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)


75 records found for search term Ap2a1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156302206CV2311793single nucleotide variantNM_130787.3(AP2A1):c.2115-393G>Anot specified [RCV004170648]uncertain significance194980255649802556Humanname
156086711CV2341075single nucleotide variantNM_130787.3(AP2A1):c.2115-384A>Gnot specified [RCV004181556]uncertain significance194980256549802565Humanname
155984010CV2344371single nucleotide variantNM_130787.3(AP2A1):c.2115-395C>Anot specified [RCV004195124]uncertain significance194980255449802554Humanname
156073988CV2376941single nucleotide variantNM_130787.3(AP2A1):c.2115-363G>Anot specified [RCV004229629]uncertain significance194980258649802586Humanname
401752466CV2682829single nucleotide variantNM_130787.3(AP2A1):c.2115-383T>Cnot specified [RCV004281798]uncertain significance194980256649802566Humanname
407515887CV3469223single nucleotide variantNM_130787.3(AP2A1):c.2114+393C>Tnot specified [RCV004650064]likely benign194980253449802534Humanname
598190563CV3994159single nucleotide variantNM_130787.3(AP2A1):c.2115-383T>Gnot specified [RCV005374061]uncertain significance194980256649802566Humanname
15189797CV742064single nucleotide variantNM_130787.3(AP2A1):c.2115-388C>Tnot provided [RCV000909759]benign194980256149802561Humanname
8636940CV92165single nucleotide variantNM_014203.2(AP2A1):c.2115-104C>TMalignant melanoma [RCV000072263]not provided194980243049802430Humanname
156002517CV2288057single nucleotide variantNM_130787.3(AP2A1):c.257A>G (p.Asn86Ser)not specified [RCV004147811]uncertain significance194978206749782067Humanname
405697701CV3279013single nucleotide variantNM_130787.3(AP2A1):c.1554C>T (p.Ser518=)not specified [RCV004424834]likely benign194980139049801390Humanname
598190580CV3994164single nucleotide variantNM_130787.3(AP2A1):c.214A>G (p.Ile72Val)not specified [RCV005374064]uncertain significance194978202449782024Humanname
15124278CV716608single nucleotide variantNM_130787.3(AP2A1):c.1095C>T (p.Ala365=)not provided [RCV000963388]benign194979945649799456Humanname
155982354CV2244189single nucleotide variantNM_130787.3(AP2A1):c.959A>G (p.Tyr320Cys)not specified [RCV004108635]uncertain significance194979894649798946Humanname
156082941CV2244438single nucleotide variantNM_130787.3(AP2A1):c.780G>T (p.Lys260Asn)not specified [RCV004100405]uncertain significance194979570449795704Humanname
156034741CV2246583single nucleotide variantNM_130787.3(AP2A1):c.604G>T (p.Gly202Cys)not specified [RCV004110330]uncertain significance194979299149792991Humanname
156201731CV2300574single nucleotide variantNM_130787.3(AP2A1):c.836G>A (p.Arg279Gln)not specified [RCV004155538]uncertain significance194979882349798823Humanname
156273294CV2344103single nucleotide variantNM_130787.3(AP2A1):c.806C>T (p.Pro269Leu)not specified [RCV004195705]uncertain significance194979573049795730Humanname
156401999CV2367803single nucleotide variantNM_130787.3(AP2A1):c.754G>A (p.Val252Ile)not specified [RCV004222918]uncertain significance194979567849795678Humanname
401753961CV2719125single nucleotide variantNM_130787.3(AP2A1):c.614C>T (p.Thr205Met)not specified [RCV004324793]uncertain significance194979300149793001Humanname
401862842CV2755467single nucleotide variantNM_130787.3(AP2A1):c.788G>A (p.Arg263Gln)not specified [RCV004340056]uncertain significance194979571249795712Humanname
401900016CV2780182single nucleotide variantNM_130787.3(AP2A1):c.622G>A (p.Val208Ile)not specified [RCV004355830]uncertain significance194979300949793009Humanname
405697736CV3279019single nucleotide variantNM_130787.3(AP2A1):c.436G>A (p.Ala146Thr)not specified [RCV004424840]uncertain significance194978268749782687Humanname
405697741CV3279020single nucleotide variantNM_130787.3(AP2A1):c.605G>A (p.Gly202Asp)not specified [RCV004424841]uncertain significance194979299249792992Humanname
407510008CV3469197single nucleotide variantNM_130787.3(AP2A1):c.671C>T (p.Thr224Met)not specified [RCV004647570]uncertain significance194979305849793058Humanname
407515866CV3469208single nucleotide variantNM_130787.3(AP2A1):c.445G>A (p.Ala149Thr)not specified [RCV004650055]uncertain significance194978269649782696Humanname
597667464CV3558766single nucleotide variantNM_130787.3(AP2A1):c.779A>T (p.Lys260Met)not specified [RCV004829307]uncertain significance194979570349795703Humanname
597668430CV3558794single nucleotide variantNM_130787.3(AP2A1):c.808C>A (p.Pro270Thr)not specified [RCV004829335]uncertain significance194979573249795732Humanname
598273679CV3994113single nucleotide variantNM_130787.3(AP2A1):c.543C>G (p.Asp181Glu)not specified [RCV005389773]uncertain significance194979200449792004Humanname
598190491CV3994148single nucleotide variantNM_130787.3(AP2A1):c.676G>A (p.Val226Ile)not specified [RCV005374051]likely benign194979306349793063Humanname
598190626CV3994179single nucleotide variantNM_130787.3(AP2A1):c.571C>T (p.Arg191Cys)not specified [RCV005374072]uncertain significance194979203249792032Humanname
598273735CV3994196single nucleotide variantNM_130787.3(AP2A1):c.835C>T (p.Arg279Trp)not specified [RCV005389806]uncertain significance194979882249798822Humanname
598273739CV3994206single nucleotide variantNM_130787.3(AP2A1):c.974A>G (p.Asn325Ser)not specified [RCV005389810]uncertain significance194979933549799335Humanname
156079382CV2198381single nucleotide variantNM_130787.3(AP2A1):c.1921A>G (p.Asn641Asp)not specified [RCV004081921]uncertain significance194980185749801857Humanname
156061335CV2263122single nucleotide variantNM_130787.3(AP2A1):c.2014C>T (p.Pro672Ser)not specified [RCV004131363]uncertain significance194980204149802041Humanname
155950314CV2267832single nucleotide variantNM_130787.3(AP2A1):c.2157T>G (p.Asp719Glu)not specified [RCV004136137]uncertain significance194980299149802991Humanname
156000829CV2287430single nucleotide variantNM_130787.3(AP2A1):c.1691G>A (p.Arg564Gln)not specified [RCV004147028]uncertain significance194980152749801527Humanname
156293447CV2306325single nucleotide variantNM_130787.3(AP2A1):c.1948A>G (p.Thr650Ala)not specified [RCV004163038]uncertain significance194980188449801884Humanname
156039651CV2313754single nucleotide variantNM_130787.3(AP2A1):c.2327C>T (p.Pro776Leu)not specified [RCV004157664]uncertain significance194980335949803359Humanname
156352733CV2324033single nucleotide variantNM_130787.3(AP2A1):c.2077C>T (p.Pro693Ser)not specified [RCV004178334]uncertain significance194980210449802104Humanname
155922197CV2350788single nucleotide variantNM_130787.3(AP2A1):c.2584C>T (p.Leu862Phe)not specified [RCV004207123]uncertain significance194980577649805776Humanname
155993038CV2379372single nucleotide variantNM_130787.3(AP2A1):c.2834G>A (p.Arg945His)not specified [RCV004223829]uncertain significance194980672449806724Humanname
156389636CV2380697single nucleotide variantNM_130787.3(AP2A1):c.1157G>A (p.Arg386Gln)not specified [RCV004218277]uncertain significance194979965149799651Humanname
329371237CV2431929single nucleotide variantNM_130787.3(AP2A1):c.2132T>G (p.Ile711Ser)not specified [RCV004249088]uncertain significance194980296649802966Humanname
329378863CV2460006single nucleotide variantNM_130787.3(AP2A1):c.2103G>T (p.Glu701Asp)not specified [RCV004279479]uncertain significance194980213049802130Humanname
329370812CV2461819single nucleotide variantNM_130787.3(AP2A1):c.2122C>T (p.Pro708Ser)not specified [RCV004271739]uncertain significance194980295649802956Humanname
329399278CV2470022single nucleotide variantNM_130787.3(AP2A1):c.1220C>T (p.Ser407Leu)not specified [RCV004287297]uncertain significance194979971449799714Humanname
401720083CV2675769single nucleotide variantNM_130787.3(AP2A1):c.1243A>G (p.Thr415Ala)not specified [RCV004288011]uncertain significance194979973749799737Humanname
401744952CV2681158single nucleotide variantNM_130787.3(AP2A1):c.2063G>T (p.Gly688Val)not specified [RCV004296210]uncertain significance194980209049802090Humanname
401778120CV2700625single nucleotide variantNM_130787.3(AP2A1):c.1898G>C (p.Arg633Thr)not specified [RCV004313355]uncertain significance194980183449801834Humanname
401865269CV2768742single nucleotide variantNM_130787.3(AP2A1):c.1468C>T (p.Pro490Ser)not specified [RCV004346582]uncertain significance194980097349800973Humanname
401876312CV2789352single nucleotide variantNM_130787.3(AP2A1):c.1741G>A (p.Val581Met)not specified [RCV004365370]uncertain significance194980157749801577Humanname
405697695CV3279012single nucleotide variantNM_130787.3(AP2A1):c.1064C>T (p.Thr355Met)not specified [RCV004424833]uncertain significance194979942549799425Humanname
405697706CV3279014single nucleotide variantNM_130787.3(AP2A1):c.2038A>G (p.Asn680Asp)not specified [RCV004424835]uncertain significance194980206549802065Humanname
405697713CV3279015single nucleotide variantNM_130787.3(AP2A1):c.2050G>A (p.Asp684Asn)not specified [RCV004424836]uncertain significance194980207749802077Humanname
405697718CV3279016single nucleotide variantNM_130787.3(AP2A1):c.2141C>T (p.Pro714Leu)not specified [RCV004424837]uncertain significance194980297549802975Humanname
405697723CV3279017single nucleotide variantNM_130787.3(AP2A1):c.2480C>T (p.Ala827Val)not specified [RCV004424838]uncertain significance194980567249805672Humanname
405697730CV3279018single nucleotide variantNM_130787.3(AP2A1):c.2512A>T (p.Thr838Ser)not specified [RCV004424839]uncertain significance194980570449805704Humanname
407515875CV3469214single nucleotide variantNM_130787.3(AP2A1):c.2549C>A (p.Ala850Asp)not specified [RCV004650058]uncertain significance194980574149805741Humanname
407515877CV3469215single nucleotide variantNM_130787.3(AP2A1):c.2098G>A (p.Glu700Lys)not specified [RCV004650059]uncertain significance194980212549802125Humanname
407515883CV3469218single nucleotide variantNM_130787.3(AP2A1):c.2386G>C (p.Gly796Arg)not specified [RCV004650062]uncertain significance194980549449805494Humanname
407498254CV3469221single nucleotide variantNM_130787.3(AP2A1):c.2335C>T (p.Leu779Phe)not specified [RCV004643955]uncertain significance194980336749803367Humanname
597666881CV3558711single nucleotide variantNM_130787.3(AP2A1):c.1895G>A (p.Arg632Gln)not specified [RCV004829252]uncertain significance194980183149801831Humanname
597666958CV3558722single nucleotide variantNM_130787.3(AP2A1):c.1187T>C (p.Met396Thr)not specified [RCV004829263]uncertain significance194979968149799681Humanname
597667207CV3558733single nucleotide variantNM_130787.3(AP2A1):c.1083C>G (p.Phe361Leu)not specified [RCV004829274]uncertain significance194979944449799444Humanname
597667287CV3558744single nucleotide variantNM_130787.3(AP2A1):c.2327C>G (p.Pro776Arg)not specified [RCV004829285]uncertain significance194980335949803359Humanname
597667370CV3558755single nucleotide variantNM_130787.3(AP2A1):c.2402A>C (p.Gln801Pro)not specified [RCV004829296]uncertain significance194980551049805510Humanname
597667555CV3558777single nucleotide variantNM_130787.3(AP2A1):c.2202C>A (p.Phe734Leu)not specified [RCV004829318]uncertain significance194980313749803137Humanname
597668480CV3558788single nucleotide variantNM_130787.3(AP2A1):c.1958C>T (p.Thr653Met)not specified [RCV004829329]uncertain significance194980198549801985Humanname
598190375CV3994120single nucleotide variantNM_130787.3(AP2A1):c.1423G>A (p.Val475Ile)not specified [RCV005374035]uncertain significance194980011849800118Humanname
598190439CV3994130single nucleotide variantNM_130787.3(AP2A1):c.1136C>T (p.Thr379Met)not specified [RCV005374043]uncertain significance194979963049799630Humanname
598273702CV3994137single nucleotide variantNM_130787.3(AP2A1):c.2309C>T (p.Ser770Leu)not specified [RCV005389783]uncertain significance194980334149803341Humanname
598190545CV3994155single nucleotide variantNM_130787.3(AP2A1):c.2082C>G (p.Ser694Arg)not specified [RCV005374058]uncertain significance194980210949802109Humanname
598190592CV3994170single nucleotide variantNM_130787.3(AP2A1):c.1188G>A (p.Met396Ile)not specified [RCV005374066]uncertain significance194979968249799682Humanname
598190658CV3994186single nucleotide variantNM_130787.3(AP2A1):c.1087C>A (p.His363Asn)not specified [RCV005374077]uncertain significance194979944849799448Humanname