Full data view for gene FOXG1

NOTE: the data displayed here derive from the RettBASE FOXG1 gene variant database and are shown only to link directly to their original source.
Information The variants shown are described using the NM_005249.4 transcript reference sequence.

197 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - - r.? p.? Parent #1 - VUS (!) g.29247635_29247638del g.28778429_28778432del chr14:29247628TAAAC>T - FOXG1_000118 only likely causative variant identified; region mapped by linkage LOD score >4.60 PubMed: Ye 2021 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - WES, WGS ? family PubMed: Ye 2021 7-generation family, 22 affected (13F, 9M) F;M - Canada Europe - - - - 22 Johan den Dunnen
?/. - c.118_120del r.(?) p.(His40del) Unknown - VUS g.29236603_29236605del g.28767397_28767399del FOXG1(NM_005249.5):c.118_120delCAC (p.H40del) - FOXG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.133_469delinsACCCACCGCCCC r.(?) p.(Pro45Thrfs*39) Unknown - pathogenic (dominant) g.29236618_29236954delinsACCCACCGCCCC g.28767412_28767748delinsACCCACCGCCCC 133_469del337insACCCACCGCCCC - FOXG1_000100 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Gln46*) Unknown - pathogenic (dominant) g.29236621C>T g.28767415C>T - - FOXG1_000101 - PubMed: De Filippis 2012 - - Unknown - - - - - DNA SEQ - - ? - PubMed: De Filippis 2012 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.141C>G r.(?) p.(His47Gln) Unknown - likely benign g.29236626C>G - FOXG1(NM_005249.4):c.141C>G (p.(His47Gln)) - FOXG1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.159_161dup r.(?) p.(His57dup) Unknown - benign g.29236644_29236646dup g.28767438_28767440dup - - FOXG1_000023 carrier unaffected father PubMed: Van der Aa 2011 - - Germline - - - - - DNA SEQ - - DEE2 - PubMed: Van der Aa 2011 Not Rett synd. - early-onset encephalopathy F - - - - - - - 1 RettBASE
-/. 1 c.159_161dup r.(?) p.(His57dup) Unknown - benign g.29236644_29236646dup g.28767438_28767440dup - - FOXG1_000023 carrier daughter with encephalopathy PubMed: Van der Aa 2011 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Van der Aa 2011 - M - - - - - - - 1 RettBASE
+/. - c.177_186del r.(?) p.(Pro60ArgfsTer129) Unknown - pathogenic (dominant) g.29236662_29236671del g.28767456_28767465del - - FOXG1_000123 - PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC47 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
-?/. - c.201G>T r.(?) p.(Pro67=) Unknown - likely benign g.29236686G>T g.28767480G>T FOXG1(NM_005249.4):c.201G>T (p.P67=) - FOXG1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>C r.(?) p.(Gln71His) Unknown - likely benign g.29236698G>C - FOXG1(NM_005249.4):c.213G>C (p.(Gln71His)) - FOXG1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.214C>T r.(?) p.(Gln72*) Unknown ACMG pathogenic (dominant) g.29236699C>T g.28767493C>T - - FOXG1_000073 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - - DD Fam2Pat2 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.217C>T r.(?) p.(Gln73Ter) Unknown - pathogenic g.29236702C>T g.28767496C>T FOXG1(NM_005249.5):c.217C>T (p.Q73*) - FOXG1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.222_223dup r.(?) p.(Pro75Argfs*118) Unknown - pathogenic (dominant) g.29236707_29236708dup g.28767501_28767502dup 222_223dupGC - FOXG1_000102 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.228_236dup r.(?) p.(Pro78_Pro80dup) Unknown - likely benign g.29236713_29236721dup - FOXG1(NM_005249.4):c.228_236dupGCCGCCGCC (p.(Pro77_Pro79dup)) - FOXG1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.231_236del r.(?) p.(Pro79_Pro80del) Unknown - VUS g.29236716_29236721del g.28767510_28767515del FOXG1(NM_005249.4):c.231_236delGCCGCC (p.P79_P80del) - FOXG1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234_236dup r.(?) p.(Pro80dup) Unknown - likely benign g.29236719_29236721dup g.28767513_28767515dup FOXG1(NM_005249.4):c.218_219insGCC (p.(Pro80dup)) - FOXG1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251C>A r.(?) p.(Pro84His) Unknown - likely benign g.29236736C>A g.28767530C>A FOXG1(NM_005249.4):c.251C>A (p.P84H) - FOXG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.256C>T r.(?) p.(Gln86*) Unknown - pathogenic g.29236741C>T g.28767535C>T - - FOXG1_000019 not in mother PubMed: Kortum 2011 - - Unknown - - - - - DNA SEQ - - RTT - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - 1 RettBASE
+/. - c.256C>T r.(?) p.(Gln86*) Unknown - pathogenic (dominant) g.29236741C>T g.28767535C>T - - FOXG1_000019 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.256del r.(?) p.Gln86Argfs*106 Unknown ACMG pathogenic g.29236741del g.28767535del - - FOXG1_000055 ACMG grading: PVS1,PP5,PM6,PM2; confirmed with sanger-sequencing; reported in Allou 2012. EJHG 20: 1216; Cellini 2016. DevMedChild 58: 93 - - rs786205001 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.256del r.(?) p.(Gln86Argfs*106) Unknown ACMG pathogenic (dominant) g.29236741del g.28767535del 256delC - FOXG1_000055 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - - DD Fam1Pat1 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.256del r.(?) p.(Gln86Argfs*106) Unknown - pathogenic (dominant) g.29236741del g.28767535del 256delC - FOXG1_000055 - PubMed: Allou 2012 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Allou 2012 - M - - - - - - - 1 Johan den Dunnen
+/. 1 c.256dup r.(?) p.(Gln86Profs*35) Unknown - pathogenic g.29236741dup g.28767535dup - - FOXG1_000020 - PubMed: Le Guen 2011 - - De novo - - - - - DNA SEQ - - Rett syndrome - PubMed: Le Guen 2011 - M - - - - - - - 1 RettBASE
+/. - c.256dup r.(?) p.Gln86Profs*35 Unknown ACMG pathogenic g.29236741dup g.28767535dup - - FOXG1_000020 ACMG grading: PM2,PP5,PVS1,PM6; reported in Le Guen 2011. Neurogenetics 12: 1; Trump 2016. J Med Genet 53: 310 - - rs786205002 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. - c.256dup r.(?) p.(Gln86Profs*35) Unknown - pathogenic (dominant) g.29236741dup g.28767535dup 256dupC - FOXG1_000020 - PubMed: Allou 2012 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Allou 2012 - F - - - - - - - 1 Johan den Dunnen
+/. - c.256dup r.(?) p.(Gln86Profs*35) Unknown - pathogenic (dominant) g.29236741dup g.28767535dup 256dupC - FOXG1_000020 - PubMed: Ellaway 2012 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Ellaway 2012 - F - - - - - - - 1 Johan den Dunnen
+/. - c.256dup r.(?) p.(Gln86Profs*35) Unknown - pathogenic (dominant) g.29236741dup g.28767535dup 256dupC - FOXG1_000020 - PubMed: Takahashi 2012 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Takahashi 2012 - F - - - - - - - 1 Johan den Dunnen
+/. - c.256dup r.(?) p.(Gln86ProfsTer35) Unknown - pathogenic g.29236741dup - FOXG1(NM_005249.5):c.256dup (p.(Gln86ProfsTer35)), FOXG1(NM_005249.5):c.256dupC (p.Q86Pfs*35) - FOXG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.256dup r.(?) p.(Gln86ProfsTer35) Unknown - pathogenic g.29236741dup - FOXG1(NM_005249.5):c.256dup (p.(Gln86ProfsTer35)), FOXG1(NM_005249.5):c.256dupC (p.Q86Pfs*35) - FOXG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.263_278del r.(?) p.(Arg88Profs*99) Unknown - pathogenic g.29236748_29236763del g.28767542_28767557del - - FOXG1_000021 - PubMed: Kortum 2011 (Das) - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Kortum 2011 (Das) - M - - - - - - - 1 RettBASE
+/. 1 c.263_278del r.(?) p.(Arg88Profs*99) Unknown - pathogenic g.29236748_29236763del g.28767542_28767557del - - FOXG1_000021 - PubMed: Kortum 2011 - - De novo - - - - - DNA SEQ - - RTT - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - 1 RettBASE
+/. - c.263_278del r.(?) p.(Arg88Profs*99) Unknown - pathogenic (dominant) g.29236748_29236763del g.28767542_28767557del 263_278del16 - FOXG1_000021 - submitted to RettBASE - - Unknown - - - - - DNA SEQ - - ? - submitted to RettBASE - M - - - - - - - 1 Johan den Dunnen
-?/. - c.289A>G r.(?) p.(Lys97Glu) Unknown - likely benign g.29236774A>G g.28767568A>G - - FOXG1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.297C>A r.(=) p.(=) Parent #1 - VUS g.29236782C>A g.28767576C>A - - FOXG1_000029 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.298del r.(?) p.(Gln100Serfs*92) Parent #1 - pathogenic g.29236783del g.28767577del - - FOXG1_000095 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783636 Germline - 2/2785 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. 1 c.326C>T r.(?) p.(Pro109Leu) Unknown - benign g.29236811C>T g.28767605C>T - - FOXG1_000022 Carrier heterozygous healthy father PubMed: Le Guen 2011 - - Germline - - - - - DNA SEQ - - - - PubMed: Le Guen 2011 Not Rett synd. - severe microcephaly F - - - - - - - 1 RettBASE
-?/. 1 c.326C>T r.(?) p.(Pro109Leu) Unknown - benign g.29236811C>T g.28767605C>T - - FOXG1_000022 - PubMed: Le Guen 2011 - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Le Guen 2011 - M - - - - - - - 1 RettBASE
-?/. - c.384C>G r.(?) p.(Gly128=) Unknown - likely benign g.29236869C>G - FOXG1(NM_005249.5):c.384C>G (p.G128=) - FOXG1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.385del r.(?) p.(Glu129Serfs*63) Unknown ACMG pathogenic (dominant) g.29236870del g.28767664del 385delG - FOXG1_000074 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - - DD Fam5Pat5 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.385G>T r.(?) p.(Glu129*) Unknown ACMG likely pathogenic g.29236870G>T g.28767664G>T - - FOXG1_000032 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - Rett syndrome - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
?/. 1 c.390G>C r.(=) p.(=) Parent #1 - VUS g.29236875G>C g.28767669G>C - - FOXG1_000030 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. 1 c.390G>C r.(=) p.(=) Parent #1 - VUS g.29236875G>C g.28767669G>C - - FOXG1_000030 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.401C>G r.(?) p.(Pro134Arg) Unknown - likely benign g.29236886C>G - FOXG1(NM_005249.4):c.401C>G (p.(Pro134Arg)) - FOXG1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.406G>T r.(?) p.(Glu136*) Unknown ACMG pathogenic (dominant) g.29236891G>T g.28767685G>T - - FOXG1_000075 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DD Fam3Pat3 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.406G>T r.(?) p.(Glu136*) Unknown - pathogenic (dominant) g.29236891G>T g.28767685G>T - - FOXG1_000075 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio61 PubMed: Zhu 2015 - M - Israel - - - - - 1 Johan den Dunnen
+/. - c.430G>T r.(?) p.(Glu144*) Unknown - pathogenic (dominant) g.29236915G>T g.28767709G>T - - FOXG1_000103 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
?/. 1 c.447C>T r.(=) p.(=) Parent #1 - VUS g.29236932C>T g.28767726C>T - - FOXG1_000031 - - - rs112803404 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.447C>T r.(?) p.(Ala149=) Unknown - likely benign g.29236932C>T g.28767726C>T FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=) - FOXG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ala149=) Unknown - likely benign g.29236932C>T g.28767726C>T FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=) - FOXG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ala149=) Unknown - likely benign g.29236932C>T g.28767726C>T FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=) - FOXG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.460del r.(?) p.(Glu154Argfs*38) Unknown ACMG pathogenic (dominant) g.29236945del g.28767739del 460delG - FOXG1_000076 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - - DD Fam6Pat6 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460del r.(?) p.(Glu154Argfs*38) Unknown - pathogenic g.29236945del - FOXG1(NM_005249.5):c.460delG (p.E154Rfs*38) - FOXG1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic g.29236945dup g.28767739dup - - FOXG1_000012 - PubMed: Bahi-Buisson 2010 - - De novo - - - - - DNA SEQ - - Rett syndrome - PubMed: Bahi-Buisson 2010 - F - - - - - - - 1 RettBASE
+/. 1 c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic g.29236945dup g.28767739dup - - FOXG1_000012 - PubMed: Kortum 2011 - - Unknown - - - - - DNA SEQ - - RTT - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - 1 RettBASE
+/. 1 c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic g.29236945dup g.28767739dup - - FOXG1_000012 - PubMed: Kortum 2011 - - De novo - - - - - DNA SEQ - - RTT - PubMed: Kortum 2011 Rett syndrome - atypical F - - - - - - - 1 RettBASE
+/. 1 c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic g.29236945dup g.28767739dup - - FOXG1_000012 - PubMed: Van der Aa 2011 - - De novo - - - - - DNA SEQ - - RTT - PubMed: Van der Aa 2011 Rett syndrome - classical F - - - - - - - 1 RettBASE
+/. 1 c.460dup r.(?) p.(Glu154Glyfs*301) Parent #1 - pathogenic g.29236945dup g.28767739dup - - FOXG1_000012 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown ACMG pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - - DD Fam4Pat4 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown ACMG pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Mitter 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel DD Fam7Pat7 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown ACMG pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - gene panel DD Fam8Pat8 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown ACMG pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - gene panel DD Fam9Pat9 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 germline mosaicism mother PubMed: Srivastava 2018 - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES ID Pat3 PubMed: Srivastava 2018 2-generation family, 2 affected, unaffected parents, patient has sister with similar phenotype and same variant M - United States - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.460dup r.(?) p.(Glu154Glyfs*301) Unknown - pathogenic (dominant) g.29236945dup g.28767739dup 460dupG - FOXG1_000012 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.460dupG r.(?) p.(Glu154GlyfsTer301) Unknown - likely pathogenic g.29236945dup g.28767739dup 460dupG - FOXG1_000012 parental germline mosaicism PubMed: Srivastava 2014 - - De novo - - - - - DNA SEQ-NG - WES ? Pat46 PubMed: Srivastava 2014 family, several affected - - United States - - - - - 2 Johan den Dunnen
+/. - c.460G>T r.(?) p.(Glu154*) Unknown - pathogenic g.29236945G>T - FOXG1(NM_005249.4):c.460G>T (p.(Glu154*)) - FOXG1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467A>G r.(?) p.(Lys156Arg) Unknown - VUS g.29236952A>G - FOXG1(NM_005249.4):c.467A>G (p.(Lys156Arg)) - FOXG1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.479del r.(?) p.(Gly160Alafs*32) Unknown - pathogenic g.29236964del g.28767758del 479delG - FOXG1_000033 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+?/. - c.479_488del r.(?) p.(Gly160Alafs*29) Unknown - likely pathogenic (dominant) g.29236964_29236973del g.28767758_28767767del - - FOXG1_000117 - - - - De novo - - - - - DNA SEQ-NG - WES Rett syndrome 161P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
?/. 1 c.489C>T r.(=) p.(=) Parent #1 - VUS g.29236974C>T g.28767768C>T - - FOXG1_000025 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.489C>T r.(?) p.(Gly163=) Unknown - likely benign g.29236974C>T g.28767768C>T FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=) - FOXG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489C>T r.(?) p.(Gly163=) Unknown - likely benign g.29236974C>T g.28767768C>T FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=) - FOXG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.489C>T r.(?) p.(Gly163=) Unknown - benign g.29236974C>T g.28767768C>T FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=) - FOXG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.503G>C r.(?) p.(Gly168Ala) Unknown - likely benign g.29236988G>C g.28767782G>C FOXG1(NM_005249.5):c.503G>C (p.G168A) - FOXG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.505_506delinsT r.(?) p.(Gly169Serfs*23) Unknown - pathogenic g.29236990_29236991delinsT g.28767784_28767785delinsT - - FOXG1_000013 - PubMed: Kortum 2011 - - De novo - - - - - DNA SEQ - - RTT - PubMed: Kortum 2011 Rett syndrome - atypical M - - - - - - - 1 RettBASE
+/. 1 c.505_506delinsT r.(?) p.(Gly169Serfs*23) Unknown - pathogenic g.29236990_29236991delinsT g.28767784_28767785delinsT - - FOXG1_000013 - PubMed: Kortum 2011 (Das) - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Kortum 2011 (Das) - M - - - - - - - 1 RettBASE
+/. - c.505_506delinsT r.(?) p.(Gly169Serfs*23) Unknown - pathogenic (dominant) g.29236990_29236991delinsT g.28767784_28767785delinsT 505_506delGGinsT - FOXG1_000013 - submitted to RettBASE - - Unknown - - - - - DNA SEQ - - ? - submitted to RettBASE - M - - - - - - - 1 Johan den Dunnen
+/. - c.506del r.(?) p.(Gly169Alafs*23) Unknown - pathogenic (dominant) g.29236991del g.28767785del - - FOXG1_000099 - PubMed: Hamdan 2015 - - De novo - - - - - DNA SEQ-NG - WES ID 893.339 PubMed: Hamdan 2015 - F - Canada - - - - - 1 Johan den Dunnen
+/. - c.506del r.(?) p.(Gly169Alafs*23) Unknown - pathogenic (dominant) g.29236991del g.28767785del 506delG - FOXG1_000099 - PubMed: Seltzer 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - M - - - - - - - 1 Johan den Dunnen
+/. - c.506del r.(?) p.(Gly169Alafs*23) Unknown - pathogenic g.29236991del - FOXG1(NM_005249.5):c.506delG (p.G169Afs*23) - FOXG1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.506dup r.(?) p.(Lys170Glnfs*285) Unknown - pathogenic (dominant) g.29236991dup g.28767785dup - - FOXG1_000054 - PubMed: De Bruyn 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: De Bruyn 2014 - M - - - - - - - 1 Johan den Dunnen
+/. - c.515_577del r.(?) p.(Gly172_Met192del) Unknown - pathogenic (dominant) g.29237000_29237062del g.28767794_28767856del 515_577del63 - FOXG1_000104 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.515_577del r.(?) p.(Gly172_Met192del) Unknown - pathogenic (dominant) g.29237000_29237062del g.28767794_28767856del 515_577del63 - FOXG1_000104 - PubMed: Seltzer 2014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Seltzer 2014 - F - - - - - - - 1 Johan den Dunnen
+/. - c.517G>T r.(?) p.(Glu173*) Unknown ACMG pathogenic (dominant) g.29237002G>T g.28767796G>T - - FOXG1_000077 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - trio-WES DD Fam10Pat10 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.543G>C r.(?) p.(Lys181Asn) Unknown ACMG pathogenic (dominant) g.29237028G>C g.28767822G>C - - FOXG1_000078 parental gonadal mosaicism PubMed: Mitter 2018 - - Germline - - - - - DNA SEQ - gene panel DD Fam11Pat11 PubMed: Mitter 2018 2-generation family, 2 affected sibs (F, M), unaffected parents M - - - - - - - 2 Johan den Dunnen
+/. - c.543G>C r.(?) p.(Lys181Asn) Unknown ACMG pathogenic (dominant) g.29237028G>C g.28767822G>C - - FOXG1_000078 parental gonadal mosaicism PubMed: Mitter 2018 - - Germline - - - - - DNA SEQ - - DD Fam11Pat12 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.545C>A r.(?) p.(Pro182Gln) Unknown ACMG pathogenic (dominant) g.29237030C>A g.28767824C>A - - FOXG1_000079 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - gene panel DD Fam13Pat13 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. 1 c.552dup r.(?) p.(Ser185Glnfs*270) Unknown - pathogenic g.29237037dup g.28767831dup - - FOXG1_000014 - PubMed: Mencarelli 2010 - - De novo - - - - - DNA SEQ - - Rett syndrome - PubMed: Mencarelli 2010 - F - - - - - - - 1 RettBASE
+?/. - c.553A>T r.(?) p.(Ser185Cys) Unknown ACMG likely pathogenic (dominant) g.29237038A>T g.28767832A>T - - FOXG1_000080 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ - gene panel DD Fam14Pat14 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.560A>G r.(?) p.(Asn187Ser) Unknown ACMG likely pathogenic (dominant) g.29237045A>G - - - FOXG1_000122 ACMG: PS2_MOD, PM1, PM5, PM2_SUP, PP2, confirmed de novo in trio-exome, p.Asn187Asp,Tyr,Lys are known pathogenic variants - - - De novo - - - - - DNA SEQ-NG-I Blood - Rett syndrome 199556 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.561C>A r.(?) p.(Asn187Lys) Unknown ACMG pathogenic (dominant) g.29237046C>A g.28767840C>A - - FOXG1_000081 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - trio-WES DD Fam15Pat15 PubMed: Mitter 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.561C>A r.(?) p.(Asn187Lys) Unknown ACMG pathogenic (dominant) g.29237046C>A g.28767840C>A - - FOXG1_000081 - PubMed: Mitter 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - trio-WES DD Fam16Pat16 PubMed: Mitter 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.561C>A r.(?) p.(Asn187Lys) Unknown ACMG pathogenic (dominant) g.29237046C>A g.28767840C>A - - FOXG1_000081 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat38 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.561C>G r.(?) p.(Asn187Lys) Unknown - likely pathogenic g.29237046C>G g.28767840C>G FOXG1(NM_005249.5):c.561C>G (p.N187K) - FOXG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.561C>G r.(?) p.(Asn187Lys) Unknown ACMG pathogenic (dominant) g.29237046C>G g.28767840C>G - - FOXG1_000037 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat39 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.563C>A r.(?) p.(Ala188Glu) Unknown ACMG pathogenic (dominant) g.29237048C>A g.28767842C>A - - FOXG1_000047 ACMG PS2, PS4, PM1, PM2, PM5, PP2, PP3 PubMed: Ghasemi 2024 SCV001337647.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES autism Fam2PatIII1 PubMed: Ghasemi 2024 3-generation family, 1 affected, unaffected non carrier parents F yes Iran - - - - - 1 Johan den Dunnen
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