CDKL5 Variant List
cDNA name | gNomen | Protein name | Alternative names | Domain affected | Mutation type | Pathogenicity class | First cited reference | dbSNP ID |
---|---|---|---|---|---|---|---|---|
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.-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-?_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-?_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.-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-?_-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.-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.-253-?_*1085del | g.18443725_18672749del | p.? | 5'UTR | 5'UTR variation | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.-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-?_99+? | p.? | 5'UTR | 5'UTR variation | pathogenic variant | 25657822, Fehr S et al (2015) | |||
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.38T>C | g.18525254T>C | p.Phe13Ser | N-terminal | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.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.62A>G | g.18525278A>G | p.Glu21Gly | p.E21G | ATP binding region | missense | pathogenic variant | 23583054, Mirzaa et al (2013) | |
c.64+26G>A | g.18525306G>A | p.= | intronic variation | ATP binding region | intronic variant | benign variant | Roche Martinez et al (2012) | |
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-?_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.65dupG | g.18528940dupG | p.Ala23Serfs*7 | p.A23fs | ATP binding region | frameshift insertion and/or deletion | pathogenic variant | Directly submitted | rs267608420 |
c.65G>T | g.18528940G>T | p.Gly22Val | p.G22V | ATP binding region | missense | variant of uncertain significance | Directly submitted | |
c.65-?_1944+?dup | g.18528940_18622988dup | p.? | ATP binding region | intronic variant | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
c.91A>G | g.18528966A>G | p.Arg31Gly | p.R31G | ATP binding region | missense | pathogenic variant | 23064044, Raymond et al (2013) | |
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.[=/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.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.100-9_100-3delCCCTTGCinsGCAGA | g.18582588_18582594delinsGCAGA | p.Lys33dup | ATP binding region | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.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.100-?_*1085del | g.18582597_18672749del | p.? | ATP binding region | exonic deletion or duplication | pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.119C>T | g.18582616C>T | p.Ala40Val | p.A40V | ATP binding region | missense | pathogenic variant | 17993579, Rosas-Vargas et al (2008) | rs122460159 |
c.125A>G | g.18582622A>G | p.Lys42Arg | p.K42R | ATP binding region | missense | pathogenic variant | Directly submitted | rs267608429 |
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.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.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.146-1G>A | g.18593473G>A | p.(=) | catalytic domain | splicing variant | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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-?_282+?del | g.18593474_18593610del | p.Asn50Tyrfs*15 | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.146-?_463+?dup | g.18593474_18600070dup | p.? | catalytic domain | intronic variant | 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.175C>T | g.18593503C>T | p.Arg59* | p.R59X | catalytic domain | nonsense | pathogenic variant | 16611748, Archer et al (2006) | rs62653623 |
c.183delT | p.Met63Cysfs*13 | p.M63fs | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 15492925, Weaving et al (2004) | rs62643608 | |
c.191T>C | g.18593519T>C | p.Leu64Pro | p.L64P | catalytic domain | missense | likely pathogenic variant | 19564592, Fichou et al (2009) | rs267608435 |
c.194G>A | g.18593522G>A | p.Arg65Gln | p.R65Q | catalytic domain | missense | benign variant | 17993579, Rosas-Vargas et al (2008) | rs267608436 |
c.197_198delCT | g.18593525_18593526delCT | p.Leu67Glnfs*23 | p.L67QfsX23 | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 27734276, Gokben, S. et al (2017) | |
c.199C>T | g.18593527C>T | p.Leu67Phe | p.L67F | catalytic domain | missense | variant of uncertain significance | Directly submitted | rs267608437 |
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.211A>G | g.18593539A>G | p.Asn71Asp | p.N71D | catalytic domain | missense | likely pathogenic variant | 19362436, Artuso et al (2010) | |
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.214_216del | g.18593542_18593544del | p. Ile72del | catalytic domain | missense | likely pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.215T>A | g.18593543T>A | p.Ile72Asn | p.I72N | catalytic domain | missense | pathogenic variant | 16015284, Evans et al (2005) | rs62641235 |
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.216T>A | g.18593544T>A | p.= | p.I72I | catalytic domain | silent | benign variant | 17089071, Li et al (2007) | rs267608439 |
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.234delA | g.18593562delA | p.Arg80Valfs*33 | p.R80fs | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 24564546, Zhao et al (2014) | |
c.248G>T | g.18593576G>T | p.Gly83Val | p.G83V | catalytic domain | missense | variant of uncertain significance | Directly submitted | |
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.282+3_282+6delAAGT | g.18593613_18593616delAAGT | p.(=) | catalytic domain | intronic variant | likely benign variant | 25657822, Fehr S et al (2015) | ||
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.283-3_290del11 | g.18597965_18597975del11 | p.Asn95Ilefs*2 | p.N95IfsX2 | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 21765152, Stalpers et al (2012) | |
c.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.351T>A | g.18598036T>A | p.Tyr117* | catalytic domain | nonsense | 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.364G>A | g.18598049G>A | p.Ala122Thr | catalytic domain | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
c.377G>A | g.18598062G>A | p.Cys126Tyr | catalytic domain | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.380A>G | g.18598065A>G | p.His127Arg | p.H127R | serine-threonine kinase site | missense | likely pathogenic variant | 19241098, Russo et al (2009) | rs267608468 |
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.400C>T | g.18598085C>T | p.Arg134* | p.R134X | serine-threonine kinase site | nonsense | pathogenic variant | 21318334, Rademacher et al (2011) | rs267608472 |
c.403+1G>A | g.18598089G>A | p.? | intronic variation | serine-threonine kinase site | splicing variant | pathogenic variant | 22982301, Zhang et al (2012) | |
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.404-1385_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.404-53T>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.404-3C>A | g.18600008C>A | p.(=) | serine-threonine kinase site | intronic variant | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.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.404A>G | g.18600011A>G | p.Asp135Gly | serine-threonine kinase site | missense | likely pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.405T>C | g.18600012T>C | p.= | p.D135D | serine-threonine kinase site | silent | benign variant | 23064044, Raymond et al (2013) | |
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.428T>A | g.18600035T>A | p. Ile143Asn | serine-threonine kinase site | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.455G>T | g.18600062G>T | p.Cys152Phe | p.C152F | catalytic domain | missense | pathogenic variant | 15499549, Tao et al (2004) | rs122460157 |
c.456_457delTG | g.18600063_18600064delTG | p.Cys152* | catalytic domain | nonsense | 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.458A>T | g.18600065A>T | p. Asp153Val | catalytic domain | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.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.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.464-1G>A | g.18602382G>A | p.? | intronic variation | catalytic domain | splicing variant | pathogenic variant | 22670143, Willemsen et al (2012) | |
c.473G>C | g.18602392G>C | p.Arg158Pro | p.R158P | catalytic domain | missense | likely pathogenic variant | 21309761, Melani et al (2011) | |
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.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.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.513C>A | g.18602432C>A | p.Tyr171* | p.Y171X | catalytic domain | nonsense | pathogenic variant | 23583054, Mirzaa et al (2013) | rs267608490 |
c.514G>A | g.18602433G>A | p.Val172Ile | catalytic domain | missense | likely pathogenic variant | 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.[=/518C>A] | p.[=/Ala173Asp] | p.[=/A173D] | catalytic domain | missense | likely pathogenic variant | Directly submitted | ||
c.525A>T | g.18602444A>T | p.Arg175Ser | p.R175S | catalytic domain | missense | pathogenic variant | 15499549, Tao et al (2004) | rs61749700 |
c.526T>G | g.18602445T>G | p.Trp176Gly | p.W176G | catalytic domain | missense | pathogenic variant | 23064044, Raymond et al (2013) | |
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.530A>G | g.18602449A>G | p.Tyr177Cys | catalytic domain | missense | variant of uncertain significance | 27265524, Christianto, A. et al (2016) | ||
c.532C>T | g.18602451C>T | p.Arg178Trp | p.R178W | catalytic domain | missense | likely pathogenic variant | 19793311, Nemos et al (2009) | rs267608493 |
c.533G>C | g.18602452G>C | p.Arg178Pro | p.R178P | catalytic domain | missense | pathogenic variant | 18809835, Elia et al (2008) | rs267606715 |
c.533G>A | g.18602452G>A | p.Arg178Gln | p.R178Q | catalytic domain | missense | pathogenic variant | 21770923, Liang et al (2011) | rs267606715 |
c.536C>T | g.18602455C>T | p. Ser179Phe | catalytic domain | missense | likely pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.539C>T | g.18602458C>T | p.Pro180Leu | p.P180L | catalytic domain | missense | pathogenic variant | 16611748, Archer et al (2006) | rs61749704 |
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.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.556_557delGC | g.18606075_18606076delGC | p.Ala186Serfs*19 | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.573C>G | g.18606092C>G | p.= | p.S191S | catalytic domain | silent | benign variant | 23064044, Raymond et al (2013) | |
c.577G>C | g.18606096G>C | p.Asp193His | catalytic domain | missense | likely pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.578A>G | g.18606097A>G | p.Asp193Gly | p.D193G | catalytic domain | missense | pathogenic variant | 23583054, Mirzaa et al (2013) | rs267608500 |
c.587C>T | g.18606106C>T | p.Ser196Leu | p.S196L | catalytic domain | missense | likely pathogenic variant | 20397747, White et al (2010) | rs267608501 |
c.593G>A | g.18606112G>A | p.Gly198Asp | p.G198D | catalytic domain | missense | variant of uncertain significance | Directly submitted | |
c.595T>C | g.18606114T>C | p.Cys199Arg | catalytic domain | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.620G>A | g.18606139G>A | p.Gly207Glu | p.G207E | catalytic domain | missense | likely pathogenic variant | 23708187, Carvill 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.656A>C | g.18606175A>C | p.Gln219Pro | p.Q219P | catalytic domain | missense | likely pathogenic variant | 23151060, Hagebeuk 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.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.670C>T | g.18606189C>T | p.Gln224* | catalytic domain | nonsense | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.680T>G | g.18606199T>G | p.Leu227Arg | p.L227R | catalytic domain | missense | likely pathogenic variant | 19793311, Nemos et al (2009) | rs267608515 |
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.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.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.812T>C | g.18613535T>C | p.Leu271Pro | p.L271P | catalytic domain | missense | likely pathogenic variant | 22264704, Moseley 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.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.855A>C | g.18616611A>C | p.Arg285Ser | p.R285S | catalytic domain | missense | variant of uncertain significance | Directly submitted | rs267608532 |
c.857dupA | g.18616613dupA | p.Tyr286* | catalytic domain | nonsense | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.863C>T | g.18616619C>T | p.Thr288Ile | p.T288I | catalytic domain | missense | pathogenic variant | 18809835, Elia et al (2008) | rs267606713 |
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.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.884delC | g.18616640delC | p.Pro295Leufs*55 | p.P295LfsX55 | catalytic domain | frameshift insertion and/or deletion | pathogenic variant | 21318334, Rademacher et al (2011) | rs267608542 |
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.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.915T>C | g.18616671T>C | p.= | p.= | silent | benign variant | 27187038, Zahorakova D et al (2016) | ||
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.964dupA | g.18616720dupA | p.Thr322Asnfs*4 | p.T322fs | not specified | frameshift insertion and/or deletion | pathogenic variant | 19780792, Mei et al (2010) | rs267608552 |
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.978-23T>C | g.18621999T>C | p.= | intronic variation | not specified | intronic variant | benign variant | 20397747, White et al (2010) | rs267608555 |
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.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.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.1030_1031insGAC | g.18622074_18622075insGAC | p.Lys344delinsArgGln | not specified | exonic deletion or duplication | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
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.1071delC | g.18622115delC | p.Asp357Glufs*11 | p.D357EfsX11 | not specified | frameshift insertion and/or deletion | pathogenic variant | 23064044, Raymond et al (2013) | |
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.1082dupC | g.18622126dupC | p.Ala362Cysfs*3 | p.A362CfsX3 | not specified | frameshift insertion and/or deletion | pathogenic variant | 21318334, Rademacher et al (2011) | rs267608566 |
c.1090G>T | g.18622134G>T | p.Glu364* | p.E364X | not specified | nonsense | pathogenic variant | 22430159, Pini et al (2012) | |
c.1111delC | g.18622155delC | p.Ala372Leufs*121 | p.A372fs | not specified | frameshift insertion and/or deletion | pathogenic variant | 24564546, Zhao et al (2014) | |
c.1196A>C | g.18622240A>C | p.Asn399Thr | p.N399T | not specified | missense | variant of uncertain significance | 19253388, Sprovieri et al (2009) | rs267608611 |
c.1238C>G | g.18622282C>G | p.Ser413* | p.S413X | not specified | nonsense | pathogenic variant | 21770923, Liang et al (2011) | rs267608618 |
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) | |
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.1266C>A | g.18622310C>A | p.Asp422Glu | p.D422E | not specified | missense | variant of uncertain significance | Roche Martinez et al (2012) | |
c.1278A>C | g.18622322A>C | p.= | p.S426S | not specified | silent | benign variant | 20479760, Piton et al (2011) | rs267608620 |
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.1330C>T | g.18622374C>T | p.Arg444Cys | p.R444C | not specified | missense | benign variant | 16015284, Evans et al (2005) | rs61753977 |
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.1371dupA | g.18622415dupA | p.Leu458Thrfs*5 | not specified | frameshift insertion and/or deletion | 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.1382A>G | g.18622426A>G | p.Asn461Ser | p.N461S | not specified | missense | likely benign variant | 20479760, Piton et al (2011) | rs267608629 |
c.1390C>T | g.18622434C>T | p.Gln464* | p.Q464X | not specified | nonsense | pathogenic variant | 23934111, Epi4K Consortium 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.1417dupA | g.18622461dupA | p.Ile473Asnfs*6 | p.I473NfsX6 | not specified | frameshift insertion and/or deletion | pathogenic variant | Roche Martinez et al (2012) | |
c.1431T>C | g.18622475T>C | p.= | p.S477S | not specified | silent | benign variant | 23064044, Raymond et al (2013) | rs143992148 |
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.1446delC | g.18622490delC | p.Tyr482* | not specified | nonsense | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.1523T>C | g.18622567T>C | p.Ile508Thr | p.I508T | not specified | missense | variant of uncertain significance | 20479760, Piton et al (2011) | rs201893287 |
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.1550delT | g.18622594delT | p.Phe517Serfs*6 | p.F517SfsX6 | not specified | frameshift insertion and/or deletion | pathogenic variant | Roche Martinez et al (2012) | |
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.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.[1675C>T];[=] | p.[Arg559*];[=] | p.[R559X];[=] | not specified | nonsense | pathogenic variant | 19161156, Sartori et al (2009) | ||
c.1684A>G | g.18622728A>G | p.Thr562Ala | p.T562A | missense | variant of uncertain significance | Directly submitted | ||
c.1708G>T | g.18622752G>T | p.Glu570* | p.E570X | not specified | nonsense | pathogenic variant | 21160487, Hadzsiev et al (2011) | rs267608644 |
c.1741C>T | g.18622785C>T | p.His581Tyr | p.H581Y | not specified | missense | variant of uncertain significance | 23708187, Carvill et al (2013) | |
c.1767C>T | g.18622811C>T | p.= | p.H589H | not specified | silent | benign variant | 21775177, Intusoma et al (2011) | rs267608645 |
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.1782T>G | g.18622826T>G | p.Tyr594* | not specified | nonsense | 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.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.1854delC | g.18622898delC | p.Asp618Glufs*3 | p.D618EfsX3 | not specified | frameshift insertion and/or deletion | pathogenic variant | 22430159, Pini et al (2012) | |
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.1892T>C | g.18622936T>C | p.Ile631Thr | p.I631T | not specified | missense | likely benign variant | 19793311, Nemos et al (2009) | rs144878564 |
c.1925delT | g.18622969delT | p.Leu642Argfs*16 | p.L642fs | not specified | frameshift insertion and/or deletion | pathogenic variant | 23708187, Carvill et al (2013) | |
c.1942C>T | g.18622986C>T | p.Gln648* | p.G648X | not specified | nonsense | pathogenic variant | 27290639, Pronicka E et al (2016) | |
c.1954C>T | g.18626940C>T | p.Gln652* | p.Q652X | not specified | nonsense | pathogenic variant | Directly submitted | rs267608647 |
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.2016dupC | g.18627002dupC | p.Ser673Leufs*10 | p.S673LfsX10 | not specified | frameshift insertion and/or deletion | pathogenic variant | 21770923, Liang et al (2011) | rs267608649 |
c.2038A>T | g.18627024A>T | p.Lys680* | not specified | nonsense | pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.2045_2046delAGins18 | p.Glu682Glyfs*12 | p.E682GfsX12 | not specified | frameshift insertion and/or deletion | pathogenic variant | 18790821, Bahi-Buisson et al (2008) | ||
c.2046+1G>A | g.18627033G>A | p.? | intronic variation | not specified | splicing variant | pathogenic variant | 22982301, Zhang et al (2012) | |
c.2046+79G>A | g.18627111G>A | p.= | intronic variation | not specified | intronic variant | benign variant | 19241098, Russo et al (2009) | rs147819758 |
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.2066delC | g.18627604delC | p.Pro689Hisfs*95 | p.P689fs | not specified | frameshift insertion and/or deletion | pathogenic variant | 19780792, Mei et al (2010) | rs267608651 |
c.2072_2073delCT | g.18627610_18627611delCT | p.Ser691* | not specified | nonsense | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.2152G>A | g.18627690G>A | p.Val718Met | p.V718M | not specified | missense | likely pathogenic variant | 18790821, Bahi-Buisson et al (2008) | rs267608653 |
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.2152+1G>A | g.18627691G>A | p.? | not specified | splicing variant | likely pathogenic variant | 27599155, Lilles S et al (2016) | ||
c.2200A>G | g.18631319A>G | p.Thr734Ala | p.T734A | not specified | missense | variant of uncertain significance | 23242510, Das et al (2013) | rs55803460 |
c.2225_2228del | g.18631344_18631347del | p.Glu742Alafs*41 | not specified | frameshift insertion and/or deletion | pathogenic variant | 27599155, Lilles S et al (2016) | ||
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.2276+1G>A | g.18631396G>A | p.Val718_Trp759delinsGly | regulatory C-terminal | splicing variant | pathogenic variant | 25657822, Fehr S et al (2015) | ||
c.2277-2A>G | g.18637985A>G | p.? | p.K760? | not specified | splicing variant | pathogenic variant | 22812903, Paine et al (2012) | |
c.2308C>A | g.18638018C>A | p.Gln770Lys | p.Q770K | not specified | missense | benign variant | 23064044, Raymond et al (2013) | |
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.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.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.2372A>C | g.18638082A>C | p.Gln791Pro | p.Q791P | regulatory C-terminal | missense | benign variant | 15499549, Tao et al (2004) | rs35478150 |
c.[2372A>C];[2372A>C] | p.[Gln791Pro];[Gln791Pro] | p.[Q791P];[Q791P] | regulatory C-terminal | missense | benign variant | Directly submitted | rs35478150 | |
c.2374dupA | g.18638084dupA | p.Thr792Asnfs*9 | regulatory C-terminal | frameshift insertion and/or deletion | 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.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.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.2377-1569_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.[=/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.2377-31T>C | g.18643217T>C | p.= | intronic variation | regulatory C-terminal | intronic variant | benign variant | 20397747, White et al (2010) | rs267608658 |
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-?_*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.2378T>C | g.18643249T>C | p.Val793Ala | p.V793A | regulatory C-terminal | missense | variant of uncertain significance | 16611748, Archer et al (2006) | rs62643617 |
c.2389G>A | g.18643260G>A | p.Asp797Asn | p.D797N | regulatory C-terminal | missense | benign variant | 22867051, Maortua et al (2012) | |
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.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.[=/2420_2430del] | 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.2494C>T | g.18643365C>T | p.Gln832* | p.Q832X | regulatory C-terminal | nonsense | pathogenic variant | 23647072, Veeramah et al (2013) | rs17857094 |
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.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.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.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.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.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.2530delC | g.18646524delC | p.His844Ilefs*19 | p.H844IfsX19, p.H844fs | regulatory C-terminal | frameshift insertion and/or deletion | pathogenic variant | Directly submitted | |
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.2564C>G | g.18646558C>G | p.Ser855* | p.S855X | regulatory C-terminal | nonsense | pathogenic variant | 23708187, Carvill et al (2013) | |
c.2572C>T | g.18646566C>T | p.Arg858Cys | p.R858C | regulatory C-terminal | missense | variant of uncertain significance | 23708187, Carvill et al (2013) | |
c.2593C>T | g.18646587C>T | p.Gln865* | p.Q865X | regulatory C-terminal | nonsense | pathogenic variant | 23583054, Mirzaa et al (2013) | rs267608663 |
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.2673G>A | g.18646667G>A | p.= | p.Gln891Gln | regulatory C-terminal | silent | benign variant | Roche Martinez et al (2012) | |
c.2684C>T | g.18646678C>T | p.Pro895Leu | regulatory C-terminal | missense | variant of uncertain significance | 25657822, Fehr S et al (2015) | ||
c.2704C>T | g.18646698C>T | p.Gln902* | p.Q902X | regulatory C-terminal | nonsense | pathogenic variant | Roche Martinez et al (2012) | |
c.2711delC | g.18646705delC | p.Pro904Glnfs*23 | regulatory C-terminal | frameshift insertion and/or deletion | pathogenic variant | 25657822, Fehr S et al (2015) | ||
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.2767C>T | g.18664180C>T | p.Arg923Cys | p.R923C | regulatory C-terminal | missense | variant of uncertain significance | 19241098, Russo et al (2009) | rs267608664 |
c.2830C>A | g.18668562C>A | p.Pro944Thr | p.P944T | regulatory C-terminal | missense | likely benign variant | 23756444, Diebold et al (2014) | rs200236257 |
c.2854C>T | g.18668586C>T | p.Arg952* | p.R952X | regulatory C-terminal | nonsense | benign variant | 21775177, Intusoma et al (2011) | rs202153551 |
c.2896G>A | g.18668628G>A | p.Val966Ile | p.V966I | regulatory C-terminal | missense | likely benign variant | 23242510, Das et al (2013) | |
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.2927C>T | g.18668659C>T | p.Pro976Leu | p.P976L | regulatory C-terminal | missense | likely benign variant | 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.2984T>G | g.18671555T>G | p.Phe995Cys | p.F995C | regulatory C-terminal | missense | likely benign variant | 20479760, Piton et al (2011) | rs267608666 |
c.2995G>A | g.18671566G>A | p.Val999Met | p.V999M | regulatory C-terminal | missense | benign variant | 16813600, Nectoux et al (2006) | rs35693326 |
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.3012G>T | g.18671583G>T | p.Arg1004Ser | p.R1004S | regulatory C-terminal | missense | likely benign variant | 20479760, Piton et al (2011) | rs267608667 |
c.3032C>T | g.18671603C>T | p.Ala1011Val | p.A1011V | regulatory C-terminal | missense | likely benign variant | 23242510, Das et al (2013) | |
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) |
Displaying 317 entries
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