### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLA2G6) # 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}}" "PLA2G6" "phospholipase A2, group VI (cytosolic, calcium-independent)" "22" "q13.1" "unknown" "NG_007094.2" "UD_132118708625" "" "https://www.LOVD.nl/PLA2G6" "" "1" "9039" "8398" "603604" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PLA2G6_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-03-29 00:00:00" "00006" "2017-06-28 15:38:14" "00000" "2025-07-08 13:22:38" ## 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}}" "00024274" "PLA2G6" "transcript variant 1" "010" "NM_003560.2" "" "NP_003551.2" "" "" "" "-136" "3087" "2421" "38577761" "38507502" "00006" "2017-06-28 15:38:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00759" "NBIA2A" "neurodegeneration, with brain iron accumulation, type 2A (NBIA-2A, infantile neuroaxonal dystrophy, type 1)" "AR" "256600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00760" "NBIA2B" "neurodegeneration, with brain iron accumulation, type 2B (NBIA-2B)" "AR" "610217" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00761" "PARK14" "Parkinson disease, type 14 (PARK-14)" "AR" "612953" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05229" "NBIA" "neurodegeneration, with brain iron accumulation (NBIA)" "" "" "" "" "" "00006" "2017-03-02 13:09:37" "" "" "05300" "INAD" "dystrophy, neuroaxonal, infantile (INAD)" "" "" "" "" "" "00006" "2017-07-03 16:57:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PLA2G6" "00139" "PLA2G6" "00759" "PLA2G6" "00760" "PLA2G6" "00761" ## Individuals ## Do not remove or alter this header ## ## Count = 106 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00080812" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00080813" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080814" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080815" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080816" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080820" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00080821" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00102079" "" "" "" "1" "" "01864" "" "" "M" "yes" "China" ">04y" "0" "" "" "" "P8" "00117657" "" "" "" "2" "" "02125" "{PMID:Wu 2009:19138334}" "Found in 2 affected individuals from separate families" "" "" "" "" "0" "" "" "" "" "00117658" "" "" "" "4" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 4 affected individuals from separate families (Euro.J. of Neurol.2009;16:240-245) (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117659" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117660" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117661" "" "" "" "3" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 3 affected individuals from separate families (Neurol. 2008;71(18):1402-9) (Euro.J. of Neurol.2009;16:240-245)" "" "" "" "" "0" "" "" "" "" "00117662" "" "" "" "2" "" "02125" "{PMID:Gregory 2008:18799783}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117663" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol. 2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117664" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol. 2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117665" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory; {PMID:Crompton 2010:20226704}" "" "" "" "" "" "0" "" "" "" "" "00117666" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117667" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117668" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 4 affected individuals, 2 individuals from the same family (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117669" "" "" "" "1" "" "02125" "{PMID:Morgan 2006:16783378}" "" "" "" "" "" "0" "" "" "" "" "00117670" "" "" "" "1" "" "02125" "{PMID:Crompton 2010:20226704}" "" "" "" "" "" "0" "" "" "" "" "00117671" "" "" "" "2" "" "02125" "{PMID:Gregory 2008:18799783}" "Found in 2 affected individuals from separate families (West Midlands regional genetic lab)" "" "" "" "" "0" "" "" "" "" "00117672" "" "" "" "1" "" "02125" "{PMID:Gregory 2008:18799783}" "" "" "" "" "" "0" "" "" "" "" "00117673" "" "" "" "1" "" "02125" "{PMID:Kurian 2008:18443314}" "" "" "" "" "" "0" "" "" "" "" "00117674" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117675" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117676" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117677" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117678" "" "" "" "2" "" "02125" "{PMID:Kurian 2008:18443314}" "Found in 2 affected individuals from separate families (West Midlands regional genetics)" "" "" "" "" "0" "" "" "" "" "00117679" "" "" "" "3" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 3 affected individuals from separate families (Euro.J.of Neurol.2009;16:240-245) (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117680" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117681" "" "" "" "4" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 4 affected individuals, 2 individuals from the same family (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117682" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117683" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117684" "" "" "" "2" "" "02125" "{PMID:Gregory 2008:18799783}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117685" "" "" "" "1" "" "02125" "{PMID:Kurian 2008:18443314}" "" "" "" "" "" "0" "" "" "" "" "00117686" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117687" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117688" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117689" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117690" "" "" "" "4" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 4 affected individuals from separate families (Neurol.2008;71(18):1402-9) (Euro.J.of Paed.neurol. 2008;12:491-500)" "" "" "" "" "0" "" "" "" "" "00117691" "" "" "" "3" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 3 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117692" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117693" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117694" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117695" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117696" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117697" "" "" "" "11" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 11 affected individuals, 4 individuals from the same family (West Midlands regional genetics)" "" "" "" "" "0" "" "" "" "" "00117698" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117699" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117700" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "" "" "" "" "" "0" "" "" "" "" "00117701" "" "" "" "2" "" "02125" "{PMID:Gregory 2008:18799783}" "" "" "" "" "" "0" "" "" "" "" "00117702" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117703" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117704" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117705" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (West Midlands regional genetics lab)" "" "" "" "" "0" "" "" "" "" "00117706" "" "" "" "1" "" "02125" "{PMID:Morgan 2006:16783378}" "" "" "" "" "" "0" "" "" "" "" "00117707" "" "" "" "1" "" "02125" "{PMID:Morgan 2006:16783378}" "" "" "" "" "" "0" "" "" "" "" "00117708" "" "" "" "1" "" "02125" "{PMID:Sina 2009:19087156}" "" "" "" "" "" "0" "" "" "" "" "00117709" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117710" "" "" "" "1" "" "02125" "West Midlands Regional Genetics laboratory" "" "" "" "" "" "0" "" "" "" "" "00117711" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117712" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117713" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117714" "" "" "" "1" "" "02125" "{PMID:Wu 2009:19138334}" "" "" "" "" "" "0" "" "" "" "" "00117715" "" "" "" "2" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 2 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117716" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117717" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117718" "" "" "" "1" "" "02125" "{PMID:Paisan-Ruiz 2009:18570303}" "" "" "" "" "" "0" "" "" "" "" "00117719" "" "" "" "1" "" "02125" "{PMID:Paisan-Ruiz 2009:18570303}" "" "" "" "" "" "0" "" "" "" "" "00117720" "" "" "" "3" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 3 affected individuals from separate families (Neurol.2008;71(18):1402-9)" "" "" "" "" "0" "" "" "" "" "00117721" "" "" "" "1" "" "02125" "{PMID:Gregory 2008:18799783}" "" "" "" "" "" "0" "" "" "" "" "00117722" "" "" "" "1" "" "02125" "West Midlands Regional Genetics Laboratory" "" "" "" "" "" "0" "" "" "" "" "00117723" "" "" "" "11" "" "02125" "{PMID:Morgan 2006:16783378}" "Found in 11 affected individuals, 4 individuals from the same family (Neurol.2008;71(18):1402-9) (Euro.J.of Paed.Neurol.2008 12;491-500) (West Midlands regional genetics lab)" "" "" "" "" "0" "" "" "" "" "00150155" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3743" "00163744" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00174391" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00174392" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00285840" "" "" "" "1" "" "03582" "" "" "" "" "China" "" "0" "" "" "" "" "00293120" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293121" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293122" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293123" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295414" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302903" "" "" "" "1" "" "00006" "{PMID:Seibler 2018:30169597}" "" "F" "" "Germany" "" "0" "" "" "" "patient" "00306161" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00333485" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "3719" "00335840" "" "" "" "1" "" "04007" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00361518" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG1212" "00361668" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "no" "Saudi Arabia" "" "0" "" "" "" "12DG2111" "00374439" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-19" "00374440" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3802" "00374441" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0832" "00374442" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4155" "00374443" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4795" "00374444" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1249" "00374617" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2433" "00374808" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2072" "00374809" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0862" "00380789" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00404933" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam15" "00418516" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam13" "00426145" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "11SS9200" "00453477" "" "" "" "3" "" "04409" "{PMID:Xiao 2024:39300495}" "" "M" "no" "China" "" "" "" "" "Chinese" "OGM_P2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 106 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00080812" "00759" "00080813" "00759" "00080814" "00759" "00080815" "00759" "00080816" "00759" "00080820" "00760" "00080821" "00759" "00102079" "00139" "00117657" "05300" "00117658" "05300" "00117659" "05300" "00117660" "05300" "00117661" "05300" "00117662" "05300" "00117663" "05300" "00117664" "05300" "00117665" "05300" "00117666" "05300" "00117667" "05300" "00117668" "05300" "00117669" "05300" "00117670" "05300" "00117671" "05300" "00117672" "05300" "00117673" "05300" "00117674" "05300" "00117675" "05300" "00117676" "05300" "00117677" "05300" "00117678" "05300" "00117679" "05300" "00117680" "05300" "00117681" "05300" "00117682" "05300" "00117683" "05300" "00117684" "05300" "00117685" "05300" "00117686" "05300" "00117687" "05300" "00117688" "05300" "00117689" "05300" "00117690" "05300" "00117691" "05300" "00117692" "05300" "00117693" "05300" "00117694" "05300" "00117695" "05300" "00117696" "05300" "00117697" "05300" "00117698" "05300" "00117699" "05300" "00117700" "05300" "00117701" "05300" "00117702" "05300" "00117703" "05300" "00117704" "05300" "00117705" "05300" "00117706" "05300" "00117707" "05300" "00117708" "00761" "00117709" "05300" "00117710" "05300" "00117711" "05300" "00117712" "05300" "00117713" "05300" "00117714" "05300" "00117715" "05300" "00117716" "05300" "00117717" "05300" "00117718" "00761" "00117719" "00761" "00117720" "05300" "00117721" "05300" "00117722" "05300" "00117723" "05300" "00150155" "00198" "00163744" "00198" "00174391" "00198" "00174392" "00198" "00285840" "05300" "00293120" "00198" "00293121" "00198" "00293122" "00198" "00293123" "00198" "00295414" "00198" "00302903" "05229" "00306161" "00198" "00333485" "04214" "00335840" "00761" "00361518" "00139" "00361668" "00139" "00374439" "00198" "00374440" "00198" "00374441" "00198" "00374442" "00198" "00374443" "00198" "00374444" "00198" "00374617" "00198" "00374808" "00198" "00374809" "00198" "00380789" "00759" "00404933" "05123" "00418516" "00198" "00426145" "00139" "00453477" "04225" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00759, 00760, 00761, 01157, 04214, 04225, 05123, 05229, 05300 ## Count = 100 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000060381" "00759" "00080812" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000060382" "00759" "00080813" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000060383" "00759" "00080814" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000060384" "00759" "00080815" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000060385" "00759" "00080816" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy type 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000060389" "00760" "00080820" "01758" "Familial, autosomal recessive" "" "Neurodegeneration with brain iron accumulation 2B (OMIM:610217)" "" "" "" "" "" "" "" "" "" "" "" "0000060390" "00759" "00080821" "01758" "Familial, autosomal recessive" "" "Infantile neuroaxonal dystrophy 1 (OMIM:256600)" "" "" "" "" "" "" "" "" "" "" "" "0000080265" "00139" "00102079" "01864" "Isolated (sporadic)" "" "HP:0001270; HP:0001263; HP:0002061; HP:0008936; intellectual disability (HP:0001249); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000093123" "05300" "00117657" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093124" "05300" "00117658" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093125" "05300" "00117659" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093126" "05300" "00117660" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093127" "05300" "00117661" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093128" "05300" "00117662" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093129" "05300" "00117663" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093130" "05300" "00117664" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093131" "05300" "00117665" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093132" "05300" "00117666" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093133" "05300" "00117667" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093134" "05300" "00117668" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093135" "05300" "00117669" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093136" "05300" "00117670" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093137" "05300" "00117671" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093138" "05300" "00117672" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093139" "05300" "00117673" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093140" "05300" "00117674" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093141" "05300" "00117675" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093142" "05300" "00117676" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093143" "05300" "00117677" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093144" "05300" "00117678" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093145" "05300" "00117679" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093146" "05300" "00117680" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093147" "05300" "00117681" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093148" "05300" "00117682" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093149" "05300" "00117683" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093150" "05300" "00117684" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093151" "05300" "00117685" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093152" "05300" "00117686" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093153" "05300" "00117687" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093154" "05300" "00117688" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093155" "05300" "00117689" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093156" "05300" "00117690" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093157" "05300" "00117691" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093158" "05300" "00117692" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093159" "05300" "00117693" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093160" "05300" "00117694" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093161" "05300" "00117695" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093162" "05300" "00117696" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093163" "05300" "00117697" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093164" "05300" "00117698" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093165" "05300" "00117699" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093166" "05300" "00117700" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093167" "05300" "00117701" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093168" "05300" "00117702" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093169" "05300" "00117703" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093170" "05300" "00117704" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093171" "05300" "00117705" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093172" "05300" "00117706" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093173" "05300" "00117707" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093174" "00761" "00117708" "02125" "Unknown" "" "Adult onset PLAN (dystonia parkinsonism)" "" "" "" "" "" "" "" "" "" "" "" "0000093175" "05300" "00117709" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093176" "05300" "00117710" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093177" "05300" "00117711" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093178" "05300" "00117712" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093179" "05300" "00117713" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093180" "05300" "00117714" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093181" "05300" "00117715" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093182" "05300" "00117716" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093183" "05300" "00117717" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093184" "00761" "00117718" "02125" "Unknown" "" "Adult onset PLAN (dystonia parkinsonism)" "" "" "" "" "" "" "" "" "" "" "" "0000093185" "00761" "00117719" "02125" "Unknown" "" "Adult onset PLAN (dystonia parkinsonism)" "" "" "" "" "" "" "" "" "" "" "" "0000093186" "05300" "00117720" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093187" "05300" "00117721" "02125" "Unknown" "" "Childhood onset PLAN (atypical neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000093188" "05300" "00117722" "02125" "Unknown" "" "Infantile onset PLAN (classical)" "" "" "" "" "" "" "" "" "" "" "" "0000093189" "05300" "00117723" "02125" "Unknown" "" "Infantile onset PLAN (classical infantile neuroaxonal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000122557" "00198" "00150155" "00006" "Familial, autosomal recessive" "" "intellectual diability, epilepsy, cortical atrophy, cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000128882" "00198" "00163744" "01807" "Unknown" "" "HP:0012675 (Iron accumulation in brain)" "" "" "" "" "" "" "" "" "" "" "" "0000139229" "00198" "00174391" "01807" "Unknown" "" "HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000139230" "00198" "00174392" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000219685" "05300" "00285840" "03582" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229981" "05229" "00302903" "00006" "Isolated (sporadic)" "20y" "global developmental delay all motor and cognitive milestones; walk-3y, impaired comprehension, speech only single words; fine motor skills impaired, gait unstable with recurrent falls; 1y-febrile seizures with recurrent epileptic discharges in EEG recordings until 16y; 20y-mental retardation, autistic features, hand-clapping stereotypies, vertical supranuclear gaze palsy, generalized axial more than appendicular bradykinesia, generalized dystonia with involvement arms, legs and trunk, mild spasticity legs; gait slow with small steps not shuffling, walked with both feet slightly plantar-flexed and right foot also everted, when walking trunk flexed by 20degrees and slightly tilted to left" "" "" "" "" "" "" "" "" "NBIA5" "global developmental delay" "" "0000232001" "00198" "00306161" "01164" "Unknown" "" "Hypomimic face (HP:0000338); Abnormality of the musculature of the neck (HP:0011006); Dystonia (HP:0001332); Dysphonia (HP:0001618); Bradykinesia (HP:0002067); Abnormality of movement (HP:0100022); Pain (HP:0012531); Flexion contracture (HP:0001371)" "" "" "" "" "" "" "" "" "" "" "" "0000251670" "04214" "00333485" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256923" "00139" "00361518" "00006" "Familial, autosomal recessive" "6y6m" "not syndromic; neurodegeneration, mild microcephaly, spasticity, large capillary hemangioma" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257073" "00139" "00361668" "00006" "Familial, autosomal recessive" "8y" "not syndromic; Neurodegeneration" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269649" "00198" "00374439" "00006" "Familial, autosomal recessive" "" "Mild delay in milestones, regression, delayed motor development, autistic behavior, dystonia, optic nerve pallor and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "infantile neuroaxonal dystrophy" "" "0000269650" "00198" "00374440" "00006" "Familial, autosomal recessive" "" "Features suggestive of INAD" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000269651" "00198" "00374441" "00006" "Familial, autosomal recessive" "" "Gait abnormalities, slurred speech and dysarthria. Brain MRI showed cerebellar atrophy" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269652" "00198" "00374442" "00006" "Familial, autosomal recessive" "" "Developmental delay, motor regression, ataxia, nystagmus, cerebellar atrophy and generalised motor neuronal axonopathy" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269653" "00198" "00374443" "00006" "Familial, autosomal recessive" "" "Global developmental delay, abnormal gait, ataxia, spasticity, toe walking, brisk reflexes, cerebellar atrophy, behavioral disturbances and mild cognitive impairment" "" "" "" "" "" "" "" "" "" "ataxia, spasticity" "" "0000269654" "00198" "00374444" "00006" "Familial, autosomal recessive" "" "Fleeting depression symptoms since the last 5-6 years, tremors, stiffness, postural instability, dystonic posturing and urinary incontinence" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000269827" "00198" "00374617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodegeneration with brain iron accumulation" "" "0000270018" "00198" "00374808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000270019" "00198" "00374809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Infantile neuroaxonal dystrophy" "" "0000273426" "00761" "00335840" "04007" "Familial, autosomal recessive" "" "progressive asymmetric parkinsonian syndrome, with rigidity, hypokinesia, resting and postural tremor predominantly on the right, cognitive decline, cerebellar atrophy and brain iron accumulation." "32y" "43y" "" "PLA2G6" "" "" "" "" "" "" "" "0000274642" "00759" "00380789" "00000" "Familial" "" "DD; ID; seizures; cerebellar atrophy (Neurological)" "" "" "" "" "" "" "" "" "Infantile neuroaxonal dystrophy 1" "" "" "0000297491" "05123" "00404933" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000317295" "00139" "00426145" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "Infantile neuroaxonal dystrophy 1" "intellectual disability" "" "0000342140" "04225" "00453477" "04409" "Familial, autosomal recessive" "02y01m" "He presents with global developmental delay and regression. His birth history was not remarkable. Motor regression occurred at 7-8 months, and he exhibits no speech, hypotonia, and self-injurious behavior. Additionally, he shows reduced pain sensation and an inability to comprehend language. Brain MRI revealed cerebellar atrophy, similar to his older sister. Progressive regression occurred after 1 year, with developmental delay, inability to sit, roll over, or move limbs freely, and hypotonia. He has poor chewing ability, limited speech expression, and a poor response to rehabilitation. Unfortunately, he deceased at 5 years and 6 months. Brain MRI showed cerebellar atrophy and abnormal signals in the bilateral dentate and globus pallidus." "" "03y" "" "" "" "" "" "" "Neurodegeneration with brain iron accumulation 2B" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 106 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000080924" "00080812" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080925" "00080813" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080926" "00080814" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080927" "00080815" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080928" "00080816" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080932" "00080820" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080933" "00080821" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000102528" "00102079" "1" "01864" "01864" "2017-03-30 08:13:51" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000118120" "00117657" "1" "00006" "02125" "2010-06-16 18:19:05" "00096" "2010-06-25 13:41:17" "SEQ" "DNA" "" "" "0000118121" "00117658" "1" "00006" "02125" "2010-06-11 13:02:27" "00096" "2010-06-25 13:49:37" "SEQ" "DNA" "" "" "0000118122" "00117659" "1" "00006" "02125" "2010-06-17 17:19:02" "00096" "2010-06-25 14:03:26" "SEQ" "DNA" "" "" "0000118123" "00117660" "1" "00006" "02125" "2010-06-17 17:12:47" "00096" "2010-06-25 14:03:26" "SEQ" "DNA" "" "" "0000118124" "00117661" "1" "00006" "02125" "2010-06-09 19:23:56" "02125" "2010-06-09 19:31:20" "SEQ" "DNA" "" "" "0000118125" "00117662" "1" "00006" "02125" "2010-06-15 18:28:58" "00096" "2010-06-25 14:00:56" "SEQ" "DNA" "" "" "0000118126" "00117663" "1" "00006" "02125" "2010-06-09 22:20:02" "00096" "2010-06-25 14:06:01" "SEQ" "DNA" "" "" "0000118127" "00117664" "1" "00006" "02125" "2010-06-11 12:46:50" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118128" "00117665" "1" "00006" "02125" "2010-06-18 10:44:55" "00096" "2010-06-25 13:54:45" "SEQ" "DNA" "" "" "0000118129" "00117666" "1" "00006" "02125" "2010-06-15 17:56:13" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118130" "00117667" "1" "00006" "02125" "2010-06-11 15:52:56" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118131" "00117668" "1" "00006" "02125" "2010-06-15 15:42:00" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118132" "00117669" "1" "00006" "02125" "2010-06-15 18:05:19" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118133" "00117670" "1" "00006" "02125" "2010-06-18 10:49:54" "00096" "2010-06-25 13:53:33" "SEQ" "DNA" "" "" "0000118134" "00117671" "1" "00006" "02125" "2010-06-16 18:12:37" "00096" "2010-06-25 13:42:07" "SEQ" "DNA" "" "" "0000118135" "00117672" "1" "00006" "02125" "2010-06-16 18:15:07" "00096" "2010-06-25 14:00:56" "SEQ" "DNA" "" "" "0000118136" "00117673" "1" "00006" "02125" "2010-06-18 11:08:28" "00096" "2010-06-25 14:35:11" "SEQ" "DNA" "" "" "0000118137" "00117674" "1" "00006" "02125" "2010-06-15 18:15:51" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118138" "00117675" "1" "00006" "02125" "2010-06-15 15:53:22" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118139" "00117676" "1" "00006" "02125" "2010-06-15 17:46:39" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118140" "00117677" "1" "00006" "02125" "2011-04-19 16:46:41" "02125" "2011-04-19 17:00:37" "SEQ" "DNA" "" "" "0000118141" "00117678" "1" "00006" "02125" "2010-06-18 11:18:42" "00096" "2010-06-25 14:35:11" "SEQ" "DNA" "" "" "0000118142" "00117679" "1" "00006" "02125" "2010-06-15 17:49:36" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118143" "00117680" "1" "00006" "02125" "2010-06-11 14:32:11" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118144" "00117681" "1" "00006" "02125" "2010-06-11 15:00:18" "" "" "SEQ" "DNA" "" "" "0000118145" "00117682" "1" "00006" "02125" "2010-06-15 18:19:29" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118146" "00117683" "1" "00006" "02125" "2010-06-10 16:17:57" "" "" "SEQ" "DNA" "" "" "0000118147" "00117684" "1" "00006" "02125" "2010-06-10 16:29:18" "" "" "SEQ" "DNA" "" "" "0000118148" "00117685" "1" "00006" "02125" "2010-06-18 11:21:47" "00096" "2010-06-25 14:35:11" "SEQ" "DNA" "" "" "0000118149" "00117686" "1" "00006" "02125" "2010-06-16 18:24:39" "00096" "2010-06-25 13:42:53" "SEQ" "DNA" "" "" "0000118150" "00117687" "1" "00006" "02125" "2010-06-16 18:29:12" "00096" "2010-06-25 13:43:26" "SEQ" "DNA" "" "" "0000118151" "00117688" "1" "00006" "02125" "2011-04-19 16:49:08" "02125" "2011-04-19 17:01:15" "SEQ" "DNA" "" "" "0000118152" "00117689" "1" "00006" "02125" "2010-06-11 14:40:52" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118153" "00117690" "1" "00006" "02125" "2010-06-15 18:00:18" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118154" "00117691" "1" "00006" "02125" "2010-06-11 14:55:54" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118155" "00117692" "1" "00006" "02125" "2010-06-18 11:26:51" "" "" "SEQ" "DNA" "" "" "0000118156" "00117693" "1" "00006" "02125" "2010-06-11 14:37:22" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118157" "00117694" "1" "00006" "02125" "2010-06-18 11:03:02" "" "" "SEQ" "DNA" "" "" "0000118158" "00117695" "1" "00006" "02125" "2011-04-19 16:57:31" "" "" "SEQ" "DNA" "" "" "0000118159" "00117696" "1" "00006" "02125" "2010-06-16 18:26:53" "00096" "2010-06-25 13:44:16" "SEQ" "DNA" "" "" "0000118160" "00117697" "1" "00006" "02125" "2010-06-09 22:35:00" "" "" "SEQ" "DNA" "" "" "0000118161" "00117698" "1" "00006" "02125" "2010-06-18 11:05:11" "" "" "SEQ" "DNA" "" "" "0000118162" "00117699" "1" "00006" "02125" "2010-06-15 16:00:26" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118163" "00117700" "1" "00006" "02125" "2010-06-11 15:25:36" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118164" "00117701" "1" "00006" "02125" "2010-06-11 15:30:00" "00096" "2010-06-25 14:00:56" "SEQ" "DNA" "" "" "0000118165" "00117702" "1" "00006" "02125" "2010-06-18 11:00:33" "" "" "SEQ" "DNA" "" "" "0000118166" "00117703" "1" "00006" "02125" "2010-06-15 15:48:26" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118167" "00117704" "1" "00006" "02125" "2010-06-16 18:22:15" "00096" "2010-06-25 13:44:55" "SEQ" "DNA" "" "" "0000118168" "00117705" "1" "00006" "02125" "2010-06-11 13:10:22" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118169" "00117706" "1" "00006" "02125" "2010-06-11 12:55:18" "" "" "SEQ" "DNA" "" "" "0000118170" "00117707" "1" "00006" "02125" "2010-06-09 22:41:25" "" "" "SEQ" "DNA" "" "" "0000118171" "00117708" "1" "00006" "02125" "2010-06-10 16:11:05" "" "" "SEQ" "DNA" "" "" "0000118172" "00117709" "1" "00006" "02125" "2010-06-11 14:46:27" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118173" "00117710" "1" "00006" "02125" "2010-06-18 10:55:54" "" "" "SEQ" "DNA" "" "" "0000118174" "00117711" "1" "00006" "02125" "2010-06-17 17:16:21" "00096" "2010-06-25 14:03:26" "SEQ" "DNA" "" "" "0000118175" "00117712" "1" "00006" "02125" "2010-06-18 10:58:02" "" "" "SEQ" "DNA" "" "" "0000118176" "00117713" "1" "00006" "02125" "2011-04-19 16:59:37" "" "" "SEQ" "DNA" "" "" "0000118177" "00117714" "1" "00006" "02125" "2010-06-18 10:32:34" "00096" "2010-06-25 14:03:26" "SEQ" "DNA" "" "" "0000118178" "00117715" "1" "00006" "02125" "2010-06-11 15:06:10" "00096" "2010-06-25 13:50:26" "SEQ" "DNA" "" "" "0000118179" "00117716" "1" "00006" "02125" "2011-04-19 17:02:52" "" "" "SEQ" "DNA" "" "" "0000118180" "00117717" "1" "00006" "02125" "2011-04-19 17:04:07" "" "" "SEQ" "DNA" "" "" "0000118181" "00117718" "1" "00006" "02125" "2010-06-18 10:35:24" "00096" "2010-06-25 14:36:55" "SEQ" "DNA" "" "" "0000118182" "00117719" "1" "00006" "02125" "2010-06-18 10:38:50" "00096" "2010-06-25 14:36:55" "SEQ" "DNA" "" "" "0000118183" "00117720" "1" "00006" "02125" "2010-06-09 22:28:30" "" "" "SEQ" "DNA" "" "" "0000118184" "00117721" "1" "00006" "02125" "2010-06-16 18:09:58" "00096" "2010-06-25 14:00:56" "SEQ" "DNA" "" "" "0000118185" "00117722" "1" "00006" "02125" "2011-04-19 17:06:28" "" "" "SEQ" "DNA" "" "" "0000118186" "00117723" "1" "00006" "02125" "2010-06-11 12:39:33" "00096" "2010-06-25 13:48:46" "SEQ" "DNA" "" "" "0000151010" "00150155" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000164609" "00163744" "1" "01807" "01807" "2018-04-06 04:02:10" "" "" "SEQ" "DNA" "" "" "0000175282" "00174391" "1" "01807" "01807" "2018-08-08 12:36:26" "" "" "SEQ" "DNA" "" "" "0000175283" "00174392" "1" "01807" "01807" "2018-08-08 12:36:27" "" "" "SEQ" "DNA" "" "" "0000287006" "00285840" "1" "03582" "03582" "2020-02-08 10:37:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000294288" "00293120" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294289" "00293121" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294290" "00293122" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294291" "00293123" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296582" "00295414" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304029" "00302903" "1" "00006" "00006" "2020-06-03 16:26:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000307293" "00306161" "1" "01164" "01164" "2020-07-09 16:04:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000334710" "00333485" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000337070" "00335840" "1" "04007" "04007" "2021-03-09 12:29:04" "04007" "2021-03-10 12:01:36" "RT-PCR;RT-PCRq;SEQ;SEQ-NG" "DNA;RNA" "Skin fibroblasts, blood" "" "0000362746" "00361518" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000362896" "00361668" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375633" "00374439" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375634" "00374440" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375635" "00374441" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375636" "00374442" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375637" "00374443" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375638" "00374444" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375811" "00374617" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376002" "00374808" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376003" "00374809" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382003" "00380789" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000406171" "00404933" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419811" "00418516" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000427465" "00426145" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455091" "00453477" "1" "04409" "04409" "2024-09-05 11:53:50" "" "" "OM" "DNA" "whole blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 92 "{{screeningid}}" "{{geneid}}" "0000080924" "PLA2G6" "0000080925" "PLA2G6" "0000080926" "PLA2G6" "0000080927" "PLA2G6" "0000080928" "PLA2G6" "0000080932" "PLA2G6" "0000080933" "PLA2G6" "0000102528" "PLA2G6" "0000118120" "PLA2G6" "0000118121" "PLA2G6" "0000118122" "PLA2G6" "0000118123" "PLA2G6" "0000118124" "PLA2G6" "0000118125" "PLA2G6" "0000118126" "PLA2G6" "0000118127" "PLA2G6" "0000118128" "PLA2G6" "0000118129" "PLA2G6" "0000118130" "PLA2G6" "0000118131" "PLA2G6" "0000118132" "PLA2G6" "0000118133" "PLA2G6" "0000118134" "PLA2G6" "0000118135" "PLA2G6" "0000118136" "PLA2G6" "0000118137" "PLA2G6" "0000118138" "PLA2G6" "0000118139" "PLA2G6" "0000118140" "PLA2G6" "0000118141" "PLA2G6" "0000118142" "PLA2G6" "0000118143" "PLA2G6" "0000118144" "PLA2G6" "0000118145" "PLA2G6" "0000118146" "PLA2G6" "0000118147" "PLA2G6" "0000118148" "PLA2G6" "0000118149" "PLA2G6" "0000118150" "PLA2G6" "0000118151" "PLA2G6" "0000118152" "PLA2G6" "0000118153" "PLA2G6" "0000118154" "PLA2G6" "0000118155" "PLA2G6" "0000118156" "PLA2G6" "0000118157" "PLA2G6" "0000118158" "PLA2G6" "0000118159" "PLA2G6" "0000118160" "PLA2G6" "0000118161" "PLA2G6" "0000118162" "PLA2G6" "0000118163" "PLA2G6" "0000118164" "PLA2G6" "0000118165" "PLA2G6" "0000118166" "PLA2G6" "0000118167" "PLA2G6" "0000118168" "PLA2G6" "0000118169" "PLA2G6" "0000118170" "PLA2G6" "0000118171" "PLA2G6" "0000118172" "PLA2G6" "0000118173" "PLA2G6" "0000118174" "PLA2G6" "0000118175" "PLA2G6" "0000118176" "PLA2G6" "0000118177" "PLA2G6" "0000118178" "PLA2G6" "0000118179" "PLA2G6" "0000118180" "PLA2G6" "0000118181" "PLA2G6" "0000118182" "PLA2G6" "0000118183" "PLA2G6" "0000118184" "PLA2G6" "0000118185" "PLA2G6" "0000118186" "PLA2G6" "0000151010" "PLA2G6" "0000287006" "PLA2G6" "0000304029" "WDR45" "0000334710" "PLA2G6" "0000337070" "PLA2G6" "0000362746" "PLA2G6" "0000362896" "PLA2G6" "0000375633" "PLA2G6" "0000375634" "PLA2G6" "0000375635" "PLA2G6" "0000375636" "PLA2G6" "0000375637" "PLA2G6" "0000375638" "PLA2G6" "0000375811" "PLA2G6" "0000376002" "PLA2G6" "0000376003" "PLA2G6" "0000455091" "PLA2G6" ## 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 = 296 "{{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}}" "0000006089" "3" "50" "22" "38523065" "38523065" "subst" "0" "00037" "PLA2G6_000093" "g.38523065T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38127058T>C" "" "VUS" "" "0000006090" "3" "50" "22" "38523211" "38523211" "subst" "0" "00037" "PLA2G6_000091" "g.38523211G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38127204G>A" "" "VUS" "" "0000006091" "3" "50" "22" "38523246" "38523246" "subst" "0" "00037" "PLA2G6_000092" "g.38523246C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38127239C>G" "" "VUS" "" "0000130010" "3" "90" "22" "38508219" "38508219" "subst" "7.95578E-5" "01758" "PLA2G6_000010" "g.38508219A>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38112212A>C" "" "pathogenic" "ACMG" "0000130011" "3" "90" "22" "38509626" "38509628" "del" "0" "01758" "PLA2G6_000097" "g.38509626_38509628del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38113619_38113621del" "" "pathogenic" "ACMG" "0000130012" "3" "90" "22" "38509626" "38509628" "del" "0" "01758" "PLA2G6_000097" "g.38509626_38509628del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38113619_38113621del" "" "pathogenic" "ACMG" "0000130013" "3" "90" "22" "38508218" "38508219" "del" "2.94155E-5" "01758" "PLA2G6_000002" "g.38508218_38508219del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38112211_38112212del" "" "pathogenic" "ACMG" "0000130014" "3" "70" "22" "38509598" "38509598" "subst" "4.06111E-6" "01758" "PLA2G6_000096" "g.38509598G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38113591G>A" "" "likely pathogenic" "ACMG" "0000130018" "3" "90" "22" "38509626" "38509628" "del" "0" "01758" "PLA2G6_000097" "g.38509626_38509628del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38113619_38113621del" "" "pathogenic" "ACMG" "0000130019" "3" "90" "22" "38519146" "38519147" "dup" "0" "01758" "PLA2G6_000098" "g.38519146_38519147dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.38123139_38123140dup" "" "pathogenic" "ACMG" "0000165270" "3" "90" "22" "38528838" "38528838" "subst" "0" "01864" "PLA2G6_000099" "g.38528838C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38132831C>T" "" "pathogenic" "" "0000194160" "0" "99" "22" "38565433" "38565433" "subst" "4.07222E-6" "02125" "PLA2G6_000050" "g.38565433T>C" "" "" "" "" "Missense of start codon" "Germline" "" "" "0" "" "" "g.38169426T>C" "" "pathogenic" "" "0000194161" "0" "99" "22" "38565325" "38565325" "subst" "3.66038E-5" "02125" "PLA2G6_000014" "g.38565325G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38169318G>A" "" "pathogenic" "" "0000194162" "0" "99" "22" "38565318" "38565318" "subst" "0" "02125" "PLA2G6_000059" "g.38565318C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38169311C>A" "" "pathogenic" "" "0000194163" "0" "99" "22" "38565226" "38565226" "subst" "8.1696E-6" "02125" "PLA2G6_000056" "g.38565226G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38169219G>A" "" "pathogenic" "" "0000194164" "0" "99" "22" "38541632" "38541632" "subst" "8.19598E-6" "02125" "PLA2G6_000001" "g.38541632C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38145625C>T" "" "pathogenic" "" "0000194165" "0" "99" "22" "38541553" "38541553" "del" "0" "02125" "PLA2G6_000041" "g.38541553del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38145546del" "" "pathogenic" "" "0000194166" "0" "99" "22" "38541552" "38541552" "del" "0" "02125" "PLA2G6_000003" "g.38541552del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38145545del" "" "pathogenic" "" "0000194167" "0" "99" "22" "38541466" "38541466" "subst" "0" "02125" "PLA2G6_000011" "g.38541466A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38145459A>G" "" "pathogenic" "" "0000194168" "0" "99" "22" "38528837" "38539296" "" "0" "02125" "PLA2G6_000064" "g.(38525570_38528837)_(38539296_38541444)dup" "" "" "" "" "RNA only" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194169" "0" "99" "22" "38539282" "38539282" "subst" "0.000118547" "02125" "PLA2G6_000037" "g.38539282C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38143275C>T" "" "pathogenic" "" "0000194170" "0" "99" "22" "38539252" "38539252" "subst" "0" "02125" "PLA2G6_000028" "g.38539252G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38143245G>A" "" "pathogenic" "" "0000194171" "0" "99" "22" "38539251" "38539251" "subst" "0" "02125" "PLA2G6_000029" "g.38539251T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38143244T>C" "" "pathogenic" "" "0000194172" "0" "99" "22" "38539251" "38539251" "subst" "0" "02125" "PLA2G6_000040" "g.38539251T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38143244T>C" "" "pathogenic" "" "0000194173" "0" "99" "22" "38530994" "38536177" "" "0" "02125" "PLA2G6_000065" "g.(38529021_38530994)_(38536177_38539111)del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194174" "0" "99" "22" "38536121" "38536121" "subst" "0" "02125" "PLA2G6_000048" "g.38536121G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38140114G>A" "" "pathogenic" "" "0000194175" "0" "99" "22" "38536118" "38536118" "subst" "0" "02125" "PLA2G6_000049" "g.38536118G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38140111G>T" "" "pathogenic" "" "0000194176" "0" "99" "22" "38536067" "38536067" "subst" "0" "02125" "PLA2G6_000071" "g.38536067G>A" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38140060G>A" "" "pathogenic" "" "0000194177" "0" "99" "22" "38536030" "38536038" "del" "0" "02125" "PLA2G6_000043" "g.38536030_38536038del" "" "" "" "751_759del9" "" "Germline" "" "" "0" "" "" "g.38140023_38140031del" "" "pathogenic" "" "0000194178" "0" "99" "22" "38536032" "38536032" "del" "0" "02125" "PLA2G6_000032" "g.38536032del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38140025del" "" "pathogenic" "" "0000194179" "0" "99" "22" "38531041" "38531041" "subst" "1.63441E-5" "02125" "PLA2G6_000035" "g.38531041T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38135034T>C" "" "pathogenic" "" "0000194180" "0" "55" "22" "38530952" "38530952" "del" "0" "02125" "PLA2G6_000078" "g.38530952del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38134945del" "" "VUS" "" "0000194181" "0" "99" "22" "38529010" "38529010" "subst" "0" "02125" "PLA2G6_000073" "g.38529010A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38133003A>C" "" "pathogenic" "" "0000194182" "0" "99" "22" "38528986" "38528986" "subst" "1.15162E-5" "02125" "PLA2G6_000036" "g.38528986A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132979A>T" "" "pathogenic" "" "0000194183" "0" "99" "22" "38528897" "38528897" "subst" "0" "02125" "PLA2G6_000017" "g.38528897C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132890C>T" "" "pathogenic" "" "0000194184" "0" "99" "22" "38528894" "38528894" "subst" "1.29698E-5" "02125" "PLA2G6_000030" "g.38528894C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132887C>T" "" "pathogenic" "" "0000194185" "0" "99" "22" "38528876" "38528876" "subst" "0" "02125" "PLA2G6_000024" "g.38528876C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132869C>T" "" "pathogenic" "" "0000194186" "0" "99" "22" "38528857" "38528857" "subst" "0" "02125" "PLA2G6_000045" "g.38528857G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132850G>A" "" "pathogenic" "" "0000194187" "0" "99" "22" "38528854" "38528854" "subst" "0" "02125" "PLA2G6_000008" "g.38528854A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132847A>G" "" "pathogenic" "" "0000194188" "0" "99" "22" "38528854" "38528854" "subst" "0" "02125" "PLA2G6_000008" "g.38528854A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38132847A>G" "" "pathogenic" "" "0000194189" "0" "99" "22" "38525544" "38525544" "subst" "0" "02125" "PLA2G6_000074" "g.38525544G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38129537G>T" "" "pathogenic" "" "0000194190" "0" "99" "22" "38525536" "38525536" "subst" "4.06075E-6" "02125" "PLA2G6_000053" "g.38525536C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38129529C>T" "" "pathogenic" "" "0000194191" "0" "99" "22" "38525530" "38525530" "subst" "0" "02125" "PLA2G6_000055" "g.38525530T>C" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38129523T>C" "" "pathogenic" "" "0000194192" "0" "55" "22" "38524529" "38524530" "del" "0" "02125" "PLA2G6_000079" "g.38524529_38524530del" "" "" "" "1187-92_-93delAG" "" "Germline" "" "" "0" "" "" "g.38128522_38128523del" "" "VUS" "" "0000194193" "0" "99" "22" "38522454" "38522454" "del" "4.09618E-6" "02125" "PLA2G6_000019" "g.38522454del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38126447del" "" "pathogenic" "" "0000194194" "0" "99" "22" "38522388" "38522388" "subst" "0" "02125" "PLA2G6_000075" "g.38522388C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38126381C>A" "" "pathogenic" "" "0000194195" "0" "99" "22" "38519251" "38519251" "subst" "0" "02125" "PLA2G6_000039" "g.38519251A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123244A>T" "" "pathogenic" "" "0000194196" "0" "99" "22" "38519230" "38519230" "subst" "0" "02125" "PLA2G6_000044" "g.38519230A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123223A>C" "" "pathogenic" "" "0000194197" "0" "99" "22" "38519221" "38519221" "subst" "6.34743E-6" "02125" "PLA2G6_000012" "g.38519221A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123214A>C" "" "pathogenic" "" "0000194198" "0" "99" "22" "38519192" "38519192" "subst" "6.56366E-6" "02125" "PLA2G6_000015" "g.38519192C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123185C>G" "" "pathogenic" "" "0000194199" "0" "99" "22" "38519187" "38519187" "subst" "0" "02125" "PLA2G6_000022" "g.38519187C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123180C>G" "" "pathogenic" "" "0000194200" "0" "99" "22" "38519170" "38519170" "dup" "0" "02125" "PLA2G6_000076" "g.38519170dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123163dup" "" "pathogenic" "" "0000194201" "0" "99" "22" "38519154" "38519157" "del" "0" "02125" "PLA2G6_000018" "g.38519154_38519157del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123147_38123150del" "" "pathogenic" "" "0000194202" "0" "99" "22" "38519144" "38519144" "subst" "6.67664E-6" "02125" "PLA2G6_000046" "g.38519144C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123137C>A" "" "pathogenic" "" "0000194203" "0" "99" "22" "38516896" "38516896" "subst" "0" "02125" "PLA2G6_000069" "g.38516896G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120889G>T" "" "pathogenic" "" "0000194204" "0" "99" "22" "38516896" "38516896" "subst" "1.21942E-5" "02125" "PLA2G6_000023" "g.38516896G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120889G>A" "" "pathogenic" "" "0000194205" "0" "55" "22" "38516893" "38516893" "subst" "0.000698999" "02125" "PLA2G6_000080" "g.38516893C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120886C>T" "" "VUS" "" "0000194206" "0" "99" "22" "38516875" "38516875" "subst" "0" "02125" "PLA2G6_000054" "g.38516875T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120868T>C" "" "pathogenic" "" "0000194207" "0" "99" "22" "38516874" "38516874" "subst" "0" "02125" "PLA2G6_000005" "g.38516874T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120867T>G" "" "pathogenic" "" "0000194208" "0" "99" "22" "38516868" "38516868" "subst" "0" "02125" "PLA2G6_000070" "g.38516868T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120861T>C" "" "pathogenic" "" "0000194209" "0" "99" "22" "38516837" "38516837" "del" "0" "02125" "PLA2G6_000063" "g.38516837del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120830del" "" "pathogenic" "" "0000194210" "0" "99" "22" "38516809" "38516809" "subst" "1.21868E-5" "02125" "PLA2G6_000033" "g.38516809C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38120802C>T" "" "pathogenic" "" "0000194211" "0" "99" "22" "38512217" "38512217" "subst" "0" "02125" "PLA2G6_000026" "g.38512217C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116210C>A" "" "pathogenic" "" "0000194212" "0" "99" "22" "38512217" "38512217" "subst" "0" "02125" "PLA2G6_000026" "g.38512217C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116210C>A" "" "pathogenic" "" "0000194213" "0" "99" "22" "38512207" "38512207" "subst" "0" "02125" "PLA2G6_000034" "g.38512207G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116200G>A" "" "pathogenic" "" "0000194214" "0" "99" "22" "38512205" "38512205" "subst" "0" "02125" "PLA2G6_000068" "g.38512205C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116198C>T" "" "pathogenic" "" "0000194215" "0" "99" "22" "38512191" "38512191" "subst" "0" "02125" "PLA2G6_000031" "g.38512191G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116184G>T" "" "pathogenic" "" "0000194216" "0" "99" "22" "38512190" "38512190" "subst" "0" "02125" "PLA2G6_000052" "g.38512190G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116183G>A" "" "pathogenic" "" "0000194217" "0" "99" "22" "38512190" "38512190" "subst" "0" "02125" "PLA2G6_000058" "g.38512190G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116183G>A" "" "pathogenic" "" "0000194218" "3" "99" "22" "38512189" "38512189" "subst" "4.06279E-6" "02125" "PLA2G6_000016" "g.38512189C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116182C>T" "" "pathogenic" "" "0000194219" "0" "99" "22" "38512163" "38512163" "subst" "2.03183E-5" "02125" "PLA2G6_000077" "g.38512163G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38116156G>A" "" "pathogenic" "" "0000194220" "0" "99" "22" "38507502" "38511689" "" "0" "02125" "PLA2G6_000013" "g.(?_38507502)_(38511689_38512081)del" "" "" "" "PLA2G6IVS13_FLJ225821IVS2del" "fusion protein" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000194221" "0" "99" "22" "38511674" "38511674" "subst" "0" "02125" "PLA2G6_000006" "g.38511674G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115667G>A" "" "pathogenic" "" "0000194222" "0" "99" "22" "38511674" "38511674" "subst" "0" "02125" "PLA2G6_000006" "g.38511674G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115667G>A" "" "pathogenic" "" "0000194223" "0" "99" "22" "38511665" "38511665" "subst" "4.96912E-5" "02125" "PLA2G6_000042" "g.38511665G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115658G>A" "" "pathogenic" "" "0000194224" "0" "99" "22" "38511656" "38511656" "subst" "0" "02125" "PLA2G6_000020" "g.38511656C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115649C>T" "" "pathogenic" "" "0000194225" "0" "99" "22" "38511646" "38511646" "subst" "0" "02125" "PLA2G6_000066" "g.38511646G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115639G>C" "" "pathogenic" "" "0000194226" "0" "99" "22" "38511598" "38511598" "subst" "0" "02125" "PLA2G6_000051" "g.38511598G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115591G>A" "" "pathogenic" "" "0000194227" "0" "99" "22" "38511598" "38511598" "subst" "0" "02125" "PLA2G6_000057" "g.38511598G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115591G>A" "" "pathogenic" "" "0000194228" "0" "99" "22" "38511590" "38511590" "subst" "0" "02125" "PLA2G6_000072" "g.38511590G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38115583G>T" "" "pathogenic" "" "0000194229" "0" "99" "22" "38509569" "38509569" "del" "0" "02125" "PLA2G6_000067" "g.38509569del" "" "" "" "2138delC" "" "Germline" "" "" "0" "" "" "g.38113562del" "" "pathogenic" "" "0000194230" "0" "55" "22" "38509716" "38509716" "subst" "4.15279E-6" "02125" "PLA2G6_000081" "g.38509716C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38113709C>G" "" "VUS" "" "0000194231" "0" "99" "22" "38509626" "38509628" "del" "0" "02125" "PLA2G6_000007" "g.38509626_38509628del" "" "" "" "2070_2072delTGT" "" "Germline" "" "" "0" "" "" "g.38113619_38113621del" "" "pathogenic" "" "0000194232" "0" "99" "22" "38509564" "38509564" "subst" "0" "02125" "PLA2G6_000038" "g.38509564G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38113557G>A" "" "pathogenic" "" "0000194233" "0" "99" "22" "38522377" "38522377" "subst" "8.13001E-6" "02125" "PLA2G6_000060" "g.38522377C>T" "" "" "" "" "Abberant splicing\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38126370C>T" "" "pathogenic" "" "0000194234" "0" "99" "22" "38508510" "38508510" "subst" "0" "02125" "PLA2G6_000025" "g.38508510C>T" "" "" "" "" "Abberant splicing\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38112503C>T" "" "pathogenic" "" "0000194235" "0" "55" "22" "38508630" "38508630" "subst" "0.00239387" "02125" "PLA2G6_000082" "g.38508630G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112623G>A" "" "VUS" "" "0000194236" "0" "55" "22" "38508618" "38508618" "subst" "0.000801142" "02125" "PLA2G6_000083" "g.38508618C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112611C>G" "" "VUS" "" "0000194237" "0" "99" "22" "38508572" "38508572" "subst" "1.36255E-5" "02125" "PLA2G6_000009" "g.38508572C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112565C>G" "" "pathogenic" "" "0000194238" "0" "99" "22" "38508572" "38508572" "subst" "1.36255E-5" "02125" "PLA2G6_000009" "g.38508572C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112565C>G" "" "pathogenic" "" "0000194239" "0" "99" "22" "38508566" "38508566" "subst" "0" "02125" "PLA2G6_000021" "g.38508566G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112559G>A" "" "pathogenic" "" "0000194240" "0" "99" "22" "38508565" "38508565" "subst" "8.75975E-5" "02125" "PLA2G6_000061" "g.38508565C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112558C>T" "" "pathogenic" "" "0000194241" "0" "99" "22" "38508554" "38508554" "subst" "0" "02125" "PLA2G6_000027" "g.38508554G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112547G>A" "" "pathogenic" "" "0000194242" "0" "99" "22" "38508554" "38508554" "subst" "0" "02125" "PLA2G6_000027" "g.38508554G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112547G>A" "" "pathogenic" "" "0000194243" "0" "99" "22" "38508548" "38508548" "subst" "0" "02125" "PLA2G6_000062" "g.38508548G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112541G>A" "" "pathogenic" "" "0000194244" "0" "99" "22" "38508536" "38508536" "subst" "0" "02125" "PLA2G6_000004" "g.38508536C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112529C>T" "" "pathogenic" "" "0000194245" "0" "99" "22" "38508536" "38508536" "subst" "0" "02125" "PLA2G6_000047" "g.38508536C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112529C>A" "" "pathogenic" "" "0000194246" "0" "55" "22" "38508441" "38508441" "subst" "0" "02125" "PLA2G6_000084" "g.38508441G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112434G>A" "" "VUS" "" "0000194247" "0" "99" "22" "38508219" "38508219" "subst" "7.95578E-5" "02125" "PLA2G6_000010" "g.38508219A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38112212A>C" "" "pathogenic" "" "0000194248" "0" "99" "22" "38508218" "38508219" "del" "2.94155E-5" "02125" "PLA2G6_000002" "g.38508218_38508219del" "" "" "" "2370_2371delGT" "" "Germline" "" "" "0" "" "" "g.38112211_38112212del" "" "pathogenic" "" "0000244167" "3" "90" "22" "38509567" "38509567" "subst" "4.46766E-5" "00006" "PLA2G6_000100" "g.38509567C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_001199562: c.G1967A; p.R656H" "" "Germline" "" "" "0" "" "" "g.38113560C>T" "" "pathogenic" "" "0000244168" "3" "90" "22" "38516868" "38516868" "subst" "0" "00006" "PLA2G6_000070" "g.38516868T>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_001199562: c.A1478G; p.E493G" "" "Germline" "" "" "0" "" "" "g.38120861T>C" "" "pathogenic" "" "0000249597" "0" "70" "22" "38519194" "38519194" "subst" "0" "02325" "PLA2G6_000110" "g.38519194A>G" "" "" "" "PLA2G6(NM_003560.4):c.1499T>C (p.I500T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38123187A>G" "" "likely pathogenic" "" "0000255671" "0" "90" "22" "38508219" "38508219" "subst" "7.95578E-5" "01943" "PLA2G6_000010" "g.38508219A>C" "" "" "" "PLA2G6(NM_003560.2):c.2370T>G (p.Y790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112212A>C" "" "pathogenic" "" "0000256251" "0" "50" "22" "38525541" "38525541" "subst" "0" "01943" "PLA2G6_000118" "g.38525541A>C" "" "" "" "PLA2G6(NM_003560.2):c.1106T>G (p.L369R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38129534A>C" "" "VUS" "" "0000293867" "0" "10" "22" "38525561" "38525561" "subst" "0.0145961" "02330" "PLA2G6_000119" "g.38525561G>A" "" "" "" "PLA2G6(NM_001349867.2):c.552C>T (p.N184=), PLA2G6(NM_003560.2):c.1086C>T (p.N362=), PLA2G6(NM_003560.4):c.1086C>T (p.N362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38129554G>A" "" "benign" "" "0000293868" "0" "50" "22" "38522397" "38522397" "subst" "0.00050409" "02330" "PLA2G6_000111" "g.38522397T>C" "" "" "" "PLA2G6(NM_001349867.1):c.874A>G (p.M292V), PLA2G6(NM_003560.4):c.1408A>G (p.M470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38126390T>C" "" "VUS" "" "0000293869" "0" "50" "22" "38509628" "38509628" "subst" "0.000406151" "02330" "PLA2G6_000103" "g.38509628C>T" "" "" "" "PLA2G6(NM_003560.2):c.2068G>A (p.V690I), PLA2G6(NM_003560.4):c.2068G>A (p.V690I, p.(Val690Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38113621C>T" "" "VUS" "" "0000293870" "0" "10" "22" "38565209" "38565209" "subst" "0.0418543" "02330" "PLA2G6_000136" "g.38565209G>A" "" "" "" "PLA2G6(NM_001349867.2):c.-457+16C>T, PLA2G6(NM_003560.2):c.209+16C>T, PLA2G6(NM_003560.4):c.209+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169202G>A" "" "benign" "" "0000293871" "0" "50" "22" "38541500" "38541500" "subst" "0" "02330" "PLA2G6_000132" "g.38541500G>A" "" "" "" "PLA2G6(NM_003560.4):c.370C>T (p.H124Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38145493G>A" "" "VUS" "" "0000293872" "0" "10" "22" "38565347" "38565347" "subst" "0.0401751" "02330" "PLA2G6_000139" "g.38565347C>T" "" "" "" "PLA2G6(NM_003560.2):c.87G>A (p.V29=), PLA2G6(NM_003560.4):c.87G>A (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169340C>T" "" "benign" "" "0000297048" "0" "10" "22" "38528888" "38528888" "subst" "0.0108637" "02325" "PLA2G6_000122" "g.38528888C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1027G>A (p.(Ala343Thr)), PLA2G6(NM_001349867.2):c.493G>A (p.A165T), PLA2G6(NM_003560.2):c.1027G>A (p.A343T), PLA2G6(NM_00...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132881C>T" "" "benign" "" "0000297049" "0" "30" "22" "38525584" "38525584" "subst" "4.06326E-6" "02325" "PLA2G6_000120" "g.38525584G>C" "" "" "" "PLA2G6(NM_003560.4):c.1078-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38129577G>C" "" "likely benign" "" "0000297050" "0" "30" "22" "38524337" "38524337" "subst" "8.13352E-6" "02325" "PLA2G6_000113" "g.38524337C>T" "" "" "" "PLA2G6(NM_003560.4):c.1287G>A (p.A429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38128330C>T" "" "likely benign" "" "0000297051" "0" "30" "22" "38516840" "38516840" "subst" "0" "02325" "PLA2G6_000108" "g.38516840C>T" "" "" "" "PLA2G6(NM_003560.4):c.1668G>A (p.E556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38120833C>T" "" "likely benign" "" "0000297052" "0" "10" "22" "38512402" "38512402" "subst" "0" "02325" "PLA2G6_000107" "g.38512402G>A" "" "" "" "PLA2G6(NM_003560.4):c.1743-184C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116395G>A" "" "benign" "" "0000297053" "0" "70" "22" "38512181" "38512181" "subst" "0" "02325" "PLA2G6_000106" "g.38512181C>T" "" "" "" "PLA2G6(NM_003560.4):c.1780G>A (p.A594T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116174C>T" "" "likely pathogenic" "" "0000297054" "0" "10" "22" "38559448" "38559448" "subst" "0" "02325" "PLA2G6_000135" "g.38559448C>A" "" "" "" "PLA2G6(NM_003560.4):c.209+5777G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38163441C>A" "" "benign" "" "0000297055" "0" "10" "22" "38543453" "38543453" "subst" "0" "02325" "PLA2G6_000134" "g.38543453T>C" "" "" "" "PLA2G6(NM_003560.4):c.210-1793A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38147446T>C" "" "benign" "" "0000297056" "0" "70" "22" "38508580" "38508580" "subst" "0" "02325" "PLA2G6_000102" "g.38508580G>C" "" "" "" "PLA2G6(NM_003560.2):c.2207C>G (p.T736R), PLA2G6(NM_003560.4):c.2207C>G (p.T736R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112573G>C" "" "likely pathogenic" "" "0000297057" "0" "30" "22" "38541545" "38541545" "subst" "0.000579559" "02325" "PLA2G6_000133" "g.38541545G>C" "" "" "" "PLA2G6(NM_003560.4):c.325C>G (p.H109D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38145538G>C" "" "likely benign" "" "0000297058" "0" "50" "22" "38529014" "38529014" "subst" "8.43821E-5" "02325" "PLA2G6_000126" "g.38529014G>A" "" "" "" "PLA2G6(NM_003560.2):c.901C>T (p.R301C), PLA2G6(NM_003560.4):c.901C>T (p.(Arg301Cys), p.R301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38133007G>A" "" "VUS" "" "0000297059" "0" "30" "22" "38528943" "38528943" "subst" "0.00276547" "02325" "PLA2G6_000123" "g.38528943C>T" "" "" "" "PLA2G6(NM_001349867.1):c.438G>A (p.A146=), PLA2G6(NM_001349867.2):c.438G>A (p.A146=), PLA2G6(NM_003560.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132936C>T" "" "likely benign" "" "0000298881" "0" "30" "22" "38524383" "38524383" "subst" "0" "02329" "PLA2G6_000114" "g.38524383C>A" "" "" "" "PLA2G6(NM_003560.2):c.1241G>T (p.C414F), PLA2G6(NM_003560.4):c.1241G>T (p.C414F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38128376C>A" "" "likely benign" "" "0000298882" "0" "30" "22" "38524296" "38524296" "subst" "9.37329E-5" "02329" "PLA2G6_000112" "g.38524296G>A" "" "" "" "PLA2G6(NM_003560.4):c.1328C>T (p.P443L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38128289G>A" "" "likely benign" "" "0000298883" "0" "30" "22" "38565262" "38565262" "subst" "0.00352276" "02329" "PLA2G6_000138" "g.38565262C>T" "" "" "" "PLA2G6(NM_001349864.2):c.172G>A (p.V58I), PLA2G6(NM_003560.4):c.172G>A (p.V58I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169255C>T" "" "likely benign" "" "0000298884" "0" "30" "22" "38565209" "38565209" "subst" "0.0418543" "02329" "PLA2G6_000136" "g.38565209G>A" "" "" "" "PLA2G6(NM_001349867.2):c.-457+16C>T, PLA2G6(NM_003560.2):c.209+16C>T, PLA2G6(NM_003560.4):c.209+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169202G>A" "" "likely benign" "" "0000298885" "0" "30" "22" "38508249" "38508249" "subst" "0.00765914" "02329" "PLA2G6_000101" "g.38508249G>A" "" "" "" "PLA2G6(NM_003560.2):c.2340C>T (p.N780=), PLA2G6(NM_003560.4):c.2340C>T (p.N780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112242G>A" "" "likely benign" "" "0000298886" "0" "10" "22" "38565347" "38565347" "subst" "0.0401751" "02329" "PLA2G6_000139" "g.38565347C>T" "" "" "" "PLA2G6(NM_003560.2):c.87G>A (p.V29=), PLA2G6(NM_003560.4):c.87G>A (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169340C>T" "" "benign" "" "0000300938" "0" "90" "22" "38511665" "38511665" "subst" "4.96912E-5" "02326" "PLA2G6_000042" "g.38511665G>A" "" "" "" "PLA2G6(NM_003560.4):c.1903C>T (p.R635*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38115658G>A" "" "pathogenic" "" "0000300939" "0" "70" "22" "38508580" "38508580" "subst" "0" "02326" "PLA2G6_000102" "g.38508580G>C" "" "" "" "PLA2G6(NM_003560.2):c.2207C>G (p.T736R), PLA2G6(NM_003560.4):c.2207C>G (p.T736R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112573G>C" "" "likely pathogenic" "" "0000305802" "0" "30" "22" "38528888" "38528888" "subst" "0.0108637" "01943" "PLA2G6_000122" "g.38528888C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1027G>A (p.(Ala343Thr)), PLA2G6(NM_001349867.2):c.493G>A (p.A165T), PLA2G6(NM_003560.2):c.1027G>A (p.A343T), PLA2G6(NM_00...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132881C>T" "" "likely benign" "" "0000305803" "0" "30" "22" "38528856" "38528856" "subst" "0.000101308" "01943" "PLA2G6_000121" "g.38528856C>T" "" "" "" "PLA2G6(NM_003560.2):c.1059G>A (p.P353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132849C>T" "" "likely benign" "" "0000305804" "0" "10" "22" "38525561" "38525561" "subst" "0.0145961" "01943" "PLA2G6_000119" "g.38525561G>A" "" "" "" "PLA2G6(NM_001349867.2):c.552C>T (p.N184=), PLA2G6(NM_003560.2):c.1086C>T (p.N362=), PLA2G6(NM_003560.4):c.1086C>T (p.N362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38129554G>A" "" "benign" "" "0000305805" "0" "30" "22" "38525453" "38525453" "subst" "4.0622E-6" "01943" "PLA2G6_000116" "g.38525453G>C" "" "" "" "PLA2G6(NM_003560.2):c.1186+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38129446G>C" "" "likely benign" "" "0000305806" "0" "30" "22" "38524445" "38524445" "subst" "4.08143E-6" "01943" "PLA2G6_000115" "g.38524445T>C" "" "" "" "PLA2G6(NM_003560.2):c.1187-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38128438T>C" "" "likely benign" "" "0000305807" "0" "50" "22" "38522397" "38522397" "subst" "0.00050409" "01943" "PLA2G6_000111" "g.38522397T>C" "" "" "" "PLA2G6(NM_001349867.1):c.874A>G (p.M292V), PLA2G6(NM_003560.4):c.1408A>G (p.M470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38126390T>C" "" "VUS" "" "0000305808" "0" "30" "22" "38516894" "38516894" "subst" "0.00010161" "01943" "PLA2G6_000109" "g.38516894G>A" "" "" "" "PLA2G6(NM_003560.2):c.1614C>T (p.R538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38120887G>A" "" "likely benign" "" "0000305809" "0" "30" "22" "38512126" "38512126" "subst" "0.000203125" "01943" "PLA2G6_000105" "g.38512126C>A" "" "" "" "PLA2G6(NM_001004426.1):c.1673G>T (p.(Arg558Leu)), PLA2G6(NM_003560.2):c.1835G>T (p.R612L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116119C>A" "" "likely benign" "" "0000305810" "0" "30" "22" "38512074" "38512074" "subst" "2.844E-5" "01943" "PLA2G6_000104" "g.38512074G>C" "" "" "" "PLA2G6(NM_003560.2):c.1879+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116067G>C" "" "likely benign" "" "0000305811" "0" "30" "22" "38565247" "38565247" "subst" "0.00082718" "01943" "PLA2G6_000137" "g.38565247T>C" "" "" "" "PLA2G6(NM_003560.2):c.187A>G (p.R63G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169240T>C" "" "likely benign" "" "0000305812" "0" "10" "22" "38565209" "38565209" "subst" "0.0418543" "01943" "PLA2G6_000136" "g.38565209G>A" "" "" "" "PLA2G6(NM_001349867.2):c.-457+16C>T, PLA2G6(NM_003560.2):c.209+16C>T, PLA2G6(NM_003560.4):c.209+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169202G>A" "" "benign" "" "0000305813" "0" "70" "22" "38508565" "38508565" "subst" "8.75975E-5" "01943" "PLA2G6_000061" "g.38508565C>T" "" "" "" "PLA2G6(NM_003560.2):c.2222G>A (p.R741Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112558C>T" "" "likely pathogenic" "" "0000305814" "0" "10" "22" "38508249" "38508249" "subst" "0.00765914" "01943" "PLA2G6_000101" "g.38508249G>A" "" "" "" "PLA2G6(NM_003560.2):c.2340C>T (p.N780=), PLA2G6(NM_003560.4):c.2340C>T (p.N780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38112242G>A" "" "benign" "" "0000305815" "0" "10" "22" "38539226" "38539226" "subst" "0.000901545" "01943" "PLA2G6_000130" "g.38539226C>G" "" "" "" "PLA2G6(NM_003560.2):c.495G>C (p.G165=), PLA2G6(NM_003560.4):c.495G>C (p.G165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38143219C>G" "" "benign" "" "0000305816" "0" "30" "22" "38539157" "38539157" "subst" "0.000113695" "01943" "PLA2G6_000129" "g.38539157G>A" "" "" "" "PLA2G6(NM_003560.2):c.564C>T (p.T188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38143150G>A" "" "likely benign" "" "0000305817" "0" "30" "22" "38536076" "38536076" "subst" "0.000122084" "01943" "PLA2G6_000128" "g.38536076C>T" "" "" "" "PLA2G6(NM_003560.2):c.710G>A (p.R237H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38140069C>T" "" "likely benign" "" "0000305818" "0" "10" "22" "38565347" "38565347" "subst" "0.0401751" "01943" "PLA2G6_000139" "g.38565347C>T" "" "" "" "PLA2G6(NM_003560.2):c.87G>A (p.V29=), PLA2G6(NM_003560.4):c.87G>A (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38169340C>T" "" "benign" "" "0000305819" "0" "50" "22" "38528959" "38528959" "subst" "0" "01943" "PLA2G6_000125" "g.38528959G>A" "" "" "" "PLA2G6(NM_003560.2):c.956C>T (p.T319M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132952G>A" "" "VUS" "" "0000305820" "0" "30" "22" "38528949" "38528949" "subst" "0.00040577" "01943" "PLA2G6_000124" "g.38528949G>A" "" "" "" "PLA2G6(NM_003560.2):c.966C>T (p.H322=), PLA2G6(NM_003560.4):c.966C>T (p.H322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132942G>A" "" "likely benign" "" "0000305821" "0" "30" "22" "38528943" "38528943" "subst" "0.00276547" "01943" "PLA2G6_000123" "g.38528943C>T" "" "" "" "PLA2G6(NM_001349867.1):c.438G>A (p.A146=), PLA2G6(NM_001349867.2):c.438G>A (p.A146=), PLA2G6(NM_003560.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38132936C>T" "" "likely benign" "" "0000329011" "0" "50" "22" "38512126" "38512126" "subst" "0.000203125" "01804" "PLA2G6_000105" "g.38512126C>A" "" "" "" "PLA2G6(NM_001004426.1):c.1673G>T (p.(Arg558Leu)), PLA2G6(NM_003560.2):c.1835G>T (p.R612L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116119C>A" "" "VUS" "" "0000329015" "0" "90" "22" "38541484" "38541484" "subst" "4.14137E-5" "01804" "PLA2G6_000131" "g.38541484A>G" "" "" "" "PLA2G6(NM_001004426.1):c.386T>C (p.(Leu129Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38145477A>G" "" "pathogenic" "" "0000343146" "0" "50" "22" "38512190" "38512190" "subst" "0" "02327" "PLA2G6_000052" "g.38512190G>A" "" "" "" "PLA2G6(NM_003560.4):c.1771C>T (p.R591W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116183G>A" "" "VUS" "" "0000343172" "0" "50" "22" "38512126" "38512126" "subst" "0.000203125" "02327" "PLA2G6_000105" "g.38512126C>A" "" "" "" "PLA2G6(NM_001004426.1):c.1673G>T (p.(Arg558Leu)), PLA2G6(NM_003560.2):c.1835G>T (p.R612L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38116119C>A" "" "VUS" "" "0000343203" "0" "90" "22" "38511635" "38511635" "subst" "0" "02327" "PLA2G6_000140" "g.38511635G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38115628G>A" "" "pathogenic" "" "0000367858" "0" "90" "22" "38511605" "38511605" "subst" "0" "01807" "PLA2G6_000144" "g.38511605G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38115598G>T" "" "pathogenic" "" "0000395153" "0" "90" "22" "38536143" "38536143" "subst" "0" "01807" "PLA2G6_000146" "g.38536143G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38140136G>A" "" "pathogenic" "" "0000395154" "0" "50" "22" "38519132" "38519132" "subst" "0" "01807" "PLA2G6_000145" "g.38519132C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38123125C>T" "" "VUS" "" "0000572030" "0" "30" "22" "38508172" "38508172" "subst" "0.000833212" "01943" "BAIAP2L2_000005" "g.38508172G>C" "" "" "" "PLA2G6(NM_001349867.2):c.1883C>G (p.P628R), PLA2G6(NM_003560.2):c.2417C>G (p.P806R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112165G>C" "" "likely benign" "" "0000572031" "0" "30" "22" "38508211" "38508211" "subst" "8.57957E-6" "01943" "BAIAP2L2_000006" "g.38508211C>T" "" "" "" "PLA2G6(NM_003560.2):c.2378G>A (p.R793H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112204C>T" "" "likely benign" "" "0000572032" "0" "90" "22" "38508218" "38508219" "del" "2.94155E-5" "02327" "PLA2G6_000002" "g.38508218_38508219del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112211_38112212del" "" "pathogenic" "" "0000572033" "0" "10" "22" "38508249" "38508249" "subst" "0.00765914" "02330" "PLA2G6_000101" "g.38508249G>A" "" "" "" "PLA2G6(NM_003560.2):c.2340C>T (p.N780=), PLA2G6(NM_003560.4):c.2340C>T (p.N780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112242G>A" "" "benign" "" "0000572035" "0" "90" "22" "38508548" "38508548" "subst" "0" "01804" "PLA2G6_000062" "g.38508548G>A" "" "" "" "PLA2G6(NM_001004426.1):c.2077C>T (p.(Arg693Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112541G>A" "" "pathogenic" "" "0000572036" "0" "50" "22" "38508580" "38508580" "subst" "0" "01943" "PLA2G6_000102" "g.38508580G>C" "" "" "" "PLA2G6(NM_003560.2):c.2207C>G (p.T736R), PLA2G6(NM_003560.4):c.2207C>G (p.T736R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112573G>C" "" "VUS" "" "0000572037" "0" "50" "22" "38509534" "38509534" "subst" "1.21841E-5" "02327" "BAIAP2L2_000008" "g.38509534A>G" "" "" "" "PLA2G6(NM_003560.4):c.2162T>C (p.(Val721Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38113527A>G" "" "VUS" "" "0000572038" "0" "50" "22" "38509628" "38509628" "subst" "0.000406151" "01943" "PLA2G6_000103" "g.38509628C>T" "" "" "" "PLA2G6(NM_003560.2):c.2068G>A (p.V690I), PLA2G6(NM_003560.4):c.2068G>A (p.V690I, p.(Val690Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38113621C>T" "" "VUS" "" "0000572039" "0" "50" "22" "38509658" "38509658" "subst" "0" "02330" "BAIAP2L2_000009" "g.38509658G>C" "" "" "" "PLA2G6(NM_003560.4):c.2038C>G (p.Q680E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38113651G>C" "" "VUS" "" "0000572040" "0" "50" "22" "38512190" "38512190" "subst" "0" "02325" "PLA2G6_000052" "g.38512190G>A" "" "" "" "PLA2G6(NM_003560.4):c.1771C>T (p.R591W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38116183G>A" "" "VUS" "" "0000572041" "0" "90" "22" "38512190" "38512190" "subst" "0" "02326" "PLA2G6_000052" "g.38512190G>A" "" "" "" "PLA2G6(NM_003560.4):c.1771C>T (p.R591W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38116183G>A" "" "pathogenic" "" "0000572042" "0" "50" "22" "38516893" "38516893" "subst" "0.000698999" "02330" "PLA2G6_000080" "g.38516893C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1081G>A (p.G361S), PLA2G6(NM_003560.4):c.1615G>A (p.G539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38120886C>T" "" "VUS" "" "0000572043" "0" "30" "22" "38516893" "38516893" "subst" "0.000698999" "01943" "PLA2G6_000080" "g.38516893C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1081G>A (p.G361S), PLA2G6(NM_003560.4):c.1615G>A (p.G539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38120886C>T" "" "likely benign" "" "0000572044" "0" "30" "22" "38516893" "38516893" "subst" "0.000698999" "02325" "PLA2G6_000080" "g.38516893C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1081G>A (p.G361S), PLA2G6(NM_003560.4):c.1615G>A (p.G539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38120886C>T" "" "likely benign" "" "0000572045" "0" "50" "22" "38522379" "38522379" "subst" "1.62586E-5" "02330" "PLA2G6_000147" "g.38522379T>C" "" "" "" "PLA2G6(NM_003560.4):c.1426A>G (p.T476A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38126372T>C" "" "VUS" "" "0000572046" "0" "50" "22" "38522381" "38522381" "subst" "0.000219501" "02330" "PLA2G6_000148" "g.38522381C>T" "" "" "" "PLA2G6(NM_003560.4):c.1424G>A (p.R475Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38126374C>T" "" "VUS" "" "0000572047" "0" "50" "22" "38522397" "38522397" "subst" "0.00050409" "02325" "PLA2G6_000111" "g.38522397T>C" "" "" "" "PLA2G6(NM_001349867.1):c.874A>G (p.M292V), PLA2G6(NM_003560.4):c.1408A>G (p.M470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38126390T>C" "" "VUS" "" "0000572048" "0" "30" "22" "38522424" "38522424" "subst" "0.000138524" "01943" "PLA2G6_000149" "g.38522424G>A" "" "" "" "PLA2G6(NM_003560.2):c.1381C>T (p.R461W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38126417G>A" "" "likely benign" "" "0000572050" "0" "30" "22" "38524383" "38524383" "subst" "0" "01943" "PLA2G6_000114" "g.38524383C>A" "" "" "" "PLA2G6(NM_003560.2):c.1241G>T (p.C414F), PLA2G6(NM_003560.4):c.1241G>T (p.C414F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38128376C>A" "" "likely benign" "" "0000572051" "0" "30" "22" "38525560" "38525560" "subst" "8.12242E-6" "01943" "PLA2G6_000151" "g.38525560C>T" "" "" "" "PLA2G6(NM_003560.2):c.1087G>A (p.V363M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38129553C>T" "" "likely benign" "" "0000572052" "0" "10" "22" "38528888" "38528888" "subst" "0.0108637" "02330" "PLA2G6_000122" "g.38528888C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1027G>A (p.(Ala343Thr)), PLA2G6(NM_001349867.2):c.493G>A (p.A165T), PLA2G6(NM_003560.2):c.1027G>A (p.A343T), PLA2G6(NM_00...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132881C>T" "" "benign" "" "0000572053" "0" "30" "22" "38528888" "38528888" "subst" "0.0108637" "01804" "PLA2G6_000122" "g.38528888C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1027G>A (p.(Ala343Thr)), PLA2G6(NM_001349867.2):c.493G>A (p.A165T), PLA2G6(NM_003560.2):c.1027G>A (p.A343T), PLA2G6(NM_00...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132881C>T" "" "likely benign" "" "0000572054" "0" "30" "22" "38528888" "38528888" "subst" "0.0108637" "02329" "PLA2G6_000122" "g.38528888C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1027G>A (p.(Ala343Thr)), PLA2G6(NM_001349867.2):c.493G>A (p.A165T), PLA2G6(NM_003560.2):c.1027G>A (p.A343T), PLA2G6(NM_00...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132881C>T" "" "likely benign" "" "0000572055" "0" "30" "22" "38528925" "38528925" "subst" "0.00147614" "02330" "PLA2G6_000152" "g.38528925G>A" "" "" "" "PLA2G6(NM_003560.2):c.990C>T (p.F330=), PLA2G6(NM_003560.4):c.990C>T (p.F330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132918G>A" "" "likely benign" "" "0000572056" "0" "30" "22" "38528925" "38528925" "subst" "0.00147614" "01943" "PLA2G6_000152" "g.38528925G>A" "" "" "" "PLA2G6(NM_003560.2):c.990C>T (p.F330=), PLA2G6(NM_003560.4):c.990C>T (p.F330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132918G>A" "" "likely benign" "" "0000572057" "0" "50" "22" "38528933" "38528933" "subst" "0" "01943" "PLA2G6_000153" "g.38528933T>G" "" "" "" "PLA2G6(NM_003560.2):c.982A>C (p.N328H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132926T>G" "" "VUS" "" "0000572058" "0" "10" "22" "38528943" "38528943" "subst" "0.00276547" "02330" "PLA2G6_000123" "g.38528943C>T" "" "" "" "PLA2G6(NM_001349867.1):c.438G>A (p.A146=), PLA2G6(NM_001349867.2):c.438G>A (p.A146=), PLA2G6(NM_003560.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132936C>T" "" "benign" "" "0000572059" "0" "10" "22" "38528958" "38528958" "subst" "0.0132336" "02330" "PLA2G6_000154" "g.38528958C>T" "" "" "" "PLA2G6(NM_001349867.2):c.423G>A (p.T141=), PLA2G6(NM_003560.2):c.957G>A (p.T319=), PLA2G6(NM_003560.4):c.957G>A (p.T319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132951C>T" "" "benign" "" "0000572060" "0" "10" "22" "38528958" "38528958" "subst" "0.0132336" "01943" "PLA2G6_000154" "g.38528958C>T" "" "" "" "PLA2G6(NM_001349867.2):c.423G>A (p.T141=), PLA2G6(NM_003560.2):c.957G>A (p.T319=), PLA2G6(NM_003560.4):c.957G>A (p.T319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132951C>T" "" "benign" "" "0000572061" "0" "50" "22" "38528999" "38528999" "subst" "0" "02325" "PLA2G6_000155" "g.38528999G>A" "" "" "" "PLA2G6(NM_001349867.2):c.382C>T (p.R128W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132992G>A" "" "VUS" "" "0000572062" "0" "50" "22" "38529009" "38529009" "subst" "0" "01943" "PLA2G6_000156" "g.38529009C>T" "" "" "" "PLA2G6(NM_003560.2):c.906G>A (p.M302I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38133002C>T" "" "VUS" "" "0000572063" "0" "50" "22" "38529014" "38529014" "subst" "8.43821E-5" "01943" "PLA2G6_000126" "g.38529014G>A" "" "" "" "PLA2G6(NM_003560.2):c.901C>T (p.R301C), PLA2G6(NM_003560.4):c.901C>T (p.(Arg301Cys), p.R301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38133007G>A" "" "VUS" "" "0000572064" "0" "30" "22" "38536120" "38536120" "subst" "4.06355E-6" "02330" "PLA2G6_000157" "g.38536120G>C" "" "" "" "PLA2G6(NM_003560.4):c.666C>G (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38140113G>C" "" "likely benign" "" "0000572065" "0" "10" "22" "38539226" "38539226" "subst" "0.000901545" "02330" "PLA2G6_000130" "g.38539226C>G" "" "" "" "PLA2G6(NM_003560.2):c.495G>C (p.G165=), PLA2G6(NM_003560.4):c.495G>C (p.G165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38143219C>G" "" "benign" "" "0000572066" "0" "50" "22" "38541454" "38541454" "subst" "0.000601054" "02330" "PLA2G6_000158" "g.38541454C>T" "" "" "" "PLA2G6(NM_001349864.1):c.416G>A (p.R139H), PLA2G6(NM_003560.4):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38145447C>T" "" "VUS" "" "0000572067" "0" "50" "22" "38541475" "38541475" "subst" "4.58899E-5" "02327" "PLA2G6_000159" "g.38541475C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38145468C>T" "" "VUS" "" "0000572068" "0" "50" "22" "38541545" "38541545" "subst" "0.000579559" "02330" "PLA2G6_000133" "g.38541545G>C" "" "" "" "PLA2G6(NM_003560.4):c.325C>G (p.H109D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38145538G>C" "" "VUS" "" "0000572069" "0" "50" "22" "38541632" "38541632" "subst" "0" "02325" "PLA2G6_000160" "g.38541632C>A" "" "" "" "PLA2G6(NM_001349864.2):c.238G>T (p.A80S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38145625C>A" "" "VUS" "" "0000572070" "0" "50" "22" "38541632" "38541632" "subst" "8.19598E-6" "02327" "PLA2G6_000001" "g.38541632C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38145625C>T" "" "VUS" "" "0000618600" "0" "50" "22" "38509637" "38509637" "subst" "0" "01943" "BAIAP2L2_000011" "g.38509637G>C" "" "" "" "PLA2G6(NM_003560.2):c.2059C>G (p.L687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38113630G>C" "" "VUS" "" "0000618601" "0" "50" "22" "38511673" "38511673" "subst" "0" "02330" "BAIAP2L2_000012" "g.38511673C>T" "" "" "" "PLA2G6(NM_003560.4):c.1895G>A (p.R632Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38115666C>T" "" "VUS" "" "0000618602" "0" "30" "22" "38512112" "38512112" "subst" "4.8746E-5" "01943" "PLA2G6_000162" "g.38512112C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1315G>A (p.V439I), PLA2G6(NM_001349867.2):c.1315G>A (p.V439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38116105C>T" "" "likely benign" "" "0000618603" "0" "90" "22" "38512144" "38512144" "dup" "0" "02327" "PLA2G6_000163" "g.38512144dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38116137dup" "" "pathogenic" "" "0000624303" "0" "50" "22" "38508553" "38508553" "subst" "6.72531E-5" "02330" "BAIAP2L2_000010" "g.38508553C>T" "" "" "" "PLA2G6(NM_001349867.2):c.1700G>A (p.R567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112546C>T" "" "VUS" "" "0000624304" "0" "50" "22" "38516908" "38516908" "subst" "5.69351E-5" "02330" "PLA2G6_000164" "g.38516908T>C" "" "" "" "PLA2G6(NM_001349867.2):c.1066A>G (p.M356V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38120901T>C" "" "VUS" "" "0000624305" "0" "30" "22" "38524358" "38524358" "subst" "4.47413E-5" "02330" "PLA2G6_000165" "g.38524358G>A" "" "" "" "PLA2G6(NM_001349867.2):c.732C>T (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38128351G>A" "" "likely benign" "" "0000624306" "0" "10" "22" "38565262" "38565262" "subst" "0.00352276" "02330" "PLA2G6_000138" "g.38565262C>T" "" "" "" "PLA2G6(NM_001349864.2):c.172G>A (p.V58I), PLA2G6(NM_003560.4):c.172G>A (p.V58I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38169255C>T" "" "benign" "" "0000624307" "0" "50" "22" "38565277" "38565277" "subst" "1.2216E-5" "01943" "PLA2G6_000166" "g.38565277G>A" "" "" "" "PLA2G6(NM_001349864.1):c.157C>T (p.R53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38169270G>A" "" "VUS" "" "0000642742" "21" "90" "22" "38519140" "38519140" "subst" "0" "03582" "PLA2G6_000167" "g.38519140G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38123133G>A" "" "pathogenic (recessive)" "ACMG" "0000650977" "1" "70" "22" "38508193" "38508193" "subst" "0" "03575" "PLA2G6_000168" "g.38508193A>T" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784354}" "Germline" "" "rs587784354" "0" "" "" "g.38112186A>T" "" "likely pathogenic" "" "0000650978" "1" "90" "22" "38508554" "38508554" "subst" "0" "03575" "PLA2G6_000027" "g.38508554G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784350}" "Germline" "" "rs587784350" "0" "" "" "g.38112547G>A" "" "pathogenic" "" "0000650979" "1" "90" "22" "38508565" "38508565" "subst" "8.75975E-5" "03575" "PLA2G6_000061" "g.38508565C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs121908686}" "Germline" "" "rs121908686" "0" "" "" "g.38112558C>T" "" "pathogenic" "" "0000650980" "1" "50" "22" "38508572" "38508572" "subst" "1.36255E-5" "03575" "PLA2G6_000009" "g.38508572C>G" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs587784349}" "Germline" "" "rs587784349" "0" "" "" "g.38112565C>G" "" "VUS" "" "0000653271" "1" "90" "22" "38528924" "38528924" "subst" "4.43999E-5" "03575" "PLA2G6_000169" "g.38528924C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199935023}" "Germline" "" "rs199935023" "0" "" "" "g.38132917C>A" "" "pathogenic" "" "0000658951" "0" "30" "22" "38508210" "38508210" "subst" "0" "02330" "BAIAP2L2_000013" "g.38508210G>C" "" "" "" "PLA2G6(NM_001349867.2):c.1845C>G (p.R615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38112203G>C" "" "likely benign" "" "0000658952" "0" "90" "22" "38519251" "38519251" "subst" "0" "01943" "PLA2G6_000039" "g.38519251A>T" "" "" "" "PLA2G6(NM_001349867.1):c.908T>A (p.L303Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38123244A>T" "" "pathogenic" "" "0000658953" "0" "70" "22" "38525570" "38525570" "subst" "0" "01804" "PLA2G6_000170" "g.38525570C>T" "" "" "" "PLA2G6(NM_001004426.1):c.1078-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38129563C>T" "" "likely pathogenic" "" "0000658954" "0" "50" "22" "38528920" "38528920" "subst" "4.4471E-5" "02325" "PLA2G6_000171" "g.38528920C>G" "" "" "" "PLA2G6(NM_001349867.2):c.461G>C (p.C154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132913C>G" "" "VUS" "" "0000658955" "0" "50" "22" "38528924" "38528924" "subst" "3.17142E-5" "02325" "PLA2G6_000172" "g.38528924C>T" "" "" "" "PLA2G6(NM_001349867.2):c.457G>A (p.D153N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38132917C>T" "" "VUS" "" "0000658956" "0" "30" "22" "38531001" "38531001" "subst" "9.0355E-5" "01943" "PLA2G6_000173" "g.38531001G>A" "" "" "" "PLA2G6(NM_001349867.1):c.354C>T (p.N118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38134994G>A" "" "likely benign" "" "0000667421" "0" "50" "22" "38565343" "38565343" "subst" "0.000451109" "00006" "PLA2G6_000174" "g.38565343C>T" "" "{PMID:Seibler 2018:30169597}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38169336C>T" "" "VUS" "" "0000673895" "0" "50" "22" "38516811" "38516811" "subst" "0" "01164" "PLA2G6_000175" "g.38516811C>T" "" "" "" "" "ACMG grading: BP4,PM2\r\nno second varaint detected in PLA2G6, CNV analysis negative" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000681892" "0" "50" "22" "38516908" "38516908" "subst" "5.69351E-5" "02325" "PLA2G6_000164" "g.38516908T>C" "" "" "" "PLA2G6(NM_001349867.2):c.1066A>G (p.M356V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681893" "0" "50" "22" "38519120" "38519120" "subst" "7.36367E-5" "01943" "PLA2G6_000176" "g.38519120C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693193" "0" "50" "22" "38509592" "38509592" "subst" "2.43677E-5" "02330" "BAIAP2L2_000014" "g.38509592G>A" "" "" "" "PLA2G6(NM_001349867.2):c.1570C>T (p.P524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693194" "0" "30" "22" "38516783" "38516783" "subst" "0.000138159" "01943" "PLA2G6_000177" "g.38516783C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1191G>A (p.T397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693195" "0" "30" "22" "38528988" "38528988" "subst" "0" "01943" "PLA2G6_000178" "g.38528988G>A" "" "" "" "PLA2G6(NM_001349867.1):c.393C>T (p.N131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693196" "0" "50" "22" "38565282" "38565282" "subst" "0" "02330" "PLA2G6_000179" "g.38565282G>C" "" "" "" "PLA2G6(NM_001349864.2):c.152C>G (p.P51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728167" "0" "50" "22" "38508211" "38508211" "subst" "5.14774E-5" "01943" "BAIAP2L2_000015" "g.38508211C>A" "" "" "" "PLA2G6(NM_001349867.1):c.1844G>T (p.R615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728168" "0" "90" "22" "38522457" "38522457" "subst" "0" "02329" "PLA2G6_000150" "g.38522457C>T" "" "" "" "PLA2G6(NM_003560.4):c.1349-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728169" "0" "50" "22" "38528929" "38528929" "subst" "0" "01943" "PLA2G6_000180" "g.38528929C>T" "" "" "" "PLA2G6(NM_001349867.1):c.452G>A (p.R151H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728170" "0" "30" "22" "38565453" "38565453" "subst" "0.00161553" "02330" "PLA2G6_000181" "g.38565453G>T" "" "" "" "PLA2G6(NM_003560.4):c.-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732690" "3" "70" "22" "38522454" "38522454" "del" "4.09618E-6" "00000" "PLA2G6_000019" "g.38522454del" "" "{PMID:Soens 2017:28714225}" "" "NM_001004426.1:c.1189delC" "r.(=) effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.38126447del" "" "likely pathogenic" "" "0000736635" "21" "90" "22" "38509935" "38509935" "subst" "0" "04007" "PLA2G6_000182" "g.38509935C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.38113928C>T" "" "pathogenic (recessive)" "" "0000736636" "11" "90" "22" "38565325" "38565325" "subst" "3.66038E-5" "04007" "PLA2G6_000014" "g.38565325G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000763120" "3" "70" "22" "38525523" "38525523" "del" "0" "00006" "PLA2G6_000183" "g.38525523del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.38129516del" "" "likely pathogenic" "ACMG" "0000763270" "3" "70" "22" "38508536" "38508536" "subst" "0" "00006" "PLA2G6_000004" "g.38508536C>T" "" "{PMID:Anazi 2017:27431290}" "" "NM_001004426.1:c.2089G>A" "ACMG PM2, PP3.PP4, PP5" "Germline" "" "" "0" "" "" "g.38112529C>T" "" "likely pathogenic" "ACMG" "0000786984" "3" "90" "22" "38541662" "38541662" "subst" "0" "00006" "PLA2G6_000189" "g.38541662T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38145655T>C" "" "pathogenic" "" "0000786985" "3" "90" "22" "38528838" "38528838" "subst" "0" "00006" "PLA2G6_000099" "g.38528838C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38132831C>T" "" "pathogenic" "" "0000786986" "0" "90" "22" "38528838" "38528838" "subst" "0" "00006" "PLA2G6_000099" "g.38528838C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38132831C>T" "" "pathogenic" "" "0000786987" "3" "70" "22" "38511569" "38511569" "subst" "0" "00006" "PLA2G6_000184" "g.38511569C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38115562C>A" "" "likely pathogenic" "" "0000786988" "0" "70" "22" "38511586" "38511586" "subst" "8.164E-6" "00006" "PLA2G6_000185" "g.38511586G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38115579G>A" "" "likely pathogenic" "" "0000786989" "3" "70" "22" "38508565" "38508565" "subst" "8.75975E-5" "00006" "PLA2G6_000061" "g.38508565C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38112558C>T" "" "likely pathogenic" "" "0000787162" "1" "50" "22" "38512157" "38512157" "subst" "0" "00006" "PLA2G6_000186" "g.38512157A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.38116150A>G" "" "VUS" "" "0000787353" "3" "50" "22" "38525550" "38525550" "subst" "4.06098E-6" "00006" "PLA2G6_000188" "g.38525550A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs778225931" "0" "" "" "g.38129543A>T" "" "VUS" "" "0000787354" "3" "50" "22" "38519113" "38519113" "subst" "0" "00006" "PLA2G6_000187" "g.38519113G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1422865730" "0" "" "" "g.38123106G>T" "" "VUS" "" "0000787515" "0" "70" "22" "38508565" "38508565" "subst" "8.75975E-5" "00000" "PLA2G6_000061" "g.38508565C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.38112558C>T" "" "likely pathogenic" "" "0000787516" "0" "70" "22" "38508565" "38508565" "subst" "8.75975E-5" "00000" "PLA2G6_000061" "g.38508565C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.38112558C>T" "" "likely pathogenic" "" "0000787551" "2" "50" "22" "38511674" "38511674" "subst" "0" "00000" "PLA2G6_000006" "g.38511674G>A" "" "0" "" "" "" "Germline" "" "rs121908683" "0" "" "" "g.38115667G>A" "{CV-RCV:000006576.2}" "VUS" "" "0000795637" "3" "70" "22" "38508219" "38508219" "subst" "7.95578E-5" "00000" "PLA2G6_000010" "g.38508219A>C" "" "{PMID:Nair 2018:30293248}" "" "different transcript: NM_003560.2:c.2370T>G; p.Tyr790*" "" "Unknown" "?" "rs121908680" "0" "" "" "g.38112212A>C" "" "likely pathogenic" "" "0000809629" "0" "50" "22" "38519104" "38519104" "subst" "0" "01943" "PLA2G6_000190" "g.38519104T>C" "" "" "" "PLA2G6(NM_001349867.1):c.1055A>G (p.H352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809630" "0" "50" "22" "38524339" "38524339" "subst" "0" "01943" "PLA2G6_000191" "g.38524339C>T" "" "" "" "PLA2G6(NM_001349867.1):c.751G>A (p.A251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809631" "0" "50" "22" "38524381" "38524381" "subst" "1.62673E-5" "02330" "PLA2G6_000192" "g.38524381A>G" "" "" "" "PLA2G6(NM_001349867.2):c.709T>C (p.F237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809632" "0" "70" "22" "38536036" "38536036" "dup" "0" "01943" "PLA2G6_000142" "g.38536036dup" "" "" "" "PLA2G6(NM_001349867.1):c.219dupC (p.N74Qfs*130)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809633" "0" "50" "22" "38539273" "38539273" "subst" "5.30102E-5" "02330" "PLA2G6_000193" "g.38539273C>T" "" "" "" "PLA2G6(NM_001349864.2):c.448G>A (p.E150K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809634" "0" "30" "22" "38541468" "38541468" "subst" "0.000130609" "02330" "PLA2G6_000194" "g.38541468G>A" "" "" "" "PLA2G6(NM_001349864.2):c.402C>T (p.C134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000842402" "1" "90" "22" "38508539" "38508539" "subst" "0" "00006" "PLA2G6_000195" "g.38508539A>G" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.38112532A>G" "" "pathogenic (recessive)" "ACMG" "0000842403" "2" "90" "22" "38512175" "38512175" "subst" "0" "00006" "PLA2G6_000196" "g.38512175G>A" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.38116168G>A" "" "pathogenic (recessive)" "ACMG" "0000856170" "0" "30" "22" "38508172" "38508172" "subst" "0.000833212" "02330" "BAIAP2L2_000005" "g.38508172G>C" "" "" "" "PLA2G6(NM_001349867.2):c.1883C>G (p.P628R), PLA2G6(NM_003560.2):c.2417C>G (p.P806R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856171" "0" "10" "22" "38516754" "38516754" "subst" "0.00509448" "02330" "PLA2G6_000197" "g.38516754G>A" "" "" "" "PLA2G6(NM_001349867.2):c.1208+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856172" "0" "30" "22" "38541454" "38541454" "subst" "0.000601054" "01943" "PLA2G6_000158" "g.38541454C>T" "" "" "" "PLA2G6(NM_001349864.1):c.416G>A (p.R139H), PLA2G6(NM_003560.4):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856173" "0" "90" "22" "38565325" "38565325" "subst" "3.66038E-5" "02330" "PLA2G6_000014" "g.38565325G>A" "" "" "" "PLA2G6(NM_001349864.2):c.109C>T (p.R37*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866853" "0" "70" "22" "38508302" "38508302" "subst" "8.16887E-6" "02327" "BAIAP2L2_000016" "g.38508302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866854" "0" "50" "22" "38522430" "38522430" "subst" "5.70883E-5" "02330" "PLA2G6_000198" "g.38522430G>A" "" "" "" "PLA2G6(NM_001349867.2):c.841C>T (p.R281W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866855" "0" "70" "22" "38541484" "38541484" "subst" "4.14137E-5" "02327" "PLA2G6_000131" "g.38541484A>G" "" "" "" "PLA2G6(NM_001004426.1):c.386T>C (p.(Leu129Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866856" "0" "50" "22" "38565333" "38565333" "subst" "0.000341463" "02330" "PLA2G6_000199" "g.38565333G>A" "" "" "" "PLA2G6(NM_001349864.2):c.101C>T (p.S34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879978" "0" "50" "22" "38528956" "38528956" "subst" "0" "00006" "PLA2G6_000200" "g.38528956G>A" "" "{PMID:He 2022:35121647}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38132949G>A" "" "VUS" "ACMG" "0000895743" "0" "30" "22" "38511570" "38511570" "subst" "8.164E-6" "02330" "BAIAP2L2_000017" "g.38511570G>A" "" "" "" "PLA2G6(NM_001349867.2):c.1464C>T (p.T488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895744" "0" "30" "22" "38528949" "38528949" "subst" "0.00040577" "02330" "PLA2G6_000124" "g.38528949G>A" "" "" "" "PLA2G6(NM_003560.2):c.966C>T (p.H322=), PLA2G6(NM_003560.4):c.966C>T (p.H322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895745" "0" "30" "22" "38536117" "38536117" "subst" "1.62584E-5" "02330" "PLA2G6_000201" "g.38536117C>T" "" "" "" "PLA2G6(NM_001349867.2):c.135G>A (p.P45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895746" "0" "50" "22" "38565418" "38565418" "subst" "0.000130107" "02330" "PLA2G6_000202" "g.38565418G>A" "" "" "" "PLA2G6(NM_001349864.2):c.16C>T (p.R6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904825" "3" "70" "22" "38509626" "38509628" "del" "0" "00006" "PLA2G6_000007" "g.38509626_38509628del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs587784343" "0" "" "" "g.38113619_38113621del" "VCV000006198.8" "likely pathogenic (recessive)" "" "0000927176" "0" "50" "22" "38511595" "38511595" "subst" "2.45024E-5" "02330" "BAIAP2L2_000018" "g.38511595T>C" "" "" "" "PLA2G6(NM_003560.4):c.1973A>G (p.N658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927177" "0" "10" "22" "38525561" "38525561" "subst" "0.0145961" "02329" "PLA2G6_000119" "g.38525561G>A" "" "" "" "PLA2G6(NM_001349867.2):c.552C>T (p.N184=), PLA2G6(NM_003560.2):c.1086C>T (p.N362=), PLA2G6(NM_003560.4):c.1086C>T (p.N362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927178" "0" "10" "22" "38528958" "38528958" "subst" "0.0132336" "02329" "PLA2G6_000154" "g.38528958C>T" "" "" "" "PLA2G6(NM_001349867.2):c.423G>A (p.T141=), PLA2G6(NM_003560.2):c.957G>A (p.T319=), PLA2G6(NM_003560.4):c.957G>A (p.T319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931299" "0" "50" "22" "38508553" "38508553" "subst" "0" "02327" "BAIAP2L2_000019" "g.38508553C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951610" "0" "50" "22" "38512112" "38512112" "subst" "4.8746E-5" "02330" "PLA2G6_000162" "g.38512112C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1315G>A (p.V439I), PLA2G6(NM_001349867.2):c.1315G>A (p.V439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970489" "0" "30" "22" "38512112" "38512112" "subst" "4.8746E-5" "02327" "PLA2G6_000162" "g.38512112C>T" "" "" "" "PLA2G6(NM_001349867.1):c.1315G>A (p.V439I), PLA2G6(NM_001349867.2):c.1315G>A (p.V439I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970492" "0" "50" "22" "38565313" "38565313" "subst" "0" "02329" "PLA2G6_000203" "g.38565313C>G" "" "" "" "PLA2G6(NM_003560.4):c.121G>C (p.E41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984231" "0" "50" "22" "38509534" "38509534" "subst" "1.21841E-5" "01804" "BAIAP2L2_000008" "g.38509534A>G" "" "" "" "PLA2G6(NM_003560.4):c.2162T>C (p.(Val721Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984232" "0" "90" "22" "38509626" "38509628" "del" "0" "01804" "PLA2G6_000007" "g.38509626_38509628del" "" "" "" "PLA2G6(NM_003560.4):c.2070_2072del (p.(Val691del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984233" "0" "50" "22" "38509628" "38509628" "subst" "0.000406151" "01804" "PLA2G6_000103" "g.38509628C>T" "" "" "" "PLA2G6(NM_003560.2):c.2068G>A (p.V690I), PLA2G6(NM_003560.4):c.2068G>A (p.V690I, p.(Val690Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984234" "0" "50" "22" "38512127" "38512127" "subst" "0.000109689" "01804" "PLA2G6_000204" "g.38512127G>A" "" "" "" "PLA2G6(NM_003560.4):c.1834C>T (p.(Arg612Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984235" "0" "50" "22" "38525511" "38525511" "subst" "2.03032E-5" "01804" "PLA2G6_000205" "g.38525511G>A" "" "" "" "PLA2G6(NM_003560.4):c.1136C>T (p.(Pro379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984236" "0" "50" "22" "38529014" "38529014" "subst" "8.43821E-5" "01804" "PLA2G6_000126" "g.38529014G>A" "" "" "" "PLA2G6(NM_003560.2):c.901C>T (p.R301C), PLA2G6(NM_003560.4):c.901C>T (p.(Arg301Cys), p.R301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984237" "0" "30" "22" "38531101" "38531101" "subst" "0" "01804" "PLA2G6_000206" "g.38531101G>A" "" "" "" "PLA2G6(NM_003560.4):c.798-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984238" "0" "50" "22" "38539282" "38539282" "subst" "0.000118547" "01804" "PLA2G6_000037" "g.38539282C>T" "" "" "" "PLA2G6(NM_003560.4):c.439G>A (p.(Ala147Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984239" "0" "30" "22" "38544628" "38544628" "subst" "0" "01804" "PLA2G6_000207" "g.38544628C>T" "" "" "" "PLA2G6(NM_001349867.2):c.-454G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984240" "0" "50" "22" "38544629" "38544629" "subst" "0" "01804" "PLA2G6_000208" "g.38544629G>A" "" "" "" "PLA2G6(NM_001349867.2):c.-455C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007091" "21" "70" "22" "38516720" "38531103" "dup" "0" "04409" "PLA2G6_000209" "g.(?_38516720)_(38531103_?)dup" "" "{PMID:Xiao 2024:39300495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_38120713)_(38135096_?)dup" "" "likely pathogenic (recessive)" "ACMG" "0001007092" "11" "90" "22" "38565325" "38565325" "subst" "0" "04409" "PLA2G6_000014" "g.38565325C>T" "" "{PMID:Xiao 2024:39300495}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0001015945" "0" "70" "22" "38508580" "38508580" "subst" "0" "02327" "PLA2G6_000102" "g.38508580G>C" "" "" "" "PLA2G6(NM_003560.2):c.2207C>G (p.T736R), PLA2G6(NM_003560.4):c.2207C>G (p.T736R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015946" "0" "70" "22" "38511611" "38511611" "subst" "0" "02327" "BAIAP2L2_000025" "g.38511611C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015947" "0" "90" "22" "38525530" "38525530" "subst" "0" "02327" "PLA2G6_000117" "g.38525530C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043862" "0" "50" "22" "38509628" "38509628" "subst" "0.000406151" "02325" "PLA2G6_000103" "g.38509628C>T" "" "" "" "PLA2G6(NM_003560.2):c.2068G>A (p.V690I), PLA2G6(NM_003560.4):c.2068G>A (p.V690I, p.(Val690Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046821" "0" "50" "22" "38519243" "38519243" "subst" "6.14787E-6" "02325" "PLA2G6_000210" "g.38519243C>G" "" "" "" "PLA2G6(NM_003560.4):c.1450G>C (p.D484H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046822" "0" "90" "22" "38528894" "38528894" "subst" "1.29698E-5" "02325" "PLA2G6_000030" "g.38528894C>T" "" "" "" "PLA2G6(NM_003560.4):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLA2G6 ## Count = 296 "{{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}}" "0000006089" "00024274" "50" "1349" "-609" "1349" "-609" "c.1349-609A>G" "r.(=)" "p.(=)" "" "0000006090" "00024274" "50" "1349" "-755" "1349" "-755" "c.1349-755C>T" "r.(=)" "p.(=)" "" "0000006091" "00024274" "50" "1349" "-790" "1349" "-790" "c.1349-790G>C" "r.(=)" "p.(=)" "" "0000130010" "00024274" "90" "2370" "0" "2370" "0" "c.2370T>G" "r.(?)" "p.(Tyr790*)" "" "0000130011" "00024274" "90" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "" "0000130012" "00024274" "90" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "" "0000130013" "00024274" "90" "2370" "0" "2371" "0" "c.2370_2371del" "r.(?)" "p.(Tyr790*)" "" "0000130014" "00024274" "70" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700*)" "" "0000130018" "00024274" "90" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "" "0000130019" "00024274" "90" "1547" "0" "1548" "0" "c.1547_1548dup" "r.(?)" "p.(Gly517Argfs*29)" "" "0000165270" "00024274" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.1074_1077del" "p.Met358Ilefs*7" "" "0000194160" "00024274" "99" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "2" "0000194161" "00024274" "99" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(R37*)" "2" "0000194162" "00024274" "99" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(R39Q)" "2" "0000194163" "00024274" "99" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(R70*)" "2" "0000194164" "00024274" "99" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(A80T)" "3" "0000194165" "00024274" "99" "317" "0" "317" "0" "c.317del" "r.(?)" "p.(Val106AlafsTer5)" "3" "0000194166" "00024274" "99" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Leu107CysfsTer4)" "3" "0000194167" "00024274" "99" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(F135S)" "3" "0000194168" "00024274" "99" "426" "-1" "1077" "1" "c.(425+1_426-1)_(1077+1_1078-1)dup" "r.(426_1077dup)" "p.(Lys360Leufs*22)" "3i_7i" "0000194169" "00024274" "99" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(A147T)" "4" "0000194170" "00024274" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(H157Y)" "4" "0000194171" "00024274" "99" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(H157R)" "4" "0000194172" "00024274" "99" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(H157R)" "4" "0000194173" "00024274" "99" "610" "-1" "894" "1" "c.(609+1_610-1)_(894+1_895-1)del" "r.(del)" "p.(L204_E298del98)" "4i_6i" "0000194174" "00024274" "99" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(T222I)" "5" "0000194175" "00024274" "99" "668" "0" "668" "0" "c.668C>A" "r.(?)" "p.(P223Q)" "5" "0000194176" "00024274" "99" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(L240P)" "5" "0000194177" "00024274" "99" "751" "0" "759" "0" "c.751_759del" "r.(?)" "p.(Pro251_Gly253del)" "5" "0000194178" "00024274" "99" "755" "0" "755" "0" "c.755del" "r.(?)" "p.(Asn252ThrfsTer9)" "5" "0000194179" "00024274" "99" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(D283G)" "6" "0000194180" "00024274" "55" "894" "46" "894" "46" "c.894+46del" "r.(=)" "p.(=)" "6" "0000194181" "00024274" "99" "905" "0" "905" "0" "c.905T>G" "r.(?)" "p.(M302R)" "7" "0000194182" "00024274" "99" "929" "0" "929" "0" "c.929T>A" "r.(?)" "p.(V310E)" "7" "0000194183" "00024274" "99" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(G340R)" "7" "0000194184" "00024274" "99" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(A341T)" "7" "0000194185" "00024274" "99" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(G347R)" "7" "0000194186" "00024274" "99" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(P353L)" "7" "0000194187" "00024274" "99" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(L354P)" "7" "0000194188" "00024274" "99" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(L354P)" "7" "0000194189" "00024274" "99" "1103" "0" "1103" "0" "c.1103C>A" "r.(?)" "p.(A368D)" "8" "0000194190" "00024274" "99" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(V371M)" "8" "0000194191" "00024274" "99" "1117" "0" "1117" "0" "c.1117A>G" "r.(?)" "p.(G373R)" "8" "0000194192" "00024274" "55" "1187" "-93" "1187" "-92" "c.1187-93_1187-92del" "r.(?)" "p.(=)" "8i" "0000194193" "00024274" "99" "1351" "0" "1351" "0" "c.1351del" "r.(?)" "p.(Leu451TyrfsTer20)" "10" "0000194194" "00024274" "99" "1417" "0" "1417" "0" "c.1417G>T" "r.(?)" "p.(E473*)" "10" "0000194195" "00024274" "99" "1442" "0" "1442" "0" "c.1442T>A" "r.(?)" "p.(L481Q)" "11" "0000194196" "00024274" "99" "1463" "0" "1463" "0" "c.1463T>G" "r.(?)" "p.(V488G)" "11" "0000194197" "00024274" "99" "1472" "0" "1472" "0" "c.1472T>G" "r.(?)" "p.(L491R)" "11" "0000194198" "00024274" "99" "1501" "0" "1501" "0" "c.1501G>C" "r.(?)" "p.(E501Q)" "11" "0000194199" "00024274" "99" "1506" "0" "1506" "0" "c.1506G>C" "r.(?)" "p.(K502N)" "11" "0000194200" "00024274" "99" "1524" "0" "1524" "0" "c.1524dup" "r.(?)" "p.(Lys509GlnfsTer5)" "11" "0000194201" "00024274" "99" "1538" "0" "1541" "0" "c.1538_1541del" "r.(?)" "p.(Asp513GlyfsTer31)" "11" "0000194202" "00024274" "99" "1549" "0" "1549" "0" "c.1549G>T" "r.(?)" "p.(G517C)" "11" "0000194203" "00024274" "99" "1612" "0" "1612" "0" "c.1612C>A" "r.(?)" "p.(R538S)" "12" "0000194204" "00024274" "99" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(R538C)" "12" "0000194205" "00024274" "55" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "12" "0000194206" "00024274" "99" "1633" "0" "1633" "0" "c.1633A>G" "r.(?)" "p.(K545E)" "12" "0000194207" "00024274" "99" "1634" "0" "1634" "0" "c.1634A>C" "r.(?)" "p.(K545T)" "12" "0000194208" "00024274" "99" "1640" "0" "1640" "0" "c.1640A>G" "r.(?)" "p.(E547G)" "12" "0000194209" "00024274" "99" "1674" "0" "1674" "0" "c.1674del" "r.(?)" "p.(Leu560TrpfsTer5)" "12" "0000194210" "00024274" "99" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(E567K)" "12" "0000194211" "00024274" "99" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(V582L)" "13" "0000194212" "00024274" "99" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(V582L)" "13" "0000194213" "00024274" "99" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(T585I)" "13" "0000194214" "00024274" "99" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(G586R)" "13" "0000194215" "00024274" "99" "1770" "0" "1770" "0" "c.1770C>A" "r.(?)" "p.(D590E)" "13" "0000194216" "00024274" "99" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(R591W)" "13" "0000194217" "00024274" "99" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(R591W)" "13" "0000194218" "00024274" "99" "1772" "0" "1772" "0" "c.1772G>A" "r.(?)" "p.(R591Q)" "13" "0000194219" "00024274" "99" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(R600W)" "13" "0000194220" "00024274" "99" "1880" "-1" "3087" "0" "c.(1879+1_1880-1)_(*666_?)del" "r.?" "p.?" "13i_17_" "0000194221" "00024274" "99" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(R632W)" "14" "0000194222" "00024274" "99" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(R632W)" "14" "0000194223" "00024274" "99" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(R635*)" "14" "0000194224" "00024274" "99" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(G638R)" "14" "0000194225" "00024274" "99" "1922" "0" "1922" "0" "c.1922C>G" "r.(?)" "p.(P641R)" "14" "0000194226" "00024274" "99" "1970" "0" "1970" "0" "c.1970C>T" "r.(?)" "p.(A657V)" "14" "0000194227" "00024274" "99" "1970" "0" "1970" "0" "c.1970C>T" "r.(?)" "p.(A657V)" "14" "0000194228" "00024274" "99" "1978" "0" "1978" "0" "c.1978C>A" "r.(?)" "p.(P660T)" "14" "0000194229" "00024274" "99" "2128" "0" "2128" "0" "c.2128del" "r.(?)" "p.(Arg710Valfs*51)" "15" "0000194230" "00024274" "55" "2035" "-55" "2035" "-55" "c.2035-55G>C" "r.(?)" "p.(?)" "15" "0000194231" "00024274" "99" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "15" "0000194232" "00024274" "99" "2132" "0" "2132" "0" "c.2132C>T" "r.(?)" "p.(P711L)" "15" "0000194233" "00024274" "99" "1427" "1" "1427" "1" "c.IVS10+1G>A" "r.(?)" "p.?" "16" "0000194234" "00024274" "99" "2276" "1" "2276" "1" "c.IVS16+1G>A" "r.(?)" "p.?" "16" "0000194235" "00024274" "55" "2203" "-46" "2203" "-46" "c.2203-46C>T" "r.(?)" "p.(=)" "16" "0000194236" "00024274" "55" "2203" "-34" "2203" "-34" "c.2203-34G>C" "r.(?)" "p.(=)" "16" "0000194237" "00024274" "99" "2215" "0" "2215" "0" "c.2215G>C" "r.(?)" "p.(D739H)" "16" "0000194238" "00024274" "99" "2215" "0" "2215" "0" "c.2215G>C" "r.(?)" "p.(D739H)" "16" "0000194239" "00024274" "99" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(R741W)" "16" "0000194240" "00024274" "99" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(R741Q)" "16" "0000194241" "00024274" "99" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(R745W)" "16" "0000194242" "00024274" "99" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(R745W)" "16" "0000194243" "00024274" "99" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(R747W)" "16" "0000194244" "00024274" "99" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(E751K)" "16" "0000194245" "00024274" "99" "2251" "0" "2251" "0" "c.2251G>T" "r.(?)" "p.(E751*)" "16" "0000194246" "00024274" "55" "2276" "70" "2276" "70" "c.2276+70C>T" "r.(?)" "p.(=)" "16" "0000194247" "00024274" "99" "2370" "0" "2370" "0" "c.2370T>G" "r.(?)" "p.(Y790*)" "17" "0000194248" "00024274" "99" "2370" "0" "2371" "0" "c.2370_2371del" "r.(?)" "p.(Tyr790*)" "17" "0000244167" "00024274" "90" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710His)" "15" "0000244168" "00024274" "90" "1640" "0" "1640" "0" "c.1640A>G" "r.(?)" "p.(Glu547Gly)" "12" "0000249597" "00024274" "70" "1499" "0" "1499" "0" "c.1499T>C" "r.(?)" "p.(Ile500Thr)" "" "0000255671" "00024274" "90" "2370" "0" "2370" "0" "c.2370T>G" "r.(?)" "p.(Tyr790Ter)" "" "0000256251" "00024274" "50" "1106" "0" "1106" "0" "c.1106T>G" "r.(?)" "p.(Leu369Arg)" "" "0000293867" "00024274" "10" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Asn362=)" "" "0000293868" "00024274" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "" "0000293869" "00024274" "50" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Val690Ile)" "" "0000293870" "00024274" "10" "209" "16" "209" "16" "c.209+16C>T" "r.(=)" "p.(=)" "" "0000293871" "00024274" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(His124Tyr)" "" "0000293872" "00024274" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Val29=)" "" "0000297048" "00024274" "10" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Ala343Thr)" "" "0000297049" "00024274" "30" "1078" "-15" "1078" "-15" "c.1078-15C>G" "r.(=)" "p.(=)" "" "0000297050" "00024274" "30" "1287" "0" "1287" "0" "c.1287G>A" "r.(?)" "p.(Ala429=)" "" "0000297051" "00024274" "30" "1668" "0" "1668" "0" "c.1668G>A" "r.(?)" "p.(Glu556=)" "" "0000297052" "00024274" "10" "1743" "-184" "1743" "-184" "c.1743-184C>T" "r.(=)" "p.(=)" "" "0000297053" "00024274" "70" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Ala594Thr)" "" "0000297054" "00024274" "10" "209" "5777" "209" "5777" "c.209+5777G>T" "r.(=)" "p.(=)" "" "0000297055" "00024274" "10" "210" "-1793" "210" "-1793" "c.210-1793A>G" "r.(=)" "p.(=)" "" "0000297056" "00024274" "70" "2207" "0" "2207" "0" "c.2207C>G" "r.(?)" "p.(Thr736Arg)" "" "0000297057" "00024274" "30" "325" "0" "325" "0" "c.325C>G" "r.(?)" "p.(His109Asp)" "" "0000297058" "00024274" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Cys)" "" "0000297059" "00024274" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "0000298881" "00024274" "30" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(Cys414Phe)" "" "0000298882" "00024274" "30" "1328" "0" "1328" "0" "c.1328C>T" "r.(?)" "p.(Pro443Leu)" "" "0000298883" "00024274" "30" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Val58Ile)" "" "0000298884" "00024274" "30" "209" "16" "209" "16" "c.209+16C>T" "r.(=)" "p.(=)" "" "0000298885" "00024274" "30" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Asn780=)" "" "0000298886" "00024274" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Val29=)" "" "0000300938" "00024274" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Arg635Ter)" "" "0000300939" "00024274" "70" "2207" "0" "2207" "0" "c.2207C>G" "r.(?)" "p.(Thr736Arg)" "" "0000305802" "00024274" "30" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Ala343Thr)" "" "0000305803" "00024274" "30" "1059" "0" "1059" "0" "c.1059G>A" "r.(?)" "p.(Pro353=)" "" "0000305804" "00024274" "10" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Asn362=)" "" "0000305805" "00024274" "30" "1186" "8" "1186" "8" "c.1186+8C>G" "r.(=)" "p.(=)" "" "0000305806" "00024274" "30" "1187" "-8" "1187" "-8" "c.1187-8A>G" "r.(=)" "p.(=)" "" "0000305807" "00024274" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "" "0000305808" "00024274" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Arg538=)" "" "0000305809" "00024274" "30" "1835" "0" "1835" "0" "c.1835G>T" "r.(?)" "p.(Arg612Leu)" "" "0000305810" "00024274" "30" "1879" "8" "1879" "8" "c.1879+8C>G" "r.(=)" "p.(=)" "" "0000305811" "00024274" "30" "187" "0" "187" "0" "c.187A>G" "r.(?)" "p.(Arg63Gly)" "" "0000305812" "00024274" "10" "209" "16" "209" "16" "c.209+16C>T" "r.(=)" "p.(=)" "" "0000305813" "00024274" "70" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "" "0000305814" "00024274" "10" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Asn780=)" "" "0000305815" "00024274" "10" "495" "0" "495" "0" "c.495G>C" "r.(?)" "p.(Gly165=)" "" "0000305816" "00024274" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Thr188=)" "" "0000305817" "00024274" "30" "710" "0" "710" "0" "c.710G>A" "r.(?)" "p.(Arg237His)" "" "0000305818" "00024274" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Val29=)" "" "0000305819" "00024274" "50" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Thr319Met)" "" "0000305820" "00024274" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000305821" "00024274" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "0000329011" "00024274" "50" "1835" "0" "1835" "0" "c.1835G>T" "r.(?)" "p.(Arg612Leu)" "" "0000329015" "00024274" "90" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Pro)" "" "0000343146" "00024274" "50" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Trp)" "" "0000343172" "00024274" "50" "1835" "0" "1835" "0" "c.1835G>T" "r.(?)" "p.(Arg612Leu)" "" "0000343203" "00024274" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Ter)" "" "0000367858" "00024274" "90" "1963" "0" "1963" "0" "c.1963C>A" "r.(?)" "p.(Leu655Met)" "14" "0000395153" "00024274" "90" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Gln215*)" "" "0000395154" "00024274" "50" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Gly521Arg)" "" "0000572030" "00024274" "30" "2417" "0" "2417" "0" "c.2417C>G" "r.(?)" "p.(Pro806Arg)" "" "0000572031" "00024274" "30" "2378" "0" "2378" "0" "c.2378G>A" "r.(?)" "p.(Arg793His)" "" "0000572032" "00024274" "90" "2370" "0" "2371" "0" "c.2370_2371del" "r.(?)" "p.(Tyr790Ter)" "" "0000572033" "00024274" "10" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Asn780=)" "" "0000572035" "00024274" "90" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Trp)" "" "0000572036" "00024274" "50" "2207" "0" "2207" "0" "c.2207C>G" "r.(?)" "p.(Thr736Arg)" "" "0000572037" "00024274" "50" "2162" "0" "2162" "0" "c.2162T>C" "r.(?)" "p.(Val721Ala)" "" "0000572038" "00024274" "50" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Val690Ile)" "" "0000572039" "00024274" "50" "2038" "0" "2038" "0" "c.2038C>G" "r.(?)" "p.(Gln680Glu)" "" "0000572040" "00024274" "50" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Trp)" "" "0000572041" "00024274" "90" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Trp)" "" "0000572042" "00024274" "50" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "" "0000572043" "00024274" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "" "0000572044" "00024274" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Ser)" "" "0000572045" "00024274" "50" "1426" "0" "1426" "0" "c.1426A>G" "r.(?)" "p.(Thr476Ala)" "" "0000572046" "00024274" "50" "1424" "0" "1424" "0" "c.1424G>A" "r.(?)" "p.(Arg475Gln)" "" "0000572047" "00024274" "50" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "" "0000572048" "00024274" "30" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "" "0000572050" "00024274" "30" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(Cys414Phe)" "" "0000572051" "00024274" "30" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Val363Met)" "" "0000572052" "00024274" "10" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Ala343Thr)" "" "0000572053" "00024274" "30" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Ala343Thr)" "" "0000572054" "00024274" "30" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Ala343Thr)" "" "0000572055" "00024274" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Phe330=)" "" "0000572056" "00024274" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Phe330=)" "" "0000572057" "00024274" "50" "982" "0" "982" "0" "c.982A>C" "r.(?)" "p.(Asn328His)" "" "0000572058" "00024274" "10" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "0000572059" "00024274" "10" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.(Thr319=)" "" "0000572060" "00024274" "10" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.(Thr319=)" "" "0000572061" "00024274" "50" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Trp)" "" "0000572062" "00024274" "50" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Met302Ile)" "" "0000572063" "00024274" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Cys)" "" "0000572064" "00024274" "30" "666" "0" "666" "0" "c.666C>G" "r.(?)" "p.(Thr222=)" "" "0000572065" "00024274" "10" "495" "0" "495" "0" "c.495G>C" "r.(?)" "p.(Gly165=)" "" "0000572066" "00024274" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000572067" "00024274" "50" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132His)" "" "0000572068" "00024274" "50" "325" "0" "325" "0" "c.325C>G" "r.(?)" "p.(His109Asp)" "" "0000572069" "00024274" "50" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Ala80Ser)" "" "0000572070" "00024274" "50" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "0000618600" "00024274" "50" "2059" "0" "2059" "0" "c.2059C>G" "r.(?)" "p.(Leu687Val)" "" "0000618601" "00024274" "50" "1895" "0" "1895" "0" "c.1895G>A" "r.(?)" "p.(Arg632Gln)" "" "0000618602" "00024274" "30" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "" "0000618603" "00024274" "90" "1819" "0" "1819" "0" "c.1819dup" "r.(?)" "p.(Thr607AsnfsTer12)" "" "0000624303" "00024274" "50" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Arg745Gln)" "" "0000624304" "00024274" "50" "1600" "0" "1600" "0" "c.1600A>G" "r.(?)" "p.(Met534Val)" "" "0000624305" "00024274" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Pro422=)" "" "0000624306" "00024274" "10" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Val58Ile)" "" "0000624307" "00024274" "50" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" "" "0000642742" "00024274" "90" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Thr518Ile)" "11" "0000650977" "00024274" "70" "2396" "0" "2396" "0" "c.2396T>A" "r.(?)" "p.(Leu799His)" "" "0000650978" "00024274" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Arg745Trp)" "" "0000650979" "00024274" "90" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "" "0000650980" "00024274" "50" "2215" "0" "2215" "0" "c.2215G>C" "r.(?)" "p.(Asp739His)" "" "0000653271" "00024274" "90" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Asp331Tyr)" "" "0000658951" "00024274" "30" "2379" "0" "2379" "0" "c.2379C>G" "r.(?)" "p.(Arg793=)" "" "0000658952" "00024274" "90" "1442" "0" "1442" "0" "c.1442T>A" "r.(?)" "p.(Leu481Gln)" "" "0000658953" "00024274" "70" "1078" "-1" "1078" "-1" "c.1078-1G>A" "r.spl?" "p.?" "" "0000658954" "00024274" "50" "995" "0" "995" "0" "c.995G>C" "r.(?)" "p.(Cys332Ser)" "" "0000658955" "00024274" "50" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "" "0000658956" "00024274" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Asn296=)" "" "0000667421" "00024274" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Asp31Asn)" "" "0000673895" "00024274" "50" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Arg566Gln)" "" "0000681892" "00024274" "50" "1600" "0" "1600" "0" "c.1600A>G" "r.(?)" "p.(Met534Val)" "" "0000681893" "00024274" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Ala525Thr)" "" "0000693193" "00024274" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Pro702Ser)" "" "0000693194" "00024274" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Thr575=)" "" "0000693195" "00024274" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Asn309=)" "" "0000693196" "00024274" "50" "152" "0" "152" "0" "c.152C>G" "r.(?)" "p.(Pro51Arg)" "" "0000728167" "00024274" "50" "2378" "0" "2378" "0" "c.2378G>T" "r.(?)" "p.(Arg793Leu)" "" "0000728168" "00024274" "90" "1349" "-1" "1349" "-1" "c.1349-1G>A" "r.spl?" "p.?" "" "0000728169" "00024274" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000728170" "00024274" "30" "-20" "0" "-20" "0" "c.-20C>A" "r.(?)" "p.(=)" "" "0000732690" "00024274" "70" "1351" "0" "1351" "0" "c.1351del" "r.(?)" "p.(Leu451Tyrfs*20)" "" "0000736635" "00024274" "90" "2035" "-274" "2035" "-274" "c.2035-274G>A" "r.2034_2035ins2035-395_2035-280" "p.Gly679Thrfs*810" "14i" "0000736636" "00024274" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "2" "0000763120" "00024274" "70" "1125" "0" "1125" "0" "c.1125del" "r.(?)" "p.(Val376Trpfs*14)" "" "0000763270" "00024274" "70" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Glu751Lys)" "" "0000786984" "00024274" "90" "210" "-2" "210" "-2" "c.210-2A>G" "r.spl" "p.?" "2i" "0000786985" "00024274" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.spl" "p.?" "7" "0000786986" "00024274" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.spl" "p.?" "7" "0000786987" "00024274" "70" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Glu667Ter)" "14" "0000786988" "00024274" "70" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Thr661Met)" "14" "0000786989" "00024274" "70" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "16" "0000787162" "00024274" "50" "1804" "0" "1804" "0" "c.1804T>C" "r.(?)" "p.(Tyr602His)" "13" "0000787353" "00024274" "50" "1097" "0" "1097" "0" "c.1097T>A" "r.(?)" "p.(Ile366Asn)" "8" "0000787354" "00024274" "50" "1580" "0" "1580" "0" "c.1580C>A" "r.(?)" "p.(Ala527Asp)" "11" "0000787515" "00024274" "70" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "16" "0000787516" "00024274" "70" "2222" "0" "2222" "0" "c.2222G>A" "r.(?)" "p.(Arg741Gln)" "16" "0000787551" "00024274" "50" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632Trp)" "14" "0000795637" "00024274" "70" "2370" "0" "2370" "0" "c.2370T>G" "r.(?)" "p.(Tyr790*)" "" "0000809629" "00024274" "50" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(His530Arg)" "" "0000809630" "00024274" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Ala429Thr)" "" "0000809631" "00024274" "50" "1243" "0" "1243" "0" "c.1243T>C" "r.(?)" "p.(Phe415Leu)" "" "0000809632" "00024274" "70" "753" "0" "753" "0" "c.753dup" "r.(?)" "p.(Asn252GlnfsTer130)" "" "0000809633" "00024274" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000809634" "00024274" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Cys134=)" "" "0000842402" "00024274" "90" "2248" "0" "2248" "0" "c.2248T>C" "r.(?)" "p.(Cys750Arg)" "" "0000842403" "00024274" "90" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Leu596Phe)" "" "0000856170" "00024274" "30" "2417" "0" "2417" "0" "c.2417C>G" "r.(?)" "p.(Pro806Arg)" "" "0000856171" "00024274" "10" "1742" "12" "1742" "12" "c.1742+12C>T" "r.(=)" "p.(=)" "" "0000856172" "00024274" "30" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000856173" "00024274" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000866853" "00024274" "70" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Gln763*)" "" "0000866854" "00024274" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000866855" "00024274" "70" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Leu129Pro)" "" "0000866856" "00024274" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ser34Leu)" "" "0000879978" "00024274" "50" "959" "0" "959" "0" "c.959C>T" "r.959c>u" "p.Ala320Val" "" "0000895743" "00024274" "30" "1998" "0" "1998" "0" "c.1998C>T" "r.(?)" "p.(Thr666=)" "" "0000895744" "00024274" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(His322=)" "" "0000895745" "00024274" "30" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Pro223=)" "" "0000895746" "00024274" "50" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Cys)" "" "0000904825" "00024274" "70" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "" "0000927176" "00024274" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000927177" "00024274" "10" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Asn362=)" "" "0000927178" "00024274" "10" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.(Thr319=)" "" "0000931299" "00024274" "50" "2234" "0" "2234" "0" "c.2234G>C" "r.(?)" "p.(Arg745Pro)" "" "0000951610" "00024274" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "" "0000970489" "00024274" "30" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Val617Ile)" "" "0000970492" "00024274" "50" "121" "0" "121" "0" "c.121G>C" "r.(?)" "p.(Glu41Gln)" "" "0000984231" "00024274" "50" "2162" "0" "2162" "0" "c.2162T>C" "r.(?)" "p.(Val721Ala)" "" "0000984232" "00024274" "90" "2070" "0" "2072" "0" "c.2070_2072del" "r.(?)" "p.(Val691del)" "" "0000984233" "00024274" "50" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Val690Ile)" "" "0000984234" "00024274" "50" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Arg612Cys)" "" "0000984235" "00024274" "50" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "" "0000984236" "00024274" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Cys)" "" "0000984237" "00024274" "30" "798" "-10" "798" "-10" "c.798-10C>T" "r.(=)" "p.(=)" "" "0000984238" "00024274" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Ala147Thr)" "" "0000984239" "00024274" "30" "210" "-2968" "210" "-2968" "c.210-2968G>A" "r.(=)" "p.(=)" "" "0000984240" "00024274" "50" "210" "-2969" "210" "-2969" "c.210-2969C>T" "r.(=)" "p.(=)" "" "0001007091" "00024274" "70" "798" "-12" "1742" "46" "c.(?_798-12)_(1742+46_?)dup" "r.(798_1742dup)" "p.(Cys267_Lys581dup)" "5i_12i" "0001007092" "00024274" "90" "109" "0" "109" "0" "c.109C>T" "r.109c>t" "p.(Arg37*)" "2" "0001015945" "00024274" "70" "2207" "0" "2207" "0" "c.2207C>G" "r.(?)" "p.(Thr736Arg)" "" "0001015946" "00024274" "70" "1957" "0" "1957" "0" "c.1957G>T" "r.(?)" "p.(Gly653Cys)" "" "0001015947" "00024274" "90" "1117" "0" "1117" "0" "c.1117G>C" "r.(?)" "p.(Gly373Arg)" "" "0001043862" "00024274" "50" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Val690Ile)" "" "0001046821" "00024274" "50" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Asp484His)" "" "0001046822" "00024274" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 137 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006089" "0000000209" "0000006090" "0000000209" "0000006091" "0000080924" "0000130010" "0000080925" "0000130011" "0000080926" "0000130012" "0000080927" "0000130013" "0000080928" "0000130014" "0000080932" "0000130018" "0000080933" "0000130019" "0000102528" "0000165270" "0000118120" "0000194160" "0000118121" "0000194161" "0000118121" "0000194198" "0000118122" "0000194162" "0000118122" "0000194217" "0000118123" "0000194163" "0000118124" "0000194164" "0000118124" "0000194248" "0000118125" "0000194165" "0000118126" "0000194166" "0000118127" "0000194167" "0000118127" "0000194197" "0000118128" "0000194168" "0000118128" "0000194209" "0000118129" "0000194169" "0000118129" "0000194232" "0000118130" "0000194170" "0000118131" "0000194171" "0000118131" "0000194184" "0000118132" "0000194172" "0000118132" "0000194223" "0000118133" "0000194173" "0000118134" "0000194174" "0000118135" "0000194175" "0000118136" "0000194176" "0000118136" "0000194228" "0000118137" "0000194177" "0000118137" "0000194196" "0000118138" "0000194178" "0000118139" "0000194179" "0000118140" "0000194180" "0000118141" "0000194181" "0000118142" "0000194182" "0000118143" "0000194183" "0000118144" "0000194185" "0000118145" "0000194186" "0000118145" "0000194202" "0000118146" "0000194187" "0000118146" "0000194237" "0000118147" "0000194188" "0000118147" "0000194238" "0000118148" "0000194189" "0000118148" "0000194194" "0000118149" "0000194190" "0000118150" "0000194191" "0000118151" "0000194192" "0000118152" "0000194193" "0000118153" "0000194195" "0000118154" "0000194199" "0000118154" "0000194204" "0000118155" "0000194200" "0000118155" "0000194219" "0000118156" "0000194201" "0000118157" "0000194203" "0000118158" "0000194205" "0000118159" "0000194206" "0000118160" "0000194207" "0000118161" "0000194208" "0000118162" "0000194210" "0000118162" "0000194213" "0000118163" "0000194211" "0000118163" "0000194241" "0000118164" "0000194212" "0000118164" "0000194242" "0000118165" "0000194214" "0000118166" "0000194215" "0000118167" "0000194216" "0000118167" "0000194226" "0000118168" "0000194218" "0000118169" "0000194220" "0000118170" "0000194221" "0000118170" "0000194231" "0000118171" "0000194222" "0000118172" "0000194224" "0000118172" "0000194239" "0000118173" "0000194225" "0000118174" "0000194227" "0000118175" "0000194229" "0000118176" "0000194230" "0000118177" "0000194233" "0000118178" "0000194234" "0000118179" "0000194235" "0000118180" "0000194236" "0000118181" "0000194240" "0000118182" "0000194243" "0000118183" "0000194244" "0000118184" "0000194245" "0000118185" "0000194246" "0000118186" "0000194247" "0000151010" "0000244167" "0000151010" "0000244168" "0000164609" "0000367858" "0000175282" "0000395153" "0000175283" "0000395154" "0000287006" "0000642742" "0000294288" "0000650977" "0000294289" "0000650978" "0000294290" "0000650979" "0000294291" "0000650980" "0000296582" "0000653271" "0000304029" "0000667421" "0000307293" "0000673895" "0000334710" "0000732690" "0000337070" "0000736635" "0000337070" "0000736636" "0000362746" "0000763120" "0000362896" "0000763270" "0000375633" "0000786984" "0000375634" "0000786985" "0000375635" "0000786986" "0000375635" "0000787515" "0000375636" "0000786987" "0000375637" "0000786988" "0000375637" "0000787516" "0000375638" "0000786989" "0000375811" "0000787162" "0000375811" "0000787551" "0000376002" "0000787353" "0000376003" "0000787354" "0000382003" "0000795637" "0000406171" "0000842402" "0000406171" "0000842403" "0000419811" "0000879978" "0000427465" "0000904825" "0000455091" "0001007091" "0000455091" "0001007092"