| 596928094 | CV3532803 | single nucleotide variant | NM_005898.5(CAPRIN1):c.688+5G>A | not provided [RCV004778901] | likely pathogenic | 11 | 34076647 | 34076647 | Human | | name |
| 596946957 | CV3547016 | single nucleotide variant | NM_005898.5(CAPRIN1):c.217-4A>G | not provided [RCV004810822] | likely benign | 11 | 34071722 | 34071722 | Human | | name |
| 405026724 | CV2852868 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1554+2T>C | Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline [RCV003494062] | uncertain significance | 11 | 34090680 | 34090680 | Human | 1 | name |
| 597667712 | CV3732712 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1123-7C>G | not provided [RCV005004542] | uncertain significance | 11 | 34086298 | 34086298 | Human | | name |
| 616939479 | CV4013971 | single nucleotide variant | NM_005898.5(CAPRIN1):c.2001+8A>T | not provided [RCV005413463] | likely benign | 11 | 34097304 | 34097304 | Human | | name |
| 150451762 | CV1254869 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1122+19G>A | not provided [RCV001667928] | benign | 11 | 34086238 | 34086238 | Human | | name |
| 405657447 | CV3228464 | single nucleotide variant | NM_005898.5(CAPRIN1):c.879G>A (p.Glu293=) | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006199] | pathogenic | 11 | 34082877 | 34082877 | Human | 1 | name |
| 596947365 | CV3548918 | single nucleotide variant | NM_005898.5(CAPRIN1):c.933G>A (p.Glu311=) | not provided [RCV004811242] | uncertain significance | 11 | 34083008 | 34083008 | Human | | name |
| 597775468 | CV3643965 | single nucleotide variant | NM_005898.5(CAPRIN1):c.46G>A (p.Gly16Arg) | not specified [RCV004898245] | uncertain significance | 11 | 34052466 | 34052466 | Human | | name |
| 598213029 | CV3939319 | single nucleotide variant | NM_005898.5(CAPRIN1):c.36C>G (p.Ser12Arg) | not specified [RCV005316256] | likely benign | 11 | 34052456 | 34052456 | Human | | name |
| 155798146 | CV1860603 | deletion | NM_005898.5(CAPRIN1):c.301del (p.Glu101fs) | not provided [RCV002467245] | uncertain significance | 11 | 34071921 | 34071921 | Human | | name |
| 156294007 | CV2306380 | single nucleotide variant | NM_005898.5(CAPRIN1):c.119A>T (p.Gln40Leu) | not specified [RCV004163077] | uncertain significance | 11 | 34052539 | 34052539 | Human | | name |
| 329377475 | CV2453345 | single nucleotide variant | NM_005898.5(CAPRIN1):c.169A>T (p.Ile57Phe) | not specified [RCV004266969] | uncertain significance | 11 | 34052589 | 34052589 | Human | | name |
| 401720027 | CV2735606 | single nucleotide variant | NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter) | Autism [RCV003311577] | likely pathogenic | 11 | 34071783 | 34071783 | Human | 2 | name |
| 405712696 | CV3299047 | single nucleotide variant | NM_005898.5(CAPRIN1):c.112G>A (p.Ala38Thr) | not specified [RCV004427046] | uncertain significance | 11 | 34052532 | 34052532 | Human | | name |
| 407425121 | CV3411116 | single nucleotide variant | NM_005898.5(CAPRIN1):c.230A>G (p.Asp77Gly) | not provided [RCV004588806] | uncertain significance | 11 | 34071739 | 34071739 | Human | | name |
| 407475302 | CV3424711 | single nucleotide variant | NM_005898.5(CAPRIN1):c.113C>T (p.Ala38Val) | not specified [RCV004600850] | uncertain significance | 11 | 34052533 | 34052533 | Human | | name |
| 408381823 | CV3501919 | single nucleotide variant | NM_005898.5(CAPRIN1):c.241C>T (p.Arg81Ter) | not provided [RCV004729447] | pathogenic | 11 | 34071750 | 34071750 | Human | | name |
| 598164411 | CV3939323 | single nucleotide variant | NM_005898.5(CAPRIN1):c.121C>T (p.His41Tyr) | not specified [RCV005307538] | uncertain significance | 11 | 34052541 | 34052541 | Human | | name |
| 616937726 | CV4014891 | single nucleotide variant | NM_005898.5(CAPRIN1):c.170T>C (p.Ile57Thr) | not provided [RCV005411907] | uncertain significance | 11 | 34052590 | 34052590 | Human | | name |
| 617153116 | CV4021089 | single nucleotide variant | NM_005898.5(CAPRIN1):c.142G>A (p.Ala48Thr) | not provided [RCV005428842] | uncertain significance | 11 | 34052562 | 34052562 | Human | | name |
| 156164698 | CV1866830 | single nucleotide variant | NM_005898.5(CAPRIN1):c.977C>A (p.Ser326Ter) | not provided [RCV002508382] | pathogenic|uncertain significance | 11 | 34086074 | 34086074 | Human | | name |
| 155999770 | CV2287309 | single nucleotide variant | NM_005898.5(CAPRIN1):c.394C>T (p.Arg132Cys) | not provided [RCV005422258]|not specified [RCV004146937] | uncertain significance | 11 | 34076263 | 34076263 | Human | | name |
| 156357446 | CV2318300 | single nucleotide variant | NM_005898.5(CAPRIN1):c.535T>C (p.Ser179Pro) | not specified [RCV004179471] | uncertain significance | 11 | 34076404 | 34076404 | Human | | name |
| 401734347 | CV2709465 | single nucleotide variant | NM_005898.5(CAPRIN1):c.848A>G (p.Tyr283Cys) | not specified [RCV004318712] | uncertain significance | 11 | 34082846 | 34082846 | Human | | name |
| 401740442 | CV2738719 | single nucleotide variant | NM_005898.5(CAPRIN1):c.944A>T (p.Glu315Val) | not provided [RCV003318113] | uncertain significance | 11 | 34083019 | 34083019 | Human | | name |
| 401830430 | CV2748132 | single nucleotide variant | NM_005898.5(CAPRIN1):c.567C>G (p.Phe189Leu) | not provided [RCV003329739] | uncertain significance | 11 | 34076436 | 34076436 | Human | | name |
| 401887958 | CV2768902 | single nucleotide variant | NM_005898.5(CAPRIN1):c.611A>G (p.Asn204Ser) | not specified [RCV004347007] | uncertain significance | 11 | 34076565 | 34076565 | Human | | name |
| 401898319 | CV2791108 | single nucleotide variant | NM_005898.5(CAPRIN1):c.974A>G (p.Asn325Ser) | not specified [RCV004356486] | uncertain significance | 11 | 34086071 | 34086071 | Human | | name |
| 401914905 | CV2830884 | single nucleotide variant | NM_005898.5(CAPRIN1):c.325G>T (p.Ala109Ser) | not provided [RCV003442623] | uncertain significance | 11 | 34071946 | 34071946 | Human | | name |
| 401964184 | CV2843541 | single nucleotide variant | NM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg) | not specified [RCV003479884] | uncertain significance | 11 | 34086086 | 34086086 | Human | | name |
| 405257619 | CV3190289 | single nucleotide variant | NM_005898.5(CAPRIN1):c.523G>C (p.Val175Leu) | CAPRIN1-related disorder [RCV003892327] | uncertain significance | 11 | 34076392 | 34076392 | Human | | name , trait , alternate_id |
| 405657445 | CV3228465 | single nucleotide variant | NM_005898.5(CAPRIN1):c.892C>T (p.Gln298Ter) | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006200] | pathogenic | 11 | 34082967 | 34082967 | Human | 1 | name |
| 405712721 | CV3299051 | single nucleotide variant | NM_005898.5(CAPRIN1):c.674T>C (p.Val225Ala) | not specified [RCV004427050] | uncertain significance | 11 | 34076628 | 34076628 | Human | | name |
| 405712727 | CV3299052 | single nucleotide variant | NM_005898.5(CAPRIN1):c.985C>G (p.Gln329Glu) | not specified [RCV004427051] | uncertain significance | 11 | 34086082 | 34086082 | Human | | name |
| 407475285 | CV3424708 | single nucleotide variant | NM_005898.5(CAPRIN1):c.659G>T (p.Gly220Val) | not specified [RCV004600847] | uncertain significance | 11 | 34076613 | 34076613 | Human | | name |
| 407475291 | CV3424709 | single nucleotide variant | NM_005898.5(CAPRIN1):c.897C>G (p.Phe299Leu) | not specified [RCV004600848] | uncertain significance | 11 | 34082972 | 34082972 | Human | | name |
| 407475296 | CV3424710 | single nucleotide variant | NM_005898.5(CAPRIN1):c.617A>G (p.Gln206Arg) | not specified [RCV004600849] | uncertain significance | 11 | 34076571 | 34076571 | Human | | name |
| 407475308 | CV3424712 | single nucleotide variant | NM_005898.5(CAPRIN1):c.554T>G (p.Leu185Trp) | not specified [RCV004600851] | uncertain significance | 11 | 34076423 | 34076423 | Human | | name |
| 408384842 | CV3506348 | deletion | NM_005898.5(CAPRIN1):c.1648del (p.Ser550fs) | CAPRIN1-related disorder [RCV004732161] | likely pathogenic | 11 | 34091996 | 34091996 | Human | | name , trait , alternate_id |
| 408381408 | CV3523857 | single nucleotide variant | NM_005898.5(CAPRIN1):c.808G>T (p.Asp270Tyr) | not provided [RCV004766255] | uncertain significance | 11 | 34079747 | 34079747 | Human | | name |
| 408385637 | CV3528606 | single nucleotide variant | NM_005898.5(CAPRIN1):c.587A>C (p.Glu196Ala) | not provided [RCV004772439] | uncertain significance | 11 | 34076456 | 34076456 | Human | | name |
| 596926530 | CV3530830 | single nucleotide variant | NM_005898.5(CAPRIN1):c.890G>C (p.Arg297Thr) | not provided [RCV004778415] | uncertain significance | 11 | 34082965 | 34082965 | Human | | name |
| 596938401 | CV3550245 | single nucleotide variant | NM_005898.5(CAPRIN1):c.691A>G (p.Lys231Glu) | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004813547] | uncertain significance | 11 | 34079630 | 34079630 | Human | 1 | name |
| 597751552 | CV3643964 | single nucleotide variant | NM_005898.5(CAPRIN1):c.959C>T (p.Thr320Met) | not specified [RCV004892686] | uncertain significance | 11 | 34083034 | 34083034 | Human | | name |
| 597751545 | CV3643966 | single nucleotide variant | NM_005898.5(CAPRIN1):c.749A>G (p.His250Arg) | not specified [RCV004892687] | uncertain significance | 11 | 34079688 | 34079688 | Human | | name |
| 597751539 | CV3643967 | single nucleotide variant | NM_005898.5(CAPRIN1):c.857A>C (p.Gln286Pro) | not specified [RCV004892688] | uncertain significance | 11 | 34082855 | 34082855 | Human | | name |
| 597775472 | CV3643968 | single nucleotide variant | NM_005898.5(CAPRIN1):c.343A>G (p.Ser115Gly) | not specified [RCV004898246] | uncertain significance | 11 | 34071964 | 34071964 | Human | | name |
| 597834148 | CV3735770 | single nucleotide variant | NM_005898.5(CAPRIN1):c.799G>T (p.Ala267Ser) | not provided [RCV005063633] | uncertain significance | 11 | 34079738 | 34079738 | Human | | name |
| 598123491 | CV3890361 | single nucleotide variant | NM_005898.5(CAPRIN1):c.446T>G (p.Val149Gly) | not provided [RCV005250880] | uncertain significance | 11 | 34076315 | 34076315 | Human | | name |
| 598164404 | CV3939322 | single nucleotide variant | NM_005898.5(CAPRIN1):c.611A>T (p.Asn204Ile) | not specified [RCV005307537] | uncertain significance | 11 | 34076565 | 34076565 | Human | | name |
| 616939752 | CV4014660 | single nucleotide variant | NM_005898.5(CAPRIN1):c.841G>A (p.Glu281Lys) | not provided [RCV005414154] | uncertain significance | 11 | 34082839 | 34082839 | Human | | name |
| 40815068 | CV970315 | single nucleotide variant | NM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter) | Moyamoya angiopathy [RCV004704482] | likely pathogenic | 11 | 34079750 | 34079750 | Human | | name |
| 127261762 | CV1087356 | single nucleotide variant | NM_005898.5(CAPRIN1):c.2047C>A (p.Pro683Thr) | See cases [RCV001420650] | uncertain significance | 11 | 34097743 | 34097743 | Human | | name |
| 155645891 | CV1709247 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1457C>T (p.Ala486Val) | not provided [RCV002292123] | uncertain significance | 11 | 34090581 | 34090581 | Human | | name |
| 155644923 | CV1710466 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1660C>T (p.His554Tyr) | not provided [RCV002293762] | likely pathogenic|uncertain significance | 11 | 34092011 | 34092011 | Human | | name |
| 156277824 | CV1911978 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1271C>T (p.Pro424Leu) | not provided [RCV002628326] | uncertain significance | 11 | 34089434 | 34089434 | Human | | name |
| 156435432 | CV2403563 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe) | Autism spectrum disorder [RCV003128025] | likely benign | 11 | 34086181 | 34086181 | Human | 2 | name |
| 329370674 | CV2461825 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1502T>C (p.Leu501Ser) | not specified [RCV004271744] | uncertain significance | 11 | 34090626 | 34090626 | Human | | name |
| 329848445 | CV2523213 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1654C>T (p.Gln552Ter) | Focal-onset seizure [RCV003224973] | likely pathogenic | 11 | 34092005 | 34092005 | Human | 2 | name |
| 401723505 | CV2672135 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1562A>G (p.Asn521Ser) | not provided [RCV003239036] | uncertain significance | 11 | 34091913 | 34091913 | Human | | name |
| 401798363 | CV2741452 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1815C>G (p.Tyr605Ter) | CAPRIN1-associated disorder [RCV003322670] | uncertain significance | 11 | 34096588 | 34096588 | Human | | name , trait |
| 401798956 | CV2741538 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1919G>A (p.Arg640His) | not provided [RCV003322946] | uncertain significance | 11 | 34097214 | 34097214 | Human | | name |
| 401863018 | CV2755784 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1889A>G (p.Asn630Ser) | not specified [RCV004342160] | uncertain significance | 11 | 34096662 | 34096662 | Human | | name |
| 401937648 | CV2798929 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1432A>G (p.Thr478Ala) | CAPRIN1-related disorder [RCV003416738] | uncertain significance | 11 | 34090556 | 34090556 | Human | | name , trait , alternate_id |
| 401941689 | CV2831953 | single nucleotide variant | NM_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 significance | 11 | 34090659 | 34090659 | Human | 3 | name |
| 405657435 | CV3228466 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1195C>T (p.Gln399Ter) | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006201] | pathogenic | 11 | 34086377 | 34086377 | Human | 1 | name |
| 405657408 | CV3228467 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1744C>T (p.Gln582Ter) | Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder [RCV004006202] | pathogenic | 11 | 34096517 | 34096517 | Human | 1 | name |
| 405712704 | CV3299048 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1456G>A (p.Ala486Thr) | not specified [RCV004427047] | uncertain significance | 11 | 34090580 | 34090580 | Human | | name |
| 405712711 | CV3299049 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1627G>C (p.Ala543Pro) | not specified [RCV004427048] | uncertain significance | 11 | 34091978 | 34091978 | Human | | name |
| 405712716 | CV3299050 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1866G>A (p.Met622Ile) | not specified [RCV004427049] | uncertain significance | 11 | 34096639 | 34096639 | Human | | name |
| 408388495 | CV3522678 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1834C>G (p.Arg612Gly) | not provided [RCV004769059] | uncertain significance | 11 | 34096607 | 34096607 | Human | | name |
| 408391260 | CV3523126 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1582C>A (p.Pro528Thr) | not provided [RCV004770498] | uncertain significance | 11 | 34091933 | 34091933 | Human | | name |
| 408381798 | CV3526603 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1967T>G (p.Phe656Cys) | not provided [RCV004771916] | uncertain significance | 11 | 34097262 | 34097262 | Human | | name |
| 597775464 | CV3643963 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1395T>A (p.Asp465Glu) | not specified [RCV004898244] | uncertain significance | 11 | 34090280 | 34090280 | Human | | name |
| 597775475 | CV3643969 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1703C>G (p.Thr568Arg) | not specified [RCV004898247] | uncertain significance | 11 | 34092054 | 34092054 | Human | | name |
| 597751534 | CV3643970 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1510A>G (p.Ser504Gly) | not specified [RCV004892689] | uncertain significance | 11 | 34090634 | 34090634 | Human | | name |
| 597760010 | CV3643971 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1037C>T (p.Pro346Leu) | not specified [RCV004894674] | uncertain significance | 11 | 34086134 | 34086134 | Human | | name |
| 597934973 | CV3807191 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1843T>G (p.Ser615Ala) | not provided [RCV005157762] | uncertain significance | 11 | 34096616 | 34096616 | Human | | name |
| 598129182 | CV3888475 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1209G>T (p.Met403Ile) | not provided [RCV005244649] | uncertain significance | 11 | 34086391 | 34086391 | Human | | name |
| 598164391 | CV3939320 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1506T>G (p.His502Gln) | not specified [RCV005307535] | uncertain significance | 11 | 34090630 | 34090630 | Human | | name |
| 598164419 | CV3939324 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1114T>A (p.Phe372Ile) | not specified [RCV005307539] | uncertain significance | 11 | 34086211 | 34086211 | Human | | name |
| 616935000 | CV4009227 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1795C>T (p.Arg599Cys) | not provided [RCV005402399] | uncertain significance | 11 | 34096568 | 34096568 | Human | | name |
| 28887494 | CV859866 | single nucleotide variant | NM_005898.5(CAPRIN1):c.1948G>A (p.Gly650Ser) | not provided [RCV001091949] | uncertain significance | 11 | 34097243 | 34097243 | Human | | name |
| 401830897 | CV2748521 | deletion | NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs) | Juvenile myoclonic epilepsy [RCV003330170] | pathogenic | 11 | 34082964 | 34082967 | Human | 1 | name |
| 151661288 | CV1329810 | deletion | NM_005898.5(CAPRIN1):c.1493_1496del (p.Ser498fs) | CAPRIN1-related neurodevelopmental disorders [RCV001822993] | pathogenic | 11 | 34090614 | 34090617 | Human | | name , trait |
| 596938594 | CV3549646 | indel | NM_005898.5(CAPRIN1):c.1318_1319delinsTT (p.Glu440Leu) | not provided [RCV004812686] | uncertain significance | 11 | 34090203 | 34090204 | Human | | name |
| 598164397 | CV3939321 | deletion | NM_005898.5(CAPRIN1):c.1604del (p.Thr534_Leu535insTer) | not specified [RCV005307536] | pathogenic | 11 | 34091953 | 34091953 | Human | | name |