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


330 records found for search term Dzip1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
596938249CV3550053duplicationNM_198968.4(DZIP1):c.37-5dupIntellectual developmental disorder 61 [RCV004813358]uncertain significance139564185995641860Human1name
15118099CV713984single nucleotide variantNM_198968.4(DZIP1):c.666T>G (p.Thr222=)not provided [RCV000962315]benign139563325395633253Humanname
40886508CV973088single nucleotide variantNM_198968.4(DZIP1):c.72C>A (p.Ser24Arg)DZIP1-related disorder [RCV003898253]|Mitral valve prolapse, myxomatous 3 [RCV001265624]|Spermatogenic failure 47 [RCV005360005]pathogenic|uncertain significance139564182095641820Human2name , trait , alternate_id
329358128CV2427951single nucleotide variantNM_198968.4(DZIP1):c.229G>T (p.Val77Leu)not specified [RCV004254337]uncertain significance139564166395641663Humanname
405751658CV3238182single nucleotide variantNM_198968.4(DZIP1):c.172T>C (p.Phe58Leu)not specified [RCV004382058]uncertain significance139564172095641720Humanname
597802812CV3670523single nucleotide variantNM_198968.4(DZIP1):c.285C>A (p.Asn95Lys)not specified [RCV004906873]uncertain significance139564160795641607Humanname
597802824CV3670530single nucleotide variantNM_198968.4(DZIP1):c.147C>G (p.Ser49Arg)not specified [RCV004906879]uncertain significance139564174595641745Humanname
598268264CV3953822single nucleotide variantNM_198968.4(DZIP1):c.262A>G (p.Thr88Ala)not specified [RCV005327063]uncertain significance139564163095641630Humanname
8635091CV90313single nucleotide variantNM_014934.4(DZIP1):c.2004G>A (p.Glu668=)Malignant melanoma [RCV000070411]not provided139558769695587696Humanname
40886510CV973090single nucleotide variantNM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)Spermatogenic failure 47 [RCV001265626]pathogenic139564170495641704Human1name
155986396CV2345505single nucleotide variantNM_198968.4(DZIP1):c.500C>T (p.Ala167Val)not specified [RCV004198270]likely benign139564139295641392Humanname
156176061CV2355742single nucleotide variantNM_198968.4(DZIP1):c.371C>T (p.Ala124Val)not specified [RCV004199101]uncertain significance139564152195641521Humanname
329368378CV2427998single nucleotide variantNM_198968.4(DZIP1):c.629A>G (p.Gln210Arg)not specified [RCV004254378]uncertain significance139563329095633290Humanname
329390542CV2440309single nucleotide variantNM_198968.4(DZIP1):c.419C>T (p.Ser140Leu)not specified [RCV004262789]uncertain significance139564147395641473Humanname
329387537CV2470805single nucleotide variantNM_198968.4(DZIP1):c.916G>A (p.Glu306Lys)not specified [RCV004276020]uncertain significance139562482495624824Humanname
401855230CV2757192single nucleotide variantNM_198968.4(DZIP1):c.574G>C (p.Glu192Gln)not specified [RCV004338796]uncertain significance139564131895641318Humanname
401884398CV2762564single nucleotide variantNM_198968.4(DZIP1):c.950C>T (p.Ser317Leu)not specified [RCV004338092]uncertain significance139562479095624790Humanname
405751751CV3238194single nucleotide variantNM_198968.4(DZIP1):c.794C>G (p.Ala265Gly)not specified [RCV004382070]uncertain significance139563000595630005Humanname
405751757CV3238195single nucleotide variantNM_198968.4(DZIP1):c.821T>G (p.Met274Arg)not specified [RCV004382071]uncertain significance139562491995624919Humanname
407477733CV3431307single nucleotide variantNM_198968.4(DZIP1):c.460T>G (p.Cys154Gly)not specified [RCV004617378]uncertain significance139564143295641432Humanname
407477740CV3431308single nucleotide variantNM_198968.4(DZIP1):c.320C>T (p.Pro107Leu)not specified [RCV004617379]uncertain significance139564157295641572Humanname
597802818CV3670527single nucleotide variantNM_198968.4(DZIP1):c.659G>A (p.Arg220His)not specified [RCV004906876]uncertain significance139563326095633260Humanname
597735590CV3670532single nucleotide variantNM_198968.4(DZIP1):c.898G>A (p.Glu300Lys)not specified [RCV004920500]uncertain significance139562484295624842Humanname
597802828CV3670534single nucleotide variantNM_198968.4(DZIP1):c.649A>G (p.Ile217Val)not specified [RCV004906882]uncertain significance139563327095633270Humanname
597802830CV3670535single nucleotide variantNM_198968.4(DZIP1):c.664A>G (p.Thr222Ala)not specified [RCV004906883]uncertain significance139563325595633255Humanname
597802832CV3670536single nucleotide variantNM_198968.4(DZIP1):c.538C>T (p.Arg180Trp)not specified [RCV004906884]uncertain significance139564135495641354Humanname
598217014CV3895288single nucleotide variantNM_198968.4(DZIP1):c.785A>G (p.His262Arg)Spermatogenic failure 47 [RCV005360180]uncertain significance139563001495630014Human1name
598268252CV3953820single nucleotide variantNM_198968.4(DZIP1):c.459C>G (p.His153Gln)not specified [RCV005327061]uncertain significance139564143395641433Humanname
598268259CV3953821single nucleotide variantNM_198968.4(DZIP1):c.903G>A (p.Met301Ile)not specified [RCV005327062]uncertain significance139562483795624837Humanname
598268274CV3953824single nucleotide variantNM_198968.4(DZIP1):c.306A>C (p.Glu102Asp)not specified [RCV005327065]uncertain significance139564158695641586Humanname
598268279CV3953825single nucleotide variantNM_198968.4(DZIP1):c.463G>A (p.Asp155Asn)not specified [RCV005327066]uncertain significance139564142995641429Humanname
40886509CV973089single nucleotide variantNM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)Spermatogenic failure 47 [RCV001265625]pathogenic139563010995630109Human1name
155978901CV2222773single nucleotide variantNM_198968.4(DZIP1):c.1490C>T (p.Ser497Leu)not specified [RCV004101614]uncertain significance139559941295599412Humanname
156018902CV2233305single nucleotide variantNM_198968.4(DZIP1):c.2146A>C (p.Thr716Pro)not specified [RCV004105685]uncertain significance139558761195587611Humanname
156070968CV2251381single nucleotide variantNM_198968.4(DZIP1):c.2321T>A (p.Ile774Asn)not specified [RCV004117371]uncertain significance139558603495586034Humanname
156274017CV2254720single nucleotide variantNM_198968.4(DZIP1):c.1139C>G (p.Ala380Gly)not specified [RCV004115196]uncertain significance139561991995619919Humanname
156360016CV2258056single nucleotide variantNM_198968.4(DZIP1):c.2290G>T (p.Val764Phe)not specified [RCV004129851]uncertain significance139558606595586065Humanname
156248885CV2264028single nucleotide variantNM_198968.4(DZIP1):c.1934G>C (p.Arg645Thr)not specified [RCV004138048]uncertain significance139558984295589842Humanname
156335201CV2333494single nucleotide variantNM_198968.4(DZIP1):c.2308C>T (p.Pro770Ser)not specified [RCV004190189]uncertain significance139558604795586047Humanname
156345544CV2382252single nucleotide variantNM_198968.4(DZIP1):c.1727G>T (p.Ser576Ile)not specified [RCV004228195]uncertain significance139559039595590395Humanname
156217324CV2386144single nucleotide variantNM_198968.4(DZIP1):c.1094A>G (p.Gln365Arg)not specified [RCV004229192]uncertain significance139562235995622359Humanname
156089922CV2392132single nucleotide variantNM_198968.4(DZIP1):c.1056C>A (p.Asp352Glu)not specified [RCV004238025]likely benign139562239795622397Humanname
329388736CV2447818single nucleotide variantNM_198968.4(DZIP1):c.1172G>A (p.Arg391Gln)not specified [RCV004258593]uncertain significance139561988695619886Humanname
329373915CV2452707single nucleotide variantNM_198968.4(DZIP1):c.1992G>T (p.Met664Ile)not specified [RCV004275258]uncertain significance139558918995589189Humanname
401726374CV2674117single nucleotide variantNM_198968.4(DZIP1):c.2270G>A (p.Arg757His)not specified [RCV004295523]likely benign139558608595586085Humanname
401738282CV2676190single nucleotide variantNM_198968.4(DZIP1):c.1717G>A (p.Val573Ile)not specified [RCV004284407]uncertain significance139559040595590405Humanname
401750600CV2715699single nucleotide variantNM_198968.4(DZIP1):c.2283C>G (p.Asn761Lys)not specified [RCV004328852]uncertain significance139558607295586072Humanname
401723587CV2724955single nucleotide variantNM_198968.4(DZIP1):c.2513C>T (p.Pro838Leu)not specified [RCV004319719]uncertain significance139558474795584747Humanname
401855856CV2757556single nucleotide variantNM_198968.4(DZIP1):c.2581T>G (p.Trp861Gly)not specified [RCV004340930]uncertain significance139558225795582257Humanname
401896105CV2777492single nucleotide variantNM_198968.4(DZIP1):c.1745A>G (p.His582Arg)not specified [RCV004356258]uncertain significance139559037795590377Humanname
401882237CV2793416single nucleotide variantNM_198968.4(DZIP1):c.1720C>A (p.Leu574Ile)not specified [RCV004362511]uncertain significance139559040295590402Humanname
405259903CV3186469single nucleotide variantNM_198968.4(DZIP1):c.1057C>T (p.Arg353Cys)not provided [RCV003884228]uncertain significance139562239695622396Humanname
405751640CV3238180single nucleotide variantNM_198968.4(DZIP1):c.1394C>T (p.Ser465Phe)not specified [RCV004382056]uncertain significance139560948395609483Humanname
405751649CV3238181single nucleotide variantNM_198968.4(DZIP1):c.1688G>A (p.Arg563His)not specified [RCV004382057]likely benign139559043495590434Humanname
405751677CV3238184single nucleotide variantNM_198968.4(DZIP1):c.1748A>C (p.Lys583Thr)not specified [RCV004382060]uncertain significance139559037495590374Humanname
405751683CV3238185single nucleotide variantNM_198968.4(DZIP1):c.1865T>A (p.Met622Lys)not specified [RCV004382061]uncertain significance139558991195589911Humanname
405751689CV3238186single nucleotide variantNM_198968.4(DZIP1):c.1869T>G (p.Asp623Glu)not specified [RCV004382062]uncertain significance139558990795589907Humanname
405751699CV3238187single nucleotide variantNM_198968.4(DZIP1):c.1942G>A (p.Ala648Thr)not specified [RCV004382063]uncertain significance139558983495589834Humanname
405751704CV3238188single nucleotide variantNM_198968.4(DZIP1):c.2005C>T (p.Pro669Ser)not specified [RCV004382064]uncertain significance139558917695589176Humanname
405751714CV3238189single nucleotide variantNM_198968.4(DZIP1):c.2020A>G (p.Thr674Ala)not specified [RCV004382065]uncertain significance139558916195589161Humanname
405751721CV3238190single nucleotide variantNM_198968.4(DZIP1):c.2276A>G (p.Asn759Ser)not specified [RCV004382066]uncertain significance139558607995586079Humanname
405751731CV3238191single nucleotide variantNM_198968.4(DZIP1):c.2440C>A (p.Pro814Thr)not specified [RCV004382067]uncertain significance139558482095584820Humanname
405751740CV3238192single nucleotide variantNM_198968.4(DZIP1):c.2587G>A (p.Asp863Asn)not specified [RCV004382068]uncertain significance139558225195582251Humanname
405751743CV3238193single nucleotide variantNM_198968.4(DZIP1):c.2593T>G (p.Ser865Ala)not specified [RCV004382069]uncertain significance139558224595582245Humanname
407425031CV3409314single nucleotide variantNM_198968.4(DZIP1):c.1812T>G (p.Cys604Trp)not provided [RCV004585245]benign139559031095590310Humanname
407477716CV3431305single nucleotide variantNM_198968.4(DZIP1):c.2057A>C (p.Gln686Pro)not specified [RCV004617376]uncertain significance139558770095587700Humanname
407477723CV3431306single nucleotide variantNM_198968.4(DZIP1):c.1064C>T (p.Pro355Leu)not specified [RCV004617377]uncertain significance139562238995622389Humanname
408383930CV3506126single nucleotide variantNM_198968.4(DZIP1):c.1490C>G (p.Ser497Trp)DZIP1-related disorder [RCV004731411]uncertain significance139559941295599412Humanname , trait , alternate_id
597802814CV3670524single nucleotide variantNM_198968.4(DZIP1):c.1879A>T (p.Thr627Ser)not specified [RCV004906874]uncertain significance139558989795589897Humanname
597802816CV3670525single nucleotide variantNM_198968.4(DZIP1):c.2371G>C (p.Asp791His)not specified [RCV004906875]uncertain significance139558488995584889Humanname
597735585CV3670526single nucleotide variantNM_198968.4(DZIP1):c.2236C>T (p.Pro746Ser)not specified [RCV004920499]uncertain significance139558611995586119Humanname
597802820CV3670528single nucleotide variantNM_198968.4(DZIP1):c.1207A>G (p.Met403Val)not specified [RCV004906877]uncertain significance139561214495612144Humanname
597802822CV3670529single nucleotide variantNM_198968.4(DZIP1):c.2035C>T (p.Pro679Ser)not specified [RCV004906878]uncertain significance139558772295587722Humanname
597802826CV3670531single nucleotide variantNM_198968.4(DZIP1):c.2216C>T (p.Ala739Val)not specified [RCV004906880]uncertain significance139558754195587541Humanname
598268242CV3953818single nucleotide variantNM_198968.4(DZIP1):c.1939A>G (p.Lys647Glu)not specified [RCV005327059]uncertain significance139558983795589837Humanname
598268247CV3953819single nucleotide variantNM_198968.4(DZIP1):c.2293G>A (p.Gly765Ser)not specified [RCV005327060]uncertain significance139558606295586062Humanname
598268269CV3953823single nucleotide variantNM_198968.4(DZIP1):c.2087C>T (p.Ala696Val)not specified [RCV005327064]uncertain significance139558767095587670Humanname
598268285CV3953826single nucleotide variantNM_198968.4(DZIP1):c.1519C>T (p.Leu507Phe)not specified [RCV005327067]uncertain significance139559938395599383Humanname
598268290CV3953827single nucleotide variantNM_198968.4(DZIP1):c.1573A>G (p.Met525Val)not specified [RCV005327068]uncertain significance139559405195594051Humanname
15199918CV702743single nucleotide variantNM_198968.4(DZIP1):c.1990A>T (p.Met664Leu)not provided [RCV000957180]benign139558919195589191Humanname
8635090CV90312single nucleotide variantNM_014934.4(DZIP1):c.2005G>A (p.Asp669Asn)Malignant melanoma [RCV000070410]not provided139558769595587695Humanname
8635092CV90314single nucleotide variantNM_014934.4(DZIP1):c.1681G>A (p.Glu561Lys)Malignant melanoma [RCV000070412]not provided139559038495590384Humanname
151736619CV1463619single nucleotide variantNM_173543.3(DZIP1L):c.586+3G>Anot provided [RCV001911477]uncertain significance3138097760138097760Humanname
156417050CV1970178single nucleotide variantNM_173543.3(DZIP1L):c.709-8C>Tnot provided [RCV002590006]likely benign3138092552138092552Humanname
404986569CV3135461single nucleotide variantNM_173543.3(DZIP1L):c.870+1G>Anot provided [RCV003826756]likely pathogenic3138092382138092382Humanname
596930062CV3538675single nucleotide variantNM_173543.3(DZIP1L):c.871-2A>Gnot provided [RCV004792144]uncertain significance3138088509138088509Humanname
150449099CV1273589single nucleotide variantNM_173543.3(DZIP1L):c.709-14G>Anot provided [RCV001691689]benign3138092558138092558Humanname
151717996CV1483615single nucleotide variantNM_173543.3(DZIP1L):c.2003-3C>Gnot provided [RCV001909256]uncertain significance3138064770138064770Humanname
152132967CV1546994single nucleotide variantNM_173543.3(DZIP1L):c.502-13C>Gnot provided [RCV002155785]likely benign3138097860138097860Humanname
152095756CV1597386single nucleotide variantNM_173543.3(DZIP1L):c.502-12C>Anot provided [RCV002114675]likely benign3138097859138097859Humanname
156188972CV1882728single nucleotide variantNM_173543.3(DZIP1L):c.1833-7G>Cnot provided [RCV003083810]likely benign3138067707138067707Humanname
156370783CV1905241single nucleotide variantNM_173543.3(DZIP1L):c.1833-8C>TDZIP1L-related disorder [RCV003906518]|not provided [RCV002582397]likely benign3138067708138067708Human1name , trait , alternate_id
156364886CV1912898single nucleotide variantNM_173543.3(DZIP1L):c.1833-7G>ADZIP1L-related disorder [RCV003946292]|not provided [RCV002602752]likely benign3138067707138067707Human1name , trait , alternate_id
156406199CV1963516single nucleotide variantNM_173543.3(DZIP1L):c.587-14C>Tnot provided [RCV002585824]likely benign3138094997138094997Humanname
156328496CV1969773single nucleotide variantNM_173543.3(DZIP1L):c.586+20C>Tnot provided [RCV002600659]likely benign3138097743138097743Humanname
156265097CV1993875single nucleotide variantNM_173543.3(DZIP1L):c.871-10G>Tnot provided [RCV002646347]likely benign3138088517138088517Humanname
156402627CV2010100single nucleotide variantNM_173543.3(DZIP1L):c.1203+6T>Cnot provided [RCV002726142]uncertain significance3138084107138084107Humanname
156207087CV2040267single nucleotide variantNM_173543.3(DZIP1L):c.709-20G>Anot provided [RCV002790097]likely benign3138092564138092564Humanname
156218266CV2047747single nucleotide variantNM_173543.3(DZIP1L):c.870+17G>Anot provided [RCV002790531]benign3138092366138092366Humanname
155940058CV2054884single nucleotide variantNM_173543.3(DZIP1L):c.2143-7C>Gnot provided [RCV002815632]likely benign3138062984138062984Humanname
155942501CV2068342single nucleotide variantNM_173543.3(DZIP1L):c.871-14C>Tnot provided [RCV002839507]likely benign3138088521138088521Humanname
156006696CV2127438single nucleotide variantNM_173543.3(DZIP1L):c.1422+5G>Anot provided [RCV002948054]likely benign3138077494138077494Humanname
155950450CV2133118single nucleotide variantNM_173543.3(DZIP1L):c.1616-3C>Tnot provided [RCV002994597]uncertain significance3138068370138068370Humanname
401856156CV2752349single nucleotide variantNM_173543.3(DZIP1L):c.1000-4T>CPolycystic kidney disease 5 [RCV003340685]uncertain significance3138087027138087027Human1name
405139267CV3130866single nucleotide variantNM_173543.3(DZIP1L):c.999+10T>Cnot provided [RCV003839100]likely benign3138088369138088369Humanname
405291521CV3205764single nucleotide variantNM_173543.3(DZIP1L):c.1063-5G>TDZIP1L-related disorder [RCV003963898]likely benign3138084258138084258Humanname , trait , alternate_id
597682801CV3724307single nucleotide variantNM_173543.3(DZIP1L):c.1289-6C>GPolycystic kidney disease 5 [RCV005031257]uncertain significance3138077638138077638Human1name
597897915CV3744567single nucleotide variantNM_173543.3(DZIP1L):c.1288+7C>Anot provided [RCV005071845]likely benign3138080560138080560Humanname
15157331CV730189single nucleotide variantNM_173543.3(DZIP1L):c.1832+8C>Anot provided [RCV000880800]benign3138068143138068143Humanname
150507107CV1211092single nucleotide variantNM_173543.3(DZIP1L):c.1616-73A>Gnot provided [RCV001596210]benign3138068440138068440Humanname
150506299CV1213744single nucleotide variantNM_173543.3(DZIP1L):c.870+124A>Tnot provided [RCV001596001]benign3138092259138092259Humanname
150443767CV1249323single nucleotide variantNM_173543.3(DZIP1L):c.2003-91A>Gnot provided [RCV001666755]benign3138064858138064858Humanname
150437763CV1249925single nucleotide variantNM_173543.3(DZIP1L):c.1289-94C>Tnot provided [RCV001665839]benign3138077726138077726Humanname
150507309CV1256901single nucleotide variantNM_173543.3(DZIP1L):c.1204-50T>Cnot provided [RCV001678404]benign3138081814138081814Humanname
150509104CV1284452single nucleotide variantNM_173543.3(DZIP1L):c.1235-36A>Gnot provided [RCV001720560]benign3138080656138080656Humanname
150509127CV1284458single nucleotide variantNM_173543.3(DZIP1L):c.502-128T>Gnot provided [RCV001720566]benign3138097975138097975Humanname
150509151CV1284464single nucleotide variantNM_173543.3(DZIP1L):c.502-189G>Anot provided [RCV001720572]benign3138098036138098036Humanname
152112844CV1542057single nucleotide variantNM_173543.3(DZIP1L):c.1422+18C>Tnot provided [RCV002116781]benign3138077481138077481Humanname
152092429CV1571171single nucleotide variantNM_173543.3(DZIP1L):c.1234+19C>Tnot provided [RCV002150763]likely benign3138081715138081715Humanname
152074485CV1635256single nucleotide variantNM_173543.3(DZIP1L):c.2143-10C>Tnot provided [RCV002092039]likely benign3138062987138062987Humanname
156239316CV1952929single nucleotide variantNM_173543.3(DZIP1L):c.2143-18C>Tnot provided [RCV002576164]likely benign3138062995138062995Humanname
156254154CV2041189single nucleotide variantNM_173543.3(DZIP1L):c.1616-19T>Cnot provided [RCV002806110]likely benign3138068386138068386Humanname
156346711CV2051935single nucleotide variantNM_173543.3(DZIP1L):c.1423-13C>Tnot provided [RCV002811503]likely benign3138071848138071848Humanname
156135337CV2113284single nucleotide variantNM_173543.3(DZIP1L):c.2003-10C>ADZIP1L-related disorder [RCV003961245]|not provided [RCV002928356]benign|likely benign3138064777138064777Human1name , trait , alternate_id
156089772CV2155573single nucleotide variantNM_173543.3(DZIP1L):c.1289-19T>Cnot provided [RCV003020640]likely benign3138077651138077651Humanname
402507457CV2982377deletionNM_173543.3(DZIP1L):c.2143-12delnot provided [RCV003689122]likely benign3138062989138062989Humanname
404977018CV3117496single nucleotide variantNM_173543.3(DZIP1L):c.1062+11T>Cnot provided [RCV003825268]likely benign3138086950138086950Humanname
405189275CV3121385single nucleotide variantNM_173543.3(DZIP1L):c.1423-11G>Cnot provided [RCV003820841]likely benign3138071846138071846Humanname
405086663CV3122107single nucleotide variantNM_173543.3(DZIP1L):c.1204-17A>Cnot provided [RCV003810862]likely benign3138081781138081781Humanname
404992711CV3132403single nucleotide variantNM_173543.3(DZIP1L):c.1063-16A>Gnot provided [RCV003827342]likely benign3138084269138084269Humanname
404987950CV3179777single nucleotide variantNM_173543.3(DZIP1L):c.1235-20A>Gnot provided [RCV003881254]likely benign3138080640138080640Humanname
597845071CV3736237single nucleotide variantNM_173543.3(DZIP1L):c.2002+15T>Gnot provided [RCV005065585]likely benign3138067516138067516Humanname
150495695CV1225139single nucleotide variantNM_173543.3(DZIP1L):c.2143-104T>Gnot provided [RCV001619617]benign3138063081138063081Humanname
150494273CV1226127single nucleotide variantNM_173543.3(DZIP1L):c.1423-166G>Anot provided [RCV001619346]benign3138072001138072001Humanname
150478217CV1250851single nucleotide variantNM_173543.3(DZIP1L):c.1289-233G>Anot provided [RCV001672340]benign3138077865138077865Humanname
150457969CV1260214single nucleotide variantNM_173543.3(DZIP1L):c.1288+118T>Anot provided [RCV001681694]benign3138080449138080449Humanname
150459032CV1263952single nucleotide variantNM_173543.3(DZIP1L):c.1615+199G>Anot provided [RCV001681866]benign3138071444138071444Humanname
150466669CV1268812single nucleotide variantNM_173543.3(DZIP1L):c.1833-154C>Tnot provided [RCV001694509]benign3138067854138067854Humanname
150509115CV1284455single nucleotide variantNM_173543.3(DZIP1L):c.1616-146A>Gnot provided [RCV001720563]benign3138068513138068513Humanname
401923579CV2803190deletionNM_173543.3(DZIP1L):c.703_708+8delDZIP1L-related disorder [RCV003404412]uncertain significance3138094854138094867Humanname , trait , alternate_id
402522647CV3127016duplicationNM_173543.3(DZIP1L):c.708+17_708+18dupnot provided [RCV003824934]likely benign3138094843138094844Humanname
150497416CV1281345microsatelliteNM_173543.3(DZIP1L):c.1833-69_1833-67delnot provided [RCV001717848]benign3138067767138067769Humanname
126726224CV1016177single nucleotide variantNM_173543.3(DZIP1L):c.2300G>A (p.Trp767Ter)DZIP1L-related disorder [RCV004754879]|not provided [RCV002462663]pathogenic|uncertain significance3138062820138062820Human1name , trait , alternate_id
126726225CV1016178single nucleotide variantNM_173543.3(DZIP1L):c.727C>T (p.Gln243Ter)DZIP1L-related disorder [RCV004754732]|Polycystic kidney disease 5 [RCV001331851]likely pathogenic3138092526138092526Human1name , trait , alternate_id
151816696CV1433197single nucleotide variantNM_173543.3(DZIP1L):c.2194C>T (p.Leu732=)DZIP1L-related disorder [RCV003923396]|not provided [RCV001954352]likely benign3138062926138062926Human1name , trait , alternate_id
151741965CV1470154single nucleotide variantNM_173543.3(DZIP1L):c.1927C>T (p.Arg643Trp)DZIP1L-related disorder [RCV003911068]|not provided [RCV001871104]uncertain significance3138067606138067606Human1name , trait , alternate_id
152142939CV1538323single nucleotide variantNM_173543.3(DZIP1L):c.710A>G (p.Glu237Gly)DZIP1L-related disorder [RCV003968828]|Inborn genetic diseases [RCV003006979]|not provided [RCV002219616]likely benign|uncertain significance3138092543138092543Human2name , trait , alternate_id
152129955CV1584400single nucleotide variantNM_173543.3(DZIP1L):c.1484G>A (p.Arg495Gln)DZIP1L-related disorder [RCV003968709]|not provided [RCV002082729]benign|likely benign3138071774138071774Human1name , trait , alternate_id
156027353CV1893316single nucleotide variantNM_173543.3(DZIP1L):c.2288G>C (p.Arg763Thr)DZIP1L-related disorder [RCV003953868]|Inborn genetic diseases [RCV004978566]|not provided [RCV003077934]benign|likely benign3138062832138062832Human2name , trait , alternate_id
156130190CV1924699single nucleotide variantNM_173543.3(DZIP1L):c.1739A>G (p.His580Arg)DZIP1L-related disorder [RCV003936624]|not provided [RCV002640680]benign|likely benign3138068244138068244Human1name , trait , alternate_id
156415810CV1987563single nucleotide variantNM_173543.3(DZIP1L):c.2214G>A (p.Glu738=)DZIP1L-related disorder [RCV003971347]|not provided [RCV002609847]likely benign3138062906138062906Human1name , trait , alternate_id
156147048CV2090935single nucleotide variantNM_173543.3(DZIP1L):c.1339C>T (p.Arg447Cys)DZIP1L-related disorder [RCV003936326]|not provided [RCV002890523]benign|likely benign3138077582138077582Human1name , trait , alternate_id
405087837CV3047845single nucleotide variantNM_173543.3(DZIP1L):c.135C>T (p.Arg45=)DZIP1L-related disorder [RCV003981071]|not provided [RCV003717538]likely benign3138103837138103837Human1name , trait , alternate_id
405273112CV3197662single nucleotide variantNM_173543.3(DZIP1L):c.1483C>T (p.Arg495Trp)DZIP1L-related disorder [RCV003901630]|Inborn genetic diseases [RCV004981136]uncertain significance3138071775138071775Human2name , trait , alternate_id
405286088CV3209799single nucleotide variantNM_173543.3(DZIP1L):c.2097C>T (p.Pro699=)DZIP1L-related disorder [RCV003959349]likely benign3138064673138064673Humanname , trait , alternate_id
405295486CV3216074single nucleotide variantNM_173543.3(DZIP1L):c.2040G>A (p.Lys680=)DZIP1L-related disorder [RCV003937410]likely benign3138064730138064730Humanname , trait , alternate_id
405292788CV3217311single nucleotide variantNM_173543.3(DZIP1L):c.345G>A (p.Leu115=)DZIP1L-related disorder [RCV003964709]likely benign3138103627138103627Humanname , trait , alternate_id
405267739CV3219422single nucleotide variantNM_173543.3(DZIP1L):c.1836G>T (p.Thr612=)DZIP1L-related disorder [RCV003969653]likely benign3138067697138067697Humanname , trait , alternate_id
408384700CV3503350deletionNM_173543.3(DZIP1L):c.802_805del (p.Asp268fs)DZIP1L-related disorder [RCV004732032]pathogenic3138092448138092451Humanname , trait , alternate_id
408365687CV3509334single nucleotide variantNM_173543.3(DZIP1L):c.580G>C (p.Glu194Gln)DZIP1L-related disorder [RCV004755210]uncertain significance3138097769138097769Humanname , trait , alternate_id
408365766CV3510268single nucleotide variantNM_173543.3(DZIP1L):c.925C>T (p.Arg309Ter)DZIP1L-related disorder [RCV004755280]|not provided [RCV005103735]pathogenic3138088453138088453Human1name , trait , alternate_id
408365897CV3511331single nucleotide variantNM_173543.3(DZIP1L):c.1721G>A (p.Arg574His)DZIP1L-related disorder [RCV004755352]uncertain significance3138068262138068262Humanname , trait , alternate_id
408366189CV3515770single nucleotide variantNM_173543.3(DZIP1L):c.1560G>T (p.Ala520=)DZIP1L-related disorder [RCV004755611]likely benign3138071698138071698Humanname , trait , alternate_id
408380484CV3517775single nucleotide variantNM_173543.3(DZIP1L):c.1850C>T (p.Ser617Phe)DZIP1L-related disorder [RCV004754206]likely benign3138067683138067683Humanname , trait , alternate_id
15196240CV697857single nucleotide variantNM_173543.3(DZIP1L):c.2233C>T (p.Arg745Cys)DZIP1L-related disorder [RCV003960669]|not provided [RCV000956140]benign|likely benign3138062887138062887Human1name , trait , alternate_id
15189133CV697858single nucleotide variantNM_173543.3(DZIP1L):c.1401C>T (p.Leu467=)DZIP1L-related disorder [RCV003925996]|not provided [RCV000954087]benign|likely benign3138077520138077520Human1name , trait , alternate_id
15171854CV720204single nucleotide variantNM_173543.3(DZIP1L):c.1770C>A (p.Pro590=)DZIP1L-related disorder [RCV003910431]|not provided [RCV000883728]benign|likely benign3138068213138068213Human1name , trait , alternate_id
15197085CV720206single nucleotide variantNM_173543.3(DZIP1L):c.883C>T (p.Leu295=)DZIP1L-related disorder [RCV003968108]|not provided [RCV000889956]benign3138088495138088495Human1name , trait , alternate_id
15123794CV733824single nucleotide variantNM_173543.3(DZIP1L):c.2284C>T (p.Pro762Ser)DZIP1L-related disorder [RCV003958059]|not provided [RCV000896472]benign|likely benign3138062836138062836Human1name , trait , alternate_id
15127440CV733825single nucleotide variantNM_173543.3(DZIP1L):c.1387C>T (p.Leu463=)DZIP1L-related disorder [RCV003922889]|not provided [RCV000897111]likely benign3138077534138077534Human1name , trait , alternate_id
15147829CV733826single nucleotide variantNM_173543.3(DZIP1L):c.1079A>G (p.Gln360Arg)DZIP1L-related disorder [RCV004754619]|not provided [RCV000900601]likely benign3138084237138084237Human1name , trait , alternate_id
405751836CV3238208single nucleotide variantNM_173543.3(DZIP1L):c.6G>T (p.Gln2His)Inborn genetic diseases [RCV004382084]uncertain significance3138103966138103966Human1name
152116552CV1553463single nucleotide variantNM_173543.3(DZIP1L):c.369G>A (p.Gln123=)not provided [RCV002080973]likely benign3138103603138103603Humanname
405131835CV3051190single nucleotide variantNM_173543.3(DZIP1L):c.573C>T (p.Gly191=)not provided [RCV003724895]likely benign3138097776138097776Humanname
404977051CV3127078single nucleotide variantNM_173543.3(DZIP1L):c.981A>G (p.Arg327=)not provided [RCV003825301]likely benign3138088397138088397Humanname
405751802CV3238202single nucleotide variantNM_173543.3(DZIP1L):c.34A>C (p.Ser12Arg)Inborn genetic diseases [RCV004382078]uncertain significance3138103938138103938Human1name
597933689CV3793441single nucleotide variantNM_173543.3(DZIP1L):c.756T>C (p.Phe252=)not provided [RCV005132097]likely benign3138092497138092497Humanname
597944567CV3847913single nucleotide variantNM_173543.3(DZIP1L):c.495C>T (p.Tyr165=)not provided [RCV005188643]likely benign3138103477138103477Humanname
126735963CV1000379single nucleotide variantNM_173543.3(DZIP1L):c.1698G>A (p.Pro566=)not provided [RCV001311627]likely benign3138068285138068285Humanname
150491621CV1225333single nucleotide variantNM_173543.3(DZIP1L):c.1770C>T (p.Pro590=)not provided [RCV001618848]benign3138068213138068213Humanname
150553779CV1304110single nucleotide variantNM_173543.3(DZIP1L):c.256G>T (p.Val86Leu)Polycystic kidney disease 5 [RCV002477985]|not provided [RCV001769495]uncertain significance3138103716138103716Human1name
151765239CV1393692single nucleotide variantNM_173543.3(DZIP1L):c.288C>A (p.Tyr96Ter)not provided [RCV002008309]uncertain significance3138103684138103684Humanname
151784375CV1508542single nucleotide variantNM_173543.3(DZIP1L):c.211G>A (p.Val71Met)not provided [RCV002010033]uncertain significance3138103761138103761Humanname
156418682CV1918621single nucleotide variantNM_173543.3(DZIP1L):c.1653C>G (p.Ala551=)not provided [RCV002611885]likely benign3138068330138068330Humanname
156337601CV1976963single nucleotide variantNM_173543.3(DZIP1L):c.1065A>G (p.Leu355=)not provided [RCV002601113]likely benign3138084251138084251Humanname
156196453CV2038281single nucleotide variantNM_173543.3(DZIP1L):c.142C>T (p.Arg48Trp)Inborn genetic diseases [RCV002766083]|not provided [RCV002766082]uncertain significance3138103830138103830Human1name
155993654CV2095622single nucleotide variantNM_173543.3(DZIP1L):c.1281A>G (p.Pro427=)not provided [RCV002908280]likely benign3138080574138080574Humanname
156006715CV2099786single nucleotide variantNM_173543.3(DZIP1L):c.1968G>A (p.Ser656=)not provided [RCV002908891]likely benign3138067565138067565Humanname
156215079CV2110886single nucleotide variantNM_173543.3(DZIP1L):c.1782C>T (p.Pro594=)not provided [RCV002932227]likely benign3138068201138068201Humanname
156390585CV2122458single nucleotide variantNM_173543.3(DZIP1L):c.1803C>T (p.Ser601=)not provided [RCV002943863]benign3138068180138068180Humanname
156099062CV2132193single nucleotide variantNM_173543.3(DZIP1L):c.110G>A (p.Arg37His)not provided [RCV003002144]uncertain significance3138103862138103862Humanname
155941372CV2142961single nucleotide variantNM_173543.3(DZIP1L):c.2274C>T (p.Ser758=)not provided [RCV002994075]likely benign3138062846138062846Humanname
156289169CV2309658single nucleotide variantNM_173543.3(DZIP1L):c.217A>G (p.Ser73Gly)Inborn genetic diseases [RCV002897047]uncertain significance3138103755138103755Human1name
156209935CV2382698single nucleotide variantNM_173543.3(DZIP1L):c.205C>T (p.Arg69Trp)Inborn genetic diseases [RCV002744004]|not provided [RCV004790464]uncertain significance3138103767138103767Human1name
401912719CV2824970single nucleotide variantNM_173543.3(DZIP1L):c.1005G>A (p.Thr335=)not provided [RCV003427419]likely benign3138087018138087018Humanname
402503587CV2869381single nucleotide variantNM_173543.3(DZIP1L):c.1842G>A (p.Pro614=)not provided [RCV003546062]likely benign3138067691138067691Humanname
405094600CV3022597single nucleotide variantNM_173543.3(DZIP1L):c.1860C>T (p.Asp620=)not provided [RCV003699887]likely benign3138067673138067673Humanname
405153444CV3031539single nucleotide variantNM_173543.3(DZIP1L):c.1902A>T (p.Pro634=)not provided [RCV003703401]likely benign3138067631138067631Humanname
405208014CV3065316single nucleotide variantNM_173543.3(DZIP1L):c.1593C>G (p.Ser531=)not provided [RCV003731590]likely benign3138071665138071665Humanname
405236808CV3169029single nucleotide variantNM_173543.3(DZIP1L):c.1734C>A (p.Gly578=)not provided [RCV003866308]likely benign3138068249138068249Humanname
405751779CV3238198single nucleotide variantNM_173543.3(DZIP1L):c.176T>C (p.Ile59Thr)Inborn genetic diseases [RCV004382074]uncertain significance3138103796138103796Human1name
596930065CV3538676single nucleotide variantNM_173543.3(DZIP1L):c.145G>C (p.Glu49Gln)not provided [RCV004792145]uncertain significance3138103827138103827Humanname
597666127CV3670542single nucleotide variantNM_173543.3(DZIP1L):c.277A>G (p.Ile93Val)Inborn genetic diseases [RCV004979447]uncertain significance3138103695138103695Human1name
597966211CV3859071single nucleotide variantNM_173543.3(DZIP1L):c.2268A>G (p.Pro756=)not provided [RCV005194466]likely benign3138062852138062852Humanname
598227344CV3894496single nucleotide variantNM_173543.3(DZIP1L):c.1375C>T (p.Leu459=)not provided [RCV005257739]likely benign3138077546138077546Humanname
598268312CV3953833single nucleotide variantNM_173543.3(DZIP1L):c.136G>A (p.Val46Met)Inborn genetic diseases [RCV005327074]uncertain significance3138103836138103836Human1name
13210855CV424952single nucleotide variantNM_173543.3(DZIP1L):c.269C>T (p.Ala90Val)Polycystic kidney disease 5 [RCV000496993]pathogenic3138103703138103703Human1name
13217151CV424953single nucleotide variantNM_173543.3(DZIP1L):c.273G>C (p.Gln91His)Polycystic kidney disease 5 [RCV000496986]pathogenic3138103699138103699Human1name
15113870CV720205single nucleotide variantNM_173543.3(DZIP1L):c.1017A>G (p.Arg339=)Polycystic kidney disease 5 [RCV002495414]|not provided [RCV000894752]likely benign3138087006138087006Human1name
150496701CV1245296single nucleotide variantNM_173543.3(DZIP1L):c.961C>T (p.Arg321Trp)Polycystic kidney disease 5 [RCV001659264]|not provided [RCV001676067]benign3138088417138088417Human1name
151750914CV1378019single nucleotide variantNM_173543.3(DZIP1L):c.482G>T (p.Gly161Val)Inborn genetic diseases [RCV002548184]|not provided [RCV002043275]uncertain significance3138103490138103490Human1name
151834733CV1452819single nucleotide variantNM_173543.3(DZIP1L):c.391C>T (p.Arg131Cys)Inborn genetic diseases [RCV002551684]|not provided [RCV001880657]uncertain significance3138103581138103581Human1name
151787485CV1495581single nucleotide variantNM_173543.3(DZIP1L):c.569C>T (p.Ala190Val)not provided [RCV002026874]uncertain significance3138097780138097780Humanname
155803932CV1858500single nucleotide variantNM_173543.3(DZIP1L):c.621G>C (p.Glu207Asp)not provided [RCV002462810]uncertain significance3138094949138094949Humanname
156320743CV1873060single nucleotide variantNM_173543.3(DZIP1L):c.434G>A (p.Arg145Gln)not provided [RCV003063045]benign3138103538138103538Humanname
156362120CV1899092single nucleotide variantNM_173543.3(DZIP1L):c.544C>T (p.Arg182Trp)not provided [RCV003091782]uncertain significance3138097805138097805Humanname
156446812CV1948174single nucleotide variantNM_173543.3(DZIP1L):c.396G>C (p.Gln132His)not provided [RCV003118331]uncertain significance3138103576138103576Humanname
156232956CV2039917single nucleotide variantNM_173543.3(DZIP1L):c.698G>A (p.Arg233Gln)not provided [RCV002805384]uncertain significance3138094872138094872Humanname
156102157CV2088055single nucleotide variantNM_173543.3(DZIP1L):c.881C>A (p.Ala294Glu)not provided [RCV002848123]uncertain significance3138088497138088497Humanname
156100100CV2099228single nucleotide variantNM_173543.3(DZIP1L):c.860C>T (p.Thr287Ile)Inborn genetic diseases [RCV002913370]|not provided [RCV002913369]uncertain significance3138092393138092393Human1name
156285598CV2114847single nucleotide variantNM_173543.3(DZIP1L):c.370C>T (p.Arg124Cys)Inborn genetic diseases [RCV005333385]|not provided [RCV002921939]uncertain significance3138103602138103602Human1name
156357295CV2126161single nucleotide variantNM_173543.3(DZIP1L):c.686C>T (p.Ala229Val)not provided [RCV002966751]benign3138094884138094884Humanname
156213708CV2142156single nucleotide variantNM_173543.3(DZIP1L):c.437G>A (p.Arg146His)not provided [RCV002985698]uncertain significance3138103535138103535Humanname
156161213CV2147392single nucleotide variantNM_173543.3(DZIP1L):c.346C>A (p.Gln116Lys)not provided [RCV003023200]uncertain significance3138103626138103626Humanname
156320069CV2197217single nucleotide variantNM_173543.3(DZIP1L):c.431G>A (p.Arg144His)Inborn genetic diseases [RCV002649096]uncertain significance3138103541138103541Human1name
155981310CV2212237single nucleotide variantNM_173543.3(DZIP1L):c.430C>T (p.Arg144Cys)Inborn genetic diseases [RCV002688394]uncertain significance3138103542138103542Human1name
156377613CV2217069single nucleotide variantNM_173543.3(DZIP1L):c.574G>A (p.Val192Met)Inborn genetic diseases [RCV002678048]likely benign3138097775138097775Human1name
156339866CV2229360single nucleotide variantNM_173543.3(DZIP1L):c.833T>A (p.Phe278Tyr)Inborn genetic diseases [RCV002718991]uncertain significance3138092420138092420Human1name
156007816CV2288378single nucleotide variantNM_173543.3(DZIP1L):c.607C>G (p.Gln203Glu)Inborn genetic diseases [RCV002865927]uncertain significance3138094963138094963Human1name
401734646CV2690642single nucleotide variantNM_173543.3(DZIP1L):c.693G>T (p.Arg231Ser)Inborn genetic diseases [RCV003249542]uncertain significance3138094877138094877Human1name
401888000CV2768949single nucleotide variantNM_173543.3(DZIP1L):c.910A>C (p.Lys304Gln)Inborn genetic diseases [RCV003352694]uncertain significance3138088468138088468Human1name
401868694CV2781941single nucleotide variantNM_173543.3(DZIP1L):c.322G>A (p.Val108Ile)Inborn genetic diseases [RCV003360530]likely benign3138103650138103650Human1name
405751810CV3238203single nucleotide variantNM_173543.3(DZIP1L):c.392G>A (p.Arg131His)Inborn genetic diseases [RCV004382079]uncertain significance3138103580138103580Human1name
405751820CV3238205single nucleotide variantNM_173543.3(DZIP1L):c.560G>A (p.Arg187His)Inborn genetic diseases [RCV004382081]uncertain significance3138097789138097789Human1name
405751827CV3238206single nucleotide variantNM_173543.3(DZIP1L):c.604G>C (p.Glu202Gln)Inborn genetic diseases [RCV004382082]uncertain significance3138094966138094966Human1name
405751832CV3238207single nucleotide variantNM_173543.3(DZIP1L):c.637C>T (p.Arg213Trp)Inborn genetic diseases [RCV004382083]uncertain significance3138094933138094933Human1name
405751843CV3238209single nucleotide variantNM_173543.3(DZIP1L):c.725A>G (p.His242Arg)Inborn genetic diseases [RCV004382085]likely benign3138092528138092528Human1name
405751851CV3238210single nucleotide variantNM_173543.3(DZIP1L):c.823T>C (p.Trp275Arg)Inborn genetic diseases [RCV004382086]uncertain significance3138092430138092430Human1name
405751857CV3238211single nucleotide variantNM_173543.3(DZIP1L):c.877C>T (p.Arg293Trp)Inborn genetic diseases [RCV004382087]uncertain significance3138088501138088501Human1name
407477747CV3431309single nucleotide variantNM_173543.3(DZIP1L):c.982G>A (p.Glu328Lys)Inborn genetic diseases [RCV004617380]uncertain significance3138088396138088396Human1name
407477751CV3431310single nucleotide variantNM_173543.3(DZIP1L):c.418C>T (p.Arg140Trp)Inborn genetic diseases [RCV004617381]uncertain significance3138103554138103554Human1name
597666110CV3670538single nucleotide variantNM_173543.3(DZIP1L):c.451A>G (p.Ser151Gly)Inborn genetic diseases [RCV004979444]uncertain significance3138103521138103521Human1name
597666129CV3670543single nucleotide variantNM_173543.3(DZIP1L):c.926G>A (p.Arg309Gln)Inborn genetic diseases [RCV004979448]uncertain significance3138088452138088452Human1name
597666154CV3670547single nucleotide variantNM_173543.3(DZIP1L):c.631G>A (p.Glu211Lys)Inborn genetic diseases [RCV004979452]uncertain significance3138094939138094939Human1name
597666160CV3670548single nucleotide variantNM_173543.3(DZIP1L):c.862C>G (p.Leu288Val)Inborn genetic diseases [RCV004979453]uncertain significance3138092391138092391Human1name
597666163CV3670549single nucleotide variantNM_173543.3(DZIP1L):c.422A>C (p.Glu141Ala)Inborn genetic diseases [RCV004979454]uncertain significance3138103550138103550Human1name
597914952CV3817603single nucleotide variantNM_173543.3(DZIP1L):c.341G>A (p.Arg114Gln)not provided [RCV005154805]uncertain significance3138103631138103631Humanname
597876294CV3829809single nucleotide variantNM_173543.3(DZIP1L):c.492C>G (p.Ser164Arg)not provided [RCV005177517]uncertain significance3138103480138103480Humanname
598268315CV3953834single nucleotide variantNM_173543.3(DZIP1L):c.598A>G (p.Lys200Glu)Inborn genetic diseases [RCV005327075]uncertain significance3138094972138094972Human1name
598268319CV3953835single nucleotide variantNM_173543.3(DZIP1L):c.482G>A (p.Gly161Asp)Inborn genetic diseases [RCV005327076]uncertain significance3138103490138103490Human1name
13217153CV424954single nucleotide variantNM_173543.3(DZIP1L):c.463C>T (p.Gln155Ter)Polycystic kidney disease 5 [RCV000496990]pathogenic3138103509138103509Human1name
15144126CV733827single nucleotide variantNM_173543.3(DZIP1L):c.529A>G (p.Asn177Asp)not provided [RCV000899951]likely benign3138097820138097820Humanname
150336557CV1165653single nucleotide variantNM_173543.3(DZIP1L):c.1783G>A (p.Gly595Arg)not provided [RCV001532007]uncertain significance3138068200138068200Humanname
150492313CV1225449single nucleotide variantNM_173543.3(DZIP1L):c.1652C>T (p.Ala551Val)not provided [RCV001618964]benign3138068331138068331Humanname
150493088CV1238601single nucleotide variantNM_173543.3(DZIP1L):c.1778G>A (p.Arg593His)Polycystic kidney disease 5 [RCV001658388]|not provided [RCV001655145]benign3138068205138068205Human1name
150483468CV1245116single nucleotide variantNM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu)Polycystic kidney disease 5 [RCV001659248]|not provided [RCV001653293]benign3138067600138067600Human1name
150435508CV1245295single nucleotide variantNM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala)Polycystic kidney disease 5 [RCV001659263]|not provided [RCV001707913]benign3138068350138068350Human1name
151857337CV1347363single nucleotide variantNM_173543.3(DZIP1L):c.1966T>G (p.Ser656Ala)not provided [RCV002033936]uncertain significance3138067567138067567Humanname
151744188CV1404638single nucleotide variantNM_173543.3(DZIP1L):c.2273G>A (p.Ser758Asn)Inborn genetic diseases [RCV004046061]|not provided [RCV002022632]uncertain significance3138062847138062847Human1name
151792551CV1422938single nucleotide variantNM_173543.3(DZIP1L):c.1709C>A (p.Pro570His)not provided [RCV001916958]uncertain significance3138068274138068274Humanname
151815825CV1432893single nucleotide variantNM_173543.3(DZIP1L):c.2246C>A (p.Pro749Gln)not provided [RCV001954272]uncertain significance3138062874138062874Humanname
152069537CV1571039single nucleotide variantNM_173543.3(DZIP1L):c.1238T>A (p.Ile413Asn)Inborn genetic diseases [RCV004046301]|not provided [RCV002129424]likely benign|uncertain significance3138080617138080617Human1name
152061453CV1611104single nucleotide variantNM_173543.3(DZIP1L):c.1784G>A (p.Gly595Glu)not provided [RCV002146824]benign3138068199138068199Humanname
152176590CV1631613single nucleotide variantNM_173543.3(DZIP1L):c.1830G>A (p.Met610Ile)Inborn genetic diseases [RCV002553003]|not provided [RCV002164736]likely benign|uncertain significance3138068153138068153Human1name
152146874CV1655984single nucleotide variantNM_173543.3(DZIP1L):c.1277C>T (p.Ser426Phe)not provided [RCV002220187]benign3138080578138080578Humanname
156334802CV1905911single nucleotide variantNM_173543.3(DZIP1L):c.1874G>A (p.Arg625His)not provided [RCV003090006]uncertain significance3138067659138067659Humanname
156024488CV1922335single nucleotide variantNM_173543.3(DZIP1L):c.1541A>G (p.Lys514Arg)Inborn genetic diseases [RCV002636872]|not provided [RCV002611766]uncertain significance3138071717138071717Human1name
156304150CV1931182single nucleotide variantNM_173543.3(DZIP1L):c.1499G>A (p.Arg500Gln)not provided [RCV002647797]uncertain significance3138071759138071759Humanname
156444263CV1937791single nucleotide variantNM_173543.3(DZIP1L):c.1697C>T (p.Pro566Leu)not provided [RCV003115186]uncertain significance3138068286138068286Humanname
156442131CV1938033single nucleotide variantNM_173543.3(DZIP1L):c.1765G>A (p.Ala589Thr)Inborn genetic diseases [RCV004244630]|not provided [RCV003112468]likely benign|uncertain significance3138068218138068218Human1name
156337574CV1976962single nucleotide variantNM_173543.3(DZIP1L):c.1720C>T (p.Arg574Cys)Inborn genetic diseases [RCV005333266]|not provided [RCV002601112]uncertain significance3138068263138068263Human1name
156196746CV2004863single nucleotide variantNM_173543.3(DZIP1L):c.1130C>T (p.Ser377Phe)not provided [RCV002643492]uncertain significance3138084186138084186Humanname
156123831CV2012238single nucleotide variantNM_173543.3(DZIP1L):c.2002G>T (p.Gly668Ter)not provided [RCV002696142]pathogenic|uncertain significance3138067531138067531Humanname
156025998CV2020264single nucleotide variantNM_173543.3(DZIP1L):c.2045T>C (p.Leu682Pro)not provided [RCV002691229]uncertain significance3138064725138064725Humanname
156227486CV2048412single nucleotide variantNM_173543.3(DZIP1L):c.2089T>G (p.Phe697Val)Inborn genetic diseases [RCV004973650]|not provided [RCV002790867]uncertain significance3138064681138064681Human1name
156309086CV2085858single nucleotide variantNM_173543.3(DZIP1L):c.2255T>G (p.Phe752Cys)not provided [RCV002898608]uncertain significance3138062865138062865Humanname
156108951CV2096616single nucleotide variantNM_173543.3(DZIP1L):c.1882C>T (p.Arg628Cys)Inborn genetic diseases [RCV002913699]|not provided [RCV002913698]uncertain significance3138067651138067651Human1name
155921160CV2102410single nucleotide variantNM_173543.3(DZIP1L):c.1537G>C (p.Val513Leu)not provided [RCV002903361]uncertain significance3138071721138071721Humanname
156091801CV2102706single nucleotide variantNM_173543.3(DZIP1L):c.1414A>T (p.Ile472Leu)not provided [RCV002913066]uncertain significance3138077507138077507Humanname
156123615CV2107813single nucleotide variantNM_173543.3(DZIP1L):c.1243A>G (p.Lys415Glu)not provided [RCV002914266]uncertain significance3138080612138080612Humanname
156321013CV2112017single nucleotide variantNM_173543.3(DZIP1L):c.1681G>T (p.Ala561Ser)not provided [RCV002937750]benign3138068302138068302Humanname
156374465CV2123961single nucleotide variantNM_173543.3(DZIP1L):c.1498C>T (p.Arg500Trp)Inborn genetic diseases [RCV003170644]|not provided [RCV002942592]uncertain significance3138071760138071760Human1name
156233104CV2137158single nucleotide variantNM_173543.3(DZIP1L):c.1771G>A (p.Ala591Thr)not provided [RCV003007815]uncertain significance3138068212138068212Humanname
156182361CV2243017single nucleotide variantNM_173543.3(DZIP1L):c.1987C>T (p.Pro663Ser)Inborn genetic diseases [RCV002802356]uncertain significance3138067546138067546Human1name
155989660CV2244283single nucleotide variantNM_173543.3(DZIP1L):c.1873C>T (p.Arg625Cys)Inborn genetic diseases [RCV002733196]uncertain significance3138067660138067660Human1name
156219755CV2254086single nucleotide variantNM_173543.3(DZIP1L):c.2117C>A (p.Ala706Asp)Inborn genetic diseases [RCV002804650]uncertain significance3138064653138064653Human1name
156360800CV2269110single nucleotide variantNM_173543.3(DZIP1L):c.1543G>C (p.Glu515Gln)Inborn genetic diseases [RCV002812792]uncertain significance3138071715138071715Human1name
156032729CV2275043single nucleotide variantNM_173543.3(DZIP1L):c.2234G>A (p.Arg745His)Inborn genetic diseases [RCV002845499]uncertain significance3138062886138062886Human1name
155916275CV2282002single nucleotide variantNM_173543.3(DZIP1L):c.1216T>C (p.Ser406Pro)Inborn genetic diseases [RCV002859007]uncertain significance3138081752138081752Human1name
156272832CV2308879single nucleotide variantNM_173543.3(DZIP1L):c.1558G>A (p.Ala520Thr)Inborn genetic diseases [RCV002934449]uncertain significance3138071700138071700Human1name
156280762CV2316004single nucleotide variantNM_173543.3(DZIP1L):c.1742G>T (p.Gly581Val)Inborn genetic diseases [RCV002934923]uncertain significance3138068241138068241Human1name
156163062CV2323581single nucleotide variantNM_173543.3(DZIP1L):c.1081A>G (p.Arg361Gly)Inborn genetic diseases [RCV002929396]uncertain significance3138084235138084235Human1name
156163081CV2323582single nucleotide variantNM_173543.3(DZIP1L):c.1825G>T (p.Gly609Trp)Inborn genetic diseases [RCV002929397]uncertain significance3138068158138068158Human1name
155901840CV2345879single nucleotide variantNM_173543.3(DZIP1L):c.2239A>G (p.Lys747Glu)Inborn genetic diseases [RCV002989879]uncertain significance3138062881138062881Human1name
156169716CV2400506single nucleotide variantNM_173543.3(DZIP1L):c.1825G>A (p.Gly609Arg)Inborn genetic diseases [RCV002765219]|Polycystic kidney disease 5 [RCV003340657]uncertain significance3138068158138068158Human2name
243049565CV2416838single nucleotide variantNM_173543.3(DZIP1L):c.2047G>T (p.Glu683Ter)not specified [RCV003151510]uncertain significance3138064723138064723Humanname
329363384CV2465073single nucleotide variantNM_173543.3(DZIP1L):c.1193A>C (p.Gln398Pro)Inborn genetic diseases [RCV003206369]uncertain significance3138084123138084123Human1name
401741420CV2680403single nucleotide variantNM_173543.3(DZIP1L):c.1570C>G (p.Gln524Glu)Inborn genetic diseases [RCV003251452]uncertain significance3138071688138071688Human1name
401758430CV2694099single nucleotide variantNM_173543.3(DZIP1L):c.1835C>T (p.Thr612Met)Inborn genetic diseases [RCV003279731]uncertain significance3138067698138067698Human1name
401889337CV2759780single nucleotide variantNM_173543.3(DZIP1L):c.1920G>A (p.Met640Ile)Inborn genetic diseases [RCV003353845]uncertain significance3138067613138067613Human1name
401879346CV2791484single nucleotide variantNM_173543.3(DZIP1L):c.1091C>G (p.Ala364Gly)Inborn genetic diseases [RCV003384628]uncertain significance3138084225138084225Human1name
405074728CV3140692single nucleotide variantNM_173543.3(DZIP1L):c.1072G>T (p.Glu358Ter)not provided [RCV003833655]pathogenic3138084244138084244Humanname
405236043CV3166408single nucleotide variantNM_173543.3(DZIP1L):c.1650G>C (p.Glu550Asp)not provided [RCV003853857]uncertain significance3138068333138068333Humanname
405709775CV3225617single nucleotide variantNM_173543.3(DZIP1L):c.2014C>T (p.Gln672Ter)Polycystic kidney disease 5 [RCV003990674]likely pathogenic3138064756138064756Human1name
405751764CV3238196single nucleotide variantNM_173543.3(DZIP1L):c.1148C>T (p.Thr383Ile)Inborn genetic diseases [RCV004382072]uncertain significance3138084168138084168Human1name
405751770CV3238197single nucleotide variantNM_173543.3(DZIP1L):c.1745C>G (p.Ser582Cys)Inborn genetic diseases [RCV004382073]uncertain significance3138068238138068238Human1name
405751785CV3238199single nucleotide variantNM_173543.3(DZIP1L):c.1796C>T (p.Pro599Leu)Inborn genetic diseases [RCV004382075]uncertain significance3138068187138068187Human1name
405751793CV3238200single nucleotide variantNM_173543.3(DZIP1L):c.1817C>T (p.Ser606Leu)Inborn genetic diseases [RCV004382076]uncertain significance3138068166138068166Human1name
405751796CV3238201single nucleotide variantNM_173543.3(DZIP1L):c.2204A>G (p.Asp735Gly)Inborn genetic diseases [RCV004382077]uncertain significance3138062916138062916Human1name
407428961CV3413348single nucleotide variantNM_173543.3(DZIP1L):c.1570C>T (p.Gln524Ter)Polycystic kidney disease 5 [RCV004594754]likely pathogenic3138071688138071688Human1name
407477756CV3431311single nucleotide variantNM_173543.3(DZIP1L):c.1459C>A (p.Leu487Met)Inborn genetic diseases [RCV004617382]uncertain significance3138071799138071799Human1name
407477761CV3431312single nucleotide variantNM_173543.3(DZIP1L):c.1154G>A (p.Arg385His)Inborn genetic diseases [RCV004617383]uncertain significance3138084162138084162Human1name
407477765CV3431313single nucleotide variantNM_173543.3(DZIP1L):c.1021G>C (p.Val341Leu)Inborn genetic diseases [RCV004617384]uncertain significance3138087002138087002Human1name
597666106CV3670537single nucleotide variantNM_173543.3(DZIP1L):c.1841C>T (p.Pro614Leu)Inborn genetic diseases [RCV004979443]uncertain significance3138067692138067692Human1name
597666115CV3670540single nucleotide variantNM_173543.3(DZIP1L):c.1028A>G (p.Glu343Gly)Inborn genetic diseases [RCV004979445]uncertain significance3138086995138086995Human1name
597666121CV3670541single nucleotide variantNM_173543.3(DZIP1L):c.2068G>A (p.Ala690Thr)Inborn genetic diseases [RCV004979446]uncertain significance3138064702138064702Human1name
597666135CV3670544single nucleotide variantNM_173543.3(DZIP1L):c.1885G>T (p.Val629Leu)Inborn genetic diseases [RCV004979449]uncertain significance3138067648138067648Human1name
597666141CV3670545single nucleotide variantNM_173543.3(DZIP1L):c.1313A>G (p.Gln438Arg)Inborn genetic diseases [RCV004979450]uncertain significance3138077608138077608Human1name
597666147CV3670546single nucleotide variantNM_173543.3(DZIP1L):c.1300T>A (p.Ser434Thr)Inborn genetic diseases [RCV004979451]uncertain significance3138077621138077621Human1name
597666168CV3670551single nucleotide variantNM_173543.3(DZIP1L):c.1994A>G (p.Gln665Arg)Inborn genetic diseases [RCV004979455]likely benign3138067539138067539Human1name
597666173CV3670552single nucleotide variantNM_173543.3(DZIP1L):c.1987C>G (p.Pro663Ala)Inborn genetic diseases [RCV004979456]uncertain significance3138067546138067546Human1name
597713287CV3724306single nucleotide variantNM_173543.3(DZIP1L):c.1681G>A (p.Ala561Thr)Polycystic kidney disease 5 [RCV005035014]uncertain significance3138068302138068302Human1name
598268295CV3953828single nucleotide variantNM_173543.3(DZIP1L):c.2018C>T (p.Ser673Leu)Inborn genetic diseases [RCV005327069]uncertain significance3138064752138064752Human1name
598268299CV3953829single nucleotide variantNM_173543.3(DZIP1L):c.1227G>T (p.Lys409Asn)Inborn genetic diseases [RCV005327070]uncertain significance3138081741138081741Human1name
598268301CV3953830single nucleotide variantNM_173543.3(DZIP1L):c.1445A>T (p.Gln482Leu)Inborn genetic diseases [RCV005327071]uncertain significance3138071813138071813Human1name
598268306CV3953831single nucleotide variantNM_173543.3(DZIP1L):c.1805C>T (p.Thr602Ile)Inborn genetic diseases [RCV005327072]uncertain significance3138068178138068178Human1name
8630615CV85770single nucleotide variantNM_173543.2(DZIP1L):c.1811C>T (p.Pro604Leu)Malignant melanoma [RCV000065853]not provided3138068172138068172Humanname
597936790CV3759846microsatelliteNM_173543.3(DZIP1L):c.857_858del (p.Ser286fs)not provided [RCV005076768]pathogenic3138092395138092396Humanname
243049564CV2416837microsatelliteNM_173543.3(DZIP1L):c.1268_1269del (p.Glu423fs)not provided [RCV003151509]likely pathogenic3138080586138080587Humanname
13217155CV424955microsatelliteNM_173543.3(DZIP1L):c.1061_1062del (p.Glu354fs)Polycystic kidney disease 5 [RCV000496995]pathogenic3138086961138086962Humanname