CDKL5 Variant List



   CSV explantation text


cDNA name gNomen Protein name Alternative names Domain affected Mutation type Pathogenicity class First cited reference dbSNP ID
c.458A>T g.18600065A>T p. Asp153Val catalytic domain missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.428T>A g.18600035T>A p. Ile143Asn serine-threonine kinase site missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.214_216del g.18593542_18593544del p. Ile72del catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.536C>T g.18602455C>T p. Ser179Phe catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.146-1G>A g.18593473G>A p.(=) catalytic domain splicing variant pathogenic variant 25657822, Fehr S et al (2015)
c.282+3_282+6delAAGT g.18593613_18593616delAAGT p.(=) catalytic domain intronic variant likely benign variant 25657822, Fehr S et al (2015)
c.404-3C>A g.18600008C>A p.(=) serine-threonine kinase site intronic variant variant of uncertain significance 25657822, Fehr S et al (2015)
c.65-?_99+?del g.18528940_18528974del p.(Ala23Asnfs*3) p.A23fs (deletion of exon 3) ATP binding region exonic deletion or duplication pathogenic variant 23583054, Mirzaa et al (2013)
c.404-1385_554+59del g.18598626_18602532del p.(Asp135Alafs*43) p.D135fs (deletion of exons 7 and 8) serine-threonine kinase site exonic deletion or duplication pathogenic variant 19780792, Mei et al (2010)
c.404-?_554+?del g.18600011_18602473del p.(Asp135Alafs*43) p.(D135AfsX43) (deletion of exons 7 and 8) serine-threonine kinase site exonic deletion or duplication pathogenic variant 22430159, Pini et al (2012)
c.100-?_145+?del g.18582597_18582642del p.(Glu34Lysfs*27) p.E34fs (deletion of exon 4) ATP binding region exonic deletion or duplication pathogenic variant 21293276, Bartnik et al (2011)
c.-253-?_-163+?del g.18443725_18443815del p.0? 5'UTR variation (deletion of exons 1, 1a, 1b) 5'UTR exonic deletion or duplication likely pathogenic variant 19793311, Nemos et al (2009)
c.-440G>T g.18443538G>T p.= 5'UTR variation 5'UTR 5'UTR variation variant of uncertain significance 16015284, Evans et al (2005)
c.-426C>G g.18443552C>G p.= 5'UTR variation 5'UTR 5'UTR variation benign variant 22867051, Maortua et al (2012) rs184407021
c.-391G>T g.18443587G>T p.= 5'UTR variation 5'UTR 5'UTR variation benign variant 16015284, Evans et al (2005) rs191864898
c.-265C>G g.18443713C>G p.= 5'UTR variation 5'UTR 5'UTR variation benign variant 16015284, Evans et al (2005)
c.-189C>T g.18443789C>T p.= 5'UTR variation 5'UTR 5'UTR variation variant of uncertain significance 16015284, Evans et al (2005)
c.64+26G>A g.18525306G>A p.= intronic variation ATP binding region intronic variant benign variant Roche Martinez et al (2012)
c.99+29T>G g.18529003T>G p.= intronic variation ATP binding region intronic variant variant of uncertain significance 19241098, Russo et al (2009) rs267608422
c.99+34A>G g.18529008A>G p.= intronic variation ATP binding region intronic variant benign variant 23064044, Raymond et al (2013) rs137874941
c.145+4AT[13] p.= intronic variation catalytic domain intronic variant benign variant 16015284, Evans et al (2005)
c.145+4AT[15] p.= intronic variation catalytic domain intronic variant benign variant 16015284, Evans et al (2005)
c.145+4AT(11_13) p.= intronic variation catalytic domain intronic variant benign variant 19241098, Russo et al (2009)
c.145+17A>G g.18582659A>G p.= intronic variation catalytic domain intronic variant benign variant 15499549, Tao et al (2004) rs199814742
c.[145+17A>G;3003C>T;3084G>A] g.[18582659A>G;18671574C>T;18671655G>A] p.= p.[H1001H;T1028T] catalytic domain combination/multiple mutations benign variant 15499549, Tao et al (2004)
c.216T>A g.18593544T>A p.= p.I72I catalytic domain silent benign variant 17089071, Li et al (2007) rs267608439
c.283-43G>A g.18597925G>A p.= intronic variation (IVS5-43G>A) catalytic domain intronic variant likely benign variant 16015284, Evans et al (2005) rs267608448
c.283-99C>A g.18597869C>A p.= intronic variation catalytic domain intronic variant benign variant 21775177, Intusoma et al (2011) rs4825261
c.333A>G g.18598018A>G p.= p.K111K catalytic domain silent benign variant 23064044, Raymond et al (2013)
c.403+27A>G g.18598115A>G p.= intronic variation serine-threonine kinase site intronic variant likely benign variant 22867051, Maortua et al (2012)
c.403+49_403+53delTTAAG g.18598137_18598141delTTAAG p.= intronic variation serine-threonine kinase site intronic variant likely benign variant 19734009, Nabbout et al (2009) rs267608473
c.404-53T>C g.18599958T>C p.= intronic variation serine-threonine kinase site intronic variant benign variant 19241098, Russo et al (2009)
c.[404-53T>C;3003C>T;3084G>A] g.[18599958T>C;18671574C>T;18671655G>A] p.= p.[H1001H;T1028T] serine-threonine kinase site combination/multiple mutations benign variant 19241098, Russo et al (2009)
c.405T>C g.18600012T>C p.= p.D135D serine-threonine kinase site silent benign variant 23064044, Raymond et al (2013)
c.463+22T>C g.18600092T>C p.= intronic variation (IVS7+22T>C) catalytic domain intronic variant benign variant 16015284, Evans et al (2005) rs267608478
c.464-40_464-37delCTTT g.18602343_18602346delCTTT p.= intronic variation (IVS7-40_-37del) catalytic domain intronic variant likely benign variant 16015284, Evans et al (2005) rs267608481
c.554+11G>A g.18602484G>A p.= intronic variation catalytic domain intronic variant benign variant 20397747, White et al (2010) rs267608498
c.555-19C>G g.18606055C>G p.= intronic variation (IVS8-19C>G) catalytic domain intronic variant benign variant 16611748, Archer et al (2006) rs75057928
c.573C>G g.18606092C>G p.= p.S191S catalytic domain silent benign variant 23064044, Raymond et al (2013)
c.915T>C g.18616671T>C p.= p.= silent benign variant 27187038, Záhoráková D et al (2016)
c.978-23T>C g.18621999T>C p.= intronic variation not specified intronic variant benign variant 20397747, White et al (2010) rs267608555
c.1278A>C g.18622322A>C p.= p.S426S not specified silent benign variant 20479760, Piton et al (2011) rs267608620
c.1431T>C g.18622475T>C p.= p.S477S not specified silent benign variant 23064044, Raymond et al (2013) rs143992148
c.1767C>T g.18622811C>T p.= p.H589H not specified silent benign variant 21775177, Intusoma et al (2011) rs267608645
c.2046+79G>A g.18627111G>A p.= intronic variation not specified intronic variant benign variant 19241098, Russo et al (2009) rs147819758
c.2152+48C>T g.18627738C>T p.= intronic variation (IVS14+48C>T) not specified intronic variant likely benign variant 16015284, Evans et al (2005) rs267608652
c.2376+118T>A g.18638204T>A p.= intronic variation (IVS16+118T>A) regulatory C-terminal intronic variant benign variant 16015284, Evans et al (2005) rs3752484
c.2377-31T>C g.18643217T>C p.= intronic variation regulatory C-terminal intronic variant benign variant 20397747, White et al (2010) rs267608658
c.2673G>A g.18646667G>A p.= p.Gln891Gln regulatory C-terminal silent benign variant Roche Martinez et al (2012)
c.2714-47C>T g.18664080C>T p.= intronic variation regulatory C-terminal intronic variant variant of uncertain significance Roche Martinez et al (2012)
c.2928G>A g.18668660G>A p.= p.P976P regulatory C-terminal silent benign variant 23064044, Raymond et al (2013) rs140944590
c.3003C>T g.18671574C>T p.= p.H1001H regulatory C-terminal silent benign variant 15499549, Tao et al (2004) rs36022183
c.[3003C>T;3084G>A] g.[18671574C>T;18671655G>A] p.= p.[H1001H;T1028T] regulatory C-terminal combination/multiple mutations benign variant 21160487, Hadzsiev et al (2011)
c.3084G>A g.18671655G>A p.= p.T1028T regulatory C-terminal silent benign variant 15499549, Tao et al (2004) rs139155110
c.*15C>T g.18671679C>T p.= 3'UTR variation 3'UTR 3'UTR variation variant of uncertain significance 19241098, Russo et al (2009) rs267608394
c.*130_*131delinsAT g.18671794_18671795delinsAT p.= 3'UTR variation 3'UTR 3'UTR variation benign variant 21212452, Rajaei et al (2011)
c.-253-?_-162-27968del g.18443725_18497087del p.? p.M1? (deletion of promoter and exon 1) 5'UTR exonic deletion or duplication pathogenic variant 19455595, Bahi-Buisson et al (2010)
c.-253-?_*1085del g.18443725_18672749del p.? 5'UTR 5'UTR variation pathogenic variant 25657822, Fehr S et al (2015)
c.-162-?_99+? p.? 5'UTR 5'UTR variation pathogenic variant 25657822, Fehr S et al (2015)
c.64+1G>A g.18525281G>A p.? ATP binding region intronic variant pathogenic variant 25657822, Fehr S et al (2015)
c.64+2delT g.18525282delT p.? intronic variation ATP binding region splicing variant pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608419
c.64+2T>C g.18525282T>C p.? ATP binding region intronic variant pathogenic variant 25657822, Fehr S et al (2015)
c.65-?_1944+?dup g.18528940_18622988dup p.? ATP binding region intronic variant variant of uncertain significance 25657822, Fehr S et al (2015)
c.100-?_*1085del g.18582597_18672749del p.? ATP binding region exonic deletion or duplication pathogenic variant 25657822, Fehr S et al (2015)
c.145+2T>C g.18582644T>C p.? intronic variation (predicted effect p.E49fs) catalytic domain splicing variant pathogenic variant 18063413, Pintaudi et al (2008) rs267608430
c.146-?_*1085del g.18593474_18672749del p.? p.E49fs (deletion of exons 5 to 21) catalytic domain exonic deletion or duplication pathogenic variant 21770923, Liang et al (2011)
c.146-?_463+?dup g.18593474_18600070dup p.? catalytic domain intronic variant variant of uncertain significance 25657822, Fehr S et al (2015)
c.403+1G>A g.18598089G>A p.? intronic variation serine-threonine kinase site splicing variant pathogenic variant 22982301, Zhang et al (2012)
c.404-1G>T g.18600010G>T p.? intronic variation (IVS6-1G>T) serine-threonine kinase site splicing variant pathogenic variant 16611748, Archer et al (2006) rs267608474
c.404-1G>A g.18600010G>A p.? intronic variation serine-threonine kinase site splicing variant pathogenic variant 21309761, Melani et al (2011)
c.464-1G>A g.18602382G>A p.? intronic variation catalytic domain splicing variant pathogenic variant 22670143, Willemsen et al (2012)
c.978-49_978-41del9 g.18621973_18621981del9 p.? intronic variation (IVS11-49_-41del9) not specified intronic variant likely benign variant 16611748, Archer et al (2006) rs267608554
c.978-2A>G g.18622020A>G p.? intronic variation (IVS11-2A>G) not specified splicing variant pathogenic variant 16611748, Archer et al (2006) rs267608553
c.2046+1G>A g.18627033G>A p.? intronic variation not specified splicing variant pathogenic variant 22982301, Zhang et al (2012)
c.2277-2A>G g.18637985A>G p.? p.K760? not specified splicing variant pathogenic variant 22812903, Paine et al (2012)
c.2376+1G>A g.18638087G>A p.? intronic variation (IVS16+1G>A) regulatory C-terminal splicing variant pathogenic variant 16611748, Archer et al (2006) rs267608656
c.2376+5G>A g.18638091G>A p.? intronic variation regulatory C-terminal splicing variant likely pathogenic variant 19241098, Russo et al (2009) rs267608657
c.2377-?_*1085del g.18643248_18672749del p.? p.? (deletion of exons 17 to 21) regulatory C-terminal exonic deletion or duplication pathogenic variant 21770923, Liang et al (2011)
c.2497-?_*1085del g.18646491_18672749del p.? p.S833fs (deletion of exons 18 to 21) regulatory C-terminal exonic deletion or duplication pathogenic variant 18564362, Nishimura et al (2009)
c.3032C>T g.18671603C>T p.Ala1011Val p.A1011V regulatory C-terminal missense likely benign variant 23242510, Das et al (2013)
c.364G>A g.18598049G>A p.Ala122Thr catalytic domain missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.518C>A g.18602437C>A p.Ala173Asp p.A173D catalytic domain missense likely pathogenic variant Directly submitted
c.556_557delGC g.18606075_18606076delGC p.Ala186Serfs*19 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.99+1G>T g.18528975G>T p.Ala23Asnfs*3 intronic variation (r.65_99del, exon 3 skipping) ATP binding region splicing variant pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608421
c.99+5G>A g.18528979G>A p.Ala23Asnfs*3 intronic variation (r.65_99del, exon 3 skipping) ATP binding region splicing variant pathogenic variant 20602487, Masliah-Plachon et al (2010)
c.65dupG g.18528940dupG p.Ala23Serfs*7 p.A23fs ATP binding region frameshift insertion and/or deletion pathogenic variant Directly submitted rs267608420
c.1082dupC g.18622126dupC p.Ala362Cysfs*3 p.A362CfsX3 not specified frameshift insertion and/or deletion pathogenic variant 21318334, Rademacher et al (2011) rs267608566
c.1111delC g.18622155delC p.Ala372Leufs*121 p.A372fs not specified frameshift insertion and/or deletion pathogenic variant 24564546, Zhao et al (2014)
c.119C>T g.18582616C>T p.Ala40Val p.A40V ATP binding region missense pathogenic variant 17993579, Rosas-Vargas et al (2008) rs122460159
c.1455_1460delGGCCAA g.18622499_18622504delGGCCAA p.Ala486_Lys487del p.A486_K487del not specified in-frame insertion and/or deletion likely benign variant 22867051, Maortua et al (2012)
c.1470_1471delGG g.18622514_18622515delGG p.Ala491Thrfs*3 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.3012G>T g.18671583G>T p.Arg1004Ser p.R1004S regulatory C-terminal missense likely benign variant 20479760, Piton et al (2011) rs267608667
c.400C>T g.18598085C>T p.Arg134* p.R134X serine-threonine kinase site nonsense pathogenic variant 21318334, Rademacher et al (2011) rs267608472
c.473G>C g.18602392G>C p.Arg158Pro p.R158P catalytic domain missense likely pathogenic variant 21309761, Melani et al (2011)
c.525A>T g.18602444A>T p.Arg175Ser p.R175S catalytic domain missense pathogenic variant 15499549, Tao et al (2004) rs61749700
c.533G>A g.18602452G>A p.Arg178Gln p.R178Q catalytic domain missense pathogenic variant 21770923, Liang et al (2011) rs267606715
c.533G>C g.18602452G>C p.Arg178Pro p.R178P catalytic domain missense pathogenic variant 18809835, Elia et al (2008) rs267606715
c.532C>T g.18602451C>T p.Arg178Trp p.R178W catalytic domain missense likely pathogenic variant 19793311, Nemos et al (2009) rs267608493
c.855A>C g.18616611A>C p.Arg285Ser p.R285S catalytic domain missense variant of uncertain significance Directly submitted rs267608532
c.91A>G g.18528966A>G p.Arg31Gly p.R31G ATP binding region missense pathogenic variant 23064044, Raymond et al (2013)
c.1330C>T g.18622374C>T p.Arg444Cys p.R444C not specified missense benign variant 16015284, Evans et al (2005) rs61753977
c.1432_1433insT g.18622476_18622477insT p.Arg478Metfs*17 p.R478MfsX17 not specified frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.1648C>T g.18622692C>T p.Arg550* p.R550X not specified nonsense pathogenic variant 18063413, Pintaudi et al (2008) rs267608643
c.1671dupA g.18622715dupA p.Arg558Thrfs*9 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.1675C>T g.18622719C>T p.Arg559* p.R559X not specified nonsense pathogenic variant 19161156, Sartori et al (2009) rs267608395
c.175C>T g.18593503C>T p.Arg59* p.R59X catalytic domain nonsense pathogenic variant 16611748, Archer et al (2006) rs62653623
c.194G>A g.18593522G>A p.Arg65Gln p.R65Q catalytic domain missense benign variant 17993579, Rosas-Vargas et al (2008) rs267608436
c.2343delG g.18638053delG p.Arg781Serfs*3 p.R781fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 15917271, Mari et al (2005) rs62643614
c.234delA g.18593562delA p.Arg80Valfs*33 p.R80fs catalytic domain frameshift insertion and/or deletion pathogenic variant 24564546, Zhao et al (2014)
c.2572C>T g.18646566C>T p.Arg858Cys p.R858C regulatory C-terminal missense variant of uncertain significance 23708187, Carvill et al (2013)
c.2767C>T g.18664180C>T p.Arg923Cys p.R923C regulatory C-terminal missense variant of uncertain significance 19241098, Russo et al (2009) rs267608664
c.2854C>T g.18668586C>T p.Arg952* p.R952X regulatory C-terminal nonsense benign variant 21775177, Intusoma et al (2011) rs202153551
c.2908C>T g.18668640C>T p.Arg970* p.R970X regulatory C-terminal nonsense variant of uncertain significance 19428276, Psoni et al (2010) rs267608665
c.801_802delTA g.18613524_18613525delTA p.Asn267Lysfs*5 p.N267KfsX5 (p.N267fs) catalytic domain frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608528
c.801_802delAT g.18613524_18613525delAT p.Asn267Lysfs*5 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.978-?_2980+?del g.18622022_18668712del p.Asn327Valfs*29 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.1196A>C g.18622240A>C p.Asn399Thr p.N399T not specified missense variant of uncertain significance 19253388, Sprovieri et al (2009) rs267608611
c.1382A>G g.18622426A>G p.Asn461Ser p.N461S not specified missense likely benign variant 20479760, Piton et al (2011) rs267608629
c.146-?_282+?del g.18593474_18593610del p.Asn50Tyrfs*15 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.211A>G g.18593539A>G p.Asn71Asp p.N71D catalytic domain missense likely pathogenic variant 19362436, Artuso et al (2010)
c.283-3_290del11 g.18597965_18597975del11 p.Asn95Ilefs*2 p.N95IfsX2 catalytic domain frameshift insertion and/or deletion pathogenic variant 21765152, Stalpers et al (2012)
c.404A>G g.18600011A>G p.Asp135Gly serine-threonine kinase site missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.458A>G g.18600065A>G p.Asp135_Phe154del p.D135_F154del (r.404_463del, exon 7 skipping) catalytic domain splicing variant pathogenic variant 19793311, Nemos et al (2009)
c.463+1G>A g.18600071G>A p.Asp135_Phe154del p.D135_F154del (r.404_463del, exon 7 skipping) catalytic domain splicing variant pathogenic variant 19793311, Nemos et al (2009) rs267608479
c.578A>G g.18606097A>G p.Asp193Gly p.D193G catalytic domain missense pathogenic variant 23583054, Mirzaa et al (2013) rs267608500
c.577G>C g.18606096G>C p.Asp193His catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.838_847del10 g.18616594_18616603del10 p.Asp281Thrfs*4 p.D281fs catalytic domain frameshift insertion and/or deletion pathogenic variant 15917271, Mari et al (2005) rs61750250
c.1071delC g.18622115delC p.Asp357Glufs*11 p.D357EfsX11 not specified frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.1266C>A g.18622310C>A p.Asp422Glu p.D422E not specified missense variant of uncertain significance Roche Martinez et al (2012)
c.1854delC g.18622898delC p.Asp618Glufs*3 p.D618EfsX3 not specified frameshift insertion and/or deletion pathogenic variant 22430159, Pini et al (2012)
c.2389G>A g.18643260G>A p.Asp797Asn p.D797N regulatory C-terminal missense benign variant 22867051, Maortua et al (2012)
c.377G>A g.18598062G>A p.Cys126Tyr catalytic domain missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.456_457delTG g.18600063_18600064delTG p.Cys152* catalytic domain nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.455G>T g.18600062G>T p.Cys152Phe p.C152F catalytic domain missense pathogenic variant 15499549, Tao et al (2004) rs122460157
c.595T>C g.18606114T>C p.Cys199Arg catalytic domain missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.872G>A g.18616628G>A p.Cys291Tyr p.C291Y catalytic domain missense variant of uncertain significance 18809835, Elia et al (2008) rs267606714
c.872G>A g.18616628G>A p.Cys291Tyr catalytic domain missense pathogenic variant 25657822, Fehr S et al (2015)
c.352C>T g.18598037C>T p.Gln118* p.Q118X catalytic domain nonsense pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608453
c.656A>C g.18606175A>C p.Gln219Pro p.Q219P catalytic domain missense likely pathogenic variant 23151060, Hagebeuk et al (2013)
c.670C>T g.18606189C>T p.Gln224* catalytic domain nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.867dupA g.18616623dupA p.Gln290Thrfs*36 p.Q290TfsX36 (p.Q290fs) catalytic domain frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608537
c.890_891dupTT g.18616646_18616647dupTT p.Gln298Phefs*53 p.Q298fs not specified frameshift insertion and/or deletion pathogenic variant 24564546, Zhao et al (2014)
c.1039C>T g.18622083C>T p.Gln347* p.Q347X not specified nonsense pathogenic variant 19362436, Artuso et al (2010) rs267608561
c.1039C>T g.18622083C>T p.Gln347* not specified nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.1375C>T g.18622419C>T p.Gln459* p.Q459X not specified nonsense pathogenic variant 22982301, Zhang et al (2012)
c.1390C>T g.18622434C>T p.Gln464* p.Q464X not specified nonsense pathogenic variant 23934111, Epi4K Consortium et al (2013)
c.1954C>T g.18626940C>T p.Gln652* p.Q652X not specified nonsense pathogenic variant Directly submitted rs267608647
c.2258_2259delAA g.18631377_18631378delAA p.Gln753Profs*10 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2308C>A g.18638018C>A p.Gln770Lys p.Q770K not specified missense benign variant 23064044, Raymond et al (2013)
c.2372A>C g.18638082A>C p.Gln791Pro p.Q791P regulatory C-terminal missense benign variant 15499549, Tao et al (2004) rs35478150
c.2413C>T g.18643284C>T p.Gln805* p.Q805X regulatory C-terminal nonsense pathogenic variant 23583054, Mirzaa et al (2013) rs267608659
c.2413C>T g.18643284C>T p.Gln805* regulatory C-terminal nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.2494C>T g.18643365C>T p.Gln832* p.Q832X regulatory C-terminal nonsense pathogenic variant 23647072, Veeramah et al (2013) rs17857094
c.2500C>T g.18646494C>T p.Gln834* p.Q834X regulatory C-terminal nonsense pathogenic variant 16813600, Nectoux et al (2006) rs122460158
c.[2500C>T;2995G>A] g.[18646494C>T;18671566G>A] p.Gln834* p.[Q834X;V999M] regulatory C-terminal combination/multiple mutations pathogenic variant 16813600, Nectoux et al (2006)
c.2593C>T g.18646587C>T p.Gln865* p.Q865X regulatory C-terminal nonsense pathogenic variant 23583054, Mirzaa et al (2013) rs267608663
c.2704C>T g.18646698C>T p.Gln902* p.Q902X regulatory C-terminal nonsense pathogenic variant Roche Martinez et al (2012)
c.607G>T g.18606126G>T p.Glu203* p.E203X catalytic domain nonsense pathogenic variant 21160487, Hadzsiev et al (2011) rs267608505
c.609G>C g.18606128G>C p.Glu203Asp p.E203D catalytic domain missense likely pathogenic variant 19362436, Artuso et al (2010)
c.62A>G g.18525278A>G p.Glu21Gly p.E21G ATP binding region missense pathogenic variant 23583054, Mirzaa et al (2013)
c.100-2A>G g.18582595A>G p.Glu34Lysfs*27 p.E34KfsX27 (r.100_145del, exon 4 skipping) ATP binding region splicing variant pathogenic variant 19793311, Nemos et al (2009) rs267608423
c.1090G>T g.18622134G>T p.Glu364* p.E364X not specified nonsense pathogenic variant 22430159, Pini et al (2012)
c.1247_1248del g.18622291_18622292del p.Glu416Valfs*2 p.E416VfsX2 not specified frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.146-6T>G g.18593468T>G p.Glu49Valfs*2 catalytic domain frameshift insertion and/or deletion variant of uncertain significance 25657822, Fehr S et al (2015)
c.163_166delGAAA g.18593491_18593494delGAAA p.Glu55Argfs*20 p.E55fs catalytic domain frameshift insertion and/or deletion pathogenic variant 15689447, Scala et al (2005) rs267608433
c.1708G>T g.18622752G>T p.Glu570* p.E570X not specified nonsense pathogenic variant 21160487, Hadzsiev et al (2011) rs267608644
c.2045_2046delAGins18 p.Glu682Glyfs*12 p.E682GfsX12 not specified frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008)
c.207_213del7 g.18593535_18593541del7 p.Glu70Leufs*4 p.E70Lfs*4 catalytic domain frameshift insertion and/or deletion pathogenic variant 22832775, Jahn et al (2013)
c.220G>T g.18593548G>T p.Glu74* catalytic domain nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.229_232delGAAG g.18593557_18593560delGAAG p.Glu77Hisfs*35 p.E77HfsX35 (p.E77fs) catalytic domain frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608441
c.275_276insAA g.18593603_18593604insAA p.Glu93Metfs*21 p.E93MfsX21 catalytic domain frameshift insertion and/or deletion pathogenic variant 21765152, Stalpers et al (2012)
c.464-2A>G g.18602381A>G p.Gly155Alafs*43 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.464-2A>G g.18602381A>G p.Gly155Alafs*43 p.G155fs (IVS7-2A>G) catalytic domain splicing variant pathogenic variant 16015284, Evans et al (2005) rs267608480
c.593G>A g.18606112G>A p.Gly198Asp p.G198D catalytic domain missense variant of uncertain significance Directly submitted
c.620G>A g.18606139G>A p.Gly207Glu p.G207E catalytic domain missense likely pathogenic variant 23708187, Carvill et al (2013)
c.58G>C g.18525274G>C p.Gly20Arg p.G20R ATP binding region missense likely pathogenic variant 20397747, White et al (2010) rs267608418
c.59G>A g.18525275G>A p.Gly20Asp p.G20D ATP binding region missense likely pathogenic variant 23064044, Raymond et al (2013)
c.638G>A g.18606157G>A p.Gly213Glu p.G213E catalytic domain missense likely pathogenic variant 23934111, Epi4K Consortium et al (2013)
c.678_691conNM_003159.2:c.673_683inv p.Gly228_Pro231delinsAlaProSer p.G228_P231delinsAPS catalytic domain in-frame insertion and/or deletion variant of uncertain significance 16611748, Archer et al (2006)
c.65G>T g.18528940G>T p.Gly22Val p.G22V ATP binding region missense variant of uncertain significance Directly submitted
c.1892_1893dupTA g.18622936_18622937dupTA p.Gly632* p.G632X not specified frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608646
c.2047-2A>G g.18627583A>G p.Gly683Cysfs*66 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2047-1G>A g.18627584G>A p.Gly683Valfs*101 p.G683fs (r.2047delG) not specified splicing variant pathogenic variant 15492925, Weaving et al (2004) rs267608650
c.248G>T g.18593576G>T p.Gly83Val p.G83V catalytic domain missense variant of uncertain significance Directly submitted
c.380A>G g.18598065A>G p.His127Arg p.H127R serine-threonine kinase site missense likely pathogenic variant 19241098, Russo et al (2009) rs267608468
c.379C>T g.18598064C>T p.His127Tyr p.H127Y serine-threonine kinase site missense likely pathogenic variant 23934111, Epi4K Consortium et al (2013)
c.433C>T g.18600040C>T p.His145Tyr p.H145Y serine-threonine kinase site missense variant of uncertain significance 23708187, Carvill et al (2013)
c.1400A>G g.18622444A>G p.His467Arg p.H467R not specified missense likely benign variant 16015284, Evans et al (2005)
c.1400A>C g.18622444A>C p.His467Pro p.H467P not specified missense variant of uncertain significance 21770923, Liang et al (2011) rs267608631
c.1741C>T g.18622785C>T p.His581Tyr p.H581Y not specified missense variant of uncertain significance 23708187, Carvill et al (2013)
c.2105_2106delAC g.18627643_18627644delAC p.His702Profs*4 p.H702PfsX4 not specified frameshift insertion and/or deletion pathogenic variant 21765152, Stalpers et al (2012)
c.2531dupA g.18646525dupA p.His844Glnfs*66 p.H844QfsX66 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.2530delC g.18646524delC p.His844Ilefs*19 p.H844IfsX19, p.H844fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant Directly submitted
c.1417dupA g.18622461dupA p.Ile473Asnfs*6 p.I473NfsX6 not specified frameshift insertion and/or deletion pathogenic variant Roche Martinez et al (2012)
c.1523T>C g.18622567T>C p.Ile508Thr p.I508T not specified missense variant of uncertain significance 20479760, Piton et al (2011) rs201893287
c.1892T>C g.18622936T>C p.Ile631Thr p.I631T not specified missense likely benign variant 19793311, Nemos et al (2009) rs144878564
c.215T>A g.18593543T>A p.Ile72Asn p.I72N catalytic domain missense pathogenic variant 16015284, Evans et al (2005) rs62641235
c.214_216del g.18593542_18593544del p.Ile72del p.I72del catalytic domain in-frame insertion and/or deletion likely pathogenic variant 23064044, Raymond et al (2013)
c.215T>C g.18593543T>C p.Ile72Thr p.I72T catalytic domain missense likely pathogenic variant 19396824, Saletti et al (2009) rs62641235
c.215T>C g.18593543T>C p.Ile72Thr catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.425T>A g.18600032T>A p.Leu142* p.L142X serine-threonine kinase site nonsense pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608477
c.545T>C g.18602464T>C p.Leu182Pro p.L182P catalytic domain missense likely pathogenic variant 23708187, Carvill et al (2013)
c.549dupA g.18602468dupA p.Leu184Thrfs*22 p.L184fs catalytic domain frameshift insertion and/or deletion pathogenic variant 23828526, Ermel et al (2013)
c.659T>C g.18606178T>C p.Leu220Pro p.L220P catalytic domain missense pathogenic variant 17993579, Rosas-Vargas et al (2008) rs267608511
c.680T>G g.18606199T>G p.Leu227Arg p.L227R catalytic domain missense likely pathogenic variant 19793311, Nemos et al (2009) rs267608515
c.812T>C g.18613535T>C p.Leu271Pro p.L271P catalytic domain missense likely pathogenic variant 22264704, Moseley et al (2012)
c.859_868del10 g.18616615_18616624del10 p.Leu287Serfs*3 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.902_903dupGA g.18616658_18616659dupGA p.Leu302Aspfs*49 p.L302DfsX49 not specified frameshift insertion and/or deletion pathogenic variant 19241098, Russo et al (2009) rs267608546
c.904C>T g.18616660C>T p.Leu302Phe p.L302F not specified missense variant of uncertain significance 21770923, Liang et al (2011) rs267608547
c.1079delT g.18622123delT p.Leu360Profs*8 p.L360PfsX8 not specified frameshift insertion and/or deletion pathogenic variant 21770923, Liang et al (2011) rs267608565
c.1371dupA g.18622415dupA p.Leu458Thrfs*5 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.1784dupG g.18622828dupG p.Leu596Thrfs*15 p.L596TfsX15 not specified frameshift insertion and/or deletion pathogenic variant 21765152, Stalpers et al (2012)
c.1925delT g.18622969delT p.Leu642Argfs*16 p.L642fs not specified frameshift insertion and/or deletion pathogenic variant 23708187, Carvill et al (2013)
c.191T>C g.18593519T>C p.Leu64Pro p.L64P catalytic domain missense likely pathogenic variant 19564592, Fichou et al (2009) rs267608435
c.199C>T g.18593527C>T p.Leu67Phe p.L67F catalytic domain missense variant of uncertain significance Directly submitted rs267608437
c.2529delA g.18646523delA p.Leu843Phefs*20 p.L843FfsX20 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 21318334, Rademacher et al (2011) rs267608661
c.2635_2636delCT g.18646629_18646630delCT p.Leu879Glufs*30 p.L879fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 15689447, Scala et al (2005) rs61753251
c.942delA g.18616698delA p.Lys314Asnfs*36 p.K314Nfs*36 not specified frameshift insertion and/or deletion pathogenic variant 22430159, Pini et al (2012)
c.100-9_100-3delCCCTTGCinsGCAGA g.18582588_18582594delinsGCAGA p.Lys33dup ATP binding region missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.1030_1031insGAC g.18622074_18622075insGAC p.Lys344delinsArgGln not specified exonic deletion or duplication variant of uncertain significance 25657822, Fehr S et al (2015)
c.125A>G g.18582622A>G p.Lys42Arg p.K42R ATP binding region missense pathogenic variant Directly submitted rs267608429
c.2038A>T g.18627024A>T p.Lys680* not specified nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.2376+1G>C g.18638087G>C p.Lys760Tyrfs*10 p.K760fs (IVS16+1G>C) regulatory C-terminal splicing variant pathogenic variant 16015284, Evans et al (2005) rs267608656
c.2325_2326delGA g.18638035_18638036delGA p.Lys776Alafs*24 p.K776AfsX24 not specified frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608654
c.2360delA g.18638070delA p.Lys787Argfs*16 p.K787fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 24564546, Zhao et al (2014)
c.2363_2367delAGAAA g.18638073_18638077delAGAAA p.Lys788Ilefs*11 p.K788fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 16611748, Archer et al (2006) rs267608655
c.-253-?_99+?del g.18443725_18528974del p.Met1? p.M1? (deletion of exons 1 to 3) 5'UTR exonic deletion or duplication pathogenic variant 19471977, Erez et al (2009)
c.-253-?_*1085del g.18443725_18672749del p.Met1? p.M1? (whole gene deletion) 5'UTR exonic deletion or duplication pathogenic variant 19780792, Mei et al (2010)
c.-253-?_825+?del g.18443725_18613548del p.Met1? p.M1? (deletion of exons 1 to 10) 5'UTR exonic deletion or duplication pathogenic variant 19780792, Mei et al (2010)
c.-253-?_977+?del g.18443725_18616733del p.Met1? p.M1? (deletion of exons 1 to 11) 5'UTR exonic deletion or duplication pathogenic variant 17256798, Van Esch et al (2007)
c.-253-?_64+?del g.18443725_18525280del p.Met1? p.M1? (deletion of exons 1 to 2) 5'UTR exonic deletion or duplication pathogenic variant Roche Martinez et al (2012)
c.-162-?_145+?del g.18525055_18582642del p.Met1? p.M1? (deletion of exons 1a to 4) 5'UTR exonic deletion or duplication pathogenic variant 19471977, Erez et al (2009)
c.-162-?_99+?del g.18525055_18528974del p.Met1? p.M1? (deletion of exons 2 and 3) 5'UTR exonic deletion or duplication pathogenic variant 19241098, Russo et al (2009)
c.-162-?_*1085del g.18525055_18672749del p.Met1? p.M1? (deletion of exons 2 to 21) 5'UTR exonic deletion or duplication pathogenic variant 19780792, Mei et al (2010)
c.-162-?_64+?del g.18525055_18525280del p.Met1? p.M1? (exon 2 deletion) 5'UTR exonic deletion or duplication pathogenic variant 22832775, Jahn et al (2013)
c.-162-2A>G g.18525053A>G p.Met1? p.M1? (r.-162_64del, exon 2 skipping) 5'UTR splicing variant pathogenic variant 19793311, Nemos et al (2009)
c.183delT p.Met63Cysfs*13 p.M63fs catalytic domain frameshift insertion and/or deletion pathogenic variant 15492925, Weaving et al (2004) rs62643608
c.39delT g.18525255delT p.Phe13Leufs*7 p.F13LfsX7 N-terminal frameshift insertion and/or deletion pathogenic variant 21770923, Liang et al (2011) rs267608415
c.38T>C g.18525254T>C p.Phe13Ser N-terminal missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.745-?_2276+?del g.18613468_18631395del p.Phe249Glufs*4 p.F249fs catalytic domain exonic deletion or duplication pathogenic variant 22264704, Moseley et al (2012)
c.745-?_977+?del g.18613468_18616733del p.Phe249Lysfs*16 catalytic domain frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.745-2A>G g.18613466A>G p.Phe249_Lys275del catalytic domain splicing variant pathogenic variant 25657822, Fehr S et al (2015)
c.745-?_825+?del g.18613468_18613548del p.Phe249_Lys275del p.F249_K275del (exon 10 deletion) catalytic domain exonic deletion or duplication pathogenic variant 22867051, Maortua et al (2012)
c.825+1G>A g.18613549G>A p.Phe249_Lys275del catalytic domain splicing variant pathogenic variant 25657822, Fehr S et al (2015)
c.825+1G>T g.18613549G>T p.Phe249_Lys275del catalytic domain splicing variant pathogenic variant 25657822, Fehr S et al (2015)
c.1341delC g.18622385delC p.Phe447Leufs*46 p.F447Lfs*46 not specified frameshift insertion and/or deletion pathogenic variant Roche Martinez et al (2012)
c.1550delT g.18622594delT p.Phe517Serfs*6 p.F517SfsX6 not specified frameshift insertion and/or deletion pathogenic variant Roche Martinez et al (2012)
c.2984T>G g.18671555T>G p.Phe995Cys p.F995C regulatory C-terminal missense likely benign variant 20479760, Piton et al (2011) rs267608666
c.539C>T g.18602458C>T p.Pro180Leu p.P180L catalytic domain missense pathogenic variant 16611748, Archer et al (2006) rs61749704
c.884delC g.18616640delC p.Pro295Leufs*55 p.P295LfsX55 catalytic domain frameshift insertion and/or deletion pathogenic variant 21318334, Rademacher et al (2011) rs267608542
c.2066delC g.18627604delC p.Pro689Hisfs*95 p.P689fs not specified frameshift insertion and/or deletion pathogenic variant 19780792, Mei et al (2010) rs267608651
c.2504delC g.18646498delC p.Pro835Hisfs*2 p.P835fs regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 20397747, White et al (2010) rs267608660
c.2684C>T g.18646678C>T p.Pro895Leu regulatory C-terminal missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.2711delC g.18646705delC p.Pro904Glnfs*23 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2830C>A g.18668562C>A p.Pro944Thr p.P944T regulatory C-terminal missense likely benign variant 23756444, Diebold et al (2014) rs200236257
c.2927C>T g.18668659C>T p.Pro976Leu p.P976L regulatory C-terminal missense likely benign variant Roche Martinez et al (2012)
c.587C>T g.18606106C>T p.Ser196Leu p.S196L catalytic domain missense likely pathogenic variant 20397747, White et al (2010) rs267608501
c.1008_1029del22 g.18622052_18622073del22 p.Ser337Argfs*6 p.S337RfsX6 not specified frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.1238C>G g.18622282C>G p.Ser413* p.S413X not specified nonsense pathogenic variant 21770923, Liang et al (2011) rs267608618
c.1311dupC g.18622355dupC p.Ser438Glnfs*25 p.S438QfsX25 (p.S438fs) not specified frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608623
c.2016dupC g.18627002dupC p.Ser673Leufs*10 p.S673LfsX10 not specified frameshift insertion and/or deletion pathogenic variant 21770923, Liang et al (2011) rs267608649
c.2016delC g.18627002delC p.Ser673Leufs*111 p.S673LfsX111 not specified frameshift insertion and/or deletion pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608648
c.2072_2073delCT g.18627610_18627611delCT p.Ser691* not specified nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.2420_2430del g.18643291_18643301del p.Ser807Cysfs*2 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2420_2430del g.18643291_18643301del p.Ser807Cysfs*2 p.S807CfsX2 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant Directly submitted
c.2477-?_2713+?del g.18643348_18646707del p.Ser833Thrfs*22 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2497-289_2713+3834del4342 g.18646202_18650541del4342 p.Ser833Thrfs*22 p.S833fs (deletion of exon 18) regulatory C-terminal exonic deletion or duplication pathogenic variant 24715584, Boutry-Kryza et al (2014)
c.2564C>G g.18646558C>G p.Ser855* p.S855X regulatory C-terminal nonsense pathogenic variant 23708187, Carvill et al (2013)
c.2497-?_2713+?del g.18646491_18646707del p.Ser855Thrfs*22 p.S855fs (deletion of exon 18) regulatory C-terminal exonic deletion or duplication pathogenic variant Directly submitted
c.506_507delCA g.18602425_18602426delCA p.Thr168Argfs*36 TEY phosphorylation site frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.506_507delCA g.18602425_18602426delCA p.Thr169Argfs*36 p.T169RfsX36 TEY phosphorylation site frameshift insertion and/or deletion pathogenic variant 23064044, Raymond et al (2013)
c.660_664dup g.18606179_18606183dup p.Thr222Ilefs*8 p.T222IfsX8 catalytic domain frameshift insertion and/or deletion pathogenic variant 23151060, Hagebeuk et al (2013)
c.863C>T g.18616619C>T p.Thr288Ile p.T288I catalytic domain missense pathogenic variant 18809835, Elia et al (2008) rs267606713
c.964dupA g.18616720dupA p.Thr322Asnfs*4 p.T322fs not specified frameshift insertion and/or deletion pathogenic variant 19780792, Mei et al (2010) rs267608552
c.1581del g.18622625del p.Thr528Profs*44 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.1612A>G g.18622656A>G p.Thr538Ala p.T538A not specified missense variant of uncertain significance Directly submitted
c.1612A>G g.18622656A>G p.Thr538Ala not specified missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.1684A>G g.18622728A>G p.Thr562Ala p.T562A missense variant of uncertain significance Directly submitted
c.2200A>G g.18631319A>G p.Thr734Ala p.T734A not specified missense variant of uncertain significance 23242510, Das et al (2013) rs55803460
c.2374dupA g.18638084dupA p.Thr792Asnfs*9 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.526T>C g.18602445T>C p.Trp176Arg catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.528G>T g.18602447G>T p.Trp176Cys p.W176C catalytic domain missense pathogenic variant Roche Martinez et al (2012)
c.526T>G g.18602445T>G p.Trp176Gly p.W176G catalytic domain missense pathogenic variant 23064044, Raymond et al (2013)
c.351T>A g.18598036T>A p.Tyr117* catalytic domain nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.513C>A g.18602432C>A p.Tyr171* p.Y171X catalytic domain nonsense pathogenic variant 23583054, Mirzaa et al (2013) rs267608490
c.510_511dup g.18602429_18602430dup p.Tyr171Cysfs*58 p.Y171Cfs*58 TEY phosphorylation site frameshift insertion and/or deletion pathogenic variant 22867051, Maortua et al (2012)
c.857dupA g.18616613dupA p.Tyr286* catalytic domain nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.1446delC g.18622490delC p.Tyr482* not specified nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.1547_1554del8 g.18622591_18622598del8 p.Tyr516Phefs*2 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.1782T>G g.18622826T>G p.Tyr594* not specified nonsense pathogenic variant 25657822, Fehr S et al (2015)
c.1790dupG g.18622834dupG p.Tyr598Leufs*13 p.Y598fs not specified frameshift insertion and/or deletion pathogenic variant 24564546, Zhao et al (2014)
c.1791delC g.18622835delC p.Tyr598Thrfs*18 not specified frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.395T>G g.18598080T>G p.Val132Gly p.V132G serine-threonine kinase site missense likely pathogenic variant 19362436, Artuso et al (2010)
c.395T>G g.18598080T>G p.Val132Gly serine-threonine kinase site missense variant of uncertain significance 25657822, Fehr S et al (2015)
c.514G>A g.18602433G>A p.Val172Ile catalytic domain missense likely pathogenic variant 25657822, Fehr S et al (2015)
c.2152G>A g.18627690G>A p.Val718Met p.V718M not specified missense likely pathogenic variant 18790821, Bahi-Buisson et al (2008) rs267608653
c.2276+1G>A g.18631396G>A p.Val718_Trp759delinsGly regulatory C-terminal splicing variant pathogenic variant 25657822, Fehr S et al (2015)
c.2378T>C g.18643249T>C p.Val793Ala p.V793A regulatory C-terminal missense variant of uncertain significance 16611748, Archer et al (2006) rs62643617
c.2377-8T>A g.18643240T>A p.Val793Leufs*2 regulatory C-terminal frameshift insertion and/or deletion pathogenic variant 25657822, Fehr S et al (2015)
c.2377-1569_2497-285delins38 p.Val793Thrfs*22 p.V793fs (deletion of exon 17, leading to skipping regulatory C-terminal exonic deletion or duplication pathogenic variant 24715584, Boutry-Kryza et al (2014)
c.2896G>A g.18668628G>A p.Val966Ile p.V966I regulatory C-terminal missense likely benign variant 23242510, Das et al (2013)
c.2995G>A g.18671566G>A p.Val999Met p.V999M regulatory C-terminal missense benign variant 16813600, Nectoux et al (2006) rs35693326
c.[1767C>T(;)2995G>A] g.[18622811C>T;18671566G>A] p.[=(;)Val999Met] p.[H589H(;)V999M] not specified combination/multiple mutations benign variant 23242510, Das et al (2013)
c.[=/518C>A] p.[=/Ala173Asp] p.[=/A173D] catalytic domain missense likely pathogenic variant Directly submitted
c.[=/99+5G>A] p.[=/Ala23Asnfs*3] intronic variation (r.65_99del, exon 3 skipping) ATP binding region splicing variant pathogenic variant 20602487, Masliah-Plachon et al (2010)
c.[=/-253-?_99+?del] p.[=/Met1?] p.[=/M1?] 5'UTR exonic deletion or duplication pathogenic variant 21293276, Bartnik et al (2011)
c.[=/-253-?_2276+?del] p.[=/Met1?] p.[=/M1?] 5'UTR exonic deletion or duplication pathogenic variant 21293276, Bartnik et al (2011)
c.[=/2420_2430del] p.[=/Ser807Cysfs*2] p.[=/S807CfsX2] regulatory C-terminal frameshift insertion and/or deletion pathogenic variant Directly submitted
c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342] p.[=/Val793Thrfs*22/Ser833Thrfs*22] p.[=/Val793fs/Ser833fs], p.[=/V793fs/S833fs] regulatory C-terminal combination/multiple mutations pathogenic variant 24715584, Boutry-Kryza et al (2014)
c.[1675C>T];[=] p.[Arg559*];[=] p.[R559X];[=] not specified nonsense pathogenic variant 19161156, Sartori et al (2009)
c.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] p.[Q791P];[Q791P] regulatory C-terminal missense benign variant Directly submitted rs35478150
c.[1238C>G(;)1400A>C] g.[18622282C>G;18622444A>C] p.[Ser413*(;)His467Pro] p.[S413X;H467P] not specified combination/multiple mutations pathogenic variant 21770923, Liang et al (2011)

Displaying 312 entries


To limit/filter the variants shown in this table, please go to the variants search page.