNM_015103.3(PLXND1):c.614G>A (p.Ser205Asn)not provided [RCV004781314]uncertain significance3129606026129606026Humanname
597742738CV3580370single nucleotide variantNM_015103.3(PLXND1):c.455G>A (p.Arg152His)not specified [RCV004844937]uncertain significance3129606185129606185Humanname
597742763CV3580374single nucleotide variantNM_015103.3(PLXND1):c.703A>C (p.Thr235Pro)not specified [RCV004844941]uncertain significance3129605937129605937Humanname
597742787CV3580379single nucleotide variantNM_015103.3(PLXND1):c.452G>A (p.Arg151Gln)not specified [RCV004844945]uncertain significance3129606188129606188Humanname
597742801CV3580381single nucleotide variantNM_015103.3(PLXND1):c.799A>G (p.Ile267Val)not specified [RCV004844947]uncertain significance3129605841129605841Humanname
598222945CV3893941single nucleotide variantNM_015103.3(PLXND1):c.4425C>T (p.Ala1475=)not provided [RCV005257184]likely benign3129565436129565436Humanname
598186105CV4003282single nucleotide variantNM_015103.3(PLXND1):c.817G>A (p.Glu273Lys)not specified [RCV005395716]uncertain significance3129605823129605823Humanname
15137645CV708562single nucleotide variantNM_015103.3(PLXND1):c.3216G>A (p.Thr1072=)not provided [RCV000965656]benign3129571706129571706Humanname
15110870CV720150single nucleotide variantNM_015103.3(PLXND1):c.4797G>A (p.Gln1599=)not provided [RCV000894156]likely benign3129562815129562815Humanname
15104280CV720151single nucleotide variantNM_015103.3(PLXND1):c.3579G>A (p.Glu1193=)not provided [RCV000892852]likely benign3129571061129571061Humanname
15182481CV720152single nucleotide variantNM_015103.3(PLXND1):c.3207G>A (p.Pro1069=)not provided [RCV000886001]likely benign3129571715129571715Humanname
15149888CV720163single nucleotide variantNM_015103.3(PLXND1):c.889G>A (p.Ala297Thr)Kleine-Levin syndrome [RCV002509576]|not provided [RCV000879261]likely benign|uncertain significance3129605751129605751Human1name
15169542CV733774single nucleotide variantNM_015103.3(PLXND1):c.4803G>A (p.Pro1601=)PLXND1-related disorder [RCV003912933]|not provided [RCV000905079]likely benign3129562809129562809Human1name , trait , alternate_id
15165708CV733775single nucleotide variantNM_015103.3(PLXND1):c.4653C>A (p.Ile1551=)not provided [RCV000904282]benign3129563109129563109Humanname
15192724CV733776single nucleotide variantNM_015103.3(PLXND1):c.4590C>T (p.Ile1530=)not provided [RCV000910627]likely benign3129563172129563172Humanname
15119774CV733779single nucleotide variantNM_015103.3(PLXND1):c.3444C>T (p.Asp1148=)PLXND1-related disorder [RCV003922861]|not provided [RCV000895783]benign3129571196129571196Human1name , trait , alternate_id
15196213CV747973single nucleotide variantNM_015103.3(PLXND1):c.5490G>A (p.Glu1830=)not provided [RCV000911634]likely benign3129557179129557179Humanname
15154065CV747974single nucleotide variantNM_015103.3(PLXND1):c.5043C>T (p.Asp1681=)not provided [RCV000924185]likely benign3129560420129560420Humanname
15098128CV747975single nucleotide variantNM_015103.3(PLXND1):c.4731C>T (p.Thr1577=)not provided [RCV000914173]likely benign3129562881129562881Humanname
15169020CV747976single nucleotide variantNM_015103.3(PLXND1):c.4422G>A (p.Ser1474=)not provided [RCV000927414]likely benign3129565439129565439Humanname
15139590CV747977single nucleotide variantNM_015103.3(PLXND1):c.4344G>C (p.Leu1448=)not provided [RCV000921532]likely benign3129565517129565517Humanname
15168074CV747978single nucleotide variantNM_015103.3(PLXND1):c.3744C>T (p.Pro1248=)not provided [RCV000927218]likely benign3129570792129570792Humanname
15153150CV747979single nucleotide variantNM_015103.3(PLXND1):c.3219C>T (p.Ala1073=)not provided [RCV000924008]likely benign3129571703129571703Humanname
15199054CV747996single nucleotide variantNM_015103.3(PLXND1):c.847T>C (p.Phe283Leu)PLXND1-related disorder [RCV003902906]|not provided [RCV000912434]benign|likely benign3129605793129605793Human1name , trait , alternate_id
15139268CV763625single nucleotide variantNM_015103.3(PLXND1):c.5256A>C (p.Gly1752=)not provided [RCV000943526]likely benign3129559661129559661Humanname
15188064CV763626single nucleotide variantNM_015103.3(PLXND1):c.3873C>T (p.Phe1291=)not provided [RCV000931841]likely benign3129567798129567798Humanname
15116990CV763627single nucleotide variantNM_015103.3(PLXND1):c.3264A>C (p.Thr1088=)not provided [RCV000939759]likely benign3129571581129571581Humanname
15196846CV763628single nucleotide variantNM_015103.3(PLXND1):c.3042C>T (p.Val1014=)not provided [RCV000934335]likely benign3129572644129572644Humanname
8630593CV85748single nucleotide variantNM_015103.2(PLXND1):c.3819C>T (p.Ile1273=)Malignant melanoma [RCV000065831]not provided3129569889129569889Humanname
150516281CV1287282single nucleotide variantNM_015103.3(PLXND1):c.2753G>A (p.Arg918Gln)not provided [RCV001723274]|not specified [RCV004837810]uncertain significance3129573678129573678Humanname
155643610CV1707957single nucleotide variantNM_015103.3(PLXND1):c.2467C>A (p.Pro823Thr)Oromandibular-limb hypogenesis spectrum [RCV002289418]|not specified [RCV005397374]uncertain significance3129575532129575532Human1name
155803581CV1858143single nucleotide variantNM_015103.3(PLXND1):c.2890G>A (p.Val964Met)not provided [RCV002462452]uncertain significance3129572889129572889Humanname
156237036CV2193532single nucleotide variantNM_015103.3(PLXND1):c.1400G>A (p.Arg467His)not specified [RCV004073010]uncertain significance3129589439129589439Humanname
156134421CV2196025single nucleotide variantNM_015103.3(PLXND1):c.1569G>A (p.Met523Ile)not specified [RCV004072268]uncertain significance3129586639129586639Humanname
156400535CV2199246single nucleotide variantNM_015103.3(PLXND1):c.2501G>A (p.Arg834Gln)not specified [RCV004082606]uncertain significance3129575498129575498Humanname
156130104CV2209936single nucleotide variantNM_015103.3(PLXND1):c.1610C>T (p.Thr537Met)not specified [RCV004076382]uncertain significance3129586598129586598Humanname
155921957CV2240608single nucleotide variantNM_015103.3(PLXND1):c.2705C>A (p.Pro902Gln)not specified [RCV004119253]uncertain significance3129573726129573726Humanname
156171088CV2286608single nucleotide variantNM_015103.3(PLXND1):c.1994C>T (p.Pro665Leu)not specified [RCV004142458]uncertain significance3129584420129584420Humanname
156068848CV2292635single nucleotide variantNM_015103.3(PLXND1):c.1283C>T (p.Pro428Leu)not specified [RCV004154324]uncertain significance3129605357129605357Humanname
156179765CV2298401single nucleotide variantNM_015103.3(PLXND1):c.2860G>A (p.Ala954Thr)not specified [RCV004162076]uncertain significance3129572919129572919Humanname
156179370CV2327657single nucleotide variantNM_015103.3(PLXND1):c.2635G>A (p.Gly879Arg)not specified [RCV004177237]uncertain significance3129574386129574386Humanname
156252751CV2328882single nucleotide variantNM_015103.3(PLXND1):c.2426A>T (p.Asp809Val)not specified [RCV004179881]uncertain significance3129575776129575776Humanname
156337558CV2343068single nucleotide variantNM_015103.3(PLXND1):c.2024A>G (p.Asn675Ser)not specified [RCV004192665]uncertain significance3129584390129584390Humanname
155928222CV2346552single nucleotide variantNM_015103.3(PLXND1):c.1831G>A (p.Asp611Asn)not specified [RCV004206467]uncertain significance3129585972129585972Humanname
156245746CV2347259single nucleotide variantNM_015103.3(PLXND1):c.2110C>T (p.Arg704Cys)not specified [RCV004204725]uncertain significance3129584153129584153Humanname
156183463CV2353235single nucleotide variantNM_015103.3(PLXND1):c.1502A>G (p.Glu501Gly)not specified [RCV004203701]uncertain significance3129586706129586706Humanname
156391262CV2385213single nucleotide variantNM_015103.3(PLXND1):c.1435G>A (p.Val479Ile)not specified [RCV004228461]uncertain significance3129589404129589404Humanname
155998833CV2396309single nucleotide variantNM_015103.3(PLXND1):c.2792G>T (p.Gly931Val)not specified [RCV004242041]uncertain significance3129573639129573639Humanname
329351253CV2419328single nucleotide variantNM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)Congenital heart defects, multiple types, 9 [RCV003155531]pathogenic3129573698129573698Human1name
329375559CV2431564single nucleotide variantNM_015103.3(PLXND1):c.1453G>C (p.Val485Leu)not specified [RCV004254716]uncertain significance3129589386129589386Humanname
329390665CV2440296single nucleotide variantNM_015103.3(PLXND1):c.1720C>T (p.Arg574Trp)not specified [RCV004262779]uncertain significance3129586173129586173Humanname
401752784CV2682935single nucleotide variantNM_015103.3(PLXND1):c.2924G>A (p.Arg975His)not specified [RCV004283729]uncertain significance3129572855129572855Humanname
401770511CV2685745single nucleotide variantNM_015103.3(PLXND1):c.1643C>T (p.Ala548Val)not specified [RCV004294738]uncertain significance3129586250129586250Humanname
401774477CV2713488single nucleotide variantNM_015103.3(PLXND1):c.2261G>A (p.Arg754Gln)not specified [RCV004319092]likely benign3129578414129578414Humanname
401777628CV2718277single nucleotide variantNM_015103.3(PLXND1):c.1829T>C (p.Ile610Thr)not specified [RCV004318122]uncertain significance3129585974129585974Humanname
401872233CV2754310single nucleotide variantNM_015103.3(PLXND1):c.2458C>G (p.Gln820Glu)not specified [RCV004334486]uncertain significance3129575541129575541Humanname
401884586CV2755905single nucleotide variantNM_015103.3(PLXND1):c.2627G>A (p.Arg876His)not specified [RCV004335994]uncertain significance3129574394129574394Humanname
401890353CV2768124single nucleotide variantNM_015103.3(PLXND1):c.1420G>A (p.Val474Met)not specified [RCV004350145]uncertain significance3129589419129589419Humanname
401876698CV2783034single nucleotide variantNM_015103.3(PLXND1):c.2480A>C (p.Gln827Pro)not specified [RCV004361815]uncertain significance3129575519129575519Humanname
401875242CV2787617single nucleotide variantNM_015103.3(PLXND1):c.1087C>T (p.Pro363Ser)not specified [RCV004356553]uncertain significance3129605553129605553Humanname
401888141CV2791278single nucleotide variantNM_015103.3(PLXND1):c.1678G>C (p.Gly560Arg)not specified [RCV004356906]uncertain significance3129586215129586215Humanname
401912555CV2824912single nucleotide variantNM_015103.3(PLXND1):c.1578C>G (p.Asp526Glu)PLXND1-related disorder [RCV003938991]|not provided [RCV003427361]likely benign|uncertain significance3129586630129586630Human1name , trait , alternate_id
401912556CV2824913single nucleotide variantNM_015103.3(PLXND1):c.1466C>T (p.Thr489Met)not provided [RCV003427362]uncertain significance3129589373129589373Humanname
404999149CV2850825single nucleotide variantNM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)Congenital heart defects, multiple types, 9 [RCV003493129]|not specified [RCV004661669]uncertain significance3129583568129583568Human1name
405076916CV3081250single nucleotide variantNM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)Congenital heart defects, multiple types, 9 [RCV003764474]uncertain significance3129572909129572909Human1name
405283733CV3199712single nucleotide variantNM_015103.3(PLXND1):c.1849C>T (p.Pro617Ser)PLXND1-related disorder [RCV003979374]benign3129585954129585954Humanname , trait , alternate_id
405280404CV3200730single nucleotide variantNM_015103.3(PLXND1):c.2608A>G (p.Met870Val)PLXND1-related disorder [RCV003977355]benign3129574413129574413Human1name , trait , alternate_id
405272548CV3221829single nucleotide variantNM_015103.3(PLXND1):c.1591G>A (p.Gly531Ser)PLXND1-related disorder [RCV003972182]benign3129586617129586617Humanname , trait , alternate_id
405651895CV3366182single nucleotide variantNM_015103.3(PLXND1):c.1070G>A (p.Arg357His)not specified [RCV004509525]uncertain significance3129605570129605570Humanname
405651900CV3366184single nucleotide variantNM_015103.3(PLXND1):c.1393G>A (p.Val465Met)not specified [RCV004509527]uncertain significance3129589446129589446Humanname
405651902CV3366185single nucleotide variantNM_015103.3(PLXND1):c.1426G>A (p.Val476Met)not specified [RCV004509528]uncertain significance3129589413129589413Humanname
405651904CV3366186single nucleotide variantNM_015103.3(PLXND1):c.1459C>G (p.Leu487Val)not specified [RCV004509529]uncertain significance3129589380129589380Humanname
405651906CV3366187single nucleotide variantNM_015103.3(PLXND1):c.1718C>T (p.Thr573Met)not specified [RCV004509530]uncertain significance3129586175129586175Humanname
405652123CV3366189single nucleotide variantNM_015103.3(PLXND1):c.1942C>T (p.Arg648Trp)not specified [RCV004509532]uncertain significance3129584472129584472Humanname
405651912CV3366190single nucleotide variantNM_015103.3(PLXND1):c.2021C>G (p.Pro674Arg)not specified [RCV004509533]uncertain significance3129584393129584393Humanname
405651914CV3366191single nucleotide variantNM_015103.3(PLXND1):c.2224G>T (p.Ala742Ser)not specified [RCV004509534]uncertain significance3129583584129583584Humanname
405651918CV3366193single nucleotide variantNM_015103.3(PLXND1):c.2343C>G (p.Phe781Leu)not specified [RCV004509536]uncertain significance3129578332129578332Humanname
405651920CV3366194single nucleotide variantNM_015103.3(PLXND1):c.2485A>G (p.Lys829Glu)not specified [RCV004509537]uncertain significance3129575514129575514Humanname
405651922CV3366195single nucleotide variantNM_015103.3(PLXND1):c.2515C>T (p.Pro839Ser)not specified [RCV004509538]uncertain significance3129575484129575484Humanname
405651926CV3366197single nucleotide variantNM_015103.3(PLXND1):c.2864C>T (p.Pro955Leu)not specified [RCV004509540]uncertain significance3129572915129572915Humanname
405651927CV3366198single nucleotide variantNM_015103.3(PLXND1):c.2954C>T (p.Ser985Phe)not specified [RCV004509541]uncertain significance3129572732129572732Humanname
407519434CV3467616single nucleotide variantNM_015103.3(PLXND1):c.2735G>A (p.Arg912Gln)not specified [RCV004651493]uncertain significance3129573696129573696Humanname
407519436CV3467617single nucleotide variantNM_015103.3(PLXND1):c.2389G>A (p.Glu797Lys)not specified [RCV004651494]uncertain significance3129575813129575813Humanname
407519449CV3467627single nucleotide variantNM_015103.3(PLXND1):c.2086A>G (p.Asn696Asp)not specified [RCV004651501]uncertain significance3129584177129584177Humanname
407501377CV3495593deletionNM_015103.3(PLXND1):c.3676del (p.Ile1226fs)not provided [RCV004697433]uncertain significance3129570860129570860Humanname
597742642CV3580351single nucleotide variantNM_015103.3(PLXND1):c.2779G>T (p.Val927Leu)not specified [RCV004844922]uncertain significance3129573652129573652Humanname
597768641CV3580352single nucleotide variantNM_015103.3(PLXND1):c.1225G>T (p.Val409Leu)not specified [RCV004850728]uncertain significance3129605415129605415Humanname
597768646CV3580356single nucleotide variantNM_015103.3(PLXND1):c.2492G>A (p.Arg831Gln)not specified [RCV004850729]likely benign3129575507129575507Humanname
597742667CV3580357single nucleotide variantNM_015103.3(PLXND1):c.2797G>A (p.Ala933Thr)not specified [RCV004844926]uncertain significance3129573634129573634Humanname
597742673CV3580358single nucleotide variantNM_015103.3(PLXND1):c.2798C>A (p.Ala933Asp)not specified [RCV004844927]uncertain significance3129573633129573633Humanname
597742687CV3580361single nucleotide variantNM_015103.3(PLXND1):c.2683G>A (p.Ala895Thr)not specified [RCV004844929]uncertain significance3129574338129574338Humanname
597742700CV3580363single nucleotide variantNM_015103.3(PLXND1):c.2651T>C (p.Met884Thr)not specified [RCV004844931]uncertain significance3129574370129574370Humanname
597742719CV3580366single nucleotide variantNM_015103.3(PLXND1):c.1783G>A (p.Glu595Lys)not specified [RCV004844934]uncertain significance3129586020129586020Humanname
597768655CV3580368single nucleotide variantNM_015103.3(PLXND1):c.2962C>G (p.Pro988Ala)not specified [RCV004850731]uncertain significance3129572724129572724Humanname
597742751CV3580372single nucleotide variantNM_015103.3(PLXND1):c.2858C>T (p.Pro953Leu)not specified [RCV004844939]uncertain significance3129572921129572921Humanname
597768659CV3580377single nucleotide variantNM_015103.3(PLXND1):c.1147G>C (p.Ala383Pro)not specified [RCV004850732]uncertain significance3129605493129605493Humanname
597742781CV3580378single nucleotide variantNM_015103.3(PLXND1):c.1057G>T (p.Asp353Tyr)not specified [RCV004844944]uncertain significance3129605583129605583Humanname
597975966CV3796039single nucleotide variantNM_015103.3(PLXND1):c.1213A>T (p.Thr405Ser)not provided [RCV005144871]uncertain significance3129605427129605427Humanname
598186026CV4003272single nucleotide variantNM_015103.3(PLXND1):c.2776G>A (p.Gly926Ser)not specified [RCV005395706]uncertain significance3129573655129573655Humanname
598186055CV4003276single nucleotide variantNM_015103.3(PLXND1):c.2767G>A (p.Val923Met)not specified [RCV005395710]uncertain significance3129573664129573664Humanname
598186063CV4003277single nucleotide variantNM_015103.3(PLXND1):c.1555G>A (p.Val519Met)not specified [RCV005395711]uncertain significance3129586653129586653Humanname
598186072CV4003278single nucleotide variantNM_015103.3(PLXND1):c.1109C>G (p.Ala370Gly)not specified [RCV005395712]uncertain significance3129605531129605531Humanname
598186152CV4003288single nucleotide variantNM_015103.3(PLXND1):c.1442A>G (p.Asn481Ser)not specified [RCV005395722]uncertain significance3129589397129589397Humanname
598186158CV4003289single nucleotide variantNM_015103.3(PLXND1):c.1109C>T (p.Ala370Val)not specified [RCV005395723]uncertain significance3129605531129605531Humanname
598186177CV4003291single nucleotide variantNM_015103.3(PLXND1):c.2680C>T (p.His894Tyr)not specified [RCV005395725]uncertain significance3129574341129574341Humanname
598186199CV4003294single nucleotide variantNM_015103.3(PLXND1):c.2251G>T (p.Asp751Tyr)not specified [RCV005395728]uncertain significance3129578424129578424Humanname
598186231CV4003298single nucleotide variantNM_015103.3(PLXND1):c.1651G>A (p.Val551Met)not specified [RCV005395732]uncertain significance3129586242129586242Humanname
598186239CV4003299single nucleotide variantNM_015103.3(PLXND1):c.2705C>T (p.Pro902Leu)not specified [RCV005395733]uncertain significance3129573726129573726Humanname
15175732CV697827single nucleotide variantNM_015103.3(PLXND1):c.2918G>A (p.Arg973Gln)PLXND1-related disorder [RCV003933302]|not provided [RCV000950658]benign3129572861129572861Human1name , trait , alternate_id
15186168CV697829single nucleotide variantNM_015103.3(PLXND1):c.2263A>G (p.Thr755Ala)Congenital heart defects, multiple types, 9 [RCV003989612]|PLXND1-related disorder [RCV003915825]|not provided [RCV000953202]benign|likely benign3129578412129578412Human1name , trait , alternate_id
15169737CV708563single nucleotide variantNM_015103.3(PLXND1):c.2275C>T (p.Pro759Ser)PLXND1-related disorder [RCV003906031]|not provided [RCV000971872]benign|likely benign3129578400129578400Human1name , trait , alternate_id
15125629CV708564single nucleotide variantNM_015103.3(PLXND1):c.1501G>A (p.Glu501Lys)PLXND1-related disorder [RCV003926214]|not provided [RCV000963610]benign3129586707129586707Human2name , trait , alternate_id
15125629CV708564single nucleotide variantNM_015103.3(PLXND1):c.1501G>A (p.Glu501Lys)PLXND1-related disorder [RCV003926214]|not provided [RCV000963610]benign3129586707129586708Human2name , trait , alternate_id
15107299CV720155single nucleotide variantNM_015103.3(PLXND1):c.2610G>A (p.Met870Ile)PLXND1-related disorder [RCV003968154]|not provided [RCV000893448]benign|likely benign3129574411129574411Human1name , trait , alternate_id
15175948CV720156single nucleotide variantNM_015103.3(PLXND1):c.2162A>G (p.Gln721Arg)PLXND1-related disorder [RCV003948349]|not provided [RCV000884480]benign3129583646129583646Human1name , trait , alternate_id
15109620CV720157single nucleotide variantNM_015103.3(PLXND1):c.1871C>T (p.Ser624Leu)not provided [RCV000893904]likely benign3129584543129584543Humanname
15195642CV720161single nucleotide variantNM_015103.3(PLXND1):c.1513G>C (p.Val505Leu)PLXND1-related disorder [RCV003930752]|not provided [RCV000889558]benign3129586695129586695Human2name , trait , alternate_id
15195642CV720161single nucleotide variantNM_015103.3(PLXND1):c.1513G>C (p.Val505Leu)PLXND1-related disorder [RCV003930752]|not provided [RCV000889558]benign3129586695129586696Human2name , trait , alternate_id
15127671CV733786single nucleotide variantNM_015103.3(PLXND1):c.1795C>T (p.Arg599Cys)PLXND1-related disorder [RCV003950489]|not provided [RCV000897150]likely benign3129586008129586008Human1name , trait , alternate_id
15133133CV733787single nucleotide variantNM_015103.3(PLXND1):c.1592G>T (p.Gly531Val)PLXND1-related disorder [RCV003968209]|not provided [RCV000898078]benign3129586616129586616Human1name , trait , alternate_id
15140358CV733788single nucleotide variantNM_015103.3(PLXND1):c.1544A>G (p.Tyr515Cys)not provided [RCV000899305]benign3129586664129586664Humanname
15150780CV733789single nucleotide variantNM_015103.3(PLXND1):c.1511A>G (p.Gln504Arg)PLXND1-related disorder [RCV003975737]|not provided [RCV000901226]benign3129586697129586697Human1name , trait , alternate_id
15134397CV747981single nucleotide variantNM_015103.3(PLXND1):c.2548G>A (p.Ala850Thr)PLXND1-related disorder [RCV003933099]|not provided [RCV000920679]benign3129574473129574473Human1name , trait , alternate_id
15153155CV747983single nucleotide variantNM_015103.3(PLXND1):c.2450G>A (p.Arg817Gln)not provided [RCV000924009]likely benign3129575549129575549Humanname
15196268CV747987single nucleotide variantNM_015103.3(PLXND1):c.1931G>A (p.Arg644His)not provided [RCV000911649]likely benign3129584483129584483Humanname
15143281CV747990single nucleotide variantNM_015103.3(PLXND1):c.1793G>C (p.Ser598Thr)not provided [RCV000922163]likely benign3129586010129586010Humanname
150335089CV1164208single nucleotide variantNM_015103.3(PLXND1):c.4526C>T (p.Thr1509Met)not provided [RCV001530078]uncertain significance3129563236129563236Humanname
150468446CV1218914single nucleotide variantNM_015103.3(PLXND1):c.4234T>G (p.Leu1412Val)PLXND1-related disorder [RCV003984003]|not provided [RCV001614666]benign3129565975129565975Human5name , trait , alternate_id
155716687CV1780519single nucleotide variantNM_015103.3(PLXND1):c.3189C>G (p.Phe1063Leu)not provided [RCV002306124]uncertain significance3129571733129571733Humanname
156044739CV1867427single nucleotide variantNM_015103.3(PLXND1):c.5629A>G (p.Ile1877Val)Kleine-Levin syndrome [RCV002509901]uncertain significance3129556649129556649Human1name
156028673CV2195862single nucleotide variantNM_015103.3(PLXND1):c.3323G>A (p.Gly1108Asp)not specified [RCV004076201]uncertain significance3129571522129571522Humanname
156314925CV2196713single nucleotide variantNM_015103.3(PLXND1):c.5641G>A (p.Ala1881Thr)not specified [RCV004069397]uncertain significance3129556637129556637Humanname
156280219CV2206374single nucleotide variantNM_015103.3(PLXND1):c.4575C>G (p.Ile1525Met)not specified [RCV004078706]uncertain significance3129563187129563187Humanname
156104891CV2207532single nucleotide variantNM_015103.3(PLXND1):c.3233G>A (p.Arg1078His)not specified [RCV004089997]uncertain significance3129571689129571689Humanname
156194068CV2214207single nucleotide variantNM_015103.3(PLXND1):c.3862G>A (p.Val1288Met)not specified [RCV004086202]uncertain significance3129569846129569846Humanname
155966507CV2216702single nucleotide variantNM_015103.3(PLXND1):c.3164G>C (p.Gly1055Ala)not specified [RCV004083153]uncertain significance3129571758129571758Humanname
156288998CV2229845single nucleotide variantNM_015103.3(PLXND1):c.4244C>T (p.Ser1415Leu)not specified [RCV004105411]uncertain significance3129565965129565965Humanname
156277367CV2230706single nucleotide variantNM_015103.3(PLXND1):c.3725C>T (p.Ala1242Val)not specified [RCV004097651]uncertain significance3129570811129570811Humanname
156128402CV2238450single nucleotide variantNM_015103.3(PLXND1):c.3079C>T (p.Arg1027Cys)not specified [RCV004113507]uncertain significance3129571843129571843Humanname
155949416CV2242696single nucleotide variantNM_015103.3(PLXND1):c.4536G>C (p.Glu1512Asp)not specified [RCV004113738]uncertain significance3129563226129563226Humanname
156035504CV2253077single nucleotide variantNM_015103.3(PLXND1):c.4805G>T (p.Arg1602Leu)not specified [RCV004120863]uncertain significance3129562807129562807Humanname
156071891CV2254986single nucleotide variantNM_015103.3(PLXND1):c.3026G>T (p.Gly1009Val)not specified [RCV004117211]uncertain significance3129572660129572660Humanname
156102691CV2260446single nucleotide variantNM_015103.3(PLXND1):c.3724G>T (p.Ala1242Ser)not specified [RCV004123241]uncertain significance3129570812129570812Humanname
155977771CV2266444single nucleotide variantNM_015103.3(PLXND1):c.5323A>G (p.Ile1775Val)not specified [RCV004131026]uncertain significance3129558550129558550Humanname
156368554CV2267031single nucleotide variantNM_015103.3(PLXND1):c.5767A>G (p.Ser1923Gly)not specified [RCV004131670]uncertain significance3129556323129556323Humanname
156271921CV2280839single nucleotide variantNM_015103.3(PLXND1):c.4666C>T (p.Arg1556Trp)not specified [RCV004145095]uncertain significance3129563096129563096Humanname
156070877CV2289657single nucleotide variantNM_015103.3(PLXND1):c.3873C>G (p.Phe1291Leu)not specified [RCV004148569]uncertain significance3129567798129567798Humanname
156198522CV2293697single nucleotide variantNM_015103.3(PLXND1):c.3175G>C (p.Gly1059Arg)not specified [RCV004154988]uncertain significance3129571747129571747Humanname
156104566CV2311005single nucleotide variantNM_015103.3(PLXND1):c.3310G>A (p.Val1104Ile)not specified [RCV004164027]uncertain significance3129571535129571535Humanname
156347000CV2315083single nucleotide variantNM_015103.3(PLXND1):c.4821C>A (p.Asp1607Glu)not specified [RCV004165270]uncertain significance3129562791129562791Humanname
156259119CV2322207single nucleotide variantNM_015103.3(PLXND1):c.4462T>C (p.Ser1488Pro)not specified [RCV004175981]uncertain significance3129565399129565399Humanname
156247344CV2357049single nucleotide variantNM_015103.3(PLXND1):c.3491G>A (p.Arg1164Gln)not specified [RCV004206852]uncertain significance3129571149129571149Humanname
156386671CV2364815single nucleotide variantNM_015103.3(PLXND1):c.3179A>G (p.Asn1060Ser)not specified [RCV004219681]uncertain significance3129571743129571743Humanname
156347196CV2375394single nucleotide variantNM_015103.3(PLXND1):c.3295A>C (p.Asn1099His)not specified [RCV004232790]uncertain significance3129571550129571550Humanname
155906515CV2379049single nucleotide variantNM_015103.3(PLXND1):c.5044G>C (p.Glu1682Gln)not specified [RCV004233807]uncertain significance3129560419129560419Humanname
156103439CV2386904single nucleotide variantNM_015103.3(PLXND1):c.3215C>T (p.Thr1072Met)not specified [RCV004233536]uncertain significance3129571707129571707Humanname
155933339CV2399303single nucleotide variantNM_015103.3(PLXND1):c.5550G>T (p.Glu1850Asp)not specified [RCV004242596]uncertain significance3129557119129557119Humanname
156004766CV2401018single nucleotide variantNM_015103.3(PLXND1):c.4310C>T (p.Ala1437Val)not specified [RCV004244296]uncertain significance3129565899129565899Humanname
329351257CV2419325single nucleotide variantNM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)Congenital heart defects, multiple types, 9 [RCV003155528]pathogenic3129567776129567776Human1name
329351256CV2419326single nucleotide variantNM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)Congenital heart defects, multiple types, 9 [RCV003155529]pathogenic3129558550129558550Human1name
329357729CV2427818single nucleotide variantNM_015103.3(PLXND1):c.3404C>T (p.Ala1135Val)not specified [RCV004252594]uncertain significance3129571236129571236Humanname
329393977CV2450000single nucleotide variantNM_015103.3(PLXND1):c.3079C>G (p.Arg1027Gly)not specified [RCV004269060]uncertain significance3129571843129571843Humanname
329360122CV2458531single nucleotide variantNM_015103.3(PLXND1):c.4969A>G (p.Lys1657Glu)not specified [RCV004268223]uncertain significance3129561670129561670Humanname
401747309CV2688876single nucleotide variantNM_015103.3(PLXND1):c.3325C>T (p.Arg1109Trp)not specified [RCV004303886]uncertain significance3129571520129571520Humanname
401732362CV2698294single nucleotide variantNM_015103.3(PLXND1):c.5548G>A (p.Glu1850Lys)not specified [RCV004304843]uncertain significance3129557121129557121Humanname
401750329CV2701152single nucleotide variantNM_015103.3(PLXND1):c.4360G>A (p.Gly1454Ser)not specified [RCV004309735]uncertain significance3129565501129565501Humanname
401750297CV2715581single nucleotide variantNM_015103.3(PLXND1):c.4207C>T (p.Arg1403Trp)not specified [RCV004326972]uncertain significance3129566002129566002Humanname
401754547CV2722734single nucleotide variantNM_015103.3(PLXND1):c.4114G>T (p.Val1372Leu)not specified [RCV004325167]uncertain significance3129566604129566604Humanname
401752718CV2723331single nucleotide variantNM_015103.3(PLXND1):c.4699A>G (p.Met1567Val)not specified [RCV004329550]uncertain significance3129562913129562913Humanname
401856957CV2759887single nucleotide variantNM_015103.3(PLXND1):c.3478G>A (p.Glu1160Lys)not specified [RCV004345314]uncertain significance3129571162129571162Humanname
401895902CV2775816single nucleotide variantNM_015103.3(PLXND1):c.5497A>G (p.Lys1833Glu)not specified [RCV004344855]uncertain significance3129557172129557172Humanname
401907417CV2798040single nucleotide variantNM_015103.3(PLXND1):c.4682C>T (p.Ser1561Phe)PLXND1-related disorder [RCV003422447]uncertain significance3129562930129562930Humanname , trait , alternate_id
401944130CV2840477single nucleotide variantNM_015103.3(PLXND1):c.4466T>C (p.Val1489Ala)not provided [RCV003457113]uncertain significance3129565395129565395Humanname
405285441CV3212468single nucleotide variantNM_015103.3(PLXND1):c.4954A>G (p.Met1652Val)PLXND1-related disorder [RCV003959059]likely benign3129561685129561685Humanname , trait , alternate_id
405651929CV3366199single nucleotide variantNM_015103.3(PLXND1):c.3047T>C (p.Val1016Ala)not specified [RCV004509542]uncertain significance3129572639129572639Humanname
405651933CV3366201single nucleotide variantNM_015103.3(PLXND1):c.3068C>T (p.Thr1023Met)not specified [RCV004509544]uncertain significance3129572618129572618Humanname
405651935CV3366202single nucleotide variantNM_015103.3(PLXND1):c.3154G>C (p.Glu1052Gln)not specified [RCV004509545]uncertain significance3129571768129571768Human2name
405651936CV3366203single nucleotide variantNM_015103.3(PLXND1):c.3326G>A (p.Arg1109Gln)not specified [RCV004509546]uncertain significance3129571519129571519Humanname
405651939CV3366204single nucleotide variantNM_015103.3(PLXND1):c.3490C>T (p.Arg1164Trp)not specified [RCV004509547]uncertain significance3129571150129571150Humanname
405651941CV3376339single nucleotide variantNM_015103.3(PLXND1):c.3493G>A (p.Gly1165Ser)not specified [RCV004509548]uncertain significance3129571147129571147Humanname
405651943CV3376340single nucleotide variantNM_015103.3(PLXND1):c.3587C>G (p.Thr1196Ser)not specified [RCV004509549]uncertain significance3129571053129571053Humanname
405651945CV3376341single nucleotide variantNM_015103.3(PLXND1):c.3714G>C (p.Glu1238Asp)not specified [RCV004509550]uncertain significance3129570822129570822Humanname
405651947CV3376342single nucleotide variantNM_015103.3(PLXND1):c.4056G>C (p.Lys1352Asn)not specified [RCV004509551]uncertain significance3129567522129567522Humanname
405651949CV3376343single nucleotide variantNM_015103.3(PLXND1):c.4216A>G (p.Met1406Val)not specified [RCV004509552]uncertain significance3129565993129565993Humanname
405651953CV3376345single nucleotide variantNM_015103.3(PLXND1):c.4315C>T (p.Arg1439Cys)not specified [RCV004509554]uncertain significance3129565894129565894Humanname
405651955CV3376346single nucleotide variantNM_015103.3(PLXND1):c.4667G>A (p.Arg1556Gln)not specified [RCV004509555]uncertain significance3129563095129563095Humanname
405651957CV3376347single nucleotide variantNM_015103.3(PLXND1):c.4715T>C (p.Val1572Ala)not specified [RCV004509556]uncertain significance3129562897129562897Humanname
405652125CV3376348single nucleotide variantNM_015103.3(PLXND1):c.4779G>C (p.Lys1593Asn)not specified [RCV004509557]uncertain significance3129562833129562833Humanname
405651961CV3376349single nucleotide variantNM_015103.3(PLXND1):c.4885G>A (p.Val1629Met)not specified [RCV004509558]uncertain significance3129561844129561844Humanname
405651963CV3376350single nucleotide variantNM_015103.3(PLXND1):c.4898G>A (p.Arg1633His)not specified [RCV004509559]uncertain significance3129561831129561831Humanname
407519438CV3467618single nucleotide variantNM_015103.3(PLXND1):c.4109G>A (p.Arg1370His)not specified [RCV004651495]uncertain significance3129566609129566609Humanname
407519442CV3467620single nucleotide variantNM_015103.3(PLXND1):c.4991G>A (p.Arg1664Gln)not specified [RCV004651497]uncertain significance3129561648129561648Humanname
407471646CV3467622single nucleotide variantNM_015103.3(PLXND1):c.5038A>G (p.Thr1680Ala)not specified [RCV004662334]uncertain significance3129560425129560425Humanname
407471653CV3467623single nucleotide variantNM_015103.3(PLXND1):c.4862G>A (p.Arg1621Gln)not specified [RCV004662335]uncertain significance3129561867129561867Humanname
407519444CV3467624single nucleotide variantNM_015103.3(PLXND1):c.5351A>G (p.Asp1784Gly)not specified [RCV004651498]uncertain significance3129558522129558522Humanname
407519445CV3467625single nucleotide variantNM_015103.3(PLXND1):c.3469C>G (p.Leu1157Val)not specified [RCV004651499]uncertain significance3129571171129571171Humanname
407519450CV3467628single nucleotide variantNM_015103.3(PLXND1):c.3136C>T (p.Pro1046Ser)not specified [RCV004651502]uncertain significance3129571786129571786Humanname
407519452CV3467629single nucleotide variantNM_015103.3(PLXND1):c.3169G>T (p.Val1057Leu)not specified [RCV004651503]uncertain significance3129571753129571753Humanname
596940188CV3550825single nucleotide variantNM_015103.3(PLXND1):c.5440G>A (p.Gly1814Ser)not provided [RCV004814725]uncertain significance3129558433129558433Humanname
597768636CV3580350single nucleotide variantNM_015103.3(PLXND1):c.5072G>A (p.Arg1691Gln)not specified [RCV004850727]uncertain significance3129560391129560391Humanname
597742649CV3580353single nucleotide variantNM_015103.3(PLXND1):c.3161G>A (p.Arg1054Gln)not specified [RCV004844923]uncertain significance3129571761129571761Humanname
597742654CV3580354single nucleotide variantNM_015103.3(PLXND1):c.3809C>T (p.Thr1270Met)not specified [RCV004844924]uncertain significance3129569899129569899Humanname
597742660CV3580355single nucleotide variantNM_015103.3(PLXND1):c.5537C>T (p.Thr1846Met)not specified [RCV004844925]uncertain significance3129557132129557132Humanname
597742682CV3580360single nucleotide variantNM_015103.3(PLXND1):c.3784A>G (p.Thr1262Ala)not specified [RCV004844928]uncertain significance3129569924129569924Humanname
597742694CV3580362single nucleotide variantNM_015103.3(PLXND1):c.5657C>T (p.Pro1886Leu)not specified [RCV004844930]uncertain significance3129556621129556621Humanname
597742706CV3580364single nucleotide variantNM_015103.3(PLXND1):c.3445G>A (p.Glu1149Lys)not specified [RCV004844932]uncertain significance3129571195129571195Humanname
597742712CV3580365single nucleotide variantNM_015103.3(PLXND1):c.3307G>A (p.Ala1103Thr)not specified [RCV004844933]uncertain significance3129571538129571538Humanname
597742757CV3580373single nucleotide variantNM_015103.3(PLXND1):c.4063G>A (p.Val1355Met)not specified [RCV004844940]uncertain significance3129567515129567515Humanname
597742769CV3580375single nucleotide variantNM_015103.3(PLXND1):c.5612A>G (p.Asn1871Ser)not specified [RCV004844942]uncertain significance3129556666129556666Humanname
597742775CV3580376single nucleotide variantNM_015103.3(PLXND1):c.5269G>A (p.Asp1757Asn)not specified [RCV004844943]uncertain significance3129559648129559648Humanname
597742807CV3580382single nucleotide variantNM_015103.3(PLXND1):c.3305T>C (p.Met1102Thr)not specified [RCV004844948]uncertain significance3129571540129571540Humanname
597742813CV3580383single nucleotide variantNM_015103.3(PLXND1):c.4447C>G (p.Leu1483Val)not specified [RCV004844949]uncertain significance3129565414129565414Humanname
598186031CV4003273single nucleotide variantNM_015103.3(PLXND1):c.5690C>T (p.Thr1897Met)not specified [RCV005395707]uncertain significance3129556400129556400Humanname
598186038CV4003274single nucleotide variantNM_015103.3(PLXND1):c.3791A>G (p.Gln1264Arg)not specified [RCV005395708]uncertain significance3129569917129569917Humanname
598186083CV4003279single nucleotide variantNM_015103.3(PLXND1):c.4873G>A (p.Asp1625Asn)not specified [RCV005395713]uncertain significance3129561856129561856Humanname
598186097CV4003281single nucleotide variantNM_015103.3(PLXND1):c.5680G>T (p.Ala1894Ser)not specified [RCV005395715]uncertain significance3129556410129556410Humanname
598186115CV4003283single nucleotide variantNM_015103.3(PLXND1):c.5075A>G (p.Gln1692Arg)not specified [RCV005395717]uncertain significance3129560388129560388Humanname
598186121CV4003284single nucleotide variantNM_015103.3(PLXND1):c.4388T>C (p.Met1463Thr)not specified [RCV005395718]uncertain significance3129565473129565473Humanname
598186137CV4003286single nucleotide variantNM_015103.3(PLXND1):c.4128G>C (p.Gln1376His)not specified [RCV005395720]uncertain significance3129566590129566590Humanname
598186167CV4003290single nucleotide variantNM_015103.3(PLXND1):c.3781G>A (p.Ala1261Thr)not specified [RCV005395724]uncertain significance3129569927129569927Humanname
598186184CV4003292single nucleotide variantNM_015103.3(PLXND1):c.4870G>A (p.Asp1624Asn)not specified [RCV005395726]uncertain significance3129561859129561859Humanname
598186194CV4003293single nucleotide variantNM_015103.3(PLXND1):c.4725G>A (p.Met1575Ile)not specified [RCV005395727]uncertain significance3129562887129562887Humanname
598186216CV4003296single nucleotide variantNM_015103.3(PLXND1):c.4700T>C (p.Met1567Thr)not specified [RCV005395730]uncertain significance3129562912129562912Humanname
598186224CV4003297single nucleotide variantNM_015103.3(PLXND1):c.3157C>T (p.Arg1053Cys)not specified [RCV005395731]uncertain significance3129571765129571765Humanname
15107215CV708561single nucleotide variantNM_015103.3(PLXND1):c.3505C>T (p.Arg1169Cys)PLXND1-related disorder [RCV003926119]|not provided [RCV000960245]benign3129571135129571135Human5name , trait , alternate_id
15100700CV720148single nucleotide variantNM_015103.3(PLXND1):c.5671G>A (p.Ala1891Thr)not provided [RCV000892153]likely benign3129556419129556419Humanname
15154438CV720149single nucleotide variantNM_015103.3(PLXND1):c.5032C>A (p.Leu1678Met)PLXND1-related disorder [RCV003955805]|not provided [RCV000880216]benign3129560431129560431Human1name , trait , alternate_id
15126950CV733777single nucleotide variantNM_015103.3(PLXND1):c.3641G>A (p.Arg1214Gln)PLXND1-related disorder [RCV003958071]|not provided [RCV000897020]benign3129570895129570895Human1name , trait , alternate_id
15188265CV733778single nucleotide variantNM_015103.3(PLXND1):c.3448G>T (p.Val1150Leu)PLXND1-related disorder [RCV003968366]|not provided [RCV000909320]benign|likely benign3129571192129571192Human1name , trait , alternate_id
15128880CV733780single nucleotide variantNM_015103.3(PLXND1):c.3197T>C (p.Met1066Thr)not provided [RCV000897348]likely benign3129571725129571725Humanname
21403734CV795325single nucleotide variantNM_015103.3(PLXND1):c.3080G>A (p.Arg1027His)not provided [RCV000999546]uncertain significance3129571842129571842Humanname
39456963CV966238single nucleotide variantNM_015103.3(PLXND1):c.5081A>G (p.His1694Arg)not provided [RCV001256109]|not specified [RCV002246248]uncertain significance3129560382129560382Humanname
329351252CV2419329microsatelliteNM_015103.3(PLXND1):c.880_881del (p.Gln294fs)Congenital heart defects, multiple types, 9 [RCV003155532]pathogenic3129605759129605760Humanname
150410365CV1195936deletionNM_015103.3(PLXND1):c.2695_2696del (p.Leu899fs)not provided [RCV001573053]uncertain significance3129573735129573736Humanname