### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NFIX) # 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}}" "NFIX" "nuclear factor I/X (CCAAT-binding transcription factor)" "19" "p13.3" "unknown" "NG_032925.2" "UD_135331589913" "" "https://www.LOVD.nl/NFIX" "" "1" "7788" "4784" "164005" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NFIX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-11-19 00:00:00" "00006" "2017-02-19 13:39:12" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025274" "NFIX" "transcript variant 2" "001" "NM_002501.2" "" "NP_002492.2" "" "" "" "-68" "5508" "1326" "13106584" "13209610" "00006" "2018-05-17 14:14:20" "" "" "00025837" "NFIX" "transcript variant 4" "000" "NM_001365902.2" "" "NP_001352831.1" "" "" "" "-363" "5647" "1509" "13106289" "13209601" "00006" "2023-06-28 09:23:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00086" "MRSHSS" "Marshall-Smith syndrome (MRSHSS)" "AD" "602535" "" "" "" "00001" "2012-11-19 10:06:06" "00006" "2021-12-10 21:51:32" "00087" "MALNS;SOTOS2" "Malan syndrome (previously SOTOS2)" "AD" "614753" "" "" "" "00001" "2012-11-19 10:06:43" "00006" "2023-06-28 09:24:49" "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" "05245" "SOTOS" "Sotos syndrome (SOTOS)" "" "" "" "neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation" "" "00006" "2017-03-24 10:45:23" "00006" "2017-03-24 12:27:24" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "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 = 4 "{{geneid}}" "{{diseaseid}}" "NFIX" "00086" "NFIX" "00087" "NFIX" "00139" "NFIX" "05245" ## Individuals ## Do not remove or alter this header ## ## Count = 103 "{{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}}" "00016488" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016489" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016490" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016492" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016493" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016494" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016495" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016496" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016497" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016498" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016499" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016500" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "" "" "" "0" "" "" "" "" "00016501" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "M" "no" "" "" "0" "" "" "" "" "00016502" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016503" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016504" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00016505" "" "" "" "1" "" "00700" "{PMID:Schanze 2014:24924640}" "" "F" "no" "" "" "0" "" "" "" "" "00100339" "" "" "" "1" "" "01839" "" "" "F" "no" "United States" "" "0" "" "" "" "" "00164377" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P1" "00164378" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P2" "00164379" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P3" "00164380" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P4" "00164381" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P5" "00164382" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P6" "00164383" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P7" "00164384" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P8" "00164385" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P9" "00164386" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P10" "00164387" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P11" "00164388" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P12" "00164389" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P13" "00164390" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P14" "00164391" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P15" "00164392" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P16" "00164393" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P17" "00164394" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P18" "00164395" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P19" "00164396" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P20" "00164397" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P21" "00164398" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P22" "00164399" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P23" "00164400" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P24" "00164401" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P25" "00164402" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P26" "00164403" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P27" "00164404" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P28" "00164405" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P29" "00164406" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P30" "00164407" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P31" "00164408" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P32" "00164409" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P33" "00164410" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P34" "00164411" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "F" "no" "" "" "0" "" "" "" "P35" "00164412" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P36" "00164413" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P37" "00164414" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P38" "00164415" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P39" "00164416" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P40" "00164417" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P41" "00164418" "" "" "" "1" "" "00700" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "M" "no" "" "" "0" "" "" "" "P42" "00164443" "" "" "" "1" "" "00700" "{PMID:Klaassens 2015:25118028}" "" "F" "" "" "" "0" "" "" "" "25118028-Pat5" "00164444" "" "" "" "1" "" "00700" "{PMID:Klaassens 2015:25118028}" "" "M" "" "" "" "0" "" "" "" "25118028-Pat6" "00164445" "" "" "" "1" "" "00700" "{PMID:Martinez 2015:26200704}" "" "M" "" "" "" "0" "" "" "" "26200704-Pat4" "00164446" "" "" "" "1" "" "00700" "{PMID:Martinez 2015:26200704}" "" "F" "" "" "" "0" "" "" "" "26200704-Pat5" "00164447" "" "" "" "1" "" "00700" "{PMID:Yoneda 2012:22301465}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00164448" "" "" "" "1" "" "00700" "{PMID:Yoneda 2012:22301465}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00164449" "" "" "" "1" "" "00700" "{PMID:Priolo 2012:22982744}" "" "F" "" "" "" "0" "" "" "" "22982744-Pat1" "00164450" "" "" "" "1" "" "00700" "{PMID:Gurrieri 2015:26193383}" "" "F" "" "" "" "0" "" "" "" "261933830-Pat1" "00164451" "" "" "" "1" "" "00700" "{PMID:Gurrieri 2015:26193383}" "" "F" "" "" "" "0" "" "" "" "261933830-Pat2" "00164452" "" "" "" "1" "" "00700" "{PMID:Gurrieri 2015:26193383}" "" "M" "" "" "" "0" "" "" "" "261933830-Pat3" "00164453" "" "" "" "1" "" "00700" "{PMID:Oshima 2017:28584646}" "" "M" "" "" "" "0" "" "" "" "28584646-Pat1" "00164454" "" "" "" "1" "" "00700" "{PMID:Jezela-Stanek 2016:26927468}" "" "F" "" "" "" "0" "" "" "" "26927468-AB" "00164455" "" "" "" "1" "" "00700" "{PMID:Malan 2010:20673863}" "" "F" "" "" "" "0" "" "" "" "20673863-PatC" "00164456" "" "" "" "1" "" "00700" "{PMID:Lu 2017:29142766}" "" "" "" "" "" "0" "" "" "" "29142766-Pat" "00183657" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat02" "00269895" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00289297" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00292044" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292045" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306239" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00314894" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio78" "00331526" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "11DG2179" "00331527" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "12DG1080" "00361637" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1080" "00402809" "" "" "" "1" "" "04221" "{PMID:Reyna-Fabian 2024:38909058}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Mexico" "" "0" "" "none" "" "Pat2" "00403870" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF056" "00435261" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "261600" "00440405" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3647.1" "00448198" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat26" "00450251" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0101" "00450252" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0110" "00450253" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0226" "00450254" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0874" "00450255" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1671" "00450256" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0043" "00450257" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0058" "00450258" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0303" "00450259" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0706" "00450260" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1423" "00450261" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1651" "00450262" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1978" "00450263" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1979" "00450299" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1458" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 103 "{{individualid}}" "{{diseaseid}}" "00016488" "00086" "00016489" "00086" "00016490" "00086" "00016492" "00086" "00016493" "00086" "00016494" "00086" "00016495" "00086" "00016496" "00086" "00016497" "00086" "00016498" "00086" "00016499" "00086" "00016500" "00086" "00016501" "00086" "00016502" "00086" "00016503" "00086" "00016504" "00086" "00016505" "00086" "00100339" "00086" "00164377" "00087" "00164378" "00087" "00164379" "00087" "00164380" "00087" "00164381" "00087" "00164382" "00087" "00164383" "00087" "00164384" "00087" "00164385" "00087" "00164386" "00087" "00164387" "00087" "00164388" "00087" "00164389" "00087" "00164390" "00087" "00164391" "00087" "00164392" "00087" "00164393" "00087" "00164394" "00087" "00164395" "00087" "00164396" "00087" "00164397" "00087" "00164398" "00087" "00164399" "00087" "00164400" "00087" "00164401" "00087" "00164402" "00087" "00164403" "00087" "00164404" "00087" "00164405" "00087" "00164406" "00087" "00164407" "00087" "00164408" "00087" "00164409" "00087" "00164410" "00087" "00164411" "00087" "00164412" "00087" "00164413" "00087" "00164414" "00087" "00164415" "00087" "00164416" "00087" "00164417" "00087" "00164418" "00087" "00164443" "00087" "00164444" "00087" "00164445" "00087" "00164446" "00087" "00164447" "00087" "00164448" "00087" "00164449" "00087" "00164450" "00087" "00164451" "00087" "00164452" "00087" "00164453" "00087" "00164454" "00087" "00164455" "00087" "00164456" "00087" "00183657" "00139" "00269895" "00198" "00289297" "00198" "00292044" "00198" "00292045" "00198" "00306239" "00198" "00314894" "00198" "00331526" "05517" "00331527" "05517" "00361637" "00139" "00402809" "00087" "00403870" "05611" "00435261" "00087" "00440405" "00198" "00448198" "00198" "00450251" "00198" "00450252" "00198" "00450253" "00198" "00450254" "00198" "00450255" "00198" "00450256" "00198" "00450257" "00198" "00450258" "00198" "00450259" "00198" "00450260" "00198" "00450261" "00198" "00450262" "00198" "00450263" "00198" "00450299" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00086, 00087, 00139, 00198, 05245, 05517, 05611 ## Count = 45 "{{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}}" "0000015121" "00086" "00016488" "00700" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015404" "00086" "00016489" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015405" "00086" "00016490" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015406" "00086" "00016495" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015407" "00086" "00016494" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015408" "00086" "00016500" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015409" "00086" "00016501" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015410" "00086" "00016492" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015411" "00086" "00016493" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015412" "00086" "00016496" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015413" "00086" "00016497" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015414" "00086" "00016498" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015415" "00086" "00016499" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015416" "00086" "00016502" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015417" "00086" "00016503" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015418" "00086" "00016504" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015419" "00086" "00016505" "00700" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078600" "00086" "00100339" "01839" "Isolated (sporadic)" "04y" "" "" "06y" "" "" "" "" "" "" "" "" "" "0000144343" "00139" "00183657" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MRSHSS" "intellectual disability" "" "0000207691" "00198" "00269895" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Visual impairment (HP:0000505); Abnormal delivery (HP:0001787)" "" "" "" "" "" "" "" "" "" "" "" "0000222928" "00198" "00289297" "01164" "Unknown" "" "Abnormality of globe location (HP:0100886); Arachnodactyly (HP:0001166); Abnormality of finger (HP:0001167); Defect in the atrial septum (HP:0001631); Dysphagia (HP:0002015); Abnormality of the esophagus (HP:0002031); Abnormality of the mandible (HP:0000277); Microretrognathia (HP:0000308); Abnormality of the nose (HP:0000366); Choanal stenosis (HP:0000452); Abnormality of the eye (HP:0000478); Abnormality of cardiac atrium (HP:0005120); Proptosis (HP:0000520); Abnormality of the clitoris (HP:0000056); Clitoral hypertrophy (HP:0008665); Abnormality of the skin (HP:0000951)" "" "" "" "" "" "" "" "" "" "" "" "0000232085" "00198" "00306239" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000238652" "00198" "00314894" "00006" "Isolated (sporadic)" "5y" "Macrocephaly, advanced bone age, Gibbus deformity, clinical diagnosis of Sotos syndrome, speech delay, developmental delay." "1d" "" "" "" "" "" "" "" "" "" "" "0000249718" "05517" "00331526" "00000" "Familial, autosomal dominant" "" "Tall stature, Intellectual disability, Seizures, Vomiting, Strabismus" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000249719" "05517" "00331527" "00000" "Familial, autosomal dominant" "" "Relative macrocephaly, Intellectual disability, Abnormal facia shape, Prominent forehead, Yes" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000257042" "00139" "00361637" "00006" "Isolated (sporadic)" "9y" "syndromic; intellectual disability, dysmorphism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000295571" "00087" "00402809" "04221" "Familial, autosomal dominant" "13y" "Exotropia, severe intellectual disability, tall stature, pectus excavatum, arachnodactyly, dolichostenomelia, dolichocephaly, deeply set eye, tooth malposition." "" "" "Exotropia (HP:0000577)" "" "" "" "" "" "SOTOS2" "collagenopathy" "" "0000296550" "05611" "00403870" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325458" "00087" "00435261" "01164" "Isolated (sporadic)" "02y" "Macrocephaly, Global developmental delay, Short stature, Neurodevelopmental delay, Hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000330315" "00198" "00440405" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome-2 (MIM #614753)" "" "" "0000337408" "00198" "00448198" "00006" "Isolated (sporadic)" "13y" "developmental delay; tall stature; abnormal aggressive, impulsive or violent behavior; strabismus; skeletal anomalies; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000339311" "00198" "00450251" "00006" "Isolated (sporadic)" "23y" "overgrowth; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339312" "00198" "00450252" "00006" "Isolated (sporadic)" "15y" "overgrowth; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339313" "00198" "00450253" "00006" "Isolated (sporadic)" "19y" "overgrowth; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339314" "00198" "00450254" "00006" "Isolated (sporadic)" "0y8m" "overgrowth height; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339315" "00198" "00450255" "00006" "Isolated (sporadic)" "9y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339316" "00198" "00450256" "00006" "Unknown" "14y5m" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339317" "00198" "00450257" "00006" "Unknown" "" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339318" "00198" "00450258" "00006" "Unknown" "12y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339319" "00198" "00450259" "00006" "Unknown" "42y" "overgrowth head, overgrowth height; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339320" "00198" "00450260" "00006" "Unknown" "13y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339321" "00198" "00450261" "00006" "Unknown" "3y" "overgrowth head; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339322" "00198" "00450262" "00006" "Unknown" "14y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339323" "00198" "00450263" "00006" "Unknown" "18y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339359" "00198" "00450299" "00006" "Unknown" "1y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" ## Screenings ## Do not remove or alter this header ## ## Count = 103 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016431" "00016488" "1" "00700" "00700" "2014-04-28 09:25:59" "" "" "PCR;SEQ" "DNA;RNA" "blood" "" "0000016432" "00016489" "1" "00700" "00700" "2014-04-28 09:56:25" "" "" "PCR;SEQ" "DNA;RNA" "blood" "" "0000016433" "00016490" "1" "00700" "00700" "2014-04-28 10:08:18" "" "" "PCR;SEQ" "DNA;RNA" "blood" "" "0000016434" "00016492" "1" "00700" "00700" "2014-04-28 10:16:11" "00700" "2014-04-28 10:27:26" "MLPA;PCR;PCRlr;SEQ" "DNA;RNA" "blood" "" "0000016435" "00016493" "1" "00700" "00700" "2014-04-28 10:24:23" "" "" "MLPA;PCR;PCRlr;SEQ" "DNA;RNA" "blood" "" "0000016436" "00016494" "1" "00700" "00700" "2014-04-28 10:33:08" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016437" "00016495" "1" "00700" "00700" "2014-04-28 10:38:29" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016438" "00016496" "1" "00700" "00700" "2014-04-28 10:41:51" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016439" "00016497" "1" "00700" "00700" "2014-04-28 10:46:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016440" "00016498" "1" "00700" "00700" "2014-04-28 10:49:05" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016441" "00016499" "1" "00700" "00700" "2014-04-28 10:52:30" "00700" "2014-04-28 10:56:26" "MLPA;PCR;PCRlr;SEQ" "DNA" "blood" "" "0000016442" "00016500" "1" "00700" "00700" "2014-04-28 10:57:49" "" "" "PCR;SEQ" "DNA" "blood" "" "0000016443" "00016501" "1" "00700" "00700" "2014-04-28 11:05:36" "" "" "MLPA;PCR;PCRlr;SEQ" "DNA" "blood" "" "0000016444" "00016502" "1" "00700" "00700" "2014-04-28 11:09:10" "" "" "MLPA;PCR;PCRlr;SEQ" "DNA" "blood" "" "0000016445" "00016503" "1" "00700" "00700" "2014-04-28 11:12:29" "" "" "MLPA;PCR;PCRlr;SEQ" "DNA" "blood" "" "0000016446" "00016504" "1" "00700" "00700" "2014-04-28 11:17:52" "" "" "MLPA;PCR;PCRlr;SEQ" "DNA" "blood" "" "0000016447" "00016505" "1" "00700" "00700" "2014-04-28 11:21:04" "" "" "PCR;SEQ" "DNA" "blood" "" "0000100743" "00100339" "1" "01839" "01839" "2017-02-13 03:21:05" "01839" "2017-02-17 21:16:07" "SEQ-NG-I" "DNA" "blood" "" "0000165244" "00164377" "1" "00700" "00700" "2018-05-17 10:45:05" "00700" "2018-05-17 13:33:02" "PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000165245" "00164378" "1" "00700" "00700" "2018-05-17 12:31:39" "00700" "2018-05-17 13:33:44" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165246" "00164379" "1" "00700" "00700" "2018-05-17 13:32:01" "" "" "SEQ-NG" "DNA" "blood" "" "0000165247" "00164380" "1" "00700" "00700" "2018-05-17 13:39:19" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165248" "00164381" "1" "00700" "00700" "2018-05-17 13:42:21" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165249" "00164382" "1" "00700" "00700" "2018-05-17 14:09:16" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165250" "00164383" "1" "00700" "00700" "2018-05-17 14:22:50" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165251" "00164384" "1" "00700" "00700" "2018-05-17 14:45:29" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165252" "00164385" "1" "00700" "00700" "2018-05-17 14:47:19" "" "" "PCR" "DNA" "blood" "" "0000165253" "00164386" "1" "00700" "00700" "2018-05-17 15:04:10" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165254" "00164387" "1" "00700" "00700" "2018-05-17 15:05:40" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165255" "00164388" "1" "00700" "00700" "2018-05-17 15:07:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000165256" "00164389" "1" "00700" "00700" "2018-05-17 15:08:38" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165257" "00164390" "1" "00700" "00700" "2018-05-17 15:10:05" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165258" "00164391" "1" "00700" "00700" "2018-05-17 15:11:42" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165259" "00164392" "1" "00700" "00700" "2018-05-17 15:13:01" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165260" "00164393" "1" "00700" "00700" "2018-05-17 15:14:24" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165261" "00164394" "1" "00700" "00700" "2018-05-17 15:16:05" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165262" "00164395" "1" "00700" "00700" "2018-05-17 15:17:42" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165263" "00164396" "1" "00700" "00700" "2018-05-17 15:18:57" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165264" "00164397" "1" "00700" "00700" "2018-05-17 15:20:05" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165265" "00164398" "1" "00700" "00700" "2018-05-17 15:21:14" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165266" "00164399" "1" "00700" "00700" "2018-05-17 15:22:29" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165267" "00164400" "1" "00700" "00700" "2018-05-17 15:23:39" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165268" "00164401" "1" "00700" "00700" "2018-05-17 15:24:51" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165269" "00164402" "1" "00700" "00700" "2018-05-17 15:26:24" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165270" "00164403" "1" "00700" "00700" "2018-05-17 15:27:41" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165271" "00164404" "1" "00700" "00700" "2018-05-17 15:28:52" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165272" "00164405" "1" "00700" "00700" "2018-05-17 15:30:01" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165273" "00164406" "1" "00700" "00700" "2018-05-17 15:31:12" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165274" "00164407" "1" "00700" "00700" "2018-05-17 15:32:20" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165275" "00164408" "1" "00700" "00700" "2018-05-17 15:33:54" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165276" "00164409" "1" "00700" "00700" "2018-05-17 15:36:47" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165277" "00164410" "1" "00700" "00700" "2018-05-17 15:37:49" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165278" "00164411" "1" "00700" "00700" "2018-05-17 15:40:08" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165279" "00164412" "1" "00700" "00700" "2018-05-17 15:43:01" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165280" "00164413" "1" "00700" "00700" "2018-05-17 15:44:36" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165281" "00164414" "1" "00700" "00700" "2018-05-17 15:46:16" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165282" "00164415" "1" "00700" "00700" "2018-05-17 15:47:29" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165283" "00164416" "1" "00700" "00700" "2018-05-17 15:48:37" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165284" "00164417" "1" "00700" "00700" "2018-05-17 15:49:41" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165285" "00164418" "1" "00700" "00700" "2018-05-17 15:50:42" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000165309" "00164443" "1" "00700" "00700" "2018-05-18 12:22:54" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165310" "00164444" "1" "00700" "00700" "2018-05-18 12:26:47" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165311" "00164445" "1" "00700" "00700" "2018-05-18 12:31:10" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165312" "00164446" "1" "00700" "00700" "2018-05-18 12:37:21" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165313" "00164447" "1" "00700" "00700" "2018-05-18 12:42:30" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165314" "00164448" "1" "00700" "00700" "2018-05-18 12:45:11" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165315" "00164449" "1" "00700" "00700" "2018-05-18 12:50:21" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165316" "00164450" "1" "00700" "00700" "2018-05-18 12:54:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165317" "00164451" "1" "00700" "00700" "2018-05-18 12:56:54" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165318" "00164452" "1" "00700" "00700" "2018-05-18 12:59:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165319" "00164453" "1" "00700" "00700" "2018-05-18 13:02:26" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165320" "00164454" "1" "00700" "00700" "2018-05-18 13:07:11" "" "" "SEQ-NG" "DNA" "blood" "" "0000165321" "00164455" "1" "00700" "00700" "2018-05-18 13:13:03" "" "" "PCR;SEQ" "DNA" "blood" "" "0000165322" "00164456" "1" "00700" "00700" "2018-05-18 13:49:22" "" "" "SEQ-ON" "DNA" "blood" "" "0000184625" "00183657" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000271048" "00269895" "1" "01807" "01807" "2019-12-10 12:32:00" "" "" "SEQ" "DNA" "" "" "0000290467" "00289297" "1" "01164" "01164" "2020-03-02 12:27:04" "" "" "SEQ-NG-S" "DNA" "" "" "0000293212" "00292044" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293213" "00292045" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307374" "00306239" "1" "01164" "01164" "2020-07-13 13:09:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000316068" "00314894" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000332745" "00331526" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332746" "00331527" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362865" "00361637" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000404050" "00402809" "1" "04221" "04221" "2022-02-10 20:15:39" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000405108" "00403870" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436741" "00435261" "1" "01164" "01164" "2023-06-27 11:49:22" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000441890" "00440405" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449773" "00448198" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451847" "00450251" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451848" "00450252" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451849" "00450253" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451850" "00450254" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451851" "00450255" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451852" "00450256" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451853" "00450257" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451854" "00450258" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451855" "00450259" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451856" "00450260" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451857" "00450261" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451858" "00450262" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451859" "00450263" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451895" "00450299" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 80 "{{screeningid}}" "{{geneid}}" "0000016431" "NFIX" "0000016432" "NFIX" "0000016433" "NFIX" "0000016434" "NFIX" "0000016435" "NFIX" "0000016436" "NFIX" "0000016437" "NFIX" "0000016438" "NFIX" "0000016439" "NFIX" "0000016440" "NFIX" "0000016441" "NFIX" "0000016442" "NFIX" "0000016443" "NFIX" "0000016444" "NFIX" "0000016445" "NFIX" "0000016446" "NFIX" "0000016447" "NFIX" "0000100743" "NFIX" "0000165244" "NFIX" "0000165245" "NFIX" "0000165246" "NFIX" "0000165247" "NFIX" "0000165248" "NFIX" "0000165249" "NFIX" "0000165250" "NFIX" "0000165251" "NFIX" "0000165252" "NFIX" "0000165253" "NFIX" "0000165254" "NFIX" "0000165255" "NFIX" "0000165256" "NFIX" "0000165257" "NFIX" "0000165258" "NFIX" "0000165259" "NFIX" "0000165260" "NFIX" "0000165261" "NFIX" "0000165262" "NFIX" "0000165263" "NFIX" "0000165264" "NFIX" "0000165265" "NFIX" "0000165266" "NFIX" "0000165267" "NFIX" "0000165268" "NFIX" "0000165269" "NFIX" "0000165270" "NFIX" "0000165271" "NFIX" "0000165272" "NFIX" "0000165273" "NFIX" "0000165274" "NFIX" "0000165275" "NFIX" "0000165276" "NFIX" "0000165277" "NFIX" "0000165278" "NFIX" "0000165279" "NFIX" "0000165280" "NFIX" "0000165281" "NFIX" "0000165282" "NFIX" "0000165283" "NFIX" "0000165284" "NFIX" "0000165285" "NFIX" "0000165309" "NFIX" "0000165310" "NFIX" "0000165311" "NFIX" "0000165312" "NFIX" "0000165313" "NFIX" "0000165314" "NFIX" "0000165315" "NFIX" "0000165316" "NFIX" "0000165317" "NFIX" "0000165318" "NFIX" "0000165319" "NFIX" "0000165320" "NFIX" "0000165321" "NFIX" "0000165322" "NFIX" "0000184625" "NFIX" "0000316068" "NFIX" "0000332745" "NFIX" "0000332746" "NFIX" "0000362865" "NFIX" "0000436741" "NFIX" ## 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 = 147 "{{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}}" "0000036246" "0" "90" "19" "13192561" "13192574" "del" "0" "00700" "NFIX_000001" "g.13192561_13192574del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1146_1159del" "" "Unknown" "" "" "0" "" "" "g.13081747_13081760del" "" "pathogenic (dominant)" "" "0000036247" "0" "90" "19" "13198940" "13198980" "dup" "0" "00700" "NFIX_000002" "g.13198940_13198980dup" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1392_1402+32dup" "" "De novo" "" "" "0" "" "" "g.13088126_13088166dup" "" "pathogenic (dominant)" "" "0000036248" "0" "90" "19" "13192505" "13192505" "dup" "0" "00700" "NFIX_000003" "g.13192505dup" "2/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1090dup" "" "De novo" "" "" "0" "" "" "g.13081691dup" "" "pathogenic (dominant)" "" "0000036249" "11" "90" "19" "13185757" "13191686" "del" "0" "00700" "NFIX_000006" "g.13185757_13191686del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.819-592_1079-808del" "5.9 kb deletion; RNA analysis shows normal and exon 7 skipped product of normal allele" "De novo" "" "" "0" "" "" "g.13074943_13080872del" "" "pathogenic (dominant)" "" "0000036250" "11" "90" "19" "13185649" "13191579" "del" "0" "00700" "NFIX_000007" "g.13185649_13191579del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.819-700_1079-915del" "5.9 kb deletion; RNA analysis shows normal and exon 7 skipped product of normal allele" "De novo" "" "" "0" "" "" "g.13074835_13080765del" "" "pathogenic (dominant)" "" "0000036251" "0" "90" "19" "13201166" "13201166" "del" "0" "00700" "NFIX_000004" "g.13201166del" "2/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1456delC" "" "De novo" "" "" "0" "" "" "g.13090352del" "" "pathogenic (dominant)" "" "0000036252" "0" "90" "19" "13192505" "13192505" "dup" "0" "00700" "NFIX_000003" "g.13192505dup" "2/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1090dup" "" "De novo" "" "" "0" "" "" "g.13081691dup" "" "pathogenic (dominant)" "" "0000036253" "0" "90" "19" "13189519" "13189520" "ins" "0" "00700" "NFIX_000008" "g.13189519_13189520insAGCG" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1048_1049insAGCG" "" "De novo" "" "" "0" "" "" "g.13078705_13078706insAGCG" "" "pathogenic (dominant)" "" "0000036254" "0" "90" "19" "13186486" "13186486" "subst" "0" "00700" "NFIX_000009" "g.13186486G>A" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.955+1G>A" "" "De novo" "" "" "0" "" "" "g.13075672G>A" "" "pathogenic (dominant)" "" "0000036255" "0" "90" "19" "13192562" "13192562" "dup" "0" "00700" "NFIX_000010" "g.13192562dup" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1147dupT" "" "Unknown" "" "" "0" "" "" "g.13081748dup" "" "pathogenic (dominant)" "" "0000036256" "0" "90" "19" "13186394" "13187806" "del" "0" "00700" "NFIX_000011" "g.13186394_13187806del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.863_955+1320del" "" "De novo" "" "" "0" "" "" "g.13075580_13076992del" "" "pathogenic (dominant)" "" "0000036257" "0" "90" "19" "13201166" "13201166" "del" "0" "00700" "NFIX_000004" "g.13201166del" "2/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1456delC" "" "De novo" "" "" "0" "" "" "g.13090352del" "" "pathogenic (dominant)" "" "0000036258" "0" "90" "19" "13185401" "13188623" "del" "0" "00700" "NFIX_000005" "g.13185401_13188623del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.818+561_956-804del" "" "Unknown" "" "" "0" "" "" "g.13074587_13077809del" "" "pathogenic (dominant)" "" "0000036259" "11" "90" "19" "13185865" "13191794" "del" "0" "00700" "NFIX_000012" "g.13185865_13191794del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.819-484_1079-700del" "5.9 kb deletion" "De novo" "" "" "0" "" "" "g.13075051_13080980del" "" "pathogenic (dominant)" "" "0000036260" "0" "90" "19" "13185878" "13191807" "del" "0" "00700" "NFIX_000013" "g.13185878_13191807del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.819-471_1079-687del" "5.9 kb deletion" "De novo" "" "" "0" "" "" "g.13075064_13080993del" "" "pathogenic (dominant)" "" "0000036261" "0" "90" "19" "13185616" "13191546" "del" "0" "00700" "NFIX_000014" "g.13185616_13191546del" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.819-732_1079-948del" "5.9 kb deletion" "Unknown" "" "" "0" "" "" "g.13074802_13080732del" "" "pathogenic (dominant)" "" "0000036262" "0" "90" "19" "13192657" "13192659" "delins" "0" "00700" "NFIX_000015" "g.13192657_13192659delinsT" "1/17 patients" "{PMID:Schanze 2014:24924640}" "" "ENST00000397661:c.1242_1264delinsT" "" "De novo" "" "" "0" "" "" "g.13081843_13081845delinsT" "" "pathogenic (dominant)" "" "0000163193" "0" "90" "19" "13189461" "13189468" "del" "0" "01839" "NFIX_000016" "g.13189461_13189468del" "" "" "" "NM_002501.3:c.990_997del" "" "De novo" "" "" "0" "aaggarwal" "" "g.13078647_13078654del" "" "pathogenic" "" "0000298574" "0" "70" "19" "13135899" "13135899" "subst" "0" "02329" "NFIX_000017" "g.13135899T>C" "" "" "" "NFIX(NM_001271043.2):c.116T>C (p.F39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13025085T>C" "" "likely pathogenic" "" "0000298575" "0" "90" "19" "13136077" "13136077" "del" "0" "02329" "NFIX_000018" "g.13136077del" "" "" "" "NFIX(NM_001271043.2):c.294delC (p.F99Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13025263del" "" "pathogenic" "" "0000326229" "0" "50" "19" "13136150" "13136150" "subst" "0" "01804" "NFIX_000021" "g.13136150C>T" "" "" "" "NFIX(NM_001271043.1):c.367C>T (p.(Arg123Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13025336C>T" "" "VUS" "" "0000326230" "0" "50" "19" "13184313" "13184316" "del" "0" "01804" "NFIX_000022" "g.13184313_13184316del" "" "" "" "NFIX(NM_001271043.1):c.721_721+3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13073499_13073502del" "" "VUS" "" "0000341765" "0" "70" "19" "13136153" "13136153" "subst" "0" "02327" "NFIX_000024" "g.13136153C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13025339C>G" "" "likely pathogenic" "" "0000343879" "0" "90" "19" "13136366" "13136366" "subst" "0" "02327" "NFIX_000025" "g.13136366G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13025552G>T" "" "pathogenic" "" "0000368902" "0" "90" "19" "13135822" "13135834" "delins" "0" "00700" "NFIX_000066" "NC_000019.9:g.13135822_13135834delinsAAGCCGCCTGCAA" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.[28-1G>A;28-12T>A;28-13T>A]" "" "De novo" "" "" "0" "" "" "g.13025008_13025020delinsAAGCCGCCTGCAA" "" "pathogenic (dominant)" "" "0000368903" "0" "90" "19" "13135850" "13135856" "dup" "0" "00700" "NFIX_000027" "g.13135850_13135856dup" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.43_49dup" "" "De novo" "" "" "0" "" "" "g.13025036_13025042dup" "" "pathogenic (dominant)" "" "0000368904" "0" "90" "19" "13135866" "13135866" "subst" "0" "00700" "NFIX_000028" "g.13135866T>C" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.59T>C" "" "Unknown" "" "" "0" "" "" "g.13025052T>C" "" "pathogenic (dominant)" "" "0000368905" "0" "90" "19" "13135899" "13135899" "subst" "0" "00700" "NFIX_000017" "g.13135899T>C" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.92T>C" "" "De novo" "" "" "0" "" "" "g.13025085T>C" "" "pathogenic (dominant)" "" "0000368906" "0" "90" "19" "13135919" "13135919" "subst" "0" "00700" "NFIX_000031" "g.13135919C>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.112C>T" "" "De novo" "" "" "0" "" "" "g.13025105C>T" "" "pathogenic (dominant)" "" "0000368907" "0" "90" "19" "13135920" "13135920" "subst" "0" "00700" "NFIX_000032" "g.13135920G>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.113G>T" "" "Unknown" "" "" "0" "" "" "g.13025106G>T" "" "pathogenic (dominant)" "" "0000368908" "0" "90" "19" "13135949" "13135949" "del" "0" "00700" "NFIX_000033" "g.13135949del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.142del" "" "De novo" "" "" "0" "" "" "g.13025135del" "" "pathogenic (dominant)" "" "0000368909" "0" "90" "19" "13135961" "13135962" "ins" "0" "00700" "NFIX_000034" "g.13135961_13135962insT" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.154_155insT" "" "De novo" "" "" "0" "" "" "g.13025147_13025148insT" "" "pathogenic (dominant)" "" "0000368910" "0" "90" "19" "13135964" "13135984" "del" "0" "00700" "NFIX_000035" "g.13135964_13135984del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.157_177del" "" "De novo" "" "" "0" "" "" "g.13025150_13025170del" "" "pathogenic (dominant)" "" "0000368911" "0" "90" "19" "13135989" "13135989" "subst" "0" "00700" "NFIX_000038" "g.13135989T>C" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.182T>C" "" "De novo" "" "" "0" "" "" "g.13025175T>C" "" "pathogenic (dominant)" "" "0000368912" "0" "90" "19" "13135994" "13135994" "subst" "0" "00700" "NFIX_000039" "g.13135994G>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.187G>T" "" "De novo" "" "" "0" "" "" "g.13025180G>T" "" "pathogenic (dominant)" "" "0000368913" "0" "90" "19" "13136007" "13136008" "dup" "0" "00700" "NFIX_000041" "g.13136007_13136008dup" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.200_201dup" "" "De novo" "" "" "0" "" "" "g.13025193_13025194dup" "" "pathogenic (dominant)" "" "0000368914" "0" "90" "19" "13136055" "13136055" "subst" "0" "00700" "NFIX_000042" "g.13136055T>G" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.248T>G" "" "De novo" "" "" "0" "" "" "g.13025241T>G" "" "pathogenic (dominant)" "" "0000368915" "0" "90" "19" "13136087" "13136087" "subst" "0" "00700" "NFIX_000044" "g.13136087A>C" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.280A>C" "" "Unknown" "" "" "0" "" "" "g.13025273A>C" "" "pathogenic (dominant)" "" "0000368916" "0" "90" "19" "13136101" "13136101" "del" "0" "00700" "NFIX_000045" "g.13136101del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.294del" "" "De novo" "" "" "0" "" "" "g.13025287del" "" "pathogenic (dominant)" "" "0000368917" "0" "90" "19" "13136122" "13136123" "ins" "0" "00700" "NFIX_000046" "g.13136122_13136123insGGT" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.315_316insGGT" "" "De novo" "" "" "0" "" "" "g.13025308_13025309insGGT" "" "pathogenic (dominant)" "" "0000368918" "0" "90" "19" "13136124" "13136124" "subst" "0" "00700" "NFIX_000047" "g.13136124C>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.317C>T" "" "Unknown" "" "" "0" "" "" "g.13025310C>T" "" "pathogenic (dominant)" "" "0000368919" "0" "90" "19" "13136129" "13136130" "del" "0" "00700" "NFIX_000048" "g.13136129_13136130delinsA" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.322_323delinsA" "" "De novo" "" "" "0" "" "" "g.13025315_13025316delinsA" "" "pathogenic (dominant)" "" "0000368920" "0" "90" "19" "13136132" "13136132" "subst" "0" "00700" "NFIX_000049" "g.13136132G>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.325G>T" "" "De novo" "" "" "0" "" "" "g.13025318G>T" "" "pathogenic (dominant)" "" "0000368921" "0" "90" "19" "13136135" "13136135" "subst" "0" "00700" "NFIX_000050" "g.13136135C>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.328C>T" "" "De novo" "" "" "0" "" "" "g.13025321C>T" "" "pathogenic (dominant)" "" "0000368922" "0" "90" "19" "13136144" "13136144" "subst" "0" "00700" "NFIX_000051" "g.13136144A>G" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.337A>G" "" "De novo" "" "" "0" "" "" "g.13025330A>G" "" "pathogenic (dominant)" "" "0000368923" "0" "90" "19" "13136150" "13136150" "subst" "0" "00700" "NFIX_000021" "g.13136150C>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.343C>T" "" "De novo" "" "" "0" "" "" "g.13025336C>T" "" "pathogenic (dominant)" "" "0000368924" "0" "90" "19" "13136153" "13136153" "subst" "0" "00700" "NFIX_000024" "g.13136153C>G" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.346C>G" "" "De novo" "" "" "0" "" "" "g.13025339C>G" "" "pathogenic (dominant)" "" "0000368925" "0" "90" "19" "13136154" "13136154" "subst" "0" "00700" "NFIX_000054" "g.13136154G>A" "2/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.347G>A" "" "Unknown" "" "" "0" "" "" "g.13025340G>A" "" "pathogenic (dominant)" "" "0000368926" "0" "90" "19" "13136154" "13136154" "subst" "0" "00700" "NFIX_000054" "g.13136154G>A" "2/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.347G>A" "" "De novo" "" "" "0" "" "" "g.13025340G>A" "" "pathogenic (dominant)" "" "0000368927" "0" "90" "19" "13136165" "13136165" "del" "0" "00700" "NFIX_000055" "g.13136165del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.358delC" "" "De novo" "" "" "0" "" "" "g.13025351del" "" "pathogenic (dominant)" "" "0000368928" "0" "90" "19" "13136190" "13136190" "subst" "0" "00700" "NFIX_000056" "g.13136190G>A" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.383G>A" "" "Unknown" "" "" "0" "" "" "g.13025376G>A" "" "pathogenic (dominant)" "" "0000368929" "0" "90" "19" "13136215" "13136215" "del" "0" "00700" "NFIX_000056" "g.13136215delinsTT" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.408delinsTT" "" "Unknown" "" "" "0" "" "" "g.13025401delinsTT" "" "pathogenic (dominant)" "" "0000368930" "0" "90" "19" "13136219" "13136220" "del" "0" "00700" "NFIX_000057" "g.13136219_13136220delinsG" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.412_413delinsG" "" "De novo" "" "" "0" "" "" "g.13025405_13025406delinsG" "" "pathogenic (dominant)" "" "0000368931" "0" "90" "19" "13136251" "13136251" "subst" "0" "00700" "NFIX_000056" "g.13136251G>C" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.444G>C" "" "De novo" "" "" "0" "" "" "g.13025437G>C" "" "pathogenic (dominant)" "" "0000368932" "0" "90" "19" "13136270" "13136270" "subst" "0" "00700" "NFIX_000056" "g.13136270C>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.463C>T" "" "De novo" "" "" "0" "" "" "g.13025456C>T" "" "pathogenic (dominant)" "" "0000368933" "0" "90" "19" "13136306" "13136306" "subst" "0" "00700" "NFIX_000057" "g.13136306C>A" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.499C>A" "" "De novo" "" "" "0" "" "" "g.13025492C>A" "" "pathogenic (dominant)" "" "0000368934" "0" "90" "19" "13136327" "13136327" "subst" "0" "00700" "NFIX_000057" "g.13136327G>T" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.520G>T" "" "De novo" "" "" "0" "" "" "g.13025513G>T" "" "pathogenic (dominant)" "" "0000368935" "0" "90" "19" "13136349" "13136349" "dup" "0" "00700" "NFIX_000058" "g.13136349dup" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.542dup" "" "De novo" "" "" "0" "" "" "g.13025535dup" "" "pathogenic (dominant)" "" "0000368936" "0" "90" "19" "13184307" "13184307" "subst" "0" "00700" "NFIX_000058" "g.13184307C>T" "2/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.694C>T" "maternal mosaic" "Germline" "" "" "0" "" "" "g.13073493C>T" "" "pathogenic (dominant)" "" "0000368937" "0" "90" "19" "13184307" "13184307" "subst" "0" "00700" "NFIX_000058" "g.13184307C>T" "2/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.694C>T" "" "De novo" "" "" "0" "" "" "g.13073493C>T" "" "pathogenic (dominant)" "" "0000368938" "0" "90" "19" "13184781" "13184781" "subst" "0" "00700" "NFIX_000059" "g.13184781C>G" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.759C>G" "" "De novo" "" "" "0" "" "" "g.13073967C>G" "" "pathogenic (dominant)" "" "0000368939" "0" "90" "19" "13184801" "13184801" "subst" "0" "00700" "NFIX_000060" "g.13184801C>G" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.779C>G" "" "De novo" "" "" "0" "" "" "g.13073987C>G" "" "pathogenic (dominant)" "" "0000368940" "0" "90" "19" "13186389" "13186389" "dup" "0" "00700" "NFIX_000061" "g.13186389dup" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.859dup" "" "De novo" "" "" "0" "" "" "g.13075575dup" "" "pathogenic (dominant)" "" "0000368941" "0" "90" "19" "13189526" "13189535" "del" "0" "00700" "NFIX_000063" "g.13189526_13189535del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.1055_1064del" "" "De novo" "" "" "0" "" "" "g.13078712_13078721del" "" "pathogenic (dominant)" "" "0000368942" "0" "90" "19" "13192531" "13192531" "del" "0" "00700" "NFIX_000064" "g.13192531del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.1116del" "" "De novo" "" "" "0" "" "" "g.13081717del" "" "pathogenic (dominant)" "" "0000368943" "0" "90" "19" "13192532" "13192532" "del" "0" "00700" "NFIX_000065" "g.13192532del" "1/42 patients" "{PMID:Priolo 2018:29897170}, {DOI:Priolo 2018:10.1002/humu.23563}" "" "NM_002501.3:c.1117del" "" "De novo" "" "" "0" "" "" "g.13081718del" "" "pathogenic (dominant)" "" "0000368969" "0" "90" "19" "13135897" "13135906" "del" "0" "00700" "NFIX_000029" "g.13135897_13135906del" "" "{PMID:Klaassens 2015:25118028}" "" "NM_002501.3:c.90_99del" "" "De novo" "" "" "0" "" "" "g.13025083_13025092del" "" "pathogenic (dominant)" "" "0000368970" "0" "90" "19" "13189483" "13189483" "subst" "0" "00700" "NFIX_000062" "g.13189483C>T" "" "{PMID:Klaassens 2015:25118028}" "" "NM_002501.3:c.1012C>T" "" "De novo" "" "" "0" "" "" "g.13078669C>T" "" "pathogenic (dominant)" "" "0000368971" "0" "90" "19" "13135919" "13135919" "subst" "0" "00700" "NFIX_000031" "g.13135919C>T" "" "{PMID:Martinez 2015:26200704}" "" "NM_001271043.2:c.136C>T" "" "De novo" "" "" "0" "" "" "g.13025105C>T" "" "pathogenic (dominant)" "" "0000368972" "0" "90" "19" "13135968" "13135968" "subst" "0" "00700" "NFIX_000036" "g.13135968G>C" "" "{PMID:Martinez 2015:26200704}" "" "NM_001271043.2:c.185G>C" "" "De novo" "" "" "0" "" "" "g.13025154G>C" "" "pathogenic (dominant)" "" "0000368973" "0" "90" "19" "13135986" "13135986" "subst" "0" "00700" "NFIX_000037" "g.13135986T>C" "" "{PMID:Yoneda 2012:22301465}" "" "NM_002501.3:c.179T>C" "" "De novo" "" "" "0" "" "" "g.13025172T>C" "" "pathogenic (dominant)" "" "0000368974" "0" "90" "19" "13136169" "13136169" "subst" "0" "00700" "NFIX_000056" "g.13136169G>C" "" "{PMID:Yoneda 2012:22301465}" "" "NM_002501.3:c.362G>C" "maternally inherited" "Germline" "" "" "0" "" "" "g.13025355G>C" "" "pathogenic (dominant)" "" "0000368975" "0" "90" "19" "13135964" "13135984" "del" "0" "00700" "NFIX_000035" "g.13135964_13135984del" "" "{PMID:Priolo 2012:22982744}" "" "NM_002501.3:c.157_177del" "" "De novo" "" "" "0" "" "" "g.13025150_13025170del" "" "pathogenic (dominant)" "" "0000368976" "0" "90" "19" "13136154" "13136154" "subst" "0" "00700" "NFIX_000055" "g.13136154G>C" "" "{PMID:Gurrieri 2015:26193383}" "" "NM_002501.3:c.347G>C" "" "De novo" "" "" "0" "" "" "g.13025340G>C" "" "pathogenic (dominant)" "" "0000368977" "0" "90" "19" "13136180" "13136180" "subst" "0" "00700" "NFIX_000055" "g.13136180A>G" "" "{PMID:Gurrieri 2015:26193383}" "" "NM_002501.3:c.373A>G" "" "De novo" "" "" "0" "" "" "g.13025366A>G" "" "pathogenic (dominant)" "" "0000368978" "0" "90" "19" "13135998" "13135998" "del" "0" "00700" "NFIX_000040" "g.13135998del" "" "{PMID:Gurrieri 2015:26193383}" "" "NM_002501.3:c.191del" "" "De novo" "" "" "0" "" "" "g.13025184del" "" "pathogenic (dominant)" "" "0000368979" "0" "90" "19" "13136076" "13136076" "dup" "0" "00700" "NFIX_000043" "g.13136076dup" "" "{PMID:Oshima 2017:28584646}" "" "NM_001271043.2:c.290_291insA" "" "De novo" "" "" "0" "" "" "g.13025262dup" "" "pathogenic (dominant)" "" "0000368980" "0" "90" "19" "13136150" "13136150" "subst" "0" "00700" "NFIX_000021" "g.13136150C>T" "" "{PMID:Jezela-Stanek 2016:26927468}" "" "NM_001271043.2:c.367C>T" "" "De novo" "" "" "0" "" "" "g.13025336C>T" "" "pathogenic (dominant)" "" "0000368981" "0" "90" "19" "13183869" "13183869" "subst" "0" "00700" "NFIX_000057" "g.13183869C>T" "" "{PMID:Malan 2010:20673863}" "" "NM_002501.3:c.568C>T" "" "De novo" "" "" "0" "" "" "g.13073055C>T" "" "pathogenic (dominant)" "" "0000368982" "0" "90" "19" "13136182" "13136182" "subst" "0" "00700" "NFIX_000055" "g.13136182G>T" "" "{PMID:Lu 2017:29142766}" "" "NM_002501.3:c.375G>T" "" "Germline" "" "" "0" "" "" "g.13025368G>T" "" "pathogenic (dominant)" "" "0000408748" "0" "90" "19" "13201182" "13201182" "del" "0" "00006" "NFIX_000067" "g.13201182del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "1496delT" "" "De novo" "" "" "0" "" "" "g.13090368del" "" "pathogenic (dominant)" "" "0000566151" "0" "30" "19" "13136059" "13136059" "subst" "8.53208E-5" "01943" "NFIX_000070" "g.13136059G>T" "" "" "" "NFIX(NM_001271043.2):c.276G>T (p.R92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025245G>T" "" "likely benign" "" "0000566152" "0" "30" "19" "13136105" "13136105" "subst" "0" "01943" "NFIX_000071" "g.13136105C>T" "" "" "" "NFIX(NM_001271043.2):c.322C>T (p.P108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025291C>T" "" "likely benign" "" "0000566153" "0" "70" "19" "13136154" "13136154" "subst" "0" "02329" "NFIX_000054" "g.13136154G>A" "" "" "" "NFIX(NM_001271043.2):c.371G>A (p.R124Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025340G>A" "" "likely pathogenic" "" "0000566154" "0" "30" "19" "13184753" "13184753" "subst" "0" "02327" "NFIX_000072" "g.13184753C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13073939C>T" "" "likely benign" "" "0000566156" "0" "30" "19" "13192555" "13192555" "subst" "0.00234378" "01943" "NFIX_000074" "g.13192555G>A" "" "" "" "NFIX(NM_001365902.1):c.1140G>A (p.S380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13081741G>A" "" "likely benign" "" "0000566157" "0" "50" "19" "13201126" "13201126" "subst" "0" "01804" "NFIX_000075" "g.13201126A>C" "" "" "" "NFIX(NM_001271043.1):c.1440A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13090312A>C" "" "VUS" "" "0000617364" "0" "50" "19" "13136027" "13136027" "subst" "0" "02325" "NFIX_000076" "g.13136027C>T" "" "" "" "NFIX(NM_001271043.2):c.244C>T (p.R82W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025213C>T" "" "VUS" "" "0000617365" "0" "30" "19" "13136170" "13136170" "subst" "0" "01943" "NFIX_000077" "g.13136170C>T" "" "" "" "NFIX(NM_001271043.2):c.387C>T (p.R129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025356C>T" "" "likely benign" "" "0000617366" "0" "90" "19" "13136367" "13136367" "subst" "0" "01943" "NFIX_000078" "g.13136367G>A" "" "" "" "NFIX(NM_001365902.1):c.559+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025553G>A" "" "pathogenic" "" "0000617367" "0" "70" "19" "13184307" "13184307" "subst" "0" "02327" "NFIX_000058" "g.13184307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13073493C>T" "" "likely pathogenic" "" "0000617368" "0" "30" "19" "13198831" "13198831" "subst" "0" "02327" "NFIX_000079" "g.13198831C>T" "" "" "" "NFIX(NM_001271043.2):c.1307C>T (p.P436L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13088017C>T" "" "likely benign" "" "0000617369" "0" "50" "19" "13198831" "13198831" "subst" "0" "02325" "NFIX_000079" "g.13198831C>T" "" "" "" "NFIX(NM_001271043.2):c.1307C>T (p.P436L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13088017C>T" "" "VUS" "" "0000617370" "0" "30" "19" "13211521" "13211521" "subst" "0.000451054" "01804" "NFIX_000080" "g.13211521C>T" "" "" "" "LYL1(NM_005583.4):c.377G>A (p.(Ser126Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13100707C>T" "" "likely benign" "" "0000624896" "0" "70" "19" "13136203" "13136208" "del" "0" "01807" "NFIX_000081" "g.13136203_13136208del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13025389_13025394del" "" "likely pathogenic" "" "0000647136" "0" "90" "19" "13186486" "13186486" "subst" "0" "01164" "NFIX_000009" "g.13186486G>A" "" "" "" "" "ACMG: PVS1,PM2,PM6; Malan et al. 2010. Am J Hum Genet 87: 189" "Germline" "" "rs398122876" "0" "" "" "g.13075672G>A" "" "pathogenic" "ACMG" "0000649901" "1" "90" "19" "13136168" "13136168" "subst" "0" "03575" "NFIX_000082" "g.13136168C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044911}" "Germline" "" "rs797044911" "0" "" "" "g.13025354C>T" "" "pathogenic" "" "0000649902" "1" "90" "19" "13136327" "13136327" "subst" "0" "03575" "NFIX_000057" "g.13136327G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs786205515}" "Germline" "" "rs786205515" "0" "" "" "g.13025513G>T" "" "pathogenic" "" "0000673998" "0" "70" "19" "13136180" "13136180" "subst" "0" "01164" "NFIX_000055" "g.13136180A>G" "" "Gurrieri et al. 2015. Eur J Med Genet 58: 488" "" "" "ACMG grading: PM1,PM2,PM5,PP3\r\n9 month old female individual; Global development delay, muscular hypotension, little eye contact" "Germline" "" "" "0" "" "" "g.13025366A>G" "" "likely pathogenic" "ACMG" "0000692695" "0" "30" "19" "13198853" "13198853" "subst" "0.000135906" "01943" "NFIX_000083" "g.13198853G>A" "" "" "" "NFIX(NM_001271043.2):c.1329G>A (p.P443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13088039G>A" "" "likely benign" "" "0000698194" "0" "90" "19" "13136043" "13136043" "subst" "0" "00006" "NFIX_000084" "g.13136043T>C" "" "{PMID:Zhu 2015:25590979}" "" "236T>C" "" "De novo" "" "" "0" "" "" "g.13025229T>C" "" "pathogenic (dominant)" "" "0000727146" "0" "90" "19" "13136047" "13136047" "del" "0" "02329" "NFIX_000069" "g.13136047del" "" "" "" "NFIX(NM_001271043.2):c.264delC (p.K89Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025233del" "" "pathogenic" "" "0000727147" "0" "70" "19" "13183887" "13183887" "subst" "0" "02327" "NFIX_000085" "g.13183887C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13073073C>T" "" "likely pathogenic" "" "0000727148" "0" "90" "19" "13192508" "13192508" "del" "0" "02329" "NFIX_000023" "g.13192508del" "" "" "" "NFIX(NM_001271043.2):c.1117delA (p.T373Qfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13081694del" "" "pathogenic" "" "0000730027" "0" "90" "19" "13136327" "13136327" "subst" "0" "00000" "NFIX_000057" "g.13136327G>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001271043.1:c.544G>T:p.(Glu182*)" "" "De novo" "" "" "0" "" "" "g.13025513G>T" "" "likely pathogenic (dominant)" "" "0000730028" "0" "90" "19" "13136007" "13136008" "dup" "0" "00000" "NFIX_000041" "g.13136007_13136008dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001271043.1:c.224_225dup:p.(Lys76Serfs*27)" "" "De novo" "" "" "0" "" "" "g.13025193_13025194dup" "" "likely pathogenic (dominant)" "" "0000763239" "1" "90" "19" "13136029" "13136030" "ins" "0" "00006" "NFIX_000086" "g.13136029_13136030insTC" "" "{PMID:Anazi 2017:27431290}" "" "NM_002501.3:c.222_223insTC" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "g.13025215_13025216insTC" "" "pathogenic" "ACMG" "0000808686" "0" "30" "19" "13136293" "13136293" "subst" "0" "01943" "NFIX_000087" "g.13136293C>T" "" "" "" "NFIX(NM_001365902.1):c.486C>T (p.C162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025479C>T" "" "likely benign" "" "0000808687" "0" "50" "19" "13192611" "13192611" "subst" "0" "01943" "NFIX_000088" "g.13192611C>T" "" "" "" "NFIX(NM_001365902.1):c.1196C>T (p.S399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13081797C>T" "" "VUS" "" "0000839629" "0" "90" "19" "13184743" "13184769" "delins" "0" "04221" "NFIX_000089" "g.13184743_13184769delinsATGATGT" "" "{PMID:Reyna-Fabian 2024:38909058}" "BtsCI+, FokI+, AciI-, ApaI-" "" "ACMG PVS1, PM2, PP3; variant not previously reported in public databases or literature" "Germline/De novo (untested)" "?" "" "0" "" "" "g.13073929_13073955delinsATGATGT" "" "pathogenic (dominant)" "ACMG" "0000841169" "0" "90" "19" "13136203" "13136208" "del" "0" "00006" "NFIX_000081" "g.13136203_13136208del" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "" "g.13025389_13025394del" "" "pathogenic (dominant)" "" "0000847866" "0" "30" "19" "13135757" "13135759" "del" "0" "03779" "NFIX_000090" "g.13135757_13135759del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1330009306" "0" "" "" "g.13024943_13024945del" "" "likely benign" "" "0000855449" "0" "50" "19" "13106668" "13106668" "subst" "0" "01943" "NFIX_000091" "g.13106668G>A" "" "" "" "NFIX(NM_001365902.1):c.17G>A (p.C6Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12995854G>A" "" "VUS" "" "0000855450" "0" "70" "19" "13135961" "13135961" "subst" "0" "02327" "NFIX_000092" "g.13135961G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13025147G>A" "" "likely pathogenic" "" "0000894793" "0" "30" "19" "13189422" "13189422" "subst" "4.99188E-5" "01804" "NFIX_000093" "g.13189422C>G" "" "" "" "NFIX(NM_001271043.1):c.980-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13078608C>G" "" "likely benign" "" "0000894794" "0" "50" "19" "13201122" "13201122" "subst" "0" "02329" "NFIX_000094" "g.13201122C>T" "" "" "" "NFIX(NM_001365982.2):c.1141C>T (p.R381*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13090308C>T" "" "VUS" "" "0000894795" "0" "50" "19" "13201146" "13201146" "subst" "4.06398E-6" "02325" "NFIX_000095" "g.13201146G>A" "" "" "" "NFIX(NM_001271043.2):c.1460G>A (p.R487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13090332G>A" "" "VUS" "" "0000926816" "0" "90" "19" "13183919" "13183920" "del" "0" "02329" "NFIX_000096" "g.13183919_13183920del" "" "" "" "NFIX(NM_001365902.3):c.618_619delCA (p.N207Rfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13073105_13073106del" "" "pathogenic" "" "0000927877" "0" "70" "19" "13136284" "13136284" "del" "0" "01164" "NFIX_000097" "g.13136284del" "" "" "" "" "ACMG: PVS1, PS2_MOD, PM2_SUP" "De novo" "-" "" "" "" "" "g.13025470del" "" "pathogenic (dominant)" "ACMG" "0000939832" "0" "70" "19" "13136274" "13136274" "subst" "0" "00006" "NFIX_000098" "g.13136274G>C" "" "{PMID:Nambot 2018:29095811}" "" "NM_002501.2:c.467G>C" "" "De novo" "" "" "0" "" "" "g.13025460G>C" "" "likely pathogenic (dominant)" "" "0000951217" "0" "50" "19" "13201125" "13201125" "subst" "0" "02325" "NFIX_000099" "g.13201125C>T" "" "" "" "NFIX(NM_001271043.2):c.1439C>T (p.T480I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960256" "0" "70" "19" "13136081" "13136081" "del" "0" "00006" "NFIX_000100" "g.13136081del" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.13025267del" "" "likely pathogenic (dominant)" "" "0000983218" "0" "50" "19" "13184795" "13184795" "subst" "0" "01804" "NFIX_000101" "g.13184795A>T" "" "" "" "NFIX(NM_001365902.3):c.773A>T (p.(Gln258Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983219" "0" "50" "19" "13198955" "13198955" "subst" "0" "02327" "NFIX_000102" "g.13198955G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983220" "0" "50" "19" "13216393" "13216394" "del" "8.15322E-6" "01804" "LYL1_000004" "g.13216393_13216394del" "" "" "" "TRMT1(NM_001136035.2):c.1610_1611delAA (p.(Glu537fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983221" "0" "50" "19" "13216396" "13216408" "del" "8.159E-6" "01804" "LYL1_000005" "g.13216396_13216408del" "" "" "" "TRMT1(NM_001136035.2):c.1596_1608delCTTCACCATCCGG (p.(Asn532fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985764" "0" "90" "19" "13136132" "13136132" "subst" "0" "00006" "NFIX_000049" "g.13136132G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.13025318G>T" "" "pathogenic (dominant)" "" "0000985765" "0" "90" "19" "13135961" "13135962" "ins" "0" "00006" "NFIX_000034" "g.13135961_13135962insT" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.13025147_13025148insT" "" "pathogenic (dominant)" "" "0000985766" "0" "90" "19" "13184801" "13184801" "subst" "0" "00006" "NFIX_000060" "g.13184801C>G" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.13073987C>G" "" "pathogenic (dominant)" "" "0000985767" "0" "90" "19" "13201151" "13201151" "del" "0" "00006" "NFIX_000107" "g.13201151del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "NM_002501:1293delG" "" "De novo" "" "" "0" "" "" "g.13090337del" "" "pathogenic (dominant)" "" "0000985768" "0" "90" "19" "13136270" "13136270" "subst" "0" "00006" "NFIX_000056" "g.13136270C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.13025456C>T" "" "pathogenic (dominant)" "" "0000985769" "0" "90" "19" "13136190" "13136190" "subst" "0" "00006" "NFIX_000056" "g.13136190G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025376G>A" "" "pathogenic (dominant)" "" "0000985770" "0" "90" "19" "13186451" "13186452" "ins" "0" "00006" "NFIX_000106" "g.13186451_13186452insTGTGGGA" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13075637_13075638insTGTGGGA" "" "pathogenic (dominant)" "" "0000985771" "0" "90" "19" "13136190" "13136190" "subst" "0" "00006" "NFIX_000056" "g.13136190G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025376G>A" "" "pathogenic (dominant)" "" "0000985772" "0" "90" "19" "13135920" "13135920" "subst" "0" "00006" "NFIX_000032" "g.13135920G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025106G>T" "" "pathogenic (dominant)" "" "0000985773" "0" "90" "19" "13135856" "13135856" "subst" "0" "00006" "NFIX_000103" "g.13135856G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025042G>T" "" "pathogenic (dominant)" "" "0000985774" "0" "90" "19" "13136124" "13136124" "subst" "0" "00006" "NFIX_000047" "g.13136124C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025310C>T" "" "pathogenic (dominant)" "" "0000985775" "0" "90" "19" "13136154" "13136154" "subst" "0" "00006" "NFIX_000054" "g.13136154G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025340G>A" "" "pathogenic (dominant)" "" "0000985776" "0" "90" "19" "13136153" "13136153" "subst" "0" "00006" "NFIX_000104" "g.13136153C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13025339C>T" "" "pathogenic (dominant)" "" "0000985812" "0" "90" "19" "13184234" "13184234" "subst" "0" "00006" "NFIX_000105" "g.13184234A>G" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13073420A>G" "" "pathogenic (dominant)" "" "0001004378" "0" "50" "19" "13136373" "13136373" "subst" "0" "01804" "NFIX_000108" "g.13136373C>T" "" "" "" "NFIX(NM_002501.2):c.559+7C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004379" "0" "30" "19" "13189424" "13189424" "del" "0" "01804" "NFIX_000109" "g.13189424del" "" "" "" "NFIX(NM_002501.2):c.956-3delC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029996" "0" "50" "19" "13201117" "13201117" "subst" "0" "03779" "NFIX_000110" "g.13201117C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001042635" "0" "50" "19" "13135946" "13135946" "subst" "0" "01804" "NFIX_000111" "g.13135946C>G" "" "" "" "NFIX(NM_001365902.3):c.139C>G (p.(Arg47Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042636" "0" "70" "19" "13216080" "13216080" "subst" "0" "02329" "LYL1_000006" "g.13216080C>G" "" "" "" "TRMT1(NM_001136035.4):c.1833+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042637" "0" "50" "19" "13218611" "13218611" "subst" "0" "01804" "LYL1_000007" "g.13218611T>C" "" "" "" "TRMT1(NM_001136035.4):c.1460A>G (p.(Lys487Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046717" "0" "70" "19" "13135964" "13135964" "subst" "0" "02325" "NFIX_000112" "g.13135964G>A" "" "" "" "NFIX(NM_001271043.2):c.181G>A (p.E61K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 NFIX ## Count = 210 "{{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}}" "0000036246" "00025837" "90" "1146" "0" "1159" "0" "c.1146_1159del" "r.1146_1159del" "p.Tyr383AspfsTer35" "" "0000036247" "00025837" "90" "1392" "0" "1402" "30" "c.1392_1402+30dup" "r.1402_1403ins1402+1_1402+32ins1392_1402" "p.?" "" "0000036248" "00025837" "90" "1090" "0" "1090" "0" "c.1090dup" "r.1090dup" "p.Ala364GlyfsTer59" "" "0000036249" "00025837" "90" "819" "-592" "1079" "-808" "c.819-592_1079-808del" "r.819_1078del" "p.Ser274Argfs*63" "" "0000036250" "00025837" "90" "819" "-700" "1079" "-915" "c.819-700_1079-915del" "r.819_1078del" "p.Ser274Argfs*63" "" "0000036251" "00025837" "90" "1456" "0" "1456" "0" "c.1456del" "r.(?)" "p.(Arg486GlyfsTer6)" "" "0000036252" "00025837" "90" "1090" "0" "1090" "0" "c.1090dup" "r.(?)" "p.(Ala364GlyfsTer59)" "" "0000036253" "00025837" "90" "1048" "0" "1049" "0" "c.1048_1049insAGCG" "r.(?)" "p.(Pro350GlnfsTer74)" "" "0000036254" "00025837" "90" "955" "1" "955" "1" "c.955+1G>A" "r.spl" "p.?" "" "0000036255" "00025837" "90" "1147" "0" "1147" "0" "c.1147dup" "r.(?)" "p.(Tyr383LeufsTer40)" "" "0000036256" "00025837" "90" "864" "0" "955" "1321" "c.864_955+1321del" "r.spl" "p.?" "" "0000036257" "00025837" "90" "1456" "0" "1456" "0" "c.1456del" "r.(?)" "p.(Arg486GlyfsTer6)" "" "0000036258" "00025837" "90" "818" "561" "956" "-804" "c.818+561_956-804del" "r.?" "p.?" "" "0000036259" "00025837" "90" "819" "-484" "1079" "-700" "c.819-484_1079-700del" "r.?" "p.?" "" "0000036260" "00025837" "90" "819" "-471" "1079" "-687" "c.819-471_1079-687del" "r.?" "p.?" "" "0000036261" "00025837" "90" "819" "-733" "1079" "-948" "c.819-733_1079-948del" "r.?" "p.?" "" "0000036262" "00025837" "90" "1242" "0" "1244" "0" "c.1242_1244delinsT" "r.(?)" "p.(Gln414HisfsTer8)" "" "0000163193" "00025837" "90" "990" "0" "997" "0" "c.990_997del" "r.(?)" "p.(Asp330GlufsTer90)" "" "0000298574" "00025274" "70" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Phe31Ser)" "" "0000298575" "00025274" "90" "270" "0" "270" "0" "c.270del" "r.(?)" "p.(Phe91SerfsTer3)" "" "0000326229" "00025274" "50" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Trp)" "" "0000326230" "00025274" "50" "697" "3" "697" "6" "c.697+3_697+6del" "r.spl?" "p.?" "" "0000341765" "00025274" "70" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Arg116Gly)" "" "0000343879" "00025274" "90" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Glu187Ter)" "" "0000368902" "00025837" "90" "28" "-13" "28" "-1" "c.28-13_28-1delinsAAGCCGCCTGCAA" "r.27_28insccgcctgcaa" "p.Asp10Profs*5" "" "0000368903" "00025837" "90" "43" "0" "49" "0" "c.43_49dup" "r.(?)" "p.(Glu17ValfsTer31)" "" "0000368904" "00025837" "90" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Pro)" "" "0000368905" "00025837" "90" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Phe31Ser)" "" "0000368906" "00025837" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000368907" "00025837" "90" "113" "0" "113" "0" "c.113G>T" "r.(?)" "p.(Arg38Leu)" "" "0000368908" "00025274" "90" "142" "0" "142" "0" "c.142del" "r.(?)" "p.(Met48Cysfs*9)" "2" "0000368908" "00025837" "90" "142" "0" "142" "0" "c.142del" "r.(?)" "p.(Met48CysfsTer9)" "" "0000368909" "00025274" "90" "154" "0" "155" "0" "c.154_155insT" "r.(?)" "p.(Glu52Valfs*67)" "2" "0000368909" "00025837" "90" "154" "0" "155" "0" "c.154_155insT" "r.(?)" "p.(Glu52ValfsTer67)" "" "0000368910" "00025274" "90" "157" "0" "177" "0" "c.157_177del" "r.(?)" "p.(Glu53_Glu59del)" "2" "0000368910" "00025837" "90" "157" "0" "177" "0" "c.157_177del" "r.(?)" "p.(Glu53_Glu59del)" "" "0000368911" "00025274" "90" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Leu61Pro)" "2" "0000368911" "00025837" "90" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Leu61Pro)" "" "0000368912" "00025274" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Glu63*)" "2" "0000368912" "00025837" "90" "187" "0" "187" "0" "c.187G>T" "r.(?)" "p.(Glu63Ter)" "" "0000368913" "00025274" "90" "200" "0" "201" "0" "c.200_201dup" "r.(?)" "p.(Lys68Serfs*27)" "2" "0000368913" "00025837" "90" "200" "0" "201" "0" "c.200_201dup" "r.(?)" "p.(Lys68SerfsTer27)" "" "0000368914" "00025274" "90" "248" "0" "248" "0" "c.248T>G" "r.(?)" "p.(Ile83Ser)" "2" "0000368914" "00025837" "90" "248" "0" "248" "0" "c.248T>G" "r.(?)" "p.(Ile83Ser)" "" "0000368915" "00025274" "90" "280" "0" "280" "0" "c.280A>C" "r.(?)" "p.(Thr94Pro)" "2" "0000368915" "00025837" "90" "280" "0" "280" "0" "c.280A>C" "r.(?)" "p.(Thr94Pro)" "" "0000368916" "00025274" "90" "294" "0" "294" "0" "c.294del" "r.(?)" "p.(Lys99Serfs*36)" "2" "0000368916" "00025837" "90" "294" "0" "294" "0" "c.294del" "r.(?)" "p.(Lys99SerfsTer36)" "" "0000368917" "00025274" "90" "315" "0" "316" "0" "c.315_316insGGT" "r.(?)" "p.(Leu105_Ser106insGly)" "2" "0000368917" "00025837" "90" "315" "0" "316" "0" "c.315_316insGGT" "r.(?)" "p.(Leu105_Ser106insGly)" "" "0000368918" "00025274" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Ser106Phe)" "2" "0000368918" "00025837" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Ser106Phe)" "" "0000368919" "00025274" "90" "322" "0" "323" "0" "c.322_323delinsA" "r.(?)" "p.(Pro108Thrfs*27)" "2" "0000368919" "00025837" "90" "322" "0" "323" "0" "c.322_323delinsA" "r.(?)" "p.(Pro108ThrfsTer27)" "" "0000368920" "00025274" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Asp109Tyr)" "2" "0000368920" "00025837" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Asp109Tyr)" "" "0000368921" "00025274" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110*)" "2" "0000368921" "00025837" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110Ter)" "" "0000368922" "00025274" "90" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Lys113Glu)" "2" "0000368922" "00025837" "90" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Lys113Glu)" "" "0000368923" "00025274" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Trp)" "2" "0000368923" "00025837" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Trp)" "" "0000368924" "00025274" "90" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Arg116Gly)" "2" "0000368924" "00025837" "90" "346" "0" "346" "0" "c.346C>G" "r.(?)" "p.(Arg116Gly)" "" "0000368925" "00025274" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "2" "0000368925" "00025837" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0000368926" "00025274" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "2" "0000368926" "00025837" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0000368927" "00025274" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Leu120Cysfs*15)" "2" "0000368927" "00025837" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Leu120CysfsTer15)" "" "0000368928" "00025274" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "2" "0000368928" "00025837" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000368929" "00025274" "90" "408" "0" "408" "0" "c.408delinsTT" "r.(?)" "p.(Leu136Phefs*3)" "2" "0000368929" "00025837" "90" "408" "0" "408" "0" "c.408delinsTT" "r.(?)" "p.(Leu136PhefsTer3)" "" "0000368930" "00025274" "90" "412" "0" "413" "0" "c.412_413delinsG" "r.(?)" "p.(Lys138Glyfs*73)" "2" "0000368930" "00025837" "90" "412" "0" "413" "0" "c.412_413delinsG" "r.(?)" "p.(Lys138GlyfsTer73)" "" "0000368931" "00025274" "90" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Glu148Asp)" "2" "0000368931" "00025837" "90" "444" "0" "444" "0" "c.444G>C" "r.(?)" "p.(Glu148Asp)" "" "0000368932" "00025274" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155*)" "2" "0000368932" "00025837" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155Ter)" "" "0000368933" "00025274" "90" "499" "0" "499" "0" "c.499C>A" "r.(?)" "p.(His167Asn)" "2" "0000368933" "00025837" "90" "499" "0" "499" "0" "c.499C>A" "r.(?)" "p.(His167Asn)" "" "0000368934" "00025274" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174*)" "2" "0000368934" "00025837" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174Ter)" "" "0000368935" "00025274" "90" "542" "0" "542" "0" "c.542dup" "r.(?)" "p.(Tyr181*)" "2" "0000368935" "00025837" "90" "542" "0" "542" "0" "c.542dup" "r.(?)" "p.(Tyr181Ter)" "" "0000368936" "00025274" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232*)" "4" "0000368936" "00025837" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232Ter)" "" "0000368937" "00025274" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232*)" "4" "0000368937" "00025837" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232Ter)" "" "0000368938" "00025274" "90" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Tyr253*)" "5" "0000368938" "00025837" "90" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Tyr253Ter)" "" "0000368939" "00025274" "90" "779" "0" "779" "0" "c.779C>G" "r.(?)" "p.(Thr260Ser)" "2" "0000368939" "00025837" "90" "779" "0" "779" "0" "c.779C>G" "r.(?)" "p.(Thr260Ser)" "" "0000368940" "00025274" "90" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(Glu287Glyfs*5)" "6" "0000368940" "00025837" "90" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(Glu287GlyfsTer5)" "" "0000368941" "00025274" "90" "1055" "0" "1064" "0" "c.1055_1064del" "r.(?)" "p.(Pro352Leufs*46)" "7" "0000368941" "00025837" "90" "1055" "0" "1064" "0" "c.1055_1064del" "r.(?)" "p.(Pro352LeufsTer46)" "" "0000368942" "00025274" "90" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Ser373Profs*28)" "8" "0000368942" "00025837" "90" "1116" "0" "1116" "0" "c.1116del" "r.(?)" "p.(Ser373ProfsTer28)" "" "0000368943" "00025274" "90" "1117" "0" "1117" "0" "c.1117del" "r.(?)" "p.(Ser373Profs*28)" "8" "0000368943" "00025837" "90" "1117" "0" "1117" "0" "c.1117del" "r.(?)" "p.(Ser373ProfsTer28)" "" "0000368969" "00025274" "90" "90" "0" "99" "0" "c.90_99del" "r.(?)" "p.(Trp30Cysfs*24)" "2" "0000368969" "00025837" "90" "90" "0" "99" "0" "c.90_99del" "r.(?)" "p.(Trp30CysfsTer24)" "" "0000368970" "00025274" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Gln338*)" "7" "0000368970" "00025837" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Gln338Ter)" "" "0000368971" "00025274" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "2" "0000368971" "00025837" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000368972" "00025274" "90" "161" "0" "161" "0" "c.161G>C" "r.(?)" "p.(Arg54Pro)" "2" "0000368972" "00025837" "90" "161" "0" "161" "0" "c.161G>C" "r.(?)" "p.(Arg54Pro)" "" "0000368973" "00025274" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "2" "0000368973" "00025837" "90" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0000368974" "00025274" "90" "362" "0" "362" "0" "c.362G>C" "r.(?)" "p.(Arg121Pro)" "2" "0000368974" "00025837" "90" "362" "0" "362" "0" "c.362G>C" "r.(?)" "p.(Arg121Pro)" "" "0000368975" "00025274" "90" "157" "0" "177" "0" "c.157_177del" "r.(?)" "p.(Glu53_Glu59del)" "2" "0000368975" "00025837" "90" "157" "0" "177" "0" "c.157_177del" "r.(?)" "p.(Glu53_Glu59del)" "" "0000368976" "00025274" "90" "347" "0" "347" "0" "c.347G>C" "r.(?)" "p.(Arg116Pro)" "2" "0000368976" "00025837" "90" "347" "0" "347" "0" "c.347G>C" "r.(?)" "p.(Arg116Pro)" "" "0000368977" "00025274" "90" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Lys125Glu)" "2" "0000368977" "00025837" "90" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Lys125Glu)" "" "0000368978" "00025274" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Lys64Serfs*30)" "2" "0000368978" "00025837" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Lys64SerfsTer30)" "" "0000368979" "00025274" "90" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Asp90Glufs*29)" "2" "0000368979" "00025837" "90" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Asp90GlufsTer29)" "" "0000368980" "00025274" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Trp)" "2" "0000368980" "00025837" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Trp)" "" "0000368981" "00025274" "90" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Gln190*)" "3" "0000368981" "00025837" "90" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Gln190Ter)" "" "0000368982" "00025274" "90" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Lys125Asn)" "2" "0000368982" "00025837" "90" "375" "0" "375" "0" "c.375G>T" "r.(?)" "p.(Lys125Asn)" "" "0000408748" "00025837" "90" "1472" "0" "1472" "0" "c.1472del" "r.(?)" "p.(Leu491ArgfsTer106)" "" "0000566151" "00025274" "30" "252" "0" "252" "0" "c.252G>T" "r.(?)" "p.(Arg84=)" "" "0000566152" "00025274" "30" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Pro100Ser)" "" "0000566153" "00025274" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0000566154" "00025274" "30" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ser244Phe)" "" "0000566156" "00025274" "30" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(Ser380=)" "" "0000566157" "00025274" "50" "1268" "0" "1268" "0" "c.1268A>C" "r.(?)" "p.(Gln423Pro)" "" "0000617364" "00025274" "50" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Trp)" "" "0000617365" "00025274" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Arg121=)" "" "0000617366" "00025274" "90" "559" "1" "559" "1" "c.559+1G>A" "r.spl?" "p.?" "" "0000617367" "00025274" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232Ter)" "" "0000617368" "00025274" "30" "1255" "-2282" "1255" "-2282" "c.1255-2282C>T" "r.(=)" "p.(=)" "" "0000617369" "00025274" "50" "1255" "-2282" "1255" "-2282" "c.1255-2282C>T" "r.(=)" "p.(=)" "" "0000617370" "00025274" "30" "7419" "0" "7419" "0" "c.*6093C>T" "r.(=)" "p.(=)" "" "0000624896" "00025837" "70" "396" "0" "401" "0" "c.396_401del" "r.(?)" "p.(Met133_Val134del)" "" "0000647136" "00025274" "90" "955" "1" "955" "1" "c.955+1G>A" "r.(?)" "p.(?)" "" "0000647136" "00025837" "90" "955" "1" "955" "1" "c.955+1G>A" "r.spl" "p.?" "" "0000649901" "00025274" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" "0000649901" "00025837" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" "0000649902" "00025274" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174*)" "" "0000649902" "00025837" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174Ter)" "" "0000673998" "00025274" "70" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Lys125Glu)" "" "0000673998" "00025837" "70" "373" "0" "373" "0" "c.373A>G" "r.(?)" "p.(Lys125Glu)" "" "0000692695" "00025274" "30" "1255" "-2260" "1255" "-2260" "c.1255-2260G>A" "r.(=)" "p.(=)" "" "0000698194" "00025837" "90" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Leu79Pro)" "" "0000727146" "00025274" "90" "240" "0" "240" "0" "c.240del" "r.(?)" "p.(Lys81ArgfsTer13)" "" "0000727147" "00025274" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "" "0000727148" "00025274" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Thr365GlnfsTer36)" "" "0000730027" "00025274" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174*)" "" "0000730027" "00025837" "90" "520" "0" "520" "0" "c.520G>T" "r.(?)" "p.(Glu174Ter)" "" "0000730028" "00025274" "90" "200" "0" "201" "0" "c.200_201dup" "r.(?)" "p.(Lys68Serfs*27)" "" "0000730028" "00025837" "90" "200" "0" "201" "0" "c.200_201dup" "r.(?)" "p.(Lys68SerfsTer27)" "" "0000763239" "00025274" "90" "222" "0" "223" "0" "c.222_223insTC" "r.(?)" "p.(Leu75Serfs*20)" "" "0000763239" "00025837" "90" "222" "0" "223" "0" "c.222_223insTC" "r.(?)" "p.(Leu75SerfsTer20)" "" "0000808686" "00025274" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Cys162=)" "" "0000808687" "00025274" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Ser399Leu)" "" "0000839629" "00025837" "90" "721" "0" "747" "0" "c.721_747delinsATGATGT" "r.(?)" "p.(Pro241MetfsTer3)" "" "0000841169" "00025837" "90" "396" "0" "401" "0" "c.396_401del" "r.(?)" "p.(Met133_Val134del)" "" "0000847866" "00025837" "30" "28" "-78" "28" "-76" "c.28-78_28-76del" "r.(?)" "p.?" "" "0000855449" "00025274" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Cys6Tyr)" "" "0000855449" "00025837" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Cys6Tyr)" "" "0000855450" "00025274" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000855450" "00025837" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000894793" "00025274" "30" "956" "-5" "956" "-5" "c.956-5C>G" "r.spl?" "p.?" "" "0000894793" "00025837" "30" "956" "-5" "956" "-5" "c.956-5C>G" "r.spl?" "p.?" "" "0000894794" "00025274" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422*)" "" "0000894794" "00025837" "50" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Thr471Met)" "" "0000894795" "00025274" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Gly430Ser)" "" "0000894795" "00025837" "50" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479Gln)" "" "0000926816" "00025274" "90" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Asn207Argfs*76)" "" "0000926816" "00025837" "90" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Asn207Argfs*76)" "" "0000927877" "00025837" "70" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Gly160AlafsTer51)" "" "0000939832" "00025274" "70" "467" "0" "467" "0" "c.467G>C" "r.(?)" "p.(Cys156Ser)" "" "0000951217" "00025274" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000960256" "00025837" "70" "274" "0" "274" "0" "c.274del" "r.(?)" "p.(Val92CysfsTer2)" "" "0000983218" "00025274" "50" "773" "0" "773" "0" "c.773A>T" "r.(?)" "p.(Gln258Leu)" "" "0000983219" "00025274" "50" "1255" "-2158" "1255" "-2158" "c.1255-2158G>A" "r.(=)" "p.(=)" "" "0000983220" "00025274" "50" "12291" "0" "12292" "0" "c.*10965_*10966del" "r.(=)" "p.(=)" "" "0000983221" "00025274" "50" "12294" "0" "12306" "0" "c.*10968_*10980del" "r.(=)" "p.(=)" "" "0000985764" "00025837" "90" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Asp109Tyr)" "" "0000985765" "00025837" "90" "154" "0" "155" "0" "c.154_155insT" "r.(?)" "p.(Glu52ValfsTer67)" "" "0000985766" "00025837" "90" "779" "0" "779" "0" "c.779C>G" "r.(?)" "p.(Thr260Ser)" "" "0000985767" "00025837" "90" "1441" "0" "1441" "0" "c.1441del" "r.(?)" "p.(Val481SerfsTer11)" "" "0000985768" "00025837" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155Ter)" "" "0000985769" "00025837" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000985770" "00025837" "90" "921" "0" "922" "0" "c.921_922insTGTGGGA" "r.(?)" "p.(Gln308CysfsTer117)" "" "0000985771" "00025837" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128Gln)" "" "0000985772" "00025837" "90" "113" "0" "113" "0" "c.113G>T" "r.(?)" "p.(Arg38Leu)" "" "0000985773" "00025837" "90" "49" "0" "49" "0" "c.49G>T" "r.(?)" "p.(Glu17Ter)" "" "0000985774" "00025837" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Ser106Phe)" "" "0000985775" "00025837" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "0000985776" "00025837" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0000985812" "00025837" "90" "623" "-2" "623" "-2" "c.623-2A>G" "r.spl" "p.?" "" "0001004378" "00025274" "50" "559" "7" "559" "7" "c.559+7C>T" "r.(=)" "p.(=)" "" "0001004379" "00025274" "30" "956" "-3" "956" "-3" "c.956-3del" "r.spl?" "p.?" "" "0001029996" "00025274" "50" "1259" "0" "1259" "0" "c.1259C>A" "r.(?)" "p.(Ser420Ter)" "" "0001042635" "00025274" "50" "139" "0" "139" "0" "c.139C>G" "r.(?)" "p.(Arg47Gly)" "" "0001042636" "00025274" "70" "11978" "0" "11978" "0" "c.*10652C>G" "r.(=)" "p.(=)" "" "0001042637" "00025274" "50" "14509" "0" "14509" "0" "c.*13183T>C" "r.(=)" "p.(=)" "" "0001046717" "00025274" "70" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000016431" "0000036246" "0000016432" "0000036247" "0000016433" "0000036248" "0000016434" "0000036249" "0000016435" "0000036250" "0000016436" "0000036251" "0000016437" "0000036252" "0000016438" "0000036253" "0000016439" "0000036254" "0000016440" "0000036255" "0000016441" "0000036256" "0000016442" "0000036257" "0000016443" "0000036258" "0000016444" "0000036259" "0000016445" "0000036260" "0000016446" "0000036261" "0000016447" "0000036262" "0000100743" "0000163193" "0000165244" "0000368902" "0000165245" "0000368903" "0000165246" "0000368904" "0000165247" "0000368905" "0000165248" "0000368906" "0000165249" "0000368907" "0000165250" "0000368908" "0000165251" "0000368909" "0000165252" "0000368910" "0000165253" "0000368911" "0000165254" "0000368912" "0000165255" "0000368913" "0000165256" "0000368914" "0000165257" "0000368915" "0000165258" "0000368916" "0000165259" "0000368917" "0000165260" "0000368918" "0000165261" "0000368919" "0000165262" "0000368920" "0000165263" "0000368921" "0000165264" "0000368922" "0000165265" "0000368923" "0000165266" "0000368924" "0000165267" "0000368925" "0000165268" "0000368926" "0000165269" "0000368927" "0000165270" "0000368928" "0000165271" "0000368929" "0000165272" "0000368930" "0000165273" "0000368931" "0000165274" "0000368932" "0000165275" "0000368933" "0000165276" "0000368934" "0000165277" "0000368935" "0000165278" "0000368936" "0000165279" "0000368937" "0000165280" "0000368938" "0000165281" "0000368939" "0000165282" "0000368940" "0000165283" "0000368941" "0000165284" "0000368942" "0000165285" "0000368943" "0000165309" "0000368969" "0000165310" "0000368970" "0000165311" "0000368971" "0000165312" "0000368972" "0000165313" "0000368973" "0000165314" "0000368974" "0000165315" "0000368975" "0000165316" "0000368976" "0000165317" "0000368977" "0000165318" "0000368978" "0000165319" "0000368979" "0000165320" "0000368980" "0000165321" "0000368981" "0000165322" "0000368982" "0000184625" "0000408748" "0000271048" "0000624896" "0000290467" "0000647136" "0000293212" "0000649901" "0000293213" "0000649902" "0000307374" "0000673998" "0000316068" "0000698194" "0000332745" "0000730027" "0000332746" "0000730028" "0000362865" "0000763239" "0000404050" "0000839629" "0000405108" "0000841169" "0000436741" "0000927877" "0000441890" "0000939832" "0000449773" "0000960256" "0000451847" "0000985764" "0000451848" "0000985765" "0000451849" "0000985766" "0000451850" "0000985767" "0000451851" "0000985768" "0000451852" "0000985769" "0000451853" "0000985770" "0000451854" "0000985771" "0000451855" "0000985772" "0000451856" "0000985773" "0000451857" "0000985774" "0000451858" "0000985775" "0000451859" "0000985776" "0000451895" "0000985812"