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


51 records found for search term Neil1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15175859CV779714single nucleotide variantNM_024608.4(NEIL1):c.434+2T>Cnot provided [RCV000973049]benign|likely benign157534934175349341Humanname
150532472CV1306753single nucleotide variantNM_024608.4(NEIL1):c.434+34G>Anot provided [RCV001757751]likely benign157534937375349373Humanname
150516472CV1227081single nucleotide variantNM_024608.4(NEIL1):c.-22-656A>Gnot provided [RCV001639179]benign157534822875348228Humanname
150446524CV1261376single nucleotide variantNM_024608.4(NEIL1):c.-23+263G>Anot provided [RCV001680050]benign157534773675347736Humanname
150471453CV1270079single nucleotide variantNM_024608.4(NEIL1):c.-23+609C>Tnot provided [RCV001695367]benign157534808275348082Humanname
150552582CV1306411single nucleotide variantNM_024608.4(NEIL1):c.-22-639C>Tnot provided [RCV001768033]likely benign157534824575348245Humanname
150532470CV1306752single nucleotide variantNM_024608.4(NEIL1):c.-23+315G>Anot provided [RCV001757750]likely benign157534778875347788Humanname
405295307CV3211236microsatelliteNM_024608.4(NEIL1):c.619-22CCTGCC[3]NEIL1-related disorder [RCV003937212]likely benign157535257975352580Humanname , trait , alternate_id
150463165CV1273114deletionNM_024608.4(NEIL1):c.719-114_719-113delnot provided [RCV001693871]benign157535362575353626Humanname
405272310CV3199270duplicationNM_024608.4(NEIL1):c.435-819_435-818dupNEIL1-related disorder [RCV003914220]benign157535127475351275Humanname , trait , alternate_id
405286911CV3213829single nucleotide variantNM_024608.4(NEIL1):c.921T>G (p.Pro307=)NEIL1-related disorder [RCV003924225]likely benign157535447775354477Humanname , trait , alternate_id
405290000CV3214012single nucleotide variantNM_024608.4(NEIL1):c.753G>A (p.Glu251=)NEIL1-related disorder [RCV003926859]likely benign157535377375353773Humanname , trait , alternate_id
405271384CV3219057single nucleotide variantNM_024608.4(NEIL1):c.990C>T (p.Asp330=)NEIL1-related disorder [RCV003971772]likely benign157535470675354706Humanname , trait , alternate_id
156028678CV2195866single nucleotide variantNM_024608.4(NEIL1):c.274G>A (p.Glu92Lys)not specified [RCV004076205]uncertain significance157534917975349179Humanname
156278691CV2297503single nucleotide variantNM_024608.4(NEIL1):c.154C>G (p.Arg52Gly)not specified [RCV004153430]uncertain significance157534905975349059Humanname
156107071CV2387116single nucleotide variantNM_024608.4(NEIL1):c.274G>C (p.Glu92Gln)not specified [RCV004226851]uncertain significance157534917975349179Humanname
156107088CV2387117single nucleotide variantNM_024608.4(NEIL1):c.275A>T (p.Glu92Val)not specified [RCV004226852]uncertain significance157534918075349180Humanname
401864796CV2791364single nucleotide variantNM_024608.4(NEIL1):c.210G>C (p.Gln70His)not specified [RCV004358770]uncertain significance157534911575349115Humanname
597670456CV3555869single nucleotide variantNM_024608.4(NEIL1):c.106C>T (p.Pro36Ser)not specified [RCV004829708]uncertain significance157534901175349011Humanname
597670464CV3555870single nucleotide variantNM_024608.4(NEIL1):c.226G>A (p.Val76Ile)not specified [RCV004829709]uncertain significance157534913175349131Humanname
13835443CV586702duplicationNM_024608.4(NEIL1):c.314dup (p.Pro106fs)not provided [RCV000731248]conflicting interpretations of pathogenicity|uncertain significance157534921575349216Humanname
15176326CV703341single nucleotide variantNM_024608.4(NEIL1):c.146C>G (p.Ala49Gly)not provided [RCV000950799]benign|likely benign157534905175349051Humanname
15129929CV714609single nucleotide variantNM_024608.4(NEIL1):c.203C>A (p.Pro68His)not provided [RCV000964345]benign157534910875349108Humanname
156138124CV2236595single nucleotide variantNM_024608.4(NEIL1):c.580G>A (p.Ala194Thr)not specified [RCV004110580]uncertain significance157535234975352349Humanname
155978445CV2247053single nucleotide variantNM_024608.4(NEIL1):c.764C>A (p.Ala255Asp)not specified [RCV004114606]uncertain significance157535378475353784Humanname
155906196CV2283401single nucleotide variantNM_024608.4(NEIL1):c.449G>A (p.Arg150Gln)not specified [RCV004139630]uncertain significance157535212575352125Humanname
155931329CV2297341single nucleotide variantNM_024608.4(NEIL1):c.838T>G (p.Trp280Gly)not specified [RCV004152998]uncertain significance157535385875353858Humanname
156362115CV2323035single nucleotide variantNM_024608.4(NEIL1):c.688C>T (p.His230Tyr)not specified [RCV004185459]uncertain significance157535267175352671Humanname
156261636CV2381401single nucleotide variantNM_024608.4(NEIL1):c.356G>A (p.Arg119Gln)not specified [RCV004227449]uncertain significance157534926175349261Humanname
156259188CV2383977single nucleotide variantNM_024608.4(NEIL1):c.887G>A (p.Arg296His)not specified [RCV004224954]uncertain significance157535444375354443Humanname
156098446CV2385066single nucleotide variantNM_024608.4(NEIL1):c.553C>T (p.Arg185Trp)not specified [RCV004228331]uncertain significance157535222975352229Humanname
329400406CV2441631single nucleotide variantNM_024608.4(NEIL1):c.821G>A (p.Arg274Gln)not specified [RCV004259455]uncertain significance157535384175353841Humanname
405272486CV3210048single nucleotide variantNM_024608.4(NEIL1):c.967A>G (p.Arg323Gly)NEIL1-related disorder [RCV003914299]likely benign157535468375354683Humanname , trait , alternate_id
405291450CV3219216single nucleotide variantNM_024608.4(NEIL1):c.733G>A (p.Gly245Arg)NEIL1-related disorder [RCV003963857]likely benign157535375375353753Humanname , trait , alternate_id
405667319CV3359753single nucleotide variantNM_024608.4(NEIL1):c.313C>T (p.Pro105Ser)not specified [RCV004485751]uncertain significance157534921875349218Humanname
405667362CV3359761single nucleotide variantNM_024608.4(NEIL1):c.728G>A (p.Gly243Asp)not specified [RCV004485759]uncertain significance157535374875353748Humanname
405667379CV3359764single nucleotide variantNM_024608.4(NEIL1):c.959C>A (p.Ala320Asp)not specified [RCV004485762]uncertain significance157535467575354675Humanname
407526178CV3454829single nucleotide variantNM_024608.4(NEIL1):c.969G>T (p.Arg323Ser)not specified [RCV004654718]uncertain significance157535468575354685Humanname
407489479CV3454830single nucleotide variantNM_024608.4(NEIL1):c.364C>T (p.Arg122Cys)not specified [RCV004641475]uncertain significance157534926975349269Humanname
407526181CV3454831single nucleotide variantNM_024608.4(NEIL1):c.899C>G (p.Ser300Cys)not specified [RCV004654719]uncertain significance157535445575354455Humanname
597670427CV3555866single nucleotide variantNM_024608.4(NEIL1):c.820C>T (p.Arg274Trp)not specified [RCV004829705]uncertain significance157535384075353840Humanname
597670435CV3555867single nucleotide variantNM_024608.4(NEIL1):c.583C>T (p.Arg195Cys)not specified [RCV004829706]uncertain significance157535235275352352Humanname
597670471CV3555871single nucleotide variantNM_024608.4(NEIL1):c.799G>A (p.Gly267Ser)not specified [RCV004829710]uncertain significance157535381975353819Humanname
598231588CV3990662single nucleotide variantNM_024608.4(NEIL1):c.584G>A (p.Arg195His)not specified [RCV005381395]uncertain significance157535235375352353Humanname
598254250CV3990663single nucleotide variantNM_024608.4(NEIL1):c.926A>G (p.Asp309Gly)not specified [RCV005385473]uncertain significance157535448275354482Humanname
15110290CV714610single nucleotide variantNM_024608.4(NEIL1):c.754G>A (p.Asp252Asn)not provided [RCV000960870]benign|likely benign157535377475353774Humanname
15144260CV739779single nucleotide variantNM_024608.4(NEIL1):c.546C>G (p.Ile182Met)not provided [RCV000899973]benign157535222275352222Humanname
405667242CV3359737single nucleotide variantNM_024608.4(NEIL1):c.1037A>G (p.Gln346Arg)not specified [RCV004485735]uncertain significance157535475375354753Humanname
597670446CV3555868single nucleotide variantNM_024608.4(NEIL1):c.1118G>A (p.Arg373Gln)not specified [RCV004829707]likely benign157535497975354979Humanname
598231576CV3990660single nucleotide variantNM_024608.4(NEIL1):c.1153G>A (p.Glu385Lys)not specified [RCV005381393]uncertain significance157535501475355014Humanname
598231582CV3990661single nucleotide variantNM_024608.4(NEIL1):c.1117C>G (p.Arg373Gly)not specified [RCV005381394]uncertain significance157535497875354978Humanname