FOXG1 Variant List
cDNA name | Genomic name | Protein name | Domain affected | Mutation type | Pathogenicity class | First cited reference | dbSNP ID |
---|---|---|---|---|---|---|---|
c.133_469del337insACCCACCGCCCC | g.29236618_29236954delinsACCCACCGCCCC | p.Pro45Thrfs*39 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.136C>T | g.29236621C>T | p.Gln46* | Inter domain region | nonsense | pathogenic variant | 22091895, De Filippis, R. et al (2012) | |
c.159_161dupCCA | g.29236644_29236646dupCCA | p.His57dup | Inter domain region | in-frame insertion and/or deletion | benign variant | 22190898, Van der Aa, N. et al (2011) | |
c.222_223dupGC | g.29236707_29236708dupGC | p.Pro75Argfs*118 | Inter domain region | frameshift insertion or duplication | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.256dupC | g.29236741dupC | p.Gln86Profs*35 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 20734096, Le Guen, T. et al (2011) | |
c.256C>T | g.29236741C>T | p.Gln86* | Inter domain region | nonsense | pathogenic variant | 21441262, Kortum, F. et al (2011) | |
c.256delC | g.29236741delC | p.Gln86Argfs*106 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 22739344, Allou, L. et al (2012) | |
c.263_278del16 | g.29236748_29236763del16 | p.Arg88Profs*99 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 21441262, Kortum, F. et al (2011) | |
c.263_278del16 | g.29236748_29236763del16 | p.Arg88Profs*99 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | Directly submitted | |
c.326C>T | g.29236811C>T | p.Pro109Leu | Inter domain region | missense | likely benign variant | 21280142, Le Guen, T. et al (2010) | |
c.430G>T | g.29236915G>T | p.Glu144* | Inter domain region | nonsense | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.460dupG | g.29236945dupG | p.Glu154Glyfs*301 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 19806373, Bahi-Buisson, N. et al (2010) | |
c.505_506delGGinsT | g.29236990_29236991delinsT | p.Gly169Serfs*23 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 21441262, Kortum, F. et al (2011) | |
c.505_506delGGinsT | g.29236990_29236991delinsT | p.Gly169Serfs*23 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | Directly submitted | |
c.506dup | g.29236991dup | p.Lys170Glnfs*285 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 24388699, De Bruyn, C. et al (2014) | |
c.506delG | g.29236991delG | p.Gly169Alafs*23 | Inter domain region | frameshift insertion or duplication | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.515_577del63 | g.29237000_29237062del63 | p.Gly172_Met192del | Inter domain region | in-frame insertion and/or deletion | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.552dupC | g.29237037dupC | p.Ser185Glnfs*270 | Forkhead binding domain | frameshift insertion and/or deletion | pathogenic variant | 19578037, Mencarelli, M.A. et al (2010) | |
c.[563C>G(;)644_645delTCinsCT] | g.[29237048C>G;29237129_29237130delinsCT] | p.[Ala188Gly(;)Phe215Ser] | Forkhead binding domain | missense | pathogenic variant | Directly submitted | |
c.572T>G | g.29237057T>G | p.Met191Arg | Forkhead binding domain | missense | likely pathogenic variant | 26364767, McMahon KQ et al (2015) | |
c.577G>A | g.29237062G>A | p.Ala193Thr | Forkhead binding domain | missense | pathogenic variant | 22190898, Van der Aa, N. et al (2011) | |
c.586C>T | g.29237071C>T | p.Gln196* | Forkhead binding domain | nonsense | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.610C>T | g.29237095C>T | p.Leu204Phe | Forkhead binding domain | missense | pathogenic variant | 21953941, Meneret, A. et al (2012) | |
c.624C>G | g.29237109C>G | p.Tyr208* | Forkhead binding domain | nonsense | pathogenic variant | 19578037, Mencarelli, M.A. et al (2010) | |
c.643T>C | g.29237128T>C | p.Phe215Leu | Forkhead binding domain | missense | likely pathogenic variant | 19578037, Mencarelli, M.A. et al (2010) | |
c.651C>G | g.29237136C>G | p.Tyr217* | Inter domain region | nonsense | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.681C>G | g.29237166C>G | p.Asn227Lys | Forkhead binding domain | missense | variant of uncertain significance | 19578037, Mencarelli, M.A. et al (2010) | |
c.689G>A | g.29237174G>A | p.Arg230His | Forkhead binding domain | missense | pathogenic variant | 22129046, Takahashi, S. et al (2012) | |
c.700T>C | g.29237185T>C | p.Ser234Pro | Forkhead binding domain | missense | pathogenic variant | 21441262, Kortum, F. et al (2011) | |
c.730C>T | g.29237215C>T | p.Arg244Cys | Forkhead binding domain | missense | pathogenic variant | 21280142, Le Guen, T. et al (2010) | |
c.735delC | g.29237220delC | p.Tyr246Thrfs*80 | Forkhead binding domain | frameshift insertion or duplication | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.755G>T | g.29237240G>T | p.Gly252Val | Forkhead binding domain | missense | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.755G>T | g.29237240G>T | p.Gly252Val | Forkhead binding domain | missense | pathogenic variant | Directly submitted | |
c.757A>G | g.29237242A>G | p.Asn253Asp | Forkhead binding domain | missense | pathogenic variant | 21441262, Kortum, F. et al (2011) | |
c.757A>G | g.29237242A>G | p.Asn253Asp | Forkhead binding domain | missense | pathogenic variant | Directly submitted | |
c.762C>G | g.29237247C>G | p.Tyr254* | Forkhead binding domain | nonsense | pathogenic variant | 24836831, Seltzer, L.E. et al (2014) | |
c.765G>A | g.29237250G>A | p.Trp255* | Forkhead binding domain | nonsense | pathogenic variant | 18571142, Ariani, F. et al (2008) | |
c.788_792delACGTG | g.29237273_29237277delACGTG | p.Asp263Valfs*190 | Forkhead binding domain | frameshift insertion and/or deletion | pathogenic variant | 24412290, Das, D.K. et al (2014) | |
c.924G>A | g.29237409G>A | p.Trp308* | Groucho-binding domain | nonsense | pathogenic variant | 19564653, Philippe, C et al (2010) | |
c.969delC | g.29237454delC | p.Ser323Argfs*3 | Inter domain region | frameshift insertion and/or deletion | pathogenic variant | 18571142, Ariani, F. et al (2008) | |
c.974_975insA | p.Ser326Glufs*129 | Inter domain region | frameshift insertion and/or deletion | likely pathogenic variant | 24766421, Diebold, B. et al (2014) | ||
c.1200C>G | g.29237685C>G | p.Tyr400* | JARID1B binding domain | nonsense | likely pathogenic variant | 19564653, Philippe, C et al (2010) | |
c.1200C>A | g.29237685C>A | p.Tyr400* | JARID1B binding domain | nonsense | pathogenic variant | 22091895, De Filippis, R. et al (2012) | |
c.1248C>G | g.29237733C>G | p.Tyr416* | Inter domain region | nonsense | likely pathogenic variant | 19806373, Bahi-Buisson, N. et al (2010) |
Displaying 44 entries
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