### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIN2B) # 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}}" "GRIN2B" "glutamate receptor, ionotropic, N-methyl D-aspartate 2B" "12" "p12" "unknown" "NG_031854.1" "UD_132319585591" "" "http://www.LOVD.nl/GRIN2B" "" "1" "4586" "2904" "138252" "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/GRIN2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-14 15:58:13" "00006" "2025-09-26 10:21:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008942" "GRIN2B" "glutamate receptor, ionotropic, N-methyl D-aspartate 2B" "001" "NM_000834.3" "" "NP_000825.2" "" "" "" "-179" "5762" "4455" "14133022" "13714410" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00807" "MRD6" "mental retardation, autosomal dominant, type 6" "AD" "613970" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-02-01 18:27:16" "02012" "PCKDC" "deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)" "AR" "261680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-13 10:38:21" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "04495" "DEE27" "encephalopathy, developmental and epileptic, type 27" "AD" "616139" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2023-02-01 18:27:50" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GRIN2B" "00139" "GRIN2B" "00807" "GRIN2B" "04495" ## Individuals ## Do not remove or alter this header ## ## Count = 152 "{{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}}" "00017830" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00017831" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "F" "no" "Germany" "" "0" "" "" "" "Pat9" "00017832" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "M" "no" "Germany" "" "0" "" "" "" "Pat5" "00017833" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "F" "no" "" "" "0" "" "" "European" "" "00024243" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00039406" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00050625" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080992" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00080998" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00116814" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_124:0/1:CONTROL" "00116908" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_319:0/1:CONTROL" "00116925" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_36:0/1:CONTROL" "00116928" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_370:0/1:CONTROL" "00116966" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_469:0/1:CONTROL" "00164708" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00180159" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat11" "00183051" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "Trio25" "00248152" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00261174" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam8" "00290647" "" "" "" "89" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290648" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302772" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "838.321" "00302999" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat44" "00304338" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304339" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307739" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411446" "00307740" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "F" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411556" "00310674" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310675" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "" "" "United States" "" "0" "" "" "" "" "00310676" "" "" "" "2" "" "00006" "{PMID:Adams 2014:24863970}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Jew-Ashkenazi" "FamPatII1" "00310677" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310678" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}" "" "M" "" "" "" "0" "" "" "" "13932.p1" "00310679" "" "" "" "1" "" "00006" "{PMID:Epi4K Consortium 2013:23934111}" "" "M" "" "" "" "0" "" "" "" "" "00310680" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310681" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310682" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2014:25418537}" "" "" "" "" "" "0" "" "" "" "" "00310683" "" "" "" "1" "" "00006" "{PMID:Lemke 2014:24272827}" "" "F" "" "Switzerland" "" "0" "" "" "" "Pat3" "00310684" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310685" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310686" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310687" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310688" "" "" "" "1" "" "00006" "{PMID:Yavarna 2015:26077850}" "" "" "" "Qatar" "" "0" "" "" "Middel-East" "" "00310689" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310690" "" "" "" "1" "" "00006" "{PMID:Lemke 2014:24272827}" "" "F" "" "Switzerland" "" "0" "" "" "" "Pat2" "00310691" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310692" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310693" "" "" "" "1" "" "00006" "{PMID:Lemke 2014:24272827}" "" "M" "" "Switzerland" "" "0" "" "" "" "Pat1" "00310694" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "" "" "" "" "0" "" "" "" "" "00310695" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310696" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310697" "" "" "" "1" "" "00006" "{PMID:Freunscht 2013:23718928}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Germany" "" "0" "" "" "" "patient" "00310698" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310699" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310700" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310701" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310702" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26544041}" "" "M" "" "China" "" "0" "" "" "" "Pat1503" "00310703" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310704" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310705" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "" "" "" "" "0" "" "" "" "" "00310706" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310707" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310708" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310709" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310710" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310711" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310712" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310713" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310714" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310715" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310716" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310717" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310718" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310719" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310720" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310721" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310722" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310723" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310724" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310725" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310726" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310727" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310728" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310729" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310730" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310731" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "no" "Israel" "" "0" "" "" "" "Pat60" "00310732" "" "" "" "1" "" "00006" "{PMID:Tarabeux 2011:22833210}" "" "" "" "Canada" "" "0" "" "" "" "Pat3" "00310733" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310734" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310735" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310736" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310850" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}" "" "M" "" "" "" "0" "" "" "" "11691.p1" "00310851" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310852" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310853" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310854" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}" "" "M" "" "" "" "0" "" "" "" "12547.p1" "00310855" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310856" "" "" "" "1" "" "00006" "{PMID:Kenny 2014:24126926}" "" "" "" "" "" "0" "" "" "" "" "00310857" "" "" "" "1" "" "00006" "{PMID:O\'Roak 2012:23160955}" "" "F" "" "" "" "0" "" "" "" "12681.p1" "00310858" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "M" "" "" "" "0" "" "" "" "" "00310859" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310860" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310861" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310862" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310863" "" "" "" "1" "" "00006" "" "from DECIPHER database" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00310864" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00310865" "" "" "" "1" "" "00006" "{PMID:Talkowski 2012:22521361}" "" "" "" "United States" "" "0" "" "" "" "NDR25941" "00310866" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "" "" "" "" "0" "" "" "" "" "00310867" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "F" "" "" "" "0" "" "" "" "" "00310868" "" "" "" "1" "" "00006" "{PMID:Rauch 2012:23020937}" "controls" "M" "" "" "" "0" "" "" "" "Fam357" "00310965" "" "" "" "1" "" "00006" "{PMID:Soto 2017:28734458}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-349" "00310967" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-351" "00310968" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-352" "00310969" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-353" "00310973" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-359" "00310975" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-361" "00310976" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-362" "00310977" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-363" "00310978" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-364" "00310979" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-365" "00310980" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-366" "00310981" "" "" "" "1" "" "00006" "Hoffer" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-367" "00310983" "" "" "" "1" "" "00006" "Jansson" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-369" "00310986" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-372" "00310987" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-373" "00310988" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-374" "00310989" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-375" "00310994" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-380" "00310999" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-385" "00311000" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-386" "00311001" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-387" "00311002" "" "" "" "1" "" "00006" "{PMID:Lei 2017:28387813}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-388" "00311004" "" "" "" "1" "" "00006" "{PMID:Yoo 2017:28856709}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-390" "00311005" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-391" "00311006" "" "" "" "1" "" "00006" "Stosser 2017" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-392" "00311007" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-393" "00311008" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-394" "00373725" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "iw203" "00419463" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9076" "00419586" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9124" "00431202" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00431203" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat6" "00431204" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "United Kingdom (Great Britain)" "Pat7" "00431212" "" "" "" "1" "" "00006" "{PMID:Platzer 2017:28377535}" "" "" "" "" "" "0" "" "" "" "" "00431214" "" "" "" "1" "" "00006" "{PMID:Lemke 2014:24272827}" "" "" "" "Switzerland" "" "0" "" "" "" "Pat4" "00431215" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat1" "00431216" "" "" "" "1" "" "00006" "{PMID:Endele 2010:20890276}" "" "M" "" "Germany" "" "0" "" "" "" "Pat2" "00435125" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "65503" "00437992" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "48747" "00438414" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat133" "00457807" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00457982" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466038" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 154 "{{individualid}}" "{{diseaseid}}" "00017830" "00139" "00017831" "00139" "00017832" "00139" "00017833" "00139" "00024243" "00000" "00039406" "00139" "00039406" "04282" "00050625" "00198" "00080992" "00807" "00080998" "00807" "00116814" "00000" "00116908" "00000" "00116925" "00000" "00116928" "00000" "00116966" "00000" "00164708" "00198" "00180159" "00198" "00183051" "00139" "00248152" "00198" "00261174" "05162" "00290647" "00198" "00290648" "00198" "00302772" "00139" "00302999" "05521" "00304338" "00198" "00304339" "00198" "00307739" "00139" "00307740" "00139" "00310674" "05611" "00310675" "05611" "00310676" "02012" "00310676" "05611" "00310677" "05611" "00310678" "05611" "00310679" "05611" "00310680" "05611" "00310681" "05611" "00310682" "05611" "00310683" "05611" "00310684" "05611" "00310685" "05611" "00310686" "05611" "00310687" "05611" "00310688" "05611" "00310689" "05611" "00310690" "05611" "00310691" "05611" "00310692" "05611" "00310693" "05611" "00310694" "05611" "00310695" "05611" "00310696" "05611" "00310697" "05611" "00310698" "05611" "00310699" "05611" "00310700" "05611" "00310701" "05611" "00310702" "05611" "00310703" "05611" "00310704" "05611" "00310705" "05611" "00310706" "05611" "00310707" "05611" "00310708" "05611" "00310709" "05611" "00310710" "05611" "00310711" "05611" "00310712" "05611" "00310713" "05611" "00310714" "05611" "00310715" "05611" "00310716" "05611" "00310717" "05611" "00310718" "05611" "00310719" "05611" "00310720" "05611" "00310721" "05611" "00310722" "05611" "00310723" "05611" "00310724" "05611" "00310725" "05611" "00310726" "05611" "00310727" "05611" "00310728" "05611" "00310729" "05611" "00310730" "05611" "00310731" "05611" "00310732" "05611" "00310733" "05611" "00310734" "05611" "00310735" "05611" "00310736" "05611" "00310850" "05611" "00310851" "05611" "00310852" "05611" "00310853" "05611" "00310854" "05611" "00310855" "05611" "00310856" "05611" "00310857" "05611" "00310858" "05611" "00310859" "05611" "00310860" "05611" "00310861" "05611" "00310862" "05611" "00310863" "05611" "00310864" "05611" "00310865" "05611" "00310866" "05611" "00310867" "05611" "00310868" "00000" "00310965" "05611" "00310967" "05611" "00310968" "05611" "00310969" "05611" "00310973" "05611" "00310975" "05611" "00310976" "05611" "00310977" "05611" "00310978" "05611" "00310979" "05611" "00310980" "05611" "00310981" "05611" "00310983" "05611" "00310986" "05611" "00310987" "05611" "00310988" "05611" "00310989" "05611" "00310994" "05611" "00310999" "05611" "00311000" "05611" "00311001" "05611" "00311002" "05611" "00311004" "05611" "00311005" "05611" "00311006" "05611" "00311007" "05611" "00311008" "05611" "00373725" "00198" "00419463" "00198" "00419586" "00198" "00431202" "05611" "00431203" "05611" "00431204" "05611" "00431212" "05611" "00431214" "05611" "00431215" "05611" "00431216" "05611" "00435125" "00807" "00437992" "04495" "00438414" "04270" "00457807" "00139" "00457982" "00139" "00466038" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00807, 02012, 04270, 04282, 04495, 05162, 05521, 05611 ## Count = 140 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000016184" "00139" "00017830" "00006" "Isolated (sporadic)" "10y" "see paper; moderate mental retaration, no seizures, EEG irregular slow dysrhythmia, behavioral anomalies, no MRI scan anomalies, no eye anomalies, no other anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "0000016185" "00139" "00017831" "00006" "Isolated (sporadic)" "14y08m" "see paper; moderate intellectual disability, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies (hyperactivity, short attention span, sleep disturbance, stereotypies, friendliness), MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies; 24m-walk; 28m-first words" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000016186" "00139" "00017832" "00006" "Isolated (sporadic)" "14y06m" "see paper; no microcephaly, mild mental retardation, no seizures, no EEG anomalies, behavioral anomalies (short attention span, aggressiveness, stereotypies, friendliness), no MRI scan anomalies, no facial dysmorphism, no eye anomalies, no other abnormalities; 20m-walk; 18m-first words" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000016187" "00139" "00017833" "00006" "Isolated (sporadic)" "41y" "see paper; mild mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan performed, no facial dysmorphism, no eye anomalies, hypothyroidism" "" "" "" "" "" "" "" "" "" "" "" "" "0000037237" "00198" "00050625" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed cns myelination, neonatal hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000060561" "00807" "00080992" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 6 (OMIM:613970)" "" "" "" "" "" "" "" "" "" "" "" "" "0000060567" "00807" "00080998" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 6 (OMIM:613970)" "" "" "" "" "" "" "" "" "" "" "" "" "0000078839" "04282" "00039406" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000129747" "00198" "00164708" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Autistic behavior (HP:0000729)" "" "" "" "" "" "" "" "" "" "" "" "" "0000142613" "00198" "00180159" "00006" "Familial, autosomal dominant" "" "Microcephaly (HP:0000252), infantile spasms (HP:0012469), severe global developmental delay (HP:0011344), inability to walk (HP:0002540), (wide viscerocranium), bitemporal narrowing (HP:0000341), preauricular pit (on the right side) (HP:0004467), tapering fingers (HP:0001182), hypoplastic distal phalanges (HP:0009882)." "" "" "" "" "" "" "" "" "" "MRD-6" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000143804" "00139" "00183051" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000187153" "00198" "00248152" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Leukoencephalopathy (HP:0002352)" "" "" "" "" "" "" "" "" "" "" "" "" "0000199680" "05162" "00261174" "00006" "Isolated (sporadic)" "7y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000229854" "00139" "00302772" "00006" "Isolated (sporadic)" "21y" "severe intellectual disability; no speech; not walking; no epilepsy; no autistic features; acquired microcephaly; no macrocephaly; MRI brain minimal cerebellar vemis hypoplasia and left temporal atrophy; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230082" "05521" "00302999" "00006" "Isolated (sporadic)" "" "Epileptic encephalopathy, neonatal onset; age onset neonatal" "" "" "" "" "" "" "" "" "" "MRD6" "seizures" "" "0000235945" "05611" "00310674" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235946" "05611" "00310675" "00006" "Isolated (sporadic)" "" "see paper; ..., microcephaly, autism, dystonia, developmental delay" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235947" "05611" "00310676" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000235948" "05611" "00310677" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, autism spectrum disorder, focal seizures, generalised seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000235949" "05611" "00310678" "00006" "Isolated (sporadic)" "" "see paper; ..., autism spectrum disorder/intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000235950" "05611" "00310679" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay,\r\nintellectual disability, autism spectrum disorder, generalised seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000235951" "05611" "00310680" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, generalised seizures, microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235952" "05611" "00310681" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235953" "05611" "00310682" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000235954" "05611" "00310683" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability, focal seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235955" "05611" "00310684" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, focal seizures, generalised seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235956" "05611" "00310685" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, generalised seizures, dystonic movement disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235957" "05611" "00310686" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235958" "05611" "00310687" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235959" "05611" "00310688" "00006" "Isolated (sporadic)" "" "see paper; ..., lobal developmental delay, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235960" "05611" "00310689" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, generalised seizures, microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235961" "05611" "00310690" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, epileptic spasms, generalised seizures, microcephaly" "" "" "" "" "" "" "" "" "" "" "West syndrome" "" "0000235962" "05611" "00310691" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235963" "05611" "00310692" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, generalised cerebral volume loss, microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235964" "05611" "00310693" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, dystonic movement disorder" "" "" "" "" "" "" "" "" "" "" "Werner syndrome" "" "0000235965" "05611" "00310694" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000235966" "05611" "00310695" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, generalised seizures, developmental regression" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235967" "05611" "00310696" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235968" "05611" "00310697" "00006" "Isolated (sporadic)" "03y10m" "see paper; ..., mild intellectual disability; 25m-walking; 10m-first words; no seizures; EEG sharp wave complexes temporoparietal; MRI cranial normal; hyperactivity, short attention span, sleep disturbance, no aggressiveness, no stereotypies, friendliness" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235969" "05611" "00310698" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, focal seizures, malformation of cortical development, microcephaly, cortical visual impairment" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235970" "05611" "00310699" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, focal seizures, generalised seizures, malformation of cortical development, cortical visual impairment" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235971" "05611" "00310700" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, malformation of cortical development, microcephaly, cortical visual impairment" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235972" "05611" "00310701" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235973" "05611" "00310702" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, partial seizures, infantile spasms, myoclonus, tonic, 6m-startle" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235974" "05611" "00310703" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235975" "05611" "00310704" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235976" "05611" "00310705" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000235977" "05611" "00310706" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, focal seizures, generalised seizures, generalised cerebral volume loss, microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235978" "05611" "00310707" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, dyskinetic movement disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235979" "05611" "00310708" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235980" "05611" "00310709" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235981" "05611" "00310710" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, focal seizures, generalised seizures, malformation of cortical development" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235982" "05611" "00310711" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235983" "05611" "00310712" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235984" "05611" "00310713" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, autism spectrum disorder, generalised seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235985" "05611" "00310714" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, focal seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235986" "05611" "00310715" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235987" "05611" "00310716" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235988" "05611" "00310717" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235989" "05611" "00310718" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235990" "05611" "00310719" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235991" "05611" "00310720" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, focal seizures, malformation of cortical development, microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235992" "05611" "00310721" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, generalised seizures, malformation of cortical development" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235993" "05611" "00310722" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235994" "05611" "00310723" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay, epileptic spasms, focal seizures, generalised seizures, cortical visual impairment" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235995" "05611" "00310724" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235996" "05611" "00310725" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, epileptic spasms, dyskinetic movement disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235997" "05611" "00310726" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235998" "05611" "00310727" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, generalised cerebral volume loss" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000235999" "05611" "00310728" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236000" "05611" "00310729" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236001" "05611" "00310730" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236002" "05611" "00310731" "00006" "Isolated (sporadic)" "05y" "oligohydramnios, microcephaly (severe brachycephaly), chorea, stereotypic movements, Rett-like picture, profound intellectual disability (no regression), epileptic activity on EEG but no epilepsy, mild hypermetropia, deep seated eyes, strabismus, hyperactive deep tendon reflex, increased muscle tone" "00y02m" "" "" "" "" "" "" "" "" "MRD6" "" "" "0000236003" "05611" "00310732" "00006" "Isolated (sporadic)" "" "see paper; ..., autism spectrum disorder, intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000236004" "05611" "00310733" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236005" "05611" "00310734" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236006" "05611" "00310735" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236007" "05611" "00310736" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate\r\nintellectual disability, focal seizures, generalized seizures, signs of generalized volumes" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236121" "05611" "00310850" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder/intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000236122" "05611" "00310851" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, focal seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236123" "05611" "00310852" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability, developmental regression" "" "" "" "" "" "" "" "" "" "" "" "" "0000236124" "05611" "00310853" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder, focal seizures, generalised seizures, dystonic movement disorder, developmental regression" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236125" "05611" "00310854" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder/intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000236126" "05611" "00310855" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, focal seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236127" "05611" "00310856" "00006" "Isolated (sporadic)" "" "see paper; ..., autism spectrum disorder, intellectual disability" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000236128" "05611" "00310857" "00006" "Unknown" "" "see paper; ..., Mild intellectual disability, autism spectrum disorder, developmental regression" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000236129" "05611" "00310858" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236130" "05611" "00310859" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236131" "05611" "00310860" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236132" "05611" "00310861" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236133" "05611" "00310862" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236134" "05611" "00310863" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236135" "05611" "00310864" "00006" "Isolated (sporadic)" "" "see paper; ..., no intellectual disability, developmental delay" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236136" "05611" "00310865" "00006" "Isolated (sporadic)" "" "see paper; ..., mild intellectual disability, autism spectrum disorder, seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236137" "05611" "00310866" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236138" "05611" "00310867" "00006" "Isolated (sporadic)" "" "see paper; ..., moderate intellectual disability, autism spectrum disorder, no seizures" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000236236" "05611" "00310965" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236238" "05611" "00310967" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236239" "05611" "00310968" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236240" "05611" "00310969" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236244" "05611" "00310973" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236246" "05611" "00310975" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236247" "05611" "00310976" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236248" "05611" "00310977" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236249" "05611" "00310978" "00006" "Unknown" "" "see paper; ..., moderate developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236250" "05611" "00310979" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236251" "05611" "00310980" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236252" "05611" "00310981" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236254" "05611" "00310983" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236257" "05611" "00310986" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000236258" "05611" "00310987" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236259" "05611" "00310988" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236260" "05611" "00310989" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236265" "05611" "00310994" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236270" "05611" "00310999" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000236271" "05611" "00311000" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236272" "05611" "00311001" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236273" "05611" "00311002" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000236275" "05611" "00311004" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236276" "05611" "00311005" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236277" "05611" "00311006" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236278" "05611" "00311007" "00006" "Unknown" "" "see paper; ..., mild developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000236279" "05611" "00311008" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree" "" "" "" "" "" "" "" "" "" "" "" "" "0000269012" "00198" "00373725" "01864" "Familial, autosomal dominant" "" "HP:0000098; HP:0004324; HP:0000256; HP:0001249; HP:0002119; HP:0000238; HP:0100702; HP:0008749; HP:0001334; HP:0002540; HP:0500011; HP:0100790; HP:0002240" "" "" "" "" "" "" "" "" "" "DEE27" "" "" "0000310744" "00198" "00419463" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000310867" "00198" "00419586" "02300" "Isolated (sporadic)" "4y" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000321811" "05611" "00431202" "00006" "Isolated (sporadic)" "23m" "severe developmental delay; 4m-seizures, epileptic spasms, tonic; refractory seizures; spastic quadriplegia; no dysmorphism; OFC 44 cm (-3.2 SD); dysgyria bilateral diffuse; white matter reduced occipitally, colpocephaly, hypoplastic corpus callosum, enlarged basal ganglia" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321812" "05611" "00431203" "00006" "Isolated (sporadic)" "2y6m" "severe developmental delay; 2y3m-seizures,generalised tonic-clonic seizures with fever; no refractory seizures; spastic quadriplegia, truncal hypotonia and limb hypertonia, pseudobulbar palsy; no dysmorphism; OFC 44.8 cm (-2.2 SD); dysgyria bilateral diffuse (peri-Sylvian and parietal lobe most severly affected); reduced white matter, enlarged lateral ventricles, dysmorphic hippocampus" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321813" "05611" "00431204" "00006" "Isolated (sporadic)" "15m" "severe developmental delay; 70d-seizures iInfantile spasms, rapid and rolling eye movements; no refractory seizures; hypertonia; no dysmorphism; 10m-OFC 44 cm (9th centile), 2y6m-45 cm (-3.96 SD); dysgyria asymmetric (left > right); reduced white matter, enlarged left lateral ventricles, dysmorphic corpus callosum and basal ganglia" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321816" "05611" "00431212" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321817" "02012" "00310676" "00006" "Familial, autosomal recessive" "" "episodic fasting hypoglycemia, lactic acidemia" "" "" "" "" "" "" "" "" "" "PCKDC" "" "" "0000321820" "05611" "00431214" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "West syndrome" "" "0000321821" "05611" "00431215" "00006" "Isolated (sporadic)" "05y" "no microcephaly, moderate intellectual disability, no seizures; EEG left-sided sharp-wave complexes; behavioral anomalies; MRI normal; no facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321822" "05611" "00431216" "00006" "Isolated (sporadic)" "12y" "microcephaly, severe intellectual disability, no seizures; EEG irregular slow dysrhythmia, occipital abortive sharp waves; behavioral anomalies; MRI abnormalities; no facial dysmorphism; eye anomalies; choanal atresia, cryptorchidism, inguinal hernia, flat feet" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325357" "00807" "00435125" "01164" "Isolated (sporadic)" "12y" "Global developmental delay, Autistic behavior, Attention deficit hyperactivity disorder, Intellectual disability, Myopia, Scoliosis, Hemihypertrophy of lower limb, Decreased body weight" "" "" "" "" "" "" "" "" "" "" "" "" "0000327896" "04495" "00437992" "01164" "Isolated (sporadic)" "10y" "Intellectual disability, mild, Seizure, Atypical behavior, Abnormal aggressive, impulsive or violent behavior" "" "" "" "" "" "" "" "" "" "" "" "" "0000328318" "04270" "00438414" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001263 global developmental delay; HP:0008897 postnatal growth retardation" "8y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000346256" "00139" "00457807" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0001252" "" "" "" "" "" "" "" "" "" "MRD6" "neurodevelopmental disorder" "" "0000346433" "00139" "00457982" "03544" "Isolated (sporadic)" "" "HP:0010864" "" "" "" "" "" "" "" "" "" "MRD6" "intellectual disability" "" "0000351422" "05611" "00466038" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0002342, HP:0000750, HP:0001270, HP:0000252, HP:0000243, HP:0000356, HP:0000545" "" "" "" "" "" "" "" "" "" "MRD6" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 152 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017812" "00017830" "1" "00006" "00006" "2014-07-01 21:52:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000017813" "00017831" "1" "00006" "00006" "2014-07-01 22:10:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000017814" "00017832" "1" "00006" "00006" "2014-07-01 22:20:30" "" "" "SEQ" "DNA" "" "" "0000017815" "00017833" "1" "00006" "00006" "2014-07-01 22:27:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000024237" "00024243" "1" "00006" "00006" "2014-11-08 17:14:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000039647" "00039406" "1" "01158" "01158" "2015-06-15 15:27:29" "" "" "SEQ-NG" "DNA" "" "" "0000050570" "00050625" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081104" "00080992" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081110" "00080998" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117282" "00116814" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117376" "00116908" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117393" "00116925" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117396" "00116928" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117434" "00116966" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000165575" "00164708" "1" "01807" "01807" "2018-06-05 19:08:52" "" "" "SEQ" "DNA" "" "" "0000181062" "00180159" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184011" "00183051" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249257" "00248152" "1" "01807" "01807" "2019-07-19 11:44:58" "" "" "SEQ" "DNA" "" "" "0000262280" "00261174" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291815" "00290647" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291816" "00290648" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303898" "00302772" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304124" "00302999" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000305467" "00304338" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305468" "00304339" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308879" "00307739" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308880" "00307740" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000311826" "00310674" "1" "00006" "00006" "2020-09-13 12:38:57" "00006" "2023-02-02 09:39:30" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311827" "00310675" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311828" "00310676" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311829" "00310677" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311830" "00310678" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311831" "00310679" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311832" "00310680" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311833" "00310681" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311834" "00310682" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311835" "00310683" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311836" "00310684" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311837" "00310685" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311838" "00310686" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311839" "00310687" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311840" "00310688" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311841" "00310689" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311842" "00310690" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311843" "00310691" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311844" "00310692" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311845" "00310693" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311846" "00310694" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311847" "00310695" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311848" "00310696" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311849" "00310697" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311850" "00310698" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311851" "00310699" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311852" "00310700" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311853" "00310701" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311854" "00310702" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311855" "00310703" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311856" "00310704" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311857" "00310705" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311858" "00310706" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311859" "00310707" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311860" "00310708" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311861" "00310709" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311862" "00310710" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311863" "00310711" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311864" "00310712" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311865" "00310713" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311866" "00310714" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311867" "00310715" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311868" "00310716" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311869" "00310717" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311870" "00310718" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311871" "00310719" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311872" "00310720" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311873" "00310721" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311874" "00310722" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311875" "00310723" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311876" "00310724" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311877" "00310725" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311878" "00310726" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311879" "00310727" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311880" "00310728" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311881" "00310729" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311882" "00310730" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311883" "00310731" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311884" "00310732" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000311885" "00310733" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000311886" "00310734" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311887" "00310735" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000311888" "00310736" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312002" "00310850" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312003" "00310851" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312004" "00310852" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312005" "00310853" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312006" "00310854" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312007" "00310855" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312008" "00310856" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312009" "00310857" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312010" "00310858" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312011" "00310859" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312012" "00310860" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312013" "00310861" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312014" "00310862" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312015" "00310863" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312016" "00310864" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312017" "00310865" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312018" "00310866" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312019" "00310867" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312020" "00310868" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312117" "00310965" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312119" "00310967" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single) 2017" "0000312120" "00310968" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312121" "00310969" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312125" "00310973" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel 2017" "0000312127" "00310975" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312128" "00310976" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312129" "00310977" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312130" "00310978" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312131" "00310979" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312132" "00310980" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312133" "00310981" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312135" "00310983" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312138" "00310986" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312139" "00310987" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312140" "00310988" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312141" "00310989" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312146" "00310994" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312151" "00310999" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312152" "00311000" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "2017" "0000312153" "00311001" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312154" "00311002" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312156" "00311004" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312157" "00311005" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312158" "00311006" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312159" "00311007" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312160" "00311008" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000374958" "00373725" "1" "01864" "01864" "2021-05-19 08:42:41" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000420767" "00419463" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420890" "00419586" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432616" "00431202" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "blood" "gene panel" "0000432617" "00431203" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000432618" "00431204" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "saliva" "WES" "0000432626" "00431212" "1" "00006" "00006" "2023-02-03 10:28:56" "" "" "SEQ" "DNA" "" "" "0000432628" "00431214" "1" "00006" "00006" "2023-02-03 11:23:40" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000432629" "00431215" "1" "00006" "00006" "2023-02-03 14:12:25" "" "" "FISH;microscope" "DNA" "" "" "0000432630" "00431216" "1" "00006" "00006" "2023-02-03 14:24:18" "" "" "FISH;microscope" "DNA" "" "" "0000436598" "00435125" "1" "01164" "01164" "2023-05-17 16:13:15" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439473" "00437992" "1" "01164" "01164" "2023-10-19 16:47:16" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439896" "00438414" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459427" "00457807" "1" "03544" "03544" "2024-11-19 14:42:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459603" "00457982" "1" "03544" "03544" "2024-11-24 10:30:17" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467689" "00466038" "1" "03544" "03544" "2025-07-12 10:04:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 128 "{{screeningid}}" "{{geneid}}" "0000017812" "GRIN2B" "0000017813" "GRIN2B" "0000017814" "GRIN2B" "0000017815" "GRIN2B" "0000024237" "GRIN2B" "0000050570" "GRIN2B" "0000081104" "GRIN2B" "0000081110" "GRIN2B" "0000181062" "GRIN2B" "0000262280" "DLL1" "0000303898" "GRIN2B" "0000304124" "GRIN2B" "0000308879" "GRIN2B" "0000308880" "GRIN2B" "0000311826" "GRIN2B" "0000311827" "GRIN2B" "0000311828" "GRIN2B" "0000311829" "GRIN2B" "0000311830" "GRIN2B" "0000311831" "GRIN2B" "0000311832" "GRIN2B" "0000311833" "GRIN2B" "0000311834" "GRIN2B" "0000311835" "GRIN2B" "0000311836" "GRIN2B" "0000311837" "GRIN2B" "0000311838" "GRIN2B" "0000311839" "GRIN2B" "0000311840" "GRIN2B" "0000311841" "GRIN2B" "0000311842" "GRIN2B" "0000311843" "GRIN2B" "0000311844" "GRIN2B" "0000311845" "GRIN2B" "0000311846" "GRIN2B" "0000311847" "GRIN2B" "0000311848" "GRIN2B" "0000311849" "GRIN2B" "0000311850" "GRIN2B" "0000311851" "GRIN2B" "0000311852" "GRIN2B" "0000311853" "GRIN2B" "0000311854" "GRIN2B" "0000311855" "GRIN2B" "0000311856" "GRIN2B" "0000311857" "GRIN2B" "0000311858" "GRIN2B" "0000311859" "GRIN2B" "0000311860" "GRIN2B" "0000311861" "GRIN2B" "0000311862" "GRIN2B" "0000311863" "GRIN2B" "0000311864" "GRIN2B" "0000311865" "GRIN2B" "0000311866" "GRIN2B" "0000311867" "GRIN2B" "0000311868" "GRIN2B" "0000311869" "GRIN2B" "0000311870" "GRIN2B" "0000311871" "GRIN2B" "0000311872" "GRIN2B" "0000311873" "GRIN2B" "0000311874" "GRIN2B" "0000311875" "GRIN2B" "0000311876" "GRIN2B" "0000311877" "GRIN2B" "0000311878" "GRIN2B" "0000311879" "GRIN2B" "0000311880" "GRIN2B" "0000311881" "GRIN2B" "0000311882" "GRIN2B" "0000311883" "GRIN2B" "0000311884" "GRIN2B" "0000311885" "GRIN2B" "0000311886" "GRIN2B" "0000311887" "GRIN2B" "0000311888" "GRIN2B" "0000312002" "GRIN2B" "0000312003" "GRIN2B" "0000312004" "GRIN2B" "0000312005" "GRIN2B" "0000312006" "GRIN2B" "0000312007" "GRIN2B" "0000312008" "GRIN2B" "0000312009" "GRIN2B" "0000312010" "GRIN2B" "0000312011" "GRIN2B" "0000312012" "GRIN2B" "0000312013" "GRIN2B" "0000312014" "GRIN2B" "0000312015" "GRIN2B" "0000312016" "GRIN2B" "0000312017" "GRIN2B" "0000312018" "GRIN2B" "0000312019" "GRIN2B" "0000312020" "GRIN2B" "0000312117" "GRIN2B" "0000312119" "GRIN2B" "0000312120" "GRIN2B" "0000312121" "GRIN2B" "0000312125" "GRIN2B" "0000312127" "GRIN2B" "0000312128" "GRIN2B" "0000312129" "GRIN2B" "0000312130" "GRIN2B" "0000312131" "GRIN2B" "0000312132" "GRIN2B" "0000312133" "GRIN2B" "0000312135" "GRIN2B" "0000312138" "GRIN2B" "0000312139" "GRIN2B" "0000312140" "GRIN2B" "0000312141" "GRIN2B" "0000312146" "GRIN2B" "0000312151" "GRIN2B" "0000312152" "GRIN2B" "0000312153" "GRIN2B" "0000312154" "GRIN2B" "0000312156" "GRIN2B" "0000312157" "GRIN2B" "0000312158" "GRIN2B" "0000312159" "GRIN2B" "0000312160" "GRIN2B" "0000374958" "GRIN2B" "0000432629" "GRIN2B" "0000432630" "GRIN2B" "0000436598" "GRIN2B" "0000439473" "GRIN2B" ## 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 = 328 "{{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}}" "0000037980" "1" "90" "12" "14018731" "14018731" "subst" "0" "00006" "GRIN2B_000001" "g.14018731C>T" "1/630 cases" "{PMID:Endele 2010:20890276}, {OMIM138252:0001}" "" "" "no expression detected in RNA; variant not in 360 control chromosomes" "De novo" "yes" "" "0" "" "" "g.13865797C>T" "" "pathogenic" "" "0000037981" "2" "10" "12" "14018777" "14018777" "subst" "0.407676" "00006" "GRIN2B_000002" "g.14018777G>C" "" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "rs7301328" "0" "" "" "g.13865843G>C" "" "benign" "" "0000037982" "1" "90" "12" "13906460" "13906461" "del" "0" "00006" "GRIN2B_000003" "g.13906460_13906461del" "1/306 cases" "{PMID:Endele 2010:20890276}, {OMIM138252:0002}" "" "803_804delCA" "not in 360 control chromosomes" "De novo" "yes" "" "0" "" "" "g.13753526_13753527del" "" "pathogenic (dominant)" "" "0000037983" "1" "70" "12" "13724865" "13724865" "subst" "0" "00006" "GRIN2B_000004" "g.13724865G>A" "1/630 cases" "{PMID:Endele 2010:20890276}, {OMIM138252:0003}" "" "" "not in 1080 control chromosomes" "De novo" "yes" "" "0" "" "" "g.13571931G>A" "" "likely pathogenic (dominant)" "" "0000037984" "1" "90" "12" "13720199" "13720199" "subst" "0" "00006" "GRIN2B_000005" "g.13720199T>C" "1/306 cases" "{PMID:Endele 2010:20890276}, {OMIM138252:0004}" "" "" "not in 360 control chromosomes; no RNA expression" "De novo" "yes" "" "0" "" "" "g.13567265T>C" "" "pathogenic (dominant)" "" "0000037985" "2" "10" "12" "14018777" "14018777" "subst" "0.407676" "00006" "GRIN2B_000002" "g.14018777G>C" "" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "rs7301328" "0" "" "" "g.13865843G>C" "" "benign" "" "0000037986" "21" "30" "12" "14019026" "14019026" "subst" "0" "00006" "GRIN2B_000006" "g.14019026G>A" "1/306 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13866092G>A" "" "likely benign" "" "0000037987" "21" "30" "12" "14018954" "14018954" "subst" "2.84923E-5" "00006" "GRIN2B_000007" "g.14018954G>A" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13866020G>A" "" "likely benign" "" "0000037988" "1" "30" "12" "14018915" "14018915" "subst" "0.000793418" "00006" "GRIN2B_000008" "g.14018915G>A" "2/936 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13865981G>A" "" "likely benign" "" "0000037989" "1" "30" "12" "13769603" "13769603" "subst" "0.0120242" "00006" "GRIN2B_000009" "g.13769603T>C" "2/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13616669T>C" "" "likely benign" "" "0000037990" "21" "30" "12" "13768142" "13768142" "subst" "4.46864E-5" "00006" "GRIN2B_000010" "g.13768142C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13615208C>T" "" "likely benign" "" "0000037991" "1" "30" "12" "13764671" "13764671" "subst" "0.000113737" "00006" "GRIN2B_000011" "g.13764671C>T" "2/936 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13611737C>T" "" "likely benign" "" "0000037992" "0" "30" "12" "13764650" "13764650" "subst" "0.000312774" "00006" "GRIN2B_000012" "g.13764650C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.13611716C>T" "" "likely benign" "" "0000037993" "21" "30" "12" "13717602" "13717602" "subst" "0.000290418" "00006" "GRIN2B_000013" "g.13717602A>G" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13564668A>G" "" "likely benign" "" "0000037994" "0" "03" "12" "13717544" "13717544" "subst" "0.00107427" "00006" "GRIN2B_000014" "g.13717544C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.13564610C>T" "" "" "" "0000037995" "3" "30" "12" "13716620" "13716620" "subst" "0.00212321" "00006" "GRIN2B_000015" "g.13716620G>A" "1/306 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13563686G>A" "" "likely benign" "" "0000037996" "1" "30" "12" "13716620" "13716620" "subst" "0.00212321" "00006" "GRIN2B_000015" "g.13716620G>A" "2/306 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13563686G>A" "" "likely benign" "" "0000037997" "11" "30" "12" "13716373" "13716373" "subst" "0.00024372" "00006" "GRIN2B_000016" "g.13716373C>A" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13563439C>A" "" "likely benign" "" "0000037998" "1" "30" "12" "13716179" "13716179" "subst" "4.87444E-5" "00006" "GRIN2B_000017" "g.13716179C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Unknown" "?" "" "0" "" "" "g.13563245C>T" "" "likely benign" "" "0000037999" "11" "30" "12" "13715647" "13715647" "subst" "0" "00006" "GRIN2B_000018" "g.13715647C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13562713C>T" "" "likely benign" "" "0000038000" "21" "30" "12" "13715329" "13715329" "subst" "0" "00006" "GRIN2B_000019" "g.13715329G>A" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13562395G>A" "" "likely benign" "" "0000038001" "21" "30" "12" "13715106" "13715106" "subst" "0" "00006" "GRIN2B_000020" "g.13715106A>G" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "" "" "Germline" "no" "" "0" "" "" "g.13562172A>G" "" "likely benign" "" "0000038002" "0" "30" "12" "13828688" "13828688" "subst" "0" "00006" "GRIN2B_000021" "g.13828688C>T" "1/630 cases" "{PMID:Endele 2010:20890276}" "" "1116A>G" "variant reported erroneously or reference sequence is rare allele" "Unknown" "?" "" "0" "" "" "g.13675754C>T" "" "likely benign" "" "0000046795" "0" "50" "12" "13716876" "13716877" "del" "0" "00006" "GRIN2B_000022" "g.13716876_13716877del" "" "{PMID:Gilissen 2014:24896178}" "" "13716876CG>N (Arg1099fs)" "" "De novo" "" "" "0" "" "" "g.13563942_13563943del" "" "VUS" "" "0000067270" "0" "70" "12" "13724844" "13724844" "subst" "0" "01158" "GRIN2B_000023" "g.13724844C>T" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "De novo" "-" "" "0" "" "" "g.13571910C>T" "" "likely pathogenic" "" "0000079550" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.13567164C>G" "" "pathogenic" "" "0000130190" "0" "70" "12" "13906524" "13906524" "subst" "0" "01758" "GRIN2B_000026" "g.13906524G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.13753590G>T" "" "likely pathogenic" "ACMG" "0000130196" "0" "70" "12" "13722871" "13722871" "subst" "0" "01758" "GRIN2B_000025" "g.13722871A>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.13569937A>G" "" "likely pathogenic" "ACMG" "0000188127" "0" "50" "12" "13768578" "13768578" "subst" "0" "02192" "GRIN2B_000029" "g.13768578G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201566587" "0" "" "" "g.13615644G>A" "" "VUS" "" "0000188221" "0" "50" "12" "14019003" "14019003" "subst" "6.11053E-5" "02192" "GRIN2B_000030" "g.14019003T>C" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs199526748" "0" "" "" "g.13866069T>C" "" "VUS" "" "0000188238" "0" "50" "12" "13716759" "13716759" "subst" "0.000256127" "02192" "GRIN2B_000027" "g.13716759C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs187979330" "0" "" "" "g.13563825C>T" "" "VUS" "" "0000188241" "0" "50" "12" "13717035" "13717035" "subst" "4.06134E-6" "02192" "GRIN2B_000028" "g.13717035C>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201029083" "0" "" "" "g.13564101C>A" "" "VUS" "" "0000188279" "0" "50" "12" "14019003" "14019003" "subst" "6.11053E-5" "02192" "GRIN2B_000030" "g.14019003T>C" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs199526748" "0" "" "" "g.13866069T>C" "" "VUS" "" "0000249822" "0" "50" "12" "13761568" "13761568" "subst" "0" "02325" "GRIN2B_000049" "g.13761568A>G" "" "" "" "GRIN2B(NM_000834.5):c.1979T>C (p.V660A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608634A>G" "" "VUS" "" "0000250823" "0" "90" "12" "13722871" "13722871" "subst" "0" "02326" "GRIN2B_000025" "g.13722871A>G" "" "" "" "GRIN2B(NM_000834.4):c.2252T>C (p.I751T), GRIN2B(NM_000834.5):c.2252T>C (p.I751T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13569937A>G" "" "pathogenic" "" "0000251498" "0" "10" "12" "13725095" "13725095" "subst" "0" "02326" "GRIN2B_000048" "g.13725095A>G" "" "" "" "GRIN2B(NM_000834.4):c.2011-197T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13572161A>G" "" "benign" "" "0000251499" "0" "10" "12" "13761832" "13761832" "del" "0" "02326" "GRIN2B_000080" "g.13761832del" "" "" "" "GRIN2B(NM_000834.4):c.1781-64delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608898del" "" "benign" "" "0000255345" "0" "70" "12" "13722871" "13722871" "subst" "0" "01943" "GRIN2B_000025" "g.13722871A>G" "" "" "" "GRIN2B(NM_000834.4):c.2252T>C (p.I751T), GRIN2B(NM_000834.5):c.2252T>C (p.I751T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13569937A>G" "" "likely pathogenic" "" "0000281157" "0" "10" "12" "13828659" "13828659" "subst" "0.157935" "02325" "GRIN2B_000062" "g.13828659T>C" "" "" "" "GRIN2B(NM_000834.5):c.1125+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13675725T>C" "" "benign" "" "0000281158" "0" "10" "12" "13764774" "13764774" "subst" "0.27154" "02325" "GRIN2B_000056" "g.13764774G>A" "" "" "" "GRIN2B(NM_000834.4):c.1665C>T (p.S555=), GRIN2B(NM_000834.5):c.1665C>T (p.S555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611840G>A" "" "benign" "" "0000281159" "0" "30" "12" "13761696" "13761696" "subst" "0.000645774" "02325" "GRIN2B_000051" "g.13761696G>A" "" "" "" "GRIN2B(NM_000834.4):c.1851C>T (p.S617=), GRIN2B(NM_000834.5):c.1851C>T (p.(Ser617=), p.S617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608762G>A" "" "likely benign" "" "0000281160" "0" "30" "12" "14018915" "14018915" "subst" "0.000793418" "02325" "GRIN2B_000008" "g.14018915G>A" "" "" "" "GRIN2B(NM_000834.4):c.228C>T (p.T76=), GRIN2B(NM_000834.5):c.228C>T (p.T76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865981G>A" "" "likely benign" "" "0000281161" "0" "30" "12" "13720079" "13720079" "subst" "0" "02325" "GRIN2B_000044" "g.13720079C>T" "" "" "" "GRIN2B(NM_000834.5):c.2478G>A (p.G826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567145C>T" "" "likely benign" "" "0000281162" "0" "30" "12" "13720076" "13720076" "subst" "0.000154308" "02325" "GRIN2B_000043" "g.13720076C>T" "" "" "" "GRIN2B(NM_000834.4):c.2481G>A (p.A827=), GRIN2B(NM_000834.5):c.2481G>A (p.A827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567142C>T" "" "likely benign" "" "0000281163" "0" "10" "12" "13717508" "13717508" "subst" "0.316603" "02325" "GRIN2B_000040" "g.13717508G>A" "" "" "" "GRIN2B(NM_000834.5):c.2664C>T (p.T888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13564574G>A" "" "benign" "" "0000281164" "0" "30" "12" "13716887" "13716887" "subst" "2.03153E-5" "02325" "GRIN2B_000039" "g.13716887C>T" "" "" "" "GRIN2B(NM_000834.5):c.3285G>A (p.S1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563953C>T" "" "likely benign" "" "0000281165" "0" "30" "12" "13716674" "13716674" "subst" "0.00611352" "02325" "GRIN2B_000038" "g.13716674G>A" "" "" "" "GRIN2B(NM_000834.4):c.3498C>T (p.S1166=), GRIN2B(NM_000834.5):c.3498C>T (p.S1166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563740G>A" "" "likely benign" "" "0000281166" "0" "10" "12" "13716638" "13716638" "subst" "0.399893" "02325" "GRIN2B_000037" "g.13716638G>A" "" "" "" "GRIN2B(NM_000834.5):c.3534C>T (p.H1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563704G>A" "" "benign" "" "0000281167" "0" "10" "12" "14018777" "14018777" "subst" "0.407676" "02325" "GRIN2B_000002" "g.14018777G>C" "" "" "" "GRIN2B(NM_000834.5):c.366C>G (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865843G>C" "" "benign" "" "0000281168" "0" "50" "12" "13716214" "13716214" "subst" "0" "02325" "GRIN2B_000034" "g.13716214G>A" "" "" "" "GRIN2B(NM_000834.5):c.3958C>T (p.R1320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563280G>A" "" "VUS" "" "0000281169" "0" "50" "12" "13906509" "13906509" "subst" "0" "02325" "GRIN2B_000064" "g.13906509C>T" "" "" "" "GRIN2B(NM_000834.5):c.752G>A (p.G251D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753575C>T" "" "VUS" "" "0000283385" "0" "90" "12" "13768147" "13768147" "subst" "0" "02329" "GRIN2B_000060" "g.13768147G>A" "" "" "" "GRIN2B(NM_000834.5):c.1555C>T (p.R519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13615213G>A" "" "pathogenic" "" "0000283386" "0" "70" "12" "13768104" "13768104" "subst" "0" "02329" "GRIN2B_000059" "g.13768104C>A" "" "" "" "GRIN2B(NM_000834.5):c.1598G>T (p.G533V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13615170C>A" "" "likely pathogenic" "" "0000283387" "0" "90" "12" "13724865" "13724865" "subst" "0" "02329" "GRIN2B_000004" "g.13724865G>A" "" "" "" "GRIN2B(NM_000834.5):c.2044C>T (p.R682C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13571931G>A" "" "pathogenic" "" "0000285007" "0" "10" "12" "13769603" "13769603" "subst" "0.0120242" "02326" "GRIN2B_000009" "g.13769603T>C" "" "" "" "GRIN2B(NM_000834.4):c.1126-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13616669T>C" "" "benign" "" "0000285008" "0" "10" "12" "13768738" "13768738" "subst" "0" "02326" "GRIN2B_000061" "g.13768738C>T" "" "" "" "GRIN2B(NM_000834.4):c.1329-140G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13615804C>T" "" "benign" "" "0000285009" "0" "10" "12" "14019128" "14019128" "subst" "0.0490913" "02326" "GRIN2B_000066" "g.14019128C>T" "" "" "" "GRIN2B(NM_000834.4):c.15G>A (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13866194C>T" "" "benign" "" "0000285010" "0" "10" "12" "13764855" "13764855" "subst" "0" "02326" "GRIN2B_000058" "g.13764855T>G" "" "" "" "GRIN2B(NM_000834.4):c.1655-71A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611921T>G" "" "benign" "" "0000285011" "0" "10" "12" "13764774" "13764774" "subst" "0.27154" "02326" "GRIN2B_000056" "g.13764774G>A" "" "" "" "GRIN2B(NM_000834.4):c.1665C>T (p.S555=), GRIN2B(NM_000834.5):c.1665C>T (p.S555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611840G>A" "" "benign" "" "0000285012" "0" "30" "12" "13764671" "13764671" "subst" "0.000113737" "02326" "GRIN2B_000011" "g.13764671C>T" "" "" "" "GRIN2B(NM_000834.4):c.1768G>A (p.A590T), GRIN2B(NM_000834.5):c.1768G>A (p.A590T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611737C>T" "" "likely benign" "" "0000285013" "0" "10" "12" "13761898" "13761898" "subst" "0" "02326" "GRIN2B_000052" "g.13761898G>A" "" "" "" "GRIN2B(NM_000834.4):c.1781-132C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608964G>A" "" "benign" "" "0000285014" "0" "10" "12" "13761927" "13761928" "del" "0" "02326" "GRIN2B_000053" "g.13761927_13761928del" "" "" "" "GRIN2B(NM_000834.4):c.1781-157_1781-156delGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608993_13608994del" "" "benign" "" "0000285015" "0" "70" "12" "13761631" "13761631" "subst" "0" "02326" "GRIN2B_000050" "g.13761631G>A" "" "" "" "GRIN2B(NM_000834.4):c.1916C>T (p.A639V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608697G>A" "" "likely pathogenic" "" "0000285016" "0" "90" "12" "13724844" "13724844" "subst" "0" "02326" "GRIN2B_000023" "g.13724844C>T" "" "" "" "GRIN2B(NM_000834.4):c.2065G>A (p.G689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13571910C>T" "" "pathogenic" "" "0000285017" "0" "70" "12" "13720170" "13720170" "subst" "0" "02326" "GRIN2B_000045" "g.13720170C>A" "" "" "" "GRIN2B(NM_000834.4):c.2387G>T (p.W796L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567236C>A" "" "likely pathogenic" "" "0000285018" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "02326" "GRIN2B_000024" "g.13720098C>G" "" "" "" "GRIN2B(NM_000834.4):c.2459G>C (p.G820A), GRIN2B(NM_000834.5):c.2459G>C (p.G820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567164C>G" "" "pathogenic" "" "0000285019" "0" "90" "12" "13720018" "13720018" "subst" "0" "02326" "GRIN2B_000041" "g.13720018G>A" "" "" "" "GRIN2B(NM_000834.3):c.2539C>T (p.(Arg847Ter)), GRIN2B(NM_000834.4):c.2539C>T (p.R847*), GRIN2B(NM_000834.5):c.2539C>T (p.R847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic" "" "0000285020" "0" "10" "12" "13716674" "13716674" "subst" "0.00611352" "02326" "GRIN2B_000038" "g.13716674G>A" "" "" "" "GRIN2B(NM_000834.4):c.3498C>T (p.S1166=), GRIN2B(NM_000834.5):c.3498C>T (p.S1166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563740G>A" "" "benign" "" "0000285021" "0" "30" "12" "13716365" "13716365" "subst" "0.000507651" "02326" "GRIN2B_000035" "g.13716365T>A" "" "" "" "GRIN2B(NM_000834.4):c.3807A>T (p.P1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563431T>A" "" "likely benign" "" "0000285022" "0" "10" "12" "13715954" "13715954" "subst" "0.0366669" "02326" "GRIN2B_000033" "g.13715954G>A" "" "" "" "GRIN2B(NM_000834.4):c.4218C>T (p.F1406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563020G>A" "" "benign" "" "0000288778" "0" "10" "12" "14019170" "14019170" "subst" "0.000604148" "01943" "GRIN2B_000067" "g.14019170C>G" "" "" "" "GRIN2B(NM_000834.4):c.-18-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13866236C>G" "" "benign" "" "0000288779" "0" "30" "12" "13761696" "13761696" "subst" "0.000645774" "01943" "GRIN2B_000051" "g.13761696G>A" "" "" "" "GRIN2B(NM_000834.4):c.1851C>T (p.S617=), GRIN2B(NM_000834.5):c.1851C>T (p.(Ser617=), p.S617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608762G>A" "" "likely benign" "" "0000288780" "0" "90" "12" "13724793" "13724793" "subst" "0" "01943" "GRIN2B_000047" "g.13724793T>C" "" "" "" "GRIN2B(NM_000834.3):c.2116A>G (p.(Met706Val)), GRIN2B(NM_000834.4):c.2116A>G (p.M706V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13571859T>C" "" "pathogenic" "" "0000288781" "0" "30" "12" "13722957" "13722957" "subst" "3.26384E-5" "01943" "GRIN2B_000046" "g.13722957C>T" "" "" "" "GRIN2B(NM_000834.4):c.2172-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13570023C>T" "" "likely benign" "" "0000288782" "0" "30" "12" "14018915" "14018915" "subst" "0.000793418" "01943" "GRIN2B_000008" "g.14018915G>A" "" "" "" "GRIN2B(NM_000834.4):c.228C>T (p.T76=), GRIN2B(NM_000834.5):c.228C>T (p.T76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865981G>A" "" "likely benign" "" "0000288783" "0" "30" "12" "13716373" "13716373" "subst" "0.00024372" "01943" "GRIN2B_000016" "g.13716373C>A" "" "" "" "GRIN2B(NM_000834.4):c.3799G>T (p.A1267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563439C>A" "" "likely benign" "" "0000288784" "0" "30" "12" "13715861" "13715861" "subst" "3.6547E-5" "01943" "GRIN2B_000031" "g.13715861G>A" "" "" "" "GRIN2B(NM_000834.4):c.4311C>T (p.A1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13562927G>A" "" "likely benign" "" "0000288785" "0" "90" "12" "13906670" "13906670" "subst" "0" "01943" "GRIN2B_000065" "g.13906670C>T" "" "" "" "GRIN2B(NM_000834.4):c.591G>A (p.W197*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753736C>T" "" "pathogenic" "" "0000322684" "0" "50" "12" "13715899" "13715899" "subst" "0" "01804" "GRIN2B_000032" "g.13715899C>T" "" "" "" "GRIN2B(NM_000834.3):c.4273G>A (p.(Val1425Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13562965C>T" "" "VUS" "" "0000322685" "0" "50" "12" "13716480" "13716480" "subst" "0" "01804" "GRIN2B_000036" "g.13716480C>T" "" "" "" "GRIN2B(NM_000834.3):c.3692G>A (p.(Gly1231Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563546C>T" "" "VUS" "" "0000322686" "0" "50" "12" "13720018" "13720018" "subst" "0" "01804" "GRIN2B_000041" "g.13720018G>A" "" "" "" "GRIN2B(NM_000834.3):c.2539C>T (p.(Arg847Ter)), GRIN2B(NM_000834.4):c.2539C>T (p.R847*), GRIN2B(NM_000834.5):c.2539C>T (p.R847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567084G>A" "" "VUS" "" "0000322688" "0" "50" "12" "13764663" "13764663" "del" "0" "01804" "GRIN2B_000054" "g.13764663del" "" "" "" "GRIN2B(NM_000834.3):c.1776del (p.(Arg593GlufsTer58))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611729del" "" "VUS" "" "0000322689" "0" "70" "12" "13764684" "13764684" "del" "0" "01804" "GRIN2B_000055" "g.13764684del" "" "" "" "GRIN2B(NM_000834.3):c.1755del (p.(Tyr585Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611750del" "" "likely pathogenic" "" "0000322690" "0" "50" "12" "13764779" "13764779" "subst" "0" "01804" "GRIN2B_000057" "g.13764779A>T" "" "" "" "GRIN2B(NM_000834.3):c.1660T>A (p.(Phe554Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611845A>T" "" "VUS" "" "0000337194" "0" "10" "12" "13906757" "13906757" "subst" "0.00420838" "02327" "GRIN2B_000076" "g.13906757G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753823G>T" "" "benign" "" "0000339104" "0" "70" "12" "13768074" "13768074" "subst" "0" "02327" "GRIN2B_000075" "g.13768074C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13615140C>G" "" "likely pathogenic" "" "0000341029" "0" "10" "12" "13717508" "13717508" "subst" "0.316603" "02327" "GRIN2B_000040" "g.13717508G>A" "" "" "" "GRIN2B(NM_000834.5):c.2664C>T (p.T888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13564574G>A" "" "benign" "" "0000341539" "0" "50" "12" "13761592" "13761592" "subst" "0" "02327" "GRIN2B_000074" "g.13761592G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608658G>T" "" "VUS" "" "0000343420" "0" "90" "12" "13720018" "13720018" "subst" "0" "02327" "GRIN2B_000041" "g.13720018G>A" "" "" "" "GRIN2B(NM_000834.3):c.2539C>T (p.(Arg847Ter)), GRIN2B(NM_000834.4):c.2539C>T (p.R847*), GRIN2B(NM_000834.5):c.2539C>T (p.R847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic" "" "0000344460" "0" "30" "12" "14019123" "14019123" "subst" "4.18473E-6" "02327" "GRIN2B_000078" "g.14019123C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13866189C>T" "" "likely benign" "" "0000345682" "0" "50" "12" "14018761" "14018761" "subst" "0" "02327" "GRIN2B_000077" "g.14018761C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865827C>T" "" "VUS" "" "0000346284" "0" "90" "12" "13720098" "13720098" "subst" "0" "02327" "GRIN2B_000070" "g.13720098C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567164C>T" "" "pathogenic" "" "0000347889" "0" "70" "12" "13724793" "13724793" "subst" "0" "02327" "GRIN2B_000047" "g.13724793T>C" "" "" "" "GRIN2B(NM_000834.3):c.2116A>G (p.(Met706Val)), GRIN2B(NM_000834.4):c.2116A>G (p.M706V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13571859T>C" "" "likely pathogenic" "" "0000349158" "0" "70" "12" "13722865" "13722865" "subst" "0" "02327" "GRIN2B_000071" "g.13722865C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13569931C>T" "" "likely pathogenic" "" "0000349621" "0" "70" "12" "13722874" "13722874" "subst" "0" "02327" "GRIN2B_000072" "g.13722874G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13569940G>A" "" "likely pathogenic" "" "0000350167" "0" "90" "12" "13761570" "13761570" "subst" "0" "02327" "GRIN2B_000073" "g.13761570A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13608636A>T" "" "pathogenic" "" "0000350900" "0" "10" "12" "13715975" "13715975" "subst" "0.128942" "02327" "GRIN2B_000068" "g.13715975A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563041A>G" "" "benign" "" "0000350901" "0" "10" "12" "13716638" "13716638" "subst" "0.399893" "02327" "GRIN2B_000037" "g.13716638G>A" "" "" "" "GRIN2B(NM_000834.5):c.3534C>T (p.H1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13563704G>A" "" "benign" "" "0000350902" "0" "10" "12" "13720043" "13720043" "subst" "0.0862111" "02327" "GRIN2B_000069" "g.13720043G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13567109G>A" "" "benign" "" "0000350904" "0" "10" "12" "13764774" "13764774" "subst" "0.27154" "02327" "GRIN2B_000056" "g.13764774G>A" "" "" "" "GRIN2B(NM_000834.4):c.1665C>T (p.S555=), GRIN2B(NM_000834.5):c.1665C>T (p.S555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13611840G>A" "" "benign" "" "0000350910" "0" "10" "12" "14018777" "14018777" "subst" "0.407676" "02327" "GRIN2B_000002" "g.14018777G>C" "" "" "" "GRIN2B(NM_000834.5):c.366C>G (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13865843G>C" "" "benign" "" "0000350911" "0" "10" "12" "14019157" "14019157" "subst" "0.0775869" "02327" "GRIN2B_000079" "g.14019157C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13866223C>T" "" "benign" "" "0000369300" "0" "70" "12" "13720080" "13720080" "subst" "0" "01807" "GRIN2B_000081" "g.13720080C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13567146C>T" "" "likely pathogenic" "" "0000404698" "0" "90" "12" "13720162" "13720162" "subst" "0" "00006" "GRIN2B_000082" "g.13720162C>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.13567228C>T" "" "pathogenic" "ACMG" "0000407949" "0" "90" "12" "13764781" "13764781" "subst" "0" "00006" "GRIN2B_000083" "g.13764781G>A" "" "{PMID:de Ligt 2012:23033978}" "" "" "" "De novo" "" "" "0" "" "" "g.13611847G>A" "" "pathogenic (dominant)" "" "0000547268" "0" "50" "12" "13715794" "13715794" "del" "0" "01804" "GRIN2B_000084" "g.13715794del" "" "" "" "GRIN2B(NM_000834.3):c.4382del (p.(Asn1461ThrfsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13562860del" "" "VUS" "" "0000547270" "0" "70" "12" "13717396" "13717396" "subst" "0" "02327" "GRIN2B_000086" "g.13717396G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13564462G>A" "" "likely pathogenic" "" "0000547271" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "02327" "GRIN2B_000024" "g.13720098C>G" "" "" "" "GRIN2B(NM_000834.4):c.2459G>C (p.G820A), GRIN2B(NM_000834.5):c.2459G>C (p.G820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13567164C>G" "" "pathogenic" "" "0000547272" "0" "50" "12" "13720119" "13720119" "subst" "0" "01943" "GRIN2B_000088" "g.13720119A>G" "" "" "" "GRIN2B(NM_000834.4):c.2438T>C (p.L813P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13567185A>G" "" "VUS" "" "0000547273" "0" "30" "12" "13722951" "13722951" "subst" "0" "01804" "GRIN2B_000089" "g.13722951C>A" "" "" "" "GRIN2B(NM_000834.3):c.2172G>T (p.(=)), GRIN2B(NM_000834.4):c.2172G>T (p.G724=), GRIN2B(NM_000834.5):c.2172G>T (p.G724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13570017C>A" "" "likely benign" "" "0000547274" "0" "30" "12" "13722951" "13722951" "subst" "0" "02325" "GRIN2B_000089" "g.13722951C>A" "" "" "" "GRIN2B(NM_000834.3):c.2172G>T (p.(=)), GRIN2B(NM_000834.4):c.2172G>T (p.G724=), GRIN2B(NM_000834.5):c.2172G>T (p.G724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13570017C>A" "" "likely benign" "" "0000547275" "0" "90" "12" "13724737" "13724737" "subst" "0" "02327" "GRIN2B_000090" "g.13724737C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13571803C>T" "" "pathogenic" "" "0000547276" "0" "50" "12" "13724783" "13724783" "subst" "0" "01943" "GRIN2B_000091" "g.13724783A>G" "" "" "" "GRIN2B(NM_000834.4):c.2126T>C (p.F709S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13571849A>G" "" "VUS" "" "0000547277" "0" "50" "12" "13768132" "13768132" "subst" "0" "02327" "GRIN2B_000092" "g.13768132C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13615198C>T" "" "VUS" "" "0000547278" "0" "70" "12" "13768147" "13768147" "subst" "0" "02327" "GRIN2B_000060" "g.13768147G>A" "" "" "" "GRIN2B(NM_000834.5):c.1555C>T (p.R519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13615213G>A" "" "likely pathogenic" "" "0000547279" "0" "70" "12" "13768165" "13768165" "subst" "0" "01943" "GRIN2B_000093" "g.13768165G>A" "" "" "" "GRIN2B(NM_000834.4):c.1537C>T (p.L513F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13615231G>A" "" "likely pathogenic" "" "0000547280" "0" "70" "12" "13768552" "13768552" "subst" "0" "02327" "GRIN2B_000094" "g.13768552C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13615618C>T" "" "likely pathogenic" "" "0000547281" "0" "70" "12" "14018859" "14018859" "del" "0" "02327" "GRIN2B_000095" "g.14018859del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865925del" "" "likely pathogenic" "" "0000547282" "0" "50" "12" "14018886" "14018886" "subst" "0" "02327" "GRIN2B_000096" "g.14018886C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865952C>T" "" "VUS" "" "0000547283" "0" "50" "12" "14019003" "14019003" "subst" "6.11053E-5" "01943" "GRIN2B_000030" "g.14019003T>C" "" "" "" "GRIN2B(NM_000834.4):c.140A>G (p.E47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13866069T>C" "" "VUS" "" "0000547284" "0" "30" "12" "14019003" "14019003" "subst" "6.11053E-5" "02326" "GRIN2B_000030" "g.14019003T>C" "" "" "" "GRIN2B(NM_000834.4):c.140A>G (p.E47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13866069T>C" "" "likely benign" "" "0000577987" "0" "70" "12" "13720099" "13720099" "subst" "0" "01807" "GRIN2B_000087" "g.13720099C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13567165C>T" "" "likely pathogenic" "" "0000592561" "0" "70" "12" "13717327" "13717327" "subst" "4.06055E-6" "00006" "GRIN2B_000097" "g.13717327A>G" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.13564393A>G" "" "VUS" "" "0000613977" "0" "50" "12" "13716451" "13716451" "subst" "0" "01943" "GRIN2B_000098" "g.13716451G>A" "" "" "" "GRIN2B(NM_000834.4):c.3721C>T (p.R1241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13563517G>A" "" "VUS" "" "0000613978" "0" "50" "12" "13720061" "13720061" "subst" "0" "02327" "GRIN2B_000099" "g.13720061G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13567127G>C" "" "VUS" "" "0000613979" "0" "50" "12" "13906342" "13906342" "subst" "0" "02327" "GRIN2B_000100" "g.13906342T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753408T>C" "" "VUS" "" "0000613980" "0" "30" "12" "14018783" "14018783" "subst" "4.06696E-5" "02326" "GRIN2B_000101" "g.14018783G>A" "" "" "" "GRIN2B(NM_000834.4):c.360C>T (p.L120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865849G>A" "" "likely benign" "" "0000648504" "1" "30" "12" "13715150" "13715150" "subst" "0" "03575" "GRIN2B_000102" "g.13715150T>G" "89/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "89 heterozygous; {DB:CLININrs1805503}" "Germline" "" "rs1805503" "0" "" "" "g.13562216T>G" "" "likely benign" "" "0000648505" "1" "50" "12" "13715375" "13715375" "subst" "0" "03575" "GRIN2B_000103" "g.13715375G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous; {DB:CLININrs78222734}" "Germline" "" "rs78222734" "0" "" "" "g.13562441G>A" "" "VUS" "" "0000657047" "0" "70" "12" "13722820" "13722820" "subst" "0" "02325" "GRIN2B_000104" "g.13722820T>G" "" "" "" "GRIN2B(NM_000834.5):c.2303A>C (p.K768T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13569886T>G" "" "likely pathogenic" "" "0000657049" "0" "90" "12" "13764780" "13764780" "dup" "0" "02325" "GRIN2B_000106" "g.13764780dup" "" "" "" "GRIN2B(NM_000834.5):c.1659dupA (p.F554Ifs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13611846dup" "" "pathogenic" "" "0000657050" "0" "50" "12" "13768112" "13768112" "subst" "0" "02329" "GRIN2B_000107" "g.13768112T>C" "" "" "" "GRIN2B(NM_000834.4):c.1590A>G (p.I530M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13615178T>C" "" "VUS" "" "0000657051" "0" "30" "12" "13906719" "13906719" "subst" "0" "02327" "GRIN2B_000108" "g.13906719T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753785T>G" "" "likely benign" "" "0000657052" "0" "50" "12" "14018742" "14018742" "subst" "0" "01943" "GRIN2B_000109" "g.14018742A>G" "" "" "" "GRIN2B(NM_000834.4):c.401T>C (p.M134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13865808A>G" "" "VUS" "" "0000667300" "0" "70" "12" "13720098" "13720098" "subst" "0" "00006" "GRIN2B_000070" "g.13720098C>T" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.13567164C>T" "" "pathogenic (dominant)" "" "0000667522" "0" "90" "12" "13761631" "13761631" "subst" "0" "00006" "GRIN2B_000050" "g.13761631G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.13608697G>A" "" "pathogenic (dominant)" "ACMG" "0000669155" "3" "30" "12" "13715150" "13715150" "subst" "0" "03575" "GRIN2B_000102" "g.13715150T>G" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs1805503}" "Germline" "" "rs1805503" "0" "" "" "g.13562216T>G" "" "likely benign" "" "0000669156" "3" "50" "12" "13715375" "13715375" "subst" "0" "03575" "GRIN2B_000103" "g.13715375G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs78222734}" "Germline" "" "rs78222734" "0" "" "" "g.13562441G>A" "" "VUS" "" "0000679442" "0" "50" "12" "13716187" "13716187" "subst" "0" "02325" "GRIN2B_000110" "g.13716187G>C" "" "" "" "GRIN2B(NM_000834.5):c.3985C>G (p.R1329G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679443" "0" "90" "12" "13720018" "13720018" "subst" "0" "02325" "GRIN2B_000041" "g.13720018G>A" "" "" "" "GRIN2B(NM_000834.3):c.2539C>T (p.(Arg847Ter)), GRIN2B(NM_000834.4):c.2539C>T (p.R847*), GRIN2B(NM_000834.5):c.2539C>T (p.R847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679444" "0" "90" "12" "13722871" "13722871" "subst" "0" "02327" "GRIN2B_000025" "g.13722871A>G" "" "" "" "GRIN2B(NM_000834.4):c.2252T>C (p.I751T), GRIN2B(NM_000834.5):c.2252T>C (p.I751T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679445" "0" "30" "12" "13722957" "13722957" "subst" "3.26384E-5" "02326" "GRIN2B_000046" "g.13722957C>T" "" "" "" "GRIN2B(NM_000834.4):c.2172-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683313" "0" "70" "12" "13906612" "13906612" "subst" "0" "00006" "GRIN2B_000112" "g.13906612G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13753678G>A" "" "likely pathogenic (dominant)" "" "0000683314" "0" "70" "12" "13828716" "13828716" "del" "0" "00006" "GRIN2B_000111" "g.13828716del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13675782del" "" "likely pathogenic (dominant)" "" "0000687377" "0" "90" "12" "13768432" "13768432" "subst" "0" "00006" "GRIN2B_000168" "g.13768432C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13615498C>T" "" "likely pathogenic (dominant)" "" "0000687378" "0" "90" "12" "13906813" "13906813" "subst" "0" "00006" "GRIN2B_000176" "g.13906813T>C" "" "{PMID:Retterer 2015:26633542}" "" "" "" "De novo" "" "" "0" "" "" "g.13753879T>C" "" "likely pathogenic (dominant)" "" "0000687379" "0" "90" "12" "13769479" "13769479" "subst" "0" "00006" "GRIN2B_000173" "g.13769479T>C" "" "{PMID:Adams 2014:24863970}" "" "" "" "De novo" "" "" "0" "" "" "g.13616545T>C" "" "pathogenic (dominant)" "" "0000687380" "0" "90" "12" "13769411" "13769411" "subst" "0" "00006" "GRIN2B_000172" "g.13769411A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13616477A>G" "" "likely pathogenic (dominant)" "" "0000687381" "0" "90" "12" "13768560" "13768560" "subst" "0" "00006" "GRIN2B_000171" "g.13768560C>T" "" "{PMID:O\'Roak 2012:23160955}" "" "" "" "De novo" "" "" "0" "" "" "g.13615626C>T" "" "likely pathogenic (dominant)" "" "0000687382" "0" "90" "12" "13768545" "13768545" "subst" "0" "00006" "GRIN2B_000169" "g.13768545C>A" "" "{PMID:Epi4K Consortium2013:23934111}" "" "" "" "De novo" "" "" "0" "" "" "g.13615611C>A" "" "pathogenic (dominant)" "" "0000687383" "0" "90" "12" "13768162" "13768162" "subst" "0" "00006" "GRIN2B_000167" "g.13768162T>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13615228T>C" "" "likely pathogenic (dominant)" "" "0000687384" "0" "90" "12" "13768155" "13768155" "subst" "0" "00006" "GRIN2B_000166" "g.13768155T>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13615221T>C" "" "likely pathogenic (dominant)" "" "0000687385" "0" "90" "12" "13768129" "13768129" "subst" "0" "00006" "GRIN2B_000165" "g.13768129A>C" "" "{PMID:O\'Roak 2014:25418537}" "" "" "" "De novo" "" "" "0" "" "" "g.13615195A>C" "" "likely pathogenic (dominant)" "" "0000687386" "0" "90" "12" "13768083" "13768083" "subst" "0" "00006" "GRIN2B_000163" "g.13768083C>T" "" "{PMID:Lemke 2014:24272827}" "" "" "" "De novo" "" "" "0" "" "" "g.13615149C>T" "" "likely pathogenic (dominant)" "" "0000687387" "0" "90" "12" "13768083" "13768083" "subst" "0" "00006" "GRIN2B_000163" "g.13768083C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13615149C>T" "" "likely pathogenic (dominant)" "" "0000687388" "0" "90" "12" "13768079" "13768079" "subst" "0" "00006" "GRIN2B_000162" "g.13768079G>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13615145G>C" "" "pathogenic (dominant)" "" "0000687389" "0" "90" "12" "13764775" "13764775" "subst" "0" "00006" "GRIN2B_000159" "g.13764775C>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13611841C>A" "" "likely pathogenic (dominant)" "" "0000687390" "0" "90" "12" "13764767" "13764767" "subst" "0" "00006" "GRIN2B_000158" "g.13764767C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13611833C>T" "" "pathogenic (dominant)" "" "0000687391" "0" "90" "12" "13761726" "13761726" "subst" "0" "00006" "GRIN2B_000155" "g.13761726C>A" "" "{PMID:Yavarna 2015:26077850}" "" "" "" "De novo" "" "" "0" "" "" "g.13608792C>A" "" "pathogenic (dominant)" "" "0000687392" "0" "90" "12" "13761715" "13761715" "subst" "0" "00006" "GRIN2B_000154" "g.13761715C>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608781C>A" "" "likely pathogenic (dominant)" "" "0000687393" "0" "90" "12" "13761703" "13761703" "subst" "0" "00006" "GRIN2B_000153" "g.13761703T>A" "" "{PMID:Lemke 2014:24272827}" "" "" "" "De novo" "" "" "0" "" "" "g.13608769T>A" "" "likely pathogenic (dominant)" "" "0000687394" "0" "90" "12" "9923442" "9923442" "subst" "0" "00006" "GRIN2B_000113" "g.9923442G>C" "" "from DECIPHER database" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9829585G>C" "" "likely pathogenic (dominant)" "" "0000687395" "0" "90" "12" "13761699" "13761699" "subst" "0" "00006" "GRIN2B_000152" "g.13761699G>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608765G>C" "" "likely pathogenic (dominant)" "" "0000687396" "0" "90" "12" "13761694" "13761694" "subst" "0" "00006" "GRIN2B_000151" "g.13761694A>C" "" "{PMID:Lemke 2014:24272827}" "" "" "" "De novo" "" "" "0" "" "" "g.13608760A>C" "" "likely pathogenic (dominant)" "" "0000687397" "0" "90" "12" "13761689" "13761689" "subst" "0" "00006" "GRIN2B_000150" "g.13761689C>T" "" "{PMID:Retterer 2015:26633542}" "" "" "" "De novo" "" "" "0" "" "" "g.13608755C>T" "" "pathogenic" "" "0000687398" "0" "90" "12" "13761664" "13761664" "subst" "0" "00006" "GRIN2B_000148" "g.13761664G>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608730G>C" "" "likely pathogenic (dominant)" "" "0000687399" "0" "90" "12" "13761664" "13761664" "subst" "0" "00006" "GRIN2B_000149" "g.13761664G>A" "" "from DECIPHER database" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13608730G>A" "" "likely pathogenic (dominant)" "" "0000687400" "0" "90" "12" "13761641" "13761641" "subst" "0" "00006" "GRIN2B_000147" "g.13761641C>G" "" "{PMID:Freunscht 2013:23718928}" "" "" "" "De novo" "" "" "0" "" "" "g.13608707C>G" "" "likely pathogenic (dominant)" "" "0000687401" "0" "90" "12" "13761640" "13761640" "subst" "0" "00006" "GRIN2B_000146" "g.13761640G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608706G>A" "" "likely pathogenic (dominant)" "" "0000687402" "0" "90" "12" "13761631" "13761631" "subst" "0" "00006" "GRIN2B_000050" "g.13761631G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608697G>A" "" "likely pathogenic (dominant)" "" "0000687403" "0" "90" "12" "13761584" "13761584" "subst" "0" "00006" "GRIN2B_000144" "g.13761584T>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608650T>A" "" "likely pathogenic (dominant)" "" "0000687404" "0" "90" "12" "13761577" "13761577" "subst" "0" "00006" "GRIN2B_000142" "g.13761577T>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13608643T>C" "" "likely pathogenic (dominant)" "" "0000687405" "0" "90" "12" "13761562" "13761562" "subst" "0" "00006" "GRIN2B_000141" "g.13761562T>G" "" "{PMID:Zhang 2015:26544041}" "" "" "" "De novo" "" "" "0" "" "" "g.13608628T>G" "" "likely pathogenic (dominant)" "" "0000687406" "0" "90" "12" "13761545" "13761545" "subst" "0" "00006" "GRIN2B_000140" "g.13761545C>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13608611C>A" "" "likely pathogenic (dominant)" "" "0000687407" "0" "90" "12" "13724849" "13724849" "subst" "0" "00006" "GRIN2B_000138" "g.13724849G>C" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571915G>C" "" "likely pathogenic (dominant)" "" "0000687408" "0" "90" "12" "13724849" "13724849" "subst" "0" "00006" "GRIN2B_000139" "g.13724849G>A" "" "{PMID:Retterer 2015:26633542}" "" "" "" "De novo" "" "" "0" "" "" "g.13571915G>A" "" "likely pathogenic" "" "0000687409" "0" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571910C>T" "" "likely pathogenic (dominant)" "" "0000687410" "0" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571910C>T" "" "likely pathogenic (dominant)" "" "0000687411" "0" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571910C>T" "" "likely pathogenic (dominant)" "" "0000687412" "0" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571910C>T" "" "likely pathogenic (dominant)" "" "0000687413" "0" "90" "12" "13724830" "13724830" "subst" "0" "00006" "GRIN2B_000137" "g.13724830T>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571896T>A" "" "likely pathogenic (dominant)" "" "0000687414" "0" "90" "12" "13724825" "13724825" "subst" "0" "00006" "GRIN2B_000136" "g.13724825A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13571891A>G" "" "likely pathogenic (dominant)" "" "0000687415" "0" "90" "12" "13724822" "13724822" "subst" "0" "00006" "GRIN2B_000134" "g.13724822C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13571888C>T" "" "likely pathogenic (dominant)" "" "0000687416" "0" "90" "12" "13724822" "13724822" "subst" "0" "00006" "GRIN2B_000134" "g.13724822C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571888C>T" "" "likely pathogenic (dominant)" "" "0000687417" "0" "90" "12" "13724793" "13724793" "subst" "0" "00006" "GRIN2B_000047" "g.13724793T>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13571859T>C" "" "likely pathogenic (dominant)" "" "0000687418" "0" "90" "12" "13722922" "13722922" "subst" "0" "00006" "GRIN2B_000131" "g.13722922G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13569988G>A" "" "likely pathogenic (dominant)" "" "0000687419" "0" "90" "12" "13722871" "13722871" "subst" "0" "00006" "GRIN2B_000025" "g.13722871A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13569937A>G" "" "likely pathogenic (dominant)" "" "0000687420" "0" "90" "12" "13722871" "13722871" "subst" "0" "00006" "GRIN2B_000025" "g.13722871A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13569937A>G" "" "likely pathogenic (dominant)" "" "0000687421" "0" "90" "12" "13722871" "13722871" "subst" "0" "00006" "GRIN2B_000025" "g.13722871A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13569937A>G" "" "likely pathogenic (dominant)" "" "0000687422" "0" "90" "12" "13720138" "13720138" "subst" "0" "00006" "GRIN2B_000129" "g.13720138C>T" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567204C>T" "" "likely pathogenic (dominant)" "" "0000687423" "0" "90" "12" "13720127" "13720127" "subst" "0" "00006" "GRIN2B_000127" "g.13720127G>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567193G>T" "" "pathogenic (dominant)" "" "0000687424" "0" "90" "12" "13720128" "13720128" "subst" "0" "00006" "GRIN2B_000128" "g.13720128C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567194C>T" "" "likely pathogenic (dominant)" "" "0000687425" "0" "90" "12" "13720105" "13720105" "subst" "0" "00006" "GRIN2B_000126" "g.13720105T>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567171T>G" "" "likely pathogenic (dominant)" "" "0000687426" "0" "90" "12" "13720104" "13720104" "subst" "0" "00006" "GRIN2B_000125" "g.13720104A>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567170A>G" "" "likely pathogenic (dominant)" "" "0000687427" "0" "90" "12" "13720102" "13720102" "subst" "0" "00006" "GRIN2B_000124" "g.13720102C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567168C>T" "" "likely pathogenic (dominant)" "" "0000687428" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567164C>G" "" "likely pathogenic (dominant)" "" "0000687429" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567164C>G" "" "likely pathogenic (dominant)" "" "0000687430" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567164C>G" "" "likely pathogenic (dominant)" "" "0000687431" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567164C>G" "" "likely pathogenic (dominant)" "" "0000687432" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567164C>G" "" "likely pathogenic (dominant)" "" "0000687433" "0" "90" "12" "13720098" "13720098" "subst" "0" "00006" "GRIN2B_000123" "g.13720098C>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567164C>A" "" "likely pathogenic (dominant)" "" "0000687434" "0" "90" "12" "13720086" "13720086" "subst" "0" "00006" "GRIN2B_000122" "g.13720086A>C" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.13567152A>C" "" "pathogenic (dominant)" "" "0000687435" "0" "90" "12" "13720084" "13720084" "subst" "0" "00006" "GRIN2B_000121" "g.13720084A>C" "" "{PMID:Tarabeux 2011:22833210}" "" "" "" "De novo" "" "" "0" "" "" "g.13567150A>C" "" "likely pathogenic (dominant)" "" "0000687436" "0" "90" "12" "13720080" "13720080" "subst" "0" "00006" "GRIN2B_000081" "g.13720080C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567146C>T" "" "likely pathogenic (dominant)" "" "0000687437" "0" "70" "12" "13717245" "13717247" "del" "0" "00006" "GRIN2B_000117" "g.13717245_13717247del" "" "{PMID:Platzer 2017:28377535}" "" "2926_2928delAAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13564311_13564313del" "" "VUS" "" "0000687438" "0" "70" "12" "13716840" "13716840" "subst" "0" "00006" "GRIN2B_000114" "g.13716840C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13563906C>T" "" "VUS" "" "0000687439" "0" "70" "12" "13768104" "13768104" "subst" "0" "00006" "GRIN2B_000164" "g.13768104C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13615170C>T" "" "VUS" "" "0000687553" "0" "90" "12" "14019050" "14019050" "dup" "0" "00006" "GRIN2B_000177" "g.14019050dup" "" "{PMID:O\'Roak 2012:23160955}" "" "99dupC" "" "De novo" "" "" "0" "" "" "g.13866116dup" "" "pathogenic (dominant)" "" "0000687554" "0" "90" "12" "13906723" "13906723" "subst" "0" "00006" "GRIN2B_000175" "g.13906723G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13753789G>A" "" "pathogenic (dominant)" "" "0000687555" "0" "90" "12" "13906524" "13906524" "subst" "0" "00006" "GRIN2B_000026" "g.13906524G>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13753590G>T" "" "pathogenic (dominant)" "" "0000687556" "0" "90" "12" "13828685" "13828685" "subst" "0" "00006" "GRIN2B_000174" "g.13828685C>T" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13675751C>T" "" "pathogenic (dominant)" "" "0000687557" "0" "90" "12" "13764762" "13764762" "subst" "0" "00006" "GRIN2B_000157" "g.13764762C>T" "" "{PMID:O\'Roak 2012:23160955}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13611828C>T" "" "pathogenic (dominant)" "" "0000687558" "0" "90" "12" "13761581" "13761581" "subst" "0" "00006" "GRIN2B_000143" "g.13761581G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13608647G>A" "" "pathogenic (dominant)" "" "0000687559" "0" "90" "12" "13724778" "13724778" "subst" "0" "00006" "GRIN2B_000133" "g.13724778G>A" "" "{PMID:Kenny 2014:24126926}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571844G>A" "" "pathogenic (dominant)" "" "0000687560" "0" "90" "12" "13722953" "13722953" "subst" "0" "00006" "GRIN2B_000132" "g.13722953T>C" "" "{PMID:O\'Roak 2012:23160955}" "" "" "" "De novo" "" "" "0" "" "" "g.13570019T>C" "" "pathogenic (dominant)" "" "0000687561" "0" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567084G>A" "" "likely pathogenic (dominant)" "" "0000687562" "0" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic (dominant)" "" "0000687563" "0" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "" "" "" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic (dominant)" "" "0000687564" "0" "90" "12" "13986000" "14040000" "del" "0" "00006" "GRIN2B_000204" "g.(?_13986000)_(14040000_?)del" "" "" "" "del ex2 12:13,986,000-14,040,000" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687565" "0" "90" "12" "0" "0" "" "0" "00006" "GRIN2B_000202" "g.(?_g.13656611)_(13749771_?)del" "" "" "" "del ex11-13 12:13,656,611-13,749,771" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000687566" "0" "90" "12" "13724779" "13828818" "del" "0" "00006" "GRIN2B_000203" "g.(?_13724779)_(13828818_?)del" "" "" "" "del ex5-9 12:13,724,779-13,828,818" "from DECIPHER database" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687567" "0" "90" "12" "13595477" "13814290" "del" "0" "00006" "GRIN2B_000200" "g.(?_13595477)_(13814290_?)del" "" "{PMID:Platzer 2017:28377535}" "" "del ex5-13 hg19:13595477-13814290" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000687568" "0" "90" "12" "13955818" "82319026" "inv" "0" "00006" "GRIN2B_000207" "g.82319026_13955818inv" "" "{PMID:Talkowski 2012:22521361}" "" "inv(12)(p13.1q21.31)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000687569" "0" "90" "12" "13719969" "13719969" "del" "0" "00006" "GRIN2B_000119" "g.13719969del" "" "{PMID:Retterer 2015:26633542}" "" "2589delC" "" "De novo" "" "" "0" "" "" "g.13567035del" "" "pathogenic" "" "0000687570" "0" "90" "12" "13717160" "13717160" "subst" "0" "00006" "GRIN2B_000116" "g.13717160G>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "De novo" "" "" "0" "" "" "g.13564226G>C" "" "VUS" "" "0000687571" "0" "90" "12" "13716879" "13716879" "del" "0" "00006" "GRIN2B_000115" "g.13716879del" "" "{PMID:Rauch 2012:23020937}" "" "3295delC" "" "De novo" "" "" "0" "" "" "g.13563945del" "" "VUS" "" "0000687668" "0" "90" "12" "13764782" "13764782" "subst" "0" "00006" "GRIN2B_000160" "g.13764782G>T" "" "{PMID:Soto 2017:28734458}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13611848G>T" "" "pathogenic" "" "0000687670" "0" "90" "12" "13720042" "13720042" "subst" "0" "00006" "GRIN2B_000120" "g.13720042C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567108C>T" "" "pathogenic" "" "0000687671" "0" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "" "" "dup ex5-13 chr12:13,640,341-13,799,849x3" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687672" "0" "90" "12" "13768559" "13768559" "subst" "0" "00006" "GRIN2B_000170" "g.13768559G>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13615625G>T" "" "pathogenic" "" "0000687676" "1" "90" "12" "13720102" "13720102" "subst" "0" "00006" "GRIN2B_000124" "g.13720102C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.13567168C>T" "" "pathogenic" "" "0000687678" "1" "90" "12" "13764663" "13764663" "del" "0" "00006" "GRIN2B_000054" "g.13764663del" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.13611729del" "" "pathogenic" "" "0000687679" "1" "90" "12" "13720027" "13720027" "subst" "2.03031E-5" "00006" "GRIN2B_000042" "g.13720027A>G" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567093A>G" "" "pathogenic" "" "0000687680" "1" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic" "" "0000687681" "1" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic" "" "0000687682" "1" "90" "12" "13720018" "13720018" "subst" "0" "00006" "GRIN2B_000041" "g.13720018G>A" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567084G>A" "" "pathogenic" "" "0000687683" "1" "90" "12" "13764684" "13764684" "del" "0" "00006" "GRIN2B_000055" "g.13764684del" "" "Hoffer" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13611750del" "" "pathogenic" "" "0000687684" "1" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "Hoffer" "" "chr12:13,595,477-13,781,099x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687686" "1" "90" "12" "13761727" "13761727" "subst" "0" "00006" "GRIN2B_000156" "g.13761727C>G" "" "Jansson" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13608793C>G" "" "pathogenic" "" "0000687689" "1" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "" "" "del intron 1 chr12:14,042,568-14,133,113x1" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000687690" "1" "90" "12" "13768050" "13768050" "subst" "0" "00006" "GRIN2B_000161" "g.13768050A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.13615116A>G" "" "pathogenic" "" "0000687691" "1" "90" "12" "13724823" "13724823" "subst" "0" "00006" "GRIN2B_000135" "g.13724823G>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.13571889G>T" "" "pathogenic" "" "0000687692" "1" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13571910C>T" "" "pathogenic" "" "0000687697" "1" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "" "" "del intron 1 chr12:14,042,568-14,133,113x1" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687702" "1" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "" "" "" "dup intron 7-2 chr12:13,765,291-13,996,711x3" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687703" "1" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13571910C>T" "" "pathogenic" "" "0000687704" "1" "90" "12" "13761625" "13761625" "subst" "0" "00006" "GRIN2B_000145" "g.13761625A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13608691A>G" "" "pathogenic" "" "0000687705" "1" "90" "12" "13722791" "13722791" "subst" "0" "00006" "GRIN2B_000130" "g.13722791G>T" "" "{PMID:Lei 2017:28387813}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13569857G>T" "" "pathogenic" "" "0000687707" "1" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "00006" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Yoo 2017:28856709}" "" "Gly820Ala" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567164C>G" "" "pathogenic" "" "0000687708" "1" "90" "12" "13724844" "13724844" "subst" "0" "00006" "GRIN2B_000023" "g.13724844C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13571910C>T" "" "pathogenic" "" "0000687709" "1" "90" "12" "13720105" "13720105" "subst" "0" "00006" "GRIN2B_000126" "g.13720105T>G" "" "Stosser 2017" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567171T>G" "" "pathogenic" "" "0000687710" "1" "90" "12" "13717317" "13717317" "subst" "8.12117E-6" "00006" "GRIN2B_000118" "g.13717317G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.13564383G>A" "" "pathogenic" "" "0000687711" "1" "90" "12" "13720042" "13720042" "subst" "0" "00006" "GRIN2B_000120" "g.13720042C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.13567108C>T" "" "pathogenic" "" "0000691298" "0" "30" "12" "13720076" "13720076" "subst" "0.000154308" "01943" "GRIN2B_000043" "g.13720076C>T" "" "" "" "GRIN2B(NM_000834.4):c.2481G>A (p.A827=), GRIN2B(NM_000834.5):c.2481G>A (p.A827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691299" "0" "90" "12" "13722871" "13722871" "subst" "0" "02325" "GRIN2B_000025" "g.13722871A>G" "" "" "" "GRIN2B(NM_000834.4):c.2252T>C (p.I751T), GRIN2B(NM_000834.5):c.2252T>C (p.I751T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691300" "0" "70" "12" "13724864" "13724864" "subst" "0" "02325" "GRIN2B_000178" "g.13724864C>T" "" "" "" "GRIN2B(NM_000834.5):c.2045G>A (p.R682H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723940" "0" "30" "12" "13715930" "13715930" "subst" "8.12922E-6" "01943" "GRIN2B_000179" "g.13715930C>T" "" "" "" "GRIN2B(NM_000834.4):c.4242G>A (p.A1414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723941" "0" "30" "12" "13716191" "13716191" "subst" "0.000109666" "01943" "GRIN2B_000180" "g.13716191C>T" "" "" "" "GRIN2B(NM_000834.4):c.3981G>A (p.K1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723942" "0" "30" "12" "13716359" "13716359" "subst" "4.06138E-6" "01943" "GRIN2B_000181" "g.13716359C>T" "" "" "" "GRIN2B(NM_000834.4):c.3813G>A (p.A1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723943" "0" "30" "12" "13717544" "13717544" "subst" "0.00107427" "01943" "GRIN2B_000014" "g.13717544C>T" "" "" "" "GRIN2B(NM_000834.4):c.2628G>A (p.A876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723944" "0" "70" "12" "13720104" "13720104" "subst" "0" "01943" "GRIN2B_000125" "g.13720104A>G" "" "" "" "GRIN2B(NM_000834.4):c.2453T>C (p.M818T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723945" "0" "70" "12" "13724822" "13724822" "subst" "0" "02329" "GRIN2B_000182" "g.13724822C>A" "" "" "" "GRIN2B(NM_000834.5):c.2087G>T (p.R696L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723946" "0" "70" "12" "13768119" "13768119" "subst" "0" "02325" "GRIN2B_000183" "g.13768119G>A" "" "" "" "GRIN2B(NM_000834.5):c.1583C>T (p.P528L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723947" "0" "30" "12" "13906449" "13906449" "subst" "0.000158756" "01943" "GRIN2B_000184" "g.13906449G>A" "" "" "" "GRIN2B(NM_000834.4):c.812C>T (p.A271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723948" "0" "30" "12" "13906796" "13906796" "subst" "0.000236965" "01943" "GRIN2B_000185" "g.13906796G>T" "" "" "" "GRIN2B(NM_000834.4):c.465C>A (p.S155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723949" "0" "30" "12" "14018819" "14018819" "subst" "8.13392E-6" "01943" "GRIN2B_000186" "g.14018819G>A" "" "" "" "GRIN2B(NM_000834.4):c.324C>T (p.I108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785873" "0" "90" "12" "13761720" "13761728" "del" "0" "01864" "GRIN2B_000187" "g.13761720_13761728del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.13608786_13608794del" "" "pathogenic (dominant)" "ACMG" "0000805627" "0" "30" "12" "13716071" "13716071" "subst" "9.34154E-5" "01943" "GRIN2B_000188" "g.13716071G>A" "" "" "" "GRIN2B(NM_000834.4):c.4101C>T (p.P1367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805628" "0" "30" "12" "13716365" "13716365" "subst" "0.000507651" "01943" "GRIN2B_000035" "g.13716365T>A" "" "" "" "GRIN2B(NM_000834.4):c.3807A>T (p.P1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805629" "0" "50" "12" "13716783" "13716783" "subst" "9.35286E-5" "01943" "GRIN2B_000189" "g.13716783C>T" "" "" "" "GRIN2B(NM_000834.4):c.3389G>A (p.R1130Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805630" "0" "50" "12" "13720020" "13720020" "subst" "0" "01943" "GRIN2B_000190" "g.13720020A>C" "" "" "" "GRIN2B(NM_000834.4):c.2537T>G (p.F846C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805631" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "02325" "GRIN2B_000024" "g.13720098C>G" "" "" "" "GRIN2B(NM_000834.4):c.2459G>C (p.G820A), GRIN2B(NM_000834.5):c.2459G>C (p.G820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805632" "0" "30" "12" "14019110" "14019110" "subst" "8.30758E-6" "01943" "GRIN2B_000191" "g.14019110C>T" "" "" "" "GRIN2B(NM_000834.4):c.33G>A (p.K11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853332" "0" "50" "12" "13724843" "13724843" "subst" "0" "02325" "GRIN2B_000193" "g.13724843C>G" "" "" "" "GRIN2B(NM_000834.5):c.2066G>C (p.G689A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862917" "0" "50" "12" "13716422" "13716422" "subst" "0" "02329" "GRIN2B_000192" "g.13716422G>T" "" "" "" "GRIN2B(NM_000834.4):c.3750C>A (p.N1250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862918" "0" "70" "12" "13724793" "13724793" "subst" "0" "01804" "GRIN2B_000047" "g.13724793T>C" "" "" "" "GRIN2B(NM_000834.3):c.2116A>G (p.(Met706Val)), GRIN2B(NM_000834.4):c.2116A>G (p.M706V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862919" "0" "90" "12" "13761618" "13761618" "del" "0" "01943" "GRIN2B_000194" "g.13761618del" "" "" "" "GRIN2B(NM_000834.4):c.1930delG (p.A644Pfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862920" "0" "30" "12" "13764650" "13764650" "subst" "0.000312774" "01943" "GRIN2B_000012" "g.13764650C>T" "" "" "" "GRIN2B(NM_000834.4):c.1780+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862921" "0" "90" "12" "13768083" "13768083" "subst" "0" "01804" "GRIN2B_000163" "g.13768083C>T" "" "" "" "GRIN2B(NM_000834.3):c.1619G>A (p.(Arg540His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000881126" "0" "90" "12" "13720098" "13720098" "subst" "4.06072E-6" "02300" "GRIN2B_000024" "g.13720098C>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs797044849" "0" "" "" "g.13567164C>G" "" "pathogenic (dominant)" "ACMG" "0000881249" "0" "90" "12" "13768096" "13768096" "subst" "0" "02300" "GRIN2B_000195" "g.13768096C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.13615162C>T" "" "pathogenic (dominant)" "ACMG" "0000890436" "0" "50" "12" "13716933" "13716933" "subst" "0" "02327" "GRIN2B_000196" "g.13716933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890437" "0" "50" "12" "13717474" "13717474" "subst" "0" "02325" "GRIN2B_000197" "g.13717474G>A" "" "" "" "GRIN2B(NM_000834.5):c.2698C>T (p.R900C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890438" "0" "30" "12" "13722951" "13722951" "subst" "0" "02326" "GRIN2B_000089" "g.13722951C>A" "" "" "" "GRIN2B(NM_000834.3):c.2172G>T (p.(=)), GRIN2B(NM_000834.4):c.2172G>T (p.G724=), GRIN2B(NM_000834.5):c.2172G>T (p.G724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890439" "0" "50" "12" "13724810" "13724810" "subst" "4.06101E-6" "02325" "GRIN2B_000198" "g.13724810G>C" "" "" "" "GRIN2B(NM_000834.5):c.2099C>G (p.A700G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890440" "0" "70" "12" "13769540" "13769540" "subst" "0" "02327" "GRIN2B_000199" "g.13769540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913798" "0" "90" "12" "13720018" "13720018" "subst" "0" "02329" "GRIN2B_000041" "g.13720018G>A" "" "" "" "GRIN2B(NM_000834.3):c.2539C>T (p.(Arg847Ter)), GRIN2B(NM_000834.4):c.2539C>T (p.R847*), GRIN2B(NM_000834.5):c.2539C>T (p.R847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918156" "0" "70" "12" "13720120" "13720120" "subst" "0" "00006" "GRIN2B_000208" "g.13720120G>C" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PM5, PS2_mod, PM1" "De novo" "" "" "0" "" "" "g.13567186G>C" "" "likely pathogenic (dominant)" "ACMG" "0000918157" "0" "70" "12" "13720119" "13720119" "subst" "0" "00006" "GRIN2B_000088" "g.13720119A>G" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PM5, PS2_mod, PM1" "De novo" "" "" "0" "" "" "g.13567185A>G" "" "likely pathogenic (dominant)" "ACMG" "0000918158" "0" "90" "12" "13720104" "13720104" "subst" "0" "00006" "GRIN2B_000125" "g.13720104A>G" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PS2_str, PM1" "De novo" "" "" "0" "" "" "g.13567170A>G" "" "pathogenic (dominant)" "ACMG" "0000918168" "0" "90" "12" "13906813" "13906813" "subst" "0" "00006" "GRIN2B_000176" "g.13906813T>C" "" "{PMID:Platzer 2017:28377535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13753879T>C" "" "likely pathogenic (dominant)" "" "0000918173" "11" "53" "12" "13724908" "13724909" "del" "0" "00006" "GRIN2B_000201" "g.13724908_13724909del" "" "{PMID:Lemke 2014:24272827}" "" "c.2011-5_2011-4delTC" "" "Germline" "" "" "0" "" "" "g.13571974_13571975del" "" "VUS" "" "0000918174" "0" "90" "12" "0" "0" "" "0" "00006" "GRIN2B_000205" "g.(13769592_13828678)_qterdelins[NC_000009.11:g.(9000001_14200000)_qter]" "" "{PMID:Endele 2010:20890276}" "" "" "" "De novo" "" "" "0" "" "46XY t(9;12)(p23;p13.1)" "g.(13616658_13675744)_qterdelins[NC_000009.12:g.(9000001_14200000)_qter]" "" "pathogenic (dominant)" "" "0000918175" "0" "90" "12" "0" "0" "" "0" "00006" "GRIN2B_000206" "g.(13968732_14018731)_qterdelins[NC_000009.11:g.pter_(52900001_70600000)inv]" "" "{PMID:Endele 2010:20890276}" "" "" "" "De novo" "" "" "0" "" "46,XY t(10;12)(q21.1;p13.1)" "g.(13815798_13865797)_qterdelins[NC_000009.12:g.pter_(51100001_68800000)inv]" "" "pathogenic (dominant)" "" "0000925593" "0" "50" "12" "13716682" "13716682" "subst" "4.07319E-6" "02325" "GRIN2B_000209" "g.13716682G>A" "" "" "" "GRIN2B(NM_000834.5):c.3490C>T (p.R1164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925594" "0" "50" "12" "14018981" "14018981" "subst" "0" "02325" "GRIN2B_000210" "g.14018981G>C" "" "" "" "GRIN2B(NM_000834.5):c.162C>G (p.H54Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927632" "0" "70" "12" "13716499" "13716505" "delins" "0" "01164" "GRIN2B_000211" "g.13716499_13716505delinsCCTACTC" "" "" "" "" "ACMG: PVS1_STR, PS2_MOD, PM2_SUP" "De novo" "-" "" "" "" "" "g.13563565_13563571delinsCCTACTC" "" "likely pathogenic (dominant)" "ACMG" "0000930055" "0" "70" "12" "13720099" "13720099" "subst" "0" "02325" "GRIN2B_000087" "g.13720099C>T" "" "" "" "GRIN2B(NM_000834.5):c.2458G>A (p.G820R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000935200" "0" "50" "12" "13720017" "13720017" "subst" "0" "01164" "GRIN2B_000212" "g.13720017C>T" "" "" "" "" "ACMG: PS2_SUP, PS4_SUP, PM2_SUP, PP2; VAF 25%, de novo mosaik" "De novo" "-" "" "" "" "" "g.13567083C>T" "VCV000656203.6" "VUS (!)" "ACMG" "0000936025" "0" "90" "12" "13720042" "13720042" "subst" "0" "00006" "GRIN2B_000120" "g.13720042C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13567108C>T" "" "pathogenic (dominant)" "" "0000949912" "0" "50" "12" "13717213" "13717213" "subst" "4.06065E-6" "02327" "GRIN2B_000213" "g.13717213G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966826" "0" "50" "12" "13720022" "13720022" "subst" "0" "02327" "GRIN2B_000214" "g.13720022C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966827" "0" "50" "12" "13761664" "13761664" "subst" "0" "02327" "GRIN2B_000148" "g.13761664G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980161" "0" "30" "12" "13715699" "13715726" "dup" "0" "01804" "GRIN2B_000215" "g.13715699_13715726dup" "" "" "" "GRIN2B(NM_000834.5):c.4447_*19dup (p.(Ter1486=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980162" "0" "70" "12" "13715935" "13715939" "del" "0" "01804" "GRIN2B_000216" "g.13715935_13715939del" "" "" "" "GRIN2B(NM_000834.5):c.4235_4239del (p.(Ala1412GlyfsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980163" "0" "50" "12" "14018913" "14018913" "subst" "0" "02329" "GRIN2B_000217" "g.14018913T>C" "" "" "" "GRIN2B(NM_000834.5):c.230A>G (p.D77G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999855" "0" "30" "12" "13716094" "13716094" "subst" "8.12288E-6" "01804" "GRIN2B_000218" "g.13716094C>G" "" "" "" "GRIN2B(NM_000834.3):c.4078G>C (p.(Gly1360Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999856" "0" "30" "12" "13716226" "13716226" "subst" "0" "01804" "GRIN2B_000219" "g.13716226C>A" "" "" "" "GRIN2B(NM_000834.3):c.3946G>T (p.(Ala1316Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999857" "0" "30" "12" "13716360" "13716360" "subst" "2.84285E-5" "01804" "GRIN2B_000220" "g.13716360G>A" "" "" "" "GRIN2B(NM_000834.3):c.3812C>T (p.(Ala1271Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999858" "0" "50" "12" "13716511" "13716511" "subst" "0" "01804" "GRIN2B_000221" "g.13716511T>A" "" "" "" "GRIN2B(NM_000834.3):c.3661A>T (p.(Lys1221*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999859" "0" "30" "12" "13717046" "13717046" "subst" "0" "01804" "GRIN2B_000222" "g.13717046G>T" "" "" "" "GRIN2B(NM_000834.3):c.3126C>A (p.(Phe1042Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999860" "0" "50" "12" "13717203" "13717203" "subst" "0" "01804" "GRIN2B_000223" "g.13717203C>T" "" "" "" "GRIN2B(NM_000834.3):c.2969G>A (p.(Arg990Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999861" "0" "70" "12" "13720093" "13720093" "subst" "0" "01804" "GRIN2B_000224" "g.13720093A>G" "" "" "" "GRIN2B(NM_000834.3):c.2464T>C (p.(Phe822Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999862" "0" "30" "12" "13764671" "13764671" "subst" "0.000113737" "02325" "GRIN2B_000011" "g.13764671C>T" "" "" "" "GRIN2B(NM_000834.4):c.1768G>A (p.A590T), GRIN2B(NM_000834.5):c.1768G>A (p.A590T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999863" "0" "50" "12" "13906270" "13906270" "subst" "8.13154E-6" "01804" "GRIN2B_000225" "g.13906270G>T" "" "" "" "GRIN2B(NM_000834.3):c.991C>A (p.(Gln331Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999864" "0" "30" "12" "14018800" "14018800" "subst" "0" "01804" "GRIN2B_000226" "g.14018800T>A" "" "" "" "GRIN2B(NM_000834.3):c.343A>T (p.(Ile115Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014942" "0" "30" "12" "13717125" "13717125" "subst" "6.09152E-5" "02325" "GRIN2B_000227" "g.13717125C>T" "" "" "" "GRIN2B(NM_000834.5):c.3047G>A (p.R1016K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017448" "0" "70" "12" "13720024" "13720024" "subst" "0" "03544" "GRIN2B_000228" "g.13720024G>A" "" "" "" "" "" "De novo" "-" "rs1555103130" "0" "" "" "g.13567090G>A" "{CV:3378406}" "likely pathogenic (dominant)" "ACMG" "0001017674" "0" "70" "12" "13720043" "13720043" "subst" "0" "03544" "GRIN2B_000229" "g.13720043G>T" "" "" "" "" "" "De novo" "-" "rs3026160" "0" "" "" "g.13567109G>T" "{CV:3381750}" "likely pathogenic" "ACMG" "0001026141" "0" "90" "12" "13764767" "13764767" "subst" "0" "02329" "GRIN2B_000158" "g.13764767C>T" "" "" "" "GRIN2B(NM_000834.5):c.1672G>A (p.V558I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029475" "0" "70" "12" "13769422" "13769422" "subst" "0" "03779" "GRIN2B_000230" "g.13769422T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001029995" "0" "90" "12" "14019050" "14019050" "dup" "0" "03779" "GRIN2B_000177" "g.14019050dup" "" "" "" "" "" "Unknown" "" "rs398122823" "0" "" "" "" "" "pathogenic" "" "0001039111" "0" "50" "12" "13717147" "13717147" "subst" "0" "01804" "GRIN2B_000231" "g.13717147G>T" "" "" "" "GRIN2B(NM_000834.5):c.3025C>A (p.(Pro1009Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039112" "0" "90" "12" "13720042" "13720042" "subst" "0" "01804" "GRIN2B_000120" "g.13720042C>T" "" "" "" "GRIN2B(NM_000834.5):c.2515G>A (p.(Glu839Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039113" "0" "30" "12" "13761546" "13761546" "subst" "6.50888E-5" "02326" "GRIN2B_000232" "g.13761546G>A" "" "" "" "GRIN2B(NM_000834.4):c.2001C>T (p.S667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039114" "0" "30" "12" "13761696" "13761696" "subst" "0.000645774" "01804" "GRIN2B_000051" "g.13761696G>A" "" "" "" "GRIN2B(NM_000834.4):c.1851C>T (p.S617=), GRIN2B(NM_000834.5):c.1851C>T (p.(Ser617=), p.S617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039115" "0" "30" "12" "13769430" "13769430" "subst" "3.65637E-5" "01804" "GRIN2B_000233" "g.13769430G>A" "" "" "" "GRIN2B(NM_000834.5):c.1287C>T (p.(Cys429=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046900" "0" "70" "12" "13768464" "13768464" "subst" "0" "03544" "GRIN2B_000234" "g.13768464T>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.13615530T>A" "{CV:4083509}" "likely pathogenic" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRIN2B ## Count = 328 "{{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}}" "0000037980" "00008942" "90" "411" "1" "411" "1" "c.411+1G>A" "r.0" "p.0" "2i" "0000037981" "00008942" "10" "366" "0" "366" "0" "c.366C>G" "r.366c>g" "p.Pro122=" "2" "0000037982" "00008942" "90" "803" "0" "804" "0" "c.803_804del" "r.803_804del" "p.Thr268Serfs*15" "3" "0000037983" "00008942" "70" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Cys)" "10" "0000037984" "00008942" "90" "2360" "-2" "2360" "-2" "c.2360-2A>G" "r.0" "p.0" "11i" "0000037985" "00008942" "10" "366" "0" "366" "0" "c.366C>G" "r.366c>g" "p.Pro122=" "2" "0000037986" "00008942" "30" "117" "0" "117" "0" "c.117C>T" "r.(=)" "p.(=)" "2" "0000037987" "00008942" "30" "189" "0" "189" "0" "c.189C>T" "r.(=)" "p.(=)" "2" "0000037988" "00008942" "30" "228" "0" "228" "0" "c.228C>T" "r.(=)" "p.(=)" "2" "0000037989" "00008942" "30" "1126" "-12" "1126" "-12" "c.1126-12A>G" "r.(=)" "p.(=)" "4i" "0000037990" "00008942" "30" "1560" "0" "1560" "0" "c.1560G>A" "r.(=)" "p.(=)" "7" "0000037991" "00008942" "30" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Ala590Thr)" "8" "0000037992" "00008942" "30" "1780" "9" "1780" "9" "c.1780+9G>A" "r.(=)" "p.(=)" "8i" "0000037993" "00008942" "30" "2599" "-29" "2599" "-29" "c.2599-29T>C" "r.(=)" "p.(=)" "12i" "0000037994" "00008942" "30" "2628" "0" "2628" "0" "c.2628G>A" "r.(=)" "p.(=)" "13" "0000037995" "00008942" "30" "3552" "0" "3552" "0" "c.3552C>T" "r.(=)" "p.(=)" "13" "0000037996" "00008942" "30" "3552" "0" "3552" "0" "c.3552C>T" "r.(=)" "p.(=)" "13" "0000037997" "00008942" "30" "3799" "0" "3799" "0" "c.3799G>T" "r.(?)" "p.(Ala1267Ser)" "13" "0000037998" "00008942" "30" "3993" "0" "3993" "0" "c.3993G>A" "r.(?)" "p.(Met1331Ile)" "13" "0000037999" "00008942" "30" "4525" "0" "4525" "0" "c.*70G>A" "r.(=)" "p.(=)" "13" "0000038000" "00008942" "30" "4843" "0" "4843" "0" "c.*388C>T" "r.(=)" "p.(=)" "13" "0000038001" "00008942" "30" "5066" "0" "5066" "0" "c.*611T>C" "r.(=)" "p.(=)" "13" "0000038002" "00008942" "30" "1116" "0" "1116" "0" "c.1116G>A" "r.(=)" "p.(=)" "13" "0000046795" "00008942" "50" "3296" "0" "3297" "0" "c.3296_3297del" "r.(?)" "p.(Arg1099fs)" "" "0000067270" "00008942" "70" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "10" "0000079550" "00008942" "00" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000130190" "00008942" "70" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(Ser246*)" "" "0000130196" "00008942" "70" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000188127" "00008942" "00" "1349" "0" "1349" "0" "c.1349C>T" "r.(?)" "p.(Pro450Leu)" "" "0000188221" "00008942" "00" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "" "0000188238" "00008942" "00" "3413" "0" "3413" "0" "c.3413G>A" "r.(?)" "p.(Arg1138Gln)" "" "0000188241" "00008942" "00" "3137" "0" "3137" "0" "c.3137G>T" "r.(?)" "p.(Ser1046Ile)" "" "0000188279" "00008942" "00" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "" "0000249822" "00008942" "50" "1979" "0" "1979" "0" "c.1979T>C" "r.(?)" "p.(Val660Ala)" "" "0000250823" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000251498" "00008942" "10" "2011" "-197" "2011" "-197" "c.2011-197T>C" "r.(=)" "p.(=)" "" "0000251499" "00008942" "10" "1781" "-64" "1781" "-64" "c.1781-64del" "r.(=)" "p.(=)" "" "0000255345" "00008942" "70" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000281157" "00008942" "10" "1125" "20" "1125" "20" "c.1125+20A>G" "r.(=)" "p.(=)" "" "0000281158" "00008942" "10" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Ser555=)" "" "0000281159" "00008942" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Ser617=)" "" "0000281160" "00008942" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Thr76=)" "" "0000281161" "00008942" "30" "2478" "0" "2478" "0" "c.2478G>A" "r.(?)" "p.(Gly826=)" "" "0000281162" "00008942" "30" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Ala827=)" "" "0000281163" "00008942" "10" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(Thr888=)" "" "0000281164" "00008942" "30" "3285" "0" "3285" "0" "c.3285G>A" "r.(?)" "p.(Ser1095=)" "" "0000281165" "00008942" "30" "3498" "0" "3498" "0" "c.3498C>T" "r.(?)" "p.(Ser1166=)" "" "0000281166" "00008942" "10" "3534" "0" "3534" "0" "c.3534C>T" "r.(?)" "p.(His1178=)" "" "0000281167" "00008942" "10" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Pro122=)" "" "0000281168" "00008942" "50" "3958" "0" "3958" "0" "c.3958C>T" "r.(?)" "p.(Arg1320Cys)" "" "0000281169" "00008942" "50" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Gly251Asp)" "" "0000283385" "00008942" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Ter)" "" "0000283386" "00008942" "70" "1598" "0" "1598" "0" "c.1598G>T" "r.(?)" "p.(Gly533Val)" "" "0000283387" "00008942" "90" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Cys)" "" "0000285007" "00008942" "10" "1126" "-12" "1126" "-12" "c.1126-12A>G" "r.(=)" "p.(=)" "" "0000285008" "00008942" "10" "1329" "-140" "1329" "-140" "c.1329-140G>A" "r.(=)" "p.(=)" "" "0000285009" "00008942" "10" "15" "0" "15" "0" "c.15G>A" "r.(?)" "p.(Ala5=)" "" "0000285010" "00008942" "10" "1655" "-71" "1655" "-71" "c.1655-71A>C" "r.(=)" "p.(=)" "" "0000285011" "00008942" "10" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Ser555=)" "" "0000285012" "00008942" "30" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Ala590Thr)" "" "0000285013" "00008942" "10" "1781" "-132" "1781" "-132" "c.1781-132C>T" "r.(=)" "p.(=)" "" "0000285014" "00008942" "10" "1781" "-157" "1781" "-156" "c.1781-157_1781-156del" "r.(=)" "p.(=)" "" "0000285015" "00008942" "70" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Ala639Val)" "" "0000285016" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000285017" "00008942" "70" "2387" "0" "2387" "0" "c.2387G>T" "r.(?)" "p.(Trp796Leu)" "" "0000285018" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000285019" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" "" "0000285020" "00008942" "10" "3498" "0" "3498" "0" "c.3498C>T" "r.(?)" "p.(Ser1166=)" "" "0000285021" "00008942" "30" "3807" "0" "3807" "0" "c.3807A>T" "r.(?)" "p.(Pro1269=)" "" "0000285022" "00008942" "10" "4218" "0" "4218" "0" "c.4218C>T" "r.(?)" "p.(Phe1406=)" "" "0000288778" "00008942" "10" "-18" "-10" "-18" "-10" "c.-18-10G>C" "r.(=)" "p.(=)" "" "0000288779" "00008942" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Ser617=)" "" "0000288780" "00008942" "90" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Met706Val)" "" "0000288781" "00008942" "30" "2172" "-6" "2172" "-6" "c.2172-6G>A" "r.(=)" "p.(=)" "" "0000288782" "00008942" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Thr76=)" "" "0000288783" "00008942" "30" "3799" "0" "3799" "0" "c.3799G>T" "r.(?)" "p.(Ala1267Ser)" "" "0000288784" "00008942" "30" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Ala1437=)" "" "0000288785" "00008942" "90" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Trp197Ter)" "" "0000322684" "00008942" "50" "4273" "0" "4273" "0" "c.4273G>A" "r.(?)" "p.(Val1425Ile)" "" "0000322685" "00008942" "50" "3692" "0" "3692" "0" "c.3692G>A" "r.(?)" "p.(Gly1231Asp)" "" "0000322686" "00008942" "50" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" "" "0000322688" "00008942" "50" "1776" "0" "1776" "0" "c.1776del" "r.(?)" "p.(Arg593GlufsTer58)" "" "0000322689" "00008942" "70" "1755" "0" "1755" "0" "c.1755del" "r.(?)" "p.(Tyr585Ter)" "" "0000322690" "00008942" "50" "1660" "0" "1660" "0" "c.1660T>A" "r.(?)" "p.(Phe554Ile)" "" "0000337194" "00008942" "10" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Ile168=)" "" "0000339104" "00008942" "70" "1628" "0" "1628" "0" "c.1628G>C" "r.(?)" "p.(Gly543Ala)" "" "0000341029" "00008942" "10" "2664" "0" "2664" "0" "c.2664C>T" "r.(?)" "p.(Thr888=)" "" "0000341539" "00008942" "50" "1955" "0" "1955" "0" "c.1955C>A" "r.(?)" "p.(Ala652Asp)" "" "0000343420" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" "" "0000344460" "00008942" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Cys7Tyr)" "" "0000345682" "00008942" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Gly128Arg)" "" "0000346284" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Gly820Glu)" "" "0000347889" "00008942" "70" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Met706Val)" "" "0000349158" "00008942" "70" "2258" "0" "2258" "0" "c.2258G>A" "r.(?)" "p.(Ser753Asn)" "" "0000349621" "00008942" "70" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Thr750Ile)" "" "0000350167" "00008942" "90" "1977" "0" "1977" "0" "c.1977T>A" "r.(?)" "p.(Tyr659Ter)" "" "0000350900" "00008942" "10" "4197" "0" "4197" "0" "c.4197T>C" "r.(?)" "p.(His1399=)" "" "0000350901" "00008942" "10" "3534" "0" "3534" "0" "c.3534C>T" "r.(?)" "p.(His1178=)" "" "0000350902" "00008942" "10" "2514" "0" "2514" "0" "c.2514C>T" "r.(?)" "p.(Cys838=)" "" "0000350904" "00008942" "10" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(Ser555=)" "" "0000350910" "00008942" "10" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Pro122=)" "" "0000350911" "00008942" "10" "-15" "0" "-15" "0" "c.-15G>A" "r.(?)" "p.(=)" "" "0000369300" "00008942" "70" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Gly826Glu)" "" "0000404698" "00008942" "90" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.(Gly799Ser)" "4" "0000407949" "00008942" "70" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Pro553Leu)" "" "0000547268" "00008942" "50" "4382" "0" "4382" "0" "c.4382del" "r.(?)" "p.(Asn1461ThrfsTer26)" "" "0000547270" "00008942" "70" "2776" "0" "2776" "0" "c.2776C>T" "r.(?)" "p.(Arg926Ter)" "" "0000547271" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000547272" "00008942" "50" "2438" "0" "2438" "0" "c.2438T>C" "r.(?)" "p.(Leu813Pro)" "" "0000547273" "00008942" "30" "2172" "0" "2172" "0" "c.2172G>T" "r.(?)" "p.(Gly724=)" "" "0000547274" "00008942" "30" "2172" "0" "2172" "0" "c.2172G>T" "r.(?)" "p.(Gly724=)" "" "0000547275" "00008942" "90" "2171" "1" "2171" "1" "c.2171+1G>A" "r.spl?" "p.?" "" "0000547276" "00008942" "50" "2126" "0" "2126" "0" "c.2126T>C" "r.(?)" "p.(Phe709Ser)" "" "0000547277" "00008942" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Asp524Asn)" "" "0000547278" "00008942" "70" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519Ter)" "" "0000547279" "00008942" "70" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Leu513Phe)" "" "0000547280" "00008942" "70" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Gly459Arg)" "" "0000547281" "00008942" "70" "284" "0" "284" "0" "c.284del" "r.(?)" "p.(Gln95ArgfsTer38)" "" "0000547282" "00008942" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Cys86Tyr)" "" "0000547283" "00008942" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "" "0000547284" "00008942" "30" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Glu47Gly)" "" "0000577987" "00008942" "70" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Gly820Arg)" "" "0000592561" "00008942" "70" "2845" "0" "2845" "0" "c.2845T>C" "r.(?)" "p.(Tyr949His)" "" "0000613977" "00008942" "50" "3721" "0" "3721" "0" "c.3721C>T" "r.(?)" "p.(Arg1241Trp)" "" "0000613978" "00008942" "50" "2496" "0" "2496" "0" "c.2496C>G" "r.(?)" "p.(Ser832Arg)" "" "0000613979" "00008942" "50" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Met307Val)" "" "0000613980" "00008942" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Leu120=)" "" "0000648504" "00008942" "30" "5022" "0" "5022" "0" "c.*567A>C" "r.(=)" "p.(=)" "" "0000648505" "00008942" "50" "4797" "0" "4797" "0" "c.*342C>T" "r.(=)" "p.(=)" "" "0000657047" "00008942" "70" "2303" "0" "2303" "0" "c.2303A>C" "r.(?)" "p.(Lys768Thr)" "" "0000657049" "00008942" "90" "1659" "0" "1659" "0" "c.1659dup" "r.(?)" "p.(Phe554IlefsTer4)" "" "0000657050" "00008942" "50" "1590" "0" "1590" "0" "c.1590A>G" "r.(?)" "p.(Ile530Met)" "" "0000657051" "00008942" "30" "542" "0" "542" "0" "c.542A>C" "r.(?)" "p.(Asp181Ala)" "" "0000657052" "00008942" "50" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Met134Thr)" "" "0000667300" "00008942" "70" "2459" "0" "2459" "0" "c.2459G>A" "r.(?)" "p.(Gly820Glu)" "" "0000667522" "00008942" "90" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Ala639Val)" "" "0000669155" "00008942" "30" "5022" "0" "5022" "0" "c.*567A>C" "r.(=)" "p.(=)" "" "0000669156" "00008942" "50" "4797" "0" "4797" "0" "c.*342C>T" "r.(=)" "p.(=)" "" "0000679442" "00008942" "50" "3985" "0" "3985" "0" "c.3985C>G" "r.(?)" "p.(Arg1329Gly)" "" "0000679443" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" "" "0000679444" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000679445" "00008942" "30" "2172" "-6" "2172" "-6" "c.2172-6G>A" "r.(=)" "p.(=)" "" "0000683313" "00008942" "70" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "" "0000683314" "00008942" "70" "1088" "0" "1088" "0" "c.1088del" "r.(?)" "p.(Val363Glyfs*2)" "" "0000687377" "00008942" "90" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Arg)" "" "0000687378" "00008942" "90" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Ile150Val)" "" "0000687379" "00008942" "90" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Glu413Gly)" "" "0000687380" "00008942" "90" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(Cys436Arg)" "" "0000687381" "00008942" "90" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Cys456Tyr)" "" "0000687382" "00008942" "90" "1382" "0" "1382" "0" "c.1382G>T" "r.(?)" "p.(Cys461Phe)" "" "0000687383" "00008942" "90" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Thr514Ala)" "" "0000687384" "00008942" "90" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Asn516Ser)" "" "0000687385" "00008942" "90" "1573" "0" "1573" "0" "c.1573T>G" "r.(?)" "p.(Phe525Val)" "" "0000687386" "00008942" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000687387" "00008942" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000687388" "00008942" "90" "1623" "0" "1623" "0" "c.1623C>G" "r.(?)" "p.(Ser541Arg)" "" "0000687389" "00008942" "90" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Ser555Ile)" "" "0000687390" "00008942" "90" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Val558Ile)" "" "0000687391" "00008942" "90" "1821" "0" "1821" "0" "c.1821G>T" "r.(?)" "p.(Trp607Cys)" "" "0000687392" "00008942" "90" "1832" "0" "1832" "0" "c.1832G>T" "r.(?)" "p.(Gly611Val)" "" "0000687393" "00008942" "90" "1844" "0" "1844" "0" "c.1844A>T" "r.(?)" "p.(Asn615Ile)" "" "0000687394" "00008942" "90" "1845" "0" "1845" "0" "c.1845C>G" "r.(?)" "p.(Asn615Lys)" "" "0000687395" "00008942" "90" "1848" "0" "1848" "0" "c.1848C>G" "r.(?)" "p.(Asn616Lys)" "" "0000687396" "00008942" "90" "1853" "0" "1853" "0" "c.1853T>G" "r.(?)" "p.(Val618Gly)" "" "0000687397" "00008942" "90" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Val620Met)" "" "0000687398" "00008942" "90" "1883" "0" "1883" "0" "c.1883C>G" "r.(?)" "p.(Ser628Cys)" "" "0000687399" "00008942" "90" "1883" "0" "1883" "0" "c.1883C>T" "r.(?)" "p.(Ser628Phe)" "" "0000687400" "00008942" "90" "1906" "0" "1906" "0" "c.1906G>C" "r.(?)" "p.(Ala636Pro)" "" "0000687401" "00008942" "90" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ala636Val)" "" "0000687402" "00008942" "90" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Ala639Val)" "" "0000687403" "00008942" "90" "1963" "0" "1963" "0" "c.1963A>T" "r.(?)" "p.(Ile655Phe)" "" "0000687404" "00008942" "90" "1970" "0" "1970" "0" "c.1970A>G" "r.(?)" "p.(Glu657Gly)" "" "0000687405" "00008942" "90" "1985" "0" "1985" "0" "c.1985A>C" "r.(?)" "p.(Gln662Pro)" "" "0000687406" "00008942" "90" "2002" "0" "2002" "0" "c.2002G>T" "r.(?)" "p.(Asp668Tyr)" "" "0000687407" "00008942" "90" "2060" "0" "2060" "0" "c.2060C>G" "r.(?)" "p.(Pro687Arg)" "" "0000687408" "00008942" "90" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Pro687Leu)" "" "0000687409" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687410" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687411" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687412" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687413" "00008942" "90" "2079" "0" "2079" "0" "c.2079A>T" "r.(?)" "p.(Arg693Ser)" "" "0000687414" "00008942" "90" "2084" "0" "2084" "0" "c.2084T>C" "r.(?)" "p.(Ile695Thr)" "" "0000687415" "00008942" "90" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Arg696His)" "" "0000687416" "00008942" "90" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Arg696His)" "" "0000687417" "00008942" "90" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Met706Val)" "" "0000687418" "00008942" "90" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Ala734Val)" "" "0000687419" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000687420" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000687421" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000687422" "00008942" "90" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Glu807Lys)" "" "0000687423" "00008942" "90" "2430" "0" "2430" "0" "c.2430C>A" "r.(?)" "p.(Ser810Arg)" "" "0000687424" "00008942" "90" "2429" "0" "2429" "0" "c.2429G>A" "r.(?)" "p.(Ser810Asn)" "" "0000687425" "00008942" "90" "2452" "0" "2452" "0" "c.2452A>C" "r.(?)" "p.(Met818Leu)" "" "0000687426" "00008942" "90" "2453" "0" "2453" "0" "c.2453T>C" "r.(?)" "p.(Met818Thr)" "" "0000687427" "00008942" "90" "2455" "0" "2455" "0" "c.2455G>A" "r.(?)" "p.(Ala819Thr)" "" "0000687428" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687429" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687430" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687431" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687432" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687433" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>T" "r.(?)" "p.(Gly820Val)" "" "0000687434" "00008942" "90" "2471" "0" "2471" "0" "c.2471T>G" "r.(?)" "p.(Met824Arg)" "" "0000687435" "00008942" "90" "2473" "0" "2473" "0" "c.2473T>G" "r.(?)" "p.(Leu825Val)" "" "0000687436" "00008942" "90" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Gly826Glu)" "" "0000687437" "00008942" "70" "2926" "0" "2928" "0" "c.2926_2928del" "r.(?)" "p.(Lys976del)" "" "0000687438" "00008942" "70" "3332" "0" "3332" "0" "c.3332G>A" "r.(?)" "p.(Arg1111His)" "" "0000687439" "00008942" "70" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Gly533Asp)" "" "0000687553" "00008942" "90" "99" "0" "99" "0" "c.99dup" "r.(?)" "p.(Ser34Glnfs*25)" "" "0000687554" "00008942" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Gln180*)" "" "0000687555" "00008942" "90" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(Ser246*)" "" "0000687556" "00008942" "90" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Trp373*)" "" "0000687557" "00008942" "90" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Trp559*)" "" "0000687558" "00008942" "90" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Gln656*)" "" "0000687559" "00008942" "90" "2131" "0" "2131" "0" "c.2131C>T" "r.(?)" "p.(Gln711*)" "" "0000687560" "00008942" "90" "2172" "-2" "2172" "-2" "c.2172-2A>G" "r.spl" "p.?" "" "0000687561" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687562" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687563" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687564" "00008942" "90" "-18" "-20840" "411" "32732" "c.(?_-18-20840)_(411+32732_?)del" "r.?" "p.?" "1i_2i" "0000687565" "00008942" "90" "0" "0" "0" "0" "c.(?_2010+11766)_*1307{0}" "r.?" "p.?" "9i_13_" "0000687566" "00008942" "90" "1011" "-25" "2130" "0" "c.(?_1011-25)_(2130_?)del" "r.?" "p.?" "3i_10_" "0000687567" "00008942" "90" "0" "0" "0" "0" "c.1125+14389_*1307{0}" "r.?" "p.?" "4i_13_" "0000687568" "00008942" "90" "0" "0" "0" "0" "c.412-48969_*1307{1}" "r.?" "p.?" "2i_13_" "0000687569" "00008942" "90" "2589" "0" "2589" "0" "c.2589del" "r.(?)" "p.(Ile864Serfs*20)" "" "0000687570" "00008942" "90" "3012" "0" "3012" "0" "c.3012C>G" "r.(?)" "p.(Tyr1004*)" "" "0000687571" "00008942" "90" "3295" "0" "3295" "0" "c.3295del" "r.(?)" "p.(Arg1099Alafs*51)" "" "0000687668" "00008942" "90" "1657" "0" "1657" "0" "c.1657C>A" "r.(?)" "p.(Pro553Thr)" "" "0000687670" "00008942" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Glu839Lys)" "" "0000687671" "00008942" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687672" "00008942" "90" "1368" "0" "1368" "0" "c.1368C>A" "r.(?)" "p.(Cys456*)" "" "0000687676" "00008942" "90" "2455" "0" "2455" "0" "c.2455G>A" "r.(?)" "p.(Ala819Thr)" "" "0000687678" "00008942" "90" "1776" "0" "1776" "0" "c.1776del" "r.(?)" "p.(Arg593Glufs*58)" "" "0000687679" "00008942" "90" "2530" "0" "2530" "0" "c.2530T>C" "r.(?)" "p.(Trp844Arg)" "" "0000687680" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687681" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687682" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "" "0000687683" "00008942" "90" "1755" "0" "1755" "0" "c.1755del" "r.(?)" "p.(Tyr585*)" "" "0000687684" "00008942" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687686" "00008942" "90" "1820" "0" "1820" "0" "c.1820G>C" "r.(?)" "p.(Trp607Ser)" "" "0000687689" "00008942" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687690" "00008942" "90" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Leu551Ser)" "" "0000687691" "00008942" "90" "2086" "0" "2086" "0" "c.2086C>A" "r.(?)" "p.(Arg696Ser)" "" "0000687692" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687697" "00008942" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687702" "00008942" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000687703" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687704" "00008942" "90" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Ile641Thr)" "" "0000687705" "00008942" "90" "2332" "0" "2332" "0" "c.2332C>A" "r.(?)" "p.Leu778Ile)" "" "0000687707" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000687708" "00008942" "90" "2065" "0" "2065" "0" "c.2065G>A" "r.(?)" "p.(Gly689Ser)" "" "0000687709" "00008942" "90" "2452" "0" "2452" "0" "c.2452A>C" "r.(?)" "p.(Met818Leu)" "" "0000687710" "00008942" "90" "2855" "0" "2855" "0" "c.2855C>T" "r.(?)" "p.(Pro952Leu)" "" "0000687711" "00008942" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Glu839Lys)" "" "0000691298" "00008942" "30" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Ala827=)" "" "0000691299" "00008942" "90" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Ile751Thr)" "" "0000691300" "00008942" "70" "2045" "0" "2045" "0" "c.2045G>A" "r.(?)" "p.(Arg682His)" "" "0000723940" "00008942" "30" "4242" "0" "4242" "0" "c.4242G>A" "r.(?)" "p.(Ala1414=)" "" "0000723941" "00008942" "30" "3981" "0" "3981" "0" "c.3981G>A" "r.(?)" "p.(Lys1327=)" "" "0000723942" "00008942" "30" "3813" "0" "3813" "0" "c.3813G>A" "r.(?)" "p.(Ala1271=)" "" "0000723943" "00008942" "30" "2628" "0" "2628" "0" "c.2628G>A" "r.(?)" "p.(Ala876=)" "" "0000723944" "00008942" "70" "2453" "0" "2453" "0" "c.2453T>C" "r.(?)" "p.(Met818Thr)" "" "0000723945" "00008942" "70" "2087" "0" "2087" "0" "c.2087G>T" "r.(?)" "p.(Arg696Leu)" "" "0000723946" "00008942" "70" "1583" "0" "1583" "0" "c.1583C>T" "r.(?)" "p.(Pro528Leu)" "" "0000723947" "00008942" "30" "812" "0" "812" "0" "c.812C>T" "r.(?)" "p.(Ala271Val)" "" "0000723948" "00008942" "30" "465" "0" "465" "0" "c.465C>A" "r.(?)" "p.(Ser155=)" "" "0000723949" "00008942" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Ile108=)" "" "0000785873" "00008942" "90" "1822" "0" "1830" "0" "c.1822_1830del" "r.(?)" "p.(Leu608_Trp610del)" "10" "0000805627" "00008942" "30" "4101" "0" "4101" "0" "c.4101C>T" "r.(?)" "p.(Pro1367=)" "" "0000805628" "00008942" "30" "3807" "0" "3807" "0" "c.3807A>T" "r.(?)" "p.(Pro1269=)" "" "0000805629" "00008942" "50" "3389" "0" "3389" "0" "c.3389G>A" "r.(?)" "p.(Arg1130Gln)" "" "0000805630" "00008942" "50" "2537" "0" "2537" "0" "c.2537T>G" "r.(?)" "p.(Phe846Cys)" "" "0000805631" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000805632" "00008942" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Lys11=)" "" "0000853332" "00008942" "50" "2066" "0" "2066" "0" "c.2066G>C" "r.(?)" "p.(Gly689Ala)" "" "0000862917" "00008942" "50" "3750" "0" "3750" "0" "c.3750C>A" "r.(?)" "p.(Asn1250Lys)" "" "0000862918" "00008942" "70" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Met706Val)" "" "0000862919" "00008942" "90" "1930" "0" "1930" "0" "c.1930del" "r.(?)" "p.(Ala644Profs*7)" "" "0000862920" "00008942" "30" "1780" "9" "1780" "9" "c.1780+9G>A" "r.(=)" "p.(=)" "" "0000862921" "00008942" "90" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0000881126" "00008942" "90" "2459" "0" "2459" "0" "c.2459G>C" "r.(?)" "p.(Gly820Ala)" "" "0000881249" "00008942" "90" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Ile)" "" "0000890436" "00008942" "50" "3239" "0" "3239" "0" "c.3239G>A" "r.(?)" "p.(Arg1080Lys)" "" "0000890437" "00008942" "50" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Cys)" "" "0000890438" "00008942" "30" "2172" "0" "2172" "0" "c.2172G>T" "r.(?)" "p.(Gly724=)" "" "0000890439" "00008942" "50" "2099" "0" "2099" "0" "c.2099C>G" "r.(?)" "p.(Ala700Gly)" "" "0000890440" "00008942" "70" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393*)" "" "0000913798" "00008942" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" "" "0000918156" "00008942" "70" "2437" "0" "2437" "0" "c.2437C>G" "r.(?)" "p.(Leu813Val)" "" "0000918157" "00008942" "70" "2438" "0" "2438" "0" "c.2438T>C" "r.(?)" "p.(Leu813Pro)" "" "0000918158" "00008942" "90" "2453" "0" "2453" "0" "c.2453T>C" "r.(?)" "p.(Met818Thr)" "" "0000918168" "00008942" "90" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Ile150Val)" "" "0000918173" "00008942" "53" "2011" "-5" "2011" "-4" "c.2011-5_2011-4del" "r.spl?" "p.(=)" "" "0000918174" "00008942" "90" "1125" "1" "1126" "-1" "c.(1125+1_1126-1)delinsN[?]" "r.?" "p.?" "4i" "0000918175" "00008942" "90" "411" "1" "411" "50000" "c.(411+1_411+50000)delinsN[?]" "r.?" "p.?" "2i" "0000925593" "00008942" "50" "3490" "0" "3490" "0" "c.3490C>T" "r.(?)" "p.(Arg1164Cys)" "" "0000925594" "00008942" "50" "162" "0" "162" "0" "c.162C>G" "r.(?)" "p.(His54Gln)" "" "0000927632" "00008942" "70" "3667" "0" "3673" "0" "c.3667_3673delinsGAGTAGG" "r.(?)" "p.(His1223delinsGluTer)" "" "0000930055" "00008942" "70" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Gly820Arg)" "" "0000935200" "00008942" "50" "2540" "0" "2540" "0" "c.2540G>A" "r.(?)" "p.(Arg847Gln)" "" "0000936025" "00008942" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Glu839Lys)" "" "0000949912" "00008942" "50" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(His987Tyr)" "" "0000966826" "00008942" "50" "2535" "0" "2535" "0" "c.2535G>C" "r.(?)" "p.(Gln845His)" "" "0000966827" "00008942" "50" "1883" "0" "1883" "0" "c.1883C>G" "r.(?)" "p.(Ser628Cys)" "" "0000980161" "00008942" "30" "4447" "0" "4474" "0" "c.4447_*19dup" "r.(?)" "p.(=)" "" "0000980162" "00008942" "70" "4235" "0" "4239" "0" "c.4235_4239del" "r.(?)" "p.(Ala1412Glyfs*45)" "" "0000980163" "00008942" "50" "230" "0" "230" "0" "c.230A>G" "r.(?)" "p.(Asp77Gly)" "" "0000999855" "00008942" "30" "4078" "0" "4078" "0" "c.4078G>C" "r.(?)" "p.(Gly1360Arg)" "" "0000999856" "00008942" "30" "3946" "0" "3946" "0" "c.3946G>T" "r.(?)" "p.(Ala1316Ser)" "" "0000999857" "00008942" "30" "3812" "0" "3812" "0" "c.3812C>T" "r.(?)" "p.(Ala1271Val)" "" "0000999858" "00008942" "50" "3661" "0" "3661" "0" "c.3661A>T" "r.(?)" "p.(Lys1221*)" "" "0000999859" "00008942" "30" "3126" "0" "3126" "0" "c.3126C>A" "r.(?)" "p.(Phe1042Leu)" "" "0000999860" "00008942" "50" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Arg990Gln)" "" "0000999861" "00008942" "70" "2464" "0" "2464" "0" "c.2464T>C" "r.(?)" "p.(Phe822Leu)" "" "0000999862" "00008942" "30" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Ala590Thr)" "" "0000999863" "00008942" "50" "991" "0" "991" "0" "c.991C>A" "r.(?)" "p.(Gln331Lys)" "" "0000999864" "00008942" "30" "343" "0" "343" "0" "c.343A>T" "r.(?)" "p.(Ile115Phe)" "" "0001014942" "00008942" "30" "3047" "0" "3047" "0" "c.3047G>A" "r.(?)" "p.(Arg1016Lys)" "" "0001017448" "00008942" "70" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Gln845*)" "13" "0001017674" "00008942" "70" "2514" "0" "2514" "0" "c.2514C>A" "r.(?)" "p.(Cys838*)" "13" "0001026141" "00008942" "90" "1672" "0" "1672" "0" "c.1672G>A" "r.(?)" "p.(Val558Ile)" "" "0001029475" "00008942" "70" "1295" "0" "1295" "0" "c.1295A>T" "r.(?)" "p.(Asn432Ile)" "" "0001029995" "00008942" "90" "99" "0" "99" "0" "c.99dup" "r.(?)" "p.(Ser34GlnfsTer25)" "" "0001039111" "00008942" "50" "3025" "0" "3025" "0" "c.3025C>A" "r.(?)" "p.(Pro1009Thr)" "" "0001039112" "00008942" "90" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Glu839Lys)" "" "0001039113" "00008942" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(=)" "" "0001039114" "00008942" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Ser617=)" "" "0001039115" "00008942" "30" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(=)" "" "0001046900" "00008942" "70" "1463" "0" "1463" "0" "c.1463A>T" "r.(?)" "p.(Lys488Met)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 154 "{{screeningid}}" "{{variantid}}" "0000017812" "0000037980" "0000017812" "0000037981" "0000017813" "0000037982" "0000017814" "0000037983" "0000017815" "0000037984" "0000017815" "0000037985" "0000024237" "0000046795" "0000039647" "0000067270" "0000050570" "0000079550" "0000081104" "0000130190" "0000081110" "0000130196" "0000117282" "0000188127" "0000117376" "0000188221" "0000117393" "0000188238" "0000117396" "0000188241" "0000117434" "0000188279" "0000165575" "0000369300" "0000181062" "0000404698" "0000184011" "0000407949" "0000249257" "0000577987" "0000262280" "0000592561" "0000291815" "0000648504" "0000291816" "0000648505" "0000303898" "0000667300" "0000304124" "0000667522" "0000305467" "0000669155" "0000305468" "0000669156" "0000308879" "0000683313" "0000308880" "0000683314" "0000311826" "0000687377" "0000311827" "0000687378" "0000311828" "0000687379" "0000311829" "0000687380" "0000311830" "0000687381" "0000311831" "0000687382" "0000311832" "0000687383" "0000311833" "0000687384" "0000311834" "0000687385" "0000311835" "0000687386" "0000311836" "0000687387" "0000311837" "0000687388" "0000311838" "0000687389" "0000311839" "0000687390" "0000311840" "0000687391" "0000311841" "0000687392" "0000311842" "0000687393" "0000311843" "0000687394" "0000311844" "0000687395" "0000311845" "0000687396" "0000311846" "0000687397" "0000311847" "0000687398" "0000311848" "0000687399" "0000311849" "0000687400" "0000311850" "0000687401" "0000311851" "0000687402" "0000311852" "0000687403" "0000311853" "0000687404" "0000311854" "0000687405" "0000311855" "0000687406" "0000311856" "0000687407" "0000311857" "0000687408" "0000311858" "0000687409" "0000311859" "0000687410" "0000311860" "0000687411" "0000311861" "0000687412" "0000311862" "0000687413" "0000311863" "0000687414" "0000311864" "0000687415" "0000311865" "0000687416" "0000311866" "0000687417" "0000311867" "0000687418" "0000311868" "0000687419" "0000311869" "0000687420" "0000311870" "0000687421" "0000311871" "0000687422" "0000311872" "0000687423" "0000311873" "0000687424" "0000311874" "0000687425" "0000311875" "0000687426" "0000311876" "0000687427" "0000311877" "0000687428" "0000311878" "0000687429" "0000311879" "0000687430" "0000311880" "0000687431" "0000311881" "0000687432" "0000311882" "0000687433" "0000311883" "0000687434" "0000311884" "0000687435" "0000311885" "0000687436" "0000311886" "0000687437" "0000311887" "0000687438" "0000311888" "0000687439" "0000312002" "0000687553" "0000312003" "0000687554" "0000312004" "0000687555" "0000312005" "0000687556" "0000312006" "0000687557" "0000312007" "0000687558" "0000312008" "0000687559" "0000312009" "0000687560" "0000312010" "0000687561" "0000312011" "0000687562" "0000312012" "0000687563" "0000312013" "0000687564" "0000312014" "0000687565" "0000312015" "0000687566" "0000312016" "0000687567" "0000312017" "0000687568" "0000312018" "0000687569" "0000312019" "0000687570" "0000312020" "0000687571" "0000312117" "0000687668" "0000312119" "0000687670" "0000312120" "0000687671" "0000312121" "0000687672" "0000312125" "0000687676" "0000312127" "0000687678" "0000312128" "0000687679" "0000312129" "0000687680" "0000312130" "0000687681" "0000312131" "0000687682" "0000312132" "0000687683" "0000312133" "0000687684" "0000312135" "0000687686" "0000312138" "0000687689" "0000312139" "0000687690" "0000312140" "0000687691" "0000312141" "0000687692" "0000312146" "0000687697" "0000312151" "0000687702" "0000312152" "0000687703" "0000312153" "0000687704" "0000312154" "0000687705" "0000312156" "0000687707" "0000312157" "0000687708" "0000312158" "0000687709" "0000312159" "0000687710" "0000312160" "0000687711" "0000374958" "0000785873" "0000420767" "0000881126" "0000420890" "0000881249" "0000432616" "0000918156" "0000432617" "0000918157" "0000432618" "0000918158" "0000432626" "0000918168" "0000432628" "0000918173" "0000432629" "0000918174" "0000432630" "0000918175" "0000436598" "0000927632" "0000439473" "0000935200" "0000439896" "0000936025" "0000459427" "0001017448" "0000459603" "0001017674" "0000467689" "0001046900"