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


88 records found for search term Caprin1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
596928094CV3532803single nucleotide variantNM_005898.5(CAPRIN1):c.688+5G>Anot provided [RCV004778901]likely pathogenic113407664734076647Humanname
596946957CV3547016single nucleotide variantNM_005898.5(CAPRIN1):c.217-4A>Gnot provided [RCV004810822]likely benign113407172234071722Humanname
405026724CV2852868single nucleotide variantNM_005898.5(CAPRIN1):c.1554+2T>CNeurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline [RCV003494062]uncertain significance113409068034090680Human1name
597667712CV3732712single nucleotide variantNM_005898.5(CAPRIN1):c.1123-7C>Gnot provided [RCV005004542]uncertain significance113408629834086298Humanname
616939479CV4013971single nucleotide variantNM_005898.5(CAPRIN1):c.2001+8A>Tnot provided [RCV005413463]likely benign113409730434097304Humanname
150451762CV1254869single nucleotide variantNM_005898.5(CAPRIN1):c.1122+19G>Anot provided [RCV001667928]benign113408623834086238Humanname
405657447CV3228464single nucleotide variantNM_005898.5(CAPRIN1):c.879G>A (p.Glu293=)Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006199]pathogenic113408287734082877Human1name
596947365CV3548918single nucleotide variantNM_005898.5(CAPRIN1):c.933G>A (p.Glu311=)not provided [RCV004811242]uncertain significance113408300834083008Humanname
597775468CV3643965single nucleotide variantNM_005898.5(CAPRIN1):c.46G>A (p.Gly16Arg)not specified [RCV004898245]uncertain significance113405246634052466Humanname
598213029CV3939319single nucleotide variantNM_005898.5(CAPRIN1):c.36C>G (p.Ser12Arg)not specified [RCV005316256]likely benign113405245634052456Humanname
155798146CV1860603deletionNM_005898.5(CAPRIN1):c.301del (p.Glu101fs)not provided [RCV002467245]uncertain significance113407192134071921Humanname
156294007CV2306380single nucleotide variantNM_005898.5(CAPRIN1):c.119A>T (p.Gln40Leu)not specified [RCV004163077]uncertain significance113405253934052539Humanname
329377475CV2453345single nucleotide variantNM_005898.5(CAPRIN1):c.169A>T (p.Ile57Phe)not specified [RCV004266969]uncertain significance113405258934052589Humanname
401720027CV2735606single nucleotide variantNM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)Autism [RCV003311577]likely pathogenic113407178334071783Human2name
405712696CV3299047single nucleotide variantNM_005898.5(CAPRIN1):c.112G>A (p.Ala38Thr)not specified [RCV004427046]uncertain significance113405253234052532Humanname
407425121CV3411116single nucleotide variantNM_005898.5(CAPRIN1):c.230A>G (p.Asp77Gly)not provided [RCV004588806]uncertain significance113407173934071739Humanname
407475302CV3424711single nucleotide variantNM_005898.5(CAPRIN1):c.113C>T (p.Ala38Val)not specified [RCV004600850]uncertain significance113405253334052533Humanname
408381823CV3501919single nucleotide variantNM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter)not provided [RCV004729447]pathogenic113407175034071750Humanname
598164411CV3939323single nucleotide variantNM_005898.5(CAPRIN1):c.121C>T (p.His41Tyr)not specified [RCV005307538]uncertain significance113405254134052541Humanname
616937726CV4014891single nucleotide variantNM_005898.5(CAPRIN1):c.170T>C (p.Ile57Thr)not provided [RCV005411907]uncertain significance113405259034052590Humanname
617153116CV4021089single nucleotide variantNM_005898.5(CAPRIN1):c.142G>A (p.Ala48Thr)not provided [RCV005428842]uncertain significance113405256234052562Humanname
156164698CV1866830single nucleotide variantNM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter)not provided [RCV002508382]pathogenic|uncertain significance113408607434086074Humanname
155999770CV2287309single nucleotide variantNM_005898.5(CAPRIN1):c.394C>T (p.Arg132Cys)not provided [RCV005422258]|not specified [RCV004146937]uncertain significance113407626334076263Humanname
156357446CV2318300single nucleotide variantNM_005898.5(CAPRIN1):c.535T>C (p.Ser179Pro)not specified [RCV004179471]uncertain significance113407640434076404Humanname
401734347CV2709465single nucleotide variantNM_005898.5(CAPRIN1):c.848A>G (p.Tyr283Cys)not specified [RCV004318712]uncertain significance113408284634082846Humanname
401740442CV2738719single nucleotide variantNM_005898.5(CAPRIN1):c.944A>T (p.Glu315Val)not provided [RCV003318113]uncertain significance113408301934083019Humanname
401830430CV2748132single nucleotide variantNM_005898.5(CAPRIN1):c.567C>G (p.Phe189Leu)not provided [RCV003329739]uncertain significance113407643634076436Humanname
401887958CV2768902single nucleotide variantNM_005898.5(CAPRIN1):c.611A>G (p.Asn204Ser)not specified [RCV004347007]uncertain significance113407656534076565Humanname
401898319CV2791108single nucleotide variantNM_005898.5(CAPRIN1):c.974A>G (p.Asn325Ser)not specified [RCV004356486]uncertain significance113408607134086071Humanname
401914905CV2830884single nucleotide variantNM_005898.5(CAPRIN1):c.325G>T (p.Ala109Ser)not provided [RCV003442623]uncertain significance113407194634071946Humanname
401964184CV2843541single nucleotide variantNM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg)not specified [RCV003479884]uncertain significance113408608634086086Humanname
405257619CV3190289single nucleotide variantNM_005898.5(CAPRIN1):c.523G>C (p.Val175Leu)CAPRIN1-related disorder [RCV003892327]uncertain significance113407639234076392Humanname , trait , alternate_id
405657445CV3228465single nucleotide variantNM_005898.5(CAPRIN1):c.892C>T (p.Gln298Ter)Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006200]pathogenic113408296734082967Human1name
405712721CV3299051single nucleotide variantNM_005898.5(CAPRIN1):c.674T>C (p.Val225Ala)not specified [RCV004427050]uncertain significance113407662834076628Humanname
405712727CV3299052single nucleotide variantNM_005898.5(CAPRIN1):c.985C>G (p.Gln329Glu)not specified [RCV004427051]uncertain significance113408608234086082Humanname
407475285CV3424708single nucleotide variantNM_005898.5(CAPRIN1):c.659G>T (p.Gly220Val)not specified [RCV004600847]uncertain significance113407661334076613Humanname
407475291CV3424709single nucleotide variantNM_005898.5(CAPRIN1):c.897C>G (p.Phe299Leu)not specified [RCV004600848]uncertain significance113408297234082972Humanname
407475296CV3424710single nucleotide variantNM_005898.5(CAPRIN1):c.617A>G (p.Gln206Arg)not specified [RCV004600849]uncertain significance113407657134076571Humanname
407475308CV3424712single nucleotide variantNM_005898.5(CAPRIN1):c.554T>G (p.Leu185Trp)not specified [RCV004600851]uncertain significance113407642334076423Humanname
408384842CV3506348deletionNM_005898.5(CAPRIN1):c.1648del (p.Ser550fs)CAPRIN1-related disorder [RCV004732161]likely pathogenic113409199634091996Humanname , trait , alternate_id
408381408CV3523857single nucleotide variantNM_005898.5(CAPRIN1):c.808G>T (p.Asp270Tyr)not provided [RCV004766255]uncertain significance113407974734079747Humanname
408385637CV3528606single nucleotide variantNM_005898.5(CAPRIN1):c.587A>C (p.Glu196Ala)not provided [RCV004772439]uncertain significance113407645634076456Humanname
596926530CV3530830single nucleotide variantNM_005898.5(CAPRIN1):c.890G>C (p.Arg297Thr)not provided [RCV004778415]uncertain significance113408296534082965Humanname
596938401CV3550245single nucleotide variantNM_005898.5(CAPRIN1):c.691A>G (p.Lys231Glu)Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004813547]uncertain significance113407963034079630Human1name
597751552CV3643964single nucleotide variantNM_005898.5(CAPRIN1):c.959C>T (p.Thr320Met)not specified [RCV004892686]uncertain significance113408303434083034Humanname
597751545CV3643966single nucleotide variantNM_005898.5(CAPRIN1):c.749A>G (p.His250Arg)not specified [RCV004892687]uncertain significance113407968834079688Humanname
597751539CV3643967single nucleotide variantNM_005898.5(CAPRIN1):c.857A>C (p.Gln286Pro)not specified [RCV004892688]uncertain significance113408285534082855Humanname
597775472CV3643968single nucleotide variantNM_005898.5(CAPRIN1):c.343A>G (p.Ser115Gly)not specified [RCV004898246]uncertain significance113407196434071964Humanname
597834148CV3735770single nucleotide variantNM_005898.5(CAPRIN1):c.799G>T (p.Ala267Ser)not provided [RCV005063633]uncertain significance113407973834079738Humanname
598123491CV3890361single nucleotide variantNM_005898.5(CAPRIN1):c.446T>G (p.Val149Gly)not provided [RCV005250880]uncertain significance113407631534076315Humanname
598164404CV3939322single nucleotide variantNM_005898.5(CAPRIN1):c.611A>T (p.Asn204Ile)not specified [RCV005307537]uncertain significance113407656534076565Humanname
616939752CV4014660single nucleotide variantNM_005898.5(CAPRIN1):c.841G>A (p.Glu281Lys)not provided [RCV005414154]uncertain significance113408283934082839Humanname
40815068CV970315single nucleotide variantNM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter)Moyamoya angiopathy [RCV004704482]likely pathogenic113407975034079750Humanname
127261762CV1087356single nucleotide variantNM_005898.5(CAPRIN1):c.2047C>A (p.Pro683Thr)See cases [RCV001420650]uncertain significance113409774334097743Humanname
155645891CV1709247single nucleotide variantNM_005898.5(CAPRIN1):c.1457C>T (p.Ala486Val)not provided [RCV002292123]uncertain significance113409058134090581Humanname
155644923CV1710466single nucleotide variantNM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr)not provided [RCV002293762]likely pathogenic|uncertain significance113409201134092011Humanname
156277824CV1911978single nucleotide variantNM_005898.5(CAPRIN1):c.1271C>T (p.Pro424Leu)not provided [RCV002628326]uncertain significance113408943434089434Humanname
156435432CV2403563single nucleotide variantNM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)Autism spectrum disorder [RCV003128025]likely benign113408618134086181Human2name
329370674CV2461825single nucleotide variantNM_005898.5(CAPRIN1):c.1502T>C (p.Leu501Ser)not specified [RCV004271744]uncertain significance113409062634090626Humanname
329848445CV2523213single nucleotide variantNM_005898.5(CAPRIN1):c.1654C>T (p.Gln552Ter)Focal-onset seizure [RCV003224973]likely pathogenic113409200534092005Human2name
401723505CV2672135single nucleotide variantNM_005898.5(CAPRIN1):c.1562A>G (p.Asn521Ser)not provided [RCV003239036]uncertain significance113409191334091913Humanname
401798363CV2741452single nucleotide variantNM_005898.5(CAPRIN1):c.1815C>G (p.Tyr605Ter)CAPRIN1-associated disorder [RCV003322670]uncertain significance113409658834096588Humanname , trait
401798956CV2741538single nucleotide variantNM_005898.5(CAPRIN1):c.1919G>A (p.Arg640His)not provided [RCV003322946]uncertain significance113409721434097214Humanname
401863018CV2755784single nucleotide variantNM_005898.5(CAPRIN1):c.1889A>G (p.Asn630Ser)not specified [RCV004342160]uncertain significance113409666234096662Humanname
401937648CV2798929single nucleotide variantNM_005898.5(CAPRIN1):c.1432A>G (p.Thr478Ala)CAPRIN1-related disorder [RCV003416738]uncertain significance113409055634090556Humanname , trait , alternate_id
401941689CV2831953single nucleotide variantNM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)Cerebellar ataxia [RCV003458924]|Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline [RCV003447462]|not provided [RCV003488800]pathogenic|likely pathogenic|uncertain significance113409065934090659Human3name
405657435CV3228466single nucleotide variantNM_005898.5(CAPRIN1):c.1195C>T (p.Gln399Ter)Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006201]pathogenic113408637734086377Human1name
405657408CV3228467single nucleotide variantNM_005898.5(CAPRIN1):c.1744C>T (p.Gln582Ter)Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006202]pathogenic113409651734096517Human1name
405712704CV3299048single nucleotide variantNM_005898.5(CAPRIN1):c.1456G>A (p.Ala486Thr)not specified [RCV004427047]uncertain significance113409058034090580Humanname
405712711CV3299049single nucleotide variantNM_005898.5(CAPRIN1):c.1627G>C (p.Ala543Pro)not specified [RCV004427048]uncertain significance113409197834091978Humanname
405712716CV3299050single nucleotide variantNM_005898.5(CAPRIN1):c.1866G>A (p.Met622Ile)not specified [RCV004427049]uncertain significance113409663934096639Humanname
408388495CV3522678single nucleotide variantNM_005898.5(CAPRIN1):c.1834C>G (p.Arg612Gly)not provided [RCV004769059]uncertain significance113409660734096607Humanname
408391260CV3523126single nucleotide variantNM_005898.5(CAPRIN1):c.1582C>A (p.Pro528Thr)not provided [RCV004770498]uncertain significance113409193334091933Humanname
408381798CV3526603single nucleotide variantNM_005898.5(CAPRIN1):c.1967T>G (p.Phe656Cys)not provided [RCV004771916]uncertain significance113409726234097262Humanname
597775464CV3643963single nucleotide variantNM_005898.5(CAPRIN1):c.1395T>A (p.Asp465Glu)not specified [RCV004898244]uncertain significance113409028034090280Humanname
597775475CV3643969single nucleotide variantNM_005898.5(CAPRIN1):c.1703C>G (p.Thr568Arg)not specified [RCV004898247]uncertain significance113409205434092054Humanname
597751534CV3643970single nucleotide variantNM_005898.5(CAPRIN1):c.1510A>G (p.Ser504Gly)not specified [RCV004892689]uncertain significance113409063434090634Humanname
597760010CV3643971single nucleotide variantNM_005898.5(CAPRIN1):c.1037C>T (p.Pro346Leu)not specified [RCV004894674]uncertain significance113408613434086134Humanname
597934973CV3807191single nucleotide variantNM_005898.5(CAPRIN1):c.1843T>G (p.Ser615Ala)not provided [RCV005157762]uncertain significance113409661634096616Humanname
598129182CV3888475single nucleotide variantNM_005898.5(CAPRIN1):c.1209G>T (p.Met403Ile)not provided [RCV005244649]uncertain significance113408639134086391Humanname
598164391CV3939320single nucleotide variantNM_005898.5(CAPRIN1):c.1506T>G (p.His502Gln)not specified [RCV005307535]uncertain significance113409063034090630Humanname
598164419CV3939324single nucleotide variantNM_005898.5(CAPRIN1):c.1114T>A (p.Phe372Ile)not specified [RCV005307539]uncertain significance113408621134086211Humanname
616935000CV4009227single nucleotide variantNM_005898.5(CAPRIN1):c.1795C>T (p.Arg599Cys)not provided [RCV005402399]uncertain significance113409656834096568Humanname
28887494CV859866single nucleotide variantNM_005898.5(CAPRIN1):c.1948G>A (p.Gly650Ser)not provided [RCV001091949]uncertain significance113409724334097243Humanname
401830897CV2748521deletionNM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)Juvenile myoclonic epilepsy [RCV003330170]pathogenic113408296434082967Human1name
151661288CV1329810deletionNM_005898.5(CAPRIN1):c.1493_1496del (p.Ser498fs)CAPRIN1-related neurodevelopmental disorders [RCV001822993]pathogenic113409061434090617Humanname , trait
596938594CV3549646indelNM_005898.5(CAPRIN1):c.1318_1319delinsTT (p.Glu440Leu)not provided [RCV004812686]uncertain significance113409020334090204Humanname
598164397CV3939321deletionNM_005898.5(CAPRIN1):c.1604del (p.Thr534_Leu535insTer)not specified [RCV005307536]pathogenic113409195334091953Humanname