### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN2A) # 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}}" "SCN2A" "sodium channel, voltage-gated, type II, alpha subunit" "2" "q24.3" "unknown" "NG_008143.1" "UD_132119062188" "" "https://www.LOVD.nl/SCN2A" "" "1" "10588" "6326" "182390" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/SCN2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-06 09:12:41" "00006" "2026-01-03 11:55:14" ## 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}}" "00018517" "SCN2A" "transcript variant 1" "002" "NM_021007.2" "" "NP_066287.2" "" "" "" "-356" "8504" "6018" "166150341" "166248820" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "02700" "BFIS3" "seizures, infantile, benign, familial, type 2 (BFIS-3)" "AD" "607745" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03404" "DEE11" "encephalopathy, developmental and epileptic, type 11" "AD" "613721" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-04-07 09:19:02" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "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" "05760" "EA" "ataxia, episodic (EA)" "" "" "" "" "" "00006" "2020-06-05 18:59:48" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SCN2A" "02700" "SCN2A" "03404" ## Individuals ## Do not remove or alter this header ## ## Count = 89 "{{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}}" "00016326" "" "" "" "1" "" "00681" "" "Diagnosis: Febrile seizures" "F" "no" "Italy" "" "0" "" "" "" "" "00050434" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050464" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050473" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050562" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050596" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050597" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050603" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050685" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050696" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050701" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081086" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00102087" "" "" "" "1" "" "01864" "" "" "F" "no" "China" ">05y" "" "" "" "" "P15" "00116874" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_243:0/1:CONTROL" "00116888" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_276:0/1:CONTROL" "00116967" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_47:0/1:CONTROL" "00117019" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_569:0/1:TYPICAL_RE" "00117102" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_732:0/1:TYPICAL_RE" "00154969" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00163745" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00177012" "" "" "" "1" "" "02552" "{PMID:Papuc 2019:30552426}, {PMID:Begemann 2019:30813884}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Switzerland" "" "0" "" "" "" "42680" "00183050" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio22" "00206812" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "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" "00269533" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "0" "" "" "" "" "00274178" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat47" "00292308" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292309" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292310" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292311" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295172" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301259" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "" "" "" "" "" "" "" "00301383" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00301660" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00303051" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat96" "00303053" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat98" "00303119" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T20632" "00303120" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T21005" "00303121" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "T22816" "00303122" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T20340" "00303123" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T24127" "00306222" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "127" "00307765" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410774" "00307766" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410691" "00325394" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat7" "00372758" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "179030" "00374477" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1722" "00374627" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-334" "00374837" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-987" "00374838" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4029" "00374839" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-926" "00375663" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat72" "00377136" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "181230" "00380939" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "185035" "00412366" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "M" "" "Sweden" "" "0" "" "" "" "Fam10" "00416235" "" "" "" "1" "" "00006" "{PMID:Fregeau 2016:27087320}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "Europe" "Pat4" "00416926" "" "" "" "1" "" "03559" "{PMID:Tzialla 2022:36206969}" "" "M" "no" "(Italy)" "" "0" "" "" "Caucasian" "1578" "00418717" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Fam19" "00424614" "" "" "" "1" "" "01164" "" "" "F" "?" "" "" "0" "" "" "" "159736" "00427796" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "" "F" "" "China" "" "0" "" "" "" "Pat150" "00428060" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "208447" "00436412" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "269208" "00438298" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat16" "00438307" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat25" "00438345" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat63" "00438378" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat97" "00438416" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat135" "00438614" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0087" "00438648" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0243" "00438667" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0570" "00447940" "" "" "" "1" "" "00006" "{PMID:Ostrander 2018:30109124}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat8" "00449556" "" "" "" "1" "" "03544" "" "" "M" "no" "" "" "" "" "" "white" "" "00455768" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat8" "00455847" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat87" "00455848" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat88" "00458040" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458097" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465814" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "331736" "00467305" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH629" "00467310" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH680" "00469325" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469326" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469327" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469328" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469329" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469330" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469331" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469332" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00471724" "" "" "" "1" "" "00006" "{PMID:Anderson 2026:41468891}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 89 "{{individualid}}" "{{diseaseid}}" "00016326" "00198" "00050434" "00198" "00050464" "00198" "00050473" "00198" "00050562" "00198" "00050596" "00198" "00050597" "00198" "00050603" "00198" "00050685" "00198" "00050696" "00198" "00050701" "00198" "00081086" "03404" "00102087" "00139" "00116874" "00000" "00116888" "00000" "00116967" "00000" "00117019" "05315" "00117102" "05315" "00154969" "00198" "00163745" "00198" "00177012" "00344" "00183050" "00139" "00206812" "00198" "00261174" "05162" "00269533" "00344" "00274178" "00198" "00292308" "00198" "00292309" "00198" "00292310" "00198" "00292311" "00198" "00295172" "00198" "00301259" "00344" "00301383" "00198" "00301660" "00198" "00303051" "05521" "00303053" "05521" "00303119" "00344" "00303120" "00344" "00303121" "00344" "00303122" "00344" "00303123" "00344" "00306222" "02700" "00307765" "00139" "00307766" "00139" "00325394" "00198" "00372758" "05760" "00374477" "00198" "00374627" "00198" "00374837" "00198" "00374838" "00198" "00374839" "00198" "00375663" "00198" "00377136" "05760" "00380939" "03404" "00412366" "05611" "00416235" "05611" "00416926" "03404" "00418717" "05611" "00424614" "03404" "00427796" "04270" "00428060" "03404" "00436412" "03404" "00438298" "04270" "00438307" "04270" "00438345" "04270" "00438378" "04270" "00438416" "04270" "00438614" "06906" "00438648" "06906" "00438667" "06906" "00447940" "00841" "00449556" "00138" "00455768" "00198" "00455847" "00198" "00455848" "00198" "00458040" "05611" "00458097" "05611" "00465814" "03404" "00467305" "00198" "00467310" "00198" "00469325" "00198" "00469326" "00198" "00469327" "00198" "00469328" "00198" "00469329" "00198" "00469330" "00198" "00469331" "00198" "00469332" "00198" "00471724" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00198, 00344, 00841, 02700, 03404, 04270, 05162, 05315, 05521, 05611, 05760, 06906 ## Count = 78 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014939" "00198" "00016326" "00681" "Unknown" "" "familial febrile seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000037046" "00198" "00050434" "00006" "Isolated (sporadic)" "" "seizures, gastroesophageal reflux, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000037076" "00198" "00050464" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000037085" "00198" "00050473" "00006" "Isolated (sporadic)" "" "generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability profound" "" "" "" "" "" "" "" "" "" "" "" "" "0000037174" "00198" "00050562" "00006" "Isolated (sporadic)" "" "progressive microcephaly, intellectual disability profound, infantile encephalopathy, optic atrophy, generalized myoclonic seizures, generalized tonic-clonic seizures, spasticity, cerebral atrophy, unerupted tooth" "" "" "" "" "" "" "" "" "" "" "" "" "0000037208" "00198" "00050596" "00006" "Isolated (sporadic)" "" "global developmental delay, autism, sleep-wake cycle disturbance, generalized neonatal hypotonia, generalized hirsutism, urinary incontinence, anterior creases of earlobe, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "" "0000037209" "00198" "00050597" "00006" "Isolated (sporadic)" "" "postnatal microcephaly, seizures, autism spectrum disorder, bruxism, stereotypic behavior, delayed speech and language development, short palm, small feet" "" "" "" "" "" "" "" "" "" "" "" "" "0000037215" "00198" "00050603" "00006" "Unknown" "" "absence seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000037297" "00198" "00050685" "00006" "Isolated (sporadic)" "" "constipation, global developmental delay, abnormality of the eyebrow" "" "" "" "" "" "" "" "" "" "" "" "" "0000037308" "00198" "00050696" "00006" "Isolated (sporadic)" "" "global developmental delay, autism, joint hypermobility, cryptorchidism, hyperextensibility of the knee, hyperextensibility at elbow, broad forehead, deeply set eye, anteverted nares, thin upper lip vermilion, widely spaced teeth, sandal gap" "" "" "" "" "" "" "" "" "" "" "" "" "0000037313" "00198" "00050701" "00006" "Isolated (sporadic)" "" "global developmental delay, progressive microcephaly, seizures, edema, thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "" "0000060655" "03404" "00081086" "01758" "Isolated (sporadic)" "" "Epileptic encephalopathy, early infantile, 11 (OMIM:613721)" "" "" "" "" "" "" "" "" "" "" "" "" "0000092291" "05315" "00117019" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000092361" "05315" "00117102" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000127701" "00198" "00154969" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "0000128883" "00198" "00163745" "01807" "Unknown" "" "Generalized-onset seizure (HP:0002197); Global developmental delay (HP:0001263); Autistic behavior (HP:0000729)" "" "" "" "" "" "" "" "" "" "" "" "" "0000141829" "00344" "00177012" "02552" "Isolated (sporadic)" "16y04m" "no pre-/perinatal anomalies; birth 41w1d, weight 4120 g, length 51 cm; severe intellectual disability (HP:0001249); normal behavior; developmental delay; no sit, no walk; no speech; 3d-seizures, myoclonic seizures, tonic seizures, 1-7 seizures/day pharmacoresistant, no acquired microcephaly; spasticity, bilateral contractures knees; high narrow palate (HP:0002705); cortical visual impairment, gastro-jejunal tube; EEG-frontocentral spike-wave activity sides, burst suppression; 4d-MRI normal; 44y-MRI generalized supra- and infratentorial atrophy, bilateral hippocampal atrophy, left-sided hippocampal sclerosis, atrophy orpus callosum" "" "" "neonatal (HP:0003623)" "" "" "" "" "" "" "DEE11" "" "" "0000143803" "00139" "00183050" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000154601" "00198" "00206812" "01807" "Unknown" "" "Epileptic encephalopathy (HP:0200134); Microcephaly (HP:0000252); Generalized hypotonia (HP:0001290)" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "0000207364" "00344" "00269533" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000209123" "00198" "00274178" "00006" "Isolated (sporadic)" "" "mitochondrial disease criteria score 2" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000228529" "00344" "00301259" "03512" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228561" "00198" "00301383" "01164" "Unknown" "" "Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228761" "00198" "00301660" "01807" "Unknown" "" "Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230134" "05521" "00303051" "00006" "Isolated (sporadic)" "" "Epileptic encephalopathy, neonatal onset/Migrating Partial Seizures of Infancy; age onset neonatal" "" "" "" "" "" "" "" "" "" "EIEE11" "seizures" "" "0000230136" "05521" "00303053" "00006" "Isolated (sporadic)" "" "Epileptic encephalopathy, neonatal onset; age onset neonatal" "" "" "" "" "" "" "" "" "" "EIEE11" "seizures" "" "0000230203" "00344" "00303119" "00006" "Isolated (sporadic)" "" "early onset epileptic encephalopathy evolving to infantile spasms" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230204" "00344" "00303120" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230205" "00344" "00303121" "00006" "Unknown" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230206" "00344" "00303122" "00006" "Isolated (sporadic)" "" "Lennox Gastaut syndrome" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230207" "00344" "00303123" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000232070" "02700" "00306222" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243881" "00198" "00325394" "00006" "Isolated (sporadic)" "" "no seizures;severe autism; 4y-no speech" "" "4y" "" "" "" "" "" "" "" "" "autism" "" "0000268035" "05760" "00372758" "01164" "Unknown" "65y" "For decades, secondary seizures with visual disturbance, gait disturbance, tendency to fall and sensory disturbances, cramps" "" "" "" "" "" "" "" "" "" "" "" "" "0000269687" "00198" "00374477" "00006" "Familial, autosomal dominant" "" "Global developmental delay, intermittent ataxia, seizures and autistic features" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia, autism spectrum disorder" "" "0000269837" "00198" "00374627" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, intellectual disability" "" "0000270047" "00198" "00374837" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270048" "00198" "00374838" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270049" "00198" "00374839" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270876" "00198" "00375663" "00006" "Isolated (sporadic)" "" "seizures; MRI brain normal" "" "18y" "" "" "" "" "" "" "" "" "" "" "0000272299" "05760" "00377136" "01164" "Unknown" "" "Ataxia, Episodic ataxia, Abnormality of coordination" "" "02y" "" "" "" "" "" "" "" "" "" "" "0000274792" "03404" "00380939" "01164" "Isolated (sporadic)" "" "Bilateral tonic-clonic seizure, Neonatal seizure, Neonatal epileptic spasm" "" "" "" "" "" "" "" "" "" "" "04d" "" "0000304371" "05611" "00412366" "00006" "Isolated (sporadic)" "" "mild intellectual disability, autism, epilepsy, delayed speech development" "" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000308002" "05611" "00416235" "00006" "Isolated (sporadic)" "9y" "see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no syndactyly; hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; epicanthal folds; deeply set eyes; no blepharaophymosis; abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000308437" "03404" "00416926" "03559" "Isolated (sporadic)" "" "Macrocephaly HP:0000256\r\nVentriculomegaly HP:0002119\r\nSupraventricular tachycardia HP:0004755\r\nCardiomegaly HP:0001640\r\nDecreased body weight HP:0004325\r\nSimplified gyral pattern HP:0009879\r\nLow-set ears HP:0000369\r\nBlepharophimosis HP:0000581\r\nEpicanthus HP:0000286\r\nHypertelorism HP:0000316\r\nRetrognathia HP:0000278\r\nHypotonia HP:0001252\r\nSeizure HP:0001250\r\nFever HP:0001945\r\nHyponatremia HP:0002902\r\nHypoglycemia HP:0001943\r\nAnemia HP:0001903" "" "" "" "" "" "" "" "" "" "DEE11" "supraventricular tachyarrhythmias (SVT)" "" "0000310016" "05611" "00418717" "00006" "Isolated (sporadic)" "" "speech delay; motor delay; no behavioral problems; facial dysmorphism; no genitourinary anomalies" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000315812" "03404" "00424614" "01164" "Unknown" "12y" "Dystonia, Intellectual disability, mild, Ventricular septal defect, Lower limb spasticity, Aganglionosis of the small intestine, Arm dystonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000318770" "04270" "00427796" "00006" "Isolated (sporadic)" "3y" "intellectual disability; complex partial seizure, generalized tonic-clonic, frequency 3/d; EEG multifocal discharges; MRI brain L temporal lobe atrophy?; controlled to antiepileptic drugs" "2d" "" "" "" "" "" "" "" "" "" "epilepsy of infancy with migrating focal seizures" "" "0000319006" "03404" "00428060" "01164" "Unknown" "02y" "Focal tonic seizure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000326593" "03404" "00436412" "01164" "Unknown" "02y" "Severe global developmental delay, Microcephaly, Hypertelorism, Long palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "" "0000328202" "04270" "00438298" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0025356 pschomotor retardation" "5y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328211" "04270" "00438307" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001249 intellectual disability; HP:0001252 muscular hypotonia" "9m" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328249" "04270" "00438345" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0040187 neonatal sepsis; HP:0002090 pneumonia; HP:0002878 respiratory failure; HP:0003073 hypoalbuminemia; HP:0001903 anemia; HP:0002133 status epilepticus; HP:0012448 delayed myelination" "3d" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328282" "04270" "00438378" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0000952 jaundice; HP:0003808 abnormal muscle tone" "1y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328320" "04270" "00438416" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0003593 infantile onset; HP:0002333 motor deterioration; HP:0002187 intellectual disability, profound; HP:0010862 delayed fine motor development; HP:0012434 delayed social development; HP:0000733 stereotypic behavior; HP:0000957 cafe-au-lait spot; HP:0012704 widened subarachnoid space" "5y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328517" "06906" "00438614" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328551" "06906" "00438648" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328570" "06906" "00438667" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000337133" "00841" "00447940" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay, hypotonia, cerebral palsy, postnatal microcephaly; seizure types generalized tonic clonic, focal tonic; EEG Discontinuous, multifocal spike wave; MRI brain normal" "<1m" "" "" "" "" "" "" "" "" "DEE11" "early infantile epileptic encephalopathy" "" "0000338730" "00138" "00449556" "03544" "Isolated (sporadic)" "15y" "HP:0000256, HP:0000717, HP:0001000, HP:0001249, HP:0001256, HP:0002342, HP:0002533, HP:0003502, HP:0005585, HP:0006889" "" "" "" "" "" "" "" "" "" "" "autism" "" "0000344301" "00198" "00455768" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "DEE11" "neurogenetic diseases" "" "0000344380" "00198" "00455847" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "DEE11" "neurogenetic diseases" "" "0000344381" "00198" "00455848" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "DEE11" "neurogenetic diseases" "" "0000346489" "05611" "00458040" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0000717, HP:0001263, HP:0004692" "" "" "" "" "" "" "" "" "" "" "complex neurodevelopmental disorder" "" "0000346544" "05611" "00458097" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0002342, HP:0001250" "" "" "" "" "" "" "" "" "" "DEE11" "complex neurodevelopmental disorder" "" "0000351261" "03404" "00465814" "01164" "Isolated (sporadic)" "02y" "Neurodevelopmental delay, Motor delay, Gait ataxia, Absent speech, EEG abnormality, Neurodegeneration" "" "" "" "" "" "" "" "" "" "" "" "" "0000352512" "00198" "00467305" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "BFIS3" "seizures, benign familial infantile" "" "0000352517" "00198" "00467310" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "DEE11" "early infantile epileptic encephalopathy" "" "0000354478" "00198" "00469325" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000354479" "00198" "00469326" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354480" "00198" "00469327" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354481" "00198" "00469328" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000354482" "00198" "00469329" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354483" "00198" "00469330" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354484" "00198" "00469331" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000354485" "00198" "00469332" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000356533" "05611" "00471724" "00006" "Isolated (sporadic)" "13y6m" "see paper; ..., normal pregnancy; birth 34+5w; neonatal NICU 12d for prematurity; birth weight 2300g (P60, 0.3 SD); length 163cm (P66, 0.4 SD), weight 49.3kg (P54, 0.1 SD), OFC 54.5cm (P67, 0.4 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD-hyperactive type, sensory and auditory processing disorder; no autism; 6m-sit; 12m-walk; early social smile; 9m-speech mama dada, 3y-difficult to understand speech, 13y6m- challenges with social pragmatics and mild expressive language issues; 9y-generalized seizure; EEG frequent runs of 2-2.5Hz generalized spike-wave discharges lasting from 6-60 seconds, sometimes punctuated by brief, lower amplitude theta activity were seen during periods of wakefulness, drowsiness, and stage I/II sleep; MRI brain normal; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; history of severe asthma now under good control" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 89 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016255" "00016326" "1" "00681" "00681" "2014-03-12 14:25:07" "00006" "2014-03-14 16:42:08" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050379" "00050434" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050409" "00050464" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050418" "00050473" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050507" "00050562" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050541" "00050596" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050542" "00050597" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050548" "00050603" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050630" "00050685" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050641" "00050696" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050646" "00050701" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081198" "00081086" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000102538" "00102087" "1" "01864" "01864" "2017-03-30 09:47:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000117342" "00116874" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117356" "00116888" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117435" "00116967" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117502" "00117019" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117572" "00117102" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000155832" "00154969" "0" "01807" "01807" "2018-03-07 04:18:38" "" "" "SEQ" "DNA" "" "" "0000164610" "00163745" "1" "01807" "01807" "2018-04-06 04:02:13" "" "" "SEQ" "DNA" "" "" "0000177904" "00177012" "1" "02552" "02552" "2018-08-16 11:35:12" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000184010" "00183050" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000207846" "00206812" "1" "01807" "01807" "2018-11-14 14:33:20" "" "" "SEQ" "DNA" "" "" "0000262280" "00261174" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270686" "00269533" "1" "03512" "03512" "2019-11-29 11:23:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000275333" "00274178" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293476" "00292308" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293477" "00292309" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293478" "00292310" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293479" "00292311" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296340" "00295172" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302382" "00301259" "1" "03512" "03512" "2020-05-11 20:39:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000302504" "00301383" "1" "01164" "01164" "2020-05-15 11:10:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302785" "00301660" "1" "01807" "01807" "2020-05-20 08:43:01" "" "" "SEQ" "DNA" "" "" "0000304176" "00303051" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304178" "00303053" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304244" "00303119" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304245" "00303120" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304246" "00303121" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304247" "00303122" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304248" "00303123" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000307355" "00306222" "1" "03695" "03695" "2020-07-11 10:21:40" "" "" "SEQ-NG" "DNA" "" "" "0000308905" "00307765" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308906" "00307766" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000326605" "00325394" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000373991" "00372758" "1" "01164" "01164" "2021-05-11 14:16:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000375671" "00374477" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375821" "00374627" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376031" "00374837" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376032" "00374838" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376033" "00374839" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376860" "00375663" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000378341" "00377136" "1" "01164" "01164" "2021-07-07 13:44:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000382153" "00380939" "1" "01164" "01164" "2021-08-25 09:45:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000413638" "00412366" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417515" "00416235" "1" "00006" "00006" "2022-08-25 17:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000418208" "00416926" "1" "03559" "03559" "2022-09-11 11:15:07" "" "" "SEQ-NG-I" "DNA" "Cord blood and parental peripheral blood samples" "Prenatal trio-WES" "0000420012" "00418717" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "panel" "0000425927" "00424614" "1" "01164" "01164" "2022-11-21 12:16:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000429119" "00427796" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000429472" "00428060" "1" "01164" "01164" "2022-12-20 15:06:07" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000437896" "00436412" "1" "01164" "01164" "2023-09-14 13:05:11" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439780" "00438298" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439789" "00438307" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439827" "00438345" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439860" "00438378" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439898" "00438416" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440096" "00438614" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440130" "00438648" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440149" "00438667" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000449511" "00447940" "1" "00006" "00006" "2024-02-02 18:50:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000451146" "00449556" "1" "03544" "03544" "2024-04-22 13:46:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000457384" "00455768" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457463" "00455847" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000457464" "00455848" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000459658" "00458040" "1" "03544" "03544" "2024-11-26 10:13:10" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459715" "00458097" "1" "03544" "03544" "2024-11-29 10:47:00" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467465" "00465814" "1" "01164" "01164" "2025-06-06 12:42:34" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000468968" "00467305" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468973" "00467310" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470993" "00469325" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470994" "00469326" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470995" "00469327" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470996" "00469328" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470997" "00469329" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470998" "00469330" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470999" "00469331" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471000" "00469332" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473394" "00471724" "1" "00006" "00006" "2026-01-03 11:36:42" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000016255" "SCN2A" "0000050379" "SCN2A" "0000050409" "SCN2A" "0000050507" "SCN2A" "0000050541" "SCN2A" "0000050548" "SCN2A" "0000050630" "SCN2A" "0000050641" "SCN2A" "0000050646" "SCN2A" "0000081198" "SCN2A" "0000102538" "SCN2A" "0000262280" "DLL1" "0000275333" "SCN2A" "0000304176" "SCN2A" "0000304178" "SCN2A" "0000304244" "SCN2A" "0000304245" "SCN2A" "0000304246" "SCN2A" "0000304247" "SCN2A" "0000304248" "SCN2A" "0000307355" "SCN2A" "0000308905" "SCN2A" "0000308906" "SCN2A" "0000326605" "SCN2A" "0000373991" "SCN2A" "0000375671" "SCN2A" "0000375821" "SCN2A" "0000376031" "SCN2A" "0000376032" "SCN2A" "0000376033" "SCN2A" "0000378341" "SCN2A" "0000382153" "SCN2A" "0000418208" "SCN2A" "0000425927" "SCN2A" "0000429472" "SCN2A" "0000437896" "SCN2A" "0000467465" "SCN2A" ## 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 = 448 "{{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}}" "0000036001" "21" "75" "2" "166172087" "166172087" "subst" "1.64547E-5" "00681" "SCN2A_000001" "g.166172087G>A" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Germline" "yes" "" "0" "" "" "g.165315577G>A" "" "likely pathogenic" "" "0000079359" "0" "90" "2" "166210714" "166210714" "subst" "0" "00006" "SCN2A_000026" "g.166210714T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.165354204T>C" "" "pathogenic" "" "0000079389" "0" "90" "2" "166152058" "166198692" "dup" "0" "00006" "SCN2A_000020" "g.166152058_166198692dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "g.165295548_165342182dup" "" "pathogenic" "" "0000079398" "0" "90" "2" "165578421" "167108554" "del" "0" "00006" "COBLL1_000002" "g.165578421_167108554del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000079487" "0" "90" "2" "166243484" "166243484" "subst" "0" "00006" "SCN2A_000027" "g.166243484T>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.165386974T>A" "" "pathogenic" "" "0000079521" "0" "90" "2" "166172031" "166172034" "delins" "0" "00006" "SCN2A_000024" "g.166172031_166172034delTGinsT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.165315521_165315524delinsT" "" "pathogenic" "" "0000079522" "0" "90" "2" "166179687" "166179690" "delins" "0" "00006" "SCN2A_000025" "g.166179687_166179690delTCinsT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.165323177_165323180delinsT" "" "pathogenic" "" "0000079528" "21" "90" "2" "166165214" "166165214" "subst" "0" "00006" "SCN2A_000022" "g.166165214T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.165308704T>G" "" "pathogenic" "" "0000079610" "0" "90" "2" "166153563" "166153563" "subst" "0" "00006" "SCN2A_000021" "g.166153563C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.165297053C>T" "" "pathogenic" "" "0000079621" "0" "90" "2" "166165305" "166165305" "subst" "0" "00006" "SCN2A_000023" "g.166165305G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "" "0" "" "" "g.165308795G>A" "" "pathogenic" "" "0000079626" "0" "90" "2" "166245954" "166245954" "subst" "0" "00006" "SCN2A_000019" "g.166245954G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.165389444G>A" "" "pathogenic" "" "0000130284" "0" "70" "2" "166226787" "166226787" "subst" "0" "01758" "SCN2A_000028" "g.166226787G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.165370277G>A" "" "likely pathogenic" "ACMG" "0000165278" "0" "70" "2" "166229837" "166229837" "subst" "0" "01864" "SCN2A_000029" "g.166229837T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.165373327T>C" "" "likely pathogenic" "" "0000188187" "0" "50" "2" "166179948" "166179948" "subst" "0" "02192" "SCN2A_000031" "g.166179948G>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.165323438G>T" "" "VUS" "" "0000188201" "0" "50" "2" "166231429" "166231430" "del" "0" "02192" "SCN2A_000034" "g.166231429_166231430del" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "frameshift_deletion" "Germline" "" "" "0" "" "" "g.165374919_165374920del" "" "VUS" "" "0000188280" "0" "50" "2" "166152433" "166152433" "subst" "0.000695648" "02192" "SCN2A_000030" "g.166152433G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144814658" "0" "" "" "g.165295923G>A" "" "VUS" "" "0000188415" "0" "50" "2" "166187872" "166187872" "subst" "0" "02192" "SCN2A_000032" "g.166187872T>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.165331362T>C" "" "VUS" "" "0000188464" "0" "50" "2" "166231431" "166231432" "ins" "0" "02192" "SCN2A_000035" "g.166231431_166231432insGCC" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "nonframeshift_insertion" "Germline" "" "" "0" "" "" "g.165374921_165374922insGCC" "" "VUS" "" "0000188514" "0" "50" "2" "166221710" "166221710" "subst" "0.000166522" "02192" "SCN2A_000033" "g.166221710G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200138205" "0" "" "" "g.165365200G>A" "" "VUS" "" "0000248083" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "02325" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000250774" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "02326" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000250999" "0" "10" "2" "166172133" "166172133" "subst" "0" "02326" "SCN2A_000070" "g.166172133A>G" "" "" "" "SCN2A(NM_021007.3):c.1536A>G (p.E512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315623A>G" "" "benign" "" "0000251000" "0" "10" "2" "166246289" "166246289" "subst" "0" "02326" "SCN2A_000167" "g.166246289A>G" "" "" "" "SCN2A(NM_021007.3):c.5973A>G (p.S1991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389779A>G" "" "benign" "" "0000251110" "0" "10" "2" "166201225" "166201225" "subst" "0.00434083" "02326" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344715A>G" "" "benign" "" "0000251240" "0" "10" "2" "166152222" "166152222" "subst" "0" "02326" "SCN2A_000036" "g.166152222A>G" "" "" "" "SCN2A(NM_021007.3):c.-51-61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295712A>G" "" "benign" "" "0000251241" "0" "10" "2" "166153499" "166153499" "subst" "0.805926" "02326" "SCN2A_000042" "g.166153499A>G" "" "" "" "SCN2A(NM_021007.3):c.268-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296989A>G" "" "benign" "" "0000251242" "0" "10" "2" "166164223" "166164223" "del" "0" "02326" "SCN2A_000045" "g.166164223del" "" "" "" "SCN2A(NM_021007.3):c.387-135delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307713del" "" "benign" "" "0000251243" "0" "10" "2" "166168503" "166168503" "subst" "0.0118319" "02326" "SCN2A_000058" "g.166168503A>G" "" "" "" "SCN2A(NM_021007.3):c.971-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165311993A>G" "" "benign" "" "0000251244" "0" "10" "2" "166169967" "166169967" "subst" "0" "02326" "SCN2A_000059" "g.166169967A>G" "" "" "" "SCN2A(NM_021007.3):c.1035-163A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313457A>G" "" "benign" "" "0000251245" "0" "10" "2" "166183273" "166183273" "subst" "0" "02326" "SCN2A_000077" "g.166183273A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-89A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326763A>G" "" "benign" "" "0000251246" "0" "10" "2" "166183301" "166183301" "subst" "0" "02326" "SCN2A_000079" "g.166183301A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326791A>G" "" "benign" "" "0000251247" "0" "10" "2" "166199086" "166199086" "subst" "0" "02326" "SCN2A_000094" "g.166199086A>G" "" "" "" "SCN2A(NM_021007.3):c.2562+107A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342576A>G" "" "benign" "" "0000251248" "0" "10" "2" "166221581" "166221581" "subst" "0" "02326" "SCN2A_000110" "g.166221581A>G" "" "" "" "SCN2A(NM_021007.3):c.3400-72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365071A>G" "" "benign" "" "0000251249" "0" "10" "2" "166226581" "166226581" "subst" "0" "02326" "SCN2A_000121" "g.166226581A>C" "" "" "" "SCN2A(NM_021007.3):c.3676-55A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370071A>C" "" "benign" "" "0000251250" "0" "10" "2" "166226581" "166226581" "subst" "0" "02326" "SCN2A_000122" "g.166226581A>G" "" "" "" "SCN2A(NM_021007.3):c.3676-55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370071A>G" "" "benign" "" "0000251251" "0" "10" "2" "166226894" "166226894" "del" "0" "02326" "SCN2A_000126" "g.166226894del" "" "" "" "SCN2A(NM_021007.3):c.3849+85delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370384del" "" "benign" "" "0000251252" "0" "10" "2" "166239057" "166239057" "subst" "0" "02326" "SCN2A_000143" "g.166239057A>C" "" "" "" "SCN2A(NM_021007.3):c.4551+1350A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165382547A>C" "" "benign" "" "0000252033" "0" "30" "2" "166153483" "166153483" "subst" "1.2437E-5" "02326" "SCN2A_000041" "g.166153483A>G" "" "" "" "SCN2A(NM_021007.3):c.268-44A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296973A>G" "" "likely benign" "" "0000252034" "0" "30" "2" "166170312" "166170312" "subst" "0.00247975" "02326" "SCN2A_000065" "g.166170312A>C" "" "" "" "SCN2A(NM_021007.3):c.1176+41A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313802A>C" "" "likely benign" "" "0000252035" "0" "30" "2" "166183324" "166183324" "subst" "0.0120598" "02326" "SCN2A_000080" "g.166183324A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-38A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326814A>G" "" "likely benign" "" "0000252036" "0" "30" "2" "166183327" "166183327" "subst" "0" "02326" "SCN2A_000081" "g.166183327A>C" "" "" "" "SCN2A(NM_021007.3):c.2017-35A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326817A>C" "" "likely benign" "" "0000252037" "0" "30" "2" "166183502" "166183502" "subst" "0.000243772" "02326" "SCN2A_000083" "g.166183502A>G" "" "" "" "SCN2A(NM_021007.3):c.2149+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326992A>G" "" "likely benign" "" "0000252038" "0" "30" "2" "166187782" "166187782" "subst" "0" "02326" "SCN2A_000086" "g.166187782A>T" "" "" "" "SCN2A(NM_021007.3):c.2150-58A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331272A>T" "" "likely benign" "" "0000252039" "0" "30" "2" "166210666" "166210666" "subst" "8.13233E-6" "02326" "SCN2A_000101" "g.166210666A>G" "" "" "" "SCN2A(NM_021007.3):c.2920-36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354156A>G" "" "likely benign" "" "0000252040" "0" "30" "2" "166221853" "166221853" "subst" "0" "02326" "SCN2A_000113" "g.166221853A>C" "" "" "" "SCN2A(NM_021007.3):c.3520+80A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365343A>C" "" "likely benign" "" "0000252041" "0" "30" "2" "166243208" "166243208" "subst" "0.00328523" "02326" "SCN2A_000147" "g.166243208A>T" "" "" "" "SCN2A(NM_021007.3):c.4552-48A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386698A>T" "" "likely benign" "" "0000252042" "0" "30" "2" "166243242" "166243242" "subst" "3.67963E-5" "02326" "SCN2A_000150" "g.166243242A>G" "" "" "" "SCN2A(NM_021007.3):c.4552-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386732A>G" "" "likely benign" "" "0000252043" "0" "30" "2" "166243574" "166243574" "subst" "0.0099581" "02326" "SCN2A_000154" "g.166243574A>G" "" "" "" "SCN2A(NM_021007.3):c.4822+48A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165387064A>G" "" "likely benign" "" "0000252531" "0" "90" "2" "166201224" "166201224" "subst" "0" "02326" "SCN2A_000097" "g.166201224A>G" "" "" "" "SCN2A(NM_021007.3):c.2722A>G (p.K908E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344714A>G" "" "pathogenic" "" "0000252645" "0" "50" "2" "166226686" "166226686" "subst" "0" "02326" "SCN2A_000125" "g.166226686A>G" "" "" "" "SCN2A(NM_021007.3):c.3726A>G (p.L1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370176A>G" "" "VUS" "" "0000252697" "0" "50" "2" "166172191" "166172191" "subst" "0" "02326" "SCN2A_000071" "g.166172191A>G" "" "" "" "SCN2A(NM_021007.3):c.1594A>G (p.I532V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315681A>G" "" "VUS" "" "0000252777" "0" "50" "2" "166226669" "166226669" "subst" "0" "02326" "SCN2A_000124" "g.166226669A>G" "" "" "" "SCN2A(NM_021007.3):c.3709A>G (p.T1237A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370159A>G" "" "VUS" "" "0000252800" "0" "50" "2" "166167111" "166167111" "subst" "4.12137E-6" "02326" "SCN2A_000057" "g.166167111A>T" "" "" "" "SCN2A(NM_021007.3):c.970+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310601A>T" "" "VUS" "" "0000252801" "0" "50" "2" "166183297" "166183297" "subst" "0" "02326" "SCN2A_000078" "g.166183297A>G" "" "" "" "SCN2A(NM_021007.3):c.2017-65A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326787A>G" "" "VUS" "" "0000252802" "0" "50" "2" "166245080" "166245080" "subst" "0" "02326" "SCN2A_000155" "g.166245080A>G" "" "" "" "SCN2A(NM_021007.3):c.4823-59A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388570A>G" "" "VUS" "" "0000253993" "0" "30" "2" "166183379" "166183379" "subst" "0.00664348" "01943" "SCN2A_000015" "g.166183379A>G" "" "" "" "SCN2A(NM_021007.2):c.2034A>G (p.T678=), SCN2A(NM_021007.3):c.2034A>G (p.T678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326869A>G" "" "likely benign" "" "0000254950" "0" "30" "2" "166172013" "166172013" "subst" "0.000295637" "01943" "SCN2A_000069" "g.166172013A>G" "" "" "" "SCN2A(NM_021007.2):c.1416A>G (p.R472=), SCN2A(NM_021007.3):c.1416A>G (p.R472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315503A>G" "" "likely benign" "" "0000255544" "0" "90" "2" "166243346" "166243346" "subst" "0" "01943" "SCN2A_000151" "g.166243346A>G" "" "" "" "SCN2A(NM_021007.2):c.4642A>G (p.M1548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386836A>G" "" "pathogenic" "" "0000256275" "0" "50" "2" "165987770" "165987770" "subst" "0" "01943" "SCN3A_000002" "g.165987770A>G" "" "" "" "SCN3A(NM_006922.3):c.2549T>C (p.L850P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165131260A>G" "" "VUS" "" "0000297933" "0" "10" "2" "166170127" "166170127" "subst" "0.802235" "02325" "SCN2A_000063" "g.166170127T>C" "" "" "" "SCN2A(NM_021007.3):c.1035-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313617T>C" "" "benign" "" "0000297934" "0" "50" "2" "166171996" "166171996" "subst" "0" "02325" "SCN2A_000068" "g.166171996G>T" "" "" "" "SCN2A(NM_021007.3):c.1399G>T (p.A467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315486G>T" "" "VUS" "" "0000297935" "0" "10" "2" "166179650" "166179650" "subst" "0.512171" "02325" "SCN2A_000074" "g.166179650C>T" "" "" "" "SCN2A(NM_021007.3):c.1672-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323140C>T" "" "benign" "" "0000297936" "0" "30" "2" "166179779" "166179779" "subst" "0.00944508" "02325" "SCN2A_000013" "g.166179779T>C" "" "" "" "SCN2A(NM_021007.3):c.1785T>C (p.D595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323269T>C" "" "likely benign" "" "0000297937" "0" "90" "2" "166223882" "166223882" "subst" "0" "02325" "SCN2A_000118" "g.166223882G>C" "" "" "" "SCN2A(NM_021007.3):c.3675+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367372G>C" "" "pathogenic" "" "0000297938" "0" "30" "2" "166229839" "166229839" "subst" "0" "02325" "SCN2A_000127" "g.166229839C>T" "" "" "" "SCN2A(NM_021007.3):c.3954C>T (p.S1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373329C>T" "" "likely benign" "" "0000297939" "0" "70" "2" "166231195" "166231195" "subst" "0" "02325" "SCN2A_000131" "g.166231195G>A" "" "" "" "SCN2A(NM_021007.3):c.3973G>A (p.V1325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374685G>A" "" "likely pathogenic" "" "0000297940" "0" "50" "2" "166245205" "166245205" "subst" "0" "02325" "SCN2A_000157" "g.166245205T>C" "" "" "" "SCN2A(NM_021007.3):c.4889T>C (p.L1630P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388695T>C" "" "VUS" "" "0000297941" "0" "10" "2" "166245642" "166245642" "subst" "0.00130591" "02325" "SCN2A_000160" "g.166245642C>T" "" "" "" "SCN2A(NM_021007.3):c.5326C>T (p.L1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389132C>T" "" "benign" "" "0000297942" "0" "10" "2" "166246235" "166246235" "subst" "0.00230252" "02325" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389725C>T" "" "benign" "" "0000299353" "0" "50" "2" "166170189" "166170189" "subst" "0" "02329" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313679C>T" "" "VUS" "" "0000299354" "0" "90" "2" "166234161" "166234161" "del" "0" "02329" "SCN2A_000137" "g.166234161del" "" "" "" "SCN2A(NM_021007.3):c.4308+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377651del" "" "pathogenic" "" "0000301806" "0" "30" "2" "166152433" "166152433" "subst" "0.000695648" "02326" "SCN2A_000030" "g.166152433G>A" "" "" "" "SCN2A(NM_021007.3):c.100G>A (p.A34T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295923G>A" "" "likely benign" "" "0000301807" "0" "10" "2" "166170111" "166170111" "subst" "0" "02326" "SCN2A_000062" "g.166170111T>G" "" "" "" "SCN2A(NM_021007.3):c.1035-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313601T>G" "" "benign" "" "0000301808" "0" "50" "2" "166170104" "166170104" "subst" "0" "02326" "SCN2A_000061" "g.166170104C>G" "" "" "" "SCN2A(NM_021007.3):c.1035-26C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313594C>G" "" "VUS" "" "0000301809" "0" "10" "2" "166170127" "166170127" "subst" "0.802235" "02326" "SCN2A_000063" "g.166170127T>C" "" "" "" "SCN2A(NM_021007.3):c.1035-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313617T>C" "" "benign" "" "0000301810" "0" "30" "2" "166170075" "166170075" "subst" "0" "02326" "SCN2A_000060" "g.166170075C>A" "" "" "" "SCN2A(NM_021007.3):c.1035-55C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313565C>A" "" "likely benign" "" "0000301811" "0" "30" "2" "166170504" "166170504" "subst" "0.00165403" "02326" "SCN2A_000067" "g.166170504G>A" "" "" "" "SCN2A(NM_001040142.2):c.1269G>A (p.(Val423=)), SCN2A(NM_021007.3):c.1269G>A (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313994G>A" "" "likely benign" "" "0000301812" "0" "10" "2" "166179650" "166179650" "subst" "0.512171" "02326" "SCN2A_000074" "g.166179650C>T" "" "" "" "SCN2A(NM_021007.3):c.1672-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323140C>T" "" "benign" "" "0000301813" "0" "10" "2" "166179779" "166179779" "subst" "0.00944508" "02326" "SCN2A_000013" "g.166179779T>C" "" "" "" "SCN2A(NM_021007.3):c.1785T>C (p.D595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323269T>C" "" "benign" "" "0000301814" "0" "30" "2" "166180076" "166180076" "del" "0" "02326" "SCN2A_000076" "g.166180076del" "" "" "" "SCN2A(NM_021007.3):c.2016+66delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323566del" "" "likely benign" "" "0000301815" "0" "30" "2" "166180016" "166180016" "subst" "0" "02326" "SCN2A_000075" "g.166180016G>T" "" "" "" "SCN2A(NM_021007.2):c.2016+6G>T, SCN2A(NM_021007.3):c.2016+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323506G>T" "" "likely benign" "" "0000301816" "0" "90" "2" "166183444" "166183444" "subst" "0" "02326" "SCN2A_000082" "g.166183444C>G" "" "" "" "SCN2A(NM_021007.3):c.2099C>G (p.S700*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165326934C>G" "" "pathogenic" "" "0000301817" "0" "10" "2" "166183676" "166183677" "del" "0" "02326" "SCN2A_000084" "g.166183676_166183677del" "" "" "" "SCN2A(NM_021007.3):c.2149+182_2149+183delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165327166_165327167del" "" "benign" "" "0000301818" "0" "30" "2" "166187773" "166187773" "subst" "0" "02326" "SCN2A_000085" "g.166187773T>C" "" "" "" "SCN2A(NM_021007.3):c.2150-67T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331263T>C" "" "likely benign" "" "0000301819" "0" "10" "2" "166187943" "166187943" "subst" "0" "02326" "SCN2A_000087" "g.166187943T>C" "" "" "" "SCN2A(NM_021007.3):c.2253T>C (p.L751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331433T>C" "" "benign" "" "0000301820" "0" "70" "2" "166188008" "166188008" "subst" "0" "02326" "SCN2A_000089" "g.166188008C>T" "" "" "" "SCN2A(NM_021007.3):c.2318C>T (p.T773I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331498C>T" "" "likely pathogenic" "" "0000301821" "0" "30" "2" "166188168" "166188168" "subst" "0" "02326" "SCN2A_000090" "g.166188168C>T" "" "" "" "SCN2A(NM_021007.3):c.2388+90C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165331658C>T" "" "likely benign" "" "0000301822" "0" "10" "2" "166201060" "166201060" "subst" "0" "02326" "SCN2A_000095" "g.166201060T>C" "" "" "" "SCN2A(NM_021007.3):c.2563-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344550T>C" "" "benign" "" "0000301823" "0" "10" "2" "166152651" "166152651" "subst" "0" "02326" "SCN2A_000018" "g.166152651G>A" "" "" "" "SCN2A(NM_021007.3):c.267+51G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165296141G>A" "" "benign" "" "0000301824" "0" "30" "2" "166210609" "166210609" "subst" "0" "02326" "SCN2A_000100" "g.166210609T>A" "" "" "" "SCN2A(NM_021007.3):c.2920-93T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354099T>A" "" "likely benign" "" "0000301825" "0" "90" "2" "166210789" "166210789" "subst" "0" "02326" "SCN2A_000102" "g.166210789C>A" "" "" "" "SCN2A(NM_021007.3):c.3007C>A (p.L1003I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354279C>A" "" "pathogenic" "" "0000301826" "0" "30" "2" "166211154" "166211154" "subst" "0.00370168" "02326" "SCN2A_000103" "g.166211154C>T" "" "" "" "SCN2A(NM_001040142.2):c.3372C>T (p.S1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354644C>T" "" "likely benign" "" "0000301827" "0" "10" "2" "166211285" "166211285" "subst" "0" "02326" "SCN2A_000105" "g.166211285G>A" "" "" "" "SCN2A(NM_021007.3):c.3399+104G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354775G>A" "" "benign" "" "0000301828" "0" "30" "2" "166211259" "166211259" "subst" "0" "02326" "SCN2A_000104" "g.166211259C>T" "" "" "" "SCN2A(NM_021007.3):c.3399+78C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354749C>T" "" "likely benign" "" "0000301829" "0" "30" "2" "166221579" "166221579" "del" "0" "02326" "SCN2A_000109" "g.166221579del" "" "" "" "SCN2A(NM_021007.3):c.3400-74delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365069del" "" "likely benign" "" "0000301830" "0" "30" "2" "166221578" "166221579" "del" "0" "02326" "SCN2A_000108" "g.166221578_166221579del" "" "" "" "SCN2A(NM_021007.3):c.3400-75_3400-74delGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365068_165365069del" "" "likely benign" "" "0000301831" "0" "30" "2" "166221579" "166221579" "dup" "0" "02326" "SCN2A_000106" "g.166221579dup" "" "" "" "SCN2A(NM_021007.3):c.3400-74dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365069dup" "" "likely benign" "" "0000301833" "0" "30" "2" "166221706" "166221706" "subst" "0.000909792" "02326" "SCN2A_000111" "g.166221706C>T" "" "" "" "SCN2A(NM_021007.2):c.3453C>T (p.P1151=), SCN2A(NM_021007.3):c.3453C>T (p.P1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365196C>T" "" "likely benign" "" "0000301834" "0" "50" "2" "166221770" "166221770" "subst" "4.06154E-6" "02326" "SCN2A_000112" "g.166221770G>A" "" "" "" "SCN2A(NM_021007.3):c.3517G>A (p.E1173K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365260G>A" "" "VUS" "" "0000301835" "0" "10" "2" "166221906" "166221909" "del" "0" "02326" "SCN2A_000114" "g.166221906_166221909del" "" "" "" "SCN2A(NM_021007.3):c.3520+133_3520+136delTCTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365396_165365399del" "" "benign" "" "0000301837" "0" "30" "2" "166221957" "166221958" "dup" "0" "02326" "SCN2A_000116" "g.166221957_166221958dup" "" "" "" "SCN2A(NM_021007.3):c.3520+185_3520+186dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165365447_165365448dup" "" "likely benign" "" "0000301838" "0" "30" "2" "166224005" "166224005" "subst" "0" "02326" "SCN2A_000119" "g.166224005C>T" "" "" "" "SCN2A(NM_021007.3):c.3675+124C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367495C>T" "" "likely benign" "" "0000301839" "0" "50" "2" "166226622" "166226622" "subst" "0" "02326" "SCN2A_000123" "g.166226622T>A" "" "" "" "SCN2A(NM_021007.3):c.3676-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370112T>A" "" "VUS" "" "0000301840" "0" "30" "2" "166226554" "166226554" "subst" "0" "02326" "SCN2A_000120" "g.166226554T>C" "" "" "" "SCN2A(NM_021007.3):c.3676-82T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165370044T>C" "" "likely benign" "" "0000301841" "0" "10" "2" "166153662" "166153662" "subst" "0.000440244" "02326" "SCN2A_000043" "g.166153662C>T" "" "" "" "SCN2A(NM_021007.3):c.386+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165297152C>T" "" "benign" "" "0000301842" "0" "50" "2" "166153691" "166153691" "subst" "0" "02326" "SCN2A_000044" "g.166153691C>G" "" "" "" "SCN2A(NM_021007.3):c.386+46C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165297181C>G" "" "VUS" "" "0000301843" "0" "10" "2" "166164348" "166164348" "subst" "0.00721644" "02326" "SCN2A_000048" "g.166164348G>A" "" "" "" "SCN2A(NM_021007.3):c.387-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307838G>A" "" "benign" "" "0000301844" "0" "30" "2" "166164319" "166164319" "subst" "0" "02326" "SCN2A_000047" "g.166164319T>G" "" "" "" "SCN2A(NM_021007.3):c.387-39T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307809T>G" "" "likely benign" "" "0000301845" "0" "30" "2" "166164259" "166164259" "subst" "0" "02326" "SCN2A_000046" "g.166164259G>T" "" "" "" "SCN2A(NM_021007.3):c.387-99G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165307749G>T" "" "likely benign" "" "0000301846" "0" "90" "2" "166229841" "166229841" "subst" "0" "02326" "SCN2A_000128" "g.166229841G>A" "" "" "" "SCN2A(NM_001040142.2):c.3956G>A (p.R1319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373331G>A" "" "pathogenic" "" "0000301847" "0" "30" "2" "166229912" "166229912" "subst" "0" "02326" "SCN2A_000129" "g.166229912C>T" "" "" "" "SCN2A(NM_021007.3):c.3972+55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373402C>T" "" "likely benign" "" "0000301848" "0" "30" "2" "166231103" "166231103" "subst" "0" "02326" "SCN2A_000130" "g.166231103T>A" "" "" "" "SCN2A(NM_021007.3):c.3973-92T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374593T>A" "" "likely benign" "" "0000301849" "0" "50" "2" "166231490" "166231490" "subst" "4.12579E-6" "02326" "SCN2A_000134" "g.166231490T>C" "" "" "" "SCN2A(NM_021007.3):c.4254+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374980T>C" "" "VUS" "" "0000301850" "0" "30" "2" "166234015" "166234015" "subst" "0" "02326" "SCN2A_000135" "g.166234015T>C" "" "" "" "SCN2A(NM_021007.3):c.4255-92T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377505T>C" "" "likely benign" "" "0000301851" "0" "90" "2" "166234155" "166234155" "subst" "0" "02326" "SCN2A_000136" "g.166234155C>T" "" "" "" "SCN2A(NM_021007.3):c.4303C>T (p.R1435*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165377645C>T" "" "pathogenic" "" "0000301852" "0" "30" "2" "166236985" "166236985" "subst" "0" "02326" "SCN2A_000138" "g.166236985G>A" "" "" "" "SCN2A(NM_021007.3):c.4309-117G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165380475G>A" "" "likely benign" "" "0000301853" "0" "10" "2" "166238945" "166238945" "subst" "0" "02326" "SCN2A_000142" "g.166238945T>C" "" "" "" "SCN2A(NM_021007.3):c.4551+1238T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165382435T>C" "" "benign" "" "0000301854" "0" "30" "2" "166237865" "166237865" "subst" "0" "02326" "SCN2A_000141" "g.166237865T>G" "" "" "" "SCN2A(NM_021007.3):c.4551+158T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381355T>G" "" "likely benign" "" "0000301855" "0" "10" "2" "166237768" "166237768" "subst" "0" "02326" "SCN2A_000140" "g.166237768G>A" "" "" "" "SCN2A(NM_021007.3):c.4551+61G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381258G>A" "" "benign" "" "0000301856" "0" "30" "2" "166243124" "166243124" "subst" "0" "02326" "SCN2A_000145" "g.166243124G>A" "" "" "" "SCN2A(NM_021007.3):c.4552-132G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386614G>A" "" "likely benign" "" "0000301857" "0" "10" "2" "166243123" "166243123" "del" "0" "02326" "SCN2A_000144" "g.166243123del" "" "" "" "SCN2A(NM_021007.3):c.4552-133delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386613del" "" "benign" "" "0000301858" "0" "10" "2" "166243216" "166243216" "subst" "0" "02326" "SCN2A_000149" "g.166243216T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-40T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386706T>A" "" "benign" "" "0000301859" "0" "10" "2" "166243215" "166243215" "subst" "0" "02326" "SCN2A_000148" "g.166243215T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-41T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386705T>A" "" "benign" "" "0000301860" "0" "10" "2" "166243158" "166243158" "subst" "0" "02326" "SCN2A_000146" "g.166243158T>A" "" "" "" "SCN2A(NM_021007.3):c.4552-98T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386648T>A" "" "benign" "" "0000301861" "0" "10" "2" "166243420" "166243420" "subst" "0" "02326" "SCN2A_000153" "g.166243420T>A" "" "" "" "SCN2A(NM_021007.3):c.4716T>A (p.V1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386910T>A" "" "benign" "" "0000301862" "0" "50" "2" "166245115" "166245115" "subst" "0.000318121" "02326" "SCN2A_000156" "g.166245115T>G" "" "" "" "SCN2A(NM_021007.3):c.4823-24T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388605T>G" "" "VUS" "" "0000301863" "0" "10" "2" "166245230" "166245230" "subst" "0.284352" "02326" "SCN2A_000006" "g.166245230T>A" "" "" "" "SCN2A(NM_021007.3):c.4914T>A (p.R1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388720T>A" "" "benign" "" "0000301864" "0" "70" "2" "166245498" "166245498" "subst" "0" "02326" "SCN2A_000158" "g.166245498C>T" "" "" "" "SCN2A(NM_021007.3):c.5182C>T (p.P1728S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388988C>T" "" "likely pathogenic" "" "0000301865" "0" "70" "2" "166245634" "166245634" "subst" "0" "02326" "SCN2A_000159" "g.166245634C>T" "" "" "" "SCN2A(NM_021007.3):c.5318C>T (p.A1773V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389124C>T" "" "likely pathogenic" "" "0000301866" "0" "30" "2" "166245642" "166245642" "subst" "0.00130591" "02326" "SCN2A_000160" "g.166245642C>T" "" "" "" "SCN2A(NM_021007.3):c.5326C>T (p.L1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389132C>T" "" "likely benign" "" "0000301867" "0" "30" "2" "166245713" "166245713" "subst" "0.000125983" "02326" "SCN2A_000161" "g.166245713T>C" "" "" "" "SCN2A(NM_021007.3):c.5397T>C (p.Y1799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389203T>C" "" "likely benign" "" "0000301868" "0" "50" "2" "166245787" "166245787" "subst" "0" "02326" "SCN2A_000162" "g.166245787C>A" "" "" "" "SCN2A(NM_021007.3):c.5471C>A (p.A1824D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389277C>A" "" "VUS" "" "0000301869" "0" "90" "2" "166165261" "166165261" "subst" "2.03341E-5" "02326" "SCN2A_000049" "g.166165261C>T" "" "" "" "SCN2A(NM_021007.3):c.562C>T (p.R188W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308751C>T" "" "pathogenic" "" "0000301870" "0" "50" "2" "166245963" "166245963" "subst" "0" "02326" "SCN2A_000163" "g.166245963T>A" "" "" "" "SCN2A(NM_021007.3):c.5647T>A (p.F1883I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389453T>A" "" "VUS" "" "0000301871" "0" "10" "2" "166152389" "166152389" "subst" "0.0842359" "02326" "SCN2A_000037" "g.166152389G>A" "" "" "" "SCN2A(NM_021007.3):c.56G>A (p.R19K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295879G>A" "" "benign" "" "0000301872" "0" "30" "2" "166246073" "166246073" "subst" "0.000158966" "02326" "SCN2A_000164" "g.166246073C>T" "" "" "" "SCN2A(NM_021007.3):c.5757C>T (p.Y1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389563C>T" "" "likely benign" "" "0000301873" "0" "10" "2" "166246226" "166246226" "subst" "0.00408866" "02326" "SCN2A_000165" "g.166246226G>A" "" "" "" "SCN2A(NM_021007.2):c.5910G>A (p.T1970=), SCN2A(NM_021007.3):c.5910G>A (p.T1970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389716G>A" "" "benign" "" "0000301874" "0" "30" "2" "166246235" "166246235" "subst" "0.00230252" "02326" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389725C>T" "" "likely benign" "" "0000301875" "0" "90" "2" "166165305" "166165305" "subst" "0" "02326" "SCN2A_000023" "g.166165305G>A" "" "" "" "SCN2A(NM_001040143.2):c.605+1G>A, SCN2A(NM_021007.3):c.605+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308795G>A" "" "pathogenic" "" "0000301876" "0" "30" "2" "166165361" "166165361" "subst" "0" "02326" "SCN2A_000050" "g.166165361T>A" "" "" "" "SCN2A(NM_021007.3):c.605+57T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165308851T>A" "" "likely benign" "" "0000301877" "0" "70" "2" "166165879" "166165879" "subst" "0" "02326" "SCN2A_000051" "g.166165879T>C" "" "" "" "SCN2A(NM_021007.3):c.623T>C (p.V208A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309369T>C" "" "likely pathogenic" "" "0000301878" "0" "30" "2" "166166077" "166166077" "subst" "0" "02326" "SCN2A_000053" "g.166166077G>A" "" "" "" "SCN2A(NM_021007.3):c.697+124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309567G>A" "" "likely benign" "" "0000301879" "0" "30" "2" "166166017" "166166017" "subst" "0" "02326" "SCN2A_000052" "g.166166017G>A" "" "" "" "SCN2A(NM_021007.3):c.697+64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309507G>A" "" "likely benign" "" "0000301880" "0" "90" "2" "166166916" "166166916" "subst" "0" "02326" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310406G>A" "" "pathogenic" "" "0000301881" "0" "90" "2" "166166923" "166166923" "subst" "0" "02326" "SCN2A_000055" "g.166166923C>T" "" "" "" "SCN2A(NM_021007.3):c.788C>T (p.A263V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310413C>T" "" "pathogenic" "" "0000301882" "0" "90" "2" "166166958" "166166958" "subst" "0" "02326" "SCN2A_000056" "g.166166958C>T" "" "" "" "SCN2A(NM_021007.3):c.823C>T (p.R275*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310448C>T" "" "pathogenic" "" "0000307742" "0" "50" "2" "166172209" "166172209" "subst" "1.23485E-5" "01943" "SCN2A_000072" "g.166172209C>T" "" "" "" "SCN2A(NM_021007.2):c.1612C>T (p.R538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315699C>T" "" "VUS" "" "0000307743" "0" "50" "2" "166172220" "166172220" "subst" "2.0581E-5" "01943" "SCN2A_000073" "g.166172220G>A" "" "" "" "SCN2A(NM_021007.2):c.1623G>A (p.L541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165315710G>A" "" "VUS" "" "0000307744" "0" "90" "2" "166198954" "166198954" "del" "0" "01943" "SCN2A_000091" "g.166198954del" "" "" "" "SCN2A(NM_021007.2):c.2537delT (p.L846Cfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342444del" "" "pathogenic" "" "0000307745" "0" "90" "2" "166198958" "166198962" "del" "0" "01943" "SCN2A_000092" "g.166198958_166198962del" "" "" "" "SCN2A(NM_021007.2):c.2541_2545delAGTTC (p.V848Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342448_165342452del" "" "pathogenic" "" "0000307746" "0" "30" "2" "166223800" "166223800" "subst" "0.000853124" "01943" "SCN2A_000117" "g.166223800G>A" "" "" "" "SCN2A(NM_021007.2):c.3594G>A (p.R1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367290G>A" "" "likely benign" "" "0000307747" "0" "30" "2" "166231356" "166231356" "subst" "2.85372E-5" "01943" "SCN2A_000132" "g.166231356C>T" "" "" "" "SCN2A(NM_021007.2):c.4134C>T (p.S1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374846C>T" "" "likely benign" "" "0000307748" "0" "30" "2" "166246226" "166246226" "subst" "0.00408866" "01943" "SCN2A_000165" "g.166246226G>A" "" "" "" "SCN2A(NM_021007.2):c.5910G>A (p.T1970=), SCN2A(NM_021007.3):c.5910G>A (p.T1970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165389716G>A" "" "likely benign" "" "0000327414" "0" "30" "2" "166152415" "166152415" "subst" "0.000252248" "01804" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295905C>T" "" "likely benign" "" "0000327416" "0" "50" "2" "166152448" "166152448" "subst" "0" "01804" "SCN2A_000040" "g.166152448C>T" "" "" "" "SCN2A(NM_021007.2):c.115C>T (p.(Gln39Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295938C>T" "" "VUS" "" "0000327417" "0" "50" "2" "166170434" "166170434" "subst" "4.06461E-6" "01804" "SCN2A_000066" "g.166170434C>T" "" "" "" "SCN2A(NM_001040142.1):c.1199C>T (p.(Thr400Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165313924C>T" "" "VUS" "" "0000327419" "0" "50" "2" "166198975" "166198975" "subst" "0" "01804" "SCN2A_000093" "g.166198975G>A" "" "" "" "SCN2A(NM_021007.2):c.2558G>A (p.(Arg853Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165342465G>A" "" "VUS" "" "0000327421" "0" "30" "2" "166201225" "166201225" "subst" "0.00434083" "01804" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165344715A>G" "" "likely benign" "" "0000327422" "0" "50" "2" "166231443" "166231443" "subst" "0" "01804" "SCN2A_000133" "g.166231443C>A" "" "" "" "SCN2A(NM_001040142.1):c.4221C>A (p.(Asn1407Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374933C>A" "" "VUS" "" "0000327423" "0" "50" "2" "166237699" "166237699" "subst" "0" "01804" "SCN2A_000139" "g.166237699C>T" "" "" "" "SCN2A(NM_021007.2):c.4543C>T (p.(Arg1515Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381189C>T" "" "VUS" "" "0000341314" "0" "90" "2" "166166923" "166166923" "subst" "0" "02327" "SCN2A_000055" "g.166166923C>T" "" "" "" "SCN2A(NM_021007.3):c.788C>T (p.A263V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310413C>T" "" "pathogenic" "" "0000341849" "0" "50" "2" "166229840" "166229840" "subst" "4.06971E-6" "02327" "SCN2A_000177" "g.166229840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165373330C>T" "" "VUS" "" "0000342034" "0" "90" "2" "166245220" "166245220" "subst" "0" "02327" "SCN2A_000182" "g.166245220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388710G>A" "" "pathogenic" "" "0000342545" "0" "10" "2" "166152415" "166152415" "subst" "0.000252248" "02327" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165295905C>T" "" "benign" "" "0000343167" "0" "90" "2" "166179813" "166179813" "subst" "0" "02327" "SCN2A_000173" "g.166179813C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165323303C>T" "" "pathogenic" "" "0000343868" "0" "50" "2" "166210891" "166210891" "subst" "0" "02327" "SCN2A_000174" "g.166210891G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165354381G>A" "" "VUS" "" "0000344570" "0" "90" "2" "166243265" "166243265" "subst" "0" "02327" "SCN2A_000002" "g.166243265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386755C>T" "" "pathogenic" "" "0000345083" "0" "90" "2" "166223837" "166223837" "subst" "0" "02327" "SCN2A_000175" "g.166223837G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165367327G>A" "" "pathogenic" "" "0000346587" "0" "70" "2" "166243314" "166243314" "subst" "0" "02327" "SCN2A_000180" "g.166243314T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165386804T>G" "" "likely pathogenic" "" "0000346818" "0" "90" "2" "165986748" "165986748" "subst" "0" "02327" "SCN3A_000001" "g.165986748A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165130238A>G" "" "pathogenic" "" "0000346927" "0" "90" "2" "166245157" "166245157" "subst" "0" "02327" "SCN2A_000181" "g.166245157T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165388647T>G" "" "pathogenic" "" "0000347986" "0" "50" "2" "166165724" "166165724" "subst" "0" "02327" "SCN2A_000168" "g.166165724T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165309214T>A" "" "VUS" "" "0000348730" "0" "50" "2" "166237673" "166237673" "subst" "0" "02327" "SCN2A_000179" "g.166237673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165381163C>T" "" "VUS" "" "0000348914" "0" "50" "2" "166167016" "166167016" "subst" "0" "02327" "SCN2A_000169" "g.166167016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165310506C>T" "" "VUS" "" "0000349691" "0" "90" "2" "166231415" "166231415" "subst" "0" "02327" "SCN2A_000178" "g.166231415G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374905G>A" "" "pathogenic" "" "0000350091" "0" "90" "2" "166170518" "166170518" "subst" "0" "02327" "SCN2A_000171" "g.166170518A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165314008A>G" "" "pathogenic" "" "0000350276" "0" "50" "2" "166231195" "166231195" "subst" "0" "02327" "SCN2A_000131" "g.166231195G>A" "" "" "" "SCN2A(NM_021007.3):c.3973G>A (p.V1325I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165374685G>A" "" "VUS" "" "0000350964" "0" "70" "2" "166168532" "166168532" "subst" "0" "02327" "SCN2A_000170" "g.166168532T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.165312022T>G" "" "likely pathogenic" "" "0000356915" "0" "90" "2" "166170214" "166170214" "del" "0" "01807" "SCN2A_000184" "g.166170214del" "" "" "" "1119delC" "" "Unknown" "" "" "0" "" "" "g.165313704del" "" "pathogenic" "" "0000367859" "0" "90" "2" "166234155" "166234155" "subst" "0" "01807" "SCN2A_000136" "g.166234155C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.165377645C>T" "" "pathogenic" "" "0000400780" "0" "70" "2" "166245724" "166245724" "subst" "0" "02552" "SCN2A_000185" "g.166245724A>G" "" "{PMID:Papuc 2019:30552426}, {PMID:Begemann 2019:30813884}" "" "" "" "De novo" "" "" "0" "" "" "g.165389214A>G" "" "likely pathogenic (dominant)" "" "0000407948" "0" "90" "2" "166231415" "166231415" "subst" "0" "00006" "SCN2A_000178" "g.166231415G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_021007.2:c.4193G>A (Trp1398*)" "" "De novo" "" "" "0" "" "" "g.165374905G>A" "" "pathogenic" "" "0000437552" "0" "70" "2" "166166865" "166166865" "subst" "0" "01807" "SCN2A_000186" "g.166166865T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.165310355T>C" "" "likely pathogenic" "" "0000509806" "0" "30" "2" "165996020" "165996020" "subst" "0.00343235" "02327" "SCN2A_000187" "g.165996020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165139510C>T" "" "likely benign" "" "0000509807" "0" "50" "2" "166021023" "166021023" "subst" "0" "02327" "SCN2A_000188" "g.166021023A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165164513A>G" "" "VUS" "" "0000509809" "0" "50" "2" "166032823" "166032823" "subst" "8.13206E-6" "02327" "SCN2A_000190" "g.166032823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176313G>A" "" "VUS" "" "0000509810" "0" "50" "2" "166032873" "166032873" "subst" "0" "02327" "SCN2A_000191" "g.166032873G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176363G>T" "" "VUS" "" "0000509811" "0" "50" "2" "166152415" "166152415" "subst" "0.000252248" "01943" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "VUS" "" "0000509812" "0" "50" "2" "166152415" "166152415" "subst" "0.000252248" "02325" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "VUS" "" "0000509813" "0" "30" "2" "166152415" "166152415" "subst" "0.000252248" "02326" "SCN2A_000038" "g.166152415C>T" "" "" "" "SCN2A(NM_001040142.1):c.82C>T (p.R28C, p.(Arg28Cys)), SCN2A(NM_021007.2):c.82C>T (p.R28C), SCN2A(NM_021007.3):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165295905C>T" "" "likely benign" "" "0000509814" "0" "30" "2" "166153475" "166153475" "subst" "0" "02326" "SCN2A_000192" "g.166153475T>C" "" "" "" "SCN2A(NM_021007.3):c.268-52T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165296965T>C" "" "likely benign" "" "0000509815" "0" "30" "2" "166153529" "166153529" "subst" "2.50296E-5" "01804" "SCN2A_000193" "g.166153529G>A" "" "" "" "SCN2A(NM_001040142.1):c.270G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165297019G>A" "" "likely benign" "" "0000509816" "0" "90" "2" "166153563" "166153563" "subst" "0" "02327" "SCN2A_000021" "g.166153563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165297053C>T" "" "pathogenic" "" "0000509817" "0" "50" "2" "166164326" "166164326" "subst" "2.03376E-5" "02326" "SCN2A_000194" "g.166164326A>G" "" "" "" "SCN2A(NM_021007.3):c.387-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307816A>G" "" "VUS" "" "0000509818" "0" "30" "2" "166164385" "166164385" "subst" "2.43871E-5" "01943" "SCN2A_000195" "g.166164385G>A" "" "" "" "SCN2A(NM_021007.2):c.414G>A (p.T138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307875G>A" "" "likely benign" "" "0000509819" "0" "70" "2" "166164386" "166164386" "subst" "0" "02327" "SCN2A_000196" "g.166164386A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165307876A>G" "" "likely pathogenic" "" "0000509820" "0" "50" "2" "166165187" "166165187" "subst" "0" "02326" "SCN2A_000197" "g.166165187C>G" "" "" "" "SCN2A(NM_021007.3):c.488C>G (p.T163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165308677C>G" "" "VUS" "" "0000509821" "0" "90" "2" "166165879" "166165879" "subst" "0" "02327" "SCN2A_000198" "g.166165879T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165309369T>G" "" "pathogenic" "" "0000509822" "0" "10" "2" "166166056" "166166056" "subst" "0" "02326" "SCN2A_000199" "g.166166056T>C" "" "" "" "SCN2A(NM_021007.3):c.697+103T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165309546T>C" "" "benign" "" "0000509823" "0" "90" "2" "166166916" "166166916" "subst" "0" "02327" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165310406G>A" "" "pathogenic" "" "0000509825" "0" "70" "2" "166170189" "166170189" "subst" "0" "02327" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313679C>T" "" "likely pathogenic" "" "0000509826" "0" "70" "2" "166170419" "166170419" "subst" "0" "01804" "SCN2A_000201" "g.166170419G>A" "" "" "" "SCN2A(NM_001040142.2):c.1184G>A (p.(Arg395His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313909G>A" "" "likely pathogenic" "" "0000509827" "0" "50" "2" "166171996" "166171996" "subst" "0" "02327" "SCN2A_000068" "g.166171996G>T" "" "" "" "SCN2A(NM_021007.3):c.1399G>T (p.A467S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315486G>T" "" "VUS" "" "0000509828" "0" "50" "2" "166172087" "166172087" "subst" "1.64547E-5" "02327" "SCN2A_000001" "g.166172087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315577G>A" "" "VUS" "" "0000509829" "0" "30" "2" "166179836" "166179836" "subst" "0.0020939" "02326" "SCN2A_000202" "g.166179836G>T" "" "" "" "SCN2A(NM_021007.3):c.1842G>T (p.P614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323326G>T" "" "likely benign" "" "0000509830" "0" "30" "2" "166179953" "166179953" "subst" "0.00380682" "02326" "SCN2A_000203" "g.166179953G>A" "" "" "" "SCN2A(NM_001040142.2):c.1959G>A (p.V653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323443G>A" "" "likely benign" "" "0000509831" "0" "30" "2" "166183327" "166183327" "subst" "0" "02326" "SCN2A_000204" "g.166183327A>T" "" "" "" "SCN2A(NM_021007.3):c.2017-35A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326817A>T" "" "likely benign" "" "0000509832" "0" "30" "2" "166183388" "166183388" "subst" "8.12605E-6" "01943" "SCN2A_000205" "g.166183388A>G" "" "" "" "SCN2A(NM_021007.2):c.2043A>G (p.R681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326878A>G" "" "likely benign" "" "0000509833" "0" "30" "2" "166183395" "166183395" "subst" "0.000178804" "02326" "SCN2A_000206" "g.166183395C>T" "" "" "" "SCN2A(NM_021007.3):c.2050C>T (p.R684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165326885C>T" "" "likely benign" "" "0000509834" "0" "30" "2" "166183677" "166183677" "del" "0" "02326" "SCN2A_000207" "g.166183677del" "" "" "" "SCN2A(NM_021007.3):c.2149+183delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165327167del" "" "likely benign" "" "0000509835" "0" "30" "2" "166187895" "166187895" "subst" "0" "01804" "SCN2A_000208" "g.166187895G>A" "" "" "" "SCN2A(NM_001040142.1):c.2205G>A (p.(Met735Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165331385G>A" "" "likely benign" "" "0000509836" "0" "30" "2" "166198758" "166198758" "subst" "0.00196705" "02326" "SCN2A_000016" "g.166198758G>A" "" "" "" "SCN2A(NM_021007.3):c.2389-48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165342248G>A" "" "likely benign" "" "0000509837" "0" "70" "2" "166198965" "166198965" "subst" "0" "02327" "SCN2A_000209" "g.166198965C>T" "" "" "" "SCN2A(NM_001040142.1):c.2548C>T (p.(Arg850*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165342455C>T" "" "likely pathogenic" "" "0000509838" "0" "90" "2" "166201144" "166201144" "subst" "0" "02327" "SCN2A_000096" "g.166201144T>C" "" "" "" "SCN2A(NM_021007.3):c.2642T>C (p.L881P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344634T>C" "" "pathogenic" "" "0000509839" "0" "70" "2" "166201144" "166201144" "subst" "0" "02326" "SCN2A_000096" "g.166201144T>C" "" "" "" "SCN2A(NM_021007.3):c.2642T>C (p.L881P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344634T>C" "" "likely pathogenic" "" "0000509840" "0" "10" "2" "166201225" "166201225" "subst" "0.00434083" "02325" "SCN2A_000098" "g.166201225A>G" "" "" "" "SCN2A(NM_001040142.1):c.2723A>G (p.(Lys908Arg)), SCN2A(NM_021007.3):c.2723A>G (p.K908R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165344715A>G" "" "benign" "" "0000509842" "0" "30" "2" "166210905" "166210905" "subst" "9.76523E-5" "02326" "SCN2A_000211" "g.166210905G>A" "" "" "" "SCN2A(NM_021007.3):c.3123G>A (p.P1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165354395G>A" "" "likely benign" "" "0000509843" "0" "30" "2" "166210992" "166210992" "subst" "9.34344E-5" "02326" "SCN2A_000212" "g.166210992C>T" "" "" "" "SCN2A(NM_021007.3):c.3210C>T (p.D1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165354482C>T" "" "likely benign" "" "0000509844" "0" "30" "2" "166221706" "166221706" "subst" "0.000909792" "01943" "SCN2A_000111" "g.166221706C>T" "" "" "" "SCN2A(NM_021007.2):c.3453C>T (p.P1151=), SCN2A(NM_021007.3):c.3453C>T (p.P1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165365196C>T" "" "likely benign" "" "0000509845" "0" "10" "2" "166221958" "166221958" "dup" "0" "02326" "SCN2A_000213" "g.166221958dup" "" "" "" "SCN2A(NM_021007.3):c.3520+185dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165365448dup" "" "benign" "" "0000509847" "0" "30" "2" "166223785" "166223785" "subst" "0.000146227" "02326" "SCN2A_000215" "g.166223785C>A" "" "" "" "SCN2A(NM_021007.3):c.3579C>A (p.L1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165367275C>A" "" "likely benign" "" "0000509849" "0" "10" "2" "166223900" "166223900" "subst" "0.00351912" "02326" "SCN2A_000217" "g.166223900A>G" "" "" "" "SCN2A(NM_021007.3):c.3675+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165367390A>G" "" "benign" "" "0000509851" "0" "30" "2" "166226827" "166226827" "subst" "4.06792E-6" "02326" "SCN2A_000219" "g.166226827T>C" "" "" "" "SCN2A(NM_021007.3):c.3849+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165370317T>C" "" "likely benign" "" "0000509852" "0" "90" "2" "166229841" "166229841" "subst" "0" "02327" "SCN2A_000220" "g.166229841G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165373331G>T" "" "pathogenic" "" "0000509854" "0" "50" "2" "166231260" "166231260" "subst" "0" "02329" "SCN2A_000222" "g.166231260C>G" "" "" "" "SCN2A(NM_021007.3):c.4038C>G (p.I1346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165374750C>G" "" "VUS" "" "0000509855" "0" "50" "2" "166231368" "166231368" "subst" "0" "01943" "SCN2A_000223" "g.166231368C>G" "" "" "" "SCN2A(NM_021007.2):c.4146C>G (p.N1382K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165374858C>G" "" "VUS" "" "0000509856" "0" "10" "2" "166234076" "166234076" "subst" "0.256148" "02326" "SCN2A_000224" "g.166234076A>G" "" "" "" "SCN2A(NM_021007.3):c.4255-31A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165377566A>G" "" "benign" "" "0000509857" "0" "30" "2" "166234081" "166234081" "del" "0" "02326" "SCN2A_000225" "g.166234081del" "" "" "" "SCN2A(NM_021007.3):c.4255-26delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165377571del" "" "likely benign" "" "0000509859" "0" "30" "2" "166237695" "166237695" "subst" "0.000426548" "01943" "SCN2A_000227" "g.166237695A>T" "" "" "" "SCN2A(NM_021007.2):c.4539A>T (p.I1513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165381185A>T" "" "likely benign" "" "0000509860" "0" "30" "2" "166238957" "166238957" "subst" "0" "02326" "SCN2A_000228" "g.166238957G>A" "" "" "" "SCN2A(NM_021007.3):c.4551+1250G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165382447G>A" "" "likely benign" "" "0000509861" "0" "30" "2" "166243167" "166243167" "subst" "0" "02326" "SCN2A_000229" "g.166243167C>T" "" "" "" "SCN2A(NM_021007.3):c.4552-89C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165386657C>T" "" "likely benign" "" "0000509863" "0" "30" "2" "166245784" "166245784" "subst" "0.00026828" "01943" "SCN2A_000231" "g.166245784A>C" "" "" "" "SCN2A(NM_021007.2):c.5468A>C (p.D1823A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389274A>C" "" "likely benign" "" "0000509864" "0" "90" "2" "166245960" "166245960" "subst" "0" "02329" "SCN2A_000232" "g.166245960C>G" "" "" "" "SCN2A(NM_021007.3):c.5644C>G (p.R1882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389450C>G" "" "pathogenic" "" "0000509865" "0" "10" "2" "166246235" "166246235" "subst" "0.00230252" "01943" "SCN2A_000166" "g.166246235C>T" "" "" "" "SCN2A(NM_021007.2):c.5919C>T (p.P1973=), SCN2A(NM_021007.3):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389725C>T" "" "benign" "" "0000509866" "0" "30" "2" "166246271" "166246271" "subst" "5.3112E-5" "01943" "SCN2A_000233" "g.166246271A>G" "" "" "" "SCN2A(NM_021007.2):c.5955A>G (p.K1985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389761A>G" "" "likely benign" "" "0000592562" "0" "70" "2" "166246318" "166246318" "subst" "1.68751E-5" "00006" "SCN2A_000234" "g.166246318G>A" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "rs771968887" "0" "" "" "g.165389808G>A" "" "VUS" "" "0000604474" "0" "50" "2" "166210846" "166210846" "subst" "0" "03512" "SCN2A_000235" "g.166210846C>T" "" "{PMID:Minardi 2020:32725632}" "" "" "brother wild type, parents\' DNA not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.165354336C>T" "" "VUS" "" "0000606197" "0" "10" "2" "165984284" "165984284" "subst" "0.00506519" "02327" "SCN2A_000236" "g.165984284C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127774C>T" "" "benign" "" "0000606198" "0" "30" "2" "165984303" "165984303" "subst" "1.62468E-5" "02327" "SCN2A_000237" "g.165984303T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127793T>G" "" "likely benign" "" "0000606199" "0" "30" "2" "165984424" "165984424" "subst" "5.68967E-5" "02327" "SCN2A_000238" "g.165984424A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165127914A>G" "" "likely benign" "" "0000606200" "0" "50" "2" "165997235" "165997235" "subst" "0" "02327" "SCN2A_000239" "g.165997235C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140725C>A" "" "VUS" "" "0000606201" "0" "50" "2" "165997340" "165997340" "subst" "0" "02327" "SCN2A_000240" "g.165997340G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140830G>A" "" "VUS" "" "0000606202" "0" "30" "2" "165997430" "165997430" "subst" "0" "02327" "SCN2A_000241" "g.165997430C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165140920C>A" "" "likely benign" "" "0000606203" "0" "30" "2" "166003301" "166003301" "subst" "0.00155196" "02327" "SCN2A_000242" "g.166003301G>A" "" "" "" "SCN3A(NM_006922.3):c.1619C>T (p.S540F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165146791G>A" "" "likely benign" "" "0000606204" "0" "30" "2" "166003520" "166003520" "subst" "8.5615E-5" "02327" "SCN2A_000243" "g.166003520G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165147010G>A" "" "likely benign" "" "0000606205" "0" "50" "2" "166020953" "166020953" "subst" "2.84555E-5" "02327" "SCN2A_000244" "g.166020953G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165164443G>A" "" "VUS" "" "0000606206" "0" "30" "2" "166025290" "166025290" "subst" "0.000117974" "02327" "SCN2A_000245" "g.166025290T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165168780T>A" "" "likely benign" "" "0000606207" "0" "10" "2" "166032734" "166032734" "subst" "0.000739212" "02327" "SCN2A_000246" "g.166032734A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165176224A>G" "" "benign" "" "0000606208" "0" "50" "2" "166170445" "166170445" "subst" "0" "02325" "SCN2A_000247" "g.166170445T>C" "" "" "" "SCN2A(NM_021007.3):c.1210T>C (p.F404L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165313935T>C" "" "VUS" "" "0000606209" "0" "70" "2" "166179741" "166179741" "subst" "0" "02327" "SCN2A_000248" "g.166179741C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165323231C>T" "" "likely pathogenic" "" "0000606210" "0" "90" "2" "166245192" "166245192" "subst" "0" "02327" "SCN2A_000249" "g.166245192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165388682C>T" "" "pathogenic" "" "0000606211" "0" "90" "2" "166245633" "166245633" "subst" "0" "01943" "SCN2A_000250" "g.166245633G>A" "" "" "" "SCN2A(NM_021007.2):c.5317G>A (p.A1773T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389123G>A" "" "pathogenic" "" "0000606212" "0" "50" "2" "166246021" "166246021" "subst" "4.48189E-5" "02325" "SCN2A_000251" "g.166246021G>A" "" "" "" "SCN2A(NM_021007.3):c.5705G>A (p.R1902H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165389511G>A" "" "VUS" "" "0000629297" "20" "90" "2" "166210730" "166210730" "subst" "0" "00006" "SCN2A_000252" "g.166210730T>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "high genotype/phenotype correlation" "De novo" "" "" "0" "" "" "g.165354220T>G" "" "pathogenic (dominant)" "" "0000650165" "1" "70" "2" "166198975" "166198975" "subst" "0" "03575" "SCN2A_000093" "g.166198975G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs794727152}" "Germline" "" "rs794727152" "0" "" "" "g.165342465G>A" "" "likely pathogenic" "" "0000650166" "1" "70" "2" "166201197" "166201197" "subst" "0" "03575" "SCN2A_000253" "g.166201197G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796053120}" "Germline" "" "rs796053120" "0" "" "" "g.165344687G>A" "" "likely pathogenic" "" "0000650167" "1" "70" "2" "166221687" "166221687" "subst" "0" "03575" "SCN2A_000254" "g.166221687C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796053128}" "Germline" "" "rs796053128" "0" "" "" "g.165365177C>T" "" "likely pathogenic" "" "0000650168" "1" "90" "2" "166231258" "166231258" "subst" "0" "03575" "SCN2A_000256" "g.166231258A>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs796053135}" "Germline" "" "rs796053135" "0" "" "" "g.165374748A>G" "" "pathogenic" "" "0000653029" "1" "90" "2" "166229829" "166229829" "subst" "0" "03575" "SCN2A_000255" "g.166229829G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs796053129}" "Germline" "" "rs796053129" "0" "" "" "g.165373319G>A" "" "pathogenic" "" "0000654238" "0" "30" "2" "165994464" "165994464" "subst" "0" "02327" "SCN2A_000257" "g.165994464T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165137954T>C" "" "likely benign" "" "0000654239" "0" "50" "2" "166018813" "166018813" "subst" "0" "02327" "SCN2A_000258" "g.166018813C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165162303C>T" "" "VUS" "" "0000654240" "0" "70" "2" "166168533" "166168533" "subst" "0" "02327" "SCN2A_000259" "g.166168533A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165312023A>G" "" "likely pathogenic" "" "0000654241" "0" "30" "2" "166172013" "166172013" "subst" "0.000295637" "02326" "SCN2A_000069" "g.166172013A>G" "" "" "" "SCN2A(NM_021007.2):c.1416A>G (p.R472=), SCN2A(NM_021007.3):c.1416A>G (p.R472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165315503A>G" "" "likely benign" "" "0000654242" "0" "50" "2" "166245211" "166245211" "subst" "0" "02329" "SCN2A_000260" "g.166245211G>A" "" "" "" "SCN2A(NM_001040143.2):c.4895G>A (p.R1632K), SCN2A(NM_021007.3):c.4895G>A (p.R1632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.165388701G>A" "" "VUS" "" "0000665615" "0" "50" "2" "166210846" "166210846" "subst" "0" "03512" "SCN2A_000235" "g.166210846C>T" "" "{PMID:Minardi 2020:32725632}" "" "" "brother wt" "Germline" "" "" "0" "" "" "g.165354336C>T" "" "VUS" "" "0000665793" "0" "50" "2" "166170611" "166170611" "subst" "8.99825E-5" "01164" "SCN2A_000262" "g.166170611A>C" "" "" "" "" "" "Germline" "" "rs184769423" "0" "" "" "g.165314101A>C" "" "VUS" "" "0000666139" "0" "70" "2" "166245292" "166245292" "subst" "0" "01807" "SCN2A_000263" "g.166245292C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.165388782C>T" "" "likely pathogenic" "" "0000667574" "0" "90" "2" "166201147" "166201147" "subst" "0" "00006" "SCN2A_000265" "g.166201147G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.165344637G>A" "" "pathogenic (dominant)" "ACMG" "0000667576" "0" "90" "2" "166245624" "166245624" "subst" "0" "00006" "SCN2A_000269" "g.166245624A>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.165389114A>T" "" "pathogenic (dominant)" "ACMG" "0000667672" "0" "90" "2" "166164379" "166164379" "subst" "0" "00006" "SCN2A_000264" "g.166164379G>T" "" "{PMID:Carvill 2013:23708187}" "" "" "" "De novo" "" "" "0" "" "" "g.165307869G>T" "" "pathogenic (dominant)" "" "0000667673" "0" "90" "2" "166201217" "166201217" "subst" "0" "00006" "SCN2A_000266" "g.166201217G>C" "" "{PMID:Carvill 2013:23708187}" "" "" "" "De novo" "" "" "0" "" "" "g.165344707G>C" "" "pathogenic (dominant)" "" "0000667674" "0" "70" "2" "166201285" "166201285" "subst" "0" "00006" "SCN2A_000267" "g.166201285T>G" "" "{PMID:Carvill 2013:23708187}" "" "" "father unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.165344775T>G" "" "likely pathogenic (dominant)" "" "0000667675" "0" "90" "2" "166210843" "166210843" "del" "0" "00006" "SCN2A_000268" "g.166210843del" "" "{PMID:Carvill 2013:23708187}" "" "c.1154delC" "" "De novo" "" "" "0" "" "" "g.165354333del" "" "pathogenic (dominant)" "" "0000667676" "0" "90" "2" "166245961" "166245961" "subst" "0" "00006" "SCN2A_000270" "g.166245961G>A" "" "{PMID:Carvill 2013:23708187}" "" "" "" "De novo" "" "" "0" "" "" "g.165389451G>A" "" "pathogenic (dominant)" "" "0000673981" "0" "70" "2" "166187995" "166187995" "subst" "0" "03695" "SCN2A_000271" "g.166187995A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676071" "0" "30" "2" "165994637" "165994637" "subst" "8.1475E-5" "01943" "SCN2A_000272" "g.165994637C>A" "" "" "" "SCN3A(NM_006922.3):c.2153-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676072" "0" "30" "2" "166164403" "166164403" "subst" "1.21923E-5" "02326" "SCN2A_000273" "g.166164403A>G" "" "" "" "SCN2A(NM_021007.3):c.432A>G (p.V144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676073" "0" "70" "2" "166243313" "166243313" "subst" "0" "02327" "SCN2A_000274" "g.166243313A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683339" "0" "70" "2" "166198965" "166198965" "subst" "0" "00006" "SCN2A_000209" "g.166198965C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.165342455C>T" "" "likely pathogenic (dominant)" "" "0000683340" "0" "70" "2" "166179816" "166179816" "subst" "0" "00006" "SCN2A_000275" "g.166179816A>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.165323306A>T" "" "likely pathogenic (dominant)" "" "0000688365" "0" "30" "2" "165986770" "165986770" "subst" "0.00028431" "02327" "SCN2A_000276" "g.165986770G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688366" "0" "30" "2" "166003301" "166003301" "subst" "0.00155196" "01943" "SCN2A_000242" "g.166003301G>A" "" "" "" "SCN3A(NM_006922.3):c.1619C>T (p.S540F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688367" "0" "30" "2" "166012341" "166012341" "subst" "0" "02327" "SCN2A_000277" "g.166012341G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688368" "0" "50" "2" "166020158" "166020158" "subst" "0" "02325" "SCN2A_000278" "g.166020158G>A" "" "" "" "SCN3A(NM_006922.4):c.664C>T (p.R222*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688369" "0" "90" "2" "166226663" "166226663" "subst" "0" "02325" "SCN2A_000279" "g.166226663C>T" "" "" "" "SCN2A(NM_021007.3):c.3703C>T (p.R1235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688370" "0" "90" "2" "166243481" "166243481" "subst" "0" "02327" "SCN2A_000280" "g.166243481G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688371" "0" "70" "2" "166245952" "166245952" "subst" "0" "02325" "SCN2A_000281" "g.166245952T>C" "" "" "" "SCN2A(NM_021007.3):c.5636T>C (p.M1879T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000710190" "0" "90" "2" "166245274" "166245274" "del" "0" "00006" "SCN2A_000282" "g.166245274del" "" "{PMID:Hong 2020:33333793}" "" "" "" "De novo" "" "" "0" "" "" "g.165388764del" "" "pathogenic (dominant)" "" "0000717930" "0" "50" "2" "166019242" "166019242" "subst" "4.06144E-6" "02327" "SCN2A_000283" "g.166019242A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717931" "0" "50" "2" "166167069" "166167069" "subst" "0" "02329" "SCN2A_000200" "g.166167069A>G" "" "" "" "SCN2A(NM_021007.3):c.934A>G (p.S312G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717932" "0" "70" "2" "166201266" "166201266" "subst" "0" "02329" "SCN2A_000210" "g.166201266C>T" "" "" "" "SCN2A(NM_021007.3):c.2764C>T (p.R922C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717933" "0" "70" "2" "166201327" "166201327" "subst" "0" "02329" "SCN2A_000099" "g.166201327A>T" "" "" "" "SCN2A(NM_001040142.2):c.2825A>T (p.E942V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717934" "0" "90" "2" "166234153" "166234153" "subst" "0" "01943" "SCN2A_000284" "g.166234153C>G" "" "" "" "SCN2A(NM_021007.2):c.4301C>G (p.S1434*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717935" "0" "90" "2" "166237229" "166237229" "subst" "0" "02329" "SCN2A_000226" "g.166237229A>C" "" "" "" "SCN2A(NM_021007.3):c.4436A>C (p.Q1479P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717936" "0" "30" "2" "166243269" "166243269" "subst" "0.000839617" "01943" "SCN2A_000005" "g.166243269G>C" "" "" "" "SCN2A(NM_021007.2):c.4565G>C (p.G1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717937" "0" "90" "2" "166243436" "166243436" "subst" "0" "02327" "SCN2A_000285" "g.166243436T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717938" "0" "70" "2" "166243470" "166243470" "subst" "0" "02329" "SCN2A_000230" "g.166243470A>G" "" "" "" "SCN2A(NM_021007.3):c.4766A>G (p.Y1589C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717939" "0" "70" "2" "166245801" "166245801" "subst" "0" "02329" "SCN2A_000261" "g.166245801C>T" "" "" "" "SCN2A(NM_001040143.2):c.5485C>T (p.L1829F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000784671" "0" "50" "2" "166221770" "166221770" "subst" "4.06154E-6" "01164" "SCN2A_000112" "g.166221770G>A" "" "" "" "" "ACMG: PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000787022" "0" "70" "2" "166237627" "166237627" "del" "0" "00006" "SCN2A_000287" "g.166237627del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.4471delA" "" "Germline" "" "" "0" "" "" "g.165381117del" "" "likely pathogenic" "" "0000787172" "0" "50" "2" "166198975" "166198975" "subst" "0" "00006" "SCN2A_000093" "g.166198975G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs794727152" "0" "" "" "g.165342465G>A" "{CV-RCV:000197677}" "VUS" "" "0000787382" "0" "50" "2" "166170455" "166170455" "subst" "0" "00006" "SCN2A_000286" "g.166170455T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.165313945T>C" "" "VUS" "" "0000787383" "0" "50" "2" "166245268" "166245268" "subst" "0" "00006" "SCN2A_000288" "g.166245268T>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.165388758T>A" "" "VUS" "" "0000787384" "0" "50" "2" "166245447" "166245447" "subst" "0" "00006" "SCN2A_000289" "g.166245447A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.165388937A>G" "" "VUS" "" "0000788915" "0" "70" "2" "166172123" "166172123" "subst" "0" "00006" "SCN2A_000290" "g.166172123A>G" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.165315613A>G" "" "likely pathogenic" "" "0000791066" "0" "50" "2" "166183441" "166183441" "subst" "0" "01164" "SCN2A_000291" "g.166183441C>T" "" "" "" "" "ACMG: PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000795867" "0" "50" "2" "166152349" "166152349" "subst" "0" "01164" "SCN2A_000292" "g.166152349C>A" "" "" "" "" "ACMG: PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000799754" "0" "50" "2" "165994438" "165994438" "subst" "0" "02327" "SCN2A_000293" "g.165994438T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799755" "0" "30" "2" "166012281" "166012281" "subst" "0" "02327" "SCN2A_000294" "g.166012281A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799756" "0" "50" "2" "166167058" "166167058" "subst" "2.44228E-5" "01943" "SCN2A_000295" "g.166167058A>G" "" "" "" "SCN2A(NM_021007.2):c.923A>G (p.N308S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799757" "0" "70" "2" "166170255" "166170255" "subst" "0" "02325" "SCN2A_000296" "g.166170255A>G" "" "" "" "SCN2A(NM_021007.3):c.1160A>G (p.E387G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799758" "0" "30" "2" "166180016" "166180016" "subst" "0" "01943" "SCN2A_000075" "g.166180016G>T" "" "" "" "SCN2A(NM_021007.2):c.2016+6G>T, SCN2A(NM_021007.3):c.2016+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799759" "0" "30" "2" "166187982" "166187982" "subst" "5.68953E-5" "01943" "SCN2A_000297" "g.166187982C>T" "" "" "" "SCN2A(NM_021007.2):c.2292C>T (p.A764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799760" "0" "30" "2" "166210995" "166210995" "subst" "0.000446831" "01943" "SCN2A_000298" "g.166210995A>C" "" "" "" "SCN2A(NM_021007.2):c.3213A>C (p.G1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849006" "0" "50" "2" "165984439" "165984439" "subst" "2.03249E-5" "01943" "SCN2A_000299" "g.165984439C>G" "" "" "" "SCN3A(NM_006922.3):c.3095G>C (p.R1032T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849007" "0" "30" "2" "165986732" "165986732" "subst" "0" "02327" "SCN2A_000300" "g.165986732C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849008" "0" "30" "2" "166003543" "166003543" "subst" "0.0001262" "02327" "SCN2A_000303" "g.166003543T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849009" "0" "30" "2" "166011006" "166011006" "subst" "0" "02327" "SCN2A_000304" "g.166011006G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849010" "0" "30" "2" "166019184" "166019184" "subst" "3.24921E-5" "02327" "SCN2A_000305" "g.166019184G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849011" "0" "30" "2" "166020150" "166020150" "subst" "0" "02327" "SCN2A_000306" "g.166020150C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849012" "0" "30" "2" "166020189" "166020189" "subst" "1.21854E-5" "02327" "SCN2A_000307" "g.166020189A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849013" "0" "90" "2" "166166916" "166166916" "subst" "0" "02325" "SCN2A_000054" "g.166166916G>A" "" "" "" "SCN2A(NM_021007.3):c.781G>A (p.V261M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000849014" "0" "50" "2" "166170207" "166170207" "subst" "0" "02329" "SCN2A_000311" "g.166170207G>A" "" "" "" "SCN2A(NM_001040143.2):c.1112G>A (p.S371N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849015" "0" "50" "2" "166223796" "166223796" "subst" "4.0618E-6" "01943" "SCN2A_000313" "g.166223796T>C" "" "" "" "SCN2A(NM_001040142.1):c.3590T>C (p.(Leu1197Ser)), SCN2A(NM_021007.2):c.3590T>C (p.L1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849016" "0" "90" "2" "166226663" "166226663" "subst" "0" "02327" "SCN2A_000279" "g.166226663C>T" "" "" "" "SCN2A(NM_021007.3):c.3703C>T (p.R1235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857808" "0" "30" "2" "166003488" "166003488" "subst" "4.06689E-6" "02327" "SCN2A_000301" "g.166003488A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857809" "0" "30" "2" "166003501" "166003501" "subst" "0" "02327" "SCN2A_000302" "g.166003501A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857810" "0" "50" "2" "166032639" "166032639" "subst" "0" "01804" "SCN2A_000308" "g.166032639A>C" "" "" "" "SCN3A(NM_001081676.1):c.264+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857811" "0" "70" "2" "166167081" "166167082" "del" "0" "01804" "SCN2A_000309" "g.166167081_166167082del" "" "" "" "SCN2A(NM_021007.2):c.946_947del (p.(Trp316Glyfs*2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857812" "0" "50" "2" "166170174" "166170174" "subst" "0" "02325" "SCN2A_000310" "g.166170174C>T" "" "" "" "SCN2A(NM_021007.3):c.1079C>T (p.P360L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857813" "0" "50" "2" "166188010" "166188010" "subst" "8.13233E-6" "02325" "SCN2A_000312" "g.166188010C>G" "" "" "" "SCN2A(NM_021007.3):c.2320C>G (p.L774V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871146" "0" "70" "2" "166166923" "166166923" "subst" "0" "00006" "SCN2A_000055" "g.166166923C>T" "" "{PMID:Halvardson 2016:27334371}" "" "C788T (A263V)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000877212" "0" "70" "2" "166198881" "166198881" "subst" "4.06237E-6" "00006" "SCN2A_000314" "g.166198881G>A" "" "{PMID:Fregeau 2016:27087320}" "" "" "variant 14/95 reads" "Somatic" "" "" "0" "" "" "" "" "VUS" "" "0000877970" "0" "70" "2" "166201069" "166201069" "subst" "0" "03559" "SCN2A_000315" "g.166201069G>A" "0" "{PMID:Tzialla 2022:36206969}" "" "" "" "De novo" "" "rs797045942" "0" "" "" "g.165344559G>A" "VCV000212125.13" "pathogenic (dominant)" "ACMG" "0000883835" "0" "30" "2" "166003397" "166003397" "subst" "0.000121885" "02327" "SCN2A_000316" "g.166003397T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883836" "0" "50" "2" "166012305" "166012305" "subst" "0" "02325" "SCN2A_000317" "g.166012305C>T" "" "" "" "SCN3A(NM_006922.4):c.1140G>A (p.M380I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883838" "0" "50" "2" "166152446" "166152446" "subst" "0" "02325" "SCN2A_000319" "g.166152446A>C" "" "" "" "SCN2A(NM_021007.3):c.113A>C (p.K38T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883839" "0" "90" "2" "166165305" "166165305" "subst" "0" "02329" "SCN2A_000023" "g.166165305G>A" "" "" "" "SCN2A(NM_001040143.2):c.605+1G>A, SCN2A(NM_021007.3):c.605+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883840" "0" "70" "2" "166166869" "166166869" "subst" "0" "02327" "SCN2A_000320" "g.166166869T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883841" "0" "90" "2" "166170526" "166170526" "subst" "0" "02327" "SCN2A_000321" "g.166170526C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883842" "0" "50" "2" "166183391" "166183391" "subst" "1.21897E-5" "02325" "SCN2A_000322" "g.166183391G>T" "" "" "" "SCN2A(NM_001040142.1):c.2046G>T (p.(Lys682Asn)), SCN2A(NM_021007.3):c.2046G>T (p.K682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883844" "0" "90" "2" "166234155" "166234155" "subst" "0" "02325" "SCN2A_000136" "g.166234155C>T" "" "" "" "SCN2A(NM_021007.3):c.4303C>T (p.R1435*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000902748" "0" "50" "2" "166245834" "166245834" "subst" "0" "01164" "SCN2A_000324" "g.166245834A>C" "" "" "" "" "ACMG: PM2_SUP, PP3, PP2" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000908541" "0" "70" "2" "166187996" "166187996" "subst" "0" "00006" "SCN2A_000088" "g.166187996T>C" "" "{PMID:Zhou 2018:29314583}" "" "I769T" "" "De novo" "" "" "0" "" "" "g.165331486T>C" "" "likely pathogenic" "ACMG" "0000908975" "0" "70" "2" "166166848" "166166848" "dup" "0" "01164" "SCN2A_000325" "g.166166848dup" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "g.165310338dup" "" "likely pathogenic (dominant)" "ACMG" "0000909973" "11" "70" "2" "166172018" "166172018" "subst" "0" "00006" "SCN2A_000326" "g.166172018T>A" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "father unaffected" "Germline" "" "" "0" "" "" "g.165315508T>A" "" "VUS" "" "0000911219" "0" "30" "2" "165986612" "165986612" "subst" "2.43669E-5" "02327" "SCN2A_000327" "g.165986612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911220" "0" "30" "2" "165994476" "165994476" "subst" "0.000817253" "02327" "SCN2A_000328" "g.165994476A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923323" "0" "30" "2" "165997188" "165997188" "subst" "4.06342E-5" "02327" "SCN2A_000329" "g.165997188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923324" "0" "30" "2" "166003543" "166003543" "subst" "1.22129E-5" "02327" "SCN2A_000330" "g.166003543T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923325" "0" "30" "2" "166018850" "166018850" "subst" "0.000134108" "02327" "SCN2A_000331" "g.166018850G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923326" "0" "50" "2" "166025323" "166025323" "subst" "0" "02327" "SCN2A_000332" "g.166025323C>T" "" "" "" "SCN3A(NM_006922.3):c.396G>A (p.(Met132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923327" "0" "70" "2" "166170231" "166170231" "subst" "0" "02327" "SCN2A_000333" "g.166170231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923328" "0" "50" "2" "166229813" "166229813" "subst" "0" "02327" "SCN2A_000334" "g.166229813G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923329" "0" "70" "2" "166243335" "166243335" "subst" "0" "02327" "SCN2A_000335" "g.166243335A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928296" "0" "90" "2" "166245960" "166245960" "subst" "0" "02327" "SCN2A_000232" "g.166245960C>G" "" "" "" "SCN2A(NM_021007.3):c.5644C>G (p.R1882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933341" "0" "70" "2" "166245851" "166245851" "del" "0" "01164" "SCN2A_000337" "g.166245851del" "" "" "" "" "ACMG: PVS1_STR, PS2_SUP, PM2_SUP" "De novo" "-" "" "" "" "" "g.165389341del" "" "likely pathogenic (dominant)" "ACMG" "0000935909" "0" "90" "2" "166211113" "166211114" "del" "0" "00006" "SCN2A_000340" "g.166211113_166211114del" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PS2,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.165354603_165354604del" "" "pathogenic (dominant)" "ACMG" "0000935956" "0" "90" "2" "166179831" "166179831" "subst" "2.03265E-5" "00006" "SCN2A_000341" "g.166179831G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.165323321G>A" "" "pathogenic (dominant)" "" "0000935989" "0" "70" "2" "166245279" "166245279" "subst" "0" "00006" "SCN2A_000342" "g.166245279A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.165388769A>G" "" "likely pathogenic (dominant)" "ACMG" "0000936027" "0" "70" "2" "166201160" "166201161" "delins" "0" "00006" "SCN2A_000343" "g.166201160_166201161delinsTT" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.165344650_165344651delinsTT" "" "likely pathogenic (dominant)" "" "0000936033" "0" "90" "2" "166172020" "166172020" "dup" "0" "00006" "SCN2A_000344" "g.166172020dup" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.165315510dup" "" "pathogenic" "ACMG" "0000936254" "0" "90" "2" "166237624" "166237624" "subst" "0" "00006" "SCN2A_000338" "g.166237624A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_021007:c.A4468G (M1490V)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936288" "0" "90" "2" "166245202" "166245202" "subst" "0" "00006" "SCN2A_000339" "g.166245202G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_021007:c.G4886A (R1629H)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936307" "0" "70" "2" "166166916" "166166916" "subst" "0" "00006" "SCN2A_000054" "g.166166916G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_021007:c.G781A (V261M)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000947381" "0" "50" "2" "165986509" "165986509" "subst" "0" "02325" "SCN2A_000345" "g.165986509C>A" "" "" "" "SCN3A(NM_006922.4):c.2863G>T (p.A955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947382" "0" "50" "2" "166003415" "166003415" "subst" "1.62682E-5" "02325" "SCN2A_000346" "g.166003415C>T" "" "" "" "SCN3A(NM_006922.4):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947383" "0" "30" "2" "166032837" "166032837" "subst" "0.000117915" "02325" "SCN2A_000347" "g.166032837G>A" "" "" "" "SCN3A(NM_006922.4):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947384" "0" "50" "2" "166179766" "166179766" "subst" "0" "02325" "SCN2A_000348" "g.166179766A>T" "" "" "" "SCN2A(NM_021007.3):c.1772A>T (p.N591I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947385" "0" "50" "2" "166231298" "166231298" "subst" "0" "02325" "SCN2A_000349" "g.166231298T>C" "" "" "" "SCN2A(NM_021007.3):c.4076T>C (p.F1359S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959729" "0" "70" "2" "166165903" "166165903" "subst" "0" "00006" "SCN2A_000350" "g.166165903T>G" "" "{PMID:Ostrander 2018:30109124}" "" "" "ACMG PS2, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.165309393T>G" "" "likely pathogenic (dominant)" "ACMG" "0000961387" "0" "50" "2" "165997294" "165997294" "subst" "0" "02327" "SCN2A_000351" "g.165997294C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961389" "0" "30" "2" "166032837" "166032837" "subst" "0.000117915" "02327" "SCN2A_000347" "g.166032837G>A" "" "" "" "SCN3A(NM_006922.4):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961390" "0" "50" "2" "166170246" "166170246" "subst" "0" "02329" "SCN2A_000352" "g.166170246A>G" "" "" "" "SCN2A(NM_021007.3):c.1151A>G (p.D384G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961391" "0" "90" "2" "166211059" "166211060" "del" "0" "02327" "SCN2A_000353" "g.166211059_166211060del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961392" "0" "90" "2" "166245633" "166245633" "subst" "0" "02327" "SCN2A_000250" "g.166245633G>A" "" "" "" "SCN2A(NM_021007.2):c.5317G>A (p.A1773T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974403" "0" "50" "2" "165986491" "165986491" "subst" "4.06062E-6" "01804" "SCN2A_000354" "g.165986491G>A" "" "" "" "SCN3A(NM_006922.4):c.2881C>T (p.(Leu961Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974404" "0" "30" "2" "165994386" "165994386" "subst" "1.628E-5" "01804" "SCN2A_000355" "g.165994386T>C" "" "" "" "SCN3A(NM_006922.4):c.2391+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974405" "0" "30" "2" "165997172" "165997172" "subst" "0.000178799" "01804" "SCN2A_000356" "g.165997172G>A" "" "" "" "SCN3A(NM_006922.4):c.2008C>T (p.(Leu670Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974406" "0" "30" "2" "166142450" "166142450" "subst" "0" "01804" "SCN2A_000357" "g.166142450G>A" "" "" "" "SCN2A(NM_001040142.2):c.-51-9833G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974407" "0" "90" "2" "166165924" "166165924" "subst" "0" "02327" "SCN2A_000358" "g.166165924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974408" "0" "30" "2" "166170504" "166170504" "subst" "0.00165403" "01804" "SCN2A_000067" "g.166170504G>A" "" "" "" "SCN2A(NM_001040142.2):c.1269G>A (p.(Val423=)), SCN2A(NM_021007.3):c.1269G>A (p.V423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974409" "0" "30" "2" "166179970" "166179970" "subst" "0.000156372" "01804" "SCN2A_000359" "g.166179970G>A" "" "" "" "SCN2A(NM_001040142.2):c.1976G>A (p.(Gly659Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974410" "0" "30" "2" "166183689" "166183689" "subst" "0" "01804" "SCN2A_000360" "g.166183689C>A" "" "" "" "SCN2A(NM_001040142.2):c.2149+195C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974411" "0" "30" "2" "166198806" "166198806" "subst" "4.06395E-5" "01804" "SCN2A_000361" "g.166198806G>A" "" "" "" "SCN2A(NM_001040142.2):c.2389G>A (p.(Val797Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984924" "0" "90" "2" "166170411" "166170411" "subst" "0" "03544" "SCN2A_000362" "g.166170411G>A" "" "" "" "" "de novo in patient, rare variant, not in gnomAD database (v4.1.0)" "De novo" "-" "" "0" "" "" "g.165313901G>A" "{CV:3895530}" "pathogenic (dominant)" "ACMG" "0000991739" "0" "30" "2" "165986510" "165986510" "subst" "2.84243E-5" "02327" "SCN2A_000363" "g.165986510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991740" "0" "50" "2" "165986592" "165986592" "subst" "1.2185E-5" "02325" "SCN2A_000364" "g.165986592T>C" "" "" "" "SCN3A(NM_006922.4):c.2780A>G (p.N927S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991741" "0" "50" "2" "165994511" "165994511" "subst" "0" "01804" "SCN2A_000365" "g.165994511C>A" "" "" "" "SCN3A(NM_006922.3):c.2269G>T (p.(Val757Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991742" "0" "50" "2" "165997210" "165997210" "subst" "0" "01804" "SCN2A_000366" "g.165997210A>G" "" "" "" "SCN3A(NM_006922.3):c.1970T>C (p.(Val657Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991743" "0" "50" "2" "165997318" "165997318" "subst" "0" "01804" "SCN2A_000367" "g.165997318C>G" "" "" "" "SCN3A(NM_006922.3):c.1862G>C (p.(Arg621Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991744" "0" "50" "2" "166003527" "166003527" "subst" "0" "01804" "SCN2A_000368" "g.166003527C>T" "" "" "" "SCN3A(NM_006922.3):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991745" "0" "50" "2" "166011000" "166011000" "subst" "0" "01804" "SCN2A_000369" "g.166011000T>C" "" "" "" "SCN3A(NM_006922.3):c.1342A>G (p.(Met448Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991746" "0" "50" "2" "166011014" "166011014" "subst" "0" "01804" "SCN2A_000370" "g.166011014G>A" "" "" "" "SCN3A(NM_006922.3):c.1328C>T (p.(Ala443Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991747" "0" "50" "2" "166020125" "166020125" "subst" "2.43893E-5" "01804" "SCN2A_000371" "g.166020125C>A" "" "" "" "SCN3A(NM_006922.3):c.694+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991748" "0" "50" "2" "166020945" "166020945" "subst" "8.13015E-6" "01804" "SCN2A_000372" "g.166020945G>A" "" "" "" "SCN3A(NM_006922.3):c.559C>T (p.(Arg187Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991749" "0" "50" "2" "166025323" "166025323" "subst" "0" "01804" "SCN2A_000332" "g.166025323C>T" "" "" "" "SCN3A(NM_006922.3):c.396G>A (p.(Met132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991750" "0" "30" "2" "166027028" "166027028" "subst" "2.856E-5" "01804" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991751" "0" "70" "2" "166170189" "166170189" "subst" "0" "01804" "SCN2A_000064" "g.166170189C>T" "" "" "" "SCN2A(NM_001040142.1):c.1094C>T (p.(Thr365Met)), SCN2A(NM_021007.3):c.1094C>T (p.T365M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991752" "0" "90" "2" "166170242" "166170242" "subst" "0" "02329" "SCN2A_000373" "g.166170242C>G" "" "" "" "SCN2A(NM_001040143.2):c.1147C>G (p.Q383E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991753" "0" "50" "2" "166171993" "166171998" "dup" "0" "02325" "SCN2A_000374" "g.166171993_166171998dup" "" "" "" "SCN2A(NM_021007.3):c.1396_1401dupGCCGCA (p.A466_A467dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991754" "0" "50" "2" "166179718" "166179718" "subst" "0" "01804" "SCN2A_000375" "g.166179718C>T" "" "" "" "SCN2A(NM_001040142.1):c.1724C>T (p.(Ala575Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991755" "0" "50" "2" "166183391" "166183391" "subst" "1.21897E-5" "01804" "SCN2A_000322" "g.166183391G>T" "" "" "" "SCN2A(NM_001040142.1):c.2046G>T (p.(Lys682Asn)), SCN2A(NM_021007.3):c.2046G>T (p.K682N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991756" "0" "70" "2" "166198965" "166198965" "subst" "0" "01804" "SCN2A_000209" "g.166198965C>T" "" "" "" "SCN2A(NM_001040142.1):c.2548C>T (p.(Arg850*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991757" "0" "30" "2" "166221738" "166221738" "subst" "3.65509E-5" "01804" "SCN2A_000376" "g.166221738A>T" "" "" "" "SCN2A(NM_001040142.1):c.3485A>T (p.(Glu1162Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991758" "0" "50" "2" "166221759" "166221759" "subst" "0" "01804" "SCN2A_000377" "g.166221759C>G" "" "" "" "SCN2A(NM_001040142.1):c.3506C>G (p.(Ala1169Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991759" "0" "30" "2" "166223796" "166223796" "subst" "4.0618E-6" "01804" "SCN2A_000313" "g.166223796T>C" "" "" "" "SCN2A(NM_001040142.1):c.3590T>C (p.(Leu1197Ser)), SCN2A(NM_021007.2):c.3590T>C (p.L1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991760" "0" "90" "2" "166226714" "166226714" "subst" "4.06464E-6" "01804" "SCN2A_000176" "g.166226714A>G" "" "" "" "SCN2A(NM_001040142.1):c.3754A>G (p.(Ile1252Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000991761" "0" "70" "2" "166245183" "166245183" "subst" "0" "02327" "SCN2A_000378" "g.166245183A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001011887" "0" "90" "2" "166166920" "166166920" "subst" "0" "00006" "SCN2A_000379" "g.166166920T>C" "" "{PMID:Salinas 2020:33084218}" "" "NM_001040143:c.785T>C" "" "Unknown" "" "" "0" "" "" "g.165310410T>C" "SUB7797661" "pathogenic" "" "0001011966" "0" "90" "2" "166245305" "166245305" "del" "0" "00006" "SCN2A_000380" "g.166245305del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001040143.1:c.4989delC" "" "Unknown" "" "" "0" "" "" "g.165388795del" "SUB7803092" "pathogenic" "" "0001011967" "0" "90" "2" "166166923" "166166923" "subst" "0" "00006" "SCN2A_000055" "g.166166923C>T" "" "{PMID:Salinas 2020:33084218}" "" "NM_001040143.2:c.788C>T" "" "Unknown" "" "" "0" "" "" "g.165310413C>T" "VCV000029888.6" "pathogenic" "" "0001013397" "0" "30" "2" "165997177" "165997177" "subst" "0.000284451" "02327" "SCN2A_000381" "g.165997177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013398" "0" "30" "2" "166020181" "166020181" "subst" "6.09271E-5" "02326" "SCN2A_000382" "g.166020181G>A" "" "" "" "SCN3A(NM_006922.4):c.641C>T (p.A214V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017749" "0" "70" "2" "166170443" "166170443" "dup" "0" "03544" "SCN2A_000383" "g.166170443dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.165313933dup" "{CV:3381753}" "likely pathogenic" "ACMG" "0001017818" "0" "90" "2" "166187875" "166187876" "ins" "0" "03544" "SCN2A_000384" "g.166187875_166187876insAT" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.165331365_165331366insAT" "{CV:3383972}" "pathogenic" "ACMG" "0001024246" "0" "50" "2" "166027028" "166027028" "subst" "2.856E-5" "02325" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024247" "0" "30" "2" "166032773" "166032773" "subst" "2.0492E-5" "02327" "SCN2A_000385" "g.166032773A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024248" "0" "30" "2" "166183395" "166183395" "subst" "0.000178804" "02325" "SCN2A_000206" "g.166183395C>T" "" "" "" "SCN2A(NM_021007.3):c.2050C>T (p.R684W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024249" "0" "90" "2" "166187982" "166187982" "del" "0" "02325" "SCN2A_000386" "g.166187982del" "" "" "" "SCN2A(NM_021007.3):c.2292delC (p.I765Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032460" "0" "50" "2" "165986711" "165986711" "subst" "0" "01804" "SCN2A_000387" "g.165986711C>G" "" "" "" "SCN3A(NM_006922.4):c.2661G>C (p.(Leu887Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032461" "0" "30" "2" "166019105" "166019105" "subst" "2.84289E-5" "01804" "SCN2A_000388" "g.166019105T>A" "" "" "" "SCN3A(NM_006922.4):c.928A>T (p.(Met310Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032462" "0" "50" "2" "166027028" "166027028" "subst" "2.856E-5" "02327" "SCN3A_000021" "g.166027028T>C" "" "" "" "SCN3A(NM_006922.3):c.295A>G (p.(Ile99Val)), SCN3A(NM_006922.4):c.295A>G (p.I99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032463" "0" "50" "2" "166032862" "166032862" "subst" "4.0657E-6" "01804" "SCN2A_000389" "g.166032862G>A" "" "" "" "SCN3A(NM_006922.4):c.43C>T (p.(Arg15Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032464" "0" "50" "2" "166152341" "166152341" "subst" "0" "01804" "SCN2A_000390" "g.166152341A>G" "" "" "" "SCN2A(NM_001040142.2):c.8A>G (p.(Gln3Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032465" "0" "50" "2" "166165225" "166165225" "subst" "4.06613E-6" "01804" "SCN2A_000391" "g.166165225G>T" "" "" "" "SCN2A(NM_001040142.2):c.526G>T (p.(Ala176Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032466" "0" "50" "2" "166223736" "166223736" "subst" "8.12949E-6" "01804" "SCN2A_000392" "g.166223736G>A" "" "" "" "SCN2A(NM_001040142.2):c.3530G>A (p.(Arg1177Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032467" "0" "30" "2" "166242957" "166242957" "subst" "0" "01804" "SCN2A_000393" "g.166242957G>A" "" "" "" "SCN2A(NM_001040142.2):c.4552-299G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032468" "0" "50" "2" "166245494" "166245494" "subst" "0" "01804" "SCN2A_000394" "g.166245494T>G" "" "" "" "SCN2A(NM_001040142.2):c.5178T>G (p.(Ser1726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032469" "0" "90" "2" "166245942" "166245942" "subst" "0" "01804" "SCN2A_000395" "g.166245942C>T" "" "" "" "SCN2A(NM_001040142.2):c.5626C>T (p.(Arg1876*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045276" "0" "70" "2" "166170181" "166170181" "subst" "0" "01164" "SCN2A_000396" "g.166170181T>G" "" "" "" "" "ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 2.0.0: PVS1-very strong,PS2-supporting,PS4-supporting,PM2-supporting; confirmed de novo" "De novo" "-" "" "" "" "" "g.165313671T>G" "VCV002943147.2" "pathogenic (dominant)" "ACMG" "0001049062" "0" "90" "2" "166245193" "166245193" "subst" "0" "00006" "SCN2A_000398" "g.166245193G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.4877G>A" "" "De novo" "" "" "0" "" "" "g.165388683G>A" "" "pathogenic (dominant)" "" "0001049067" "0" "90" "2" "166201137" "166201137" "subst" "0" "00006" "SCN2A_000397" "g.166201137G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.2635G>A" "" "De novo" "" "" "0" "" "" "g.165344627G>A" "" "pathogenic (dominant)" "" "0001050851" "0" "50" "2" "165997448" "165997448" "subst" "1.22103E-5" "01804" "SCN2A_000399" "g.165997448A>G" "" "" "" "SCN3A(NM_006922.4):c.1732T>C (p.(Phe578Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050852" "0" "30" "2" "165997493" "165997493" "subst" "0.000200248" "01804" "SCN2A_000400" "g.165997493G>A" "" "" "" "SCN3A(NM_006922.4):c.1687C>T (p.(Arg563Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050853" "0" "50" "2" "166003328" "166003328" "subst" "0" "01804" "SCN2A_000401" "g.166003328C>G" "" "" "" "SCN3A(NM_006922.4):c.1592G>C (p.(Ser531Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050854" "0" "30" "2" "166019183" "166019183" "subst" "5.27996E-5" "01804" "SCN2A_000402" "g.166019183C>T" "" "" "" "SCN3A(NM_006922.4):c.850G>A (p.(Asp284Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050855" "0" "50" "2" "166152494" "166152494" "subst" "4.06336E-6" "01804" "SCN2A_000403" "g.166152494G>A" "" "" "" "SCN2A(NM_001040142.2):c.161G>A (p.(Ser54Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050856" "0" "50" "2" "166172195" "166172195" "subst" "0" "01804" "SCN2A_000404" "g.166172195G>A" "" "" "" "SCN2A(NM_001040142.2):c.1598G>A (p.(Arg533Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059115" "0" "90" "2" "166172167" "166172167" "subst" "0" "00006" "SCN2A_000408" "g.166172167C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165315657C>T" "" "pathogenic" "" "0001059116" "0" "90" "2" "166187996" "166187996" "subst" "0" "00006" "SCN2A_000088" "g.166187996T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165331486T>C" "" "pathogenic" "" "0001059117" "0" "90" "2" "166166843" "166166843" "del" "0" "00006" "SCN2A_000405" "g.166166843del" "" "{PMID:Retterer 2016:26633542}" "" "708delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165310333del" "" "pathogenic" "" "0001059118" "0" "90" "2" "166245211" "166245211" "subst" "0" "00006" "SCN2A_000260" "g.166245211G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165388701G>A" "" "pathogenic" "" "0001059119" "0" "90" "2" "166234162" "166234162" "subst" "0" "00006" "SCN2A_000409" "g.166234162T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165377652T>C" "" "pathogenic" "" "0001059120" "0" "90" "2" "166166925" "166166925" "subst" "0" "00006" "SCN2A_000406" "g.166166925C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165310415C>G" "" "pathogenic" "" "0001059121" "0" "90" "2" "166166986" "166166986" "subst" "0" "00006" "SCN2A_000407" "g.166166986A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165310476A>G" "" "pathogenic" "" "0001059122" "0" "90" "2" "166198975" "166198975" "subst" "0" "00006" "SCN2A_000093" "g.166198975G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.165342465G>A" "" "pathogenic" "" "0001062262" "11" "70" "2" "166245988" "166245988" "subst" "8.14584E-6" "00006" "SCN2A_000410" "g.166245988T>A" "" "{PMID:Anderson 2026:41468891}" "" "" "" "Germline" "" "" "0" "" "" "g.165389478T>A" "" "VUS" "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 SCN2A ## Count = 448 "{{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}}" "0000036001" "00018517" "75" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Ser497Asn)" "11" "0000079359" "00018517" "00" "2932" "0" "2932" "0" "c.2932T>C" "r.(?)" "p.(Phe978Leu)" "" "0000079389" "00018517" "00" "-51" "-225" "2389" "-114" "c.-51-225_2389-114dup" "r.?" "p.?" "" "0000079398" "00018517" "00" "-572276" "0" "868238" "0" "c.-572276_*862220del" "r.0?" "p.0?" "" "0000079487" "00018517" "00" "4780" "0" "4780" "0" "c.4780T>A" "r.(?)" "p.(Trp1594Arg)" "" "0000079521" "00018517" "00" "1434" "0" "1437" "0" "c.1434_1437delinsT" "r.(?)" "p.(Gly479del)" "" "0000079522" "00018517" "00" "1693" "0" "1696" "0" "c.1693_1696delinsT" "r.(?)" "p.(Ser565_Leu566delinsPhe)" "" "0000079528" "00018517" "00" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Ile172Ser)" "" "0000079610" "00018517" "00" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "" "0000079621" "00018517" "00" "605" "1" "605" "1" "c.605+1G>A" "r.spl?" "p.?" "" "0000079626" "00018517" "00" "5638" "0" "5638" "0" "c.5638G>A" "r.(?)" "p.(Glu1880Lys)" "" "0000130284" "00018517" "70" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Trp1276*)" "" "0000165278" "00018517" "70" "3952" "0" "3952" "0" "c.3952T>C" "r.(?)" "p.(Ser1318Pro)" "" "0000188187" "00018517" "00" "1954" "0" "1954" "0" "c.1954G>T" "r.(?)" "p.(Gly652Cys)" "" "0000188201" "00018517" "00" "4207" "0" "4208" "0" "c.4207_4208del" "r.(?)" "p.(Val1403Lysfs*3)" "" "0000188280" "00018517" "00" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Ala34Thr)" "" "0000188415" "00018517" "00" "2182" "0" "2182" "0" "c.2182T>C" "r.(?)" "p.(Cys728Arg)" "" "0000188464" "00018517" "00" "4209" "0" "4210" "0" "c.4209_4210insGCC" "r.(?)" "p.(Val1403_Asn1404insAla)" "" "0000188514" "00018517" "00" "3457" "0" "3457" "0" "c.3457G>A" "r.(?)" "p.(Glu1153Lys)" "" "0000248083" "00018517" "30" "2034" "0" "2034" "0" "c.2034A>G" "r.(?)" "p.(Thr678=)" "" "0000250774" "00018517" "30" "2034" "0" "2034" "0" "c.2034A>G" "r.(?)" "p.(Thr678=)" "" "0000250999" "00018517" "10" "1536" "0" "1536" "0" "c.1536A>G" "r.(?)" "p.(Glu512=)" "" "0000251000" "00018517" "10" "5973" "0" "5973" "0" "c.5973A>G" "r.(?)" "p.(Ser1991=)" "" "0000251110" "00018517" "10" "2723" "0" "2723" "0" "c.2723A>G" "r.(?)" "p.(Lys908Arg)" "" "0000251240" "00018517" "10" "-51" "-61" "-51" "-61" "c.-51-61A>G" "r.(=)" "p.(=)" "" "0000251241" "00018517" "10" "268" "-28" "268" "-28" "c.268-28A>G" "r.(=)" "p.(=)" "" "0000251242" "00018517" "10" "387" "-135" "387" "-135" "c.387-135del" "r.(=)" "p.(=)" "" "0000251243" "00018517" "10" "971" "-32" "971" "-32" "c.971-32A>G" "r.(=)" "p.(=)" "" "0000251244" "00018517" "10" "1035" "-163" "1035" "-163" "c.1035-163A>G" "r.(=)" "p.(=)" "" "0000251245" "00018517" "10" "2017" "-89" "2017" "-89" "c.2017-89A>G" "r.(=)" "p.(=)" "" "0000251246" "00018517" "10" "2017" "-61" "2017" "-61" "c.2017-61A>G" "r.(=)" "p.(=)" "" "0000251247" "00018517" "10" "2562" "107" "2562" "107" "c.2562+107A>G" "r.(=)" "p.(=)" "" "0000251248" "00018517" "10" "3400" "-72" "3400" "-72" "c.3400-72A>G" "r.(=)" "p.(=)" "" "0000251249" "00018517" "10" "3676" "-55" "3676" "-55" "c.3676-55A>C" "r.(=)" "p.(=)" "" "0000251250" "00018517" "10" "3676" "-55" "3676" "-55" "c.3676-55A>G" "r.(=)" "p.(=)" "" "0000251251" "00018517" "10" "3849" "85" "3849" "85" "c.3849+85del" "r.(=)" "p.(=)" "" "0000251252" "00018517" "10" "4551" "1350" "4551" "1350" "c.4551+1350A>C" "r.(=)" "p.(=)" "" "0000252033" "00018517" "30" "268" "-44" "268" "-44" "c.268-44A>G" "r.(=)" "p.(=)" "" "0000252034" "00018517" "30" "1176" "41" "1176" "41" "c.1176+41A>C" "r.(=)" "p.(=)" "" "0000252035" "00018517" "30" "2017" "-38" "2017" "-38" "c.2017-38A>G" "r.(=)" "p.(=)" "" "0000252036" "00018517" "30" "2017" "-35" "2017" "-35" "c.2017-35A>C" "r.(=)" "p.(=)" "" "0000252037" "00018517" "30" "2149" "8" "2149" "8" "c.2149+8A>G" "r.(=)" "p.(=)" "" "0000252038" "00018517" "30" "2150" "-58" "2150" "-58" "c.2150-58A>T" "r.(=)" "p.(=)" "" "0000252039" "00018517" "30" "2920" "-36" "2920" "-36" "c.2920-36A>G" "r.(=)" "p.(=)" "" "0000252040" "00018517" "30" "3520" "80" "3520" "80" "c.3520+80A>C" "r.(=)" "p.(=)" "" "0000252041" "00018517" "30" "4552" "-48" "4552" "-48" "c.4552-48A>T" "r.(=)" "p.(=)" "" "0000252042" "00018517" "30" "4552" "-14" "4552" "-14" "c.4552-14A>G" "r.(=)" "p.(=)" "" "0000252043" "00018517" "30" "4822" "48" "4822" "48" "c.4822+48A>G" "r.(=)" "p.(=)" "" "0000252531" "00018517" "90" "2722" "0" "2722" "0" "c.2722A>G" "r.(?)" "p.(Lys908Glu)" "" "0000252645" "00018517" "50" "3726" "0" "3726" "0" "c.3726A>G" "r.(?)" "p.(Leu1242=)" "" "0000252697" "00018517" "50" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ile532Val)" "" "0000252777" "00018517" "50" "3709" "0" "3709" "0" "c.3709A>G" "r.(?)" "p.(Thr1237Ala)" "" "0000252800" "00018517" "50" "970" "6" "970" "6" "c.970+6A>T" "r.(=)" "p.(=)" "" "0000252801" "00018517" "50" "2017" "-65" "2017" "-65" "c.2017-65A>G" "r.(=)" "p.(=)" "" "0000252802" "00018517" "50" "4823" "-59" "4823" "-59" "c.4823-59A>G" "r.(=)" "p.(=)" "" "0000253993" "00018517" "30" "2034" "0" "2034" "0" "c.2034A>G" "r.(?)" "p.(Thr678=)" "" "0000254950" "00018517" "30" "1416" "0" "1416" "0" "c.1416A>G" "r.(?)" "p.(Arg472=)" "" "0000255544" "00018517" "90" "4642" "0" "4642" "0" "c.4642A>G" "r.(?)" "p.(Met1548Val)" "" "0000256275" "00018517" "50" "-162927" "0" "-162927" "0" "c.-162927A>G" "r.(?)" "p.(=)" "" "0000297933" "00018517" "10" "1035" "-3" "1035" "-3" "c.1035-3T>C" "r.spl?" "p.?" "" "0000297934" "00018517" "50" "1399" "0" "1399" "0" "c.1399G>T" "r.(?)" "p.(Ala467Ser)" "" "0000297935" "00018517" "10" "1672" "-16" "1672" "-16" "c.1672-16C>T" "r.(=)" "p.(=)" "" "0000297936" "00018517" "30" "1785" "0" "1785" "0" "c.1785T>C" "r.(?)" "p.(Asp595=)" "" "0000297937" "00018517" "90" "3675" "1" "3675" "1" "c.3675+1G>C" "r.spl?" "p.?" "" "0000297938" "00018517" "30" "3954" "0" "3954" "0" "c.3954C>T" "r.(?)" "p.(Ser1318=)" "" "0000297939" "00018517" "70" "3973" "0" "3973" "0" "c.3973G>A" "r.(?)" "p.(Val1325Ile)" "" "0000297940" "00018517" "50" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Leu1630Pro)" "" "0000297941" "00018517" "10" "5326" "0" "5326" "0" "c.5326C>T" "r.(?)" "p.(Leu1776=)" "" "0000297942" "00018517" "10" "5919" "0" "5919" "0" "c.5919C>T" "r.(?)" "p.(Pro1973=)" "" "0000299353" "00018517" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000299354" "00018517" "90" "4308" "1" "4308" "1" "c.4308+1del" "r.spl?" "p.?" "" "0000301806" "00018517" "30" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Ala34Thr)" "" "0000301807" "00018517" "10" "1035" "-19" "1035" "-19" "c.1035-19T>G" "r.(=)" "p.(=)" "" "0000301808" "00018517" "50" "1035" "-26" "1035" "-26" "c.1035-26C>G" "r.(=)" "p.(=)" "" "0000301809" "00018517" "10" "1035" "-3" "1035" "-3" "c.1035-3T>C" "r.spl?" "p.?" "" "0000301810" "00018517" "30" "1035" "-55" "1035" "-55" "c.1035-55C>A" "r.(=)" "p.(=)" "" "0000301811" "00018517" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Val423=)" "" "0000301812" "00018517" "10" "1672" "-16" "1672" "-16" "c.1672-16C>T" "r.(=)" "p.(=)" "" "0000301813" "00018517" "10" "1785" "0" "1785" "0" "c.1785T>C" "r.(?)" "p.(Asp595=)" "" "0000301814" "00018517" "30" "2016" "66" "2016" "66" "c.2016+66del" "r.(=)" "p.(=)" "" "0000301815" "00018517" "30" "2016" "6" "2016" "6" "c.2016+6G>T" "r.(=)" "p.(=)" "" "0000301816" "00018517" "90" "2099" "0" "2099" "0" "c.2099C>G" "r.(?)" "p.(Ser700Ter)" "" "0000301817" "00018517" "10" "2149" "182" "2149" "183" "c.2149+182_2149+183del" "r.(=)" "p.(=)" "" "0000301818" "00018517" "30" "2150" "-67" "2150" "-67" "c.2150-67T>C" "r.(=)" "p.(=)" "" "0000301819" "00018517" "10" "2253" "0" "2253" "0" "c.2253T>C" "r.(?)" "p.(Leu751=)" "" "0000301820" "00018517" "70" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Thr773Ile)" "" "0000301821" "00018517" "30" "2388" "90" "2388" "90" "c.2388+90C>T" "r.(=)" "p.(=)" "" "0000301822" "00018517" "10" "2563" "-5" "2563" "-5" "c.2563-5T>C" "r.spl?" "p.?" "" "0000301823" "00018517" "10" "267" "51" "267" "51" "c.267+51G>A" "r.(=)" "p.(=)" "" "0000301824" "00018517" "30" "2920" "-93" "2920" "-93" "c.2920-93T>A" "r.(=)" "p.(=)" "" "0000301825" "00018517" "90" "3007" "0" "3007" "0" "c.3007C>A" "r.(?)" "p.(Leu1003Ile)" "" "0000301826" "00018517" "30" "3372" "0" "3372" "0" "c.3372C>T" "r.(?)" "p.(Ser1124=)" "" "0000301827" "00018517" "10" "3399" "104" "3399" "104" "c.3399+104G>A" "r.(=)" "p.(=)" "" "0000301828" "00018517" "30" "3399" "78" "3399" "78" "c.3399+78C>T" "r.(=)" "p.(=)" "" "0000301829" "00018517" "30" "3400" "-74" "3400" "-74" "c.3400-74del" "r.(=)" "p.(=)" "" "0000301830" "00018517" "30" "3400" "-75" "3400" "-74" "c.3400-75_3400-74del" "r.(=)" "p.(=)" "" "0000301831" "00018517" "30" "3400" "-74" "3400" "-74" "c.3400-74dup" "r.(=)" "p.(=)" "" "0000301833" "00018517" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Pro1151=)" "" "0000301834" "00018517" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Glu1173Lys)" "" "0000301835" "00018517" "10" "3520" "133" "3520" "136" "c.3520+133_3520+136del" "r.(=)" "p.(=)" "" "0000301837" "00018517" "30" "3520" "184" "3520" "185" "c.3520+184_3520+185dup" "r.(=)" "p.(=)" "" "0000301838" "00018517" "30" "3675" "124" "3675" "124" "c.3675+124C>T" "r.(=)" "p.(=)" "" "0000301839" "00018517" "50" "3676" "-14" "3676" "-14" "c.3676-14T>A" "r.(=)" "p.(=)" "" "0000301840" "00018517" "30" "3676" "-82" "3676" "-82" "c.3676-82T>C" "r.(=)" "p.(=)" "" "0000301841" "00018517" "10" "386" "17" "386" "17" "c.386+17C>T" "r.(=)" "p.(=)" "" "0000301842" "00018517" "50" "386" "46" "386" "46" "c.386+46C>G" "r.(=)" "p.(=)" "" "0000301843" "00018517" "10" "387" "-10" "387" "-10" "c.387-10G>A" "r.(=)" "p.(=)" "" "0000301844" "00018517" "30" "387" "-39" "387" "-39" "c.387-39T>G" "r.(=)" "p.(=)" "" "0000301845" "00018517" "30" "387" "-99" "387" "-99" "c.387-99G>T" "r.(=)" "p.(=)" "" "0000301846" "00018517" "90" "3956" "0" "3956" "0" "c.3956G>A" "r.(?)" "p.(Arg1319Gln)" "" "0000301847" "00018517" "30" "3972" "55" "3972" "55" "c.3972+55C>T" "r.(=)" "p.(=)" "" "0000301848" "00018517" "30" "3973" "-92" "3973" "-92" "c.3973-92T>A" "r.(=)" "p.(=)" "" "0000301849" "00018517" "50" "4254" "14" "4254" "14" "c.4254+14T>C" "r.(=)" "p.(=)" "" "0000301850" "00018517" "30" "4255" "-92" "4255" "-92" "c.4255-92T>C" "r.(=)" "p.(=)" "" "0000301851" "00018517" "90" "4303" "0" "4303" "0" "c.4303C>T" "r.(?)" "p.(Arg1435Ter)" "" "0000301852" "00018517" "30" "4309" "-117" "4309" "-117" "c.4309-117G>A" "r.(=)" "p.(=)" "" "0000301853" "00018517" "10" "4551" "1238" "4551" "1238" "c.4551+1238T>C" "r.(=)" "p.(=)" "" "0000301854" "00018517" "30" "4551" "158" "4551" "158" "c.4551+158T>G" "r.(=)" "p.(=)" "" "0000301855" "00018517" "10" "4551" "61" "4551" "61" "c.4551+61G>A" "r.(=)" "p.(=)" "" "0000301856" "00018517" "30" "4552" "-132" "4552" "-132" "c.4552-132G>A" "r.(=)" "p.(=)" "" "0000301857" "00018517" "10" "4552" "-133" "4552" "-133" "c.4552-133del" "r.(=)" "p.(=)" "" "0000301858" "00018517" "10" "4552" "-40" "4552" "-40" "c.4552-40T>A" "r.(=)" "p.(=)" "" "0000301859" "00018517" "10" "4552" "-41" "4552" "-41" "c.4552-41T>A" "r.(=)" "p.(=)" "" "0000301860" "00018517" "10" "4552" "-98" "4552" "-98" "c.4552-98T>A" "r.(=)" "p.(=)" "" "0000301861" "00018517" "10" "4716" "0" "4716" "0" "c.4716T>A" "r.(?)" "p.(Val1572=)" "" "0000301862" "00018517" "50" "4823" "-24" "4823" "-24" "c.4823-24T>G" "r.(=)" "p.(=)" "" "0000301863" "00018517" "10" "4914" "0" "4914" "0" "c.4914T>A" "r.(?)" "p.(Arg1638=)" "" "0000301864" "00018517" "70" "5182" "0" "5182" "0" "c.5182C>T" "r.(?)" "p.(Pro1728Ser)" "" "0000301865" "00018517" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "" "0000301866" "00018517" "30" "5326" "0" "5326" "0" "c.5326C>T" "r.(?)" "p.(Leu1776=)" "" "0000301867" "00018517" "30" "5397" "0" "5397" "0" "c.5397T>C" "r.(?)" "p.(Tyr1799=)" "" "0000301868" "00018517" "50" "5471" "0" "5471" "0" "c.5471C>A" "r.(?)" "p.(Ala1824Asp)" "" "0000301869" "00018517" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Trp)" "" "0000301870" "00018517" "50" "5647" "0" "5647" "0" "c.5647T>A" "r.(?)" "p.(Phe1883Ile)" "" "0000301871" "00018517" "10" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Lys)" "" "0000301872" "00018517" "30" "5757" "0" "5757" "0" "c.5757C>T" "r.(?)" "p.(Tyr1919=)" "" "0000301873" "00018517" "10" "5910" "0" "5910" "0" "c.5910G>A" "r.(?)" "p.(Thr1970=)" "" "0000301874" "00018517" "30" "5919" "0" "5919" "0" "c.5919C>T" "r.(?)" "p.(Pro1973=)" "" "0000301875" "00018517" "90" "605" "1" "605" "1" "c.605+1G>A" "r.spl?" "p.?" "" "0000301876" "00018517" "30" "605" "57" "605" "57" "c.605+57T>A" "r.(=)" "p.(=)" "" "0000301877" "00018517" "70" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Val208Ala)" "" "0000301878" "00018517" "30" "697" "124" "697" "124" "c.697+124G>A" "r.(=)" "p.(=)" "" "0000301879" "00018517" "30" "697" "64" "697" "64" "c.697+64G>A" "r.(=)" "p.(=)" "" "0000301880" "00018517" "90" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000301881" "00018517" "90" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ala263Val)" "" "0000301882" "00018517" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Ter)" "" "0000307742" "00018517" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "" "0000307743" "00018517" "50" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(Leu541=)" "" "0000307744" "00018517" "90" "2537" "0" "2537" "0" "c.2537del" "r.(?)" "p.(Leu846CysfsTer22)" "" "0000307745" "00018517" "90" "2541" "0" "2545" "0" "c.2541_2545del" "r.(?)" "p.(Val848ProfsTer23)" "" "0000307746" "00018517" "30" "3594" "0" "3594" "0" "c.3594G>A" "r.(?)" "p.(Arg1198=)" "" "0000307747" "00018517" "30" "4134" "0" "4134" "0" "c.4134C>T" "r.(?)" "p.(Ser1378=)" "" "0000307748" "00018517" "30" "5910" "0" "5910" "0" "c.5910G>A" "r.(?)" "p.(Thr1970=)" "" "0000327414" "00018517" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000327416" "00018517" "50" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Gln39Ter)" "" "0000327417" "00018517" "50" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Met)" "" "0000327419" "00018517" "50" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853Gln)" "" "0000327421" "00018517" "30" "2723" "0" "2723" "0" "c.2723A>G" "r.(?)" "p.(Lys908Arg)" "" "0000327422" "00018517" "50" "4221" "0" "4221" "0" "c.4221C>A" "r.(?)" "p.(Asn1407Lys)" "" "0000327423" "00018517" "50" "4543" "0" "4543" "0" "c.4543C>T" "r.(?)" "p.(Arg1515Ter)" "" "0000341314" "00018517" "90" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ala263Val)" "" "0000341849" "00018517" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Trp)" "" "0000342034" "00018517" "90" "4904" "0" "4904" "0" "c.4904G>A" "r.(?)" "p.(Arg1635Gln)" "" "0000342545" "00018517" "10" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000343167" "00018517" "90" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Ter)" "" "0000343868" "00018517" "50" "3109" "0" "3109" "0" "c.3109G>A" "r.(?)" "p.(Asp1037Asn)" "" "0000344570" "00018517" "90" "4561" "0" "4561" "0" "c.4561C>T" "r.(?)" "p.(Gln1521Ter)" "" "0000345083" "00018517" "90" "3631" "0" "3631" "0" "c.3631G>A" "r.(?)" "p.(Glu1211Lys)" "" "0000346587" "00018517" "70" "4610" "0" "4610" "0" "c.4610T>G" "r.(?)" "p.(Ile1537Ser)" "" "0000346818" "00018517" "90" "-163949" "0" "-163949" "0" "c.-163949A>G" "r.(?)" "p.(=)" "" "0000346927" "00018517" "90" "4841" "0" "4841" "0" "c.4841T>G" "r.(?)" "p.(Leu1614Arg)" "" "0000347986" "00018517" "50" "606" "-138" "606" "-138" "c.606-138T>A" "r.(=)" "p.(=)" "" "0000348730" "00018517" "50" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Ser1506Leu)" "" "0000348914" "00018517" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ser294Phe)" "" "0000349691" "00018517" "90" "4193" "0" "4193" "0" "c.4193G>A" "r.(?)" "p.(Trp1398Ter)" "" "0000350091" "00018517" "90" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(Tyr428Cys)" "" "0000350276" "00018517" "50" "3973" "0" "3973" "0" "c.3973G>A" "r.(?)" "p.(Val1325Ile)" "" "0000350964" "00018517" "70" "971" "-3" "971" "-3" "c.971-3T>G" "r.spl?" "p.?" "" "0000356915" "00018517" "90" "1119" "0" "1119" "0" "c.1119del" "r.(?)" "p.(Leu375Cysfs*7)" "" "0000367859" "00018517" "90" "4303" "0" "4303" "0" "c.4303C>T" "r.(?)" "p.(Arg1435*)" "" "0000400780" "00018517" "70" "5408" "0" "5408" "0" "c.5408A>G" "r.(?)" "p.(Glu1803Gly)" "" "0000407948" "00018517" "00" "4193" "0" "4193" "0" "c.4193G>A" "r.(?)" "p.(Trp1398*)" "" "0000437552" "00018517" "70" "730" "0" "730" "0" "c.730T>C" "r.(?)" "p.(Ser244Pro)" "" "0000509806" "00018517" "30" "-154677" "0" "-154677" "0" "c.-154677C>T" "r.(?)" "p.(=)" "" "0000509807" "00018517" "50" "-129674" "0" "-129674" "0" "c.-129674A>G" "r.(?)" "p.(=)" "" "0000509809" "00018517" "50" "-117874" "0" "-117874" "0" "c.-117874G>A" "r.(?)" "p.(=)" "" "0000509810" "00018517" "50" "-117824" "0" "-117824" "0" "c.-117824G>T" "r.(?)" "p.(=)" "" "0000509811" "00018517" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000509812" "00018517" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000509813" "00018517" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000509814" "00018517" "30" "268" "-52" "268" "-52" "c.268-52T>C" "r.(=)" "p.(=)" "" "0000509815" "00018517" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Thr90=)" "" "0000509816" "00018517" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000509817" "00018517" "50" "387" "-32" "387" "-32" "c.387-32A>G" "r.(=)" "p.(=)" "" "0000509818" "00018517" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Thr138=)" "" "0000509819" "00018517" "70" "415" "0" "415" "0" "c.415A>G" "r.(?)" "p.(Ile139Val)" "" "0000509820" "00018517" "50" "488" "0" "488" "0" "c.488C>G" "r.(?)" "p.(Thr163Arg)" "" "0000509821" "00018517" "90" "623" "0" "623" "0" "c.623T>G" "r.(?)" "p.(Val208Gly)" "" "0000509822" "00018517" "10" "697" "103" "697" "103" "c.697+103T>C" "r.(=)" "p.(=)" "" "0000509823" "00018517" "90" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000509825" "00018517" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000509826" "00018517" "70" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395His)" "" "0000509827" "00018517" "50" "1399" "0" "1399" "0" "c.1399G>T" "r.(?)" "p.(Ala467Ser)" "" "0000509828" "00018517" "50" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Ser497Asn)" "" "0000509829" "00018517" "30" "1842" "0" "1842" "0" "c.1842G>T" "r.(?)" "p.(Pro614=)" "" "0000509830" "00018517" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Val653=)" "" "0000509831" "00018517" "30" "2017" "-35" "2017" "-35" "c.2017-35A>T" "r.(=)" "p.(=)" "" "0000509832" "00018517" "30" "2043" "0" "2043" "0" "c.2043A>G" "r.(?)" "p.(Arg681=)" "" "0000509833" "00018517" "30" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Trp)" "" "0000509834" "00018517" "30" "2149" "183" "2149" "183" "c.2149+183del" "r.(=)" "p.(=)" "" "0000509835" "00018517" "30" "2205" "0" "2205" "0" "c.2205G>A" "r.(?)" "p.(Met735Ile)" "" "0000509836" "00018517" "30" "2389" "-48" "2389" "-48" "c.2389-48G>A" "r.(=)" "p.(=)" "" "0000509837" "00018517" "70" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850Ter)" "" "0000509838" "00018517" "90" "2642" "0" "2642" "0" "c.2642T>C" "r.(?)" "p.(Leu881Pro)" "" "0000509839" "00018517" "70" "2642" "0" "2642" "0" "c.2642T>C" "r.(?)" "p.(Leu881Pro)" "" "0000509840" "00018517" "10" "2723" "0" "2723" "0" "c.2723A>G" "r.(?)" "p.(Lys908Arg)" "" "0000509842" "00018517" "30" "3123" "0" "3123" "0" "c.3123G>A" "r.(?)" "p.(Pro1041=)" "" "0000509843" "00018517" "30" "3210" "0" "3210" "0" "c.3210C>T" "r.(?)" "p.(Asp1070=)" "" "0000509844" "00018517" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Pro1151=)" "" "0000509845" "00018517" "10" "3520" "185" "3520" "185" "c.3520+185dup" "r.(=)" "p.(=)" "" "0000509847" "00018517" "30" "3579" "0" "3579" "0" "c.3579C>A" "r.(?)" "p.(Leu1193=)" "" "0000509849" "00018517" "10" "3675" "19" "3675" "19" "c.3675+19A>G" "r.(=)" "p.(=)" "" "0000509851" "00018517" "30" "3849" "18" "3849" "18" "c.3849+18T>C" "r.(=)" "p.(=)" "" "0000509852" "00018517" "90" "3956" "0" "3956" "0" "c.3956G>T" "r.(?)" "p.(Arg1319Leu)" "" "0000509854" "00018517" "50" "4038" "0" "4038" "0" "c.4038C>G" "r.(?)" "p.(Ile1346Met)" "" "0000509855" "00018517" "50" "4146" "0" "4146" "0" "c.4146C>G" "r.(?)" "p.(Asn1382Lys)" "" "0000509856" "00018517" "10" "4255" "-31" "4255" "-31" "c.4255-31A>G" "r.(=)" "p.(=)" "" "0000509857" "00018517" "30" "4255" "-26" "4255" "-26" "c.4255-26del" "r.(=)" "p.(=)" "" "0000509859" "00018517" "30" "4539" "0" "4539" "0" "c.4539A>T" "r.(?)" "p.(Ile1513=)" "" "0000509860" "00018517" "30" "4551" "1250" "4551" "1250" "c.4551+1250G>A" "r.(=)" "p.(=)" "" "0000509861" "00018517" "30" "4552" "-89" "4552" "-89" "c.4552-89C>T" "r.(=)" "p.(=)" "" "0000509863" "00018517" "30" "5468" "0" "5468" "0" "c.5468A>C" "r.(?)" "p.(Asp1823Ala)" "" "0000509864" "00018517" "90" "5644" "0" "5644" "0" "c.5644C>G" "r.(?)" "p.(Arg1882Gly)" "" "0000509865" "00018517" "10" "5919" "0" "5919" "0" "c.5919C>T" "r.(?)" "p.(Pro1973=)" "" "0000509866" "00018517" "30" "5955" "0" "5955" "0" "c.5955A>G" "r.(?)" "p.(Lys1985=)" "" "0000592562" "00018517" "70" "6002" "0" "6002" "0" "c.6002G>A" "r.(?)" "p.(Arg2001Lys)" "" "0000604474" "00018517" "50" "3064" "0" "3064" "0" "c.3064C>T" "r.(?)" "p.(Arg1022Cys)" "" "0000606197" "00018517" "10" "-166413" "0" "-166413" "0" "c.-166413C>T" "r.(?)" "p.(=)" "" "0000606198" "00018517" "30" "-166394" "0" "-166394" "0" "c.-166394T>G" "r.(?)" "p.(=)" "" "0000606199" "00018517" "30" "-166273" "0" "-166273" "0" "c.-166273A>G" "r.(?)" "p.(=)" "" "0000606200" "00018517" "50" "-153462" "0" "-153462" "0" "c.-153462C>A" "r.(?)" "p.(=)" "" "0000606201" "00018517" "50" "-153357" "0" "-153357" "0" "c.-153357G>A" "r.(?)" "p.(=)" "" "0000606202" "00018517" "30" "-153267" "0" "-153267" "0" "c.-153267C>A" "r.(?)" "p.(=)" "" "0000606203" "00018517" "30" "-147396" "0" "-147396" "0" "c.-147396G>A" "r.(?)" "p.(=)" "" "0000606204" "00018517" "30" "-147177" "0" "-147177" "0" "c.-147177G>A" "r.(?)" "p.(=)" "" "0000606205" "00018517" "50" "-129744" "0" "-129744" "0" "c.-129744G>A" "r.(?)" "p.(=)" "" "0000606206" "00018517" "30" "-125407" "0" "-125407" "0" "c.-125407T>A" "r.(?)" "p.(=)" "" "0000606207" "00018517" "10" "-117963" "0" "-117963" "0" "c.-117963A>G" "r.(?)" "p.(=)" "" "0000606208" "00018517" "50" "1210" "0" "1210" "0" "c.1210T>C" "r.(?)" "p.(Phe404Leu)" "" "0000606209" "00018517" "70" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583Ter)" "" "0000606210" "00018517" "90" "4876" "0" "4876" "0" "c.4876C>T" "r.(?)" "p.(Arg1626Ter)" "" "0000606211" "00018517" "90" "5317" "0" "5317" "0" "c.5317G>A" "r.(?)" "p.(Ala1773Thr)" "" "0000606212" "00018517" "50" "5705" "0" "5705" "0" "c.5705G>A" "r.(?)" "p.(Arg1902His)" "" "0000629297" "00018517" "90" "2948" "0" "2948" "0" "c.2948T>G" "r.(?)" "p.(Leu983Trp)" "" "0000650165" "00018517" "70" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853Gln)" "" "0000650166" "00018517" "70" "2695" "0" "2695" "0" "c.2695G>A" "r.(?)" "p.(Gly899Ser)" "" "0000650167" "00018517" "70" "3434" "0" "3434" "0" "c.3434C>T" "r.(?)" "p.(Thr1145Met)" "" "0000650168" "00018517" "90" "4036" "0" "4036" "0" "c.4036A>G" "r.(?)" "p.(Ile1346Val)" "" "0000653029" "00018517" "90" "3944" "0" "3944" "0" "c.3944G>A" "r.(?)" "p.(Arg1315Lys)" "" "0000654238" "00018517" "30" "-156233" "0" "-156233" "0" "c.-156233T>C" "r.(?)" "p.(=)" "" "0000654239" "00018517" "50" "-131884" "0" "-131884" "0" "c.-131884C>T" "r.(?)" "p.(=)" "" "0000654240" "00018517" "70" "971" "-2" "971" "-2" "c.971-2A>G" "r.spl?" "p.?" "" "0000654241" "00018517" "30" "1416" "0" "1416" "0" "c.1416A>G" "r.(?)" "p.(Arg472=)" "" "0000654242" "00018517" "50" "4895" "0" "4895" "0" "c.4895G>A" "r.(?)" "p.(Arg1632Lys)" "" "0000665615" "00018517" "50" "3064" "0" "3064" "0" "c.3064C>T" "r.(?)" "p.(Arg1022Cys)" "" "0000665793" "00018517" "50" "1376" "0" "1376" "0" "c.1376A>C" "r.(?)" "p.(Glu459Ala)" "" "0000666139" "00018517" "70" "4976" "0" "4976" "0" "c.4976C>T" "r.(?)" "p.(Ala1659Val)" "" "0000667574" "00018517" "90" "2645" "0" "2645" "0" "c.2645G>A" "r.(?)" "p.(Gly882Glu)" "" "0000667576" "00018517" "90" "5308" "0" "5308" "0" "c.5308A>T" "r.(?)" "p.(Met1770Leu)" "" "0000667672" "00018517" "90" "408" "0" "408" "0" "c.408G>T" "r.(?)" "p.(Met136Ile)" "" "0000667673" "00018517" "90" "2715" "0" "2715" "0" "c.2715G>C" "r.(?)" "p.(Lys905Asn)" "" "0000667674" "00018517" "70" "2783" "0" "2783" "0" "c.2783T>G" "r.(?)" "p.(Phe928Cys)" "" "0000667675" "00018517" "90" "3061" "0" "3061" "0" "c.3061del" "r.(?)" "p.(Ile1021Tyrfs*16)" "" "0000667676" "00018517" "90" "5645" "0" "5645" "0" "c.5645G>A" "r.(?)" "p.(Arg1882Gln)" "" "0000673981" "00018517" "70" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Ile769Val)" "" "0000676071" "00018517" "30" "-156060" "0" "-156060" "0" "c.-156060C>A" "r.(?)" "p.(=)" "" "0000676072" "00018517" "30" "432" "0" "432" "0" "c.432A>G" "r.(?)" "p.(Val144=)" "" "0000676073" "00018517" "70" "4609" "0" "4609" "0" "c.4609A>C" "r.(?)" "p.(Ile1537Leu)" "" "0000683339" "00018517" "70" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850*)" "" "0000683340" "00018517" "70" "1822" "0" "1822" "0" "c.1822A>T" "r.(?)" "p.(Arg608*)" "" "0000688365" "00018517" "30" "-163927" "0" "-163927" "0" "c.-163927G>A" "r.(?)" "p.(=)" "" "0000688366" "00018517" "30" "-147396" "0" "-147396" "0" "c.-147396G>A" "r.(?)" "p.(=)" "" "0000688367" "00018517" "30" "-138356" "0" "-138356" "0" "c.-138356G>T" "r.(?)" "p.(=)" "" "0000688368" "00018517" "50" "-130539" "0" "-130539" "0" "c.-130539G>A" "r.(?)" "p.(=)" "" "0000688369" "00018517" "90" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Ter)" "" "0000688370" "00018517" "90" "4777" "0" "4777" "0" "c.4777G>A" "r.(?)" "p.(Gly1593Arg)" "" "0000688371" "00018517" "70" "5636" "0" "5636" "0" "c.5636T>C" "r.(?)" "p.(Met1879Thr)" "" "0000710190" "00018517" "90" "4958" "0" "4958" "0" "c.4958del" "r.(?)" "p.(Leu1653*)" "" "0000717930" "00018517" "50" "-131455" "0" "-131455" "0" "c.-131455A>G" "r.(?)" "p.(=)" "" "0000717931" "00018517" "50" "934" "0" "934" "0" "c.934A>G" "r.(?)" "p.(Ser312Gly)" "" "0000717932" "00018517" "70" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922Cys)" "" "0000717933" "00018517" "70" "2825" "0" "2825" "0" "c.2825A>T" "r.(?)" "p.(Glu942Val)" "" "0000717934" "00018517" "90" "4301" "0" "4301" "0" "c.4301C>G" "r.(?)" "p.(Ser1434*)" "" "0000717935" "00018517" "90" "4436" "0" "4436" "0" "c.4436A>C" "r.(?)" "p.(Gln1479Pro)" "" "0000717936" "00018517" "30" "4565" "0" "4565" "0" "c.4565G>C" "r.(?)" "p.(Gly1522Ala)" "" "0000717937" "00018517" "90" "4732" "0" "4732" "0" "c.4732T>C" "r.(?)" "p.(Cys1578Arg)" "" "0000717938" "00018517" "70" "4766" "0" "4766" "0" "c.4766A>G" "r.(?)" "p.(Tyr1589Cys)" "" "0000717939" "00018517" "70" "5485" "0" "5485" "0" "c.5485C>T" "r.(?)" "p.(Leu1829Phe)" "" "0000784671" "00018517" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Glu1173Lys)" "" "0000787022" "00018517" "70" "4471" "0" "4471" "0" "c.4471del" "r.(?)" "p.(Thr1491GlnfsTer11)" "25" "0000787172" "00018517" "50" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853Gln)" "15" "0000787382" "00018517" "50" "1220" "0" "1220" "0" "c.1220T>C" "r.(?)" "p.(Leu407Pro)" "10" "0000787383" "00018517" "50" "4952" "0" "4952" "0" "c.4952T>A" "r.(?)" "p.(Phe1651Tyr)" "27" "0000787384" "00018517" "50" "5131" "0" "5131" "0" "c.5131A>G" "r.(?)" "p.(Thr1711Ala)" "27" "0000788915" "00018517" "70" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Lys509Arg)" "" "0000791066" "00018517" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Thr699Ile)" "" "0000795867" "00018517" "50" "16" "0" "16" "0" "c.16C>A" "r.(?)" "p.(Leu6Met)" "1" "0000799754" "00018517" "50" "-156259" "0" "-156259" "0" "c.-156259T>C" "r.(?)" "p.(=)" "" "0000799755" "00018517" "30" "-138416" "0" "-138416" "0" "c.-138416A>G" "r.(?)" "p.(=)" "" "0000799756" "00018517" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "0000799757" "00018517" "70" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Glu387Gly)" "" "0000799758" "00018517" "30" "2016" "6" "2016" "6" "c.2016+6G>T" "r.(=)" "p.(=)" "" "0000799759" "00018517" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Ala764=)" "" "0000799760" "00018517" "30" "3213" "0" "3213" "0" "c.3213A>C" "r.(?)" "p.(Gly1071=)" "" "0000849006" "00018517" "50" "-166258" "0" "-166258" "0" "c.-166258C>G" "r.(?)" "p.(=)" "" "0000849007" "00018517" "30" "-163965" "0" "-163965" "0" "c.-163965C>A" "r.(?)" "p.(=)" "" "0000849008" "00018517" "30" "-147154" "0" "-147154" "0" "c.-147154T>C" "r.(?)" "p.(=)" "" "0000849009" "00018517" "30" "-139691" "0" "-139691" "0" "c.-139691G>T" "r.(?)" "p.(=)" "" "0000849010" "00018517" "30" "-131513" "0" "-131513" "0" "c.-131513G>C" "r.(?)" "p.(=)" "" "0000849011" "00018517" "30" "-130547" "0" "-130547" "0" "c.-130547C>T" "r.(?)" "p.(=)" "" "0000849012" "00018517" "30" "-130508" "0" "-130508" "0" "c.-130508A>G" "r.(?)" "p.(=)" "" "0000849013" "00018517" "90" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000849014" "00018517" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Ser371Asn)" "" "0000849015" "00018517" "50" "3590" "0" "3590" "0" "c.3590T>C" "r.(?)" "p.(Leu1197Ser)" "" "0000849016" "00018517" "90" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Arg1235Ter)" "" "0000857808" "00018517" "30" "-147209" "0" "-147209" "0" "c.-147209A>G" "r.(?)" "p.(=)" "" "0000857809" "00018517" "30" "-147196" "0" "-147196" "0" "c.-147196A>G" "r.(?)" "p.(=)" "" "0000857810" "00018517" "50" "-118058" "0" "-118058" "0" "c.-118058A>C" "r.(?)" "p.(=)" "" "0000857811" "00018517" "70" "946" "0" "947" "0" "c.946_947del" "r.(?)" "p.(Trp316Glyfs*2)" "" "0000857812" "00018517" "50" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Pro360Leu)" "" "0000857813" "00018517" "50" "2320" "0" "2320" "0" "c.2320C>G" "r.(?)" "p.(Leu774Val)" "" "0000871146" "00018517" "70" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ala263Val)" "" "0000877212" "00018517" "70" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Gly822Ser)" "" "0000877970" "00018517" "70" "2567" "0" "2567" "0" "c.2567G>A" "r.spl?" "p.(Arg856Gln)" "16" "0000883835" "00018517" "30" "-147300" "0" "-147300" "0" "c.-147300T>C" "r.(?)" "p.(=)" "" "0000883836" "00018517" "50" "-138392" "0" "-138392" "0" "c.-138392C>T" "r.(?)" "p.(=)" "" "0000883838" "00018517" "50" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Lys38Thr)" "" "0000883839" "00018517" "90" "605" "1" "605" "1" "c.605+1G>A" "r.spl?" "p.?" "" "0000883840" "00018517" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000883841" "00018517" "90" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Gln431*)" "" "0000883842" "00018517" "50" "2046" "0" "2046" "0" "c.2046G>T" "r.(?)" "p.(Lys682Asn)" "" "0000883844" "00018517" "90" "4303" "0" "4303" "0" "c.4303C>T" "r.(?)" "p.(Arg1435Ter)" "" "0000902748" "00018517" "50" "5518" "0" "5518" "0" "c.5518A>C" "r.(?)" "p.(Ile1840Leu)" "" "0000908541" "00018517" "70" "2306" "0" "2306" "0" "c.2306T>C" "r.(?)" "p.(Ile769Thr)" "" "0000908975" "00018517" "70" "713" "0" "713" "0" "c.713dup" "r.(?)" "p.(Ala240Glyfs*11)" "" "0000909973" "00018517" "70" "1421" "0" "1421" "0" "c.1421T>A" "r.(?)" "p.(Phe474Tyr)" "" "0000911219" "00018517" "30" "-164085" "0" "-164085" "0" "c.-164085C>T" "r.(?)" "p.(=)" "" "0000911220" "00018517" "30" "-156221" "0" "-156221" "0" "c.-156221A>G" "r.(?)" "p.(=)" "" "0000923323" "00018517" "30" "-153509" "0" "-153509" "0" "c.-153509C>T" "r.(?)" "p.(=)" "" "0000923324" "00018517" "30" "-147154" "0" "-147154" "0" "c.-147154T>A" "r.(?)" "p.(=)" "" "0000923325" "00018517" "30" "-131847" "0" "-131847" "0" "c.-131847G>A" "r.(?)" "p.(=)" "" "0000923326" "00018517" "50" "-125374" "0" "-125374" "0" "c.-125374C>T" "r.(?)" "p.(=)" "" "0000923327" "00018517" "70" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Arg379His)" "" "0000923328" "00018517" "50" "3928" "0" "3928" "0" "c.3928G>A" "r.(?)" "p.(Ala1310Thr)" "" "0000923329" "00018517" "70" "4631" "0" "4631" "0" "c.4631A>G" "r.(?)" "p.(Asn1544Ser)" "" "0000928296" "00018517" "90" "5644" "0" "5644" "0" "c.5644C>G" "r.(?)" "p.(Arg1882Gly)" "" "0000933341" "00018517" "70" "5535" "0" "5535" "0" "c.5535del" "r.(?)" "p.(Met1846Trpfs*2)" "27" "0000935909" "00018517" "90" "3331" "0" "3332" "0" "c.3331_3332del" "r.(?)" "p.(Glu1111Ilefs*2)" "" "0000935956" "00018517" "90" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Val613Met)" "" "0000935989" "00018517" "70" "4963" "0" "4963" "0" "c.4963A>G" "r.(?)" "p.(Met1655Val)" "" "0000936027" "00018517" "70" "2658" "0" "2659" "0" "c.2658_2659delinsTT" "r.(?)" "p.(Leu886_Val887delinsPheLeu)" "" "0000936033" "00018517" "90" "1423" "0" "1423" "0" "c.1423dup" "r.(?)" "p.(Ser475Lysfs*18)" "" "0000936254" "00018517" "90" "4468" "0" "4468" "0" "c.4468A>G" "r.(?)" "p.(Met1490Val)" "" "0000936288" "00018517" "90" "4886" "0" "4886" "0" "c.4886G>A" "r.(?)" "p.(Arg1629His)" "" "0000936307" "00018517" "70" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000947381" "00018517" "50" "-164188" "0" "-164188" "0" "c.-164188C>A" "r.(?)" "p.(=)" "" "0000947382" "00018517" "50" "-147282" "0" "-147282" "0" "c.-147282C>T" "r.(?)" "p.(=)" "" "0000947383" "00018517" "30" "-117860" "0" "-117860" "0" "c.-117860G>A" "r.(?)" "p.(=)" "" "0000947384" "00018517" "50" "1772" "0" "1772" "0" "c.1772A>T" "r.(?)" "p.(Asn591Ile)" "" "0000947385" "00018517" "50" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Phe1359Ser)" "" "0000959729" "00018517" "70" "647" "0" "647" "0" "c.647T>G" "r.(?)" "p.(Leu216Trp)" "" "0000961387" "00018517" "50" "-153403" "0" "-153403" "0" "c.-153403C>T" "r.(?)" "p.(=)" "" "0000961389" "00018517" "30" "-117860" "0" "-117860" "0" "c.-117860G>A" "r.(?)" "p.(=)" "" "0000961390" "00018517" "50" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Asp384Gly)" "" "0000961391" "00018517" "90" "3277" "0" "3278" "0" "c.3277_3278del" "r.(?)" "p.(Met1093Valfs*7)" "" "0000961392" "00018517" "90" "5317" "0" "5317" "0" "c.5317G>A" "r.(?)" "p.(Ala1773Thr)" "" "0000974403" "00018517" "50" "-164206" "0" "-164206" "0" "c.-164206G>A" "r.(?)" "p.(=)" "" "0000974404" "00018517" "30" "-156311" "0" "-156311" "0" "c.-156311T>C" "r.(?)" "p.(=)" "" "0000974405" "00018517" "30" "-153525" "0" "-153525" "0" "c.-153525G>A" "r.(?)" "p.(=)" "" "0000974406" "00018517" "30" "-8247" "0" "-8247" "0" "c.-8247G>A" "r.(?)" "p.(=)" "" "0000974407" "00018517" "90" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000974408" "00018517" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Val423=)" "" "0000974409" "00018517" "30" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Gly659Asp)" "" "0000974410" "00018517" "30" "2149" "195" "2149" "195" "c.2149+195C>A" "r.(=)" "p.(=)" "" "0000974411" "00018517" "30" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Val797Ile)" "" "0000984924" "00018517" "90" "1177" "-1" "1177" "-1" "c.1177-1G>A" "r.spl" "p.?" "10i" "0000991739" "00018517" "30" "-164187" "0" "-164187" "0" "c.-164187G>A" "r.(?)" "p.(=)" "" "0000991740" "00018517" "50" "-164105" "0" "-164105" "0" "c.-164105T>C" "r.(?)" "p.(=)" "" "0000991741" "00018517" "50" "-156186" "0" "-156186" "0" "c.-156186C>A" "r.(?)" "p.(=)" "" "0000991742" "00018517" "50" "-153487" "0" "-153487" "0" "c.-153487A>G" "r.(?)" "p.(=)" "" "0000991743" "00018517" "50" "-153379" "0" "-153379" "0" "c.-153379C>G" "r.(?)" "p.(=)" "" "0000991744" "00018517" "50" "-147170" "0" "-147170" "0" "c.-147170C>T" "r.(?)" "p.(=)" "" "0000991745" "00018517" "50" "-139697" "0" "-139697" "0" "c.-139697T>C" "r.(?)" "p.(=)" "" "0000991746" "00018517" "50" "-139683" "0" "-139683" "0" "c.-139683G>A" "r.(?)" "p.(=)" "" "0000991747" "00018517" "50" "-130572" "0" "-130572" "0" "c.-130572C>A" "r.(?)" "p.(=)" "" "0000991748" "00018517" "50" "-129752" "0" "-129752" "0" "c.-129752G>A" "r.(?)" "p.(=)" "" "0000991749" "00018517" "50" "-125374" "0" "-125374" "0" "c.-125374C>T" "r.(?)" "p.(=)" "" "0000991750" "00018517" "30" "-123669" "0" "-123669" "0" "c.-123669T>C" "r.(?)" "p.(=)" "" "0000991751" "00018517" "70" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000991752" "00018517" "90" "1147" "0" "1147" "0" "c.1147C>G" "r.(?)" "p.(Gln383Glu)" "" "0000991753" "00018517" "50" "1396" "0" "1401" "0" "c.1396_1401dup" "r.(?)" "p.(Ala466_Ala467dup)" "" "0000991754" "00018517" "50" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Ala575Val)" "" "0000991755" "00018517" "50" "2046" "0" "2046" "0" "c.2046G>T" "r.(?)" "p.(Lys682Asn)" "" "0000991756" "00018517" "70" "2548" "0" "2548" "0" "c.2548C>T" "r.(?)" "p.(Arg850Ter)" "" "0000991757" "00018517" "30" "3485" "0" "3485" "0" "c.3485A>T" "r.(?)" "p.(Glu1162Val)" "" "0000991758" "00018517" "50" "3506" "0" "3506" "0" "c.3506C>G" "r.(?)" "p.(Ala1169Gly)" "" "0000991759" "00018517" "30" "3590" "0" "3590" "0" "c.3590T>C" "r.(?)" "p.(Leu1197Ser)" "" "0000991760" "00018517" "90" "3754" "0" "3754" "0" "c.3754A>G" "r.(?)" "p.(Ile1252Val)" "" "0000991761" "00018517" "70" "4867" "0" "4867" "0" "c.4867A>C" "r.(?)" "p.(Thr1623Pro)" "" "0001011887" "00018517" "90" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Phe262Ser)" "" "0001011966" "00018517" "90" "4989" "0" "4989" "0" "c.4989delC" "r.(?)" "p.(Ile1663MetfsTer42)" "" "0001011967" "00018517" "90" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Ala263Val)" "" "0001013397" "00018517" "30" "-153520" "0" "-153520" "0" "c.-153520C>T" "r.(?)" "p.(=)" "" "0001013398" "00018517" "30" "-130516" "0" "-130516" "0" "c.-130516G>A" "r.(?)" "p.(=)" "" "0001017749" "00018517" "70" "1208" "0" "1208" "0" "c.1208dup" "r.?" "p.(Phe404Ilefs*26)" "10" "0001017818" "00018517" "90" "2185" "0" "2186" "0" "c.2185_2186insAT" "r.(?)" "p.(Trp729Tyrfs*10)" "14" "0001024246" "00018517" "50" "-123669" "0" "-123669" "0" "c.-123669T>C" "r.(?)" "p.(=)" "" "0001024247" "00018517" "30" "-117924" "0" "-117924" "0" "c.-117924A>C" "r.(?)" "p.(=)" "" "0001024248" "00018517" "30" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Trp)" "" "0001024249" "00018517" "90" "2292" "0" "2292" "0" "c.2292del" "r.(?)" "p.(Ile765Serfs*7)" "" "0001032460" "00018517" "50" "-163986" "0" "-163986" "0" "c.-163986C>G" "r.(?)" "p.(=)" "" "0001032461" "00018517" "30" "-131592" "0" "-131592" "0" "c.-131592T>A" "r.(?)" "p.(=)" "" "0001032462" "00018517" "50" "-123669" "0" "-123669" "0" "c.-123669T>C" "r.(?)" "p.(=)" "" "0001032463" "00018517" "50" "-117835" "0" "-117835" "0" "c.-117835G>A" "r.(?)" "p.(=)" "" "0001032464" "00018517" "50" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Gln3Arg)" "" "0001032465" "00018517" "50" "526" "0" "526" "0" "c.526G>T" "r.(?)" "p.(Ala176Ser)" "" "0001032466" "00018517" "50" "3530" "0" "3530" "0" "c.3530G>A" "r.(?)" "p.(Arg1177Gln)" "" "0001032467" "00018517" "30" "4552" "-299" "4552" "-299" "c.4552-299G>A" "r.(=)" "p.(=)" "" "0001032468" "00018517" "50" "5178" "0" "5178" "0" "c.5178T>G" "r.(?)" "p.(Ser1726Arg)" "" "0001032469" "00018517" "90" "5626" "0" "5626" "0" "c.5626C>T" "r.(?)" "p.(Arg1876*)" "" "0001045276" "00018517" "70" "1086" "0" "1086" "0" "c.1086T>G" "r.(?)" "p.(Tyr362*)" "9" "0001049062" "00018517" "90" "4877" "0" "4877" "0" "c.4877G>A" "r.(?)" "p.(Arg1626Gln)" "" "0001049067" "00018517" "90" "2635" "0" "2635" "0" "c.2635G>A" "r.(?)" "p.(Gly879Arg)" "" "0001050851" "00018517" "50" "-153249" "0" "-153249" "0" "c.-153249A>G" "r.(?)" "p.(=)" "" "0001050852" "00018517" "30" "-153204" "0" "-153204" "0" "c.-153204G>A" "r.(?)" "p.(=)" "" "0001050853" "00018517" "50" "-147369" "0" "-147369" "0" "c.-147369C>G" "r.(?)" "p.(=)" "" "0001050854" "00018517" "30" "-131514" "0" "-131514" "0" "c.-131514C>T" "r.(?)" "p.(=)" "" "0001050855" "00018517" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Ser54Asn)" "" "0001050856" "00018517" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Arg533Lys)" "" "0001059115" "00018517" "90" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Arg524Ter)" "" "0001059116" "00018517" "90" "2306" "0" "2306" "0" "c.2306T>C" "r.(?)" "p.(Ile769Thr)" "" "0001059117" "00018517" "90" "708" "0" "708" "0" "c.708del" "r.(?)" "p.(Ile237LeufsTer5)" "" "0001059118" "00018517" "90" "4895" "0" "4895" "0" "c.4895G>A" "r.(?)" "p.(Arg1632Lys)" "" "0001059119" "00018517" "90" "4308" "2" "4308" "2" "c.4308+2T>C" "r.spl" "p.?" "" "0001059120" "00018517" "90" "790" "0" "790" "0" "c.790C>G" "r.(?)" "p.(Leu264Val)" "" "0001059121" "00018517" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(Asp284Gly)" "" "0001059122" "00018517" "90" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853Gln)" "" "0001062262" "00018517" "70" "5672" "0" "5672" "0" "c.5672T>A" "r.(?)" "p.(Val1891Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 90 "{{screeningid}}" "{{variantid}}" "0000016255" "0000036001" "0000050379" "0000079359" "0000050409" "0000079389" "0000050418" "0000079398" "0000050507" "0000079487" "0000050541" "0000079521" "0000050542" "0000079522" "0000050548" "0000079528" "0000050630" "0000079610" "0000050641" "0000079621" "0000050646" "0000079626" "0000081198" "0000130284" "0000102538" "0000165278" "0000117342" "0000188187" "0000117356" "0000188201" "0000117356" "0000188464" "0000117435" "0000188280" "0000117502" "0000188514" "0000117572" "0000188415" "0000155832" "0000356915" "0000164610" "0000367859" "0000177904" "0000400780" "0000184010" "0000407948" "0000207846" "0000437552" "0000262280" "0000592562" "0000270686" "0000604474" "0000275333" "0000629297" "0000293476" "0000650165" "0000293477" "0000650166" "0000293478" "0000650167" "0000293479" "0000650168" "0000296340" "0000653029" "0000302382" "0000665615" "0000302504" "0000665793" "0000302785" "0000666139" "0000304176" "0000667574" "0000304178" "0000667576" "0000304244" "0000667672" "0000304245" "0000667673" "0000304246" "0000667674" "0000304247" "0000667675" "0000304248" "0000667676" "0000307355" "0000673981" "0000308905" "0000683339" "0000308906" "0000683340" "0000326605" "0000710190" "0000373991" "0000784671" "0000375671" "0000787022" "0000375821" "0000787172" "0000376031" "0000787382" "0000376032" "0000787383" "0000376033" "0000787384" "0000376860" "0000788915" "0000378341" "0000791066" "0000382153" "0000795867" "0000413638" "0000871146" "0000417515" "0000877212" "0000418208" "0000877970" "0000420012" "0000909973" "0000425927" "0000902748" "0000429119" "0000908541" "0000429472" "0000908975" "0000437896" "0000933341" "0000439780" "0000935909" "0000439789" "0000936033" "0000439827" "0000935956" "0000439860" "0000935989" "0000439898" "0000936027" "0000440096" "0000936254" "0000440130" "0000936288" "0000440149" "0000936307" "0000449511" "0000959729" "0000451146" "0000984924" "0000457384" "0001011887" "0000457463" "0001011966" "0000457464" "0001011967" "0000459658" "0001017749" "0000459715" "0001017818" "0000467465" "0001045276" "0000468968" "0001049062" "0000468973" "0001049067" "0000470993" "0001059115" "0000470994" "0001059116" "0000470995" "0001059117" "0000470996" "0001059118" "0000470997" "0001059119" "0000470998" "0001059120" "0000470999" "0001059121" "0000471000" "0001059122" "0000473394" "0001062262"