Send us a Message



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


50 records found for search term Nol3
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405279260CV3217446single nucleotide variantNM_001276309.3(NOL3):c.-4G>TNOL3-related disorder [RCV003976858]likely benign166717416667174166Humanname , trait , alternate_id
405286195CV3218745single nucleotide variantNM_001276309.3(NOL3):c.*50G>ANOL3-related disorder [RCV003959461]benign166717510467175104Humanname , trait , alternate_id
405293136CV3221292single nucleotide variantNM_001276309.3(NOL3):c.*22G>TNOL3-related disorder [RCV003966814]likely benign166717507667175076Humanname , trait , alternate_id
401924748CV2805102single nucleotide variantNM_001276309.3(NOL3):c.-8-14C>Tnot specified [RCV003404921]likely benign166717414867174148Humanname
401963631CV2843212single nucleotide variantNM_001276309.3(NOL3):c.-8-158C>Tnot specified [RCV003479554]uncertain significance166717400467174004Humanname
405285938CV3221625single nucleotide variantNM_001276309.3(NOL3):c.-8-132C>TNOL3-related disorder [RCV003981335]benign166717403067174030Human1name , trait , alternate_id
405285938CV3221625single nucleotide variantNM_001276309.3(NOL3):c.-8-132C>TNOL3-related disorder [RCV003981335]benign166717403067174031Human1name , trait , alternate_id
126739628CV1021497deletionNM_003946.6(NOL3):c.449del (p.Pro150fs)Myoclonus, familial 1 [RCV001335801]pathogenic166717477167174771Humanname
405289593CV3205205single nucleotide variantNM_001276309.3(NOL3):c.75G>A (p.Ala25=)NOL3-related disorder [RCV003961794]benign166717424467174244Humanname , trait , alternate_id
405853311CV3392640single nucleotide variantNM_001276309.3(NOL3):c.30G>A (p.Glu10=)not specified [RCV004526364]likely benign166717419967174199Humanname
401864564CV2760957single nucleotide variantNM_001276309.3(NOL3):c.297C>A (p.Gly99=)not specified [RCV004336589]uncertain significance166717462267174622Humanname
156231209CV2348746single nucleotide variantNM_001276309.3(NOL3):c.95A>G (p.Asp32Gly)not specified [RCV004201153]uncertain significance166717426467174264Humanname
401722149CV2706399single nucleotide variantNM_001276309.3(NOL3):c.453G>A (p.Glu151=)not specified [RCV004317236]uncertain significance166717477867174778Humanname
401721494CV2709987single nucleotide variantNM_001276309.3(NOL3):c.333C>A (p.Gly111=)not specified [RCV004315053]uncertain significance166717465867174658Humanname
401750402CV2715629single nucleotide variantNM_001276309.3(NOL3):c.585C>T (p.Pro195=)not specified [RCV004327012]uncertain significance166717491067174910Humanname
401871931CV2783638single nucleotide variantNM_001276309.3(NOL3):c.483C>T (p.Ala161=)not specified [RCV004360285]uncertain significance166717480867174808Humanname
405165276CV2960734single nucleotide variantNM_001276309.3(NOL3):c.68T>C (p.Leu23Pro)not provided [RCV003674983]uncertain significance166717423767174237Humanname
405271523CV3209413single nucleotide variantNM_001276309.3(NOL3):c.76G>T (p.Asp26Tyr)NOL3-related disorder [RCV003949740]likely benign166717424567174245Humanname , trait , alternate_id
405273534CV3213966single nucleotide variantNM_001276309.3(NOL3):c.408C>G (p.Ala136=)NOL3-related disorder [RCV003914741]likely benign166717473367174733Humanname , trait , alternate_id
405677336CV3355467single nucleotide variantNM_001276309.3(NOL3):c.615C>T (p.Ser205=)not specified [RCV004487917]likely benign166717494067174940Humanname
405677340CV3355468single nucleotide variantNM_001276309.3(NOL3):c.95A>T (p.Asp32Val)not specified [RCV004487918]uncertain significance166717426467174264Humanname
597671822CV3563023single nucleotide variantNM_001276309.3(NOL3):c.360G>C (p.Ser120=)not specified [RCV004829873]uncertain significance166717468567174685Humanname
597671832CV3563024single nucleotide variantNM_001276309.3(NOL3):c.501G>A (p.Pro167=)not specified [RCV004829874]uncertain significance166717482667174826Humanname
597671848CV3563026single nucleotide variantNM_001276309.3(NOL3):c.360G>A (p.Ser120=)not specified [RCV004829876]likely benign166717468567174685Humanname
598206730CV4004510single nucleotide variantNM_001276309.3(NOL3):c.507G>A (p.Pro169=)not specified [RCV005376979]uncertain significance166717483267174832Humanname
598240019CV4004511single nucleotide variantNM_001276309.3(NOL3):c.432G>A (p.Ala144=)not specified [RCV005383030]likely benign166717475767174757Humanname
8604378CV48402single nucleotide variantNM_001276309.3(NOL3):c.61G>C (p.Glu21Gln)Myoclonus, familial, 1 [RCV000033024]pathogenic|uncertain significance166717423067174230Human1name
15166082CV726734single nucleotide variantNM_001276309.3(NOL3):c.342G>C (p.Thr114=)not provided [RCV000882553]|not specified [RCV004028317]likely benign|uncertain significance166717466767174667Humanname
21075406CV797353single nucleotide variantNM_001276309.3(NOL3):c.555G>A (p.Pro185=)not provided [RCV000996284]uncertain significance166717488067174880Humanname
126739635CV1021498duplicationNM_001276309.3(NOL3):c.489dup (p.Glu164fs)Myoclonus, familial [RCV005362263]pathogenic|uncertain significance166717481167174812Human1name
156184225CV2349912single nucleotide variantNM_001276309.3(NOL3):c.182T>C (p.Leu61Pro)not specified [RCV004206327]uncertain significance166717435167174351Humanname
401722891CV2703533single nucleotide variantNM_001276309.3(NOL3):c.154C>A (p.Pro52Thr)not specified [RCV004317707]uncertain significance166717432367174323Humanname
401867534CV2748986single nucleotide variantNM_001276309.3(NOL3):c.199G>A (p.Gly67Ser)not specified [RCV003331810]uncertain significance166717436867174368Humanname
405654804CV3228341single nucleotide variantNM_001276309.3(NOL3):c.227T>A (p.Leu76Gln)not specified [RCV003995076]uncertain significance166717439667174396Humanname
407498038CV3469056single nucleotide variantNM_001276309.3(NOL3):c.179G>A (p.Arg60His)not specified [RCV004643901]uncertain significance166717434867174348Humanname
598206736CV4004513single nucleotide variantNM_001276309.3(NOL3):c.113G>A (p.Gly38Asp)not specified [RCV005376980]uncertain significance166717428267174282Humanname
126739623CV1021496single nucleotide variantNM_001276309.3(NOL3):c.383C>A (p.Pro128His)Myoclonus, familial, 1 [RCV001335800]uncertain significance166717470867174708Human1name
155978716CV2215082single nucleotide variantNM_001276309.3(NOL3):c.609C>A (p.Asp203Glu)not specified [RCV004084850]uncertain significance166717493467174934Humanname
156139507CV2246875single nucleotide variantNM_001276309.3(NOL3):c.350C>T (p.Ala117Val)not specified [RCV004112680]uncertain significance166717467567174675Humanname
401908882CV2803610single nucleotide variantNM_001276309.3(NOL3):c.547C>T (p.Pro183Ser)NOL3-related disorder [RCV003397715]uncertain significance166717487267174872Humanname , trait , alternate_id
405677332CV3355466single nucleotide variantNM_001276309.3(NOL3):c.527A>G (p.Glu176Gly)not specified [RCV004487916]uncertain significance166717485267174852Humanname
407509629CV3469055single nucleotide variantNM_001276309.3(NOL3):c.540A>C (p.Glu180Asp)not specified [RCV004647473]uncertain significance166717486567174865Humanname
407509633CV3469057single nucleotide variantNM_001276309.3(NOL3):c.475G>A (p.Ala159Thr)not specified [RCV004647474]likely benign166717480067174800Humanname
407509636CV3469058single nucleotide variantNM_001276309.3(NOL3):c.430G>A (p.Ala144Thr)not specified [RCV004647475]likely benign166717475567174755Humanname
407509640CV3469059single nucleotide variantNM_001276309.3(NOL3):c.431C>A (p.Ala144Glu)not specified [RCV004647476]likely benign166717475667174756Humanname
597671839CV3563025single nucleotide variantNM_001276309.3(NOL3):c.514G>A (p.Glu172Lys)not specified [RCV004829875]likely benign166717483967174839Humanname
597671859CV3563027single nucleotide variantNM_001276309.3(NOL3):c.386G>A (p.Arg129Lys)not specified [RCV004829877]uncertain significance166717471167174711Humanname
598240027CV4004512single nucleotide variantNM_001276309.3(NOL3):c.553C>T (p.Pro185Ser)not specified [RCV005383031]likely benign166717487867174878Humanname
15197608CV726733single nucleotide variantNM_001276309.3(NOL3):c.331G>A (p.Gly111Ser)not provided [RCV000890108]likely benign166717465667174656Humanname
155796290CV1861769deletionNM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del)not specified [RCV002470051]uncertain significance166717477867174831Humanname