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


325 records found for search term Podxl
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405277410CV3195497single nucleotide variantNM_001018111.3(PODXL):c.*6T>GPODXL-related disorder [RCV003904279]likely benign7131504305131504305Humanname , trait , alternate_id
405267244CV3202172single nucleotide variantNM_001018111.3(PODXL):c.*8T>GPODXL-related disorder [RCV003911643]likely benign7131504303131504303Humanname , trait , alternate_id
150440302CV1265090single nucleotide variantNM_001018111.3(PODXL):c.-244C>Anot provided [RCV001679083]benign7131556603131556603Humanname
150514865CV1217300single nucleotide variantNM_001018111.3(PODXL):c.706+56A>Gnot provided [RCV001608204]benign7131510772131510772Humanname
150430321CV1242929single nucleotide variantNM_001018111.3(PODXL):c.101-14A>Gnot provided [RCV001662862]benign7131511447131511447Humanname
150490694CV1279904single nucleotide variantNM_001018111.3(PODXL):c.706+52C>Anot provided [RCV001716518]benign7131510776131510776Humanname
150511516CV1284713single nucleotide variantNM_001018111.3(PODXL):c.803-48C>Tnot provided [RCV001721582]benign7131509633131509633Humanname
150442435CV1287723single nucleotide variantNM_001018111.3(PODXL):c.1311+6C>Tnot provided [RCV001725444]benign7131506254131506254Humanname
151822458CV1355291single nucleotide variantNM_001018111.3(PODXL):c.1102-3T>Cnot provided [RCV001934277]uncertain significance7131506729131506729Humanname
152046518CV1590983single nucleotide variantNM_001018111.3(PODXL):c.1311+7G>Anot provided [RCV002126705]likely benign7131506253131506253Humanname
152146258CV1599945single nucleotide variantNM_001018111.3(PODXL):c.803-17C>Tnot provided [RCV002138845]benign7131509602131509602Humanname
152080255CV1623055single nucleotide variantNM_001018111.3(PODXL):c.803-16G>Anot provided [RCV002170443]likely benign7131509601131509601Humanname
156446089CV1951160single nucleotide variantNM_001018111.3(PODXL):c.1101+8G>Cnot provided [RCV003117053]benign7131508943131508943Humanname
156405323CV1994346single nucleotide variantNM_001018111.3(PODXL):c.803-19C>Tnot provided [RCV002658279]likely benign7131509604131509604Humanname
156116048CV2016913single nucleotide variantNM_001018111.3(PODXL):c.1024-7C>Tnot provided [RCV002740016]likely benign7131509035131509035Humanname
156318423CV2137883single nucleotide variantNM_001018111.3(PODXL):c.1479+5G>AInborn genetic diseases [RCV004065066]|PODXL-related disorder [RCV003973597]|not provided [RCV002963040]likely benign|uncertain significance7131505863131505863Human1name , trait , alternate_id
155985444CV2153810single nucleotide variantNM_001018111.3(PODXL):c.101-15T>Gnot provided [RCV003016572]likely benign7131511448131511448Humanname
405138021CV2963218single nucleotide variantNM_001018111.3(PODXL):c.1101+6T>Cnot provided [RCV003668889]uncertain significance7131508945131508945Humanname
402503920CV3041835single nucleotide variantNM_001018111.3(PODXL):c.1102-4A>Gnot provided [RCV003715020]likely benign7131506730131506730Humanname
404976960CV3117438single nucleotide variantNM_001018111.3(PODXL):c.100+11G>Anot provided [RCV003825210]likely benign7131556249131556249Humanname
405069115CV3140201single nucleotide variantNM_001018111.3(PODXL):c.1480-1G>Anot provided [RCV003833356]uncertain significance7131504509131504509Humanname
597871946CV3849409single nucleotide variantNM_001018111.3(PODXL):c.803-10C>Tnot provided [RCV005197590]likely benign7131509595131509595Humanname
598203250CV3896426single nucleotide variantNM_001018111.3(PODXL):c.1311+1G>AYoung-onset Parkinson disease [RCV005356675]uncertain significance7131506259131506259Human2name
15115299CV779207single nucleotide variantNM_001018111.3(PODXL):c.1311+9C>Tnot provided [RCV000961828]benign7131506251131506251Humanname
150511056CV1213778deletionNM_001018111.3(PODXL):c.1102-70delnot provided [RCV001597847]benign7131506796131506796Humanname
150481527CV1222179single nucleotide variantNM_001018111.3(PODXL):c.1101+15G>Tnot provided [RCV001616977]benign7131508936131508936Humanname
150499131CV1224537single nucleotide variantNM_001018111.3(PODXL):c.1479+73G>Cnot provided [RCV001620368]benign7131505795131505795Humanname
150493980CV1238776single nucleotide variantNM_001018111.3(PODXL):c.1024-98G>Anot provided [RCV001655320]benign7131509126131509126Humanname
150491349CV1251177single nucleotide variantNM_001018111.3(PODXL):c.1102-51T>Cnot provided [RCV001674845]benign7131506777131506777Humanname
150453574CV1260534single nucleotide variantNM_001018111.3(PODXL):c.1024-76C>Gnot provided [RCV001681026]benign7131509104131509104Humanname
150479044CV1273400deletionNM_001018111.3(PODXL):c.1312-88delnot provided [RCV001696603]benign7131506123131506123Humanname
150454664CV1277044single nucleotide variantNM_001018111.3(PODXL):c.100+121C>Gnot provided [RCV001708835]benign7131556139131556139Humanname
152064862CV1535884single nucleotide variantNM_001018111.3(PODXL):c.1250-17G>Anot provided [RCV002168499]likely benign7131506338131506338Humanname
152162525CV1635755single nucleotide variantNM_001018111.3(PODXL):c.1480-20G>Anot provided [RCV002203681]benign7131504528131504528Humanname
156327765CV1956440single nucleotide variantNM_001018111.3(PODXL):c.1312-13A>Cnot provided [RCV002579821]likely benign7131506048131506048Humanname
402500191CV3035266single nucleotide variantNM_001018111.3(PODXL):c.1311+11C>Tnot provided [RCV003714657]likely benign7131506249131506249Humanname
405120568CV3131497single nucleotide variantNM_001018111.3(PODXL):c.1102-16G>Anot provided [RCV003837361]likely benign7131506742131506742Humanname
597929620CV3742101single nucleotide variantNM_001018111.3(PODXL):c.1102-17C>Tnot provided [RCV005075733]likely benign7131506743131506743Humanname
150450019CV1254057single nucleotide variantNM_001018111.3(PODXL):c.1479+145C>Tnot provided [RCV001667694]benign7131505723131505723Humanname
150465619CV1255063single nucleotide variantNM_001018111.3(PODXL):c.1102-206A>Gnot provided [RCV001670236]benign7131506932131506932Humanname
150470905CV1269955single nucleotide variantNM_001018111.3(PODXL):c.1102-124T>Cnot provided [RCV001695242]benign7131506850131506850Humanname
152096872CV1627982single nucleotide variantNM_001018111.3(PODXL):c.100+19825C>Tnot provided [RCV002195038]benign7131536435131536435Humanname
155989943CV1990442single nucleotide variantNM_001018111.3(PODXL):c.15G>A (p.Leu5=)not provided [RCV002617977]likely benign7131556345131556345Humanname
405131081CV2953753single nucleotide variantNM_001018111.3(PODXL):c.27G>C (p.Ala9=)not provided [RCV003672412]likely benign7131556333131556333Humanname
150446679CV1261398single nucleotide variantNM_001018111.3(PODXL):c.34C>T (p.Leu12=)not provided [RCV001680072]benign7131556326131556326Humanname
151808587CV1417899single nucleotide variantNM_001018111.3(PODXL):c.5G>A (p.Arg2His)not provided [RCV001867784]uncertain significance7131556355131556355Humanname
155967916CV2312772single nucleotide variantNM_001018111.3(PODXL):c.4C>T (p.Arg2Cys)Inborn genetic diseases [RCV002906657]uncertain significance7131556356131556356Human1name
597875663CV3775654single nucleotide variantNM_001018111.3(PODXL):c.58C>T (p.Leu20=)not provided [RCV005123385]likely benign7131556302131556302Humanname
597918973CV3781039single nucleotide variantNM_001018111.3(PODXL):c.48G>T (p.Thr16=)not provided [RCV005129921]likely benign7131556312131556312Humanname
15161948CV710777single nucleotide variantNM_001018111.3(PODXL):c.30G>A (p.Leu10=)not provided [RCV000970181]benign7131556330131556330Humanname
15202482CV722320single nucleotide variantNM_001018111.3(PODXL):c.40T>C (p.Leu14=)PODXL-related disorder [RCV003957956]|not provided [RCV000891485]benign7131556320131556320Humanname , trait , alternate_id
150466693CV1268816single nucleotide variantNM_001018111.3(PODXL):c.231G>A (p.Ser77=)not provided [RCV001694513]benign7131511303131511303Humanname
152090879CV1654930single nucleotide variantNM_001018111.3(PODXL):c.240G>A (p.Ala80=)not provided [RCV002212707]likely benign7131511294131511294Humanname
405227698CV3065600single nucleotide variantNM_001018111.3(PODXL):c.246C>T (p.Thr82=)not provided [RCV003734342]likely benign7131511288131511288Humanname
405220293CV3157743single nucleotide variantNM_001018111.3(PODXL):c.216C>T (p.Asn72=)not provided [RCV003863435]likely benign7131511318131511318Humanname
597897311CV3834710deletionNM_001018111.3(PODXL):c.1102-12_1102-8delnot provided [RCV005180621]uncertain significance7131506734131506738Humanname
15192590CV722319single nucleotide variantNM_001018111.3(PODXL):c.270G>A (p.Pro90=)PODXL-related disorder [RCV004756073]|not provided [RCV000888704]likely benign7131511264131511264Humanname , trait , alternate_id
15163395CV735963single nucleotide variantNM_001018111.3(PODXL):c.201C>T (p.Pro67=)PODXL-related disorder [RCV003968283]|not provided [RCV000903764]likely benign7131511333131511333Humanname , trait , alternate_id
151873865CV1430471single nucleotide variantNM_001018111.3(PODXL):c.73T>C (p.Ser25Pro)not provided [RCV002036013]uncertain significance7131556287131556287Humanname
151874397CV1470396single nucleotide variantNM_001018111.3(PODXL):c.651C>T (p.Ser217=)not provided [RCV001885673]likely benign|uncertain significance7131510883131510883Humanname
152049512CV1529062single nucleotide variantNM_001018111.3(PODXL):c.537G>A (p.Thr179=)not provided [RCV002166690]likely benign7131510997131510997Humanname
152171207CV1552651single nucleotide variantNM_001018111.3(PODXL):c.657G>A (p.Val219=)not provided [RCV002143373]likely benign7131510877131510877Humanname
152110937CV1581843single nucleotide variantNM_001018111.3(PODXL):c.444C>T (p.Ser148=)not provided [RCV002096840]likely benign7131511090131511090Humanname
152033426CV1610359single nucleotide variantNM_001018111.3(PODXL):c.357C>T (p.Thr119=)not provided [RCV002124931]benign7131511177131511177Humanname
152120063CV1659371single nucleotide variantNM_001018111.3(PODXL):c.900C>T (p.Ser300=)not provided [RCV002175451]likely benign7131509488131509488Humanname
156060209CV1876253single nucleotide variantNM_001018111.3(PODXL):c.909G>A (p.Thr303=)not provided [RCV003053315]likely benign7131509479131509479Humanname
156404680CV1916677single nucleotide variantNM_001018111.3(PODXL):c.930G>A (p.Leu310=)not provided [RCV002606153]benign7131509458131509458Humanname
156021898CV2081570single nucleotide variantNM_001018111.3(PODXL):c.990A>G (p.Thr330=)not provided [RCV002866649]likely benign7131509398131509398Humanname
156094814CV2114258single nucleotide variantNM_001018111.3(PODXL):c.981C>T (p.Tyr327=)PODXL-related disorder [RCV003973534]|not provided [RCV002926816]benign|likely benign7131509407131509407Humanname , trait , alternate_id
156261941CV2314800single nucleotide variantNM_001018111.3(PODXL):c.83C>T (p.Pro28Leu)Inborn genetic diseases [RCV002920557]uncertain significance7131556277131556277Human1name
405240729CV2889342single nucleotide variantNM_001018111.3(PODXL):c.951C>T (p.Ser317=)not provided [RCV003557354]likely benign7131509437131509437Humanname
405190243CV2964708single nucleotide variantNM_001018111.3(PODXL):c.456A>G (p.Ala152=)not provided [RCV003677135]likely benign7131511078131511078Humanname
405143063CV3056096single nucleotide variantNM_001018111.3(PODXL):c.333C>T (p.Gly111=)not provided [RCV003725822]likely benign7131511201131511201Humanname
405213159CV3063221single nucleotide variantNM_001018111.3(PODXL):c.702C>T (p.Thr234=)not provided [RCV003732198]likely benign7131510832131510832Humanname
405102140CV3119156single nucleotide variantNM_001018111.3(PODXL):c.612G>A (p.Ser204=)not provided [RCV003811607]likely benign7131510922131510922Humanname
405142426CV3125986single nucleotide variantNM_001018111.3(PODXL):c.591T>G (p.Pro197=)not provided [RCV003816902]benign7131510943131510943Humanname
405233873CV3145116single nucleotide variantNM_001018111.3(PODXL):c.92C>G (p.Ser31Cys)not provided [RCV003853373]uncertain significance7131556268131556268Humanname
405205473CV3165680single nucleotide variantNM_001018111.3(PODXL):c.915G>A (p.Leu305=)not provided [RCV003861346]likely benign7131509473131509473Humanname
405241917CV3173211single nucleotide variantNM_001018111.3(PODXL):c.864G>A (p.Thr288=)not provided [RCV003867496]likely benign7131509524131509524Humanname
402475561CV3173655single nucleotide variantNM_001018111.3(PODXL):c.687G>A (p.Pro229=)not provided [RCV003875193]likely benign7131510847131510847Humanname
405257816CV3207894single nucleotide variantNM_001018111.3(PODXL):c.804G>A (p.Ala268=)PODXL-related disorder [RCV003941372]|not provided [RCV005101785]likely benign7131509584131509584Humanname , trait , alternate_id
597927457CV3783466duplicationNM_001018111.3(PODXL):c.176dup (p.Asp59fs)not provided [RCV005116153]pathogenic7131511357131511358Humanname
597887038CV3804263single nucleotide variantNM_001018111.3(PODXL):c.474T>G (p.Ser158=)not provided [RCV005150714]likely benign7131511060131511060Humanname
597855718CV3816499single nucleotide variantNM_001018111.3(PODXL):c.633A>G (p.Lys211=)not provided [RCV005146071]likely benign7131510901131510901Humanname
597961929CV3840879single nucleotide variantNM_001018111.3(PODXL):c.903G>A (p.Pro301=)not provided [RCV005193172]likely benign7131509485131509485Humanname
598188322CV4003629single nucleotide variantNM_001018111.3(PODXL):c.77C>T (p.Pro26Leu)Inborn genetic diseases [RCV005396063]uncertain significance7131556283131556283Human1name
15197682CV699853single nucleotide variantNM_001018111.3(PODXL):c.480G>A (p.Gly160=)not provided [RCV000956533]likely benign7131511054131511054Humanname
15097895CV722318single nucleotide variantNM_001018111.3(PODXL):c.706C>T (p.Leu236=)not provided [RCV000891607]likely benign7131510828131510828Humanname
15156542CV735961single nucleotide variantNM_001018111.3(PODXL):c.897G>A (p.Thr299=)not provided [RCV000902349]likely benign7131509491131509491Humanname
15169130CV735962single nucleotide variantNM_001018111.3(PODXL):c.567C>G (p.Pro189=)PODXL-related disorder [RCV003910812]|not provided [RCV000904996]benign|likely benign7131510967131510967Humanname , trait , alternate_id
150443900CV1216555single nucleotide variantNM_001018111.3(PODXL):c.1410A>G (p.Ala470=)not provided [RCV001610854]benign7131505937131505937Humanname
150484995CV1250137single nucleotide variantNM_001018111.3(PODXL):c.1126T>C (p.Leu376=)not provided [RCV001673750]benign7131506702131506702Humanname
152079075CV1549911single nucleotide variantNM_001018111.3(PODXL):c.1653T>C (p.Asp551=)not provided [RCV002192798]benign7131504335131504335Humanname
152064387CV1575366single nucleotide variantNM_001018111.3(PODXL):c.1221C>A (p.Thr407=)not provided [RCV002110561]benign7131506607131506607Humanname
152170838CV1592604single nucleotide variantNM_001018111.3(PODXL):c.1287G>A (p.Lys429=)not provided [RCV002161904]likely benign7131506284131506284Humanname
152149803CV1603916single nucleotide variantNM_001018111.3(PODXL):c.1008T>G (p.Ala336=)not provided [RCV002220626]likely benign7131509380131509380Humanname
152075073CV1616611single nucleotide variantNM_001018111.3(PODXL):c.278C>G (p.Thr93Arg)Inborn genetic diseases [RCV003089083]|PODXL-related disorder [RCV003951332]|not provided [RCV002210484]likely benign|uncertain significance7131511256131511256Human1name , trait , alternate_id
152079194CV1632376single nucleotide variantNM_001018111.3(PODXL):c.1185C>T (p.Cys395=)not provided [RCV002130617]likely benign7131506643131506643Humanname
152162911CV1635817single nucleotide variantNM_001018111.3(PODXL):c.1284G>A (p.Leu428=)not provided [RCV002203743]likely benign7131506287131506287Humanname
152117080CV1645879single nucleotide variantNM_001018111.3(PODXL):c.1557T>C (p.Ser519=)not provided [RCV002175076]likely benign7131504431131504431Humanname
152172885CV1652766single nucleotide variantNM_001018111.3(PODXL):c.1635G>A (p.Leu545=)not provided [RCV002143926]likely benign7131504353131504353Humanname
156314067CV1910098single nucleotide variantNM_001018111.3(PODXL):c.1206T>C (p.Val402=)not provided [RCV002599830]likely benign7131506622131506622Humanname
156418459CV1911136single nucleotide variantNM_001018111.3(PODXL):c.206C>A (p.Ser69Tyr)not provided [RCV002611653]uncertain significance7131511328131511328Humanname
156067537CV1975506single nucleotide variantNM_001018111.3(PODXL):c.1098C>T (p.Leu366=)not provided [RCV002591175]likely benign7131508954131508954Humanname
155986093CV1979595single nucleotide variantNM_001018111.3(PODXL):c.1170G>A (p.Pro390=)not provided [RCV002617811]likely benign7131506658131506658Humanname
156105232CV1992200single nucleotide variantNM_001018111.3(PODXL):c.1071C>A (p.Leu357=)not provided [RCV002622361]uncertain significance7131508981131508981Humanname
155948675CV2029125single nucleotide variantNM_001018111.3(PODXL):c.175G>C (p.Asp59His)not provided [RCV002730554]uncertain significance7131511359131511359Humanname
156205123CV2034914single nucleotide variantNM_001018111.3(PODXL):c.1431G>A (p.Ala477=)not provided [RCV002766388]likely benign|uncertain significance7131505916131505916Humanname
156007011CV2042369single nucleotide variantNM_001018111.3(PODXL):c.294A>T (p.Gln98His)not provided [RCV002794897]uncertain significance7131511240131511240Humanname
156117208CV2042864single nucleotide variantNM_001018111.3(PODXL):c.140C>T (p.Pro47Leu)Inborn genetic diseases [RCV004064673]|not provided [RCV002800081]likely benign|uncertain significance7131511394131511394Human1name
156016461CV2044089single nucleotide variantNM_001018111.3(PODXL):c.1221C>T (p.Thr407=)not provided [RCV002795372]likely benign7131506607131506607Humanname
156082597CV2050312single nucleotide variantNM_001018111.3(PODXL):c.134C>T (p.Thr45Ile)not provided [RCV002823902]uncertain significance7131511400131511400Humanname
156213565CV2127870single nucleotide variantNM_001018111.3(PODXL):c.172A>G (p.Thr58Ala)not provided [RCV002957847]uncertain significance7131511362131511362Humanname
155946396CV2139476single nucleotide variantNM_001018111.3(PODXL):c.1425C>T (p.Leu475=)not provided [RCV002994368]benign7131505922131505922Humanname
156318731CV2161688single nucleotide variantNM_001018111.3(PODXL):c.1443C>G (p.Gly481=)not provided [RCV003046465]likely benign7131505904131505904Humanname
401744868CV2688247single nucleotide variantNM_001018111.3(PODXL):c.161C>T (p.Thr54Ile)Inborn genetic diseases [RCV003275380]uncertain significance7131511373131511373Human1name
401902944CV2797642single nucleotide variantNM_001018111.3(PODXL):c.230C>T (p.Ser77Leu)PODXL-related disorder [RCV003419153]|not provided [RCV005062910]uncertain significance7131511304131511304Humanname , trait , alternate_id
402495929CV2875230single nucleotide variantNM_001018111.3(PODXL):c.269C>T (p.Pro90Leu)not provided [RCV003545396]uncertain significance7131511265131511265Humanname
405131368CV3054588single nucleotide variantNM_001018111.3(PODXL):c.1611C>T (p.Ser537=)not provided [RCV003724737]likely benign7131504377131504377Humanname
405212085CV3063152single nucleotide variantNM_001018111.3(PODXL):c.1398C>T (p.Ile466=)not provided [RCV003732153]likely benign7131505949131505949Humanname
405005593CV3120900single nucleotide variantNM_001018111.3(PODXL):c.116C>T (p.Thr39Met)not provided [RCV003828503]uncertain significance7131511418131511418Humanname
405050589CV3138041single nucleotide variantNM_001018111.3(PODXL):c.1053A>G (p.Thr351=)not provided [RCV003832079]likely benign7131508999131508999Humanname
405185182CV3138652single nucleotide variantNM_001018111.3(PODXL):c.1524T>C (p.His508=)not provided [RCV003842864]likely benign7131504464131504464Humanname
405206625CV3162007single nucleotide variantNM_001018111.3(PODXL):c.1347G>A (p.Gly449=)not provided [RCV003861501]likely benign7131506000131506000Humanname
405261345CV3221491single nucleotide variantNM_001018111.3(PODXL):c.1461C>A (p.Leu487=)PODXL-related disorder [RCV003966968]likely benign7131505886131505886Humanname , trait , alternate_id
408366437CV3510381single nucleotide variantNM_001018111.3(PODXL):c.208A>G (p.Lys70Glu)PODXL-related disorder [RCV004756713]uncertain significance7131511326131511326Humanname , trait , alternate_id
597692229CV3590798single nucleotide variantNM_001018111.3(PODXL):c.110C>T (p.Thr37Ile)Inborn genetic diseases [RCV004954314]|not provided [RCV005107715]likely benign|uncertain significance7131511424131511424Human1name
597692237CV3590799single nucleotide variantNM_001018111.3(PODXL):c.182C>G (p.Ala61Gly)Inborn genetic diseases [RCV004954315]uncertain significance7131511352131511352Human1name
597918963CV3737907single nucleotide variantNM_001018111.3(PODXL):c.1116G>A (p.Ser372=)not provided [RCV005074506]likely benign7131506712131506712Humanname
597831902CV3740080single nucleotide variantNM_001018111.3(PODXL):c.1110C>A (p.Gly370=)not provided [RCV005062779]likely benign7131506718131506718Humanname
597877209CV3744231single nucleotide variantNM_001018111.3(PODXL):c.1152C>T (p.Val384=)not provided [RCV005069445]benign7131506676131506676Humanname
597877734CV3825834single nucleotide variantNM_001018111.3(PODXL):c.129C>A (p.Asn43Lys)not provided [RCV005177708]uncertain significance7131511405131511405Humanname
15170891CV699852single nucleotide variantNM_001018111.3(PODXL):c.1506A>G (p.Thr502=)not provided [RCV000949733]benign7131504482131504482Humanname
15151330CV710772single nucleotide variantNM_001018111.3(PODXL):c.1605G>T (p.Gly535=)not provided [RCV000968115]benign7131504383131504383Humanname
15176227CV710773single nucleotide variantNM_001018111.3(PODXL):c.1539G>A (p.Leu513=)PODXL-related disorder [RCV003972944]|not provided [RCV000973138]benign|likely benign7131504449131504449Humanname , trait , alternate_id
15101193CV722316single nucleotide variantNM_001018111.3(PODXL):c.1011T>C (p.His337=)PODXL-related disorder [RCV003950401]|not provided [RCV000892239]benign7131509377131509377Humanname , trait , alternate_id
15194791CV750430single nucleotide variantNM_001018111.3(PODXL):c.1560T>G (p.Ser520=)not provided [RCV000911225]likely benign7131504428131504428Humanname
15196328CV750431single nucleotide variantNM_001018111.3(PODXL):c.164T>G (p.Ile55Ser)PODXL-related disorder [RCV003958331]|not provided [RCV000911665]benign7131511370131511370Humanname , trait , alternate_id
150511068CV1213782single nucleotide variantNM_001018111.3(PODXL):c.334G>A (p.Gly112Ser)not provided [RCV001597851]benign7131511200131511200Humanname
150502234CV1241185single nucleotide variantNM_001018111.3(PODXL):c.581C>T (p.Ser194Leu)not provided [RCV001657081]benign7131510953131510953Humanname
150491359CV1280344single nucleotide variantNM_001018111.3(PODXL):c.892C>G (p.Pro298Ala)not provided [RCV001716630]benign7131509496131509496Humanname
151741710CV1404905single nucleotide variantNM_001018111.3(PODXL):c.642C>A (p.Ser214Arg)not provided [RCV001947161]uncertain significance7131510892131510892Humanname
151837598CV1469885single nucleotide variantNM_001018111.3(PODXL):c.536C>T (p.Thr179Met)Inborn genetic diseases [RCV002552255]|not provided [RCV001880967]uncertain significance7131510998131510998Human1name
151740665CV1475019single nucleotide variantNM_001018111.3(PODXL):c.611C>T (p.Ser204Leu)Inborn genetic diseases [RCV002563408]|not provided [RCV001968116]uncertain significance7131510923131510923Human1name
152068657CV1571247single nucleotide variantNM_001018111.3(PODXL):c.896C>T (p.Thr299Met)not provided [RCV002129310]likely benign7131509492131509492Humanname
152063769CV1587902single nucleotide variantNM_001018111.3(PODXL):c.890A>G (p.Gln297Arg)not provided [RCV002090594]likely benign7131509498131509498Humanname
152104669CV1609371single nucleotide variantNM_001018111.3(PODXL):c.856A>G (p.Ser286Gly)not provided [RCV002115788]benign7131509532131509532Humanname
155749477CV1778151single nucleotide variantNM_001018111.3(PODXL):c.478G>T (p.Gly160Trp)not provided [RCV002304692]uncertain significance7131511056131511056Humanname
156183051CV1884754single nucleotide variantNM_001018111.3(PODXL):c.319G>A (p.Val107Met)Inborn genetic diseases [RCV004071685]|not provided [RCV003083624]uncertain significance7131511215131511215Human1name
155971039CV1885076single nucleotide variantNM_001018111.3(PODXL):c.863C>T (p.Thr288Met)Inborn genetic diseases [RCV003367976]|not provided [RCV003075180]likely benign|uncertain significance7131509525131509525Human1name
156129481CV1921595single nucleotide variantNM_001018111.3(PODXL):c.584C>T (p.Thr195Met)not provided [RCV002623255]benign7131510950131510950Humanname
156205451CV1959253single nucleotide variantNM_001018111.3(PODXL):c.562A>G (p.Ser188Gly)not provided [RCV002574940]uncertain significance7131510972131510972Humanname
156013636CV1986143single nucleotide variantNM_001018111.3(PODXL):c.967A>G (p.Thr323Ala)not provided [RCV002636351]uncertain significance7131509421131509421Humanname
155914963CV2021968single nucleotide variantNM_001018111.3(PODXL):c.377C>G (p.Thr126Arg)not provided [RCV002727078]uncertain significance7131511157131511157Humanname
155935471CV2045711single nucleotide variantNM_001018111.3(PODXL):c.686C>T (p.Pro229Leu)Inborn genetic diseases [RCV002751423]|not provided [RCV002751424]uncertain significance7131510848131510848Human1name
156198789CV2062842single nucleotide variantNM_001018111.3(PODXL):c.596C>T (p.Ala199Val)not provided [RCV002828862]uncertain significance7131510938131510938Humanname
156217953CV2132575single nucleotide variantNM_001018111.3(PODXL):c.382A>T (p.Ser128Cys)not provided [RCV003007261]uncertain significance7131511152131511152Humanname
11051366CV215778single nucleotide variantNM_001018111.3(PODXL):c.977G>A (p.Arg326Gln)Parkinson disease, late-onset [RCV000210037]|not provided [RCV002515511]uncertain significance7131509411131509411Human1name
156248226CV2221980single nucleotide variantNM_001018111.3(PODXL):c.439A>C (p.Ser147Arg)Inborn genetic diseases [RCV002713811]uncertain significance7131511095131511095Human1name
155921170CV2240486single nucleotide variantNM_001018111.3(PODXL):c.629T>A (p.Met210Lys)Inborn genetic diseases [RCV002773025]uncertain significance7131510905131510905Human1name
156284893CV2317587single nucleotide variantNM_001018111.3(PODXL):c.571C>A (p.Gln191Lys)Inborn genetic diseases [RCV002935176]uncertain significance7131510963131510963Human1name
155937164CV2379972single nucleotide variantNM_001018111.3(PODXL):c.953C>T (p.Pro318Leu)Inborn genetic diseases [RCV002685058]uncertain significance7131509435131509435Human1name
329387628CV2464183single nucleotide variantNM_001018111.3(PODXL):c.887T>C (p.Val296Ala)Inborn genetic diseases [RCV003215240]uncertain significance7131509501131509501Human1name
329393467CV2467002single nucleotide variantNM_001018111.3(PODXL):c.854C>T (p.Ala285Val)Inborn genetic diseases [RCV003218299]uncertain significance7131509534131509534Human1name
401784186CV2721128single nucleotide variantNM_001018111.3(PODXL):c.908C>T (p.Thr303Met)Inborn genetic diseases [RCV003310335]likely benign7131509480131509480Human1name
401922761CV2823168single nucleotide variantNM_001018111.3(PODXL):c.745G>A (p.Glu249Lys)not provided [RCV003434135]uncertain significance7131510293131510293Humanname
405194373CV2872435deletionNM_001018111.3(PODXL):c.1384del (p.Leu462fs)not provided [RCV003550701]uncertain significance7131505963131505963Humanname
402502301CV3035609single nucleotide variantNM_001018111.3(PODXL):c.341G>T (p.Gly114Val)not provided [RCV003714869]uncertain significance7131511193131511193Humanname
405163785CV3059376single nucleotide variantNM_001018111.3(PODXL):c.460G>A (p.Asp154Asn)not provided [RCV003727284]uncertain significance7131511074131511074Humanname
405089490CV3118417single nucleotide variantNM_001018111.3(PODXL):c.392C>T (p.Thr131Ile)not provided [RCV003811059]uncertain significance7131511142131511142Humanname
405125099CV3126402single nucleotide variantNM_001018111.3(PODXL):c.547C>G (p.Pro183Ala)not provided [RCV003815154]uncertain significance7131510987131510987Humanname
405093576CV3134554single nucleotide variantNM_001018111.3(PODXL):c.307G>T (p.Val103Phe)not provided [RCV003834900]uncertain significance7131511227131511227Humanname
404986186CV3135427single nucleotide variantNM_001018111.3(PODXL):c.991C>T (p.Pro331Ser)not provided [RCV003826722]uncertain significance7131509397131509397Humanname
405152014CV3138271single nucleotide variantNM_001018111.3(PODXL):c.568C>T (p.Arg190Ter)not provided [RCV003840131]pathogenic7131510966131510966Humanname
405173513CV3151819single nucleotide variantNM_001018111.3(PODXL):c.668G>A (p.Gly223Asp)not provided [RCV003857970]uncertain significance7131510866131510866Humanname
405163838CV3160382single nucleotide variantNM_001018111.3(PODXL):c.488G>A (p.Ser163Asn)not provided [RCV003857261]likely benign7131511046131511046Humanname
405658431CV3376769single nucleotide variantNM_001018111.3(PODXL):c.344A>C (p.Asn115Thr)Inborn genetic diseases [RCV004512068]uncertain significance7131511190131511190Human1name
405658441CV3376772single nucleotide variantNM_001018111.3(PODXL):c.989C>T (p.Thr330Ile)Inborn genetic diseases [RCV004512071]likely benign7131509399131509399Human1name
407524219CV3463900single nucleotide variantNM_001018111.3(PODXL):c.479G>T (p.Gly160Val)Inborn genetic diseases [RCV004653601]uncertain significance7131511055131511055Human1name
596924543CV3536659single nucleotide variantNM_001018111.3(PODXL):c.922C>T (p.Pro308Ser)Nephrotic syndrome [RCV004790069]uncertain significance7131509466131509466Human2name
597692240CV3590800single nucleotide variantNM_001018111.3(PODXL):c.809C>T (p.Ser270Leu)Inborn genetic diseases [RCV004954316]uncertain significance7131509579131509579Human1name
597850563CV3761796single nucleotide variantNM_001018111.3(PODXL):c.917G>A (p.Arg306Lys)not provided [RCV005087892]uncertain significance7131509471131509471Humanname
597936293CV3764820single nucleotide variantNM_001018111.3(PODXL):c.811G>T (p.Val271Phe)not provided [RCV005117519]uncertain significance7131509577131509577Humanname
597964000CV3837822single nucleotide variantNM_001018111.3(PODXL):c.569G>A (p.Arg190Gln)not provided [RCV005193806]uncertain significance7131510965131510965Humanname
598188303CV4003625single nucleotide variantNM_001018111.3(PODXL):c.899G>T (p.Ser300Ile)Inborn genetic diseases [RCV005396059]uncertain significance7131509489131509489Human1name
598188317CV4003628single nucleotide variantNM_001018111.3(PODXL):c.653C>T (p.Thr218Ile)Inborn genetic diseases [RCV005396062]uncertain significance7131510881131510881Human1name
13445968CV438372single nucleotide variantNM_001018111.3(PODXL):c.376A>C (p.Thr126Pro)not provided [RCV000513099]benign|conflicting interpretations of pathogenicity|uncertain significance7131511158131511158Humanname
15134024CV710775deletionNM_001018111.3(PODXL):c.78_79del (p.Ser27fs)not provided [RCV000965054]benign7131556281131556282Humanname
15134027CV710776deletionNM_001018111.3(PODXL):c.73_76del (p.Ser25fs)not provided [RCV000965055]benign7131556284131556287Humanname
15159904CV722317single nucleotide variantNM_001018111.3(PODXL):c.818C>T (p.Ser273Leu)PODXL-related disorder [RCV003967987]|not provided [RCV000881282]likely benign7131509570131509570Humanname , trait , alternate_id
150514026CV1228018single nucleotide variantNM_001018111.3(PODXL):c.1072G>A (p.Val358Ile)PODXL-related disorder [RCV003921282]|not provided [RCV001638296]benign7131508980131508980Human1name , trait , alternate_id
150514026CV1228018single nucleotide variantNM_001018111.3(PODXL):c.1072G>A (p.Val358Ile)PODXL-related disorder [RCV003921282]|not provided [RCV001638296]benign7131508980131508981Human1name , trait , alternate_id
151758411CV1342931single nucleotide variantNM_001018111.3(PODXL):c.1267G>A (p.Asp423Asn)Inborn genetic diseases [RCV003289399]|not provided [RCV002024086]uncertain significance7131506304131506304Human1name
151861038CV1364865single nucleotide variantNM_001018111.3(PODXL):c.1169C>G (p.Pro390Arg)not provided [RCV002017758]uncertain significance7131506659131506659Humanname
151874634CV1388203single nucleotide variantNM_001018111.3(PODXL):c.1145G>A (p.Arg382Gln)not provided [RCV001981744]uncertain significance7131506683131506683Humanname
151810096CV1393329single nucleotide variantNM_001018111.3(PODXL):c.1642G>A (p.Asp548Asn)Inborn genetic diseases [RCV002564385]|not provided [RCV001953729]likely benign|uncertain significance7131504346131504346Human1name
151768433CV1409531single nucleotide variantNM_001018111.3(PODXL):c.1220C>T (p.Thr407Ile)Inborn genetic diseases [RCV004955746]|not provided [RCV001896095]uncertain significance7131506608131506608Human1name
151824552CV1506968single nucleotide variantNM_001018111.3(PODXL):c.1218G>T (p.Gln406His)not provided [RCV001955093]uncertain significance7131506610131506610Humanname
152132318CV1522038single nucleotide variantNM_001018111.3(PODXL):c.1607A>G (p.Asp536Gly)not provided [RCV002199485]likely benign7131504381131504381Humanname
152157523CV1541791single nucleotide variantNM_001018111.3(PODXL):c.1280G>A (p.Arg427Gln)Inborn genetic diseases [RCV003015266]|not provided [RCV002103159]likely benign|uncertain significance7131506291131506291Human1name
152095277CV1575137single nucleotide variantNM_001018111.3(PODXL):c.1299T>G (p.Asp433Glu)PODXL-related disorder [RCV003923730]|not provided [RCV002132542]likely benign7131506272131506272Human1name , trait , alternate_id
152095277CV1575137single nucleotide variantNM_001018111.3(PODXL):c.1299T>G (p.Asp433Glu)PODXL-related disorder [RCV003923730]|not provided [RCV002132542]likely benign7131506272131506273Human1name , trait , alternate_id
152110243CV1603445single nucleotide variantNM_001018111.3(PODXL):c.1618G>A (p.Val540Ile)PODXL-related disorder [RCV003968694]|not provided [RCV002096751]likely benign7131504370131504370Humanname , trait , alternate_id
10042296CV187218single nucleotide variantNM_001018111.3(PODXL):c.1421T>G (p.Leu474Arg)not provided [RCV000169746]uncertain significance|not provided7131505926131505926Humanname
156390716CV1964825single nucleotide variantNM_001018111.3(PODXL):c.1564A>G (p.Met522Val)Inborn genetic diseases [RCV002583843]|not provided [RCV002588909]uncertain significance7131504424131504424Human1name
156416138CV1984007single nucleotide variantNM_001018111.3(PODXL):c.1457G>A (p.Arg486His)not provided [RCV002610014]uncertain significance7131505890131505890Humanname
156012347CV1986026single nucleotide variantNM_001018111.3(PODXL):c.1537C>A (p.Leu513Met)not provided [RCV002636289]uncertain significance7131504451131504451Humanname
155999107CV1987069single nucleotide variantNM_001018111.3(PODXL):c.1222G>A (p.Val408Met)not provided [RCV002618363]uncertain significance7131506606131506606Humanname
156304606CV1999757single nucleotide variantNM_001018111.3(PODXL):c.1606G>A (p.Asp536Asn)not provided [RCV002671321]uncertain significance7131504382131504382Humanname
156152044CV2049137single nucleotide variantNM_001018111.3(PODXL):c.1474G>A (p.Asp492Asn)not provided [RCV002801323]uncertain significance7131505873131505873Humanname
156110553CV2077698single nucleotide variantNM_001018111.3(PODXL):c.1185C>A (p.Cys395Ter)not provided [RCV002889170]pathogenic7131506643131506643Humanname
155993270CV2095599single nucleotide variantNM_001018111.3(PODXL):c.1108G>A (p.Gly370Ser)not provided [RCV002908263]uncertain significance7131506720131506720Humanname
156109082CV2096622single nucleotide variantNM_001018111.3(PODXL):c.1186G>A (p.Gly396Ser)Inborn genetic diseases [RCV005399008]|PODXL-related disorder [RCV003906301]|not provided [RCV002913704]likely benign7131506642131506642Human1name , trait , alternate_id
156216453CV2110996single nucleotide variantNM_001018111.3(PODXL):c.1640A>G (p.Lys547Arg)Inborn genetic diseases [RCV005399011]|not provided [RCV002932279]likely benign|uncertain significance7131504348131504348Human1name
156021824CV2111089single nucleotide variantNM_001018111.3(PODXL):c.1015A>T (p.Ser339Cys)not provided [RCV002909650]likely benign7131509373131509373Humanname
155956428CV2120433single nucleotide variantNM_001018111.3(PODXL):c.1096C>T (p.Leu366Phe)Inborn genetic diseases [RCV004068349]|not provided [RCV002972148]uncertain significance7131508956131508956Human1name
11051367CV215776single nucleotide variantNM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr)Parkinson disease, late-onset [RCV000210042]uncertain significance7131505966131505966Human1name
11051368CV215777single nucleotide variantNM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn)Parkinson disease, late-onset [RCV000210043]uncertain significance7131506614131506614Human1name
156272888CV2247540single nucleotide variantNM_001018111.3(PODXL):c.1193G>A (p.Arg398Gln)Inborn genetic diseases [RCV002792588]likely benign7131506635131506635Human1name
156229421CV2267648single nucleotide variantNM_001018111.3(PODXL):c.1637C>T (p.Thr546Ile)Inborn genetic diseases [RCV002853531]uncertain significance7131504351131504351Human1name
156168745CV2345464single nucleotide variantNM_001018111.3(PODXL):c.1576A>G (p.Lys526Glu)Inborn genetic diseases [RCV002983363]uncertain significance7131504412131504412Human1name
155986099CV2345465single nucleotide variantNM_001018111.3(PODXL):c.1577A>T (p.Lys526Met)Inborn genetic diseases [RCV002974283]uncertain significance7131504411131504411Human1name
401757655CV2731376single nucleotide variantNM_001018111.3(PODXL):c.1652A>G (p.Asp551Gly)Inborn genetic diseases [RCV003297804]|not provided [RCV003777265]uncertain significance7131504336131504336Human1name
401874571CV2759271single nucleotide variantNM_001018111.3(PODXL):c.1484G>A (p.Arg495Gln)Inborn genetic diseases [RCV003347353]uncertain significance7131504504131504504Human1name
405204836CV2858672single nucleotide variantNM_001018111.3(PODXL):c.1483C>T (p.Arg495Trp)not provided [RCV003551809]uncertain significance7131504505131504505Humanname
405170154CV3029114single nucleotide variantNM_001018111.3(PODXL):c.1352C>T (p.Pro451Leu)not provided [RCV003704499]likely benign7131505995131505995Humanname
405216173CV3055617single nucleotide variantNM_001018111.3(PODXL):c.1426G>A (p.Val476Met)not provided [RCV003732684]uncertain significance7131505921131505921Humanname
405199618CV3056608single nucleotide variantNM_001018111.3(PODXL):c.1399G>A (p.Val467Ile)Inborn genetic diseases [RCV004374111]|not provided [RCV003730590]uncertain significance7131505948131505948Human1name
405140372CV3155237single nucleotide variantNM_001018111.3(PODXL):c.1115C>T (p.Ser372Leu)not provided [RCV003855475]uncertain significance7131506713131506713Humanname
405658423CV3376767single nucleotide variantNM_001018111.3(PODXL):c.1450C>T (p.His484Tyr)Inborn genetic diseases [RCV004512066]uncertain significance7131505897131505897Human1name
405658428CV3376768single nucleotide variantNM_001018111.3(PODXL):c.1456C>T (p.Arg486Cys)Inborn genetic diseases [RCV004512067]uncertain significance7131505891131505891Human1name
597692248CV3590801single nucleotide variantNM_001018111.3(PODXL):c.1349C>T (p.Pro450Leu)Inborn genetic diseases [RCV004954317]uncertain significance7131505998131505998Human1name
597855435CV3821741single nucleotide variantNM_001018111.3(PODXL):c.1342C>G (p.Gln448Glu)not provided [RCV005174219]uncertain significance7131506005131506005Humanname
597921069CV3842839single nucleotide variantNM_001018111.3(PODXL):c.1548G>A (p.Met516Ile)not provided [RCV005184324]uncertain significance7131504440131504440Humanname
598188297CV4003624single nucleotide variantNM_001018111.3(PODXL):c.1166A>G (p.Asn389Ser)Inborn genetic diseases [RCV005396058]uncertain significance7131506662131506662Human1name
598188309CV4003626single nucleotide variantNM_001018111.3(PODXL):c.1587C>A (p.Ser529Arg)Inborn genetic diseases [RCV005396060]uncertain significance7131504401131504401Human1name
598188312CV4003627single nucleotide variantNM_001018111.3(PODXL):c.1109G>A (p.Gly370Asp)Inborn genetic diseases [RCV005396061]uncertain significance7131506719131506719Human1name
15151336CV710774single nucleotide variantNM_001018111.3(PODXL):c.1111G>A (p.Ala371Thr)not provided [RCV000968116]benign7131506717131506717Humanname
15159898CV722315single nucleotide variantNM_001018111.3(PODXL):c.1169C>T (p.Pro390Leu)Inborn genetic diseases [RCV005392500]|PODXL-related disorder [RCV003975527]|not provided [RCV000881281]likely benign|uncertain significance7131506659131506659Human1name , trait , alternate_id
15147630CV735960single nucleotide variantNM_001018111.3(PODXL):c.1276G>A (p.Glu426Lys)PODXL-related disorder [RCV003975726]|not provided [RCV000900559]likely benign7131506295131506295Humanname , trait , alternate_id
8632340CV87548single nucleotide variantNM_001018111.2(PODXL):c.1300G>A (p.Glu434Lys)Malignant melanoma [RCV000067639]not provided7131506271131506271Humanname
127231495CV1053883microsatelliteNM_001018111.3(PODXL):c.66GTCGCC[3] (p.24PS[3])not provided [RCV001376146]benign7131556271131556276Humanname
150491033CV1267711microsatelliteNM_001018111.3(PODXL):c.66GTCGCC[2] (p.24PS[2])PODXL-related disorder [RCV003975975]|not provided [RCV001687735]benign|likely benign7131556271131556282Humanname , trait , alternate_id
150520745CV1289884microsatelliteNM_001018111.3(PODXL):c.66GTCGCC[5] (p.24PS[5])Nephrotic syndrome [RCV003994323]|PODXL-related disorder [RCV004756281]|not provided [RCV002073420]|not specified [RCV001730256]benign7131556270131556271Humanname , trait , alternate_id
151869290CV1497663microsatelliteNM_001018111.3(PODXL):c.66GTCGCC[6] (p.24PS[6])not provided [RCV001960218]uncertain significance7131556270131556271Humanname
597897319CV3834711indelNM_001018111.3(PODXL):c.1102-17_1102-15delinsGAGnot provided [RCV005180622]uncertain significance7131506741131506743Humanname
127256655CV1061017deletionNM_001018111.3(PODXL):c.1116_1123del (p.Asp373fs)not provided [RCV001386589]pathogenic7131506705131506712Humanname
156045147CV1927065deletionNM_001018111.3(PODXL):c.1570_1572del (p.Glu524del)not provided [RCV002637730]likely benign7131504416131504418Humanname
151863293CV1374378duplicationNM_001018111.3(PODXL):c.69_89dup (p.Pro24_Pro30dup)not provided [RCV001884215]uncertain significance7131556270131556271Humanname
156237140CV2158244deletionNM_001018111.3(PODXL):c.59_70del (p.Leu20_Ser23del)not provided [RCV003025868]uncertain significance7131556290131556301Humanname
405068998CV2875590deletionNM_001018111.3(PODXL):c.70_84del (p.Pro24_Pro28del)PODXL-related disorder [RCV003946657]|not provided [RCV003548359]likely benign|uncertain significance7131556276131556290Humanname , trait , alternate_id
11050654CV215779insertionNM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)Autosomal recessive juvenile Parkinson disease 2 [RCV000210039]|not provided [RCV000585870]likely pathogenic|uncertain significance7131556270131556271Human1name
151801056CV1405424indelNM_001018111.3(PODXL):c.888_889delinsTT (p.Gln297Ter)not provided [RCV001899064]pathogenic7131509499131509500Humanname
402475129CV2863710microsatelliteNM_001018111.3(PODXL):c.66GTCGCC[7] (p.Ser31_Gln32insProSerProSerProSer)not provided [RCV003543242]uncertain significance7131556270131556271Humanname
156358751CV2328065single nucleotide variantNM_015720.4(PODXL2):c.7C>T (p.Arg3Trp)not specified [RCV004173188]uncertain significance3127629226127629226Humanname
401730524CV2677210single nucleotide variantNM_015720.4(PODXL2):c.5G>A (p.Gly2Asp)not specified [RCV004295837]uncertain significance3127629224127629224Humanname
155989505CV2251323single nucleotide variantNM_015720.4(PODXL2):c.25C>T (p.Arg9Trp)not specified [RCV004115531]uncertain significance3127629244127629244Humanname
329394259CV2469780single nucleotide variantNM_015720.4(PODXL2):c.65T>G (p.Val22Gly)not specified [RCV004285279]uncertain significance3127629284127629284Humanname
401912527CV2824891single nucleotide variantNM_015720.4(PODXL2):c.1077C>T (p.Leu359=)not provided [RCV003427340]likely benign3127661105127661105Humanname
405658476CV3373222single nucleotide variantNM_015720.4(PODXL2):c.230C>G (p.Pro77Arg)not specified [RCV004512083]uncertain significance3127639404127639404Humanname
597744543CV3590804single nucleotide variantNM_015720.4(PODXL2):c.187G>A (p.Glu63Lys)not specified [RCV004845250]uncertain significance3127639361127639361Humanname
155917992CV2195632single nucleotide variantNM_015720.4(PODXL2):c.748C>G (p.Pro250Ala)not specified [RCV004082839]uncertain significance3127660776127660776Humanname
156083296CV2205503single nucleotide variantNM_015720.4(PODXL2):c.689C>T (p.Ser230Leu)not specified [RCV004082438]uncertain significance3127660717127660717Humanname
156047264CV2268738single nucleotide variantNM_015720.4(PODXL2):c.814G>T (p.Ala272Ser)not specified [RCV004124133]uncertain significance3127660842127660842Humanname
156208353CV2298115single nucleotide variantNM_015720.4(PODXL2):c.839A>C (p.Glu280Ala)not specified [RCV004159781]uncertain significance3127660867127660867Humanname
156053002CV2312406single nucleotide variantNM_015720.4(PODXL2):c.927C>A (p.Phe309Leu)not specified [RCV004167097]uncertain significance3127660955127660955Humanname
156086822CV2341094single nucleotide variantNM_015720.4(PODXL2):c.676G>A (p.Gly226Arg)not specified [RCV004181575]uncertain significance3127660704127660704Humanname
155990742CV2352536single nucleotide variantNM_015720.4(PODXL2):c.961C>G (p.Pro321Ala)not specified [RCV004203038]uncertain significance3127660989127660989Humanname
156141526CV2358413single nucleotide variantNM_015720.4(PODXL2):c.605A>G (p.Gln202Arg)not specified [RCV004207307]uncertain significance3127660633127660633Humanname
329398042CV2466569single nucleotide variantNM_015720.4(PODXL2):c.868A>G (p.Thr290Ala)not specified [RCV004274104]uncertain significance3127660896127660896Humanname
401749209CV2694588single nucleotide variantNM_015720.4(PODXL2):c.649G>A (p.Ala217Thr)not specified [RCV004298709]uncertain significance3127660677127660677Humanname
401750533CV2701326single nucleotide variantNM_015720.4(PODXL2):c.977T>C (p.Leu326Pro)not specified [RCV004311701]uncertain significance3127661005127661005Humanname
401776832CV2711413single nucleotide variantNM_015720.4(PODXL2):c.581G>A (p.Gly194Glu)not specified [RCV004313167]uncertain significance3127660609127660609Humanname
401880111CV2766129single nucleotide variantNM_015720.4(PODXL2):c.662G>A (p.Arg221Lys)not specified [RCV004340583]likely benign3127660690127660690Humanname
401894357CV2780802single nucleotide variantNM_015720.4(PODXL2):c.794C>T (p.Ala265Val)not specified [RCV004352122]uncertain significance3127660822127660822Humanname
405658479CV3373223single nucleotide variantNM_015720.4(PODXL2):c.397A>G (p.Thr133Ala)not specified [RCV004512084]uncertain significance3127660425127660425Humanname
405658481CV3373224single nucleotide variantNM_015720.4(PODXL2):c.398C>G (p.Thr133Ser)not specified [RCV004512085]uncertain significance3127660426127660426Humanname
405658484CV3373225single nucleotide variantNM_015720.4(PODXL2):c.421A>G (p.Asn141Asp)not specified [RCV004512086]uncertain significance3127660449127660449Humanname
405658490CV3373227single nucleotide variantNM_015720.4(PODXL2):c.755C>T (p.Thr252Ile)not specified [RCV004512088]uncertain significance3127660783127660783Humanname
405658491CV3373228single nucleotide variantNM_015720.4(PODXL2):c.793G>T (p.Ala265Ser)not specified [RCV004512089]uncertain significance3127660821127660821Humanname
407524221CV3463901single nucleotide variantNM_015720.4(PODXL2):c.992C>T (p.Ser331Leu)not specified [RCV004653602]uncertain significance3127661020127661020Humanname
597744539CV3590802single nucleotide variantNM_015720.4(PODXL2):c.955G>A (p.Glu319Lys)not specified [RCV004845249]uncertain significance3127660983127660983Humanname
597744560CV3590807single nucleotide variantNM_015720.4(PODXL2):c.838G>A (p.Glu280Lys)not specified [RCV004845253]uncertain significance3127660866127660866Humanname
597744571CV3590809single nucleotide variantNM_015720.4(PODXL2):c.781A>C (p.Thr261Pro)not specified [RCV004845255]uncertain significance3127660809127660809Humanname
597744575CV3590810single nucleotide variantNM_015720.4(PODXL2):c.614A>G (p.Asp205Gly)not specified [RCV004845256]uncertain significance3127660642127660642Humanname
598188328CV4003630single nucleotide variantNM_015720.4(PODXL2):c.606G>C (p.Gln202His)not specified [RCV005396064]uncertain significance3127660634127660634Humanname
598188355CV4003635single nucleotide variantNM_015720.4(PODXL2):c.386C>A (p.Ser129Tyr)not specified [RCV005396069]uncertain significance3127660414127660414Humanname
598188361CV4003636single nucleotide variantNM_015720.4(PODXL2):c.434C>T (p.Pro145Leu)not specified [RCV005396070]uncertain significance3127660462127660462Humanname
598188377CV4003638single nucleotide variantNM_015720.4(PODXL2):c.536A>C (p.Glu179Ala)not specified [RCV005396072]uncertain significance3127660564127660564Humanname
598188384CV4003639single nucleotide variantNM_015720.4(PODXL2):c.965A>T (p.Asp322Val)not specified [RCV005396073]uncertain significance3127660993127660993Humanname
156029007CV2238277single nucleotide variantNM_015720.4(PODXL2):c.1085G>A (p.Gly362Glu)not specified [RCV004113357]uncertain significance3127661113127661113Humanname
155988926CV2259625single nucleotide variantNM_015720.4(PODXL2):c.1765G>A (p.Gly589Ser)not specified [RCV004116664]uncertain significance3127672427127672427Humanname
156260017CV2277881single nucleotide variantNM_015720.4(PODXL2):c.1766G>A (p.Gly589Asp)not specified [RCV004147291]uncertain significance3127672428127672428Humanname
155966069CV2304700single nucleotide variantNM_015720.4(PODXL2):c.1010C>G (p.Ala337Gly)not specified [RCV004166861]uncertain significance3127661038127661038Humanname
156082352CV2333541single nucleotide variantNM_015720.4(PODXL2):c.1782G>T (p.Glu594Asp)not specified [RCV004190228]uncertain significance3127672444127672444Humanname
155990490CV2372059single nucleotide variantNM_015720.4(PODXL2):c.1450A>G (p.Thr484Ala)not specified [RCV004221728]uncertain significance3127671458127671458Humanname
156215330CV2385982single nucleotide variantNM_015720.4(PODXL2):c.1612G>A (p.Gly538Ser)not specified [RCV004229052]uncertain significance3127672274127672274Humanname
329395438CV2458370single nucleotide variantNM_015720.4(PODXL2):c.1763G>C (p.Gly588Ala)not specified [RCV004266008]uncertain significance3127672425127672425Humanname
401740481CV2681431single nucleotide variantNM_015720.4(PODXL2):c.1483C>G (p.Arg495Gly)not specified [RCV004291974]uncertain significance3127671491127671491Humanname
401756213CV2687034single nucleotide variantNM_015720.4(PODXL2):c.1018G>A (p.Asp340Asn)not specified [RCV004304356]uncertain significance3127661046127661046Humanname
401777408CV2707947single nucleotide variantNM_015720.4(PODXL2):c.1498A>G (p.Thr500Ala)not specified [RCV004309211]uncertain significance3127671506127671506Humanname
401762058CV2722623single nucleotide variantNM_015720.4(PODXL2):c.1070A>G (p.Gln357Arg)not specified [RCV004325080]uncertain significance3127661098127661098Humanname
401865987CV2762480single nucleotide variantNM_015720.4(PODXL2):c.1051G>A (p.Gly351Arg)not specified [RCV004338016]uncertain significance3127661079127661079Humanname
401875455CV2766063single nucleotide variantNM_015720.4(PODXL2):c.1366G>A (p.Val456Met)not specified [RCV004340521]uncertain significance3127669143127669143Humanname
401881775CV2784819single nucleotide variantNM_015720.4(PODXL2):c.1649A>T (p.Asp550Val)not specified [RCV004352608]uncertain significance3127672311127672311Humanname
405658450CV3373213single nucleotide variantNM_015720.4(PODXL2):c.1465G>C (p.Ala489Pro)not specified [RCV004512074]uncertain significance3127671473127671473Humanname
405658454CV3373214single nucleotide variantNM_015720.4(PODXL2):c.1507G>A (p.Val503Met)not specified [RCV004512075]uncertain significance3127671515127671515Humanname
405658457CV3373215single nucleotide variantNM_015720.4(PODXL2):c.1603G>A (p.Val535Met)not specified [RCV004512076]uncertain significance3127671611127671611Humanname
405658460CV3373216single nucleotide variantNM_015720.4(PODXL2):c.1625G>A (p.Arg542His)not specified [RCV004512077]uncertain significance3127672287127672287Humanname
405658466CV3373218single nucleotide variantNM_015720.4(PODXL2):c.1692G>T (p.Met564Ile)not specified [RCV004512079]uncertain significance3127672354127672354Humanname
405658469CV3373219single nucleotide variantNM_015720.4(PODXL2):c.1695G>C (p.Gln565His)not specified [RCV004512080]uncertain significance3127672357127672357Humanname
405658471CV3373220single nucleotide variantNM_015720.4(PODXL2):c.1705C>T (p.Pro569Ser)not specified [RCV004512081]uncertain significance3127672367127672367Humanname
405658473CV3373221single nucleotide variantNM_015720.4(PODXL2):c.1710C>G (p.Ser570Arg)not specified [RCV004512082]uncertain significance3127672372127672372Humanname
405658446CV3376773single nucleotide variantNM_015720.4(PODXL2):c.1073A>G (p.Gln358Arg)not specified [RCV004512072]uncertain significance3127661101127661101Humanname
407472039CV3463902single nucleotide variantNM_015720.4(PODXL2):c.1129C>A (p.Gln377Lys)not specified [RCV004662428]uncertain significance3127661157127661157Humanname
407524223CV3463903single nucleotide variantNM_015720.4(PODXL2):c.1004C>A (p.Pro335Gln)not specified [RCV004653603]uncertain significance3127661032127661032Humanname
407472045CV3463904single nucleotide variantNM_015720.4(PODXL2):c.1277G>A (p.Ser426Asn)not specified [RCV004662429]uncertain significance3127668511127668511Humanname
407472050CV3463905single nucleotide variantNM_015720.4(PODXL2):c.1483C>T (p.Arg495Cys)not specified [RCV004662430]uncertain significance3127671491127671491Humanname
597744596CV3590803single nucleotide variantNM_015720.4(PODXL2):c.1321G>A (p.Glu441Lys)not specified [RCV004845260]uncertain significance3127668555127668555Humanname
597744550CV3590805single nucleotide variantNM_015720.4(PODXL2):c.1791C>G (p.Asp597Glu)not specified [RCV004845251]uncertain significance3127672453127672453Humanname
597744554CV3590806single nucleotide variantNM_015720.4(PODXL2):c.1100C>G (p.Ala367Gly)not specified [RCV004845252]uncertain significance3127661128127661128Humanname
598188342CV4003633single nucleotide variantNM_015720.4(PODXL2):c.1469G>A (p.Arg490Gln)not specified [RCV005396067]uncertain significance3127671477127671477Humanname
598188348CV4003634single nucleotide variantNM_015720.4(PODXL2):c.1409G>A (p.Arg470His)not specified [RCV005396068]uncertain significance3127669186127669186Humanname
598188369CV4003637single nucleotide variantNM_015720.4(PODXL2):c.1501C>T (p.Leu501Phe)not specified [RCV005396071]uncertain significance3127671509127671509Humanname
598188391CV4003640single nucleotide variantNM_015720.4(PODXL2):c.1382A>T (p.Asp461Val)not specified [RCV005396074]uncertain significance3127669159127669159Humanname