Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


88 records found for search term Naaladl2
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405259953CV3190126single nucleotide variantNM_207015.3(NAALADL2):c.819+8G>TNAALADL2-related disorder [RCV003894529]likely benign3175234212175234212Humanname , trait , alternate_id
8578400CV112781single nucleotide variantNM_207015.2(NAALADL2):c.546-3530A>TLung cancer [RCV000093304]uncertain significance3175230401175230401Humanname
8578401CV112782single nucleotide variantNM_207015.2(NAALADL2):c.1090+804A>TLung cancer [RCV000093305]uncertain significance3175325129175325129Humanname
598204572CV3987067single nucleotide variantNM_207015.3(NAALADL2):c.25C>A (p.Pro9Thr)not specified [RCV005376621]uncertain significance3174859432174859432Humanname
156278624CV2284969single nucleotide variantNM_207015.3(NAALADL2):c.95A>T (p.His32Leu)not specified [RCV004143407]uncertain significance3175096841175096841Humanname
156055975CV2343436single nucleotide variantNM_207015.3(NAALADL2):c.77A>G (p.Asp26Gly)not specified [RCV004197510]uncertain significance3175096823175096823Humanname
405262027CV3220031single nucleotide variantNM_207015.3(NAALADL2):c.693G>A (p.Val231=)NAALADL2-related disorder [RCV003967177]likely benign3175234078175234078Humanname , trait , alternate_id
156004888CV2357608single nucleotide variantNM_207015.3(NAALADL2):c.288G>T (p.Arg96Ser)not specified [RCV004202869]uncertain significance3175097034175097034Humanname
401874343CV2773909single nucleotide variantNM_207015.3(NAALADL2):c.229T>G (p.Ser77Ala)not specified [RCV004358340]uncertain significance3175096975175096975Humanname
401927587CV2825067single nucleotide variantNM_207015.3(NAALADL2):c.2283C>A (p.Thr761=)not provided [RCV003439055]likely benign3175803098175803098Humanname
405707185CV3327639single nucleotide variantNM_207015.3(NAALADL2):c.257C>A (p.Ser86Tyr)not specified [RCV004461231]uncertain significance3175097003175097003Humanname
407520506CV3447828single nucleotide variantNM_207015.3(NAALADL2):c.190T>A (p.Phe64Ile)not specified [RCV004652224]uncertain significance3175096936175096936Humanname
597652899CV3555438single nucleotide variantNM_207015.3(NAALADL2):c.154A>G (p.Met52Val)not specified [RCV004833881]uncertain significance3175096900175096900Humanname
597652939CV3555444single nucleotide variantNM_207015.3(NAALADL2):c.199G>A (p.Asp67Asn)not specified [RCV004833887]uncertain significance3175096945175096945Humanname
156399668CV2202142single nucleotide variantNM_207015.3(NAALADL2):c.567A>C (p.Lys189Asn)not specified [RCV004078092]uncertain significance3175233952175233952Humanname
156062656CV2240085single nucleotide variantNM_207015.3(NAALADL2):c.983A>G (p.Tyr328Cys)not specified [RCV004110859]uncertain significance3175324218175324218Humanname
156065705CV2240315single nucleotide variantNM_207015.3(NAALADL2):c.425T>C (p.Ile142Thr)not specified [RCV004112869]uncertain significance3175097171175097171Humanname
156275109CV2279909single nucleotide variantNM_207015.3(NAALADL2):c.599T>C (p.Ile200Thr)not specified [RCV004144498]uncertain significance3175233984175233984Humanname
156125188CV2283612single nucleotide variantNM_207015.3(NAALADL2):c.493T>C (p.Tyr165His)not specified [RCV004140116]uncertain significance3175097239175097239Humanname
155965708CV2330601single nucleotide variantNM_207015.3(NAALADL2):c.832G>A (p.Asp278Asn)not specified [RCV004183197]uncertain significance3175256423175256423Humanname
156093494CV2382092single nucleotide variantNM_207015.3(NAALADL2):c.685A>G (p.Ser229Gly)not specified [RCV004228057]uncertain significance3175234070175234070Humanname
329376823CV2455200single nucleotide variantNM_207015.3(NAALADL2):c.866G>C (p.Arg289Thr)not specified [RCV004274430]uncertain significance3175256457175256457Humanname
401863482CV2776935single nucleotide variantNM_207015.3(NAALADL2):c.521C>G (p.Ala174Gly)not specified [RCV004351748]uncertain significance3175097267175097267Humanname
401879739CV2788496single nucleotide variantNM_207015.3(NAALADL2):c.605C>T (p.Thr202Ile)not specified [RCV004359478]uncertain significance3175233990175233990Humanname
401922988CV2825066single nucleotide variantNM_207015.3(NAALADL2):c.373G>A (p.Val125Ile)not provided [RCV003434797]likely benign3175097119175097119Humanname
405278808CV3212686single nucleotide variantNM_207015.3(NAALADL2):c.559C>G (p.Leu187Val)NAALADL2-related disorder [RCV003954713]likely benign3175233944175233944Humanname , trait , alternate_id
405707466CV3323841single nucleotide variantNM_207015.3(NAALADL2):c.708T>A (p.Ser236Arg)not specified [RCV004461271]uncertain significance3175234093175234093Humanname
405707225CV3327645single nucleotide variantNM_207015.3(NAALADL2):c.355C>T (p.Arg119Cys)not specified [RCV004461237]uncertain significance3175097101175097101Humanname
405707251CV3327648single nucleotide variantNM_207015.3(NAALADL2):c.362A>G (p.Asn121Ser)not specified [RCV004461240]uncertain significance3175097108175097108Humanname
405707270CV3327651single nucleotide variantNM_207015.3(NAALADL2):c.389G>A (p.Cys130Tyr)not specified [RCV004461243]uncertain significance3175097135175097135Humanname
405707290CV3327654single nucleotide variantNM_207015.3(NAALADL2):c.389G>T (p.Cys130Phe)not specified [RCV004461246]uncertain significance3175097135175097135Humanname
405707373CV3327666single nucleotide variantNM_207015.3(NAALADL2):c.526G>C (p.Asp176His)not specified [RCV004461258]uncertain significance3175097272175097272Humanname
405707390CV3327668single nucleotide variantNM_207015.3(NAALADL2):c.537G>C (p.Lys179Asn)not specified [RCV004461260]uncertain significance3175097283175097283Humanname
597652944CV3555445single nucleotide variantNM_207015.3(NAALADL2):c.394G>A (p.Ala132Thr)not specified [RCV004833888]uncertain significance3175097140175097140Humanname
598204604CV3987072single nucleotide variantNM_207015.3(NAALADL2):c.427G>T (p.Gly143Cys)not specified [RCV005376626]uncertain significance3175097173175097173Humanname
8630695CV85850single nucleotide variantNM_207015.2(NAALADL2):c.305A>T (p.Glu102Val)Malignant melanoma [RCV000065933]not provided3175097051175097051Humanname
156067977CV2221967single nucleotide variantNM_207015.3(NAALADL2):c.2111G>T (p.Arg704Leu)not specified [RCV004102962]uncertain significance3175755340175755340Humanname
156135532CV2256911single nucleotide variantNM_207015.3(NAALADL2):c.1660A>T (p.Asn554Tyr)not specified [RCV004121112]uncertain significance3175576047175576047Humanname
156230404CV2264107single nucleotide variantNM_207015.3(NAALADL2):c.2266C>T (p.Leu756Phe)not specified [RCV004136269]uncertain significance3175803081175803081Humanname
155911303CV2303792single nucleotide variantNM_207015.3(NAALADL2):c.1075G>C (p.Gly359Arg)not specified [RCV004163633]uncertain significance3175324310175324310Humanname
155963823CV2330372single nucleotide variantNM_207015.3(NAALADL2):c.2110C>T (p.Arg704Cys)not specified [RCV004180947]uncertain significance3175755339175755339Humanname
156203464CV2334941single nucleotide variantNM_207015.3(NAALADL2):c.1807A>G (p.Ser603Gly)not specified [RCV004182042]uncertain significance3175627297175627297Humanname
156170063CV2337410single nucleotide variantNM_207015.3(NAALADL2):c.1330C>T (p.Arg444Trp)not specified [RCV004187852]uncertain significance3175466981175466981Humanname
156175889CV2355726single nucleotide variantNM_207015.3(NAALADL2):c.2032C>T (p.Arg678Cys)not specified [RCV004199087]uncertain significance3175755261175755261Humanname
155997213CV2393285single nucleotide variantNM_207015.3(NAALADL2):c.1211G>A (p.Ser404Asn)not specified [RCV004228798]uncertain significance3175447349175447349Humanname
156152946CV2394913single nucleotide variantNM_207015.3(NAALADL2):c.1679G>A (p.Arg560Lys)not specified [RCV004234565]uncertain significance3175576066175576066Humanname
155909100CV2397609single nucleotide variantNM_207015.3(NAALADL2):c.1958A>G (p.Asp653Gly)not specified [RCV004237064]uncertain significance3175737367175737367Humanname
329375698CV2468767single nucleotide variantNM_207015.3(NAALADL2):c.2363A>G (p.Lys788Arg)not specified [RCV004280087]likely benign3175803178175803178Humanname
401757978CV2685654single nucleotide variantNM_207015.3(NAALADL2):c.2315G>A (p.Ser772Asn)not specified [RCV004294661]uncertain significance3175803130175803130Humanname
401765897CV2717919single nucleotide variantNM_207015.3(NAALADL2):c.1012G>T (p.Val338Leu)not specified [RCV004321882]uncertain significance3175324247175324247Humanname
401723213CV2724817single nucleotide variantNM_207015.3(NAALADL2):c.2324C>T (p.Ser775Leu)not specified [RCV004317813]uncertain significance3175803139175803139Humanname
401779466CV2731835single nucleotide variantNM_207015.3(NAALADL2):c.1681G>C (p.Ala561Pro)not specified [RCV004333087]uncertain significance3175576068175576068Humanname
401870625CV2755955single nucleotide variantNM_207015.3(NAALADL2):c.2233A>G (p.Ile745Val)not specified [RCV004336041]uncertain significance3175803048175803048Humanname
405706549CV3327547single nucleotide variantNM_207015.3(NAALADL2):c.1031C>T (p.Thr344Ile)not specified [RCV004461139]uncertain significance3175324266175324266Humanname
405706659CV3327563single nucleotide variantNM_207015.3(NAALADL2):c.1246G>A (p.Val416Ile)not specified [RCV004461155]likely benign3175463412175463412Humanname
405706678CV3327566single nucleotide variantNM_207015.3(NAALADL2):c.1459C>A (p.Pro487Thr)not specified [RCV004461158]uncertain significance3175467110175467110Humanname
405706698CV3327569single nucleotide variantNM_207015.3(NAALADL2):c.1595G>A (p.Arg532Lys)not specified [RCV004461161]uncertain significance3175471700175471700Humanname
405706772CV3327579single nucleotide variantNM_207015.3(NAALADL2):c.1717A>G (p.Ile573Val)not specified [RCV004461171]uncertain significance3175576104175576104Humanname
405706806CV3327584single nucleotide variantNM_207015.3(NAALADL2):c.1782G>C (p.Glu594Asp)not specified [RCV004461176]uncertain significance3175576169175576169Humanname
405706822CV3327586single nucleotide variantNM_207015.3(NAALADL2):c.1802G>A (p.Gly601Asp)not specified [RCV004461178]uncertain significance3175627292175627292Humanname
405706920CV3327600single nucleotide variantNM_207015.3(NAALADL2):c.2048C>T (p.Ala683Val)not specified [RCV004461192]uncertain significance3175755277175755277Humanname
405707012CV3327612single nucleotide variantNM_207015.3(NAALADL2):c.2121G>A (p.Met707Ile)not specified [RCV004461204]uncertain significance3175755350175755350Humanname
405707055CV3327619single nucleotide variantNM_207015.3(NAALADL2):c.2235A>G (p.Ile745Met)not specified [RCV004461211]uncertain significance3175803050175803050Humanname
407520501CV3447823single nucleotide variantNM_207015.3(NAALADL2):c.1334A>G (p.Tyr445Cys)not specified [RCV004652222]uncertain significance3175466985175466985Humanname
407487625CV3447824single nucleotide variantNM_207015.3(NAALADL2):c.1367A>G (p.His456Arg)not specified [RCV004641129]uncertain significance3175467018175467018Humanname
407487632CV3447825single nucleotide variantNM_207015.3(NAALADL2):c.2042A>G (p.Glu681Gly)not specified [RCV004641130]uncertain significance3175755271175755271Humanname
407520503CV3447826single nucleotide variantNM_207015.3(NAALADL2):c.1321T>A (p.Ser441Thr)not specified [RCV004652223]uncertain significance3175463487175463487Humanname
407487638CV3447827single nucleotide variantNM_207015.3(NAALADL2):c.1205C>T (p.Ala402Val)not specified [RCV004641131]likely benign3175447343175447343Humanname
407487643CV3447829single nucleotide variantNM_207015.3(NAALADL2):c.1802G>T (p.Gly601Val)not specified [RCV004641132]uncertain significance3175627292175627292Humanname
407487647CV3447830single nucleotide variantNM_207015.3(NAALADL2):c.1514G>T (p.Gly505Val)not specified [RCV004641133]uncertain significance3175467165175467165Humanname
597652870CV3555434single nucleotide variantNM_207015.3(NAALADL2):c.1023C>G (p.Ser341Arg)not specified [RCV004833877]uncertain significance3175324258175324258Humanname
597652877CV3555435single nucleotide variantNM_207015.3(NAALADL2):c.1765G>T (p.Val589Leu)not specified [RCV004833878]uncertain significance3175576152175576152Humanname
597652884CV3555436single nucleotide variantNM_207015.3(NAALADL2):c.1589C>T (p.Pro530Leu)not specified [RCV004833879]uncertain significance3175471694175471694Humanname
597652892CV3555437single nucleotide variantNM_207015.3(NAALADL2):c.2075G>A (p.Arg692Gln)not specified [RCV004833880]uncertain significance3175755304175755304Humanname
597652907CV3555439single nucleotide variantNM_207015.3(NAALADL2):c.1474G>A (p.Val492Ile)not specified [RCV004833882]uncertain significance3175467125175467125Humanname
597652914CV3555440single nucleotide variantNM_207015.3(NAALADL2):c.2080G>A (p.Ala694Thr)not specified [RCV004833883]uncertain significance3175755309175755309Humanname
597652919CV3555441single nucleotide variantNM_207015.3(NAALADL2):c.2366G>A (p.Ser789Asn)not specified [RCV004833884]uncertain significance3175803181175803181Humanname
597652927CV3555442single nucleotide variantNM_207015.3(NAALADL2):c.1160T>C (p.Val387Ala)not specified [RCV004833885]uncertain significance3175447298175447298Humanname
597652932CV3555443single nucleotide variantNM_207015.3(NAALADL2):c.1595G>T (p.Arg532Met)not specified [RCV004833886]uncertain significance3175471700175471700Humanname
597652953CV3555446single nucleotide variantNM_207015.3(NAALADL2):c.1466G>T (p.Arg489Leu)not specified [RCV004833889]uncertain significance3175467117175467117Humanname
598204560CV3987065single nucleotide variantNM_207015.3(NAALADL2):c.1490G>A (p.Gly497Glu)not specified [RCV005376619]uncertain significance3175467141175467141Humanname
598204566CV3987066single nucleotide variantNM_207015.3(NAALADL2):c.1864C>A (p.Pro622Thr)not specified [RCV005376620]uncertain significance3175627354175627354Humanname
598204584CV3987069single nucleotide variantNM_207015.3(NAALADL2):c.2330A>G (p.Gln777Arg)not specified [RCV005376623]uncertain significance3175803145175803145Humanname
598204591CV3987070single nucleotide variantNM_207015.3(NAALADL2):c.1930G>A (p.Glu644Lys)not specified [RCV005376624]uncertain significance3175737339175737339Humanname
598204597CV3987071single nucleotide variantNM_207015.3(NAALADL2):c.2026G>A (p.Ala676Thr)not specified [RCV005376625]uncertain significance3175755255175755255Humanname
598204611CV3987073single nucleotide variantNM_207015.3(NAALADL2):c.2065G>C (p.Asp689His)not specified [RCV005376627]uncertain significance3175755294175755294Humanname
15167244CV708690single nucleotide variantNM_207015.3(NAALADL2):c.1587T>G (p.Ser529Arg)not provided [RCV000971359]benign3175471692175471692Humanname
127241147CV976817indelNM_207015.3(NAALADL2):c.1534-11_1534-10delinsADevelopmental cataract [RCV001376653]likely benign3175471628175471629Humanname