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


32 records found for search term Spdef
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15104547CV722006single nucleotide variantNM_012391.3(SPDEF):c.144C>T (p.Pro48=)not provided [RCV000892907]benign63454431234544312Humanname
156257577CV2204592single nucleotide variantNM_012391.3(SPDEF):c.71C>T (p.Ser24Leu)not specified [RCV004081700]likely benign63454438534544385Humanname
155909585CV2359835single nucleotide variantNM_012391.3(SPDEF):c.31G>A (p.Val11Ile)not specified [RCV004212689]uncertain significance63454442534544425Humanname
329382652CV2424512single nucleotide variantNM_012391.3(SPDEF):c.65C>T (p.Thr22Met)not specified [RCV004252397]uncertain significance63454439134544391Humanname
329368142CV2457069single nucleotide variantNM_012391.3(SPDEF):c.98C>T (p.Ala33Val)not specified [RCV004264854]uncertain significance63454435834544358Humanname
401920605CV2822976single nucleotide variantNM_012391.3(SPDEF):c.906C>T (p.Tyr302=)not provided [RCV003431819]likely benign63453837634538376Humanname
598262564CV3919050single nucleotide variantNM_012391.3(SPDEF):c.56C>T (p.Pro19Leu)not specified [RCV005280218]uncertain significance63454440034544400Humanname
15135803CV710464single nucleotide variantNM_012391.3(SPDEF):c.504G>C (p.Leu168=)not provided [RCV000965346]benign63454111434541114Humanname
156143729CV2358598single nucleotide variantNM_012391.3(SPDEF):c.229G>T (p.Ala77Ser)not specified [RCV004207475]uncertain significance63454422734544227Humanname
401887599CV2773536single nucleotide variantNM_012391.3(SPDEF):c.134C>A (p.Pro45His)not specified [RCV004355947]uncertain significance63454432234544322Humanname
405716751CV3326657single nucleotide variantNM_012391.3(SPDEF):c.214A>G (p.Ser72Gly)not specified [RCV004462608]uncertain significance63454424234544242Humanname
405716758CV3326658single nucleotide variantNM_012391.3(SPDEF):c.247C>T (p.Arg83Trp)not specified [RCV004462609]uncertain significance63454420934544209Humanname
405716765CV3326659single nucleotide variantNM_012391.3(SPDEF):c.281C>T (p.Pro94Leu)not specified [RCV004462610]uncertain significance63454417534544175Humanname
407510944CV3481623single nucleotide variantNM_012391.3(SPDEF):c.232C>T (p.Pro78Ser)not specified [RCV004672936]uncertain significance63454422434544224Humanname
597767963CV3608117single nucleotide variantNM_012391.3(SPDEF):c.260C>T (p.Pro87Leu)not specified [RCV004870939]uncertain significance63454419634544196Humanname
597767968CV3608118single nucleotide variantNM_012391.3(SPDEF):c.233C>T (p.Pro78Leu)not specified [RCV004870940]uncertain significance63454422334544223Humanname
156241633CV2246142single nucleotide variantNM_012391.3(SPDEF):c.919C>A (p.Arg307Ser)not specified [RCV004114042]uncertain significance63453836334538363Humanname
156198440CV2255901single nucleotide variantNM_012391.3(SPDEF):c.674A>G (p.His225Arg)not specified [RCV004122361]uncertain significance63453952334539523Humanname
156043339CV2307916single nucleotide variantNM_012391.3(SPDEF):c.328G>A (p.Gly110Ser)not specified [RCV004170369]uncertain significance63454412834544128Humanname
329375073CV2431366single nucleotide variantNM_012391.3(SPDEF):c.865C>T (p.Arg289Trp)not specified [RCV004252917]uncertain significance63453841734538417Humanname
329397724CV2456521single nucleotide variantNM_012391.3(SPDEF):c.581G>T (p.Arg194Leu)not specified [RCV004275661]uncertain significance63454103734541037Humanname
401726503CV2674162single nucleotide variantNM_012391.3(SPDEF):c.779T>A (p.Leu260His)not specified [RCV004295563]uncertain significance63453930034539300Humanname
401858775CV2774399single nucleotide variantNM_012391.3(SPDEF):c.508C>G (p.Pro170Ala)not specified [RCV004347739]uncertain significance63454111034541110Humanname
405716774CV3326660single nucleotide variantNM_012391.3(SPDEF):c.427A>G (p.Ile143Val)not specified [RCV004462611]uncertain significance63454402934544029Humanname
405716780CV3326661single nucleotide variantNM_012391.3(SPDEF):c.560C>T (p.Ser187Leu)not specified [RCV004462612]uncertain significance63454105834541058Humanname
405716790CV3326662single nucleotide variantNM_012391.3(SPDEF):c.652C>T (p.Arg218Trp)not specified [RCV004462613]uncertain significance63453954534539545Humanname
405716798CV3326663single nucleotide variantNM_012391.3(SPDEF):c.659C>T (p.Ser220Leu)not specified [RCV004462614]uncertain significance63453953834539538Humanname
405716803CV3326664single nucleotide variantNM_012391.3(SPDEF):c.664G>A (p.Gly222Arg)not specified [RCV004462615]uncertain significance63453953334539533Humanname
405716821CV3326666single nucleotide variantNM_012391.3(SPDEF):c.889C>T (p.Arg297Cys)not specified [RCV004462617]uncertain significance63453839334538393Humanname
407510947CV3481624single nucleotide variantNM_012391.3(SPDEF):c.653G>A (p.Arg218Gln)not specified [RCV004672937]uncertain significance63453954434539544Humanname
597742651CV3608116single nucleotide variantNM_012391.3(SPDEF):c.536C>T (p.Ala179Val)not specified [RCV004865124]uncertain significance63454108234541082Humanname
598262567CV3919051single nucleotide variantNM_012391.3(SPDEF):c.553G>A (p.Ala185Thr)not specified [RCV005280219]uncertain significance63454106534541065Humanname