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41 records found for search term Ppp2r3c
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151233983CV1317952single nucleotide variantNM_017917.4(PPP2R3C):c.-9A>GGonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV001789587]|PPP2R3C-related disorder [RCV003984106]|Spermatogenic failure 36 [RCV001789588]|not provided [RCV004715552]benign143512196835121968Human2name , trait , alternate_id
405293019CV3207121duplicationNM_017917.4(PPP2R3C):c.1174-10dupPPP2R3C-related disorder [RCV003931531]benign143508578735085788Humanname , trait , alternate_id
401857862CV2773727single nucleotide variantNM_017917.4(PPP2R3C):c.38C>T (p.Thr13Met)not specified [RCV004356400]uncertain significance143512192235121922Humanname
156174226CV2247657single nucleotide variantNM_017917.4(PPP2R3C):c.119C>T (p.Ser40Phe)not specified [RCV004115073]uncertain significance143511667735116677Humanname
156081902CV2384800single nucleotide variantNM_017917.4(PPP2R3C):c.121G>A (p.Glu41Lys)not specified [RCV004232562]uncertain significance143511667535116675Humanname
405272266CV3199250single nucleotide variantNM_017917.4(PPP2R3C):c.173G>A (p.Arg58Gln)PPP2R3C-related disorder [RCV003914201]likely benign143511662335116623Humanname , trait , alternate_id
407574394CV3499399deletionNM_017917.4(PPP2R3C):c.841del (p.Gln281fs)Spermatogenic failure 36 [RCV004719060]uncertain significance143509518235095182Human1name
597769493CV3587945single nucleotide variantNM_017917.4(PPP2R3C):c.276T>A (p.Asp92Glu)not specified [RCV004850936]uncertain significance143511054035110540Humanname
597769496CV3587946single nucleotide variantNM_017917.4(PPP2R3C):c.152A>C (p.Glu51Ala)not specified [RCV004850937]uncertain significance143511664435116644Humanname
597769521CV3587951single nucleotide variantNM_017917.4(PPP2R3C):c.112T>C (p.Tyr38His)not specified [RCV004850942]uncertain significance143511668435116684Humanname
156326401CV2205741single nucleotide variantNM_017917.4(PPP2R3C):c.856G>A (p.Asp286Asn)not specified [RCV004075793]uncertain significance143509516735095167Humanname
156338485CV2224947single nucleotide variantNM_017917.4(PPP2R3C):c.779T>C (p.Leu260Pro)not specified [RCV004094797]uncertain significance143509661735096617Humanname
156069342CV2232196single nucleotide variantNM_017917.4(PPP2R3C):c.859A>G (p.Lys287Glu)not specified [RCV004104993]uncertain significance143509516435095164Humanname
156052183CV2320283single nucleotide variantNM_017917.4(PPP2R3C):c.938G>A (p.Arg313His)not specified [RCV004178451]uncertain significance143509508535095085Humanname
329383298CV2434495single nucleotide variantNM_017917.4(PPP2R3C):c.678C>G (p.Phe226Leu)not specified [RCV004254202]uncertain significance143509928035099280Humanname
401760961CV2706161single nucleotide variantNM_017917.4(PPP2R3C):c.320A>G (p.Gln107Arg)not specified [RCV004314840]uncertain significance143510990335109903Humanname
405653119CV3377064single nucleotide variantNM_017917.4(PPP2R3C):c.376G>A (p.Val126Ile)not specified [RCV004510099]uncertain significance143510984735109847Humanname
405653121CV3377065single nucleotide variantNM_017917.4(PPP2R3C):c.799A>G (p.Thr267Ala)not specified [RCV004510100]uncertain significance143509659735096597Humanname
405653123CV3377066single nucleotide variantNM_017917.4(PPP2R3C):c.806G>C (p.Trp269Ser)not specified [RCV004510101]uncertain significance143509659035096590Humanname
405653125CV3377067single nucleotide variantNM_017917.4(PPP2R3C):c.905G>C (p.Gly302Ala)not specified [RCV004510102]uncertain significance143509511835095118Humanname
405653126CV3377068single nucleotide variantNM_017917.4(PPP2R3C):c.920C>T (p.Thr307Ile)not specified [RCV004510103]uncertain significance143509510335095103Humanname
597769507CV3587948single nucleotide variantNM_017917.4(PPP2R3C):c.853C>G (p.Leu285Val)not specified [RCV004850939]uncertain significance143509517035095170Humanname
597769512CV3587949single nucleotide variantNM_017917.4(PPP2R3C):c.341A>G (p.Glu114Gly)not specified [RCV004850940]uncertain significance143510988235109882Humanname
597769524CV3587952single nucleotide variantNM_017917.4(PPP2R3C):c.589A>G (p.Ile197Val)not specified [RCV004850943]uncertain significance143509936935099369Humanname
14690728CV615779single nucleotide variantNM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV000770797]|Spermatogenic failure 36 [RCV000770798]pathogenic143509938035099380Human2name
14690731CV615780single nucleotide variantNM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV000770799]|Spermatogenic failure 36 [RCV000770800]pathogenic143510991535109915Human2name
155265938CV1696108single nucleotide variantNM_017917.4(PPP2R3C):c.1250G>A (p.Gly417Glu)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV002280804]pathogenic143508570235085702Human1name
156242228CV2262036single nucleotide variantNM_017917.4(PPP2R3C):c.1279T>A (p.Leu427Met)not specified [RCV004126517]uncertain significance143508567335085673Humanname
156005077CV2401053single nucleotide variantNM_017917.4(PPP2R3C):c.1132A>G (p.Lys378Glu)not specified [RCV004244326]uncertain significance143508799235087992Humanname
401763729CV2717103single nucleotide variantNM_017917.4(PPP2R3C):c.1347C>A (p.Asp449Glu)not specified [RCV004330120]uncertain significance143508560535085605Humanname
401752426CV2723232single nucleotide variantNM_017917.4(PPP2R3C):c.1238A>G (p.Asn413Ser)not specified [RCV004329468]uncertain significance143508571435085714Humanname
401884589CV2755907single nucleotide variantNM_017917.4(PPP2R3C):c.1087G>A (p.Val363Ile)not specified [RCV004335996]uncertain significance143509109635091096Humanname
407464613CV3467818single nucleotide variantNM_017917.4(PPP2R3C):c.1157C>T (p.Ser386Leu)not specified [RCV004659996]uncertain significance143508796735087967Humanname
597769484CV3587943single nucleotide variantNM_017917.4(PPP2R3C):c.1031C>T (p.Ala344Val)not specified [RCV004850934]uncertain significance143509115235091152Humanname
597769489CV3587944single nucleotide variantNM_017917.4(PPP2R3C):c.1120C>A (p.Gln374Lys)not specified [RCV004850935]uncertain significance143508800435088004Humanname
597769501CV3587947single nucleotide variantNM_017917.4(PPP2R3C):c.1325A>G (p.Asn442Ser)not specified [RCV004850938]uncertain significance143508562735085627Humanname
14692844CV615778single nucleotide variantNM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV000770795]|Spermatogenic failure 36 [RCV000770796]pathogenic143509113435091134Human2name
155265937CV1696107microsatelliteNM_017917.4(PPP2R3C):c.678CTT[2] (p.Phe229del)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV002280803]pathogenic143509927235099274Humanname
401918890CV2794692deletionNM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)not specified [RCV003388366]uncertain significance143509675735096758Humanname
401946650CV2831683microsatelliteNM_017917.4(PPP2R3C):c.1310_1311dup (p.Ala438fs)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV003445348]uncertain significance143508564035085641Humanname
155265936CV1696106duplicationNM_017917.4(PPP2R3C):c.639_647dup (p.Tyr218_Val219insSerPheTyr)Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy [RCV002280802]pathogenic143509931035099311Human1name