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


104 records found for search term Pcsk5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15154979CV744519single nucleotide variantNM_001372043.1(PCSK5):c.3605-7C>TPCSK5-related disorder [RCV003932838]|not provided [RCV000902055]benign|likely benign97630863876308638Humanname , trait , alternate_id
8651330CV127905single nucleotide variantNM_001190482.1(PCSK5):c.3142+17306T>CLung cancer [RCV000108392]uncertain significance97625799076257990Humanname
8651331CV127906single nucleotide variantNM_001190482.1(PCSK5):c.3143-23226G>TLung cancer [RCV000108393]uncertain significance97626900776269007Humanname
150332431CV1169347single nucleotide variantNM_001372043.1(PCSK5):c.90T>C (p.Cys30=)not provided [RCV001536879]benign97589127175891271Humanname
15195919CV723624single nucleotide variantNM_001372043.1(PCSK5):c.84C>A (p.Pro28=)not provided [RCV000889636]benign97589126575891265Humanname
156112686CV2261160single nucleotide variantNM_001372043.1(PCSK5):c.16C>T (p.Arg6Cys)not specified [RCV004128053]uncertain significance97589119775891197Humanname
405294831CV3209358single nucleotide variantNM_001372043.1(PCSK5):c.186A>T (p.Ile62=)PCSK5-related disorder [RCV003934784]uncertain significance97589136775891367Humanname , trait , alternate_id
15198323CV701048single nucleotide variantNM_001372043.1(PCSK5):c.135G>A (p.Gly45=)not provided [RCV000956720]benign97589131675891316Humanname
10449939CV215405single nucleotide variantNM_001372043.1(PCSK5):c.555C>T (p.Tyr185=)not provided [RCV004692811]|not specified [RCV000203147]uncertain significance97602388176023881Humanname
405262492CV3220083single nucleotide variantNM_001372043.1(PCSK5):c.591C>T (p.Asp197=)PCSK5-related disorder [RCV003967216]likely benign97602699676026996Humanname , trait , alternate_id
407463143CV3460049single nucleotide variantNM_001372043.1(PCSK5):c.92G>A (p.Arg31Gln)not specified [RCV004659605]uncertain significance97589127375891273Humanname
407463147CV3460050single nucleotide variantNM_001372043.1(PCSK5):c.34C>T (p.Arg12Cys)not specified [RCV004659606]uncertain significance97589121575891215Humanname
597697814CV3571989single nucleotide variantNM_001372043.1(PCSK5):c.67G>C (p.Gly23Arg)not specified [RCV004839370]uncertain significance97589124875891248Humanname
15160411CV712021single nucleotide variantNM_001372043.1(PCSK5):c.348T>C (p.Tyr116=)not provided [RCV000969896]likely benign97598618275986182Humanname
15153961CV712022single nucleotide variantNM_001372043.1(PCSK5):c.447C>T (p.Asp149=)not provided [RCV000968644]benign97602377376023773Humanname
15168151CV712023single nucleotide variantNM_001372043.1(PCSK5):c.717C>T (p.Ile239=)not provided [RCV000971555]benign97606803976068039Humanname
156079820CV2292634single nucleotide variantNM_001372043.1(PCSK5):c.208G>A (p.Asp70Asn)not specified [RCV004154323]uncertain significance97593239475932394Humanname
155990825CV2384067single nucleotide variantNM_001372043.1(PCSK5):c.197G>A (p.Gly66Glu)not specified [RCV004225430]uncertain significance97593238375932383Humanname
401772042CV2687395single nucleotide variantNM_001372043.1(PCSK5):c.182A>G (p.Asn61Ser)not specified [RCV004300645]uncertain significance97589136375891363Humanname
405277550CV3195927single nucleotide variantNM_001372043.1(PCSK5):c.2562A>C (p.Thr854=)PCSK5-related disorder [RCV003904451]likely benign97618968276189682Humanname , trait , alternate_id
405273579CV3198093single nucleotide variantNM_001372043.1(PCSK5):c.1404T>C (p.Cys468=)PCSK5-related disorder [RCV003901863]uncertain significance97615713676157136Humanname , trait , alternate_id
405277923CV3199382single nucleotide variantNM_001372043.1(PCSK5):c.1137G>A (p.Thr379=)PCSK5-related disorder [RCV003904781]likely benign97610728076107280Humanname , trait , alternate_id
405275120CV3204594single nucleotide variantNM_001372043.1(PCSK5):c.1653C>T (p.Asn551=)PCSK5-related disorder [RCV003952008]likely benign97616973776169737Humanname , trait , alternate_id
405762588CV3364876single nucleotide variantNM_001372043.1(PCSK5):c.238A>G (p.Ile80Val)not specified [RCV004500891]uncertain significance97593242475932424Humanname
407523802CV3460052single nucleotide variantNM_001372043.1(PCSK5):c.2511A>G (p.Lys837=)not specified [RCV004653428]likely benign97618963176189631Humanname
407523805CV3460053single nucleotide variantNM_001372043.1(PCSK5):c.158T>A (p.Ile53Asn)not specified [RCV004653429]uncertain significance97589133975891339Humanname
598165300CV4006061single nucleotide variantNM_001372043.1(PCSK5):c.200C>T (p.Ala67Val)not specified [RCV005391305]uncertain significance97593238675932386Humanname
598165313CV4006063single nucleotide variantNM_001372043.1(PCSK5):c.223T>C (p.Tyr75His)not specified [RCV005391307]uncertain significance97593240975932409Humanname
598165317CV4006064single nucleotide variantNM_001372043.1(PCSK5):c.106A>G (p.Thr36Ala)not specified [RCV005391308]uncertain significance97589128775891287Humanname
15169500CV723625single nucleotide variantNM_001372043.1(PCSK5):c.1155G>A (p.Thr385=)not provided [RCV000883279]benign97610729876107298Humanname
15115368CV737194single nucleotide variantNM_001372043.1(PCSK5):c.1830G>A (p.Pro610=)not provided [RCV000895012]benign97617505976175059Humanname
8633396CV88611single nucleotide variantNM_001190482.1(PCSK5):c.250G>A (p.Val84Ile)Malignant melanoma [RCV000068704]not provided97593243675932436Humanname
156387371CV2372725single nucleotide variantNM_001372043.1(PCSK5):c.425A>G (p.Asn142Ser)not specified [RCV004221916]uncertain significance97602375176023751Humanname
401720987CV2702219single nucleotide variantNM_001372043.1(PCSK5):c.329A>G (p.Lys110Arg)not specified [RCV004314563]uncertain significance97598616375986163Humanname
401870596CV2755921single nucleotide variantNM_001372043.1(PCSK5):c.439C>G (p.Gln147Glu)not specified [RCV004336010]uncertain significance97602376576023765Humanname
401898338CV2787678single nucleotide variantNM_001372043.1(PCSK5):c.488A>G (p.Lys163Arg)not specified [RCV004356600]uncertain significance97602381476023814Humanname
401911013CV2826151single nucleotide variantNM_001372043.1(PCSK5):c.5097C>T (p.His1699=)not provided [RCV003425686]likely benign97635406276354062Humanname
405763098CV3364879single nucleotide variantNM_001372043.1(PCSK5):c.364C>G (p.Gln122Glu)not specified [RCV004500894]uncertain significance97598619875986198Humanname
405762613CV3364880single nucleotide variantNM_001372043.1(PCSK5):c.893T>C (p.Met298Thr)not specified [RCV004500895]uncertain significance97607189776071897Humanname
407523799CV3460051single nucleotide variantNM_001372043.1(PCSK5):c.343G>A (p.Asp115Asn)not specified [RCV004653427]uncertain significance97598617775986177Humanname
407523812CV3460055single nucleotide variantNM_001372043.1(PCSK5):c.446A>G (p.Asp149Gly)not specified [RCV004653431]uncertain significance97602377276023772Humanname
597697766CV3571983single nucleotide variantNM_001372043.1(PCSK5):c.886G>A (p.Val296Ile)not specified [RCV004839365]uncertain significance97607189076071890Humanname
597697775CV3571984single nucleotide variantNM_001372043.1(PCSK5):c.667G>A (p.Ala223Thr)not specified [RCV004839366]uncertain significance97606798976067989Humanname
598165306CV4006062single nucleotide variantNM_001372043.1(PCSK5):c.562C>G (p.Leu188Val)not specified [RCV005391306]uncertain significance97602696776026967Humanname
15154974CV737195single nucleotide variantNM_001372043.1(PCSK5):c.3483G>A (p.Val1161=)PCSK5-related disorder [RCV003950590]|not provided [RCV000902054]benign|likely benign97629682576296825Humanname , trait , alternate_id
15184023CV737196single nucleotide variantNM_001372043.1(PCSK5):c.4443G>A (p.Lys1481=)not provided [RCV000908185]benign97632811276328112Humanname
15138335CV751768single nucleotide variantNM_001372043.1(PCSK5):c.3423T>C (p.Pro1141=)not provided [RCV000921314]likely benign97629676576296765Humanname
8633397CV88612single nucleotide variantNM_001190482.1(PCSK5):c.385C>T (p.Pro129Ser)Malignant melanoma [RCV000068705]not provided97598621975986219Humanname
8651329CV127904single nucleotide variantNM_001190482.1(PCSK5):c.2383G>T (p.Ala795Ser)Lung cancer [RCV000108391]uncertain significance97618909676189096Humanname
156357982CV2250800single nucleotide variantNM_001372043.1(PCSK5):c.2427G>A (p.Met809Ile)not specified [RCV004129661]uncertain significance97618914076189140Humanname
156198954CV2255951single nucleotide variantNM_001372043.1(PCSK5):c.1498C>T (p.Arg500Cys)not specified [RCV004122402]uncertain significance97615905076159050Humanname
155972514CV2271545single nucleotide variantNM_001372043.1(PCSK5):c.1262C>T (p.Ala421Val)not specified [RCV004128634]uncertain significance97613416276134162Humanname
156004830CV2290240single nucleotide variantNM_001372043.1(PCSK5):c.2553G>T (p.Lys851Asn)not specified [RCV004152890]uncertain significance97618967376189673Humanname
156160107CV2311643single nucleotide variantNM_001372043.1(PCSK5):c.2591T>C (p.Leu864Ser)not specified [RCV004168738]uncertain significance97618971176189711Humanname
156047268CV2315674single nucleotide variantNM_001372043.1(PCSK5):c.1460C>G (p.Ser487Cys)not specified [RCV004169700]uncertain significance97615901276159012Humanname
156079445CV2337292single nucleotide variantNM_001372043.1(PCSK5):c.1522G>A (p.Val508Ile)not specified [RCV004187745]uncertain significance97615907476159074Humanname
155979817CV2339211single nucleotide variantNM_001372043.1(PCSK5):c.2531C>T (p.Thr844Met)not specified [RCV004191453]uncertain significance97618965176189651Humanname
156347605CV2375507single nucleotide variantNM_001372043.1(PCSK5):c.2351C>A (p.Pro784His)not specified [RCV004226018]uncertain significance97618864676188646Humanname
401738242CV2676177single nucleotide variantNM_001372043.1(PCSK5):c.1391G>A (p.Arg464Gln)not specified [RCV004284395]likely benign97615712376157123Humanname
401747563CV2696733single nucleotide variantNM_001372043.1(PCSK5):c.2443G>A (p.Val815Met)not specified [RCV004290707]uncertain significance97618915676189156Humanname
401861692CV2756419single nucleotide variantNM_001372043.1(PCSK5):c.2425A>G (p.Met809Val)not specified [RCV004342958]uncertain significance97618913876189138Humanname
401861847CV2766437single nucleotide variantNM_001372043.1(PCSK5):c.1909G>A (p.Asp637Asn)not specified [RCV004345279]uncertain significance97617960476179604Humanname
401878561CV2770660single nucleotide variantNM_001372043.1(PCSK5):c.2213G>A (p.Arg738Gln)not specified [RCV004349711]uncertain significance97618468876184688Humanname
401879138CV2787830single nucleotide variantNM_001372043.1(PCSK5):c.1850A>G (p.Tyr617Cys)not specified [RCV004358515]uncertain significance97617507976175079Humanname
405762543CV3364869single nucleotide variantNM_001372043.1(PCSK5):c.1084G>A (p.Gly362Arg)not specified [RCV004500884]uncertain significance97609607976096079Humanname
405762558CV3364871single nucleotide variantNM_001372043.1(PCSK5):c.1345G>A (p.Ala449Thr)not specified [RCV004500886]uncertain significance97615707776157077Humanname
405762564CV3364872single nucleotide variantNM_001372043.1(PCSK5):c.1796C>T (p.Ser599Phe)not specified [RCV004500887]uncertain significance97617502576175025Humanname
405762570CV3364873single nucleotide variantNM_001372043.1(PCSK5):c.1898C>T (p.Ala633Val)not specified [RCV004500888]uncertain significance97617512776175127Humanname
405762576CV3364874single nucleotide variantNM_001372043.1(PCSK5):c.2359C>T (p.Arg787Cys)not specified [RCV004500889]uncertain significance97618865476188654Humanname
405762583CV3364875single nucleotide variantNM_001372043.1(PCSK5):c.2360G>A (p.Arg787His)not specified [RCV004500890]uncertain significance97618865576188655Humanname
405762596CV3364877single nucleotide variantNM_001372043.1(PCSK5):c.2605A>C (p.Met869Leu)not specified [RCV004500892]uncertain significance97618972576189725Humanname
597697783CV3571985single nucleotide variantNM_001372043.1(PCSK5):c.2350C>G (p.Pro784Ala)not specified [RCV004839367]uncertain significance97618864576188645Humanname
597697793CV3571986single nucleotide variantNM_001372043.1(PCSK5):c.2368G>A (p.Ala790Thr)not specified [RCV004839368]uncertain significance97618866376188663Humanname
597756649CV3571987single nucleotide variantNM_001372043.1(PCSK5):c.1588T>G (p.Ser530Ala)not specified [RCV004848166]uncertain significance97615914076159140Humanname
597697805CV3571988single nucleotide variantNM_001372043.1(PCSK5):c.1921A>G (p.Ser641Gly)not specified [RCV004839369]uncertain significance97617961676179616Humanname
597697825CV3571990single nucleotide variantNM_001372043.1(PCSK5):c.1456C>G (p.Arg486Gly)not specified [RCV004839371]uncertain significance97615900876159008Humanname
597697835CV3571992single nucleotide variantNM_001372043.1(PCSK5):c.2201A>G (p.Lys734Arg)not specified [RCV004839372]uncertain significance97618467676184676Humanname
598195994CV4006058single nucleotide variantNM_001372043.1(PCSK5):c.1798G>A (p.Val600Met)not specified [RCV005397627]uncertain significance97617502776175027Humanname
598165288CV4006059single nucleotide variantNM_001372043.1(PCSK5):c.1828C>T (p.Pro610Ser)not specified [RCV005391303]uncertain significance97617505776175057Humanname
598165294CV4006060single nucleotide variantNM_001372043.1(PCSK5):c.2437A>G (p.Arg813Gly)not specified [RCV005391304]uncertain significance97618915076189150Humanname
598165323CV4006065single nucleotide variantNM_001372043.1(PCSK5):c.1496A>G (p.Asn499Ser)not specified [RCV005391309]uncertain significance97615904876159048Humanname
15168157CV712024single nucleotide variantNM_001372043.1(PCSK5):c.1457G>A (p.Arg486His)not provided [RCV000971556]benign97615900976159009Humanname
8633398CV88613single nucleotide variantNM_001190482.1(PCSK5):c.2240G>A (p.Cys747Tyr)Malignant melanoma [RCV000068706]not provided97618471576184715Humanname
152156834CV1668770single nucleotide variantNM_001372043.1(PCSK5):c.5315T>C (p.Leu1772Pro)not specified [RCV002222996]uncertain significance97635857376358573Humanname
10449809CV215406single nucleotide variantNM_001372043.1(PCSK5):c.4361C>T (p.Thr1454Ile)not provided [RCV000973029]|not specified [RCV000202941]likely benign97632803076328030Humanname
156373571CV2201262single nucleotide variantNM_001372043.1(PCSK5):c.3722C>T (p.Ser1241Phe)not specified [RCV004077398]uncertain significance97631068976310689Humanname
156336420CV2333668single nucleotide variantNM_001372043.1(PCSK5):c.4338A>C (p.Arg1446Ser)not specified [RCV004192507]uncertain significance97632328776323287Humanname
156165173CV2376327single nucleotide variantNM_001372043.1(PCSK5):c.4157G>A (p.Arg1386His)not specified [RCV004222587]uncertain significance97632310676323106Humanname
156103144CV2400191single nucleotide variantNM_001372043.1(PCSK5):c.4700C>T (p.Pro1567Leu)not specified [RCV004242986]uncertain significance97633256276332562Humanname
401913351CV2797256single nucleotide variantNM_001372043.1(PCSK5):c.4651T>C (p.Cys1551Arg)PCSK5-related disorder [RCV003427832]uncertain significance97633251376332513Humanname , trait , alternate_id
401933318CV2797618single nucleotide variantNM_001372043.1(PCSK5):c.3701T>C (p.Leu1234Pro)PCSK5-related disorder [RCV003392790]|not specified [RCV004362862]uncertain significance97631066876310668Humanname , trait , alternate_id
401933710CV2799546single nucleotide variantNM_001372043.1(PCSK5):c.4740C>A (p.Cys1580Ter)PCSK5-related disorder [RCV003410584]uncertain significance97633260276332602Humanname , trait , alternate_id
405292305CV3200064single nucleotide variantNM_001372043.1(PCSK5):c.5270G>A (p.Arg1757Gln)PCSK5-related disorder [RCV003964480]likely benign97635852876358528Humanname , trait , alternate_id
405271804CV3202994single nucleotide variantNM_001372043.1(PCSK5):c.4100A>T (p.Lys1367Ile)PCSK5-related disorder [RCV003914049]uncertain significance97632163776321637Humanname , trait , alternate_id
405291008CV3203611single nucleotide variantNM_001372043.1(PCSK5):c.4683G>C (p.Gln1561His)PCSK5-related disorder [RCV003927315]likely benign97633254576332545Humanname , trait , alternate_id
405295169CV3211115single nucleotide variantNM_001372043.1(PCSK5):c.4723G>A (p.Glu1575Lys)PCSK5-related disorder [RCV003937110]likely benign97633258576332585Humanname , trait , alternate_id
405274290CV3211633single nucleotide variantNM_001372043.1(PCSK5):c.4103A>C (p.Glu1368Ala)PCSK5-related disorder [RCV003951456]likely benign97632305276323052Humanname , trait , alternate_id
405282196CV3216236single nucleotide variantNM_001372043.1(PCSK5):c.3797C>T (p.Ser1266Phe)PCSK5-related disorder [RCV003956754]likely benign97631076476310764Humanname , trait , alternate_id
405762598CV3364878single nucleotide variantNM_001372043.1(PCSK5):c.3010T>C (p.Cys1004Arg)not specified [RCV004500893]uncertain significance97623910276239102Humanname
15158971CV701049single nucleotide variantNM_001372043.1(PCSK5):c.4040A>G (p.Lys1347Arg)not provided [RCV000947180]benign97632157776321577Humanname
15198326CV701050single nucleotide variantNM_001372043.1(PCSK5):c.4756G>A (p.Ala1586Thr)not provided [RCV000956721]benign97633823776338237Humanname
15157071CV712025single nucleotide variantNM_001372043.1(PCSK5):c.3025T>A (p.Phe1009Ile)not provided [RCV000969239]benign97623911776239117Humanname
15115898CV712026single nucleotide variantNM_001372043.1(PCSK5):c.3682C>T (p.Pro1228Ser)not provided [RCV000961935]benign97630872276308722Humanname
15151489CV712027single nucleotide variantNM_001372043.1(PCSK5):c.4454C>T (p.Ser1485Phe)not provided [RCV000968149]benign97632812376328123Humanname