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Pathways
Variants search result for Homo sapiens
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28 records found for search term Aim2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15112513CV778739single nucleotide variantNM_004833.3(AIM2):c.396+6A>Tnot provided [RCV000961312]benign1159068562159068562Humanname
15195007CV696195single nucleotide variantNM_004833.3(AIM2):c.249G>A (p.Glu83=)not provided [RCV000955802]benign1159073251159073251Humanname
597694571CV3675587single nucleotide variantNM_004833.3(AIM2):c.72G>T (p.Arg24Ser)not specified [RCV004915684]uncertain significance1159073428159073428Humanname
15112508CV706766single nucleotide variantNM_004833.3(AIM2):c.750G>T (p.Pro250=)not provided [RCV000961311]benign1159065976159065976Humanname
15107939CV718294single nucleotide variantNM_004833.3(AIM2):c.795T>C (p.Asn265=)not provided [RCV000893577]benign1159065931159065931Humanname
156190043CV2301693single nucleotide variantNM_004833.3(AIM2):c.136A>G (p.Ile46Val)not specified [RCV004156517]uncertain significance1159073364159073364Humanname
405772515CV3259041single nucleotide variantNM_004833.3(AIM2):c.163A>G (p.Asn55Asp)not specified [RCV004396182]uncertain significance1159073337159073337Humanname
598193348CV3958318single nucleotide variantNM_004833.3(AIM2):c.200G>A (p.Arg67His)not specified [RCV005335168]uncertain significance1159073300159073300Humanname
156280380CV2224140single nucleotide variantNM_004833.3(AIM2):c.689C>T (p.Ala230Val)not specified [RCV004095996]uncertain significance1159066037159066037Humanname
156297384CV2236882single nucleotide variantNM_004833.3(AIM2):c.760A>G (p.Thr254Ala)not specified [RCV004112636]uncertain significance1159065966159065966Humanname
156366455CV2272301single nucleotide variantNM_004833.3(AIM2):c.889A>G (p.Arg297Gly)not specified [RCV004126962]likely benign1159063602159063602Humanname
329393582CV2453448single nucleotide variantNM_004833.3(AIM2):c.932G>A (p.Arg311Gln)not specified [RCV004267052]uncertain significance1159063559159063559Humanname
401742886CV2697889single nucleotide variantNM_004833.3(AIM2):c.548C>T (p.Thr183Ile)not specified [RCV004300600]uncertain significance1159066178159066178Humanname
401737611CV2699861single nucleotide variantNM_004833.3(AIM2):c.632G>T (p.Arg211Ile)not specified [RCV004308502]uncertain significance1159066094159066094Humanname
401771310CV2700995single nucleotide variantNM_004833.3(AIM2):c.349G>T (p.Asp117Tyr)not specified [RCV004307249]uncertain significance1159068615159068615Humanname
401759496CV2712510single nucleotide variantNM_004833.3(AIM2):c.439G>A (p.Glu147Lys)not specified [RCV004307853]uncertain significance1159066287159066287Humanname
401777796CV2718339single nucleotide variantNM_004833.3(AIM2):c.551A>G (p.Glu184Gly)not specified [RCV004318174]uncertain significance1159066175159066175Humanname
401763183CV2720225single nucleotide variantNM_004833.3(AIM2):c.533A>G (p.His178Arg)not specified [RCV004325562]uncertain significance1159066193159066193Humanname
401884660CV2755950single nucleotide variantNM_004833.3(AIM2):c.904A>G (p.Met302Val)not specified [RCV004336037]uncertain significance1159063587159063587Humanname
401861744CV2756472single nucleotide variantNM_004833.3(AIM2):c.581A>G (p.Asn194Ser)not specified [RCV004343003]uncertain significance1159066145159066145Humanname
401889648CV2766788single nucleotide variantNM_004833.3(AIM2):c.950T>A (p.Leu317Gln)not specified [RCV004349176]uncertain significance1159063541159063541Humanname
405292470CV3192507deletionNM_004833.3(AIM2):c.1027del (p.Thr343fs)AIM2-related disorder [RCV003929761]benign1159062697159062697Humanname , trait , alternate_id
405772697CV3259074single nucleotide variantNM_004833.3(AIM2):c.895G>A (p.Glu299Lys)not specified [RCV004396215]uncertain significance1159063596159063596Humanname
407502957CV3435998single nucleotide variantNM_004833.3(AIM2):c.676C>T (p.Arg226Cys)not specified [RCV004623642]likely benign1159066050159066050Humanname
597694558CV3675583single nucleotide variantNM_004833.3(AIM2):c.677G>T (p.Arg226Leu)not specified [RCV004915683]uncertain significance1159066049159066049Humanname
597694582CV3675590single nucleotide variantNM_004833.3(AIM2):c.931C>G (p.Arg311Gly)not specified [RCV004915685]uncertain significance1159063560159063560Humanname
598193401CV3958328single nucleotide variantNM_004833.3(AIM2):c.640C>T (p.Arg214Trp)not specified [RCV005335178]likely benign1159066086159066086Humanname
15172420CV706765single nucleotide variantNM_004833.3(AIM2):c.1030T>G (p.Ter344Glu)AIM2-related disorder [RCV003978373]|Hereditary breast ovarian cancer syndrome [RCV001374519]|not provided [RCV000961310]benign|uncertain significance1159062694159062694Human1name , trait , alternate_id