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33 records found for search term Cd70
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401907204CV2795813single nucleotide variantNM_001252.5(CD70):c.-133G>Tnot specified [RCV003397165]benign1965911356591135Humanname
405294270CV3214726single nucleotide variantNM_001252.5(CD70):c.196+7C>GCD70-related disorder [RCV003934156]likely benign1965900966590096Humanname , trait , alternate_id
404987995CV2849520single nucleotide variantNM_001252.5(CD70):c.162+63T>Cnot specified [RCV003490377]benign1965907786590778Humanname
151356373CV1329137single nucleotide variantNM_001252.5(CD70):c.48G>A (p.Gly16=)CD70-related disorder [RCV003941165]|not provided [RCV003416481]|not specified [RCV001822726]likely benign1965909556590955Human1name , trait , alternate_id
405772485CV3299858single nucleotide variantNM_001252.5(CD70):c.26C>T (p.Ser9Leu)Inborn genetic diseases [RCV004435530]uncertain significance1965909776590977Human1name
598124767CV3885383single nucleotide variantNM_001252.5(CD70):c.156A>G (p.Ser52=)not specified [RCV005239960]likely benign1965908476590847Humanname
401906786CV2795693single nucleotide variantNM_001252.5(CD70):c.345C>T (p.Cys115=)not specified [RCV003397045]benign1965862576586257Humanname
401944536CV2840257single nucleotide variantNM_001252.5(CD70):c.423C>T (p.Ser141=)CD70-related disorder [RCV003939051]|not provided [RCV003457278]benign|likely benign1965861796586179Human1name , trait , alternate_id
405271738CV3209450single nucleotide variantNM_001252.5(CD70):c.477G>A (p.Thr159=)CD70-related disorder [RCV003949770]likely benign1965861256586125Humanname , trait , alternate_id
405772503CV3299861single nucleotide variantNM_001252.5(CD70):c.73C>A (p.Pro25Thr)Inborn genetic diseases [RCV004435533]uncertain significance1965909306590930Human1name
14350051CV590635deletionNM_001252.5(CD70):c.250del (p.Ser84fs)Severe combined immunodeficiency due to CD70 deficiency [RCV000735976]pathogenic1965863526586352Human1name , trait
156161297CV2371409single nucleotide variantNM_001252.5(CD70):c.290G>A (p.Arg97His)Inborn genetic diseases [RCV002698276]uncertain significance1965863126586312Human1name
329384035CV2434944single nucleotide variantNM_001252.5(CD70):c.103G>A (p.Val35Met)Inborn genetic diseases [RCV003188932]uncertain significance1965909006590900Human1name
401757860CV2708002single nucleotide variantNM_001252.5(CD70):c.215G>A (p.Arg72Lys)Inborn genetic diseases [RCV003256193]uncertain significance1965863876586387Human1name
405772475CV3299857single nucleotide variantNM_001252.5(CD70):c.260A>G (p.His87Arg)Inborn genetic diseases [RCV004435529]likely benign1965863426586342Human1name
596926095CV3539735single nucleotide variantNM_001252.5(CD70):c.248G>A (p.Arg83His)not provided [RCV004790726]uncertain significance1965863546586354Humanname
617150083CV4021624deletionNM_001252.5(CD70):c.554del (p.Phe185fs)not provided [RCV005425593]uncertain significance1965860486586048Humanname
156250436CV2199731single nucleotide variantNM_001252.5(CD70):c.388G>A (p.Val130Met)Inborn genetic diseases [RCV002668347]|not provided [RCV004790403]uncertain significance1965862146586214Human1name
156157741CV2235344single nucleotide variantNM_001252.5(CD70):c.511C>T (p.Leu171Phe)Inborn genetic diseases [RCV002787290]uncertain significance1965860916586091Human1name
155924919CV2358235single nucleotide variantNM_001252.5(CD70):c.353C>T (p.Thr118Met)Inborn genetic diseases [RCV002992476]uncertain significance1965862496586249Human1name
401878831CV2770329single nucleotide variantNM_001252.5(CD70):c.497C>T (p.Thr166Ile)Inborn genetic diseases [RCV003384471]uncertain significance1965861056586105Human1name
401895746CV2771011single nucleotide variantNM_001252.5(CD70):c.574C>A (p.Arg192Ser)Inborn genetic diseases [RCV003373233]uncertain significance1965860286586028Human1name
401866374CV2782780single nucleotide variantNM_001252.5(CD70):c.449G>T (p.Gly150Val)Inborn genetic diseases [RCV003379598]uncertain significance1965861536586153Human1name
405772498CV3299860single nucleotide variantNM_001252.5(CD70):c.352A>G (p.Thr118Ala)Inborn genetic diseases [RCV004435532]uncertain significance1965862506586250Human1name
407454696CV3425008single nucleotide variantNM_001252.5(CD70):c.377C>T (p.Thr126Ile)Inborn genetic diseases [RCV004609946]uncertain significance1965862256586225Human1name
407498847CV3425009single nucleotide variantNM_001252.5(CD70):c.413G>A (p.Arg138His)Inborn genetic diseases [RCV004606590]likely benign1965861896586189Human1name
596926091CV3539734single nucleotide variantNM_001252.5(CD70):c.356C>T (p.Thr119Met)not provided [RCV004790725]uncertain significance1965862466586246Humanname
597631493CV3648488single nucleotide variantNM_001252.5(CD70):c.320A>C (p.His107Pro)Inborn genetic diseases [RCV004967724]uncertain significance1965862826586282Human1name
598207752CV3950830single nucleotide variantNM_001252.5(CD70):c.349T>C (p.Ser117Pro)Inborn genetic diseases [RCV005315339]uncertain significance1965862536586253Human1name
14350126CV590634single nucleotide variantNM_001252.5(CD70):c.535C>T (p.Arg179Ter)Severe combined immunodeficiency due to CD70 deficiency [RCV000735975]pathogenic1965860676586067Human1name , trait
405276150CV3208284single nucleotide variantNM_001330332.2(CD70):c.453T>G (p.Leu151=)CD70-related disorder [RCV003941713]likely benign1965834746583474Humanname , trait , alternate_id
405276146CV3208185single nucleotide variantNM_001330332.2(CD70):c.608A>G (p.Asn203Ser)CD70-related disorder [RCV003941626]likely benign1965833196583319Humanname , trait , alternate_id
14350129CV590636microsatelliteNM_001252.5(CD70):c.552CTT[1] (p.Phe186del)Severe combined immunodeficiency due to CD70 deficiency [RCV000735977]pathogenic1965860456586047Humanname , trait