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


39 records found for search term Cpb2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15121271CV776036single nucleotide variantNM_001872.5(CPB2):c.75-4C>Gnot provided [RCV000940491]likely benign134608782446087824Humanname
8582851CV117407single nucleotide variantNM_001872.4(CPB2):c.75-7361C>TLung cancer [RCV000097928]uncertain significance134609518146095181Humanname
405288328CV3197294single nucleotide variantNM_001872.5(CPB2):c.291T>C (p.Asp97=)CPB2-related disorder [RCV003982390]benign134608253446082534Humanname , trait , alternate_id
407456969CV3419581single nucleotide variantNM_001872.5(CPB2):c.20C>A (p.Ala7Glu)not specified [RCV004610975]uncertain significance134610499046104990Humanname
407456975CV3419583single nucleotide variantNM_001872.5(CPB2):c.16C>T (p.Leu6Phe)not specified [RCV004610977]likely benign134610499446104994Humanname
405276138CV3193244single nucleotide variantNM_001872.5(CPB2):c.753C>T (p.Ile251=)CPB2-related disorder [RCV003974410]benign134606469146064691Human2name , trait , alternate_id
405284416CV3196833single nucleotide variantNM_001872.5(CPB2):c.678T>C (p.Asp226=)CPB2-related disorder [RCV003979706]benign134606733146067331Humanname , trait , alternate_id
405280402CV3200725single nucleotide variantNM_001872.5(CPB2):c.663A>G (p.Pro221=)CPB2-related disorder [RCV003977350]benign134606734646067346Humanname , trait , alternate_id
405272849CV3210174single nucleotide variantNM_001872.5(CPB2):c.552A>G (p.Glu184=)CPB2-related disorder [RCV003914415]likely benign134607391246073912Humanname , trait , alternate_id
407456967CV3419580single nucleotide variantNM_001872.5(CPB2):c.64G>A (p.Ala22Thr)not specified [RCV004610974]uncertain significance134610494646104946Humanname
15179176CV725497single nucleotide variantNM_001872.5(CPB2):c.735T>C (p.Tyr245=)not provided [RCV000885232]likely benign134606470946064709Humanname
15161218CV725498single nucleotide variantNM_001872.5(CPB2):c.426T>C (p.Asp142=)not provided [RCV000881532]benign134607886046078860Humanname
401868579CV2767279single nucleotide variantNM_001872.5(CPB2):c.197A>C (p.Lys66Thr)not specified [RCV004349449]uncertain significance134608429746084297Humanname
405268284CV3198845single nucleotide variantNM_001872.5(CPB2):c.1215T>C (p.Cys405=)CPB2-related disorder [RCV003911964]likely benign134605367146053671Humanname , trait , alternate_id
405686283CV3235880single nucleotide variantNM_001872.5(CPB2):c.256G>A (p.Val86Met)not specified [RCV004372394]uncertain significance134608423846084238Humanname
405686288CV3235881single nucleotide variantNM_001872.5(CPB2):c.268C>T (p.Pro90Ser)not specified [RCV004372395]uncertain significance134608422646084226Humanname
596947587CV3549146single nucleotide variantNM_001872.5(CPB2):c.1090C>T (p.Leu364=)not provided [RCV004811470]likely benign134605379646053796Humanname
597650460CV3650989single nucleotide variantNM_001872.5(CPB2):c.136A>C (p.Thr46Pro)not specified [RCV004910464]uncertain significance134608775946087759Humanname
401884428CV2761728single nucleotide variantNM_001872.5(CPB2):c.737C>T (p.Ala246Val)not specified [RCV004337338]uncertain significance134606470746064707Humanname
401894001CV2770209single nucleotide variantNM_001872.5(CPB2):c.353C>T (p.Ser118Leu)not specified [RCV004356100]uncertain significance134608247246082472Humanname
405276600CV3193470single nucleotide variantNM_001872.5(CPB2):c.505G>A (p.Ala169Thr)CPB2-related disorder [RCV003974638]benign134607395946073959Human1name , trait , alternate_id
405686294CV3235882single nucleotide variantNM_001872.5(CPB2):c.349G>T (p.Ala117Ser)not specified [RCV004372396]likely benign134608247646082476Humanname
405686298CV3235883single nucleotide variantNM_001872.5(CPB2):c.386T>C (p.Ile129Thr)not specified [RCV004372397]uncertain significance134607890046078900Humanname
407456972CV3419582single nucleotide variantNM_001872.5(CPB2):c.314A>G (p.Gln105Arg)not specified [RCV004610976]uncertain significance134608251146082511Humanname
597650433CV3650985single nucleotide variantNM_001872.5(CPB2):c.511A>G (p.Lys171Glu)not specified [RCV004910461]uncertain significance134607395346073953Humanname
598235460CV3945192single nucleotide variantNM_001872.5(CPB2):c.448G>A (p.Gly150Arg)not specified [RCV005320256]uncertain significance134607883846078838Humanname
598264940CV3945196single nucleotide variantNM_001872.5(CPB2):c.475T>C (p.Tyr159His)not specified [RCV005326232]uncertain significance134607881146078811Humanname
156294184CV2321391single nucleotide variantNM_001872.5(CPB2):c.1018G>A (p.Ala340Thr)not specified [RCV004177382]uncertain significance134605583146055831Humanname
329379502CV2443437single nucleotide variantNM_001872.5(CPB2):c.1184T>C (p.Leu395Ser)not specified [RCV004262277]uncertain significance134605370246053702Humanname
329389961CV2457369single nucleotide variantNM_001872.5(CPB2):c.1081A>G (p.Thr361Ala)not specified [RCV004267202]uncertain significance134605576846055768Humanname
401889352CV2759786single nucleotide variantNM_001872.5(CPB2):c.1006G>T (p.Val336Leu)not specified [RCV004342826]uncertain significance134605584346055843Humanname
405284128CV3196651single nucleotide variantNM_001872.5(CPB2):c.1040T>C (p.Ile347Thr)CPB2-related disorder [RCV003979559]benign134605580946055809Human8name , trait , alternate_id
407456978CV3419584single nucleotide variantNM_001872.5(CPB2):c.1221A>T (p.Glu407Asp)not specified [RCV004610978]likely benign134605366546053665Humanname
597650442CV3650986single nucleotide variantNM_001872.5(CPB2):c.1172C>T (p.Thr391Ile)not specified [RCV004910462]uncertain significance134605371446053714Humanname
597650450CV3650988single nucleotide variantNM_001872.5(CPB2):c.1211C>T (p.Thr404Ile)not specified [RCV004910463]uncertain significance134605367546053675Humanname
598235467CV3945193single nucleotide variantNM_001872.5(CPB2):c.1079A>G (p.Glu360Gly)not specified [RCV005320257]uncertain significance134605577046055770Humanname
598235474CV3945194single nucleotide variantNM_001872.5(CPB2):c.1217G>C (p.Arg406Thr)not specified [RCV005320258]likely benign134605366946053669Humanname
8635054CV90276single nucleotide variantNM_001872.4(CPB2):c.1226T>C (p.Phe409Ser)Malignant melanoma [RCV000070374]not provided134605366046053660Humanname
408367313CV3509922deletionNM_001872.5(CPB2):c.609del (p.Gly203_Ile204insTer)CPB2-related disorder [RCV004758361]uncertain significance134606740046067400Humanname , trait , alternate_id