### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXG1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FOXG1" "forkhead box G1" "14" "q11-q13" "no" "NG_009367.1" "UD_134408365497" "" "https://www.LOVD.nl/FOXG1" "RettBASE " "1" "3811" "2290" "164874" "1" "1" "1" "1" "NOTE: the data displayed here derive from the RettBASE FOXG1 gene variant database and are shown only to link directly to their original source.\r\nThe establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/FOXG1_codingDNA.html" "1" "" "NOTE: the data displayed here derive from the RettBASE FOXG1 gene variant database and are shown only to link directly to their original source." "-1" "" "-1" "00008" "2012-10-31 00:00:00" "00006" "2020-06-23 22:02:03" "00006" "2025-09-26 18:03:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001723" "FOXG1" "forkhead box G1" "001" "NM_005249.4" "" "NP_005240.3" "" "" "" "-208" "2998" "1470" "29236278" "29239483" "00008" "2012-10-31 14:49:24" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00065" "Rett syndrome" "Rett syndrome, congenital variant" "AD" "613454" "" "" "" "00008" "2012-10-31 14:44:58" "00006" "2022-05-30 12:45:18" "00066" "RTT" "Rett syndrome (RTT)" "XLD" "312750" "" "" "" "00008" "2012-10-31 15:08:39" "00006" "2021-12-10 21:51:32" "00067" "DEE2" "encephalopathy, developmental and epileptic, type 2" "XLD" "300672" "" "" "" "00008" "2012-10-31 15:28:07" "00006" "2024-02-02 17:34:51" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FOXG1" "00065" "FOXG1" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 137 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000239" "" "" "" "1" "" "00042" "{PMID:Van der Aa 2011:22190898}" "Not Rett synd. - early-onset encephalopathy" "F" "" "" "" "0" "" "" "" "" "00000240" "" "" "" "1" "" "00042" "{PMID:Van der Aa 2011:22190898}" "" "M" "" "" "" "0" "" "" "" "" "00000241" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "F" "" "" "" "0" "" "" "" "" "00000242" "" "" "" "1" "" "00042" "{PMID:Le Guen 2011:20734096}" "" "M" "" "" "" "0" "" "" "" "" "00000243" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262} (Das)" "" "M" "" "" "" "0" "" "" "" "" "00000244" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "M" "" "" "" "0" "" "" "" "" "00000245" "" "" "" "1" "" "00042" "{PMID:Le Guen 2011:21270142}" "Not Rett synd. - severe microcephaly" "F" "" "" "" "0" "" "" "" "" "00000246" "" "" "" "1" "" "00042" "{PMID:Le Guen 2011:21270142}" "" "M" "" "" "" "0" "" "" "" "" "00000247" "" "" "" "1" "" "00042" "{PMID:Bahi-Buisson 2010:19806373}" "" "F" "" "" "" "0" "" "" "" "" "00000248" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "M" "" "" "" "0" "" "" "" "" "00000249" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "F" "" "" "" "0" "" "" "" "" "00000250" "" "" "" "1" "" "00042" "{PMID:Van der Aa 2011:22190898}" "Rett syndrome - classical" "F" "" "" "" "0" "" "" "" "" "00000251" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "M" "" "" "" "0" "" "" "" "" "00000252" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262} (Das)" "" "M" "" "" "" "0" "" "" "" "" "00000253" "" "" "" "1" "" "00042" "{PMID:Mencarelli 2010:19578037}" "" "F" "" "" "" "0" "" "" "" "" "00000254" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262} (Das)" "" "F" "" "" "" "0" "" "" "" "" "00000255" "" "" "" "1" "" "00042" "{PMID:Van der Aa 2011:22190898}" "" "M" "" "" "" "0" "" "" "" "" "00000256" "" "" "" "1" "" "00042" "{PMID:Mencarelli 2010:19578037}" "" "F" "" "" "" "0" "" "" "" "" "00000257" "" "" "" "1" "" "00042" "{PMID:Mencarelli 2010:19578037}" "" "F" "" "" "" "0" "" "" "" "" "00000258" "" "" "" "1" "" "00042" "{PMID:Mencarelli 2010:19578037}" "" "F" "" "" "" "0" "" "" "" "" "00000259" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "M" "" "" "" "0" "" "" "" "" "00000260" "" "" "" "1" "" "00042" "{PMID:Le Guen 2011:21270142}" "" "F" "" "" "" "0" "" "" "" "" "00000261" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262} (Das)" "" "F" "" "" "" "0" "" "" "" "" "00000262" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262} (Das)" "" "F" "" "" "" "0" "" "" "" "" "00000263" "" "" "" "1" "" "00042" "{PMID:Kortum 2011:21441262}" "Rett syndrome - atypical" "F" "" "" "" "0" "" "" "" "" "00000264" "" "" "" "1" "" "00006" "{PMID:Ariani 2008:18571142}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Case 1" "00000265" "" "" "" "1" "" "00006" "{PMID:Philippe 2010:19564653}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat1" "00000266" "" "" "" "1" "" "00006" "{PMID:Ariani 2008:18571142}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Case 2" "00000267" "" "" "" "1" "" "00006" "{PMID:Philippe 2010:19564653}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat2" "00000268" "" "" "" "1" "" "00042" "{PMID:Bahi-Buisson 2010:19806373}" "" "F" "" "" "" "0" "" "" "" "" "00035861" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035862" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035863" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035864" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035865" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035866" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035867" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035868" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035869" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035870" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00081041" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00144429" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00144511" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00181081" "" "" "" "1" "" "02552" "" "" "M" "" "" "" "0" "" "" "" "" "00207984" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208546" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00229650" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00250299" "" "" "" "1" "" "03128" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00260914" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam1Pat1" "00260915" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam2Pat2" "00260916" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam3Pat3" "00260917" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam4Pat4" "00260918" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam5Pat5" "00260919" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam6Pat6" "00260920" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam7Pat7" "00260921" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam8Pat8" "00260922" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam9Pat9" "00260923" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam10Pat10" "00260924" "" "" "" "2" "" "00006" "{PMID:Mitter 2018:28661489}" "2-generation family, 2 affected sibs (F, M), unaffected parents" "M" "" "" "" "0" "" "" "" "Fam11Pat11" "00260925" "" "" "00260924" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam11Pat12" "00260926" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam13Pat13" "00260927" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam14Pat14" "00260928" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam15Pat15" "00260929" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam16Pat16" "00260930" "" "" "" "2" "" "00006" "{PMID:Mitter 2018:28661489}" "2-generation family, 2 affected identical twin sisters, unaffected parents" "F" "" "" "" "0" "" "" "" "Fam17Pat17" "00260931" "" "" "00260930" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam17Pat18" "00260932" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam19Pat19" "00260933" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam20Pat20" "00260934" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam21Pat21" "00260935" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam22Pat22" "00260936" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam23Pat23" "00260937" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam24Pat24" "00260938" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam25Pat25" "00260939" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam26Pat26" "00260940" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam27Pat27" "00260941" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam28Pat28" "00260942" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "F" "" "" "" "0" "" "" "" "Fam29Pat29" "00260943" "" "" "" "1" "" "00006" "{PMID:Mitter 2018:28661489}" "" "M" "" "" "" "0" "" "" "" "Fam30Pat30" "00288326" "" "" "" "1" "" "03543" "" "" "M" "no" "Switzerland" ">05y" "0" "re" "" "" "2237/17" "00288333" "" "" "" "1" "" "03543" "" "" "F" "no" "Italy" ">33y" "0" "" "" "white" "156" "00291027" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291028" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295450" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295940" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302773" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "F" "" "Canada" "" "0" "" "" "" "893.339" "00302882" "" "" "" "1" "" "00006" "{PMID:Srivastava 2018:29322350}" "2-generation family, 2 affected, unaffected parents, patient has sister with similar phenotype and same variant" "M" "" "United States" "" "0" "" "" "" "Pat3" "00302993" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat38" "00302994" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat39" "00302995" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat40" "00311193" "" "" "" "1" "" "00006" "{PMID:Allou 2012:22739344}" "" "F" "" "" "" "0" "" "" "" "" "00311194" "" "" "" "1" "" "00006" "{PMID:Allou 2012:22739344}" "" "M" "" "" "" "0" "" "" "" "" "00311195" "" "" "" "1" "" "00006" "{PMID:Das 2014:24412290}" "" "F" "" "" "" "0" "" "" "" "" "00311196" "" "" "" "1" "" "00006" "{PMID:De Bruyn 2014:24388699}" "" "M" "" "" "" "0" "" "" "" "" "00311197" "" "" "" "1" "" "00006" "{PMID:De Filippis 2012:22091895}" "" "F" "" "" "" "0" "" "" "" "" "00311198" "" "" "" "1" "" "00006" "{PMID:De Filippis 2012:22091895}" "" "F" "" "" "" "0" "" "" "" "" "00311199" "" "" "" "1" "" "00006" "{PMID:Diebold 2014:24766421}" "" "M" "" "" "" "0" "" "" "" "" "00311200" "" "" "" "1" "" "00006" "{PMID:Ellaway 2012:22968132}" "" "F" "" "" "" "0" "" "" "" "" "00311201" "" "" "" "1" "" "00006" "{PMID:McMahon 2015:26364767}" "" "M" "" "" "" "0" "" "" "" "" "00311202" "" "" "" "1" "" "00006" "{PMID:McMahon 2015:26364767}" "" "F" "" "" "" "0" "" "" "" "" "00311203" "" "" "" "1" "" "00006" "{PMID:McMahon 2015:26364767}" "" "F" "" "" "" "0" "" "" "" "" "00311204" "" "" "" "1" "" "00006" "{PMID:Meneret 2012:21953941}" "" "F" "" "" "" "0" "" "" "" "" "00311205" "" "" "" "1" "" "00006" "{PMID:Roche-Martinez 2012:21488007}" "" "F" "" "" "" "0" "" "" "" "" "00311206" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311207" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311208" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311209" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311210" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311211" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311212" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311213" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311214" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311215" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311216" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311217" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311218" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311219" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311220" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311221" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311222" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311223" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "F" "" "" "" "0" "" "" "" "" "00311224" "" "" "" "1" "" "00006" "{PMID:Seltzer 2014:24836831}" "" "M" "" "" "" "0" "" "" "" "" "00311225" "" "" "" "1" "" "00006" "{PMID:Takahashi 2012:22129046}" "" "F" "" "" "" "0" "" "" "" "" "00311226" "" "" "" "1" "" "00006" "{PMID:Takahashi 2012:22129046}" "" "F" "" "" "" "0" "" "" "" "" "00311227" "" "" "" "1" "" "00006" "submitted to RettBASE" "" "M" "" "" "" "0" "" "" "" "" "00311228" "" "" "" "1" "" "00006" "submitted to RettBASE" "" "M" "" "" "" "0" "" "" "" "" "00311230" "" "" "" "1" "" "00006" "submitted to RettBASE" "" "F" "" "" "" "0" "" "" "" "" "00311231" "" "" "" "1" "" "00006" "submitted to RettBASE" "" "F" "" "" "" "0" "" "" "" "" "00314884" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio61" "00375653" "" "" "" "2" "" "00006" "{PMID:Srivastava 2014:25131622}" "family, several affected" "" "" "United States" "" "0" "" "" "" "Pat46" "00391789" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "161P" "00396954" "" "" "" "22" "" "00006" "{PMID:Ye 2021:33257509}" "7-generation family, 22 affected (13F, 9M)" "F;M" "" "Canada" "" "0" "" "" "Europe" "family" "00432295" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "199556" "00434858" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC47" "00449549" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00453351" "" "" "" "1" "" "00006" "{PMID:Ghasemi 2024:39103847}" "3-generation family, 1 affected, unaffected non carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam2PatIII1" "00455837" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat77" "00466871" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 130 "{{individualid}}" "{{diseaseid}}" "00000239" "00067" "00000240" "00000" "00000241" "00066" "00000242" "00065" "00000243" "00000" "00000244" "00066" "00000246" "00000" "00000247" "00065" "00000248" "00066" "00000249" "00066" "00000250" "00066" "00000251" "00066" "00000252" "00000" "00000253" "00065" "00000254" "00000" "00000255" "00065" "00000256" "00065" "00000257" "00065" "00000258" "00065" "00000259" "00066" "00000260" "00065" "00000261" "00000" "00000262" "00000" "00000263" "00066" "00000264" "00066" "00000265" "00066" "00000266" "00066" "00000267" "00066" "00000268" "00065" "00035861" "00198" "00035862" "00198" "00035863" "00198" "00035864" "00198" "00035869" "00198" "00035870" "00198" "00081041" "00065" "00144429" "00198" "00144511" "00198" "00181081" "05162" "00229650" "00198" "00250299" "00066" "00260914" "05162" "00260915" "05162" "00260916" "05162" "00260917" "05162" "00260918" "05162" "00260919" "05162" "00260920" "05162" "00260921" "05162" "00260922" "05162" "00260923" "05162" "00260924" "05162" "00260925" "05162" "00260926" "05162" "00260927" "05162" "00260928" "05162" "00260929" "05162" "00260930" "05162" "00260931" "05162" "00260932" "05162" "00260933" "05162" "00260934" "05162" "00260935" "05162" "00260936" "05162" "00260937" "05162" "00260938" "05162" "00260939" "05162" "00260940" "05162" "00260941" "05162" "00260942" "05162" "00260943" "05162" "00288326" "00066" "00288333" "00066" "00291027" "00198" "00291028" "00198" "00295450" "00198" "00295940" "00198" "00302773" "00139" "00302882" "00139" "00302993" "05521" "00302994" "05521" "00302995" "05521" "00311193" "00198" "00311194" "00198" "00311195" "00198" "00311196" "00198" "00311197" "00198" "00311198" "00198" "00311199" "00198" "00311200" "00198" "00311201" "00198" "00311202" "00198" "00311203" "00198" "00311204" "00198" "00311205" "00198" "00311206" "00198" "00311207" "00198" "00311208" "00198" "00311209" "00198" "00311210" "00198" "00311211" "00198" "00311212" "00198" "00311213" "00198" "00311214" "00198" "00311215" "00198" "00311216" "00198" "00311217" "00198" "00311218" "00198" "00311219" "00198" "00311220" "00198" "00311221" "00198" "00311222" "00198" "00311223" "00198" "00311224" "00198" "00311225" "00198" "00311226" "00198" "00311227" "00198" "00311228" "00198" "00311230" "00198" "00311231" "00198" "00314884" "00198" "00375653" "00198" "00391789" "00065" "00396954" "00198" "00432295" "00065" "00434858" "00198" "00449549" "05611" "00453351" "00138" "00455837" "00198" "00466871" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00065, 00066, 00067, 00138, 00139, 00198, 05162, 05521, 05611 ## Count = 102 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060610" "00065" "00081041" "01758" "Isolated (sporadic)" "" "Rett syndrome, congenital variant (OMIM:613454)" "" "" "" "" "" "" "" "" "" "" "" "0000117197" "00198" "00144429" "01807" "Unknown" "" "Encephalopathy (HP:0001298); Epileptic encephalopathy (HP:0200134); Postnatal microcephaly (HP:0005484); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000117249" "00198" "00144511" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143333" "05162" "00181081" "02552" "Unknown" "" "HP:0000252\r\nHP:0001263" "" "" "" "" "" "" "" "" "" "" "" "0000155753" "00198" "00207984" "01164" "Unknown" "" "HP:0100660 (Dyskinesia); HP:0000252 (Microcephaly); HP:0008936 (Muscular hypotonia of the trunk); HP:0001382 (Joint hypermobility); HP:0002307 (Drooling); HP:0012758 (Neurodevelopmental delay); HP:0001344 (Absent speech); HP:0001250 (Seizures); HP:0002133 (Status epilepticus); HP:0002305 (Athetosis); HP:0002487 (Hyperkinesis); HP:0002650 (Scoliosis)" "" "" "" "" "" "" "" "" "" "" "" "0000156290" "00198" "00035861" "01164" "Unknown" "" "epilepsy, severe retardation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000156291" "00198" "00035862" "01164" "Unknown" "" "epilepsy, severe mental retardation" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000156292" "00198" "00035863" "01164" "Unknown" "" "mental retardation since delivery, BNS-epilepsy since the second year of life, hypotonia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000156293" "00198" "00035864" "01164" "Unknown" "" "congenital Rett syndrome" "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000156294" "00198" "00035869" "01164" "Unknown" "" "severe global developmental delay, BNS-Epilepsie, status post West syndrome" "" "" "" "" "" "" "" "" "" "global abnormal development" "" "0000156295" "00198" "00035870" "01164" "Unknown" "" "epilepsy syndrom,hypotonia since the first year of life, since the fifth month of life therapy-resistant West-Syndrom" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000157218" "00198" "00208546" "01164" "Unknown" "" "HP:0012638 (Abnormality of nervous system physiology); HP:0002376 (Developmental regression)" "" "" "" "" "" "" "" "" "" "" "" "0000172875" "00198" "00229650" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000199447" "05162" "00260914" "00006" "Isolated (sporadic)" "40m" "developmental delay, microcephaly, dyskinesia, cMRI: corpus callosum anomaly; not walking; functional hand use; 26m-started expressive speech, 6 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199448" "05162" "00260915" "00006" "Isolated (sporadic)" "51m" "developmental delay, microcephaly, epilepsy, cMRI: simplified gyral pattern, delay of myelinisation; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; strabism; no nystagmus; no abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 21m-onset epileptic seizures; seizures; focal, generalised tonic-clonic seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199449" "05162" "00260916" "00006" "Isolated (sporadic)" "33m" "developmental delay, microcephaly, hypotonia, epilepsy; 24m-assisted sitting; not walking; no functional hand use; 21m-started expressive speech, 4 words; no stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; no eye contact; unexplained episodes of crying; 24m-onset epileptic seizures; seizures; infantile spasms, generalized tonic seizures, generalized tonic-clonic activity, febrile seizures; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199450" "05162" "00260917" "00006" "Isolated (sporadic)" "8y4m" "developmental delay, microcephaly, hypotonia, cMRI: pachygyria, corpus callosum anomaly; 48m-assisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; good eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199451" "05162" "00260918" "00006" "Isolated (sporadic)" "8y9m" "developmental delay, microcephaly, hypotonia, cMRI: pachygyria; 24m-assisted sitting; 60m-walking; assisted walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; 55m-onset epileptic seizures; seizures; antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199452" "05162" "00260919" "00006" "Isolated (sporadic)" "39m" "developmental delay, microcephaly, epilepsy, strabism, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; 54m-started expressive speech, 4 words; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; no eye contact; unexplained episodes of crying; 6m-onset epileptic seizures; seizures; focal-tonic, tonic-clonic generalised seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; abnormal breathing patterns; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199453" "05162" "00260920" "00006" "Isolated (sporadic)" "72m" "developmental delay, microcephaly, hypotonia, stereotypic movements, epilepsy; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; hypotonia; spasticity; strabism; no nystagmus; unexplained episodes of crying; 11m-onset epileptic seizures; seizures; myoclonic seizures; low antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; constipation; abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199454" "05162" "00260921" "00006" "Isolated (sporadic)" "45m" "severe developmental delay, neonatal hypotonia, poor eye contact, impaired social interaction, microcephaly, cMRI: corpus callosum anomaly, septooptic dysplasia; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; seizures; antiepileptic treatment response; feeding difficulties; constipation; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199455" "05162" "00260922" "00006" "Isolated (sporadic)" "61m" "developmental delay, microcephaly, cMRI: corpus callosum anomaly; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 11m-onset epileptic seizures; seizures; symptomatic epilepsy; good antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199456" "05162" "00260923" "00006" "Isolated (sporadic)" "30m" "developmental delay, microcephaly, cMRI: simplified gyral pattern; not able to sit; not walking; no functional hand use; no speech; no stereotypic movements; hypotonia; strabism; no nystagmus; abnormal sleep patterns; good eye contact; no seizures; G-Tube feeding; gastroesophageal reflux; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199457" "05162" "00260924" "00006" "Isolated (sporadic)" "82m" "developmental delay, hypotonia, strabism, epilepsy; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; 33m-started expressive speech, 100 words; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; no abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 24m-onset epileptic seizures; seizures; focal seizures; good antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199458" "05162" "00260925" "00006" "Isolated (sporadic)" "34m" "developmental delay, microcephaly, hypotonia; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; no speech; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 34m-onset epileptic seizures; seizures; febrile seizures; good antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199459" "05162" "00260926" "00006" "Isolated (sporadic)" "85m" "developmental delay, hypotonia, epilepsy, cMRI: delayed myelination; 24m-unassisted sitting; 72m-walking ; walking; functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; 5m-onset epileptic seizures; seizures; status epilepticus, febrile seizures; antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; aspiration; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199460" "05162" "00260927" "00006" "Isolated (sporadic)" "93m" "developmental delay, regression, epilepsy; 9m-unassisted sitting; 42m-walking; walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; abnormal sleep patterns; good social interaction; no eye contact; no unexplained episodes of crying; 72m-onset epileptic seizures; seizures; tonic-myoclonic, tonic-clonic seizures; low antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199461" "05162" "00260928" "00006" "Isolated (sporadic)" "16y" "profound developmental delay, epilepsy, cleft palate, cMRI: corpus callosum anomalie; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic clonic seizures, absence, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; no gastroesophageal reflux; aspiration; constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199462" "05162" "00260929" "00006" "Isolated (sporadic)" "62m" "developmental delay, hypotonia, infantile spasms, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; no strabism; abnormal sleep patterns; good social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic seizures, myoclonic, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; aspiration; constipation; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199463" "05162" "00260930" "00006" "Isolated (sporadic)" "20m" "developmental delay, microcephaly; 30m-unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; no constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199464" "05162" "00260931" "00006" "Isolated (sporadic)" "33m" "developmental delay, microcephaly; 30m-unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; no constipation; no hypersalivation; bruxism; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199465" "05162" "00260932" "00006" "Isolated (sporadic)" "72m" "developmental delay, regression, microcephaly, epilepsy, hypotonia, sleep disorder, dystrophy, cMRI: corpus callosum anomaly, delayed myelination; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; abnormal sleep patterns; good social interaction; good eye contact; 36m-onset epileptic seizures; seizures; generalized seizures; feeding difficulties; constipation; hypersalivation; abnormal breathing patterns; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199466" "05162" "00260933" "00006" "Isolated (sporadic)" "25m" "developmental delay, microcephaly; 56m-unassisted sitting; assisted walking; no functional hand use; 84m-started expressive speech, 20 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; no seizures; no feeding difficulties; constipation; hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199467" "05162" "00260934" "00006" "Isolated (sporadic)" "46m" "developmental delay, microcephaly; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; no spasticity; no strabism; no nystagmus; no abnormal sleep patterns; good social interaction; poor eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199468" "05162" "00260935" "00006" "Isolated (sporadic)" "28m" "developmental delay, dystrophy, microcephaly, epilepsy, hypotonia, spasticity, stereotypic movements: washing hands; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; no abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; 24m-onset epileptic seizures; seizures; tonic febrile seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; constipation; hypersalivation; bruxism; abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199469" "05162" "00260936" "00006" "Isolated (sporadic)" "31m" "developmental delay, microcephaly, facial dysmorphism; 15m-unassisted sitting; 24m-walking; assisted walking; no functional hand use; 26m-started expressive speech, 5 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; feeding difficulties; gastroesophageal reflux; aspiration; no constipation; hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199470" "05162" "00260937" "00006" "Isolated (sporadic)" "14m" "developmental delay, microcephaly, failure to thrive, cMRI: delayed myelination; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; nystagmus; no abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; G-Tube feeding; gastroesophageal reflux; aspiration; no constipation; no hypersalivation; no bruxism; abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199471" "05162" "00260938" "00006" "Isolated (sporadic)" "89m" "developmental delay, hypotonia, facial dysmorphism; 24m-unassisted sitting; 48m-walking; assisted walking; functional hand use; 42m-started expressive speech, 20 words; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; abnormal sleep patterns; good social interaction; good eye contact; no seizures; no feeding difficulties; gastroesophageal reflux; aspiration; constipation; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199472" "05162" "00260939" "00006" "Isolated (sporadic)" "31m" "developmental delay, epilepsy, hypotonia; not able to sit; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; abnormal sleep patterns; good social interaction; 8m-onset epileptic seizures; seizures; complex partial seizures; good antiepileptic treatment response; no feeding difficulties; gastroesophageal reflux; constipation; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199473" "05162" "00260940" "00006" "Isolated (sporadic)" "17y" "epileptic encephalopathy, developmental delay, regression; 11m-unassisted sitting; 11y-walking; walking; functional hand use; expressive speech 10 words; stereotypic movements; no dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; no seizures; no antiepileptic treatment; no feeding difficulties; no gastroesophageal reflux; no aspiration; constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199474" "05162" "00260941" "00006" "Isolated (sporadic)" "16y" "developmental delay, spasticity, dyskinesia, stereotypic movements, cMRI: simplified gyral pattern; unassisted sitting; not walking; functional hand use; no speech; stereotypic movements; dyskinesia; spasticity; no nystagmus; abnormal sleep patterns; good social interaction; poor eye contact; unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; gastroesophageal reflux; constipation; hypersalivation; bruxism; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199475" "05162" "00260942" "00006" "Isolated (sporadic)" "33m" "developmental delay, microcephaly, hypotonia, dystrophy; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; no eye contact; no unexplained episodes of crying; 62m-onset epileptic seizures; seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; aspiration; no constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199476" "05162" "00260943" "00006" "Isolated (sporadic)" "47m" "developmental delay, microcephaly, spasticity, dyskinesia; 12-unassisted sitting; 47m-walking; assisted walking; functional hand use; 24m-started expressive speech, 30 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; unexplained episodes of crying; no seizures; feeding difficulties; gastroesophageal reflux; no aspiration; constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; no corpus callosum anomalies; no cortical anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000222031" "00066" "00288326" "03543" "Isolated (sporadic)" "01y06m" "Gastroesophageal reflux\r\nConstipation\r\nIntellectual disability, severe\r\nPoor eye contact\r\nTongue thrusting" "00y03m" "01y06m" "microcephaly" "" "" "" "" "" "Rett syndrome, congenital variant" "Rett Syndrome" "" "0000222037" "00066" "00288333" "03543" "Isolated (sporadic)" "10y" "Constipation\r\nIntellectual disability, severe\r\nMotor delay\r\nSeizures\r\nDystonia\r\nApraxia\r\nPoor eye contact\r\nDevelopmental regression\r\nBruxism\r\nDrooling\r\nEEG abnormality" "00y03m" "22y" "microcephaly" "" "" "" "" "" "Rett syndrome congenital variant" "Angelman syndrome" "" "0000223416" "00198" "00295940" "01164" "Unknown" "" "Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000229855" "00139" "00302773" "00006" "Isolated (sporadic)" "21y" "severe intellectual disability; no speech; not walking; intractable eplilepsy; no autistic features; primary microcephaly; no macrocephaly; MRI brain normal; spastic, choreoathetosis, dysmetria, hyperreflexic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; scolosis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000229960" "00139" "00302882" "00006" "Familial, autosomal dominant" "" "see paper; ..., intellectual disability, epilepsy, postnatal microcephaly, hand-wringing" "" "" "" "" "" "" "" "" "" "intellectual disability, RETT-like syndrome" "" "0000230076" "05521" "00302993" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms evolving to Lennox-Gastaut syndrome; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230077" "05521" "00302994" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230078" "05521" "00302995" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000231186" "00066" "00000264" "00006" "Isolated (sporadic)" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "Rett syndrome, congenital variant" "Rett syndrome" "" "0000231187" "00066" "00000266" "00006" "Isolated (sporadic)" "07y" "see paper; ..." "" "" "" "" "" "" "" "" "Rett syndrome, congenital variant" "Rett syndrome" "" "0000231188" "00066" "00000265" "00006" "Isolated (sporadic)" "22y" "see paper; ..., severe RTT-like neurodevelopmental disorder" "" "" "" "" "" "" "" "" "Rett syndrome, congenital variant" "Rett syndrome" "" "0000231189" "00066" "00000267" "00006" "Isolated (sporadic)" "10y" "see paper; ..., classical clinical RTT presentation." "" "" "" "" "" "" "" "" "Rett syndrome, congenital variant" "Rett syndrome" "" "0000236441" "00198" "00311193" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000236442" "00198" "00311194" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000236443" "00198" "00311195" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000236444" "00198" "00311196" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236445" "00198" "00311197" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236446" "00198" "00311198" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236447" "00198" "00311199" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236448" "00198" "00311200" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000236449" "00198" "00311201" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236450" "00198" "00311202" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236451" "00198" "00311203" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236452" "00198" "00311204" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236453" "00198" "00311205" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Rett syndrome" "" "0000236454" "00198" "00311206" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236455" "00198" "00311207" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236456" "00198" "00311208" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236457" "00198" "00311209" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236458" "00198" "00311210" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236459" "00198" "00311211" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236460" "00198" "00311212" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236461" "00198" "00311213" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236462" "00198" "00311214" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236463" "00198" "00311215" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236464" "00198" "00311216" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236465" "00198" "00311217" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236466" "00198" "00311218" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236467" "00198" "00311219" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236468" "00198" "00311220" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236469" "00198" "00311221" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236470" "00198" "00311222" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236471" "00198" "00311223" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236472" "00198" "00311224" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236473" "00198" "00311225" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236474" "00198" "00311226" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236475" "00198" "00311227" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236476" "00198" "00311228" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236478" "00198" "00311230" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000236479" "00198" "00311231" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000238642" "00198" "00314884" "00006" "Isolated (sporadic)" "6y" "Progressive microcephaly, profound intellectual disability, severe chorea (low axial, high appendicular), flexor non-epileptic spasms, small ventral septal defect, gastroesophageal reflux, hypospadias, changing tonus, strabismus, hyperactive deep tendon reflex." "6m" "" "" "" "" "" "" "" "" "" "" "0000270866" "00198" "00375653" "00006" "Isolated (sporadic)" "" "progressive; developmental regression; intellectual disability/developmental delay; microcephaly; seizures; choreoathetosis; hyper-reflexia; MRI brain pachygyria, white matter changes" "" "22y" "" "" "" "" "" "" "" "" "" "0000290112" "00198" "00396954" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "strabismus" "" "0000322863" "00065" "00432295" "01164" "Isolated (sporadic)" "" "Delayed speech and language development, Delayed gross motor development, Impaired social interactions, Axial hypotonia, Abnormal intestine morphology, Chronic diarrhea, Delayed fine motor development" "" "" "" "" "" "" "" "" "1y" "" "" "0000325097" "00198" "00434858" "00006" "Isolated (sporadic)" "" "global developmental delay or intellectual disability, seizures, central nervous system anomalies, congenital microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000338723" "05611" "00449549" "00006" "Isolated (sporadic)" "8y10m" "see paper; ..., umbilical cord around neck at birth, forceps-assisted delivery, torticollis; developmental delay and/or intellectual disability; delayed speech, delayed language; behavioral disturbances; no hypotonia; focal seizures, epileptiform discharges in the right central region; brain MRI/CTmild thinning corpus callosum, mild diffuse cerebral volume loss; dextrocardia, common atrium, CAVC defect, IAA, patent ductus arteriosus; hypospadias, undescended testes, chordee; jejunal atresia, midline liver; down-slanting palpebral fissures, flattened nasal bridge; unknown coagulopathy; spleen on right; polysplenia syndrome" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" "" "0000342014" "00138" "00453351" "00006" "Isolated (sporadic)" "18y" "developmental delay, intellectual disability, learning disability, autism, epilepsy, language/speech delay, ADHD, repetitive movement and behavior, no anxiety disorder, no muscular dystrophy, no hypotonia, normal gait, obesity, no acrophobia" "" "" "" "" "" "" "" "" "RETT" "syndromic autism" "" "0000344370" "00198" "00455837" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Rett syndrome" "neurogenetic diseases" "" "0000352235" "05611" "00466871" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0010864, HP:0001250, HP:0000717, HP:0000729, HP:0000271, HP:0100554, HP:0004322, HP:0040195" "" "" "" "" "" "" "" "" "RETT SYNDROME, CONGENITAL VARIANT" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 137 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000249" "00000239" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000250" "00000240" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000251" "00000241" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000252" "00000242" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000253" "00000243" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000254" "00000244" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000255" "00000245" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000256" "00000246" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000257" "00000247" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000258" "00000248" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000259" "00000249" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000260" "00000250" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000261" "00000251" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000262" "00000252" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000263" "00000253" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000264" "00000254" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000265" "00000255" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000266" "00000256" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000267" "00000257" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000268" "00000258" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000269" "00000259" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000270" "00000260" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000271" "00000261" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000272" "00000262" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000273" "00000263" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000274" "00000264" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000275" "00000265" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000276" "00000266" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000277" "00000267" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000000278" "00000268" "1" "00042" "00008" "2012-11-05 10:39:48" "" "" "SEQ" "DNA" "" "" "0000035931" "00035861" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035932" "00035862" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035933" "00035863" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035934" "00035864" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035935" "00035865" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035936" "00035866" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035937" "00035867" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035938" "00035868" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035939" "00035869" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035940" "00035870" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081153" "00081041" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145287" "00144429" "0" "01807" "01807" "2017-12-13 15:17:20" "" "" "SEQ" "DNA" "" "" "0000145368" "00144511" "0" "01807" "01807" "2017-12-15 14:21:19" "" "" "SEQ" "DNA" "" "" "0000182030" "00181081" "1" "02552" "02552" "2018-09-24 14:02:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000209031" "00207984" "1" "01164" "01164" "2018-12-06 11:38:03" "" "" "SEQ-NG" "DNA" "" "" "0000209594" "00208546" "1" "01164" "01164" "2018-12-10 11:04:35" "" "" "SEQ-NG" "DNA" "" "" "0000230743" "00229650" "1" "01807" "01807" "2019-04-08 10:01:29" "" "" "SEQ" "DNA" "" "" "0000251404" "00250299" "1" "03128" "03128" "2019-08-06 11:57:03" "" "" "SEQ-NG-IT" "DNA" "" "" "0000262019" "00260914" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262020" "00260915" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262021" "00260916" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262022" "00260917" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262023" "00260918" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262024" "00260919" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262025" "00260920" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262026" "00260921" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262027" "00260922" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262028" "00260923" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262029" "00260924" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262030" "00260925" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262031" "00260926" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262032" "00260927" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262033" "00260928" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262034" "00260929" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262035" "00260930" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262036" "00260931" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262037" "00260932" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262038" "00260933" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262039" "00260934" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262040" "00260935" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262041" "00260936" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262042" "00260937" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262043" "00260938" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262044" "00260939" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000262045" "00260940" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262046" "00260941" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "gene panel" "0000262047" "00260942" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ" "DNA" "" "" "0000262048" "00260943" "1" "00006" "00006" "2019-08-09 15:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000289495" "00288326" "1" "03543" "03543" "2020-02-19 18:53:28" "" "" "SEQ-NG" "DNA" "Blood" "" "0000289502" "00288333" "1" "03543" "03543" "2020-02-20 17:49:18" "" "" "DHPLC;SSCA" "DNA" "" "" "0000292195" "00291027" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292196" "00291028" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296618" "00295450" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297112" "00295940" "1" "01164" "01164" "2020-03-30 10:44:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000303899" "00302773" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304008" "00302882" "1" "00006" "00006" "2020-06-02 21:28:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000304118" "00302993" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304119" "00302994" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304120" "00302995" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000312351" "00311193" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312352" "00311194" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312353" "00311195" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312354" "00311196" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312355" "00311197" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312356" "00311198" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312357" "00311199" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312358" "00311200" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312359" "00311201" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312360" "00311202" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312361" "00311203" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312362" "00311204" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312363" "00311205" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312364" "00311206" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312365" "00311207" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312366" "00311208" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312367" "00311209" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312368" "00311210" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312369" "00311211" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312370" "00311212" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312371" "00311213" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312372" "00311214" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312373" "00311215" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312374" "00311216" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312375" "00311217" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312376" "00311218" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312377" "00311219" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312378" "00311220" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312379" "00311221" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312380" "00311222" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312381" "00311223" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312382" "00311224" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312383" "00311225" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312384" "00311226" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312385" "00311227" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312386" "00311228" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312388" "00311230" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000312389" "00311231" "1" "00006" "00006" "2020-09-22 08:21:04" "" "" "SEQ" "DNA" "" "" "0000316058" "00314884" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000376850" "00375653" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000393032" "00391789" "1" "02494" "02494" "2021-11-19 10:53:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000398196" "00396954" "1" "00006" "00006" "2021-12-17 16:27:29" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000433735" "00432295" "1" "01164" "01164" "2023-02-21 11:54:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000436330" "00434858" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451139" "00449549" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454962" "00453351" "1" "00006" "00006" "2024-08-19 11:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457453" "00455837" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000468536" "00466871" "1" "03544" "03544" "2025-09-26 12:34:23" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 122 "{{screeningid}}" "{{geneid}}" "0000000249" "FOXG1" "0000000250" "FOXG1" "0000000251" "FOXG1" "0000000252" "FOXG1" "0000000253" "FOXG1" "0000000254" "FOXG1" "0000000255" "FOXG1" "0000000256" "FOXG1" "0000000257" "FOXG1" "0000000258" "FOXG1" "0000000259" "FOXG1" "0000000260" "FOXG1" "0000000261" "FOXG1" "0000000262" "FOXG1" "0000000263" "FOXG1" "0000000264" "FOXG1" "0000000265" "FOXG1" "0000000266" "FOXG1" "0000000267" "FOXG1" "0000000268" "FOXG1" "0000000269" "FOXG1" "0000000270" "FOXG1" "0000000271" "FOXG1" "0000000272" "FOXG1" "0000000273" "FOXG1" "0000000274" "FOXG1" "0000000275" "FOXG1" "0000000276" "FOXG1" "0000000277" "FOXG1" "0000000278" "FOXG1" "0000035931" "FOXG1" "0000035932" "FOXG1" "0000035933" "FOXG1" "0000035934" "FOXG1" "0000035935" "FOXG1" "0000035936" "FOXG1" "0000035937" "FOXG1" "0000035938" "FOXG1" "0000035939" "FOXG1" "0000035940" "FOXG1" "0000081153" "FOXG1" "0000251404" "FOXG1" "0000262019" "FOXG1" "0000262020" "FOXG1" "0000262021" "FOXG1" "0000262022" "FOXG1" "0000262023" "FOXG1" "0000262024" "FOXG1" "0000262025" "FOXG1" "0000262026" "FOXG1" "0000262027" "FOXG1" "0000262028" "FOXG1" "0000262029" "FOXG1" "0000262030" "FOXG1" "0000262031" "FOXG1" "0000262032" "FOXG1" "0000262033" "FOXG1" "0000262034" "FOXG1" "0000262035" "FOXG1" "0000262036" "FOXG1" "0000262037" "FOXG1" "0000262038" "FOXG1" "0000262039" "FOXG1" "0000262040" "FOXG1" "0000262041" "FOXG1" "0000262042" "FOXG1" "0000262043" "FOXG1" "0000262044" "FOXG1" "0000262045" "FOXG1" "0000262046" "FOXG1" "0000262047" "FOXG1" "0000262048" "FOXG1" "0000289495" "FOXG1" "0000289502" "CDKL5" "0000289502" "FOXG1" "0000289502" "MECP2" "0000303899" "FOXG1" "0000304008" "FOXG1" "0000304118" "FOXG1" "0000304119" "FOXG1" "0000304120" "FOXG1" "0000312351" "FOXG1" "0000312352" "FOXG1" "0000312353" "FOXG1" "0000312354" "FOXG1" "0000312355" "FOXG1" "0000312356" "FOXG1" "0000312357" "FOXG1" "0000312358" "FOXG1" "0000312359" "FOXG1" "0000312360" "FOXG1" "0000312361" "FOXG1" "0000312362" "FOXG1" "0000312363" "FOXG1" "0000312364" "FOXG1" "0000312365" "FOXG1" "0000312366" "FOXG1" "0000312367" "FOXG1" "0000312368" "FOXG1" "0000312369" "FOXG1" "0000312370" "FOXG1" "0000312371" "FOXG1" "0000312372" "FOXG1" "0000312373" "FOXG1" "0000312374" "FOXG1" "0000312375" "FOXG1" "0000312376" "FOXG1" "0000312377" "FOXG1" "0000312378" "FOXG1" "0000312379" "FOXG1" "0000312380" "FOXG1" "0000312381" "FOXG1" "0000312382" "FOXG1" "0000312383" "FOXG1" "0000312384" "FOXG1" "0000312385" "FOXG1" "0000312386" "FOXG1" "0000312388" "FOXG1" "0000312389" "FOXG1" "0000316058" "FOXG1" "0000398196" "FOXG1" "0000433735" "FOXG1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 197 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000016155" "0" "15" "14" "29236644" "29236646" "dup" "0" "00042" "FOXG1_000023" "g.29236644_29236646dup" "" "{PMID:Van der Aa 2011:22190898}" "" "" "carrier unaffected father" "Germline" "" "" "" "" "" "g.28767438_28767440dup" "" "benign" "" "0000016156" "0" "15" "14" "29236644" "29236646" "dup" "0" "00042" "FOXG1_000023" "g.29236644_29236646dup" "" "{PMID:Van der Aa 2011:22190898}" "" "" "carrier daughter with encephalopathy" "Germline" "" "" "" "" "" "g.28767438_28767440dup" "" "benign" "" "0000016157" "0" "95" "14" "29236741" "29236741" "subst" "0" "00042" "FOXG1_000019" "g.29236741C>T" "" "{PMID:Kortum 2011:21441262}" "" "" "not in mother" "Unknown" "" "" "" "" "" "g.28767535C>T" "" "pathogenic" "" "0000016158" "0" "95" "14" "29236741" "29236741" "dup" "0" "00042" "FOXG1_000020" "g.29236741dup" "" "{PMID:Le Guen 2011:20734096}" "" "" "" "De novo" "" "" "" "" "" "g.28767535dup" "" "pathogenic" "" "0000016159" "0" "95" "14" "29236748" "29236763" "del" "0" "00042" "FOXG1_000021" "g.29236748_29236763del" "" "{PMID:Kortum 2011:21441262} (Das)" "" "" "" "Unknown" "" "" "" "" "" "g.28767542_28767557del" "" "pathogenic" "" "0000016160" "0" "95" "14" "29236748" "29236763" "del" "0" "00042" "FOXG1_000021" "g.29236748_29236763del" "" "{PMID:Kortum 2011:21441262}" "" "" "" "De novo" "" "" "" "" "" "g.28767542_28767557del" "" "pathogenic" "" "0000016161" "0" "15" "14" "29236811" "29236811" "subst" "0" "00042" "FOXG1_000022" "g.29236811C>T" "" "{PMID:Le Guen 2011:21270142}" "" "" "Carrier heterozygous healthy father" "Germline" "" "" "" "" "" "g.28767605C>T" "" "benign" "" "0000016162" "0" "15" "14" "29236811" "29236811" "subst" "0" "00042" "FOXG1_000022" "g.29236811C>T" "" "{PMID:Le Guen 2011:21270142}" "" "" "" "Unknown" "" "" "" "" "" "g.28767605C>T" "" "benign" "" "0000016163" "0" "95" "14" "29236945" "29236945" "dup" "0" "00042" "FOXG1_000012" "g.29236945dup" "" "{PMID:Bahi-Buisson 2010:19806373}" "" "" "" "De novo" "" "" "" "" "" "g.28767739dup" "" "pathogenic" "" "0000016164" "0" "95" "14" "29236945" "29236945" "dup" "0" "00042" "FOXG1_000012" "g.29236945dup" "" "{PMID:Kortum 2011:21441262}" "" "" "" "Unknown" "" "" "" "" "" "g.28767739dup" "" "pathogenic" "" "0000016165" "0" "95" "14" "29236945" "29236945" "dup" "0" "00042" "FOXG1_000012" "g.29236945dup" "" "{PMID:Kortum 2011:21441262}" "" "" "" "De novo" "" "" "" "" "" "g.28767739dup" "" "pathogenic" "" "0000016166" "0" "95" "14" "29236945" "29236945" "dup" "0" "00042" "FOXG1_000012" "g.29236945dup" "" "{PMID:Van der Aa 2011:22190898}" "" "" "" "De novo" "" "" "" "" "" "g.28767739dup" "" "pathogenic" "" "0000016167" "0" "95" "14" "29236990" "29236991" "delins" "0" "00042" "FOXG1_000013" "g.29236990_29236991delinsT" "" "{PMID:Kortum 2011:21441262}" "" "" "" "De novo" "" "" "" "" "" "g.28767784_28767785delinsT" "" "pathogenic" "" "0000016168" "0" "95" "14" "29236990" "29236991" "delins" "0" "00042" "FOXG1_000013" "g.29236990_29236991delinsT" "" "{PMID:Kortum 2011:21441262} (Das)" "" "" "" "Unknown" "" "" "" "" "" "g.28767784_28767785delinsT" "" "pathogenic" "" "0000016169" "0" "95" "14" "29237037" "29237037" "dup" "0" "00042" "FOXG1_000014" "g.29237037dup" "" "{PMID:Mencarelli 2010:19578037}" "" "" "" "De novo" "" "" "" "" "" "g.28767831dup" "" "pathogenic" "" "0000016170" "1" "95" "14" "29237048" "29237048" "subst" "0" "00042" "FOXG1_000015" "g.29237048C>G" "" "{PMID:Kortum 2011:21441262} (Das)" "" "c.[563C>G;644_645delinsCT] p.[A188G(;)F215S]" "" "De novo" "" "" "" "" "" "g.28767842C>G" "" "pathogenic" "" "0000016171" "1" "95" "14" "29237129" "29237130" "delins" "0" "00042" "FOXG1_000001" "g.29237129_29237130delinsCT" "" "{PMID:Kortum 2011:21441262} (Das)" "" "c.[563C>G;644_645delinsCT] p.[A188G(;)F215S]" "" "De novo" "" "" "" "" "" "g.28767923_28767924delinsCT" "" "pathogenic" "" "0000016172" "0" "95" "14" "29237062" "29237062" "subst" "0" "00042" "FOXG1_000016" "g.29237062G>A" "" "{PMID:Van der Aa 2011:22190898}" "" "" "" "De novo" "" "" "" "" "" "g.28767856G>A" "" "pathogenic" "" "0000016173" "0" "95" "14" "29237109" "29237109" "subst" "0" "00042" "FOXG1_000017" "g.29237109C>G" "" "{PMID:Mencarelli 2010:19578037}" "" "" "" "De novo" "" "" "" "" "" "g.28767903C>G" "" "pathogenic" "" "0000016174" "0" "95" "14" "29237128" "29237128" "subst" "0" "00042" "FOXG1_000018" "g.29237128T>C" "" "{PMID:Mencarelli 2010:19578037}" "" "" "" "De novo" "" "" "" "" "" "g.28767922T>C" "" "pathogenic" "" "0000016175" "0" "55" "14" "29237166" "29237166" "subst" "0" "00042" "FOXG1_000002" "g.29237166C>G" "" "{PMID:Mencarelli 2010:19578037}" "" "" "" "Unknown" "" "" "" "" "" "g.28767960C>G" "" "VUS" "" "0000016176" "0" "95" "14" "29237185" "29237185" "subst" "0" "00042" "FOXG1_000003" "g.29237185T>C" "" "{PMID:Kortum 2011:21441262}" "" "" "" "De novo" "" "" "" "" "" "g.28767979T>C" "" "pathogenic" "" "0000016177" "0" "95" "14" "29237215" "29237215" "subst" "0" "00042" "FOXG1_000004" "g.29237215C>T" "" "{PMID:Le Guen 2011:21270142}" "" "" "" "De novo" "" "" "" "" "" "g.28768009C>T" "" "pathogenic" "" "0000016178" "0" "95" "14" "29237240" "29237240" "subst" "0" "00042" "FOXG1_000005" "g.29237240G>T" "" "{PMID:Kortum 2011:21441262} (Das)" "" "" "" "De novo" "" "" "" "" "" "g.28768034G>T" "" "pathogenic" "" "0000016179" "0" "95" "14" "29237242" "29237242" "subst" "0" "00042" "FOXG1_000006" "g.29237242A>G" "" "{PMID:Kortum 2011:21441262} (Das)" "" "" "" "De novo" "" "" "" "" "" "g.28768036A>G" "" "pathogenic" "" "0000016180" "0" "95" "14" "29237242" "29237242" "subst" "0" "00042" "FOXG1_000006" "g.29237242A>G" "" "{PMID:Kortum 2011:21441262}" "" "" "" "De novo" "" "" "" "" "" "g.28768036A>G" "" "pathogenic" "" "0000016181" "0" "95" "14" "29237250" "29237250" "subst" "0" "00006" "FOXG1_000007" "g.29237250G>A" "" "{PMID:Ariani 2008:18571142}" "" "" "" "De novo" "" "" "0" "" "" "g.28768044G>A" "" "pathogenic (dominant)" "" "0000016182" "0" "90" "14" "29237409" "29237409" "subst" "0" "00006" "FOXG1_000008" "g.29237409G>A" "" "{PMID:Philippe 2010:19564653}" "" "" "" "De novo" "" "" "0" "" "" "g.28768203G>A" "" "pathogenic (dominant)" "" "0000016183" "0" "95" "14" "29237454" "29237454" "del" "0" "00006" "FOXG1_000009" "g.29237454del" "" "{PMID:Ariani 2008:18571142}" "" "969delC" "" "De novo" "" "" "0" "" "" "g.28768248del" "" "pathogenic (dominant)" "" "0000016184" "0" "90" "14" "29237685" "29237685" "subst" "0" "00006" "FOXG1_000010" "g.29237685C>G" "" "{PMID:Philippe 2010:19564653}" "" "" "" "De novo" "" "" "0" "" "" "g.28768479C>G" "" "pathogenic (dominant)" "" "0000016185" "0" "95" "14" "29237733" "29237733" "subst" "0" "00042" "FOXG1_000011" "g.29237733C>G" "" "{PMID:Bahi-Buisson 2010:19806373}" "" "" "" "De novo" "" "" "" "" "" "g.28768527C>G" "" "pathogenic" "" "0000063056" "1" "50" "14" "29236932" "29236932" "subst" "0.00109453" "01164" "FOXG1_000031" "g.29236932C>T" "" "" "" "" "" "Germline" "" "rs112803404" "0" "" "" "g.28767726C>T" "" "VUS" "" "0000063057" "1" "50" "14" "29236875" "29236875" "subst" "0" "01164" "FOXG1_000030" "g.29236875G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767669G>C" "" "VUS" "" "0000063058" "1" "50" "14" "29237859" "29237859" "subst" "0" "01164" "FOXG1_000027" "g.29237859C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28768653C>T" "" "VUS" "" "0000063059" "1" "90" "14" "29236945" "29236945" "dup" "0" "01164" "FOXG1_000012" "g.29236945dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic" "" "0000063060" "1" "50" "14" "29237176" "29237176" "subst" "0" "01164" "FOXG1_000026" "g.29237176C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767970C>T" "" "VUS" "" "0000063061" "1" "50" "14" "29236875" "29236875" "subst" "0" "01164" "FOXG1_000030" "g.29236875G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767669G>C" "" "VUS" "" "0000063062" "1" "10" "14" "29237968" "29237968" "subst" "0.0165478" "01164" "FOXG1_000028" "g.29237968C>A" "" "" "" "" "" "Germline" "" "rs151157846" "0" "" "" "g.28768762C>A" "" "benign" "" "0000063063" "1" "10" "14" "29238055" "29238055" "del" "0" "01164" "FOXG1_000024" "g.29238055del" "" "" "" "" "" "Germline" "" "rs68024132" "0" "" "" "g.28768849del" "" "benign" "" "0000063064" "1" "50" "14" "29236974" "29236974" "subst" "0" "01164" "FOXG1_000025" "g.29236974C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767768C>T" "" "VUS" "" "0000063065" "1" "50" "14" "29236782" "29236782" "subst" "0" "01164" "FOXG1_000029" "g.29236782C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.28767576C>A" "" "VUS" "" "0000130239" "0" "70" "14" "29236870" "29236870" "subst" "0" "01758" "FOXG1_000032" "g.29236870G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.28767664G>T" "" "likely pathogenic" "ACMG" "0000236386" "0" "90" "14" "29236964" "29236964" "del" "0" "01807" "FOXG1_000033" "g.29236964del" "" "" "" "479delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.28767758del" "" "pathogenic" "" "0000236481" "0" "90" "14" "29237405" "29237405" "dup" "0" "01807" "FOXG1_000034" "g.29237405dup" "" "" "" "920dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.28768199dup" "" "pathogenic" "" "0000280862" "0" "30" "14" "29237808" "29237808" "subst" "0.000247768" "02325" "FOXG1_000043" "g.29237808C>T" "" "" "" "FOXG1(NM_005249.4):c.1323C>T (p.S441=), FOXG1(NM_005249.5):c.1323C>T (p.S441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28768602C>T" "" "likely benign" "" "0000280863" "0" "30" "14" "29236932" "29236932" "subst" "0.00109453" "02325" "FOXG1_000031" "g.29236932C>T" "" "" "" "FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767726C>T" "" "likely benign" "" "0000283311" "0" "90" "14" "29237068" "29237068" "del" "0" "02329" "FOXG1_000038" "g.29237068del" "" "" "" "FOXG1(NM_005249.5):c.583delC (p.R195Gfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767862del" "" "pathogenic" "" "0000283312" "0" "70" "14" "29237129" "29237129" "subst" "0" "02329" "FOXG1_000039" "g.29237129T>G" "" "" "" "FOXG1(NM_005249.5):c.644T>G (p.F215C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767923T>G" "" "likely pathogenic" "" "0000284080" "0" "10" "14" "29237968" "29237968" "subst" "0.0165478" "02326" "FOXG1_000028" "g.29237968C>A" "" "" "" "FOXG1(NM_005249.5):c.*13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28768762C>A" "" "benign" "" "0000284081" "0" "10" "14" "29238055" "29238055" "del" "0" "02326" "FOXG1_000024" "g.29238055del" "" "" "" "FOXG1(NM_005249.5):c.*100delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28768849del" "" "benign" "" "0000284082" "0" "30" "14" "29237808" "29237808" "subst" "0.000247768" "02326" "FOXG1_000043" "g.29237808C>T" "" "" "" "FOXG1(NM_005249.4):c.1323C>T (p.S441=), FOXG1(NM_005249.5):c.1323C>T (p.S441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28768602C>T" "" "likely benign" "" "0000284083" "0" "30" "14" "29236988" "29236988" "subst" "0" "02326" "FOXG1_000036" "g.29236988G>C" "" "" "" "FOXG1(NM_005249.5):c.503G>C (p.G168A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767782G>C" "" "likely benign" "" "0000284084" "0" "70" "14" "29237046" "29237046" "subst" "0" "02326" "FOXG1_000037" "g.29237046C>G" "" "" "" "FOXG1(NM_005249.5):c.561C>G (p.N187K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767840C>G" "" "likely pathogenic" "" "0000284085" "0" "70" "14" "29237140" "29237140" "subst" "0" "02326" "FOXG1_000040" "g.29237140C>G" "" "" "" "FOXG1(NM_005249.5):c.655C>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767934C>G" "" "likely pathogenic" "" "0000287849" "0" "30" "14" "29236736" "29236736" "subst" "0" "01943" "FOXG1_000035" "g.29236736C>A" "" "" "" "FOXG1(NM_005249.4):c.251C>A (p.P84H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767530C>A" "" "likely benign" "" "0000287850" "0" "30" "14" "29236932" "29236932" "subst" "0.00109453" "01943" "FOXG1_000031" "g.29236932C>T" "" "" "" "FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767726C>T" "" "likely benign" "" "0000287851" "0" "30" "14" "29237337" "29237337" "subst" "7.84677E-5" "01943" "FOXG1_000041" "g.29237337G>A" "" "" "" "FOXG1(NM_005249.4):c.852G>A (p.L284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28768131G>A" "" "likely benign" "" "0000341181" "0" "30" "14" "29236932" "29236932" "subst" "0.00109453" "02327" "FOXG1_000031" "g.29236932C>T" "" "" "" "FOXG1(NM_005249.4):c.447C>T (p.A149=), FOXG1(NM_005249.5):c.447C>T (p.A149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767726C>T" "" "likely benign" "" "0000342195" "0" "70" "14" "29237087" "29237087" "subst" "0" "02327" "FOXG1_000048" "g.29237087G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767881G>C" "" "likely pathogenic" "" "0000346630" "0" "90" "14" "29237105" "29237105" "subst" "0" "02327" "FOXG1_000049" "g.29237105T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767899T>G" "" "pathogenic" "" "0000347985" "0" "70" "14" "29237130" "29237130" "subst" "0" "02327" "FOXG1_000050" "g.29237130C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767924C>G" "" "likely pathogenic" "" "0000349733" "0" "90" "14" "29237158" "29237158" "subst" "0" "02327" "FOXG1_000051" "g.29237158T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28767952T>C" "" "pathogenic" "" "0000405844" "0" "70" "14" "29237186" "29237186" "subst" "0" "02552" "FOXG1_000053" "g.29237186C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.28767980C>T" "" "likely pathogenic" "" "0000439117" "0" "90" "14" "29236741" "29236741" "dup" "0" "01164" "FOXG1_000020" "g.29236741dup" "" "" "" "" "ACMG grading: PM2,PP5,PVS1,PM6; reported in Le Guen 2011. Neurogenetics 12: 1; Trump 2016. J Med Genet 53: 310" "Germline" "" "rs786205002" "0" "" "" "g.28767535dup" "" "pathogenic" "ACMG" "0000439752" "0" "90" "14" "29236741" "29236741" "del" "0" "01164" "FOXG1_000055" "g.29236741del" "" "" "" "" "ACMG grading: PVS1,PP5,PM6,PM2; confirmed with sanger-sequencing; reported in Allou 2012. EJHG 20: 1216; Cellini 2016. DevMedChild 58: 93" "Germline" "" "rs786205001" "0" "" "" "g.28767535del" "" "pathogenic" "ACMG" "0000472361" "0" "90" "14" "29237653" "29237653" "dup" "0" "01807" "FOXG1_000056" "g.29237653dup" "" "" "" "1168dupT" "" "Unknown" "" "" "0" "" "" "g.28768447dup" "" "pathogenic" "" "0000552461" "0" "50" "14" "29236603" "29236605" "del" "0" "02325" "FOXG1_000057" "g.29236603_29236605del" "" "" "" "FOXG1(NM_005249.5):c.118_120delCAC (p.H40del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767397_28767399del" "" "VUS" "" "0000552462" "0" "30" "14" "29236686" "29236686" "subst" "0" "01943" "FOXG1_000058" "g.29236686G>T" "" "" "" "FOXG1(NM_005249.4):c.201G>T (p.P67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767480G>T" "" "likely benign" "" "0000552464" "0" "50" "14" "29236716" "29236721" "del" "0" "01943" "FOXG1_000060" "g.29236716_29236721del" "" "" "" "FOXG1(NM_005249.4):c.231_236delGCCGCC (p.P79_P80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767510_28767515del" "" "VUS" "" "0000552465" "0" "30" "14" "29236774" "29236774" "subst" "0" "02327" "FOXG1_000061" "g.29236774A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767568A>G" "" "likely benign" "" "0000552466" "0" "30" "14" "29236974" "29236974" "subst" "0" "01943" "FOXG1_000025" "g.29236974C>T" "" "" "" "FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767768C>T" "" "likely benign" "" "0000552467" "0" "30" "14" "29236974" "29236974" "subst" "0" "02325" "FOXG1_000025" "g.29236974C>T" "" "" "" "FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767768C>T" "" "likely benign" "" "0000552468" "0" "10" "14" "29236974" "29236974" "subst" "0" "02326" "FOXG1_000025" "g.29236974C>T" "" "" "" "FOXG1(NM_005249.4):c.489C>T (p.G163=), FOXG1(NM_005249.5):c.489C>T (p.G163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767768C>T" "" "benign" "" "0000552470" "0" "70" "14" "29237130" "29237130" "subst" "0" "02327" "FOXG1_000063" "g.29237130C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767924C>A" "" "likely pathogenic" "" "0000552471" "0" "90" "14" "29237138" "29237138" "subst" "0" "02327" "FOXG1_000064" "g.29237138A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767932A>C" "" "pathogenic" "" "0000552472" "0" "50" "14" "29237255" "29237255" "subst" "0" "01943" "FOXG1_000065" "g.29237255T>G" "" "" "" "FOXG1(NM_005249.4):c.770T>G (p.L257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768049T>G" "" "VUS" "" "0000552473" "0" "90" "14" "29237329" "29237329" "del" "0" "02329" "FOXG1_000066" "g.29237329del" "" "" "" "FOXG1(NM_005249.5):c.844delG (p.A282Pfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768123del" "" "pathogenic" "" "0000552474" "0" "30" "14" "29237364" "29237364" "subst" "0" "01943" "FOXG1_000067" "g.29237364C>T" "" "" "" "FOXG1(NM_005249.4):c.879C>T (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768158C>T" "" "likely benign" "" "0000552475" "0" "50" "14" "29237488" "29237488" "subst" "0" "02327" "FOXG1_000068" "g.29237488C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768282C>G" "" "VUS" "" "0000552476" "0" "50" "14" "29237563" "29237563" "subst" "0" "01804" "FOXG1_000069" "g.29237563A>T" "" "" "" "FOXG1(NM_005249.4):c.1078A>T (p.(Asn360Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768357A>T" "" "VUS" "" "0000552477" "0" "50" "14" "29237567" "29237567" "subst" "0" "01804" "FOXG1_000070" "g.29237567G>C" "" "" "" "FOXG1(NM_005249.4):c.1082G>C (p.(Gly361Ala)), FOXG1(NM_005249.5):c.1082G>C (p.G361A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768361G>C" "" "VUS" "" "0000552478" "0" "30" "14" "29237715" "29237715" "subst" "0" "01943" "FOXG1_000071" "g.29237715C>G" "" "" "" "FOXG1(NM_005249.4):c.1230C>G (p.L410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768509C>G" "" "likely benign" "" "0000552479" "0" "30" "14" "29237808" "29237808" "subst" "0.000247768" "01943" "FOXG1_000043" "g.29237808C>T" "" "" "" "FOXG1(NM_005249.4):c.1323C>T (p.S441=), FOXG1(NM_005249.5):c.1323C>T (p.S441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768602C>T" "" "likely benign" "" "0000580975" "0" "90" "14" "29237173" "29237173" "subst" "0" "03128" "FOXG1_000072" "g.29237173C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.28767967C>T" "" "pathogenic" "" "0000592154" "0" "90" "14" "29236741" "29236741" "del" "0" "00006" "FOXG1_000055" "g.29236741del" "" "{PMID:Mitter 2018:28661489}" "" "256delC" "" "De novo" "" "" "0" "" "" "g.28767535del" "" "pathogenic (dominant)" "ACMG" "0000592155" "0" "90" "14" "29236699" "29236699" "subst" "0" "00006" "FOXG1_000073" "g.29236699C>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767493C>T" "" "pathogenic (dominant)" "ACMG" "0000592156" "0" "90" "14" "29236891" "29236891" "subst" "0" "00006" "FOXG1_000075" "g.29236891G>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767685G>T" "" "pathogenic (dominant)" "ACMG" "0000592157" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Mitter 2018:28661489}" "" "460dupG" "" "De novo" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "ACMG" "0000592158" "0" "90" "14" "29236870" "29236870" "del" "0" "00006" "FOXG1_000074" "g.29236870del" "" "{PMID:Mitter 2018:28661489}" "" "385delG" "" "De novo" "" "" "0" "" "" "g.28767664del" "" "pathogenic (dominant)" "ACMG" "0000592159" "0" "90" "14" "29236945" "29236945" "del" "0" "00006" "FOXG1_000076" "g.29236945del" "" "{PMID:Mitter 2018:28661489}" "" "460delG" "" "De novo" "" "" "0" "" "" "g.28767739del" "" "pathogenic (dominant)" "ACMG" "0000592160" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Mitter 2018:28661489}" "" "460dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "ACMG" "0000592161" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Mitter 2018:28661489}" "" "460dupG" "" "De novo" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "ACMG" "0000592162" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Mitter 2018:28661489}" "" "460dupG" "" "De novo" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "ACMG" "0000592163" "0" "90" "14" "29237002" "29237002" "subst" "0" "00006" "FOXG1_000077" "g.29237002G>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767796G>T" "" "pathogenic (dominant)" "ACMG" "0000592164" "0" "90" "14" "29237028" "29237028" "subst" "0" "00006" "FOXG1_000078" "g.29237028G>C" "" "{PMID:Mitter 2018:28661489}" "" "" "parental gonadal mosaicism" "Germline" "" "" "0" "" "" "g.28767822G>C" "" "pathogenic (dominant)" "ACMG" "0000592165" "0" "90" "14" "29237028" "29237028" "subst" "0" "00006" "FOXG1_000078" "g.29237028G>C" "" "{PMID:Mitter 2018:28661489}" "" "" "parental gonadal mosaicism" "Germline" "" "" "0" "" "" "g.28767822G>C" "" "pathogenic (dominant)" "ACMG" "0000592166" "0" "90" "14" "29237030" "29237030" "subst" "0" "00006" "FOXG1_000079" "g.29237030C>A" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767824C>A" "" "pathogenic (dominant)" "ACMG" "0000592167" "0" "70" "14" "29237038" "29237038" "subst" "0" "00006" "FOXG1_000080" "g.29237038A>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767832A>T" "" "likely pathogenic (dominant)" "ACMG" "0000592168" "0" "90" "14" "29237046" "29237046" "subst" "0" "00006" "FOXG1_000081" "g.29237046C>A" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767840C>A" "" "pathogenic (dominant)" "ACMG" "0000592169" "0" "90" "14" "29237046" "29237046" "subst" "0" "00006" "FOXG1_000081" "g.29237046C>A" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767840C>A" "" "pathogenic (dominant)" "ACMG" "0000592170" "0" "90" "14" "29237050" "29237050" "subst" "0" "00006" "FOXG1_000082" "g.29237050C>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767844C>T" "" "pathogenic (dominant)" "ACMG" "0000592171" "0" "90" "14" "29237050" "29237050" "subst" "0" "00006" "FOXG1_000082" "g.29237050C>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767844C>T" "" "pathogenic (dominant)" "ACMG" "0000592172" "0" "70" "14" "29237066" "29237066" "subst" "0" "00006" "FOXG1_000083" "g.29237066T>G" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767860T>G" "" "likely pathogenic (dominant)" "ACMG" "0000592173" "0" "70" "14" "29237077" "29237079" "del" "0" "00006" "FOXG1_000085" "g.29237077_29237079del" "" "{PMID:Mitter 2018:28661489}" "" "592_594delCCC" "" "De novo" "" "" "0" "" "" "g.28767871_28767873del" "" "likely pathogenic (dominant)" "ACMG" "0000592174" "0" "90" "14" "29237096" "29237103" "del" "0" "00006" "FOXG1_000086" "g.29237096_29237103del" "" "{PMID:Mitter 2018:28661489}" "" "609_616delGCTCAACG" "" "De novo" "" "" "0" "" "" "g.28767890_28767897del" "" "pathogenic (dominant)" "ACMG" "0000592175" "0" "90" "14" "29237109" "29237109" "subst" "0" "00006" "FOXG1_000017" "g.29237109C>G" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767903C>G" "" "pathogenic (dominant)" "ACMG" "0000592176" "0" "90" "14" "29237215" "29237215" "subst" "0" "00006" "FOXG1_000004" "g.29237215C>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28768009C>T" "" "pathogenic (dominant)" "ACMG" "0000592177" "0" "90" "14" "29237217" "29237226" "del" "0" "00006" "FOXG1_000087" "g.29237217_29237226del" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28768011_28768020del" "" "pathogenic (dominant)" "ACMG" "0000592178" "0" "90" "14" "29237459" "29237459" "dup" "0" "00006" "FOXG1_000090" "g.29237459dup" "" "{PMID:Mitter 2018:28661489}" "" "974dupT" "" "De novo" "" "" "0" "" "" "g.28768253dup" "" "pathogenic (dominant)" "ACMG" "0000592179" "0" "90" "14" "29237567" "29237567" "dup" "0" "00006" "FOXG1_000091" "g.29237567dup" "" "{PMID:Mitter 2018:28661489}" "" "1082dupG" "" "De novo" "" "" "0" "" "" "g.28768361dup" "" "pathogenic (dominant)" "ACMG" "0000592180" "0" "90" "14" "29237626" "29237626" "del" "0" "00006" "FOXG1_000092" "g.29237626del" "" "{PMID:Mitter 2018:28661489}" "" "1141delG" "" "De novo" "" "" "0" "" "" "g.28768420del" "" "pathogenic (dominant)" "ACMG" "0000592181" "0" "70" "14" "29237240" "29237240" "subst" "0" "00006" "FOXG1_000088" "g.29237240G>A" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28768034G>A" "" "likely pathogenic (dominant)" "ACMG" "0000592182" "0" "90" "14" "29237406" "29237406" "subst" "0" "00006" "FOXG1_000089" "g.29237406C>G" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28768200C>G" "" "pathogenic (dominant)" "ACMG" "0000592183" "0" "90" "14" "29237075" "29237075" "subst" "0" "00006" "FOXG1_000084" "g.29237075G>T" "" "{PMID:Mitter 2018:28661489}" "" "" "" "De novo" "" "" "0" "" "" "g.28767869G>T" "" "pathogenic (dominant)" "ACMG" "0000614947" "0" "90" "14" "29236702" "29236702" "subst" "0" "02329" "FOXG1_000093" "g.29236702C>T" "" "" "" "FOXG1(NM_005249.5):c.217C>T (p.Q73*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767496C>T" "" "pathogenic" "" "0000614948" "0" "30" "14" "29236719" "29236721" "dup" "0" "01804" "FOXG1_000094" "g.29236719_29236721dup" "" "" "" "FOXG1(NM_005249.4):c.218_219insGCC (p.(Pro80dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767513_28767515dup" "" "likely benign" "" "0000645466" "0" "90" "14" "29237173" "29237173" "subst" "0" "03543" "FOXG1_000072" "g.29237173C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.28767967C>T" "" "pathogenic (dominant)" "" "0000645473" "0" "90" "14" "29237250" "29237250" "subst" "0" "03543" "FOXG1_000007" "g.29237250G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.28768044G>A" "" "pathogenic (dominant)" "" "0000648884" "1" "90" "14" "29237215" "29237215" "subst" "0" "03575" "FOXG1_000004" "g.29237215C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205009}" "Germline" "" "rs786205009" "0" "" "" "g.28768009C>T" "" "pathogenic" "" "0000648885" "1" "70" "14" "29237240" "29237240" "subst" "0" "03575" "FOXG1_000005" "g.29237240G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783640}" "Germline" "" "rs587783640" "0" "" "" "g.28768034G>T" "" "likely pathogenic" "" "0000653307" "1" "90" "14" "29236783" "29236783" "del" "0" "03575" "FOXG1_000095" "g.29236783del" "2/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783636}" "Germline" "" "rs587783636" "0" "" "" "g.28767577del" "" "pathogenic" "" "0000657435" "0" "50" "14" "29237059" "29237059" "subst" "0" "02327" "FOXG1_000096" "g.29237059A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28767853A>C" "" "VUS" "" "0000657436" "0" "50" "14" "29237777" "29237777" "subst" "0" "02325" "FOXG1_000097" "g.29237777G>A" "" "" "" "FOXG1(NM_005249.5):c.1292G>A (p.S431N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28768571G>A" "" "VUS" "" "0000659728" "0" "50" "14" "29237780" "29237780" "subst" "0" "01164" "FOXG1_000098" "g.29237780C>T" "" "" "" "" "15 y old patient with profound neurodevelopmental delay" "Germline" "" "rs1040115321" "0" "" "" "g.28768574C>T" "" "VUS" "ACMG" "0000667301" "0" "70" "14" "29236991" "29236991" "del" "0" "00006" "FOXG1_000099" "g.29236991del" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.28767785del" "" "pathogenic (dominant)" "" "0000667399" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Srivastava 2018:29322350}" "" "460dupG" "germline mosaicism mother" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000667516" "0" "90" "14" "29237046" "29237046" "subst" "0" "00006" "FOXG1_000081" "g.29237046C>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.28767840C>A" "" "pathogenic (dominant)" "ACMG" "0000667517" "0" "90" "14" "29237046" "29237046" "subst" "0" "00006" "FOXG1_000037" "g.29237046C>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.28767840C>G" "" "pathogenic (dominant)" "ACMG" "0000667518" "0" "90" "14" "29237567" "29237567" "dup" "0" "00006" "FOXG1_000091" "g.29237567dup" "" "{PMID:Helbig 2016:26795593}" "" "1082dupG" "" "De novo" "" "" "0" "" "" "g.28768361dup" "" "pathogenic (dominant)" "ACMG" "0000693943" "0" "90" "14" "29236741" "29236741" "dup" "0" "00006" "FOXG1_000020" "g.29236741dup" "" "{PMID:Allou 2012:22739344}" "" "256dupC" "" "Unknown" "" "" "0" "" "" "g.28767535dup" "" "pathogenic (dominant)" "" "0000693944" "0" "90" "14" "29236741" "29236741" "del" "0" "00006" "FOXG1_000055" "g.29236741del" "" "{PMID:Allou 2012:22739344}" "" "256delC" "" "Unknown" "" "" "0" "" "" "g.28767535del" "" "pathogenic (dominant)" "" "0000693945" "0" "90" "14" "29237273" "29237277" "del" "0" "00006" "FOXG1_000044" "g.29237273_29237277del" "" "{PMID:Das 2014:24412290}" "" "788_792delACGTG" "" "Unknown" "" "" "0" "" "" "g.28768067_28768071del" "" "pathogenic (dominant)" "" "0000693946" "0" "90" "14" "29236991" "29236991" "dup" "0" "00006" "FOXG1_000054" "g.29236991dup" "" "{PMID:De Bruyn 2014:24388699}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767785dup" "" "pathogenic (dominant)" "" "0000693947" "0" "90" "14" "29236621" "29236621" "subst" "0" "00006" "FOXG1_000101" "g.29236621C>T" "" "{PMID:De Filippis 2012:22091895}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767415C>T" "" "pathogenic (dominant)" "" "0000693948" "0" "90" "14" "29237685" "29237685" "subst" "0" "00006" "FOXG1_000113" "g.29237685C>A" "" "{PMID:De Filippis 2012:22091895}" "" "" "" "Unknown" "" "" "0" "" "" "g.28768479C>A" "" "pathogenic (dominant)" "" "0000693949" "0" "70" "14" "29237459" "29237460" "ins" "0" "00006" "FOXG1_000112" "g.29237459_29237460insA" "" "{PMID:Diebold 2014:24766421}" "" "" "" "Unknown" "" "" "0" "" "" "g.28768253_28768254insA" "" "likely pathogenic (dominant)" "" "0000693950" "0" "90" "14" "29236741" "29236741" "dup" "0" "00006" "FOXG1_000020" "g.29236741dup" "" "{PMID:Ellaway 2012:22968132}" "" "256dupC" "" "Unknown" "" "" "0" "" "" "g.28767535dup" "" "pathogenic (dominant)" "" "0000693951" "0" "70" "14" "29237057" "29237057" "subst" "0" "00006" "FOXG1_000105" "g.29237057T>G" "" "{PMID:McMahon 2015:26364767}" "" "" "" "Germline" "" "" "0" "" "" "g.28767851T>G" "" "likely pathogenic (dominant)" "" "0000693952" "0" "70" "14" "29237057" "29237057" "subst" "0" "00006" "FOXG1_000105" "g.29237057T>G" "" "{PMID:McMahon 2015:26364767}" "" "" "" "Germline" "" "" "0" "" "" "g.28767851T>G" "" "likely pathogenic (dominant)" "" "0000693953" "0" "70" "14" "29237057" "29237057" "subst" "0" "00006" "FOXG1_000105" "g.29237057T>G" "" "{PMID:McMahon 2015:26364767}" "" "" "" "Germline" "" "" "0" "" "" "g.28767851T>G" "" "likely pathogenic (dominant)" "" "0000693954" "0" "90" "14" "29237095" "29237095" "subst" "0" "00006" "FOXG1_000107" "g.29237095C>T" "" "{PMID:Meneret 2012:21953941}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767889C>T" "" "pathogenic (dominant)" "" "0000693955" "0" "90" "14" "29237109" "29237109" "subst" "0" "00006" "FOXG1_000017" "g.29237109C>G" "" "{PMID:Roche-Martinez 2012:21488007}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767903C>G" "" "pathogenic (dominant)" "" "0000693956" "0" "90" "14" "29236618" "29236954" "delins" "0" "00006" "FOXG1_000100" "g.29236618_29236954delinsACCCACCGCCCC" "" "{PMID:Seltzer 2014:24836831}" "" "133_469del337insACCCACCGCCCC" "" "Unknown" "" "" "0" "" "" "g.28767412_28767748delinsACCCACCGCCCC" "" "pathogenic (dominant)" "" "0000693957" "0" "90" "14" "29236707" "29236708" "dup" "0" "00006" "FOXG1_000102" "g.29236707_29236708dup" "" "{PMID:Seltzer 2014:24836831}" "" "222_223dupGC" "" "Unknown" "" "" "0" "" "" "g.28767501_28767502dup" "" "pathogenic (dominant)" "" "0000693958" "0" "90" "14" "29236741" "29236741" "subst" "0" "00006" "FOXG1_000019" "g.29236741C>T" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767535C>T" "" "pathogenic (dominant)" "" "0000693959" "0" "90" "14" "29236915" "29236915" "subst" "0" "00006" "FOXG1_000103" "g.29236915G>T" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767709G>T" "" "pathogenic (dominant)" "" "0000693960" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Unknown" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693961" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Unknown" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693962" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693963" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693964" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693965" "0" "90" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Seltzer 2014:24836831}" "" "460dupG" "" "Germline" "" "" "0" "" "" "g.28767739dup" "" "pathogenic (dominant)" "" "0000693966" "0" "90" "14" "29236991" "29236991" "del" "0" "00006" "FOXG1_000099" "g.29236991del" "" "{PMID:Seltzer 2014:24836831}" "" "506delG" "" "Unknown" "" "" "0" "" "" "g.28767785del" "" "pathogenic (dominant)" "" "0000693967" "0" "90" "14" "29237000" "29237062" "del" "0" "00006" "FOXG1_000104" "g.29237000_29237062del" "" "{PMID:Seltzer 2014:24836831}" "" "515_577del63" "" "Germline" "" "" "0" "" "" "g.28767794_28767856del" "" "pathogenic (dominant)" "" "0000693968" "0" "90" "14" "29237000" "29237062" "del" "0" "00006" "FOXG1_000104" "g.29237000_29237062del" "" "{PMID:Seltzer 2014:24836831}" "" "515_577del63" "" "Germline" "" "" "0" "" "" "g.28767794_28767856del" "" "pathogenic (dominant)" "" "0000693969" "0" "90" "14" "29237062" "29237062" "subst" "0" "00006" "FOXG1_000016" "g.29237062G>A" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767856G>A" "" "pathogenic (dominant)" "" "0000693970" "0" "90" "14" "29237071" "29237071" "subst" "0" "00006" "FOXG1_000106" "g.29237071C>T" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767865C>T" "" "pathogenic (dominant)" "" "0000693971" "0" "90" "14" "29237136" "29237136" "subst" "0" "00006" "FOXG1_000108" "g.29237136C>G" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767930C>G" "" "pathogenic (dominant)" "" "0000693972" "0" "90" "14" "29237220" "29237220" "del" "0" "00006" "FOXG1_000110" "g.29237220del" "" "{PMID:Seltzer 2014:24836831}" "" "735delC" "" "Unknown" "" "" "0" "" "" "g.28768014del" "" "pathogenic (dominant)" "" "0000693973" "0" "90" "14" "29237240" "29237240" "subst" "0" "00006" "FOXG1_000005" "g.29237240G>T" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28768034G>T" "" "pathogenic (dominant)" "" "0000693974" "0" "90" "14" "29237247" "29237247" "subst" "0" "00006" "FOXG1_000111" "g.29237247C>G" "" "{PMID:Seltzer 2014:24836831}" "" "" "" "Unknown" "" "" "0" "" "" "g.28768041C>G" "" "pathogenic (dominant)" "" "0000693975" "0" "90" "14" "29236741" "29236741" "dup" "0" "00006" "FOXG1_000020" "g.29236741dup" "" "{PMID:Takahashi 2012:22129046}" "" "256dupC" "" "Unknown" "" "" "0" "" "" "g.28767535dup" "" "pathogenic (dominant)" "" "0000693976" "0" "90" "14" "29237174" "29237174" "subst" "0" "00006" "FOXG1_000109" "g.29237174G>A" "" "{PMID:Takahashi 2012:22129046}" "" "" "" "Unknown" "" "" "0" "" "" "g.28767968G>A" "" "pathogenic (dominant)" "" "0000693977" "0" "90" "14" "29236748" "29236763" "del" "0" "00006" "FOXG1_000021" "g.29236748_29236763del" "" "submitted to RettBASE" "" "263_278del16" "" "Unknown" "" "" "0" "" "" "g.28767542_28767557del" "" "pathogenic (dominant)" "" "0000693978" "0" "90" "14" "29236990" "29236991" "delins" "0" "00006" "FOXG1_000013" "g.29236990_29236991delinsT" "" "submitted to RettBASE" "" "505_506delGGinsT" "" "Unknown" "" "" "0" "" "" "g.28767784_28767785delinsT" "" "pathogenic (dominant)" "" "0000693980" "0" "90" "14" "29237240" "29237240" "subst" "0" "00006" "FOXG1_000005" "g.29237240G>T" "" "submitted to RettBASE" "" "" "" "Unknown" "" "" "0" "" "" "g.28768034G>T" "" "pathogenic (dominant)" "" "0000693981" "0" "90" "14" "29237242" "29237242" "subst" "0" "00006" "FOXG1_000006" "g.29237242A>G" "" "submitted to RettBASE" "" "" "" "Unknown" "" "" "0" "" "" "g.28768036A>G" "" "pathogenic (dominant)" "" "0000698184" "0" "90" "14" "29236891" "29236891" "subst" "0" "00006" "FOXG1_000075" "g.29236891G>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.28767685G>T" "" "pathogenic (dominant)" "" "0000724752" "0" "90" "14" "29236741" "29236741" "dup" "0" "02329" "FOXG1_000020" "g.29236741dup" "" "" "" "FOXG1(NM_005249.5):c.256dup (p.(Gln86ProfsTer35)), FOXG1(NM_005249.5):c.256dupC (p.Q86Pfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724753" "0" "70" "14" "29237108" "29237108" "subst" "0" "02329" "FOXG1_000062" "g.29237108A>G" "" "" "" "FOXG1(NM_005249.5):c.623A>G (p.Y208C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724754" "0" "30" "14" "29237798" "29237798" "subst" "2.43752E-5" "02325" "FOXG1_000114" "g.29237798C>T" "" "" "" "FOXG1(NM_005249.5):c.1313C>T (p.A438V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788905" "0" "70" "14" "29236945" "29236945" "dup" "0" "00006" "FOXG1_000012" "g.29236945dup" "" "{PMID:Srivastava 2014:25131622}" "" "460dupG" "parental germline mosaicism" "De novo" "" "" "0" "" "" "g.28767739dup" "" "likely pathogenic" "" "0000806386" "0" "30" "14" "29236869" "29236869" "subst" "0" "02325" "FOXG1_000115" "g.29236869C>G" "" "" "" "FOXG1(NM_005249.5):c.384C>G (p.G128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806387" "0" "30" "14" "29237826" "29237826" "subst" "1.62463E-5" "01943" "FOXG1_000116" "g.29237826C>T" "" "" "" "FOXG1(NM_005249.4):c.1341C>T (p.A447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823618" "0" "70" "14" "29236964" "29236973" "del" "0" "02494" "FOXG1_000117" "g.29236964_29236973del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.28767758_28767767del" "" "likely pathogenic (dominant)" "" "0000830404" "1" "50" "14" "29247635" "29247638" "del" "0" "00006" "FOXG1_000118" "g.29247635_29247638del" "" "{PMID:Ye 2021:33257509}" "" "chr14:29247628TAAAC>T" "only likely causative variant identified; region mapped by linkage LOD score >4.60" "Germline" "yes" "" "0" "" "" "g.28778429_28778432del" "" "VUS (!)" "" "0000863550" "0" "90" "14" "29237143" "29237143" "subst" "0" "02329" "FOXG1_000119" "g.29237143G>T" "" "" "" "FOXG1(NM_005249.5):c.658G>T (p.E220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914188" "0" "90" "14" "29236945" "29236945" "del" "0" "02329" "FOXG1_000076" "g.29236945del" "" "" "" "FOXG1(NM_005249.5):c.460delG (p.E154Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914189" "0" "50" "14" "29237353" "29237353" "subst" "0" "02325" "FOXG1_000120" "g.29237353G>A" "" "" "" "FOXG1(NM_005249.5):c.868G>A (p.A290T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914190" "0" "50" "14" "29237549" "29237549" "subst" "0" "02327" "FOXG1_000121" "g.29237549C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914191" "0" "50" "14" "29237567" "29237567" "subst" "0" "02325" "FOXG1_000070" "g.29237567G>C" "" "" "" "FOXG1(NM_005249.4):c.1082G>C (p.(Gly361Ala)), FOXG1(NM_005249.5):c.1082G>C (p.G361A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000919376" "0" "70" "14" "29237045" "29237045" "subst" "0" "01164" "FOXG1_000122" "g.29237045A>G" "" "" "" "" "ACMG: PS2_MOD, PM1, PM5, PM2_SUP, PP2, confirmed de novo in trio-exome, p.Asn187Asp,Tyr,Lys are known pathogenic variants" "De novo" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000922692" "0" "90" "14" "29236662" "29236671" "del" "0" "00006" "FOXG1_000123" "g.29236662_29236671del" "" "{PMID:Gostain 2020:32960281}" "" "" "" "De novo" "" "" "0" "" "" "g.28767456_28767465del" "" "pathogenic (dominant)" "" "0000930299" "0" "70" "14" "29237663" "29237663" "subst" "0" "02327" "FOXG1_000124" "g.29237663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980868" "0" "90" "14" "29236741" "29236741" "dup" "0" "01804" "FOXG1_000020" "g.29236741dup" "" "" "" "FOXG1(NM_005249.5):c.256dup (p.(Gln86ProfsTer35)), FOXG1(NM_005249.5):c.256dupC (p.Q86Pfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980869" "0" "90" "14" "29236991" "29236991" "del" "0" "02325" "FOXG1_000099" "g.29236991del" "" "" "" "FOXG1(NM_005249.5):c.506delG (p.G169Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984916" "0" "70" "14" "29237910" "29237910" "subst" "0" "00006" "FOXG1_000125" "g.29237910C>G" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.28768704C>G" "" "VUS" "" "0000989922" "0" "90" "14" "29237048" "29237048" "subst" "0" "00006" "FOXG1_000047" "g.29237048C>A" "" "{PMID:Ghasemi 2024:39103847}" "" "" "ACMG PS2, PS4, PM1, PM2, PM5, PP2, PP3" "De novo" "" "" "0" "" "" "g.28767842C>A" "SCV001337647.1" "pathogenic (dominant)" "ACMG" "0001000955" "0" "30" "14" "29236626" "29236626" "subst" "0" "01804" "FOXG1_000126" "g.29236626C>G" "" "" "" "FOXG1(NM_005249.4):c.141C>G (p.(His47Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000956" "0" "30" "14" "29236698" "29236698" "subst" "0" "01804" "FOXG1_000127" "g.29236698G>C" "" "" "" "FOXG1(NM_005249.4):c.213G>C (p.(Gln71His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000957" "0" "30" "14" "29236713" "29236721" "dup" "0" "01804" "FOXG1_000128" "g.29236713_29236721dup" "" "" "" "FOXG1(NM_005249.4):c.228_236dupGCCGCCGCC (p.(Pro77_Pro79dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000958" "0" "30" "14" "29236886" "29236886" "subst" "0" "01804" "FOXG1_000129" "g.29236886C>G" "" "" "" "FOXG1(NM_005249.4):c.401C>G (p.(Pro134Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000959" "0" "90" "14" "29236945" "29236945" "subst" "0" "01804" "FOXG1_000130" "g.29236945G>T" "" "" "" "FOXG1(NM_005249.4):c.460G>T (p.(Glu154*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000960" "0" "50" "14" "29236952" "29236952" "subst" "0" "01804" "FOXG1_000131" "g.29236952A>G" "" "" "" "FOXG1(NM_005249.4):c.467A>G (p.(Lys156Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000961" "0" "50" "14" "29237093" "29237093" "subst" "0" "01804" "FOXG1_000132" "g.29237093C>G" "" "" "" "FOXG1(NM_005249.4):c.608C>G (p.(Thr203Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011956" "0" "90" "14" "29237496" "29237500" "dup" "0" "00006" "FOXG1_000133" "g.29237496_29237500dup" "" "{PMID:Salinas 2020:33084218}" "" "1007_1008insCCACC" "" "Unknown" "" "" "0" "" "" "g.28768290_28768294dup" "SUB7802909" "pathogenic" "" "0001048411" "0" "70" "14" "29237129" "29237129" "subst" "0" "03544" "FOXG1_000039" "g.29237129T>G" "" "" "" "" "located in the mutation hotspot (ACMG PM1 rule), different amimo acid changes are known pathogenic variants - p.(Phe215Ile) a p.(Phe215Leu) (ACMG PM5 rule)" "Germline" "-" "" "0" "" "" "g.28767923T>G" "" "likely pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FOXG1 ## Count = 197 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000016155" "00001723" "10" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(His57dup)" "1" "0000016156" "00001723" "10" "159" "0" "161" "0" "c.159_161dup" "r.(?)" "p.(His57dup)" "1" "0000016157" "00001723" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "1" "0000016158" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86Profs*35)" "1" "0000016159" "00001723" "90" "263" "0" "278" "0" "c.263_278del" "r.(?)" "p.(Arg88Profs*99)" "1" "0000016160" "00001723" "90" "263" "0" "278" "0" "c.263_278del" "r.(?)" "p.(Arg88Profs*99)" "1" "0000016161" "00001723" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "1" "0000016162" "00001723" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Pro109Leu)" "1" "0000016163" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "1" "0000016164" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "1" "0000016165" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "1" "0000016166" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "1" "0000016167" "00001723" "90" "505" "0" "506" "0" "c.505_506delinsT" "r.(?)" "p.(Gly169Serfs*23)" "1" "0000016168" "00001723" "90" "505" "0" "506" "0" "c.505_506delinsT" "r.(?)" "p.(Gly169Serfs*23)" "1" "0000016169" "00001723" "90" "552" "0" "552" "0" "c.552dup" "r.(?)" "p.(Ser185Glnfs*270)" "1" "0000016170" "00001723" "90" "563" "0" "563" "0" "c.563C>G" "r.(?)" "p.(Ala188Gly)" "1" "0000016171" "00001723" "90" "644" "0" "645" "0" "c.644_645delinsCT" "r.(?)" "p.(Phe215Ser)" "1" "0000016172" "00001723" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "1" "0000016173" "00001723" "90" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Tyr208*)" "1" "0000016174" "00001723" "70" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Phe215Leu)" "1" "0000016175" "00001723" "50" "681" "0" "681" "0" "c.681C>G" "r.(?)" "p.(Asn227Lys)" "1" "0000016176" "00001723" "90" "700" "0" "700" "0" "c.700T>C" "r.(?)" "p.(Ser234Pro)" "1" "0000016177" "00001723" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "1" "0000016178" "00001723" "90" "755" "0" "755" "0" "c.755G>T" "r.(?)" "p.(Gly252Val)" "1" "0000016179" "00001723" "90" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Asn253Asp)" "1" "0000016180" "00001723" "90" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Asn253Asp)" "1" "0000016181" "00001723" "90" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Trp255*)" "1" "0000016182" "00001723" "90" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Trp308*)" "1" "0000016183" "00001723" "90" "969" "0" "969" "0" "c.969del" "r.(?)" "p.(Ser323Argfs*3)" "1" "0000016184" "00001723" "90" "1200" "0" "1200" "0" "c.1200C>G" "r.(?)" "p.(Tyr400*)" "1" "0000016185" "00001723" "70" "1248" "0" "1248" "0" "c.1248C>G" "r.(?)" "p.(Tyr416*)" "1" "0000063056" "00001723" "50" "447" "0" "447" "0" "c.447C>T" "r.(=)" "p.(=)" "1" "0000063057" "00001723" "50" "390" "0" "390" "0" "c.390G>C" "r.(=)" "p.(=)" "1" "0000063058" "00001723" "50" "1374" "0" "1374" "0" "c.1374C>T" "r.(=)" "p.(=)" "1" "0000063059" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "1" "0000063060" "00001723" "50" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(His231Tyr)" "1" "0000063061" "00001723" "50" "390" "0" "390" "0" "c.390G>C" "r.(=)" "p.(=)" "1" "0000063062" "00001723" "10" "1483" "0" "1483" "0" "c.*13C>A" "r.(=)" "p.(=)" "1" "0000063063" "00001723" "10" "1570" "0" "1570" "0" "c.*100del" "r.(=)" "p.(=)" "1" "0000063064" "00001723" "50" "489" "0" "489" "0" "c.489C>T" "r.(=)" "p.(=)" "1" "0000063065" "00001723" "50" "297" "0" "297" "0" "c.297C>A" "r.(=)" "p.(=)" "1" "0000130239" "00001723" "70" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Glu129*)" "" "0000236386" "00001723" "90" "479" "0" "479" "0" "c.479del" "r.(?)" "p.(Gly160Alafs*32)" "" "0000236481" "00001723" "90" "920" "0" "920" "0" "c.920dup" "r.(?)" "p.(Tyr307*)" "" "0000280862" "00001723" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Ser441=)" "" "0000280863" "00001723" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ala149=)" "" "0000283311" "00001723" "90" "583" "0" "583" "0" "c.583del" "r.(?)" "p.(Arg195GlyfsTer18)" "" "0000283312" "00001723" "70" "644" "0" "644" "0" "c.644T>G" "r.(?)" "p.(Phe215Cys)" "" "0000284080" "00001723" "10" "1483" "0" "1483" "0" "c.*13C>A" "r.(=)" "p.(=)" "" "0000284081" "00001723" "10" "1570" "0" "1570" "0" "c.*100del" "r.(?)" "p.(=)" "" "0000284082" "00001723" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Ser441=)" "" "0000284083" "00001723" "30" "503" "0" "503" "0" "c.503G>C" "r.(?)" "p.(Gly168Ala)" "" "0000284084" "00001723" "70" "561" "0" "561" "0" "c.561C>G" "r.(?)" "p.(Asn187Lys)" "" "0000284085" "00001723" "70" "655" "0" "655" "0" "c.655C>G" "r.(?)" "p.(Arg219Gly)" "" "0000287849" "00001723" "30" "251" "0" "251" "0" "c.251C>A" "r.(?)" "p.(Pro84His)" "" "0000287850" "00001723" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ala149=)" "" "0000287851" "00001723" "30" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Leu284=)" "" "0000341181" "00001723" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ala149=)" "" "0000342195" "00001723" "70" "602" "0" "602" "0" "c.602G>C" "r.(?)" "p.(Arg201Pro)" "" "0000346630" "00001723" "90" "620" "0" "620" "0" "c.620T>G" "r.(?)" "p.(Ile207Ser)" "" "0000347985" "00001723" "70" "645" "0" "645" "0" "c.645C>G" "r.(?)" "p.(Phe215Leu)" "" "0000349733" "00001723" "90" "673" "0" "673" "0" "c.673T>C" "r.(?)" "p.(Trp225Arg)" "" "0000405844" "00001723" "70" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Ser234Phe)" "1" "0000439117" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.Gln86Profs*35" "" "0000439752" "00001723" "90" "256" "0" "256" "0" "c.256del" "r.(?)" "p.Gln86Argfs*106" "" "0000472361" "00001723" "90" "1168" "0" "1168" "0" "c.1168dup" "r.(?)" "p.(Cys390Leufs*65)" "" "0000552461" "00001723" "50" "118" "0" "120" "0" "c.118_120del" "r.(?)" "p.(His40del)" "" "0000552462" "00001723" "30" "201" "0" "201" "0" "c.201G>T" "r.(?)" "p.(Pro67=)" "" "0000552464" "00001723" "50" "231" "0" "236" "0" "c.231_236del" "r.(?)" "p.(Pro79_Pro80del)" "" "0000552465" "00001723" "30" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Lys97Glu)" "" "0000552466" "00001723" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Gly163=)" "" "0000552467" "00001723" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Gly163=)" "" "0000552468" "00001723" "10" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Gly163=)" "" "0000552470" "00001723" "70" "645" "0" "645" "0" "c.645C>A" "r.(?)" "p.(Phe215Leu)" "" "0000552471" "00001723" "90" "653" "0" "653" "0" "c.653A>C" "r.(?)" "p.(Tyr218Ser)" "" "0000552472" "00001723" "50" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Leu257Arg)" "" "0000552473" "00001723" "90" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Ala282ProfsTer44)" "" "0000552474" "00001723" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Thr293=)" "" "0000552475" "00001723" "50" "1003" "0" "1003" "0" "c.1003C>G" "r.(?)" "p.(Pro335Ala)" "" "0000552476" "00001723" "50" "1078" "0" "1078" "0" "c.1078A>T" "r.(?)" "p.(Asn360Tyr)" "" "0000552477" "00001723" "50" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "" "0000552478" "00001723" "30" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Leu410=)" "" "0000552479" "00001723" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Ser441=)" "" "0000580975" "00001723" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000592154" "00001723" "90" "256" "0" "256" "0" "c.256del" "r.(?)" "p.(Gln86Argfs*106)" "" "0000592155" "00001723" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Gln72*)" "" "0000592156" "00001723" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Glu136*)" "" "0000592157" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000592158" "00001723" "90" "385" "0" "385" "0" "c.385del" "r.(?)" "p.(Glu129Serfs*63)" "" "0000592159" "00001723" "90" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Glu154Argfs*38)" "" "0000592160" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000592161" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000592162" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000592163" "00001723" "90" "517" "0" "517" "0" "c.517G>T" "r.(?)" "p.(Glu173*)" "" "0000592164" "00001723" "90" "543" "0" "543" "0" "c.543G>C" "r.(?)" "p.(Lys181Asn)" "" "0000592165" "00001723" "90" "543" "0" "543" "0" "c.543G>C" "r.(?)" "p.(Lys181Asn)" "" "0000592166" "00001723" "90" "545" "0" "545" "0" "c.545C>A" "r.(?)" "p.(Pro182Gln)" "" "0000592167" "00001723" "70" "553" "0" "553" "0" "c.553A>T" "r.(?)" "p.(Ser185Cys)" "" "0000592168" "00001723" "90" "561" "0" "561" "0" "c.561C>A" "r.(?)" "p.(Asn187Lys)" "" "0000592169" "00001723" "90" "561" "0" "561" "0" "c.561C>A" "r.(?)" "p.(Asn187Lys)" "" "0000592170" "00001723" "90" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189Phe)" "" "0000592171" "00001723" "90" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189Phe)" "" "0000592172" "00001723" "70" "581" "0" "581" "0" "c.581T>G" "r.(?)" "p.(Ile194Ser)" "" "0000592173" "00001723" "70" "592" "0" "594" "0" "c.592_594del" "r.(?)" "p.(Pro198del)" "" "0000592174" "00001723" "90" "611" "0" "618" "0" "c.611_618del" "r.(?)" "p.(Leu204Hisfs*248)" "" "0000592175" "00001723" "90" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Tyr208*)" "" "0000592176" "00001723" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "" "0000592177" "00001723" "90" "732" "0" "741" "0" "c.732_741del" "r.(?)" "p.(His245Thrfs*78)" "" "0000592178" "00001723" "90" "974" "0" "974" "0" "c.974dup" "r.(?)" "p.(Leu325Phefs*130)" "" "0000592179" "00001723" "90" "1082" "0" "1082" "0" "c.1082dup" "r.(?)" "p.(Leu362Profs*93)" "" "0000592180" "00001723" "90" "1141" "0" "1141" "0" "c.1141del" "r.(?)" "p.(Ala381Profs*4)" "" "0000592181" "00001723" "70" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Gly252Asp)" "" "0000592182" "00001723" "90" "921" "0" "921" "0" "c.921C>G" "r.(?)" "p.(Tyr307*)" "" "0000592183" "00001723" "90" "590" "0" "590" "0" "c.590G>T" "r.(?)" "p.(Ser197Ile)" "" "0000614947" "00001723" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73Ter)" "" "0000614948" "00001723" "30" "234" "0" "236" "0" "c.234_236dup" "r.(?)" "p.(Pro80dup)" "" "0000645466" "00001723" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "1" "0000645473" "00001723" "90" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Trp255*)" "" "0000648884" "00001723" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "" "0000648885" "00001723" "70" "755" "0" "755" "0" "c.755G>T" "r.(?)" "p.(Gly252Val)" "" "0000653307" "00001723" "90" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Gln100Serfs*92)" "" "0000657435" "00001723" "50" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Met192Leu)" "" "0000657436" "00001723" "50" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Ser431Asn)" "" "0000659728" "00001723" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Thr432Met)" "" "0000667301" "00001723" "90" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Gly169Alafs*23)" "" "0000667399" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000667516" "00001723" "90" "561" "0" "561" "0" "c.561C>A" "r.(?)" "p.(Asn187Lys)" "" "0000667517" "00001723" "90" "561" "0" "561" "0" "c.561C>G" "r.(?)" "p.(Asn187Lys)" "" "0000667518" "00001723" "90" "1082" "0" "1082" "0" "c.1082dup" "r.(?)" "p.(Leu362Profs*93)" "" "0000693943" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86Profs*35)" "" "0000693944" "00001723" "90" "256" "0" "256" "0" "c.256del" "r.(?)" "p.(Gln86Argfs*106)" "" "0000693945" "00001723" "90" "788" "0" "792" "0" "c.788_792del" "r.(?)" "p.(Asp263Valfs*190)" "" "0000693946" "00001723" "90" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Lys170Glnfs*285)" "" "0000693947" "00001723" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Gln46*)" "" "0000693948" "00001723" "90" "1200" "0" "1200" "0" "c.1200C>A" "r.(?)" "p.(Tyr400*)" "" "0000693949" "00001723" "70" "974" "0" "975" "0" "c.974_975insA" "r.(?)" "p.(Ser326Glufs*129)" "" "0000693950" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86Profs*35)" "" "0000693951" "00001723" "70" "572" "0" "572" "0" "c.572T>G" "r.(?)" "p.(Met191Arg)" "" "0000693952" "00001723" "70" "572" "0" "572" "0" "c.572T>G" "r.(?)" "p.(Met191Arg)" "" "0000693953" "00001723" "70" "572" "0" "572" "0" "c.572T>G" "r.(?)" "p.(Met191Arg)" "" "0000693954" "00001723" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Leu204Phe)" "" "0000693955" "00001723" "90" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Tyr208*)" "" "0000693956" "00001723" "90" "133" "0" "469" "0" "c.133_469delinsACCCACCGCCCC" "r.(?)" "p.(Pro45Thrfs*39)" "" "0000693957" "00001723" "90" "222" "0" "223" "0" "c.222_223dup" "r.(?)" "p.(Pro75Argfs*118)" "" "0000693958" "00001723" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "" "0000693959" "00001723" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Glu144*)" "" "0000693960" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693961" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693962" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693963" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693964" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693965" "00001723" "90" "460" "0" "460" "0" "c.460dup" "r.(?)" "p.(Glu154Glyfs*301)" "" "0000693966" "00001723" "90" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Gly169Alafs*23)" "" "0000693967" "00001723" "90" "515" "0" "577" "0" "c.515_577del" "r.(?)" "p.(Gly172_Met192del)" "" "0000693968" "00001723" "90" "515" "0" "577" "0" "c.515_577del" "r.(?)" "p.(Gly172_Met192del)" "" "0000693969" "00001723" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "0000693970" "00001723" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "" "0000693971" "00001723" "90" "651" "0" "651" "0" "c.651C>G" "r.(?)" "p.(Tyr217*)" "" "0000693972" "00001723" "90" "735" "0" "735" "0" "c.735del" "r.(?)" "p.(Tyr246Thrfs*80)" "" "0000693973" "00001723" "90" "755" "0" "755" "0" "c.755G>T" "r.(?)" "p.(Gly252Val)" "" "0000693974" "00001723" "90" "762" "0" "762" "0" "c.762C>G" "r.(?)" "p.(Tyr254*)" "" "0000693975" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86Profs*35)" "" "0000693976" "00001723" "90" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000693977" "00001723" "90" "263" "0" "278" "0" "c.263_278del" "r.(?)" "p.(Arg88Profs*99)" "" "0000693978" "00001723" "90" "505" "0" "506" "0" "c.505_506delinsT" "r.(?)" "p.(Gly169Serfs*23)" "" "0000693980" "00001723" "90" "755" "0" "755" "0" "c.755G>T" "r.(?)" "p.(Gly252Val)" "" "0000693981" "00001723" "90" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Asn253Asp)" "" "0000698184" "00001723" "90" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Glu136*)" "" "0000724752" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86ProfsTer35)" "" "0000724753" "00001723" "70" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(Tyr208Cys)" "" "0000724754" "00001723" "30" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ala438Val)" "" "0000788905" "00001723" "70" "460" "0" "460" "0" "c.460dupG" "r.(?)" "p.(Glu154GlyfsTer301)" "" "0000806386" "00001723" "30" "384" "0" "384" "0" "c.384C>G" "r.(?)" "p.(Gly128=)" "" "0000806387" "00001723" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Ala447=)" "" "0000823618" "00001723" "70" "479" "0" "488" "0" "c.479_488del" "r.(?)" "p.(Gly160Alafs*29)" "" "0000830404" "00001723" "50" "0" "0" "0" "0" "-" "r.?" "p.?" "" "0000863550" "00001723" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220*)" "" "0000914188" "00001723" "90" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Glu154Argfs*38)" "" "0000914189" "00001723" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Ala290Thr)" "" "0000914190" "00001723" "50" "1064" "0" "1064" "0" "c.1064C>A" "r.(?)" "p.(Ser355Tyr)" "" "0000914191" "00001723" "50" "1082" "0" "1082" "0" "c.1082G>C" "r.(?)" "p.(Gly361Ala)" "" "0000919376" "00001723" "70" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asn187Ser)" "" "0000922692" "00001723" "90" "177" "0" "186" "0" "c.177_186del" "r.(?)" "p.(Pro60ArgfsTer129)" "" "0000930299" "00001723" "70" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Ser393Leu)" "" "0000980868" "00001723" "90" "256" "0" "256" "0" "c.256dup" "r.(?)" "p.(Gln86ProfsTer35)" "" "0000980869" "00001723" "90" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Gly169Alafs*23)" "" "0000984916" "00001723" "70" "1425" "0" "1425" "0" "c.1425C>G" "r.(?)" "p.(Phe475Leu)" "" "0000989922" "00001723" "90" "563" "0" "563" "0" "c.563C>A" "r.(?)" "p.(Ala188Glu)" "1" "0001000955" "00001723" "30" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(His47Gln)" "" "0001000956" "00001723" "30" "213" "0" "213" "0" "c.213G>C" "r.(?)" "p.(Gln71His)" "" "0001000957" "00001723" "30" "228" "0" "236" "0" "c.228_236dup" "r.(?)" "p.(Pro78_Pro80dup)" "" "0001000958" "00001723" "30" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Pro134Arg)" "" "0001000959" "00001723" "90" "460" "0" "460" "0" "c.460G>T" "r.(?)" "p.(Glu154*)" "" "0001000960" "00001723" "50" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Lys156Arg)" "" "0001000961" "00001723" "50" "608" "0" "608" "0" "c.608C>G" "r.(?)" "p.(Thr203Arg)" "" "0001011956" "00001723" "90" "1011" "0" "1015" "0" "c.1011_1015dup" "r.(?)" "p.(Met339ThrfsTer9)" "" "0001048411" "00001723" "70" "644" "0" "644" "0" "c.644T>G" "r.(?)" "p.(Phe215Cys)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 138 "{{screeningid}}" "{{variantid}}" "0000000249" "0000016155" "0000000250" "0000016156" "0000000251" "0000016157" "0000000252" "0000016158" "0000000253" "0000016159" "0000000254" "0000016160" "0000000255" "0000016161" "0000000256" "0000016162" "0000000257" "0000016163" "0000000258" "0000016164" "0000000259" "0000016165" "0000000260" "0000016166" "0000000261" "0000016167" "0000000262" "0000016168" "0000000263" "0000016169" "0000000264" "0000016170" "0000000264" "0000016171" "0000000265" "0000016172" "0000000266" "0000016173" "0000000267" "0000016174" "0000000268" "0000016175" "0000000269" "0000016176" "0000000270" "0000016177" "0000000271" "0000016178" "0000000272" "0000016179" "0000000273" "0000016180" "0000000274" "0000016181" "0000000275" "0000016182" "0000000276" "0000016183" "0000000277" "0000016184" "0000000278" "0000016185" "0000035931" "0000063056" "0000035932" "0000063057" "0000035933" "0000063058" "0000035934" "0000063059" "0000035935" "0000063060" "0000035936" "0000063061" "0000035937" "0000063062" "0000035938" "0000063063" "0000035939" "0000063064" "0000035940" "0000063065" "0000081153" "0000130239" "0000145287" "0000236386" "0000145368" "0000236481" "0000182030" "0000405844" "0000209031" "0000439117" "0000209594" "0000439752" "0000230743" "0000472361" "0000251404" "0000580975" "0000262019" "0000592154" "0000262020" "0000592155" "0000262021" "0000592156" "0000262022" "0000592157" "0000262023" "0000592158" "0000262024" "0000592159" "0000262025" "0000592160" "0000262026" "0000592161" "0000262027" "0000592162" "0000262028" "0000592163" "0000262029" "0000592164" "0000262030" "0000592165" "0000262031" "0000592166" "0000262032" "0000592167" "0000262033" "0000592168" "0000262034" "0000592169" "0000262035" "0000592170" "0000262036" "0000592171" "0000262037" "0000592172" "0000262038" "0000592173" "0000262039" "0000592174" "0000262040" "0000592175" "0000262041" "0000592176" "0000262042" "0000592177" "0000262043" "0000592178" "0000262044" "0000592179" "0000262045" "0000592180" "0000262046" "0000592181" "0000262047" "0000592182" "0000262048" "0000592183" "0000289495" "0000645466" "0000289502" "0000645473" "0000292195" "0000648884" "0000292196" "0000648885" "0000296618" "0000653307" "0000297112" "0000659728" "0000303899" "0000667301" "0000304008" "0000667399" "0000304118" "0000667516" "0000304119" "0000667517" "0000304120" "0000667518" "0000312351" "0000693943" "0000312352" "0000693944" "0000312353" "0000693945" "0000312354" "0000693946" "0000312355" "0000693947" "0000312356" "0000693948" "0000312357" "0000693949" "0000312358" "0000693950" "0000312359" "0000693951" "0000312360" "0000693952" "0000312361" "0000693953" "0000312362" "0000693954" "0000312363" "0000693955" "0000312364" "0000693956" "0000312365" "0000693957" "0000312366" "0000693958" "0000312367" "0000693959" "0000312368" "0000693960" "0000312369" "0000693961" "0000312370" "0000693962" "0000312371" "0000693963" "0000312372" "0000693964" "0000312373" "0000693965" "0000312374" "0000693966" "0000312375" "0000693967" "0000312376" "0000693968" "0000312377" "0000693969" "0000312378" "0000693970" "0000312379" "0000693971" "0000312380" "0000693972" "0000312381" "0000693973" "0000312382" "0000693974" "0000312383" "0000693975" "0000312384" "0000693976" "0000312385" "0000693977" "0000312386" "0000693978" "0000312388" "0000693980" "0000312389" "0000693981" "0000316058" "0000698184" "0000376850" "0000788905" "0000393032" "0000823618" "0000398196" "0000830404" "0000433735" "0000919376" "0000436330" "0000922692" "0000451139" "0000984916" "0000454962" "0000989922" "0000457453" "0001011956" "0000468536" "0001048411"