FOXG1 Variant List



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cDNA name Protein name Domain affected Mutation type Pathogenicity class First cited reference dbSNP ID
c.133_469del337insACCCACCGCCCC p.Pro45Thrfs*39 Inter domain region frameshift insertion and/or deletion pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.136C>T p.Gln46* Inter domain region nonsense pathogenic variant 22091895, De Filippis, R. et al (2012)
c.222_223dupGC p.Pro75Argfs*118 Inter domain region frameshift insertion or duplication pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.256dupC p.Gln86Profs*35 Inter domain region frameshift insertion and/or deletion pathogenic variant 20734096, Le Guen, T. et al (2011)
c.256C>T p.Gln86* Inter domain region nonsense pathogenic variant 21441262, Kortum, F. et al (2011)
c.256delC p.Gln86Argfs*106 Inter domain region frameshift insertion and/or deletion pathogenic variant 22739344, Allou, L. et al (2012)
c.263_278del16 p.Arg88Profs*99 Inter domain region frameshift insertion and/or deletion pathogenic variant 21441262, Kortum, F. et al (2011)
c.263_278del16 p.Arg88Profs*99 Inter domain region frameshift insertion and/or deletion pathogenic variant Directly submitted
c.430G>T p.Glu144* Inter domain region nonsense pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.460dupG p.Glu154Glyfs*301 Inter domain region frameshift insertion and/or deletion pathogenic variant 19806373, Bahi-Buisson, N. et al (2010)
c.505_506delGGinsT p.Gly169Serfs*23 Inter domain region frameshift insertion and/or deletion pathogenic variant 21441262, Kortum, F. et al (2011)
c.505_506delGGinsT p.Gly169Serfs*23 Inter domain region frameshift insertion and/or deletion pathogenic variant Directly submitted
c.506dup p.Lys170Glnfs*285 Inter domain region frameshift insertion and/or deletion pathogenic variant 24388699, De Bruyn, C. et al (2014)
c.506delG p.Gly169Alafs*23 Inter domain region frameshift insertion or duplication pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.515_577del63 p.Gly172_Met192del Inter domain region in-frame insertion and/or deletion pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.552dupC 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] p.[Ala188Gly(;)Phe215Ser] Forkhead binding domain missense pathogenic variant Directly submitted
c.577G>A p.Ala193Thr Forkhead binding domain missense pathogenic variant 22190898, Van der Aa, N. et al (2011)
c.586C>T p.Gln196* Forkhead binding domain nonsense pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.610C>T p.Leu204Phe Forkhead binding domain missense pathogenic variant 21953941, Meneret, A. et al (2012)
c.624C>G p.Tyr208* Forkhead binding domain nonsense pathogenic variant 19578037, Mencarelli, M.A. et al (2010)
c.651C>G p.Tyr217* Inter domain region nonsense pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.689G>A p.Arg230His Forkhead binding domain missense pathogenic variant 22129046, Takahashi, S. et al (2012)
c.700T>C p.Ser234Pro Forkhead binding domain missense pathogenic variant 21441262, Kortum, F. et al (2011)
c.730C>T p.Arg244Cys Forkhead binding domain missense pathogenic variant 21280142, Le Guen, T. et al (2010)
c.735delC p.Tyr246Thrfs*80 Forkhead binding domain frameshift insertion or duplication pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.755G>T p.Gly252Val Forkhead binding domain missense pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.755G>T p.Gly252Val Forkhead binding domain missense pathogenic variant Directly submitted
c.757A>G p.Asn253Asp Forkhead binding domain missense pathogenic variant 21441262, Kortum, F. et al (2011)
c.757A>G p.Asn253Asp Forkhead binding domain missense pathogenic variant Directly submitted
c.762C>G p.Tyr254* Forkhead binding domain nonsense pathogenic variant 24836831, Seltzer, L.E. et al (2014)
c.765G>A p.Trp255* Forkhead binding domain nonsense pathogenic variant 18571142, Ariani, F. et al (2008)
c.788_792delACGTG p.Asp263Valfs*190 Forkhead binding domain frameshift insertion and/or deletion pathogenic variant 24412290, Das, D.K. et al (2014)
c.924G>A p.Trp308* Groucho-binding domain nonsense pathogenic variant 19564653, Philippe, C et al (2010)
c.969delC p.Ser323Argfs*3 Inter domain region frameshift insertion and/or deletion pathogenic variant 18571142, Ariani, F. et al (2008)
c.1200C>A p.Tyr400* JARID1B binding domain nonsense pathogenic variant 22091895, De Filippis, R. et al (2012)
c.572T>G p.Met191Arg Forkhead binding domain missense likely pathogenic variant 26364767, McMahon KQ et al (2015)
c.643T>C p.Phe215Leu Forkhead binding domain missense likely pathogenic variant 19578037, Mencarelli, M.A. et al (2010)
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 p.Tyr400* JARID1B binding domain nonsense likely pathogenic variant 19564653, Philippe, C et al (2010)
c.1248C>G p.Tyr416* Inter domain region nonsense likely pathogenic variant 19806373, Bahi-Buisson, N. et al (2010)
c.681C>G p.Asn227Lys Forkhead binding domain missense variant of uncertain significance 19578037, Mencarelli, M.A. et al (2010)
c.326C>T p.Pro109Leu Inter domain region missense likely benign variant 21280142, Le Guen, T. et al (2010)
c.159_161dupCCA p.His57dup Inter domain region in-frame insertion and/or deletion benign variant 22190898, Van der Aa, N. et al (2011)

Displaying 44 entries


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