### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MFSD8) # 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}}" "MFSD8" "major facilitator superfamily domain containing 8" "4" "q28.2" "unknown" "NG_008657.1" "UD_132084482158" "" "https://www.LOVD.nl/CLN8" "" "1" "28486" "256471" "611124" "1" "1" "1" "1" "Alias CLN7.\r\nAn NCL gene variant database.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MFSD8_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-04 11:44:38" "00000" "2025-02-07 18:57:27" ## 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}}" "00012078" "MFSD8" "major facilitator superfamily domain containing 8" "001" "NM_152778.2" "" "NP_689991.1" "" "" "" "-163" "4382" "1557" "128887139" "128838960" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "02997" "CLN7" "lipofuscinosis, ceroid, neuronal, type 7 (CLN7)" "AR" "610951" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-04 11:44:16" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "04577" "CCMD" "dystrophy, macular, with central cone involvement (CCMD)" "AR" "616170" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MFSD8" "02997" "MFSD8" "04577" "MFSD8" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 181 "{{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}}" "00080937" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081056" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00132273" "" "" "" "1" "" "00006" "Cismondi, SAG2017, Cordoba P22" "" "" "" "Argentina" "" "0" "" "" "" "Pat1" "00132274" "" "" "" "1" "" "00006" "Cismondi, SAG2017, Cordoba P22" "" "" "" "Argentina" "15y" "0" "" "" "" "Pat2" "00132275" "" "" "" "1" "" "00006" "Cismondi, SAG2017, Cordoba P22" "" "" "" "Argentina" "" "0" "" "" "" "Pat3" "00229684" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229686" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Argentina" "" "0" "" "" "" "" "00229687" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229688" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229689" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229690" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Cook Islands" "" "0" "" "" "" "" "00229691" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229692" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Canada" "" "0" "" "" "" "" "00229693" "" "" "" "1" "" "00011" "?" "?" "" "" "Italy" "" "0" "" "" "?" "" "00229694" "" "" "" "1" "" "00011" "" "?" "" "" "" "" "0" "" "" "?" "" "00229695" "" "" "" "1" "" "00011" "{PMID:Stogmann 2009:18850119}" "sibs" "" "" "Egypt" "" "0" "" "" "" "" "00229696" "" "" "" "1" "" "00011" "{PMID:Stogmann 2009:18850119}" "" "" "" "Egypt" "" "0" "" "" "" "" "00229697" "" "" "" "1" "" "00011" "{PMID:Stogmann 2009:18850119}" "" "" "" "Egypt" "" "0" "" "" "" "" "00229698" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "India" "" "0" "" "" "" "" "00229699" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "sibs" "" "" "Canada" "" "0" "" "" "" "" "00229700" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229701" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "CLN5: p.Trp75Arg" "" "" "Turkey" "" "0" "" "" "" "" "00229702" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Romania" "" "0" "" "" "" "" "00229703" "" "" "" "1" "" "00011" "F Laranjeira pers comm" "" "" "" "" "" "0" "" "" "African-Portuguese" "" "00229704" "" "" "" "1" "" "00011" "F Laranjeira pers comm" "" "" "" "" "" "0" "" "" "African-Portuguese" "" "00229705" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532} {PMID:Kousi 2009:19201763}" "" "" "" "Italy" "" "0" "" "" "" "" "00229706" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970} {PMID:Topcu 2004:15074367}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229707" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229708" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229709" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "sibs" "" "" "Turkey" "" "0" "" "" "" "" "00229710" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "CLN5: p.Lys368Arg" "" "" "Turkey" "" "0" "" "" "" "" "00229711" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229712" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229713" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229714" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "CLN5: p.Arg2Cys" "" "" "Turkey" "" "0" "" "" "" "" "00229715" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229716" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229717" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229718" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229719" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229720" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229721" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229722" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229723" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)/ CLN5: p.Arg2Cys / (sibs)" "" "" "Turkey" "" "0" "" "" "" "" "00229724" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)" "" "" "Turkey" "" "0" "" "" "" "" "00229725" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "(vJNCL in one patient with vacuolated lymphocytes carrying CLN5 polymorphism c.4T>C)" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229726" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "sibs" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229727" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229728" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229729" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229730" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229731" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229732" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229733" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229734" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229735" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229736" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229737" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229738" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229739" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229740" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00229741" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229742" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "" "00229743" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Spain" "" "0" "" "" "" "" "00229744" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Czech Republic" "" "0" "" "" "Roma" "" "00229745" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "CLN5: p.Lys368Arg" "" "" "India" "" "0" "" "" "" "" "00229746" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229747" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "CLN5: p.Lys368Arg" "" "" "Turkey" "" "0" "" "" "" "" "00229748" "" "" "" "1" "" "00011" "?" "?" "" "" "" "" "0" "" "" "?" "" "00229749" "" "" "" "1" "" "00011" "" "?" "" "" "" "" "0" "" "" "?" "" "00229750" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "CLN5: p.Arg2Cys; p.Trp75Arg" "" "" "Turkey" "" "0" "" "" "" "" "00229751" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy;France" "" "0" "" "" "" "" "00229752" "" "" "" "1" "" "00011" "{PMID:Aldahmesh 2009:19277732}" "sibs" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00229753" "" "" "" "1" "" "00011" "{PMID:Aldahmesh 2009:19277732}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00229754" "" "" "" "1" "" "00011" "{PMID:Aldahmesh 2009:19277732}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00229755" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "Which are disease mutations?" "" "" "Mexico" "" "0" "" "" "" "" "00229756" "" "" "" "1" "" "00011" "{PMID:Siintola 2007:17564970}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229757" "" "" "" "1" "" "00011" "{PMID:Aiello 2009:19177532}" "" "" "" "Italy" "" "0" "" "" "" "" "00229758" "" "" "" "1" "" "00011" "{PMID:Kousi 2009:19201763}" "" "" "" "Albania;Greece" "" "0" "" "" "" "" "00229759" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "CLN5: p.Leu198Pro" "" "" "Turkey" "" "0" "" "" "" "" "00229760" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Turkey" "" "0" "" "" "" "" "00229761" "" "" "" "1" "" "00011" "{PMID:Kousi 2012:21990111}" "" "" "" "Argentina" "" "0" "" "" "" "" "00293545" "" "" "" "136" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293546" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304982" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307878" "" "" "" "1" "" "03765" "" "" "F" "yes" "United Arab Emirates" "" "" "" "" "" "?" "00307879" "" "" "" "1" "" "03765" "" "" "M" "?" "Saudi Arabia" "" "" "" "" "" "?" "00307880" "" "" "" "1" "" "03765" "" "" "F" "" "Lebanon" "" "" "" "" "" "?" "00307955" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "16DG0485" "00316199" "" "" "" "1" "" "00006" "{PMID:Kim 2019:31597037}" "" "F" "" "United States" "" "0" "" "splice-modulating antisense oligonucleotide treatment" "" "patient" "00328114" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005235" "00328130" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005501" "00328234" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G008157" "00328296" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000168" "00333927" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "350" "00335194" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "134" "00361625" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "08DG-00245" "00374395" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1912" "00374396" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4504" "00374397" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2284" "00374398" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6" "00374399" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1925" "00380118" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "M" "" "" "" "0" "" "" "" "?" "00380119" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00381887" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "37" "00383482" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "7A" "00383483" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "7B" "00383484" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "7C" "00384513" "" "" "" "1" "" "00000" "{PMID:Ren 2019:31105743}" "AR" "F" "no" "China" "" "0" "" "" "" "4" "00384545" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "no" "" "14y" "0" "" "" "" "25" "00384546" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "yes" "" "" "0" "" "" "" "26" "00384547" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "?" "" "" "0" "" "" "" "27" "00384548" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "?" "" "" "0" "" "" "" "28" "00384549" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "?" "" "7y7m" "0" "" "" "" "29" "00384550" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "M" "?" "" "" "0" "" "" "" "30" "00386766" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2915_004500" "00388288" "" "" "" "1" "" "00000" "{PMID:Kozina 2020:32412666}" "" "F" "no" "Russia" "" "0" "" "" "" "3" "00390307" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005235" "00390308" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005501" "00390309" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008157" "00390310" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000168" "00390967" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390980" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390989" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00415309" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family A, patient II:1" "F" "" "" "" "0" "" "" "Iranian" "A_II:1" "00415310" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family A, patient II:2" "F" "" "" "" "0" "" "" "Iranian" "A_II:2" "00415311" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family A, patient II:3" "M" "" "" "" "0" "" "" "Iranian" "A_II:3" "00415312" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family A, patient II:4" "M" "" "" "" "0" "" "" "Iranian" "A_II:4" "00415313" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family A, patient II:5" "F" "" "" "" "0" "" "" "Iranian" "A_II:5" "00415314" "" "" "" "1" "" "00000" "{PMID:Roosing 2015:25227500}" "Family B, patient II:1" "M" "" "" "" "0" "" "" "Iranian" "B_II:1" "00415315" "" "" "" "1" "" "00000" "{PMID:Mandel 2014:25270050}" "Christian Arab consanguineous family living in Northern Israel" "F" "yes" "Israel" "15y" "0" "" "" "Israeli Arab" "IV-1" "00415316" "" "" "" "1" "" "00000" "{PMID:Mandel 2014:25270050}" "Christian Arab consanguineous family living in Northern Israel" "F" "yes" "Israel" "18y" "0" "" "" "Israeli Arab" "IV-2" "00415317" "" "" "" "1" "" "00000" "{PMID:Mandel 2014:25270050}" "Christian Arab consanguineous family living in Northern Israel" "M" "yes" "Israel" "23y" "0" "" "" "Israeli Arab" "IV-3" "00415318" "" "" "" "1" "" "00000" "{PMID:Mandel 2014:25270050}" "Christian Arab consanguineous family living in Northern Israel" "M" "yes" "Israel" "14y" "0" "" "" "Israeli Arab" "IV-4" "00415319" "" "" "" "1" "" "00000" "{PMID:Mandel 2014:25270050}" "Christian Arab consanguineous family living in Northern Israel" "M" "yes" "Israel" "" "0" "" "" "Israeli Arab" "IV-5" "00415320" "" "" "" "1" "" "00000" "{PMID:Patino 2014:25333361}" "Indian family, sibling 2 (sibling\'s 1 DNA could not be obtained)" "M" "" "India" "" "0" "" "" "Indian" "P1" "00415321" "" "" "" "1" "" "00000" "{PMID:Patino 2014:25333361}" "Indian family, sibling 4 (sibling\'s 1 DNA could not be obtained)" "F" "" "India" "" "0" "" "" "Indian" "P2" "00415322" "" "" "" "1" "" "00000" "{PMID:Craiu 2015:25439737}" "" "F" "" "Romania" "" "0" "" "" "white" "?" "00415323" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "F" "" "" "" "0" "" "" "English" "GC19741" "00415324" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "yes" "" "" "0" "" "" "Turkish" "GC17967" "00415325" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "F" "yes" "" "" "0" "" "" "South Indian" "GC14328" "00415326" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "Western Indian (Gujarati)" "GC18458" "00415327" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "South Indian" "GC19832" "00415328" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "yes" "" "" "0" "" "" "Tamil" "GC3716" "00415329" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "F" "" "" "" "0" "" "" "Indian" "GC4694_II:1" "00415330" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "Indian" "GC4694_II:2" "00415331" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "F" "" "" "" "0" "" "" "English" "LE1" "00415332" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "English" "LE2" "00415333" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "English" "LE3" "00415334" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "European/Native American" "CEI1" "00415335" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "European/Native American" "CEI2" "00415336" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "European/Native American" "CEI_III:7" "00415337" "" "" "" "1" "" "00000" "{PMID:Khan 2017:28586915}" "" "M" "" "" "" "0" "" "" "European/Native American" "CEI_II:3" "00415338" "" "" "" "1" "" "00000" "{PMID:Kozina 2018:30144815}" "" "" "" "Russia" "" "0" "" "treatment with anticonvulsant drugs: topiramate (100 mg/day) and levetiracetam (1200 mg/day)" "Russian" "?" "00415339" "" "" "" "1" "" "00000" "{PMID:Hosseini Bereshneh 2018:30249282}" "" "M" "" "Iran" "" "0" "" "" "Iranian" "?" "00415350" "" "" "" "1" "" "00000" "{PMID:Zare-Abdollahi 2019:31006324}" "Family A, proband" "M" "yes" "Iran" "" "0" "" "" "Iranian (Ardakan)" "A_V-1" "00415351" "" "" "" "1" "" "00000" "{PMID:Zare-Abdollahi 2019:31006324}" "Family A, proband\'s sister 3" "M" "yes" "Iran" "" "0" "" "" "Iranian (Ardakan)" "A_V-7" "00415352" "" "" "" "1" "" "00000" "{PMID:Zare-Abdollahi 2019:31006324}" "Family A, proband\'s 3rd cousin" "F" "yes" "Iran" "" "0" "" "" "Iranian (Ardakan)" "A_V-9" "00415353" "" "" "" "1" "" "00000" "{PMID:Zare-Abdollahi 2019:31006324}" "Family B, proband" "M" "yes" "Iran" "" "0" "" "" "Iranian (Shahroud)" "B_IV-1" "00415354" "" "" "" "1" "" "00000" "{PMID:Zare-Abdollahi 2019:31006324}" "Family B, proband\'s brother" "M" "yes" "Iran" "" "0" "" "" "Iranian (Shahroud)" "B_IV-2" "00415356" "" "" "" "1" "" "00000" "{PMID:Magliyah 2019:31909682}" "" "F" "yes" "Saudi Arabia" "" "0" "" "Topiramate 100 mg daily and Levetiracetam 800 mg BID" "Saudi" "?" "00422675" "" "" "" "1" "" "00000" "{PMID:Bauwens 2020:31721179}" "" "M" "" "" "" "0" "" "" "" "?" "00433029" "" "" "" "2" "" "04178" "" "" "F;M" "yes" "Egypt" "" "" "" "" "" "" "00447202" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-272-1" "00447203" "" "" "00447202" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "MISC-272-2" "00447536" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-791" "00447558" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-201" "00450879" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071563" "00450880" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071747" "00450881" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071785" "00450882" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072011" "00451313" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074713" "00454832" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Netherlands" "" "0" "" "" "" "Pat6" "00455537" "" "" "" "1" "" "04758" "Venier 2024, submitted" "" "M" "no" "Argentina" "" "" "" "" "" "Subject #1" "00455615" "" "" "" "1" "" "04758" "Venier 2024, submitted" "" "F" "no" "Argentina" "" "" "" "" "" "Subject #2" "00455616" "" "" "" "1" "" "04758" "Venier 2024, submitted" "" "F" "no" "Paraguay" "" "" "" "" "" "Subject #3" "00455618" "" "" "" "1" "" "04758" "Venier 2024, submitted" "" "M" "no" "Argentina" "" "" "" "" "" "Subject #4" "00455619" "" "" "" "1" "" "04758" "Venier 2024, submitted" "" "F" "no" "Argentina" "" "" "" "" "" "Subject #5" "00455836" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat76" "00456226" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat4" "00456253" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat31" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 181 "{{individualid}}" "{{diseaseid}}" "00080937" "02997" "00081056" "02997" "00132273" "05258" "00132274" "05258" "00132275" "05258" "00229684" "02997" "00229686" "02997" "00229687" "02997" "00229688" "02997" "00229689" "02997" "00229690" "02997" "00229691" "02997" "00229692" "02997" "00229693" "02997" "00229694" "00198" "00229695" "02997" "00229696" "02997" "00229697" "02997" "00229698" "02997" "00229699" "02997" "00229700" "02997" "00229701" "00198" "00229702" "02997" "00229703" "02997" "00229704" "02997" "00229705" "02997" "00229706" "02997" "00229707" "02997" "00229708" "02997" "00229709" "02997" "00229710" "02997" "00229711" "02997" "00229712" "02997" "00229713" "02997" "00229714" "02997" "00229715" "02997" "00229716" "02997" "00229717" "02997" "00229718" "02997" "00229719" "02997" "00229720" "02997" "00229721" "02997" "00229722" "02997" "00229723" "02997" "00229724" "02997" "00229725" "02997" "00229726" "02997" "00229727" "02997" "00229728" "02997" "00229729" "02997" "00229730" "02997" "00229731" "02997" "00229732" "02997" "00229733" "02997" "00229734" "02997" "00229735" "02997" "00229736" "02997" "00229737" "02997" "00229738" "02997" "00229739" "02997" "00229740" "02997" "00229741" "02997" "00229742" "02997" "00229743" "02997" "00229744" "02997" "00229745" "02997" "00229746" "02997" "00229747" "02997" "00229748" "02997" "00229749" "00198" "00229750" "02997" "00229751" "02997" "00229752" "02997" "00229753" "02997" "00229754" "02997" "00229755" "00198" "00229756" "02997" "00229757" "02997" "00229758" "02997" "00229759" "00198" "00229760" "00198" "00229761" "02997" "00293545" "00198" "00293546" "00198" "00304982" "00198" "00307878" "02997" "00307879" "02997" "00307880" "02997" "00307955" "00139" "00316199" "00198" "00328114" "04214" "00328130" "04214" "00328234" "04214" "00328296" "04214" "00333927" "04214" "00335194" "00198" "00361625" "00139" "00374395" "00198" "00374396" "00198" "00374397" "00198" "00374398" "00198" "00374399" "00198" "00380118" "04214" "00380119" "04214" "00381887" "04214" "00383482" "05258" "00383483" "05258" "00383484" "05258" "00384513" "04214" "00384545" "05258" "00384546" "05258" "00384547" "05258" "00384548" "05258" "00384549" "05258" "00384550" "05258" "00386766" "04214" "00388288" "05258" "00390307" "04214" "00390308" "04214" "00390309" "04214" "00390310" "04214" "00390967" "04214" "00390980" "04214" "00390989" "04214" "00415309" "04214" "00415310" "04214" "00415311" "04214" "00415312" "04214" "00415313" "04214" "00415314" "04214" "00415315" "04214" "00415316" "04214" "00415317" "04214" "00415318" "04214" "00415319" "04214" "00415320" "04214" "00415321" "04214" "00415322" "04214" "00415323" "04214" "00415324" "04214" "00415325" "04214" "00415326" "04214" "00415327" "04214" "00415328" "04214" "00415329" "04214" "00415330" "04214" "00415331" "04214" "00415332" "04214" "00415333" "04214" "00415334" "04214" "00415335" "04214" "00415336" "04214" "00415337" "04214" "00415338" "04214" "00415339" "04214" "00415350" "04214" "00415351" "04214" "00415352" "04214" "00415353" "04214" "00415354" "04214" "00415356" "04214" "00422675" "04214" "00433029" "02997" "00447202" "00198" "00447203" "00198" "00447536" "00198" "00447558" "00198" "00450879" "04249" "00450880" "04249" "00450881" "04249" "00450882" "04249" "00451313" "04249" "00454832" "05611" "00455537" "02997" "00455615" "02997" "00455616" "02997" "00455618" "02997" "00455619" "02997" "00455836" "00198" "00456226" "00198" "00456253" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02997, 04214, 04249, 04577, 05258, 05611 ## Count = 176 "{{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}}" "0000060506" "02997" "00080937" "01758" "Familial, autosomal recessive" "" "Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)" "" "" "" "" "" "" "" "" "" "" "" "0000060625" "02997" "00081056" "01758" "Familial, autosomal recessive" "" "Ceroid lipofuscinosis, neuronal, 7 (OMIM:610951)" "" "" "" "" "" "" "" "" "" "" "" "0000104463" "05258" "00132273" "00006" "Familial, autosomal recessive" "08y" "EM curvilinear profiles (CL)" "04y" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000104464" "05258" "00132274" "00006" "Unknown" "" "EM fingerprint-like profiles" "03y07m" "" "" "" "" "" "" "" "" "variant juvenile NCL" "" "0000104465" "05258" "00132275" "00006" "Unknown" "11y" "EM fingerprint-like profiles" "" "" "1y7m" "" "" "" "" "" "" "variant juvenile NCL" "" "0000172891" "02997" "00229684" "00011" "-" "" "Fingerprint/Curvilinear/Granular Osmiophilic Deposits" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172893" "02997" "00229686" "00011" "-" "" "Fingerprint" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172894" "02997" "00229687" "00011" "-" "" "Fingerprint/Curvilinear" "2y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172895" "02997" "00229688" "00011" "-" "" "Fingerprint/Curvilinear" "5y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172896" "02997" "00229689" "00011" "-" "" "" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172897" "02997" "00229690" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172898" "02997" "00229691" "00011" "-" "" "Fingerprint/Curvilinear" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172899" "02997" "00229692" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172900" "02997" "00229693" "00011" "-" "" "" "?" "" "late infantile" "" "" "" "" "" "" "" "" "0000172901" "00198" "00229694" "00011" "-" "" "?" "?" "" "" "" "" "" "" "" "" "" "" "0000172902" "02997" "00229695" "00011" "-" "" "no visual failure reported" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172903" "02997" "00229696" "00011" "-" "" "no visual failure reported" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172904" "02997" "00229697" "00011" "-" "" "no visual failure reported" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172905" "02997" "00229698" "00011" "-" "" "Fingerprint/Curvilinear/Granular Osmiophilic Deposits" "2y9m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172906" "02997" "00229699" "00011" "-" "" "n.a." "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172907" "02997" "00229700" "00011" "-" "" "" "11y" "" "juvenile" "" "" "" "" "" "" "" "" "0000172908" "00198" "00229701" "00011" "-" "" "n.a." "" "" "" "" "" "" "" "" "" "" "" "0000172909" "02997" "00229702" "00011" "-" "" "Fingerprint" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172910" "02997" "00229703" "00011" "-" "" "" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172911" "02997" "00229704" "00011" "-" "" "" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172912" "02997" "00229705" "00011" "-" "" "Fingerprint/Curvilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172913" "02997" "00229706" "00011" "-" "" "Fingerprint" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172914" "02997" "00229707" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172915" "02997" "00229708" "00011" "-" "" "" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172916" "02997" "00229709" "00011" "-" "" "Fingerprint" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172917" "02997" "00229710" "00011" "-" "" "" "2y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172918" "02997" "00229711" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "3y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172919" "02997" "00229712" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172920" "02997" "00229713" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172921" "02997" "00229714" "00011" "-" "" "" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172922" "02997" "00229715" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172923" "02997" "00229716" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172924" "02997" "00229717" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172925" "02997" "00229718" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172926" "02997" "00229719" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172927" "02997" "00229720" "00011" "-" "" "" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172928" "02997" "00229721" "00011" "-" "" "Fingerprint/Curvilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172929" "02997" "00229722" "00011" "-" "" "Fingerprint/Curvilinear" "6y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172930" "02997" "00229723" "00011" "-" "" "" "3y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172931" "02997" "00229724" "00011" "-" "" "" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172932" "02997" "00229725" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172933" "02997" "00229726" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172934" "02997" "00229727" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "3y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172935" "02997" "00229728" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172936" "02997" "00229729" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172937" "02997" "00229730" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172938" "02997" "00229731" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172939" "02997" "00229732" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172940" "02997" "00229733" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172941" "02997" "00229734" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172942" "02997" "00229735" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "1y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172943" "02997" "00229736" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172944" "02997" "00229737" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172945" "02997" "00229738" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172946" "02997" "00229739" "00011" "-" "" "" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172947" "02997" "00229740" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172948" "02997" "00229741" "00011" "-" "" "Fingerprint/Granular Osmiophilic Deposits" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172949" "02997" "00229742" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172950" "02997" "00229743" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172951" "02997" "00229744" "00011" "-" "" "" "4y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172952" "02997" "00229745" "00011" "-" "" "" "3y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172953" "02997" "00229746" "00011" "-" "" "Fingerprint" "6y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172954" "02997" "00229747" "00011" "-" "" "" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000172955" "02997" "00229748" "00011" "-" "" "?" "?" "" "late infantile" "" "" "" "" "" "" "" "" "0000172956" "00198" "00229749" "00011" "-" "" "?" "?" "" "" "" "" "" "" "" "" "" "" "0000172957" "02997" "00229750" "00011" "-" "" "No vacuoles" "3y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172958" "02997" "00229751" "00011" "-" "" "Fingerprint/Curvilinear" "2y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172959" "02997" "00229752" "00011" "-" "" "No inclusions" "6y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172960" "02997" "00229753" "00011" "-" "" "No inclusions" "7y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172961" "02997" "00229754" "00011" "-" "" "No inclusions" "7y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172962" "00198" "00229755" "00011" "-" "" "No inclusions" "7y6m" "" "" "" "" "" "" "" "" "" "" "0000172963" "02997" "00229756" "00011" "-" "" "Fingerprint" "5y" "" "late infantile" "" "" "" "" "" "" "" "" "0000172964" "02997" "00229757" "00011" "-" "" "Fingerprint/Curvilinear" "4y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172965" "02997" "00229758" "00011" "-" "" "Fingerprint/Curvilinear/Rectilinear" "4y6m" "" "late infantile" "" "" "" "" "" "" "" "" "0000172966" "00198" "00229759" "00011" "-" "" "n.a." "" "" "" "" "" "" "" "" "" "" "" "0000172967" "00198" "00229760" "00011" "-" "" "n.a." "" "" "" "" "" "" "" "" "" "" "" "0000172968" "02997" "00229761" "00011" "-" "" "Fingerprint" "" "" "late infantile" "" "" "" "" "" "" "" "" "0000233303" "02997" "00307878" "03765" "Familial, autosomal recessive" "" "Hearing impairment, Optic atrophy, Dementia, Intellectual disability, Failure to thrive, Abnormal facial shape, Developmental regression, Scoliosis, Multiple joint contractures, Respiratory failure, Myoclonic spasms, Gastrostomy tube feeding in infancy, Brain atrophy, Neurodevelopmental delay, Abnormality of movement" "?" "18y05m" "" "" "" "" "" "" "" "" "" "0000233304" "02997" "00307879" "03765" "Familial, autosomal recessive" "" "Hypertelorism, Delayed speech and language development, Global developmental delay, Cerebellar atrophy, Cerebral atrophy, Unsteady gait, Abnormality of the cerebral white matter, Lower limb muscle weakness, Abnormal thalamic MRI signal intensity" "03y06m" "04y08m" "" "" "" "" "" "" "" "" "" "0000233305" "02997" "00307880" "03765" "Familial, autosomal recessive" "" "Seizures, Motor delay, Developmental regression, Abnormality of the cerebral white matter" "?" "01y02m" "" "" "" "" "" "" "" "" "" "0000233378" "00139" "00307955" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., Developmental regression, Seizures, Hypertonia, Hyporeflexia, Abnormal facial shape" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000239946" "00198" "00316199" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6y-insidious onset of blindness, ataxia, seizures, developmental regression; 3y-right foot began turn inward; 4y-pulling books close to face at bedtime; 5y-modest language and social regression, increased clumsiness and stumbling; 6y-progression of symptoms accelerated" "03y" "06y" "" "" "" "" "" "" "CLN7" "Batten’s disease" "" "0000246341" "04214" "00328114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246357" "04214" "00328130" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246461" "04214" "00328234" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000246523" "04214" "00328296" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252112" "04214" "00333927" "00000" "Familial, autosomal recessive" "38y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000252909" "00198" "00335194" "00000" "Unknown" "" "12y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000257030" "00139" "00361625" "00006" "Familial, autosomal recessive" "8y" "not syndromic; Neurodegeneration" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269605" "00198" "00374395" "00006" "Familial, autosomal recessive" "" "Seizures, shivering, walking difficulty, loss of vision and progressive neuroregression" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269606" "00198" "00374396" "00006" "Familial, autosomal recessive" "" "Progressive myoclonic epilepsy, unsteadiness while walking, regression of milestones and speech difficulty" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269607" "00198" "00374397" "00006" "Familial, autosomal recessive" "" "Developmental delay, myoclonic jerks, frequent falls and ataxia. MRI showed cerebellar atrophy" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269608" "00198" "00374398" "00006" "Familial, autosomal recessive" "" "Neuroregression, loss of balance while walking, drooling and delayed speech. MRI showed cerebellar atrophy." "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269609" "00198" "00374399" "00006" "Familial, autosomal recessive" "" "Neuroregression with gait abnormality. MRI was suggestive of NCL" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000273972" "04214" "00380118" "00000" "Unknown" "91y" "Multifocal GA with some drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273973" "04214" "00380119" "00000" "Unknown" "71y" "Central GA without evident drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000275729" "04214" "00381887" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000277267" "05258" "00383482" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: normal" "" "9y" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7 (CLN7)" "" "0000277268" "05258" "00383483" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: atypical" "" "3y5m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7 (CLN7)" "" "0000277269" "05258" "00383484" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: inconsistent" "" "4y2m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7 (CLN7)" "" "0000278298" "04214" "00384513" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Late-infantile neuronal ceroid lipofuscinosis" "" "" "0000278329" "05258" "00384545" "00000" "Familial, autosomal recessive" "14y" "" "4y" "" "Balance and speech problems" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000278330" "05258" "00384546" "00000" "Familial, autosomal recessive" "10y" "" "1y3m" "" "Speech delay" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000278331" "05258" "00384547" "00000" "Familial, autosomal recessive" "15y" "" "5y" "" "Cognitive decline regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000278332" "05258" "00384548" "00000" "Familial, autosomal recessive" "12y" "" "2y9m" "" "Developmental regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000278333" "05258" "00384549" "00000" "Familial, autosomal recessive" "7y7m" "" "3y6m" "" "Ataxia" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000278334" "05258" "00384550" "00000" "Familial, autosomal recessive" "18y" "" "7y" "" "Seizures" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7" "lipofuscinosis, ceroid, neuronal" "" "0000280566" "04214" "00386766" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281843" "05258" "00388288" "00000" "Familial, autosomal recessive" "5y" "Cognitive and motor deterioration, seizures, stereotypies, action myoclonus, partial optic atrophy, MRI signs of cortex, and cerebellar atrophy" "2y6m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 7 (CLN-7)" "lipofuscinosis, ceroid, neuronal (CLN)" "" "0000283845" "04214" "00390307" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283846" "04214" "00390308" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283847" "04214" "00390309" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283848" "04214" "00390310" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284455" "04214" "00390967" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284468" "04214" "00390980" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284477" "04214" "00390989" "00000" "Unknown" "61y-65y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000307106" "04214" "00415309" "00000" "Familial, autosomal recessive" "65y" "best corrected visual acuity right, left eye: 20/200, 20/200; refraction (spherical equivalent) right, left eye: -4.25D, -3.75D; fundus: myopic optic discs with slightly attenuated vessels, macular bull\'s eye with relatively spared fovea with surrounding atrophic ring (le>re), little retinal pigment epithelium defects superior of macula, blonde aspect of fundus; autofluorescence: not performed; optical coherence tomography:not performed; color vision testing:not performed; visual field (Goldmann):decrease of central sensitivity, no other abnormalities (43y); electroretinogram:photopic and scotopic responses normal, multifocal electroretinography severely reduced responses (51y)" "" "43y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307107" "04214" "00415310" "00000" "Familial, autosomal recessive" "71y" "best corrected visual acuity right, left eye: 5/200, 1/60; refraction (spherical equivalent) right, left eye: ; fundus: optic discs normal, subtle changes in macula, no other abnormalities (50y). central retinal pigment epithelium changes; autofluorescence: not performed; optical coherence tomography:not performed; color vision testing:red-green defect, right eye decreased red sensitivity, left eye scotopization (51y) right eye enlarged defect, left eye stable (54y); visual field (Goldmann):decrease of central sensitivity, no other abnormalities (48y); electroretinogram:photopic and scotopic responses normal, multifocal electroretinography severely reduced responses (51y)" "" "50y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307108" "04214" "00415311" "00000" "Familial, autosomal recessive" "67y" "best corrected visual acuity right, left eye: 1/60, 10/200; refraction (spherical equivalent) both eyes: both eyes: -6.0D; fundus: myopic configuration of optic disc, peripapillary atrophy, retinal pigment epithelium changes in macula, periphery no abnormalities (57y) profound atrophy central in fovea; autofluorescence: hypofluorescent central area surrounded by a hyperfluorescent ring; optical coherence tomography:foveal atrophy, thinned retina; color vision testing:both eyes highly variable with red-green defect (57y); visual field (Goldmann):right eye inferior temporal defect in i2, decrease of central sensitivity and slightly enlarged blind spot, left eye decrease of central sensitivity (57y); electroretinogram:multifocal electroretinography severely reduced responses (57y), photopic responses subnormal, scotopic responses normal (61y)" "" "57y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307109" "04214" "00415312" "00000" "Familial, autosomal recessive" "66y" "best corrected visual acuity right, left eye: 10/200, 10/200; refraction (spherical equivalent) right, left eye: -8.0D, -7.0D; fundus: papillary rim somewhat pale, attenuated arteries, macular pigmentations, seems macular bull\'s eye (29y). central retinal pigment epithelium and choroid atrophy, subjectively stable (59y); autofluorescence: hyperfluorescent small central area; optical coherence tomography:not performed; color vision testing:acquired red-green defect with tendency to central achm both eyes (29y); visual field (Goldmann):reduced central sensitivity, periphery normal (31y); electroretinogram:photopic and scotopic responses normal (51y), multifocal electroretinography severely reduced responses" "" "29y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307110" "04214" "00415313" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: 125/200, 50/200; refraction (spherical equivalent) right, left eye: -8.0D, -7.0D; fundus: mild peripapillary atrophy granular aspect of macula, periphery no abnormalities; autofluorescence: symmetrical central alterations at the level of the outer retinal layers; optical coherence tomography:relatively symmetrical central alterations at the level of the outer retinal layers; color vision testing:both eyes red-green defect with decreased redsensitivity (37y); visual field (Goldmann):decrease of central sensitivity, no other abnormalities; electroretinogram:photopic and scotopic responses normal, multifocal: significantly reduced central responses" "" "37y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307111" "04214" "00415314" "00000" "Familial, autosomal recessive" "62y" "best corrected visual acuity right, left eye: counting fingers, counting fingers; refraction (spherical equivalent) right, left eye: -4.0D, -3.25D; fundus: optic disc pallor, attenuated arterioles, retinal pigment epithelium atrophy in posterior pole, normal appearance of (mid)peripheral retinal pigment epithelium ; autofluorescence: decreased autofluorescence in central macula, perimacular mottled pattern of hypofluorescence; optical coherence tomography:loss of retinal layers at the fovea, partially present, but irregular outer retinal layers perifoveally and in posterior pole, intact inner retina, thickened choroid; color vision testing:both eyes deutan anomaly with panel d-15 (42y); visual field (Goldmann):both eyes large central scotoma with relative intact periphery; electroretinogram:scotopic responses significantly reduced isolated rod and mixed responses both eyes; photopic responses significantly reduced 30 Hz and single flash responses right eye, responses within normal limits left eye (latencies prolonged both eyes)" "" "27y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307112" "04214" "00415315" "00000" "Familial, autosomal recessive" "" "initial symptoms: focal and generalized seizures; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 9y; wheelchair bound (age): 12y; electroretinogram (age): moderate reduction (8y); brain imaging (age): magnetic resonance imaging -moderate cerebral and severe cerebellar atrophy (8y); electron microscopic examination of cortical neurons: fingerprint (rectal mucosa)" "" "" "" "" "" "" "" "" "variant late infantile neuronal ceroid lipofuscinosis" "" "" "0000307113" "04214" "00415316" "00000" "Familial, autosomal recessive" "" "initial symptoms: febrile convulsion; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 8y; wheelchair bound (age): 14y; electroretinogram (age): moderate reduction (7y); brain imaging (age): computer tomopgraphy -cerebellar atrophy (12y); electron microscopic examination of cortical neurons: fingerprint (rectal mucosa)" "" "" "" "" "" "" "" "" "variant late infantile neuronal ceroid lipofuscinosis" "" "" "0000307114" "04214" "00415317" "00000" "Familial, autosomal recessive" "" "initial symptoms: generalized seizures; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 9y; wheelchair bound (age): 14y; electroretinogram (age): nd; brain imaging (age): computer tomopgraphy-cerebellar atrophy and mild cerebral atrophy; electron microscopic examination of cortical neurons: rectilinear, curvilinear, granular osmiophilic deposits (brain cortex)" "" "" "" "" "" "" "" "" "variant late infantile neuronal ceroid lipofuscinosis" "" "" "0000307115" "04214" "00415318" "00000" "Familial, autosomal recessive" "" "initial symptoms: generalized seizures; cognitive retardation (age of onset): 9y; visual impairment (age of onset): 8y; ataxia/gait impairment (age of onset): 8y; wheelchair bound (age): 14y; electroretinogram (age): severe reduction (11y); brain imaging (age): computer tomopgraphy-cerebellar atrophy and white matter changes (11y); electron microscopic examination of cortical neurons: fingerprint, rectilinear (rectal mucosa)" "" "" "" "" "" "" "" "" "variant late infantile neuronal ceroid lipofuscinosis" "" "" "0000307116" "04214" "00415319" "00000" "Familial, autosomal recessive" "20y" "initial symptoms: generalized seizures; cognitive retardation (age of onset): 10y; visual impairment (age of onset): 9y; ataxia/gait impairment (age of onset): 9y; wheelchair bound (age): 14y; electroretinogram (age): not done; brain imaging (age): not done; electron microscopic examination of cortical neurons: not done" "" "" "" "" "" "" "" "" "variant late infantile neuronal ceroid lipofuscinosis" "" "" "0000307117" "04214" "00415320" "00000" "Familial, autosomal recessive" "12y" "failed a school vision test at the age of 5-6 years, referred for an eye check-up; subsequently developed seizures; visual acuity of 2/60 in both eyes; fundus: bilateral pale optic discs, severe arteriolar attenuation with diffuse pigment mottling throughout the fundus and few bony spicules; spectral-domain optical coherence tomography: diffuse loss of photoreceptors; full field electroretinogram: severe attenuation of the rod and cone responses; last examination (12y) vision: light perception in both eyes; slurred speech with difficulty in walking and needing assistance; neurological examination ataxia with brisk reflexes in both upper and lower limbs; brain magnetic resonance imaging: diffuse cerebral and cerebellar atrophy with normal thalamus; electroencephalogram: normal background and generalised spikes, polyspike and wave activity" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "" "" "0000307118" "04214" "00415321" "00000" "Familial, autosomal recessive" "8y" "failed a school vision test at the age of 5 years, referred for an eye check-up; subsequently developed seizures 6y, regression of motor milestones noted; visual acuity: counting fingers close to face in the right eye and 6/ 90 in the left eye; fundus: bilateral optic disc pallor with severe arteriolar attenuation and diffuse pigment mottling; spectral-domain optical coherence tomography: severe loss of photoreceptors and foveal thinning; full field electroretinogram: severe rod-cone dysfunction; brain magnetic resonance imaging: mild cerebral atrophy, normal cerebellum and thalamus; last examination (8y): vision: light perception in both eyes, seizures under control with medications" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "" "" "0000307119" "04214" "00415322" "00000" "Familial, autosomal recessive" "7y" "under average developmental milestones achievement, but within normal range until age 12m (head lift at 5m, sitting at 7m to standing around 12m, independent walking at 16m, voluntary grasping normally developed until age of 12m, syllables at age 5m, 3 meaningful words at age 12m); subsequently gradual loss of cognitive and motor abilities, difficulties in maintaining standing position associating frequent falls; acquirement of repetitive stereotypical non-purposeful hands movement in the midline (clapping, keeping them together and frequently introducing them in her mouth), starting around 18m; lost ambulation at age 3.5 years; clinical and neurological examination at admission 5y: head circumference: 47 cm (minus 2 standard deviations), cognitive development: ~18m, with speech impairment (8-10 meaningful words, 2 words sentences, mimicking telephone conversation); preserved vision (visual tracking of moving objects possible), motor development of 5m (head lift possible, rolling from prone to supine), axial hypotonia and limbs hypertonia with brisk deep tendon reflexes, mild truncal and limbs ataxia, combined with extrapyramidal symptoms (wide opening of the mouth), frequent episodes of spontaneous hyperventilation lasting 5-30 s; voluntary grasping present with midline stereotypical movements; magnetic resonance imaging, 5y: unnspecific abnormalities (mild global atrophy) - suspicion of Rett syndrome, but negative for MECP2 mutations. 6y: one event resembling a tonic-clonic nocturnal seizure and focal clonic seizures coming from the right hemisphere; neurological aspect was different: blindness, complete loss of purposeful hands use, no stereotypical hands movements, no spontaneous hyperventilation, mixed neurological signs: severe truncal and limbs ataxia, important contractures of soleus muscles with fixed equine position of both legs, brisk reflexes, intermittent opening of the mouth, and paroxysmal dystonic postures with extended upper and lower limbs; electroencephalogram: slow background with intermittent rhythmic delta activity runs of 2-12 s of 2.5-3.5 Hz bilateral rhythm of 70-200 mV amplitude separated by low-voltage 5-10 mV rhythms; intermittent light stimulation - no change; new MRI: more severe atrophic changes; ophthalmologic examination: pale papilla, significantly narrowed arteries and pigmentary areas in the peripheral retina; visual evoked potentials: severely prolonged conduction latencies; nerve conduction velocities: normal - absence in this moment of Rett symptoms, along with MRI abnormalities, were highly suggestive for neuronal ceroid-lipofuscinosis; bulbar conjunctive biopsy: abnormal curvilinear and fingerprint lysosomal deposits, consistent with the NCL diagnosis; no granular lipopigment (as described in CLN1 and CLN10)" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "Rett syndrome" "" "0000307120" "04214" "00415323" "00000" "Familial, autosomal recessive" "46y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/36, 6/18; final best corrected visual acuity right, left eye (Snellen): 6/60, 6/48; follow up, y: 3; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (51); working diagnosis: occult macular dystrophy; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: loss of foveal reflex, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: no; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes; other: loss of photoreceptor outer segments, preservation of the external limiting membrane, then progressive atrophy" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" "" "0000307121" "04214" "00415324" "00000" "Familial, autosomal recessive" "<35y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/36, 6/36; final best corrected visual acuity right, left eye (Snellen): 3/60, 3/60; follow up, y: 10; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (47); working diagnosis: arRCD; electrophysiology: severe rod-cone dystrophy, unot doneetectable pattern electroretinogram; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307122" "04214" "00415325" "00000" "Familial, autosomal recessive" "19y" "symptoms: loss of acuity: severe; nyctalopia: yes; presentation best corrected visual acuity right, left eye (Snellen): 6/24, 6/60; final best corrected visual acuity right, left eye (Snellen): 6/60, 4/60; follow up, y: 12; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (39); working diagnosis: arRCD; electrophysiology: severe rod-cone dystrophy, unot doneetectable pattern electroretinogram; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307123" "04214" "00415326" "00000" "Familial, autosomal recessive" "<25y" "symptoms: loss of acuity: severe; nyctalopia: yes; presentation best corrected visual acuity right, left eye (Snellen): 6/36, 6/18; final best corrected visual acuity right, left eye (Snellen): counting fingers, hand movement; follow up, y: 42; refraction, mean spherical equivalent: -7D; neurology (age at last examination): normal (71); working diagnosis: arRCD; electrophysiology: abnormal photopic anot done scotopic electroretinogram (29y) electroretinogram decline anot done absent pattern electroretinogram (47y) ; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes; other: choroidal atrophy" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307124" "04214" "00415327" "00000" "Familial, autosomal recessive" "26y" "symptoms: loss of acuity: severe; nyctalopia: yes; presentation best corrected visual acuity right, left eye (Snellen): 6/24, 6/24; final best corrected visual acuity right, left eye (Snellen): 6/24, 6/24; follow up, y: 3; refraction, mean spherical equivalent: -5D; neurology (age at last examination): normal (38); working diagnosis: arRCD; electrophysiology: central macular dysfunction, very mild rod anot done cone dysfunction (35y) ; color fundus photography: macular atrophy: yes, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: no; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307125" "04214" "00415328" "00000" "Familial, autosomal recessive" ">30y" "symptoms: loss of acuity: severe; nyctalopia: yes; presentation best corrected visual acuity right, left eye (Snellen): 6/60, 6/60; final best corrected visual acuity right, left eye (Snellen): no perception of light, perception of light; follow up, y: 23; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (78); working diagnosis: arRCD; electrophysiology: not done; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: no; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes; other: choroidal atrophy, inner/outer nuclear layer cysts" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307126" "04214" "00415329" "00000" "Familial, autosomal recessive" ">20y" "symptoms: loss of acuity: severe; nyctalopia: yes; presentation best corrected visual acuity right, left eye (Snellen): 1/60, 1/60; final best corrected visual acuity right, left eye (Snellen): hand movement, hand movement; follow up, y: 13; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (66); working diagnosis: arRCD; electrophysiology: not done; color fundus photography: macular atrophy: yes, peripheral pigmentation: yes; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: no; peripheral hypo- autofluorescence: yes; optical coherence tomography: macular atrophy: yes; other: choroidal atrophy, inner/outer nuclear layer cysts" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307127" "04214" "00415330" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000307128" "04214" "00415331" "00000" "Familial, autosomal recessive" "30y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/18, 6/18; final best corrected visual acuity right, left eye (Snellen): 6/60, 6/60; follow up, y: 4; refraction, mean spherical equivalent: -1D; neurology (age at last examination): normal (47); working diagnosis: arMD; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: yes, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: not done; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: not done; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307129" "04214" "00415332" "00000" "Familial, autosomal recessive" "28y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/9, 6/18; final best corrected visual acuity right, left eye (Snellen): 6/36, 6/60; follow up, y: 16; refraction, mean spherical equivalent: -1D; neurology (age at last examination): normal (44); working diagnosis: arMD; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: yes, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: not done; ring hyper-autofluorescence: not done; peripheral hypo- autofluorescence: not done; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307130" "04214" "00415333" "00000" "Familial, autosomal recessive" "<35y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 6/36, 6/60; final best corrected visual acuity right, left eye (Snellen): 6/60, 6/60; follow up, y: 1; refraction, mean spherical equivalent: -3D; neurology (age at last examination): normal (43); working diagnosis: arMD; electrophysiology: not done; color fundus photography: macular atrophy: yes, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307131" "04214" "00415334" "00000" "Familial, autosomal recessive" "35y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 2/5, 2/5; final best corrected visual acuity right, left eye (Snellen): 1/5, 1/10; follow up, y: 5; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (54); working diagnosis: Occult macular dystrophy; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: altered foveal reflex only, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: initially hyper-autofluorescence, later loss of autofluorescence; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes; other: loss of photoreceptor outer segments, preservation of the external limiting membrane, then progressive atrophy" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" "" "0000307132" "04214" "00415335" "00000" "Familial, autosomal recessive" "28y" "symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 4/25, 1/8; final best corrected visual acuity right, left eye (Snellen): 1/5, 1/10; follow up, y: 10; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (49); working diagnosis: arMD; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: yes, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: yes; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307133" "04214" "00415336" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307134" "04214" "00415337" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000307135" "04214" "00415338" "00000" "Familial, autosomal recessive" "5y" "born from the fifth pregnancy, second childbirth, delivered by Caesarean section; birthweight: 3800 g; height: 53 cm; Apgar scores, 8 and 8 at 1 and 5 min respectively; no abnormalities in the neonatal period; up to 2.5 years developing according to age without delay of speech and motor development; 2.5y: against a background of trauma of little finger, girl stopped talking; gradually speech restored, but vocabulary decreased; 3y: first febrile seizure attack; significant deterioration in speech and communication, socially withdrawn; brain magnetic resonance imaging: diffuse lesions in the white matter and hypoplasia of the lower cerebellar vermis; 3.5y stereotypic movements appeared; valproic acid (antiepileptic drug); motor deterioration progressed: by the age of 5 stopped walking; Rett syndrome suggested; 5y8m: motor and mental deterioration, visual impairmentand stereotypies; normal physical development: weight: 20.5 kg and height: 111 cm; head: normal shape, head circumference: 50.5 cm (normal);skin: normal and clean; abdomen: soft, painless.; stool and micturition: normal; basic blood and urine tests: normal; no interest in environment, no play activity, absent orientation in space and time; speech and understanding of speech disturbed, used only sounds and syllables; stereotypic movements of hands and face, myoclonus in hands, legs and facial muscles; tactile stimulation enhances myoclonus; able to only hold her head, roll over, sit with periodic falls; ophthalmological evaluation: partial atrophy of optic nerves, nystagmus, retinitis pigmentosa and mixed astigmatism; electroencephalography: significant delay in the formation of cortical electrogenesis and poorly-structured epileptiform activity in the occipitalparietal-posterior temporal regions; magnetic resonance imaging: cortical atrophy, periventricular leukopathy of both hemispheres of the brain and atrophy of the cerebellum; electrocardiography: severe sinus bradyarrhythmia; heart rate 48–84 beats per minu" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "Rett syndrome" "" "0000307136" "04214" "00415339" "00000" "Familial, autosomal recessive" "5y" "speech problems, lack of concentration, walking disability at age of 4 years leading to quadriplegia; spontaneous laughing and crying because of hidden seizure, clumsiness, psychomotor delay, and vision deterioration at age of 5 years which could be the consequence of macular dystrophy; brain magnetic resonance imaging: electroencephalogram: bilateral white matter signal change with preservation of white matter; no available histopathological studies or skin biopsy; organic acids in urine using gas chromatography-mass spectrometry (GCMS): a normal pattern with no evidence for metabolic disorders; no evidence for tyrosinemia, glutaric aciduria, methylmalonic aciduria, Canavan disease, propionic aciduria, isovaleric aciduria, and other organic aciduria; neonatal screening, clinical chemistry, and metabolism assays - norm" "" "" "" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "" "" "0000307147" "04214" "00415350" "00000" "Familial, autosomal recessive" "" "whole family A description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 30-34; perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: two individuals with light perception (LP) and one with no light perception (NLP) bilaterally; refractive error: plano; confrontational visual field and color vision testing: sparing of the peripheral 5deg to 10deg and total achromatism; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema; optic nerve atrophy with choroid involvement with most severe and extensive ophthalmoscopic findings; retinal nerve fiber layer optical coherence tomography: only retinal thinning and atrophy; spectral domain optical coherence tomography: retinal atrophy and epi-retinal membrane at both eyes; left eye retinal fold" "" "" "decreased sharpness of vision followed by increased sensitivity to light (photophobia)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307148" "04214" "00415351" "00000" "Familial, autosomal recessive" "" "whole family A description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 30-34; perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: two individuals with light perception (LP) and one with no light perception (NLP) bilaterally; refractive error: plano; confrontational visual field and color vision testing: sparing of the peripheral 5deg to 10deg and total achromatism; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema; optic nerve atrophy with choroid involvement with most severe and extensive ophthalmoscopic findings; retinal nerve fiber layer optical coherence tomography: only retinal thinning and atrophy; spectral domain optical coherence tomography: retinal atrophy and epi-retinal membrane at both eyes; left eye retinal fold" "" "" "decreased sharpness of vision followed by increased sensitivity to light (photophobia)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307149" "04214" "00415352" "00000" "Familial, autosomal recessive" "" "whole family A description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 30-34; perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: two individuals with light perception (LP) and one with no light perception (NLP) bilaterally; refractive error: plano; confrontational visual field and color vision testing: sparing of the peripheral 5deg to 10deg and total achromatism; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema; optic nerve atrophy with choroid involvement with most severe and extensive ophthalmoscopic findings; retinal nerve fiber layer optical coherence tomography: only retinal thinning and atrophy; spectral domain optical coherence tomography: retinal atrophy and epi-retinal membrane at both eyes; left eye retinal fold" "" "" "decreased sharpness of vision followed by increased sensitivity to light (photophobia)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307150" "04214" "00415353" "00000" "Familial, autosomal recessive" "" "whole family B description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 38-40, perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: right eye: 20/1,000 (equivalent to counting finger 4 feet, CF4\', left eye: 20/2000 (CF2\') ; refractive error: slight hypermetropic; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema" "" "" "decreased sharpness of vision followed by increased sensitivity to light (photophobia)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307151" "04214" "00415354" "00000" "Familial, autosomal recessive" "" "whole family B description: visual field impairment and night blindness (nyctalopia) was emerged at the age of 38-40, perceived flashes of light (photopsia), searching nystagmus; posterior subcapsular lens opacities; best corrected visual acuity: right eye: 20/1,000 (equivalent to counting finger 4 feet, CF4\', left eye: 20/2000 (CF2\') ; refractive error: slight hypermetropic; no capacity of visual fixation on an accommodative target held at 40 cm; fundoscopy: symmetrical involvement, arteriolar attenuation, retinal pigment epithelium atrophy, bone-spicule configuration, waxy pallor of the optic disc, macular scar and resolved cystoid macular edema" "" "" "decreased sharpness of vision followed by increased sensitivity to light (photophobia)" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307152" "04214" "00415356" "00000" "Familial, autosomal recessive" "9y" "best corrected visual acuity 20/300 both eyes; fundus: discrete salt-and-pepper depigmented retinal pigment changes throughout the retinal periphery in both eyes; fundus autofluorescence: unremarkable distribution of autofluorescence except for a mild hyperautofluorescence in the paramacular area in both eyes; optical coherence tomography: severe attenuation of the outer retinal layers; full field electroretinogram flat scotopic and photopic responses in both eyes; developed multiple episodes of seizures for which she had a magnetic resonance imaging (unremarkable); rapid progression and neurological symptoms in childhood - a metabolic or neurodegenerative disease was suspected, especially an infantile or juvenile onset neuronal ceroid lipofuscinosis" "6y" "" "progressive visual loss, night blindness" "" "" "" "" "" "late infantile neuronal ceroid lipofuscinosis" "" "" "0000313879" "04214" "00422675" "00000" "Familial, autosomal recessive" "12y" "transmission electron microscopy of the cells: characteristic membrane-bounded inclusions in different cell types of the skin; in secretory cells of the eccrine sweat glands and blood vessels (endothelial and smooth muscle cells) many pleomorphic inclusions (1-2 um diameter), mixed rectilinear, curvilinear, and fingerprint lamellar profiles, some of the inclusions displayed a more pseudovacuolar aspect (2-3 um diameter); clinical neurological and ophthalmological assessment: 4y5m: a subnormal ; best corrected visual acuity; 5y: ; best corrected visual acuity right/left eye: 0.13 in both eyes, without correction; fundus: central macular abnormalities in keeping with outer retinal atrophy, fishtail flecks typical of Stargardt disease; optical coherence tomography of the macula at age 5 years: selective thinning of the outer retinal layers, more pronounced of those representing the photoreceptors, area of atrophy generally broader than what is typical seen at an early stage Stargardt; 8y, BCVA: 0.07 in both eyes; funduscopy: expansion of the central macular atrophic area surrounded by a hyperautofluorescent ring on blue light autofluorescence imaging; full-field flash electroretinogram (ERG) at both ages: in keeping with a generalized rod-cone dystrophy, with additional post-photoreceptor involvement as evidenced by a more pronounced reduction of the b-wave than the a-wave in the maximal combined rod-cone response (reduced b/a-ratio); optical coherence tomography at age 8: the area of outer retinal atrophy in the macula had increased, in keeping with the increase of the funduscopic lesion; 10y: vision decreased to counting fingers in both eyes, white light and infrared reflectance fundus photography: further expansion of the area of macular atrophy; rapid decline of generalized retinal function illustrated by complete absence of all retinal responses on full-field flash ERG; optical coherence tomography: further extension of the area of outer retinal atrophy in the macula; fundus autofluorescence: extensive retinopathy is reflected by a less well-defined hyperautofluorescent ring in central macula, surrounded by more diffuse hyperautofluorescence within and beyond vascular arcades, including the retinal midperiphery; near-infrared reflectance imaging: fine vertical striations in the interpapillomacular bundle, as previously described in mid to later stage CLN3-related maculopathy; striations visible on optical coherence tomography as fine cobblestone-like abnormalities of the inner limiting membrane; neurological investigation: electroencephalography: no clear epileptiformic discharges, even after intermittent light stimulation; magnetic resonance imaging of the brain initially classified as normal, upon further inspection of T2 weighted images, signs of cerebellar atrophy as well as mild atrophy of the supratentorial cortex; cerebellar atrophy also visible on T1 weighted sagittal images; 12y: (currently) no epileptic seizures or ataxia have occurred" "5y" "" "" "" "" "" "" "" "juvenile isolated maculopathy" "Stargardt disease" "" "0000336401" "00198" "00447202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336402" "00198" "00447203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336735" "00198" "00447536" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336757" "00198" "00447558" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339934" "04249" "00450879" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339935" "04249" "00450880" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339936" "04249" "00450881" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339937" "04249" "00450882" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000343442" "05611" "00454832" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., macular dystrophy, intellectual disability, epilepsy; MRI brain normal; 9y-reduced visual acuity, macula dystrophy with subretinal debris macula (bull’s eye-like); joint hypermobility, hypertelorism" "" "" "" "" "" "" "" "" "CLN7" "neurodevelopmental delay" "" "0000344148" "02997" "00455537" "04758" "Familial, autosomal recessive" "" "HP:0003678 (present);HP:0000572 (present);HP:0002180 (present);HP:0002353 (present);HP:0002373 (present);HP:0000708 (present);HP:0000752 (present);HP:0001249 (present);HP:0030891 (present);HP:0007207 (present);HP:0011147 (present);HP:0001336 (present) (present);HP:0011813 (present);HP:0002059 (present)" "03y" "05y" "HP:0002373;HP:0000708;HP:0001249;HP:0002359" "" "" "" "" "" "" "" "" "0000344149" "02997" "00455615" "04758" "Familial, autosomal recessive" "" "HP:0000750 (present);HP:0001272 (present);HP:0030891 (present);HP:0002353 (present);HP:0002312 (present);HP:0006887 (present)" "04y" "06y" "HP:0000750;HP:0002361" "" "" "" "" "" "" "" "" "0000344150" "02997" "00455616" "04758" "Familial, autosomal recessive" "" "HP:0003678 (present);HP:0000572 (present);HP:0002180 (present);HP:0002353 (present);HP:0002373 (present);HP:0000708 (present);HP:0000752 (present);HP:0001249 (present);HP:0030891 (present);HP:0007207 (present);HP:0011147 (present);HP:0001336 (present) (present);HP:0011813 (present);HP:0002059 (present)" "03y" "04y" "HP:0000750;HP:0001249;HP:0000708" "" "" "" "" "" "" "" "" "0000344152" "02997" "00455618" "04758" "Familial, autosomal recessive" "" "HP:0030891 (present);HP:0001272 (present);HP:0002353 (present);HP:0008035 (present);HP:0000543 (present);HP:0007965 (present);HP:0002123 (present);HP:0007270 (present);HP:0001336 (present);HP:0001347 (present)" "03y" "04y" "HP:0001288" "" "" "" "" "" "" "" "" "0000344153" "02997" "00455619" "04758" "Familial, autosomal recessive" "" "HP:0000750 (present);HP:0001272 (present);HP:0030891 (present);HP:0002353 (present);HP:0002312 (present);HP:0006887 (present);HP:0001251 (present)" "08y" "16y" "HP:0010818" "" "" "" "" "" "" "" "" "0000344369" "00198" "00455836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLN7" "neurogenetic diseases" "" "0000344745" "00198" "00456226" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "2y" "" "" "" "" "" "" "" "CLN7" "lysosomal storage disorder" "" "0000344772" "00198" "00456253" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 181 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081049" "00080937" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081168" "00081056" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133110" "00132273" "1" "00006" "00006" "2017-10-24 14:54:43" "" "" "SEQ" "DNA" "" "" "0000133111" "00132274" "1" "00006" "00006" "2017-10-24 15:00:40" "" "" "SEQ" "DNA" "" "" "0000133112" "00132275" "1" "00006" "00006" "2017-10-24 15:04:22" "" "" "SEQ" "DNA" "" "" "0000230777" "00229684" "1" "00011" "00011" "2012-10-23 16:24:51" "00006" "2012-10-26 12:33:22" "SEQ" "DNA" "" "" "0000230779" "00229686" "1" "00011" "00011" "2012-10-23 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"03840" "2022-08-11 14:38:16" "" "" "SEQ" "DNA" "blood" "" "0000416594" "00415313" "1" "00000" "03840" "2022-08-11 14:38:16" "" "" "SEQ" "DNA" "blood" "" "0000416595" "00415314" "1" "00000" "03840" "2022-08-11 14:38:16" "" "" "SEQ-NG-S;SEQ" "DNA" "blood" "exome sequencing" "0000416596" "00415315" "1" "00000" "03840" "2022-08-11 15:01:33" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416597" "00415316" "1" "00000" "03840" "2022-08-11 15:01:33" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416598" "00415317" "1" "00000" "03840" "2022-08-11 15:01:33" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416599" "00415318" "1" "00000" "03840" "2022-08-11 15:01:33" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416600" "00415319" "1" "00000" "03840" "2022-08-11 15:01:33" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416601" "00415320" "1" "00000" "03840" "2022-08-11 20:54:29" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000416602" "00415321" "1" "00000" "03840" "2022-08-11 20:54:29" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000416603" "00415322" "1" "00000" "03840" "2022-08-12 10:13:25" "03840" "2022-08-12 10:16:20" "SEQ" "DNA" "blood" "CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1" "0000416604" "00415323" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416605" "00415324" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416606" "00415325" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416607" "00415326" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416608" "00415327" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416609" "00415328" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416610" "00415329" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416611" "00415330" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416612" "00415331" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416613" "00415332" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416614" "00415333" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416615" "00415334" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416616" "00415335" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416617" "00415336" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416618" "00415337" "1" "00000" "03840" "2022-08-12 12:23:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome or genome next generation sequencing" "0000416619" "00415338" "1" "00000" "03840" "2022-08-12 13:10:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "clinical exome sequencing carried out by GenotekLtd" "0000416620" "00415339" "1" "00000" "03840" "2022-08-12 13:25:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416631" "00415350" "1" "00000" "03840" "2022-08-12 15:04:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416632" "00415351" "1" "00000" "03840" "2022-08-12 15:04:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416633" "00415352" "1" "00000" "03840" "2022-08-12 15:04:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416634" "00415353" "1" "00000" "03840" "2022-08-12 15:04:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416635" "00415354" "1" "00000" "03840" "2022-08-12 15:04:09" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing of the trio" "0000416637" "00415356" "1" "00000" "03840" "2022-08-12 15:43:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" "Next Generation Sequencing targeted for metabolic and neurodegenerative diseases" "0000423986" "00422675" "1" "00000" "03840" "2022-11-10 17:31:57" "" "" "SEQ-NG;SEQ" "DNA;RNA" "blood" "targeted next-generation sequencing of the coding region of ABCA4; RPGR ORF15 testing; whole exome sequencing; expression analysis; in vitro splice assays" "0000434458" "00433029" "1" "04178" "04178" "2023-02-28 10:50:59" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000448779" "00447202" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448780" "00447203" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449113" "00447536" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449135" "00447558" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452477" "00450879" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452478" "00450880" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452479" "00450881" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452480" "00450882" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452912" "00451313" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000456443" "00454832" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "region of homozygosity" "0000457228" "00455537" "1" "04758" "04758" "2024-10-12 01:48:02" "" "" "SEQ-NG" "DNA" "Leukocytes" "NCL genes panel" "0000457229" "00455615" "1" "04758" "04758" "2024-10-12 19:33:02" "" "" "SEQ-NG" "DNA" "Leukocytes" "Whole exome sequencing" "0000457230" "00455616" "1" "04758" "04758" "2024-10-12 20:42:16" "" "" "SEQ-NG" "DNA" "" "NCL genes panel" "0000457232" "00455618" "1" "04758" "04758" "2024-10-12 20:55:47" "" "" "SEQ-NG" "DNA" "" "Epilepsy and ataxia genes panel" "0000457233" "00455619" "1" "04758" "04758" "2024-10-12 21:15:36" "" "" "SEQ-NG" "DNA" "" "Epilepsy and ataxia genes panel" "0000457452" "00455836" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000457843" "00456226" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457870" "00456253" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 174 "{{screeningid}}" "{{geneid}}" "0000081049" "MFSD8" "0000081168" "MFSD8" "0000133110" "MFSD8" "0000133111" "MFSD8" "0000133112" "MFSD8" "0000230777" "MFSD8" "0000230779" "MFSD8" "0000230780" "MFSD8" "0000230781" "MFSD8" "0000230782" "MFSD8" "0000230783" "MFSD8" "0000230784" "MFSD8" "0000230785" "MFSD8" "0000230786" "MFSD8" "0000230787" "MFSD8" "0000230788" "MFSD8" "0000230789" "MFSD8" "0000230790" "MFSD8" "0000230791" "MFSD8" "0000230792" "MFSD8" "0000230793" "MFSD8" "0000230794" "MFSD8" "0000230795" "MFSD8" "0000230796" "MFSD8" "0000230797" "MFSD8" "0000230798" "MFSD8" "0000230799" "MFSD8" "0000230800" "MFSD8" "0000230801" "MFSD8" "0000230802" "MFSD8" "0000230803" "MFSD8" "0000230804" "MFSD8" "0000230805" "MFSD8" "0000230806" "MFSD8" "0000230807" "MFSD8" "0000230808" "MFSD8" "0000230809" "MFSD8" "0000230810" "MFSD8" "0000230811" "MFSD8" "0000230812" "MFSD8" "0000230813" "MFSD8" "0000230814" "MFSD8" "0000230815" "MFSD8" "0000230816" "MFSD8" "0000230817" "MFSD8" "0000230818" "MFSD8" "0000230819" "MFSD8" "0000230820" "MFSD8" "0000230821" "MFSD8" "0000230822" "MFSD8" "0000230823" "MFSD8" "0000230824" "MFSD8" "0000230825" "MFSD8" "0000230826" "MFSD8" "0000230827" "MFSD8" "0000230828" "MFSD8" "0000230829" "MFSD8" "0000230830" "MFSD8" "0000230831" "MFSD8" "0000230832" "MFSD8" "0000230833" "MFSD8" "0000230834" "MFSD8" "0000230835" "MFSD8" "0000230836" "MFSD8" "0000230837" "MFSD8" "0000230838" "MFSD8" "0000230839" "MFSD8" "0000230840" "MFSD8" "0000230841" "MFSD8" "0000230842" "MFSD8" "0000230843" "MFSD8" "0000230844" "MFSD8" "0000230845" "MFSD8" "0000230846" "MFSD8" "0000230847" "MFSD8" "0000230848" "MFSD8" "0000230849" "MFSD8" "0000230850" "MFSD8" "0000230851" "MFSD8" "0000230852" "MFSD8" "0000230853" "MFSD8" "0000230854" "MFSD8" "0000309018" "MFSD8" "0000309019" "MFSD8" "0000309020" "MFSD8" "0000309099" "MFSD8" "0000317381" "MFSD8" "0000329329" "MFSD8" "0000329345" "MFSD8" "0000329449" "MFSD8" "0000329511" "MFSD8" "0000335153" "MFSD8" "0000336423" "MFSD8" "0000362853" "MFSD8" "0000375589" "MFSD8" "0000375590" "MFSD8" "0000375591" "MFSD8" "0000375592" "MFSD8" "0000375593" "MFSD8" "0000383103" "MFSD8" "0000384707" "MFSD8" "0000384708" "MFSD8" "0000384709" "MFSD8" "0000385738" "MFSD8" "0000385770" "MFSD8" "0000385771" "MFSD8" "0000385772" "MFSD8" "0000385773" "MFSD8" "0000385774" "MFSD8" "0000385775" "MFSD8" "0000387994" "MFSD8" "0000389529" "MFSD8" "0000391548" "MFSD8" "0000391549" "MFSD8" "0000391550" "MFSD8" "0000391551" "MFSD8" "0000392208" "MFSD8" "0000392221" "MFSD8" "0000392230" "MFSD8" "0000416590" "MFSD8" "0000416591" "MFSD8" "0000416592" "MFSD8" "0000416593" "MFSD8" "0000416594" "MFSD8" "0000416595" "MFSD8" "0000416596" "MFSD8" "0000416597" "MFSD8" "0000416598" "MFSD8" "0000416599" "MFSD8" "0000416600" "MFSD8" "0000416601" "MFSD8" "0000416602" "MFSD8" "0000416603" "CLN3" "0000416603" "CLN5" "0000416603" "CLN6" "0000416603" "CLN8" "0000416603" "CTSD" "0000416603" "MFSD8" "0000416603" "PPT1" "0000416603" "TPP1" "0000416604" "MFSD8" "0000416605" "MFSD8" "0000416606" "MFSD8" "0000416607" "MFSD8" "0000416608" "MFSD8" "0000416609" "MFSD8" "0000416610" "MFSD8" "0000416611" "MFSD8" "0000416612" "MFSD8" "0000416613" "MFSD8" "0000416614" "MFSD8" "0000416615" "MFSD8" "0000416616" "MFSD8" "0000416617" "MFSD8" "0000416618" "MFSD8" "0000416619" "MFSD8" "0000416620" "MFSD8" "0000416631" "MFSD8" "0000416632" "MFSD8" "0000416633" "MFSD8" "0000416634" "MFSD8" "0000416635" "MFSD8" "0000416637" "MFSD8" "0000423986" "ABCA4" "0000423986" "MFSD8" "0000423986" "RPGR" "0000457228" "CLN3" "0000457228" "CLN5" "0000457228" "CLN6" "0000457228" "CLN8" "0000457228" "DNAJC5" "0000457228" "MFSD8" "0000457228" "PPT1" "0000457228" "TPP1" ## 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 = 292 "{{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}}" "0000130135" "3" "70" "4" "128861090" "128861090" "subst" "4.06421E-6" "01758" "MFSD8_000055" "g.128861090G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.127939935G>A" "" "likely pathogenic" "ACMG" "0000130254" "3" "70" "4" "128854139" "128854139" "subst" "4.06742E-6" "01758" "MFSD8_000056" "g.128854139C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.127932984C>T" "" "likely pathogenic" "ACMG" "0000222309" "3" "90" "4" "128878707" "128878707" "subst" "8.13762E-6" "00006" "MFSD8_000007" "g.128878707G>A" "" "Cismondi, SAG2017, Cordoba P22" "" "" "maternal inheritance confirmed" "Germline" "" "" "0" "" "" "g.127957552G>A" "" "pathogenic" "" "0000222310" "21" "90" "4" "128878752" "128878752" "del" "0" "00006" "MFSD8_000025" "g.128878752del" "" "Cismondi, SAG2017, Cordoba P22" "" "63-4delC" "no 2nd variant identified" "Germline" "" "" "0" "" "" "g.127957597del" "" "pathogenic" "" "0000222311" "21" "90" "4" "128841898" "128841898" "subst" "1.62508E-5" "00006" "MFSD8_000013" "g.128841898G>A" "" "Cismondi, SAG2017, Cordoba P22" "" "" "no 2nd variant identified" "Germline" "" "" "0" "" "" "g.127920743G>A" "" "pathogenic" "" "0000252083" "0" "30" "4" "128865155" "128865155" "subst" "0.00112449" "02326" "MFSD8_000036" "g.128865155A>G" "" "" "" "MFSD8(NM_152778.2):c.199-8T>C, MFSD8(NM_152778.3):c.199-8T>C, MFSD8(NM_152778.4):c.199-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127944000A>G" "" "likely benign" "" "0000279751" "0" "50" "4" "128842922" "128842922" "subst" "3.25058E-5" "02330" "MFSD8_000050" "g.128842922C>G" "" "" "" "MFSD8(NM_152778.4):c.1107G>C (p.L369F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127921767C>G" "" "VUS" "" "0000279752" "0" "10" "4" "128842718" "128842718" "subst" "0.00203549" "02330" "MFSD8_000048" "g.128842718G>C" "" "" "" "MFSD8(NM_152778.3):c.1311C>G (p.S437=), MFSD8(NM_152778.4):c.1311C>G (p.S437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127921563G>C" "" "benign" "" "0000279753" "0" "10" "4" "128842000" "128842000" "subst" "0.00150847" "02330" "MFSD8_000054" "g.128842000G>A" "" "" "" "MFSD8(NM_152778.3):c.1351-9C>T, MFSD8(NM_152778.4):c.1351-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127920845G>A" "" "benign" "" "0000279754" "0" "10" "4" "128878752" "128878752" "del" "0" "02330" "MFSD8_000025" "g.128878752del" "" "" "" "MFSD8(NM_152778.4):c.63-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127957597del" "" "benign" "" "0000279755" "0" "50" "4" "128859964" "128859964" "subst" "0" "02330" "MFSD8_000053" "g.128859964T>C" "" "" "" "MFSD8(NM_152778.4):c.728A>G (p.Q243R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127938809T>C" "" "VUS" "" "0000286569" "0" "10" "4" "128842876" "128842876" "subst" "0.0248749" "02326" "MFSD8_000049" "g.128842876C>G" "" "" "" "MFSD8(NM_152778.3):c.1153G>C (p.G385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127921721C>G" "" "benign" "" "0000286570" "0" "10" "4" "128842569" "128842569" "subst" "0" "02326" "MFSD8_000047" "g.128842569G>T" "" "" "" "MFSD8(NM_152778.3):c.1350+110C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127921414G>T" "" "benign" "" "0000286571" "0" "10" "4" "128842000" "128842000" "subst" "0.00150847" "02326" "MFSD8_000054" "g.128842000G>A" "" "" "" "MFSD8(NM_152778.3):c.1351-9C>T, MFSD8(NM_152778.4):c.1351-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127920845G>A" "" "benign" "" "0000286572" "0" "30" "4" "128863180" "128863180" "subst" "0.00193034" "02326" "MFSD8_000035" "g.128863180G>A" "" "" "" "MFSD8(NM_152778.3):c.553+20C>T, MFSD8(NM_152778.4):c.553+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127942025G>A" "" "likely benign" "" "0000286573" "0" "30" "4" "128861116" "128861116" "subst" "0.000512145" "02326" "MFSD8_000034" "g.128861116C>T" "" "" "" "MFSD8(NM_152778.2):c.590G>A (p.G197D), MFSD8(NM_152778.3):c.590G>A (p.G197D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127939961C>T" "" "likely benign" "" "0000286574" "0" "30" "4" "128878744" "128878744" "subst" "0.00223325" "02326" "MFSD8_000038" "g.128878744T>A" "" "" "" "MFSD8(NM_152778.2):c.66A>T (p.E22D), MFSD8(NM_152778.3):c.66A>T (p.E22D), MFSD8(NM_152778.4):c.66A>T (p.E22D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127957589T>A" "" "likely benign" "" "0000286575" "0" "30" "4" "128858661" "128858661" "subst" "0" "02326" "MFSD8_000052" "g.128858661T>G" "" "" "" "MFSD8(NM_152778.3):c.754+1277A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127937506T>G" "" "likely benign" "" "0000291778" "0" "30" "4" "128886364" "128886364" "subst" "0" "01943" "MFSD8_000040" "g.128886364C>A" "" "" "" "MFSD8(NM_152778.2):c.-75-1G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127965209C>A" "" "likely benign" "" "0000291779" "0" "30" "4" "128886365" "128886365" "subst" "0" "01943" "MFSD8_000041" "g.128886365T>G" "" "" "" "MFSD8(NM_152778.2):c.-75-2A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127965210T>G" "" "likely benign" "" "0000291780" "0" "30" "4" "128878695" "128878695" "subst" "3.25423E-5" "01943" "MFSD8_000037" "g.128878695T>C" "" "" "" "MFSD8(NM_152778.2):c.115A>G (p.I39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127957540T>C" "" "likely benign" "" "0000291781" "0" "50" "4" "128886243" "128886243" "subst" "8.1418E-6" "01943" "MFSD8_000039" "g.128886243C>G" "" "" "" "MFSD8(NM_152778.2):c.46G>C (p.D16H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127965088C>G" "" "VUS" "" "0000330122" "0" "50" "4" "128886364" "128886364" "subst" "0" "01804" "MFSD8_000040" "g.128886364C>A" "" "" "" "MFSD8(NM_152778.2):c.-75-1G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127965209C>A" "" "VUS" "" "0000330123" "0" "50" "4" "128886365" "128886365" "subst" "0" "01804" "MFSD8_000041" "g.128886365T>G" "" "" "" "MFSD8(NM_152778.2):c.-75-2A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127965210T>G" "" "VUS" "" "0000347839" "0" "70" "4" "128841981" "128841981" "subst" "0.000114155" "02327" "MFSD8_000042" "g.128841981A>G" "" "" "" "MFSD8(NM_152778.4):c.1361T>C (p.M454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000350873" "0" "90" "4" "128870957" "128870957" "subst" "0" "02327" "MFSD8_000045" "g.128870957A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127949802A>G" "" "pathogenic" "" "0000350874" "0" "90" "4" "128878655" "128878655" "subst" "0" "02327" "MFSD8_000046" "g.128878655C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127957500C>T" "" "pathogenic" "" "0000472395" "2" "35" "4" "128886287" "128886287" "subst" "0" "00011" "MFSD8_000014" "g.128886287A>G" "" "{PMID:Aiello 2009:119177532}" "" "Met1Thr" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127965132A>G" "" "likely benign" "" "0000472397" "3" "55" "4" "128878752" "128878752" "del" "0" "00011" "MFSD8_000025" "g.128878752del" "" "{PMID:Kousi 2012:121990111}" "" "63-4delC" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127957597del" "" "VUS" "" "0000472398" "3" "55" "4" "128878707" "128878707" "subst" "8.13762E-6" "00011" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127957552G>A" "" "VUS" "" "0000472399" "3" "55" "4" "128878707" "128878707" "subst" "8.13762E-6" "00011" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Aiello 2009:119177532}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127957552G>A" "" "VUS" "" "0000472400" "3" "55" "4" "128878707" "128878707" "subst" "8.13762E-6" "00011" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127957552G>A" "" "VUS" "" "0000472401" "1" "55" "4" "128878707" "128878707" "subst" "8.13762E-6" "00011" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127957552G>A" "" "VUS" "" "0000472402" "1" "75" "4" "128878656" "128878656" "subst" "1.62997E-5" "00011" "MFSD8_000010" "g.128878656C>T" "" "{PMID:Aiello 2009:119177532}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127957501C>T" "" "likely pathogenic" "" "0000472403" "3" "55" "4" "128865087" "128865087" "subst" "0" "00011" "MFSD8_000020" "g.128865087G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943932G>A" "" "VUS" "" "0000472404" "1" "55" "4" "128865012" "128865012" "subst" "0" "00011" "MFSD8_000022" "g.128865012A>G" "0.03" "{PMID:Aiello 2009:119177532}" "" "334C>T" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943857A>G" "" "VUS" "" "0000472405" "1" "55" "4" "128865012" "128865012" "subst" "0" "00011" "MFSD8_000022" "g.128865012A>G" "0.03" "{PMID:Aiello 2009:119177532}" "" "334C>T" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943857A>G" "" "VUS" "" "0000472406" "3" "75" "4" "128864984" "128864984" "subst" "0" "00011" "MFSD8_000021" "g.128864984T>C" "" "{PMID:Stogmann 2009:118850119}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943829T>C" "" "likely pathogenic" "" "0000472407" "3" "75" "4" "128864984" "128864984" "subst" "0" "00011" "MFSD8_000021" "g.128864984T>C" "" "{PMID:Stogmann 2009:118850119}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943829T>C" "" "likely pathogenic" "" "0000472408" "3" "75" "4" "128864984" "128864984" "subst" "0" "00011" "MFSD8_000021" "g.128864984T>C" "" "{PMID:Stogmann 2009:118850119}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943829T>C" "" "likely pathogenic" "" "0000472409" "3" "75" "4" "128864930" "128864930" "subst" "4.06484E-6" "00011" "MFSD8_000017" "g.128864930C>T" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943775C>T" "" "likely pathogenic" "" "0000472410" "3" "75" "4" "128864930" "128864930" "subst" "4.06484E-6" "00011" "MFSD8_000017" "g.128864930C>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127943775C>T" "" "likely pathogenic" "" "0000472411" "3" "75" "4" "128863284" "128863285" "delins" "0" "00011" "MFSD8_000018" "g.128863284_128863285delinsGG" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127942129_127942130delinsGG" "" "likely pathogenic" "" "0000472412" "3" "75" "4" "128863274" "128863274" "subst" "0" "00011" "MFSD8_000026" "g.128863274G>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127942119G>T" "" "likely pathogenic" "" "0000472413" "2" "75" "4" "128863274" "128863274" "subst" "0" "00011" "MFSD8_000027" "g.128863274G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127942119G>A" "" "likely pathogenic" "" "0000472414" "1" "55" "4" "128861153" "128861153" "subst" "0" "00011" "MFSD8_000028" "g.128861153C>G" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127939998C>G" "" "VUS" "" "0000472415" "3" "55" "4" "128861122" "128861122" "del" "0" "00011" "MFSD8_000025" "g.128861122del" "" "F Laranjeira pers comm" "" "588delA (Gly197fsX1)" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127939967del" "" "VUS" "" "0000472416" "3" "55" "4" "128861122" "128861122" "del" "0" "00011" "MFSD8_000025" "g.128861122del" "" "F Laranjeira pers comm" "" "588delA (Gly197fsX1)" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127939967del" "" "VUS" "" "0000472417" "3" "55" "4" "128861064" "128861080" "del" "0" "00011" "MFSD8_000016" "g.128861064_128861080del" "" "{PMID:Aiello 2009:119177532} {PMID:Kousi 2009:19201763}" "" "627_643delGTATACAACACCAGTTT" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127939909_127939925del" "" "VUS" "" "0000472418" "3" "75" "4" "128861009" "128861009" "subst" "0" "00011" "MFSD8_000001" "g.128861009T>C" "" "{PMID:Siintola 2007:117564970} {PMID:Topcu 2004:15074367}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127939854T>C" "" "likely pathogenic" "" "0000472419" "3" "55" "4" "128859937" "128859937" "subst" "4.07418E-6" "00011" "MFSD8_000029" "g.128859937C>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938782C>T" "" "VUS" "" "0000472420" "3" "55" "4" "128859937" "128859937" "subst" "4.07418E-6" "00011" "MFSD8_000029" "g.128859937C>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938782C>T" "" "VUS" "" "0000472421" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Siintola 2007:117564970} {PMID:Topcu 2004:15074367}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472422" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Siintola 2007:117564970} {PMID:Topcu 2004:15074367}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472423" "1" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2009:119201763}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472424" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472425" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472426" "1" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472427" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472428" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472429" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472430" "3" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472431" "1" "55" "4" "128859936" "128859936" "subst" "8.14094E-6" "00011" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127938781A>T" "" "VUS" "" "0000472432" "3" "55" "4" "128854139" "128854139" "subst" "8.13484E-6" "00011" "MFSD8_000015" "g.128854139C>G" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127932984C>G" "" "VUS" "" "0000472433" "3" "55" "4" "128854139" "128854139" "subst" "8.13484E-6" "00011" "MFSD8_000015" "g.128854139C>G" "" "{PMID:Aiello 2009:119177532}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127932984C>G" "" "VUS" "" "0000472434" "2" "55" "4" "128854136" "128854137" "ins" "0" "00011" "MFSD8_000011" "g.128854136_128854137insA" "" "{PMID:Aiello 2009:119177532}" "" "863+3_4insT" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127932981_127932982insA" "" "VUS" "" "0000472435" "2" "55" "4" "128854136" "128854137" "ins" "0" "00011" "MFSD8_000011" "g.128854136_128854137insA" "" "{PMID:Aiello 2009:119177532}" "" "863+3_4insT" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127932981_127932982insA" "" "VUS" "" "0000472436" "1" "55" "4" "128854136" "128854137" "ins" "0" "00011" "MFSD8_000011" "g.128854136_128854137insA" "" "{PMID:Aiello 2009:119177532}" "" "863+3_4insT" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127932981_127932982insA" "" "VUS" "" "0000472437" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472438" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472439" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472440" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472441" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472442" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472443" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472444" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472445" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472446" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472447" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472448" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472449" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472450" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472451" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472452" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472453" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472454" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472455" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Aiello 2009:119177532}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472456" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472457" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472458" "2" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472459" "3" "75" "4" "128851955" "128851955" "subst" "4.09182E-6" "00011" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Kousi 2009:119201763} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000472460" "3" "55" "4" "128851942" "128851942" "subst" "4.07687E-6" "00011" "MFSD8_000003" "g.128851942A>C" "" "{PMID:Siintola 2007:117564970}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930787A>C" "" "VUS" "" "0000472461" "3" "75" "4" "128851907" "128851907" "subst" "0" "00011" "MFSD8_000004" "g.128851907C>T" "" "{PMID:Siintola 2007:117564970} {PMID:Topcu 2004:15074367} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930752C>T" "" "likely pathogenic" "" "0000472462" "1" "75" "4" "128851907" "128851907" "subst" "0" "00011" "MFSD8_000004" "g.128851907C>T" "" "{PMID:Aiello 2009:119177532}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127930752C>T" "" "likely pathogenic" "" "0000472463" "3" "75" "4" "128851907" "128851907" "subst" "0" "00011" "MFSD8_000004" "g.128851907C>T" "" "{PMID:Siintola 2007:117564970} {PMID:Topcu 2004:15074367} {PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127930752C>T" "" "likely pathogenic" "" "0000472464" "1" "15" "4" "128843028" "128843028" "subst" "0" "00011" "MFSD8_000023" "g.128843028T>G" "0.05" "{PMID:Aiello 2009:119177532}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921873T>G" "" "benign" "" "0000472465" "1" "55" "4" "128843028" "128843028" "subst" "0" "00011" "MFSD8_000023" "g.128843028T>C" "0.05" "{PMID:Aiello 2009:119177532}" "" "Lys363Lys" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921873T>C" "" "VUS" "" "0000472466" "3" "75" "4" "128843015" "128843015" "subst" "0" "00011" "MFSD8_000005" "g.128843015C>G" "" "{PMID:Siintola 2007:117564970}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921860C>G" "" "likely pathogenic" "" "0000472467" "2" "55" "4" "128842928" "128842928" "del" "0" "00011" "MFSD8_000019" "g.128842928del" "" "{PMID:Kousi 2009:119201763}" "" "1103-2delA" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127921773del" "" "VUS" "" "0000472468" "1" "55" "4" "128842888" "128842888" "subst" "4.0626E-6" "00011" "MFSD8_000012" "g.128842888C>A" "" "{PMID:Aiello 2009:119177532}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127921733C>A" "" "VUS" "" "0000472469" "3" "75" "4" "128842794" "128842794" "subst" "1.62504E-5" "00011" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Aldahmesh 2009:119277732}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921639G>A" "" "likely pathogenic" "" "0000472470" "3" "75" "4" "128842794" "128842794" "subst" "1.62504E-5" "00011" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Aldahmesh 2009:119277732}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921639G>A" "" "likely pathogenic" "" "0000472471" "3" "75" "4" "128842794" "128842794" "subst" "1.62504E-5" "00011" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Aldahmesh 2009:119277732}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921639G>A" "" "likely pathogenic" "" "0000472472" "3" "75" "4" "128842794" "128842794" "subst" "1.62504E-5" "00011" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921639G>A" "" "likely pathogenic" "" "0000472473" "3" "75" "4" "128842743" "128842743" "subst" "4.06263E-6" "00011" "MFSD8_000006" "g.128842743C>T" "" "{PMID:Siintola 2007:117564970}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921588C>T" "" "likely pathogenic" "" "0000472474" "3" "75" "4" "128842689" "128842689" "subst" "0" "00011" "MFSD8_000014" "g.128842689G>A" "" "{PMID:Aiello 2009:119177532}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127921534G>A" "" "likely pathogenic" "" "0000472475" "2" "75" "4" "128841969" "128841969" "subst" "0" "00011" "MFSD8_000030" "g.128841969G>T" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127920814G>T" "" "likely pathogenic" "" "0000472476" "3" "75" "4" "128841949" "128841949" "subst" "8.13087E-6" "00011" "MFSD8_000009" "g.128841949G>A" "" "{PMID:Kousi 2009:119201763}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127920794G>A" "" "likely pathogenic" "" "0000472477" "2" "75" "4" "128841948" "128841948" "subst" "0" "00011" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Kousi 2012:121990111}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127920793C>T" "" "likely pathogenic" "" "0000472478" "3" "15" "4" "128841934" "128841934" "subst" "8.12625E-6" "00011" "MFSD8_000031" "g.128841934T>C" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127920779T>C" "" "benign" "" "0000472479" "3" "55" "4" "128841922" "128841922" "subst" "0" "00011" "MFSD8_000033" "g.128841922G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127920767G>A" "" "VUS" "" "0000472480" "2" "55" "4" "128841898" "128841898" "subst" "1.62508E-5" "00011" "MFSD8_000013" "g.128841898G>A" "" "{PMID:Aiello 2009:119177532}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.127920743G>A" "" "VUS" "" "0000472481" "3" "55" "4" "128841898" "128841898" "subst" "1.62508E-5" "00011" "MFSD8_000013" "g.128841898G>A" "" "{PMID:Kousi 2012:121990111}" "" "" "{NMPD}" "Unknown" "" "" "0" "" "" "g.127920743G>A" "" "VUS" "" "0000521650" "0" "10" "4" "128842742" "128842742" "subst" "0.000158441" "02330" "C4orf29_000001" "g.128842742G>A" "" "" "" "MFSD8(NM_152778.4):c.1287C>T (p.G429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921587G>A" "" "benign" "" "0000521651" "0" "50" "4" "128842743" "128842743" "subst" "4.06263E-6" "01943" "MFSD8_000006" "g.128842743C>T" "" "" "" "MFSD8(NM_152778.2):c.1286G>A (p.G429D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921588C>T" "" "VUS" "" "0000521652" "0" "50" "4" "128842824" "128842824" "subst" "6.90653E-5" "02330" "C4orf29_000002" "g.128842824G>A" "" "" "" "MFSD8(NM_152778.2):c.1205C>T (p.S402L), MFSD8(NM_152778.4):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921669G>A" "" "VUS" "" "0000521653" "0" "50" "4" "128842824" "128842824" "subst" "6.90653E-5" "02325" "C4orf29_000002" "g.128842824G>A" "" "" "" "MFSD8(NM_152778.2):c.1205C>T (p.S402L), MFSD8(NM_152778.4):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921669G>A" "" "VUS" "" "0000521654" "0" "30" "4" "128842860" "128842860" "subst" "4.06253E-6" "01804" "C4orf29_000003" "g.128842860G>A" "" "" "" "MFSD8(NM_152778.2):c.1169C>T (p.(Pro390Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921705G>A" "" "likely benign" "" "0000521655" "0" "50" "4" "128843056" "128843056" "subst" "8.12506E-6" "01943" "C4orf29_000004" "g.128843056A>G" "" "" "" "MFSD8(NM_152778.2):c.1061T>C (p.L354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921901A>G" "" "VUS" "" "0000521656" "0" "10" "4" "128843076" "128843076" "subst" "0.00071908" "01943" "C4orf29_000005" "g.128843076T>C" "" "" "" "MFSD8(NM_152778.2):c.1041A>G (p.V347=), MFSD8(NM_152778.3):c.1041A>G (p.V347=), MFSD8(NM_152778.4):c.1041A>G (p.V347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921921T>C" "" "benign" "" "0000521657" "0" "10" "4" "128843076" "128843076" "subst" "0.00071908" "02326" "C4orf29_000005" "g.128843076T>C" "" "" "" "MFSD8(NM_152778.2):c.1041A>G (p.V347=), MFSD8(NM_152778.3):c.1041A>G (p.V347=), MFSD8(NM_152778.4):c.1041A>G (p.V347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921921T>C" "" "benign" "" "0000521662" "0" "30" "4" "128851905" "128851905" "subst" "2.03145E-5" "01943" "C4orf29_000006" "g.128851905T>C" "" "" "" "MFSD8(NM_152778.2):c.931A>G (p.I311V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127930750T>C" "" "likely benign" "" "0000521664" "0" "90" "4" "128854139" "128854139" "subst" "4.06742E-6" "01804" "MFSD8_000056" "g.128854139C>T" "" "" "" "MFSD8(NM_152778.2):c.863+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127932984C>T" "" "pathogenic" "" "0000521665" "0" "30" "4" "128859942" "128859942" "subst" "0" "01943" "C4orf29_000008" "g.128859942T>C" "" "" "" "MFSD8(NM_152778.2):c.750A>G (p.E250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127938787T>C" "" "likely benign" "" "0000521666" "0" "70" "4" "128865037" "128865037" "subst" "6.5028E-5" "01804" "C4orf29_000009" "g.128865037T>A" "" "" "" "MFSD8(NM_152778.2):c.309A>T (p.(Arg103Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127943882T>A" "" "likely pathogenic" "" "0000521667" "0" "30" "4" "128865069" "128865069" "subst" "1.62573E-5" "01943" "C4orf29_000010" "g.128865069T>C" "" "" "" "MFSD8(NM_152778.2):c.277A>G (p.I93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127943914T>C" "" "likely benign" "" "0000521668" "0" "10" "4" "128865155" "128865155" "subst" "0.00112449" "01943" "MFSD8_000036" "g.128865155A>G" "" "" "" "MFSD8(NM_152778.2):c.199-8T>C, MFSD8(NM_152778.3):c.199-8T>C, MFSD8(NM_152778.4):c.199-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127944000A>G" "" "benign" "" "0000521669" "0" "10" "4" "128878744" "128878744" "subst" "0.00223325" "01943" "MFSD8_000038" "g.128878744T>A" "" "" "" "MFSD8(NM_152778.2):c.66A>T (p.E22D), MFSD8(NM_152778.3):c.66A>T (p.E22D), MFSD8(NM_152778.4):c.66A>T (p.E22D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127957589T>A" "" "benign" "" "0000521670" "0" "30" "4" "128886230" "128886230" "subst" "4.07681E-6" "01804" "C4orf29_000011" "g.128886230C>T" "" "" "" "MFSD8(NM_152778.2):c.59G>A (p.(Ser20Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127965075C>T" "" "likely benign" "" "0000521671" "0" "30" "4" "128886238" "128886238" "subst" "8.14491E-6" "01943" "C4orf29_000012" "g.128886238T>G" "" "" "" "MFSD8(NM_152778.2):c.51A>C (p.T17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127965083T>G" "" "likely benign" "" "0000609075" "0" "50" "4" "128841897" "128841897" "subst" "4.0625E-6" "02325" "C4orf29_000013" "g.128841897C>G" "" "" "" "MFSD8(NM_152778.4):c.1445G>C (p.R482P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127920742C>G" "" "VUS" "" "0000651402" "1" "30" "4" "128842761" "128842761" "subst" "0.0649572" "03575" "MFSD8_000058" "g.128842761G>A" "136/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "136 heterozygous; {DB:CLININrs3733319}" "Germline" "" "rs3733319" "0" "" "" "g.127921606G>A" "" "likely benign" "" "0000651403" "1" "50" "4" "128865003" "128865003" "subst" "8.12869E-5" "03575" "MFSD8_000059" "g.128865003C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183450731}" "Germline" "" "rs183450731" "0" "" "" "g.127943848C>T" "" "VUS" "" "0000655097" "0" "90" "4" "128842888" "128842888" "subst" "4.0626E-6" "01943" "MFSD8_000012" "g.128842888C>A" "" "" "" "MFSD8(NM_152778.2):c.1141G>T (p.E381*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127921733C>A" "" "pathogenic" "" "0000669799" "3" "30" "4" "128842761" "128842761" "subst" "0.0649572" "03575" "MFSD8_000058" "g.128842761G>A" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs3733319}" "Germline" "" "rs3733319" "0" "" "" "g.127921606G>A" "" "likely benign" "" "0000677194" "0" "10" "4" "128842718" "128842718" "subst" "0.00203549" "02326" "MFSD8_000048" "g.128842718G>C" "" "" "" "MFSD8(NM_152778.3):c.1311C>G (p.S437=), MFSD8(NM_152778.4):c.1311C>G (p.S437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677195" "0" "50" "4" "128861068" "128861068" "subst" "0" "02330" "C4orf29_000014" "g.128861068G>A" "" "" "" "MFSD8(NM_152778.4):c.638C>T (p.P213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677196" "0" "50" "4" "128878695" "128878695" "subst" "3.66101E-5" "01943" "C4orf29_000015" "g.128878695T>A" "" "" "" "MFSD8(NM_152778.2):c.115A>T (p.I39F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677197" "0" "50" "4" "128878706" "128878706" "subst" "8.13531E-6" "02330" "C4orf29_000016" "g.128878706C>T" "" "" "" "MFSD8(NM_152778.4):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683463" "3" "70" "4" "128842704" "128842704" "subst" "4.06365E-6" "03765" "MFSD8_000060" "g.128842704G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683464" "3" "70" "4" "128870957" "128870957" "subst" "0" "03765" "MFSD8_000045" "g.128870957A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683465" "3" "50" "4" "128854162" "128854162" "subst" "0" "03765" "MFSD8_000061" "g.128854162A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000683562" "3" "90" "4" "128841973" "128841988" "del" "0" "00006" "MFSD8_000062" "g.128841973_128841988del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1, PP1, PM2" "Germline" "" "" "0" "" "" "g.127920818_127920833del" "" "pathogenic (recessive)" "ACMG" "0000689233" "0" "30" "4" "128841934" "128841934" "subst" "8.12625E-6" "01943" "MFSD8_000031" "g.128841934T>C" "" "" "" "MFSD8(NM_152778.2):c.1408A>G (p.M470V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689234" "0" "70" "4" "128842710" "128842710" "del" "0" "01943" "C4orf29_000017" "g.128842710del" "" "" "" "MFSD8(NM_152778.2):c.1319delT (p.L440Hfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689235" "0" "50" "4" "128842756" "128842756" "subst" "0" "01943" "C4orf29_000018" "g.128842756G>C" "" "" "" "MFSD8(NM_152778.2):c.1273C>G (p.L425V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689236" "0" "30" "4" "128878732" "128878732" "subst" "1.63046E-5" "01943" "C4orf29_000019" "g.128878732T>C" "" "" "" "MFSD8(NM_152778.2):c.78A>G (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699987" "11" "90" "4" "128843015" "128843015" "subst" "0" "00006" "MFSD8_000005" "g.128843015C>G" "" "{PMID:Kim 2019:31597037}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000699988" "21" "90" "4" "128861998" "128861999" "ins" "0" "00006" "MFSD8_000063" "g.128861998_128861999insN[(1950_2050)]" "" "{PMID:Kim 2019:31597037}" "" "" "splice-modulating antisense oligonucleotide treatment" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713452" "3" "90" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Carss 2017:28041643}" "" "4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713468" "3" "90" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Carss 2017:28041643}" "" "4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713572" "3" "90" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Carss 2017:28041643}" "" "4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713634" "3" "90" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Carss 2017:28041643}" "" "4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719754" "0" "50" "4" "128843015" "128843015" "subst" "0" "02329" "MFSD8_000005" "g.128843015C>G" "" "" "" "MFSD8(NM_152778.4):c.1102G>C (p.D368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719756" "0" "30" "4" "128851960" "128851960" "subst" "8.17768E-6" "01943" "C4orf29_000020" "g.128851960T>C" "" "" "" "MFSD8(NM_152778.2):c.876A>G (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719757" "0" "10" "4" "128851987" "128851987" "dup" "0" "02330" "C4orf29_000021" "g.128851987dup" "" "" "" "MFSD8(NM_152778.4):c.864-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000733162" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000733602" "2" "70" "4" "128863195" "128863195" "subst" "0" "00000" "MFSD8_000064" "g.128863195C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS6+5G>A" "" "Germline" "" "" "0" "" "" "g.127942040C>T" "" "likely pathogenic" "" "0000735698" "1" "90" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.127921956C>G" "" "pathogenic" "" "0000735795" "2" "90" "4" "128843015" "128843015" "subst" "0" "00000" "MFSD8_000005" "g.128843015C>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.127921860C>G" "" "pathogenic" "" "0000763227" "3" "90" "4" "128878707" "128878707" "subst" "8.13762E-6" "00006" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.127957552G>A" "" "pathogenic" "ACMG" "0000786940" "3" "90" "4" "128865129" "128865129" "dup" "0" "00006" "MFSD8_000069" "g.128865129dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.217dupA" "" "Germline" "" "" "0" "" "" "g.127943974dup" "{CV-RCV:000188195.1}" "pathogenic" "" "0000786941" "3" "70" "4" "128861117" "128861117" "dup" "0" "00006" "MFSD8_000068" "g.128861117dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.590dupG" "" "Germline" "" "" "0" "" "" "g.127939962dup" "" "likely pathogenic" "" "0000786942" "3" "70" "4" "128861012" "128861012" "del" "0" "00006" "MFSD8_000067" "g.128861012del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.694delC" "" "Germline" "" "" "0" "" "" "g.127939857del" "" "likely pathogenic" "" "0000786943" "3" "70" "4" "128859994" "128859994" "subst" "0" "00006" "MFSD8_000066" "g.128859994C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.127938839C>T" "" "likely pathogenic" "" "0000786944" "3" "70" "4" "128842691" "128842691" "del" "0" "00006" "MFSD8_000065" "g.128842691del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1338delA" "" "Germline" "" "" "0" "" "" "g.127921536del" "" "likely pathogenic" "" "0000794718" "0" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.1006G>C; p.E336Q" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000794719" "0" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.1006G>C; p.E336Q" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000797095" "3" "50" "4" "128841897" "128841897" "subst" "4.0625E-6" "00000" "C4orf29_000013" "g.128841897C>G" "" "{PMID:Birtel 2018:30543658}" "" "c.1445G>C, p.Arg482Pro" "Homozygous" "Germline" "yes" "rs547726489" "0" "" "" "g.127920742C>G" "" "VUS" "ACMG" "0000801516" "0" "50" "4" "128842824" "128842824" "subst" "6.90653E-5" "01943" "C4orf29_000002" "g.128842824G>A" "" "" "" "MFSD8(NM_152778.2):c.1205C>T (p.S402L), MFSD8(NM_152778.4):c.1205C>T (p.S402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811472" "3" "70" "4" "128843051" "128843051" "subst" "1.62518E-5" "00000" "MFSD8_000071" "g.128843051G>T" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.1066C>A, p.Pro356Thr" "Homozygous" "Germline" "?" "" "0" "" "" "g.127921896G>T" "" "likely pathogenic" "ACMG" "0000811473" "3" "70" "4" "128878748" "128878748" "subst" "0" "00000" "MFSD8_000075" "g.128878748C>T" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.63-1G>A, Not known" "Homozygous" "Germline" "?" "" "0" "" "" "g.127957593C>T" "" "likely pathogenic" "ACMG" "0000811474" "0" "50" "4" "128878674" "128878674" "subst" "1.22042E-5" "00000" "MFSD8_000074" "g.128878674T>C" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.136A>G" "single heterozygous" "Germline" "?" "" "0" "" "" "g.127957519T>C" "" "VUS" "ACMG" "0000812853" "0" "70" "4" "128841898" "128841898" "subst" "1.62508E-5" "00000" "MFSD8_000013" "g.128841898G>A" "" "{PMID:Surl 2020:32165824}" "" "4 compound heterozygous AR MFSD8 c.1444C>T (Aiello et al., 2009) p.(R482X) c.554-5A>G aberrant splicing of Exon7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920743G>A" "" "likely pathogenic" "" "0000812856" "0" "70" "4" "128861157" "128861157" "subst" "0" "00000" "MFSD8_000073" "g.128861157T>C" "" "{PMID:Surl 2020:32165824}" "" "4 compound heterozygous AR MFSD8 c.1444C>T (Aiello et al., 2009) p.(R482X) c.554-5A>G aberrant splicing of Exon7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127940002T>C" "" "likely pathogenic" "" "0000812888" "3" "70" "4" "128859936" "128859936" "subst" "8.14094E-6" "00000" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Jilani 2019:31741823}" "" "c.754+2T>A" "homozygous" "Germline" "?" "" "0" "" "" "g.127938781A>T" "" "likely pathogenic" "" "0000812889" "3" "70" "4" "128842789" "128842790" "ins" "0" "00000" "MFSD8_000070" "g.128842789_128842790insTCAT" "" "{PMID:Jilani 2019:31741823}" "" "c.1241_1242insGAAT, p.(Ile414Metfs*109)" "homozygous" "Germline" "?" "" "0" "" "" "g.127921634_127921635insTCAT" "" "likely pathogenic" "" "0000812890" "3" "70" "4" "128841948" "128841948" "subst" "0" "00000" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Jilani 2019:31741823}" "" "c.1394G>A, p.(Arg465Gln)" "homozygous" "Germline" "?" "" "0" "" "" "g.127920793C>T" "" "likely pathogenic" "" "0000812891" "3" "70" "4" "128851955" "128851955" "subst" "4.09182E-6" "00000" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Jilani 2019:31741823}" "" "c.881C>A, p.(Thr294Lys)" "homozygous" "Germline" "?" "" "0" "" "" "g.127930800G>T" "" "likely pathogenic" "" "0000812892" "3" "70" "4" "128864930" "128864930" "subst" "4.06484E-6" "00000" "MFSD8_000017" "g.128864930C>T" "" "{PMID:Jilani 2019:31741823}" "" "c.416G>A, p.(Arg139His)" "homozygous" "Germline" "?" "" "0" "" "" "g.127943775C>T" "" "likely pathogenic" "" "0000812893" "3" "70" "4" "128854136" "128854136" "subst" "1.6267E-5" "00000" "MFSD8_000072" "g.128854136T>C" "" "{PMID:Jilani 2019:31741823}" "" "c.863+4A>G" "homozygous" "Germline" "?" "" "0" "" "" "g.127932981T>C" "" "likely pathogenic" "" "0000816152" "0" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "MFSD8 c.1361T>C, p.Met454Thr" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000816460" "0" "70" "4" "128886287" "128886287" "subst" "0" "00000" "MFSD8_000014" "g.128886287A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.2T>C, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.127965132A>G" "" "likely pathogenic" "" "0000818615" "3" "70" "4" "128863228" "128863228" "subst" "0" "00000" "MFSD8_000076" "g.128863228A>T" "" "{PMID:Kozina 2020:32412666}" "" "c.525T>A, (p.Cys175*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.127942073A>T" "" "likely pathogenic" "" "0000821297" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Turro 2020:32581362}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000821298" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Turro 2020:32581362}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000821299" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Turro 2020:32581362}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000821300" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Turro 2020:32581362}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000822420" "0" "70" "4" "128861036" "128861036" "subst" "0" "00000" "MFSD8_000077" "g.128861036T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.670A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822421" "0" "70" "4" "128861036" "128861036" "subst" "0" "00000" "MFSD8_000077" "g.128861036T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.670A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822441" "0" "70" "4" "128859936" "128859936" "subst" "8.14094E-6" "00000" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Maggi_2021:33546218}" "" "c.754+2T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822442" "0" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.1006G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822456" "0" "70" "4" "128861036" "128861036" "subst" "0" "00000" "MFSD8_000077" "g.128861036T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.670A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822457" "0" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.1006G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000850526" "0" "50" "4" "128878674" "128878674" "subst" "1.22042E-5" "01943" "MFSD8_000074" "g.128878674T>C" "" "" "" "MFSD8(NM_152778.2):c.136A>G (p.M46V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859244" "0" "30" "4" "128886284" "128886284" "subst" "0" "01943" "C4orf29_000022" "g.128886284G>A" "" "" "" "MFSD8(NM_152778.2):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874735" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874736" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874737" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874738" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874739" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874740" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "9/4190 alleles, in-house exome database; 1 of 302 (0.3%) alleles of healthy ethnically matched control individuals" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M1 (c.1006G>C; p.Glu336Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874741" "21" "70" "4" "128842888" "128842888" "subst" "4.0626E-6" "00000" "MFSD8_000012" "g.128842888C>A" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M2 (c.1141G>T; p.Glu381*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921733C>A" "" "likely pathogenic" "" "0000874742" "21" "70" "4" "128842888" "128842888" "subst" "4.0626E-6" "00000" "MFSD8_000012" "g.128842888C>A" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M2 (c.1141G>T; p.Glu381*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921733C>A" "" "likely pathogenic" "" "0000874743" "21" "70" "4" "128842888" "128842888" "subst" "4.0626E-6" "00000" "MFSD8_000012" "g.128842888C>A" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M2 (c.1141G>T; p.Glu381*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921733C>A" "" "likely pathogenic" "" "0000874744" "21" "70" "4" "128842888" "128842888" "subst" "4.0626E-6" "00000" "MFSD8_000012" "g.128842888C>A" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M2 (c.1141G>T; p.Glu381*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921733C>A" "" "likely pathogenic" "" "0000874745" "21" "70" "4" "128842888" "128842888" "subst" "4.0626E-6" "00000" "MFSD8_000012" "g.128842888C>A" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M2 (c.1141G>T; p.Glu381*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921733C>A" "" "likely pathogenic" "" "0000874746" "2" "70" "4" "128843015" "128843015" "subst" "0" "00000" "MFSD8_000005" "g.128843015C>G" "0/4190 alleles, in-house exome database" "{PMID:Roosing 2015:25227500}" "" "MFSD8 M3 (c.1102G>C; p.Lys333Lysfs*3)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921860C>G" "" "likely pathogenic" "" "0000874747" "3" "70" "4" "128863281" "128863281" "subst" "0" "00000" "MFSD8_000080" "g.128863281C>T" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.472G>A (p.Gly158Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942126C>T" "" "likely pathogenic" "" "0000874748" "3" "70" "4" "128863281" "128863281" "subst" "0" "00000" "MFSD8_000080" "g.128863281C>T" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.472G>A (p.Gly158Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942126C>T" "" "likely pathogenic" "" "0000874749" "3" "70" "4" "128863281" "128863281" "subst" "0" "00000" "MFSD8_000080" "g.128863281C>T" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.472G>A (p.Gly158Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942126C>T" "" "likely pathogenic" "" "0000874750" "3" "70" "4" "128863281" "128863281" "subst" "0" "00000" "MFSD8_000080" "g.128863281C>T" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.472G>A (p.Gly158Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942126C>T" "" "likely pathogenic" "" "0000874751" "3" "70" "4" "128863281" "128863281" "subst" "0" "00000" "MFSD8_000080" "g.128863281C>T" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.472G>A (p.Gly158Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942126C>T" "" "likely pathogenic" "" "0000874752" "1" "70" "4" "128842810" "128842810" "subst" "0" "00000" "MFSD8_000079" "g.128842810A>G" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.1219T>C (p.Trp407Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921655A>G" "" "likely pathogenic" "" "0000874753" "1" "70" "4" "128842810" "128842810" "subst" "0" "00000" "MFSD8_000079" "g.128842810A>G" "" "{PMID:Mandel 2014:25270050}" "" "MFSD8 c.1219T>C (p.Trp407Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921655A>G" "" "likely pathogenic" "" "0000874754" "2" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Patino 2014:25333361}" "" "MFSD8 c.1361T>C (p.Met454Thr)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874755" "2" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Patino 2014:25333361}" "" "MFSD8 c.1361T>C (p.Met454Thr)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874756" "21" "90" "4" "128851955" "128851955" "subst" "4.09182E-6" "00000" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Craiu 2015:25439737}" "" "MFSD8 c.881C > A p.Thr294Lys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127930800G>T" "" "pathogenic" "" "0000874757" "11" "90" "4" "128859936" "128859936" "subst" "8.14094E-6" "00000" "MFSD8_000002" "g.128859936A>T" "" "{PMID:Craiu 2015:25439737}" "" "MFSD8 c.754 + 2T > A" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127938781A>T" "" "pathogenic" "" "0000874762" "0" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874763" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874764" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874765" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874766" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874767" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874768" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874769" "3" "70" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1361T>C, p.Met454Thr" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "likely pathogenic" "" "0000874770" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874771" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874772" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874773" "1" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874774" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874775" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874776" "11" "70" "4" "128843111" "128843111" "subst" "0.00245764" "00000" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1006G>C, p.Glu336Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921956C>G" "" "likely pathogenic" "" "0000874777" "0" "70" "4" "128878707" "128878707" "subst" "8.13762E-6" "00000" "MFSD8_000007" "g.128878707G>A" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.103C>T, p.Arg35Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.127957552G>A" "" "likely pathogenic" "" "0000874778" "2" "70" "4" "128841948" "128841948" "subst" "0" "00000" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1394G>A, p.Arg465Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920793C>T" "" "likely pathogenic" "" "0000874779" "2" "70" "4" "128841948" "128841948" "subst" "0" "00000" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1394G>A, p.Arg465Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920793C>T" "" "likely pathogenic" "" "0000874780" "2" "70" "4" "128841948" "128841948" "subst" "0" "00000" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.1394G>A, p.Arg465Gln" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920793C>T" "" "likely pathogenic" "" "0000874781" "2" "70" "4" "128865113" "128865113" "subst" "0" "00000" "MFSD8_000081" "g.128865113C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.233G>A, p.Trp78Ter" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127943958C>T" "" "likely pathogenic" "" "0000874782" "21" "70" "4" "128865113" "128865113" "subst" "0" "00000" "MFSD8_000081" "g.128865113C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.233G>A, p.Trp78Ter" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127943958C>T" "" "likely pathogenic" "" "0000874783" "21" "70" "4" "128865113" "128865113" "subst" "0" "00000" "MFSD8_000081" "g.128865113C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.233G>A, p.Trp78Ter" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127943958C>T" "" "likely pathogenic" "" "0000874784" "21" "70" "4" "128865113" "128865113" "subst" "0" "00000" "MFSD8_000081" "g.128865113C>T" "" "{PMID:Khan 2017:28586915}" "" "MFSD8 c.233G>A, p.Trp78Ter" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127943958C>T" "" "likely pathogenic" "" "0000874785" "3" "70" "4" "128863228" "128863228" "subst" "0" "00000" "MFSD8_000076" "g.128863228A>T" "" "{PMID:Kozina 2018:30144815}" "" "MFSD8 c.525T>A, p.Cys175Ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.127942073A>T" "" "likely pathogenic" "" "0000874786" "3" "70" "4" "128865010" "128865024" "del" "0" "00000" "MFSD8_000078" "g.128865010_128865024del" "" "{PMID:Hosseini Bereshneh 2018:30249282}" "" "MFSD8 c.325_339del (p.Val109_Ile113del)" "homozygous" "Germline" "yes" "" "0" "" "" "g.127943855_127943869del" "" "likely pathogenic" "" "0000874803" "1" "50" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1361T>C; p.M454T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "VUS" "" "0000874804" "1" "50" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1361T>C; p.M454T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "VUS" "" "0000874805" "1" "50" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1361T>C; p.M454T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "VUS" "" "0000874806" "3" "50" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1361T>C; p.M454T" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "VUS" "" "0000874807" "3" "50" "4" "128841981" "128841981" "subst" "0.000114155" "00000" "MFSD8_000042" "g.128841981A>G" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1361T>C; p.M454T" "homozygous" "Germline" "yes" "" "0" "" "" "g.127920826A>G" "" "VUS" "" "0000874808" "2" "90" "4" "128842794" "128842794" "subst" "1.62504E-5" "00000" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1235C>T; p.P412L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921639G>A" "" "pathogenic" "" "0000874809" "2" "90" "4" "128842794" "128842794" "subst" "1.62504E-5" "00000" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1235C>T; p.P412L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921639G>A" "" "pathogenic" "" "0000874810" "2" "90" "4" "128842794" "128842794" "subst" "1.62504E-5" "00000" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Zare-Abdollahi 2019:31006324}" "" "MFSD8 c.1235C>T; p.P412L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127921639G>A" "" "pathogenic" "" "0000874811" "3" "70" "4" "128842794" "128842794" "subst" "1.62504E-5" "00000" "MFSD8_000024" "g.128842794G>A" "" "{PMID:Magliyah 2019:31909682}" "" "MFSD8 c.1235C>T; p.P412L" "homozygous" "Germline" "yes" "" "0" "" "" "g.127921639G>A" "" "likely pathogenic" "" "0000886135" "0" "70" "4" "128841981" "128841981" "subst" "0.000114155" "02330" "MFSD8_000042" "g.128841981A>G" "" "" "" "MFSD8(NM_152778.4):c.1361T>C (p.M454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886136" "0" "30" "4" "128863180" "128863180" "subst" "0.00193034" "02330" "MFSD8_000035" "g.128863180G>A" "" "" "" "MFSD8(NM_152778.3):c.553+20C>T, MFSD8(NM_152778.4):c.553+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886137" "0" "70" "4" "128865087" "128865087" "subst" "0" "02327" "MFSD8_000020" "g.128865087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886138" "0" "30" "4" "128865155" "128865155" "subst" "0.00112449" "02330" "MFSD8_000036" "g.128865155A>G" "" "" "" "MFSD8(NM_152778.2):c.199-8T>C, MFSD8(NM_152778.3):c.199-8T>C, MFSD8(NM_152778.4):c.199-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000900025" "0" "70" "4" "128864904" "128864904" "subst" "0" "00000" "MFSD8_000083" "g.128864904T>G" "" "{PMID:Bauwens 2020:31721179}" "" "MFSD8 c.439+3A>C (p.Ile67Glufs*3)" "heterozygous; variant via splice assays showed exon 5 skipping" "Germline" "yes" "" "0" "" "" "g.127943749T>G" "" "likely pathogenic (recessive)" "" "0000900026" "0" "70" "4" "128861117" "128861117" "del" "0" "00000" "MFSD8_000082" "g.128861117del" "" "{PMID:Bauwens 2020:31721179}" "" "MFSD8 c.590del (p.Gly197Valfs*2)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.127939962del" "" "likely pathogenic (recessive)" "" "0000920217" "3" "70" "4" "128861068" "128861068" "subst" "0" "04178" "MFSD8_000084" "g.128861068G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "other" "0000948261" "0" "30" "4" "128843076" "128843076" "subst" "0.00071908" "02330" "C4orf29_000005" "g.128843076T>C" "" "" "" "MFSD8(NM_152778.2):c.1041A>G (p.V347=), MFSD8(NM_152778.3):c.1041A>G (p.V347=), MFSD8(NM_152778.4):c.1041A>G (p.V347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948262" "0" "30" "4" "128878744" "128878744" "subst" "0.00223325" "02330" "MFSD8_000038" "g.128878744T>A" "" "" "" "MFSD8(NM_152778.2):c.66A>T (p.E22D), MFSD8(NM_152778.3):c.66A>T (p.E22D), MFSD8(NM_152778.4):c.66A>T (p.E22D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958265" "0" "90" "4" "128859942" "128859942" "subst" "0" "00006" "C4orf29_000008" "g.128859942T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PS3, PP1_STRONG" "Germline" "" "" "0" "" "" "g.127938787T>C" "" "pathogenic (recessive)" "ACMG" "0000958266" "0" "90" "4" "128859942" "128859942" "subst" "0" "00006" "C4orf29_000008" "g.128859942T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PS3, PP1_STRONG" "Germline" "" "" "0" "" "" "g.127938787T>C" "" "pathogenic (recessive)" "ACMG" "0000958880" "0" "50" "4" "128842764" "128842764" "subst" "0" "00006" "MFSD8_000086" "g.128842764G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.127921609G>A" "" "VUS" "ACMG" "0000958902" "0" "50" "4" "128655509" "128962678" "dup" "0" "00006" "MFSD8_000085" "g.128655509_128962678dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000959319" "0" "50" "4" "128841897" "128841897" "subst" "4.0625E-6" "00006" "C4orf29_000013" "g.128841897C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.127920742C>G" "" "VUS" "ACMG" "0000959335" "0" "50" "4" "128854183" "128854183" "subst" "4.0623E-6" "00006" "MFSD8_000087" "g.128854183C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.127933028C>T" "" "VUS" "ACMG" "0000963020" "0" "30" "4" "128851987" "128851987" "dup" "0" "02329" "C4orf29_000021" "g.128851987dup" "" "" "" "MFSD8(NM_152778.4):c.864-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986460" "1" "50" "4" "128843111" "128843111" "subst" "0.00245764" "04405" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.127921956C>G" "" "VUS" "ACMG" "0000986461" "3" "50" "4" "128878706" "128878706" "subst" "8.13531E-6" "04405" "C4orf29_000016" "g.128878706C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.127957551C>T" "" "VUS" "ACMG" "0000986462" "1" "70" "4" "128886286" "128886286" "subst" "0" "04405" "MFSD8_000089" "g.128886286C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.127965131C>T" "" "likely pathogenic" "ACMG" "0000986463" "1" "50" "4" "128843111" "128843111" "subst" "0.00245764" "04405" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.127921956C>G" "" "VUS" "ACMG" "0000986935" "2" "50" "4" "128841964" "128841964" "subst" "0" "04405" "MFSD8_000088" "g.128841964A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "1387T>C (Ser463Pro)" "" "Germline" "" "" "0" "" "" "g.127920809A>G" "" "VUS" "ACMG" "0000986936" "2" "50" "4" "128843111" "128843111" "subst" "0.00245764" "04405" "MFSD8_000044" "g.128843111C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.127921956C>G" "" "VUS" "ACMG" "0000986937" "2" "50" "4" "128841964" "128841964" "subst" "0" "04405" "MFSD8_000088" "g.128841964A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "1388T>C (Ser463Pro)" "" "Germline" "" "" "0" "" "" "g.127920809A>G" "" "VUS" "ACMG" "0000987257" "0" "90" "4" "128854139" "128854139" "subst" "4.06742E-6" "00006" "MFSD8_000056" "g.128854139C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.127932984C>T" "" "pathogenic" "ACMG" "0001010126" "3" "90" "4" "128859942" "128859942" "subst" "0" "00006" "C4orf29_000008" "g.128859942T>C" "" "{PMID:Dekker 2023:36669495}" "" "" "skipping ex7 and 8; predicted to affect splice enhancer sites; confirmed by mini-gene exon trapping analysis" "Germline" "" "" "0" "" "" "g.127938787T>C" "" "pathogenic (recessive)" "" "0001011693" "3" "90" "4" "128878707" "128878707" "subst" "8.13762E-6" "04758" "MFSD8_000007" "g.128878707G>A" "0.00001613" "Venier 2024, submitted" "" "" "" "Germline" "yes" "rs749315686" "0" "" "" "g.127957552G>A" "{CV:846459}" "pathogenic (recessive)" "ACMG" "0001011694" "0" "90" "4" "128841948" "128841948" "subst" "0" "04758" "MFSD8_000032" "g.128841948C>T" "0.000005577" "Venier 2024, submitted" "" "" "" "Unknown" "?" "rs1275962600" "0" "" "" "g.127920793C>T" "{CV:983438}" "pathogenic (recessive)" "ACMG" "0001011695" "0" "70" "4" "128854136" "128854136" "subst" "1.6267E-5" "04758" "MFSD8_000072" "g.128854136T>C" "0.00001059" "Venier 2024, submitted" "" "" "" "Germline/De novo (untested)" "" "rs752035164" "0" "" "" "g.127932981T>C" "{CV:199189}" "likely pathogenic (recessive)" "ACMG" "0001011696" "3" "90" "4" "128878707" "128878707" "subst" "8.13762E-6" "04758" "MFSD8_000007" "g.128878707G>A" "0.00001613" "Venier 2024, submitted" "" "" "" "Germline" "yes" "rs749315686" "0" "" "" "g.127957552G>A" "{CV:846459}" "pathogenic (recessive)" "ACMG" "0001011697" "10" "90" "4" "128878707" "128878707" "subst" "8.13762E-6" "04758" "MFSD8_000007" "g.128878707G>A" "0.00001613" "Venier 2024, submitted" "" "" "" "Germline" "yes" "rs749315686" "0" "" "" "g.127957552G>A" "{CV:846459 }" "pathogenic (recessive)" "ACMG" "0001011698" "21" "90" "4" "128854139" "128854139" "subst" "4.06742E-6" "04758" "MFSD8_000056" "g.128854139C>T" "0.000008094" "Venier 2024, submitted" "" "" "" "Germline" "yes" "rs200319160" "0" "" "" "g.127932984C>T" "504888" "pathogenic (recessive)" "ACMG" "0001011729" "3" "90" "4" "128854136" "128854136" "subst" "1.6267E-5" "04758" "MFSD8_000072" "g.128854136T>C" "0.00001059" "Venier 2024, submitted" "" "" "" "Germline" "?" "rs752035164" "0" "" "" "g.127932981T>C" "{CV:199189}" "likely pathogenic (recessive)" "ACMG" "0001011955" "1" "90" "4" "128841948" "128841948" "subst" "0" "00006" "MFSD8_000032" "g.128841948C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.127920793C>T" "SUB7802895" "pathogenic (recessive)" "" "0001012007" "2" "90" "4" "128854136" "128854136" "subst" "1.6267E-5" "00006" "MFSD8_000072" "g.128854136T>C" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.127932981T>C" "RCV000180705.1" "pathogenic (recessive)" "" "0001012390" "3" "90" "4" "128851955" "128851955" "subst" "4.09182E-6" "00006" "MFSD8_000008" "g.128851955G>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.127930800G>T" "" "pathogenic (recessive)" "" "0001012417" "1" "50" "4" "128886239" "128886239" "subst" "0" "00006" "MFSD8_000090" "g.128886239G>C" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.127965084G>C" "" "VUS" "" "0001022246" "0" "70" "4" "128859942" "128859942" "subst" "0" "04796" "C4orf29_000008" "g.128859942T>C" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA exon skipping" "CLASSIFICATION record" "" "" "0" "" "" "g.127938787T>C" "" "likely pathogenic" "" "0001024891" "0" "90" "4" "128843015" "128843015" "subst" "0" "02327" "MFSD8_000005" "g.128843015C>G" "" "" "" "MFSD8(NM_152778.4):c.1102G>C (p.D368H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024892" "0" "50" "4" "128861116" "128861116" "subst" "0.000512145" "01943" "MFSD8_000034" "g.128861116C>T" "" "" "" "MFSD8(NM_152778.2):c.590G>A (p.G197D), MFSD8(NM_152778.3):c.590G>A (p.G197D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 MFSD8 ## Count = 292 "{{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}}" "0000130135" "00012078" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Gln206*)" "" "0000130254" "00012078" "70" "863" "1" "863" "1" "c.863+1G>A" "r.spl?" "p.?" "" "0000222309" "00012078" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "3" "0000222310" "00012078" "90" "63" "-4" "63" "-4" "c.63-4del" "r.spl?" "p.?" "2i" "0000222311" "00012078" "90" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482*)" "13" "0000252083" "00012078" "30" "199" "-8" "199" "-8" "c.199-8T>C" "r.(=)" "p.(=)" "" "0000279751" "00012078" "50" "1107" "0" "1107" "0" "c.1107G>C" "r.(?)" "p.(Leu369Phe)" "" "0000279752" "00012078" "10" "1311" "0" "1311" "0" "c.1311C>G" "r.(?)" "p.(Ser437=)" "" "0000279753" "00012078" "10" "1351" "-9" "1351" "-9" "c.1351-9C>T" "r.(=)" "p.(=)" "" "0000279754" "00012078" "10" "63" "-4" "63" "-4" "c.63-4del" "r.spl?" "p.?" "" "0000279755" "00012078" "50" "728" "0" "728" "0" "c.728A>G" "r.(?)" "p.(Gln243Arg)" "" "0000286569" "00012078" "10" "1153" "0" "1153" "0" "c.1153G>C" "r.(?)" "p.(Gly385Arg)" "" "0000286570" "00012078" "10" "1350" "110" "1350" "110" "c.1350+110C>A" "r.(=)" "p.(=)" "" "0000286571" "00012078" "10" "1351" "-9" "1351" "-9" "c.1351-9C>T" "r.(=)" "p.(=)" "" "0000286572" "00012078" "30" "553" "20" "553" "20" "c.553+20C>T" "r.(=)" "p.(=)" "" "0000286573" "00012078" "30" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Asp)" "" "0000286574" "00012078" "30" "66" "0" "66" "0" "c.66A>T" "r.(?)" "p.(Glu22Asp)" "" "0000286575" "00012078" "30" "754" "1277" "754" "1277" "c.754+1277A>C" "r.(=)" "p.(=)" "" "0000291778" "00012078" "30" "-75" "-1" "-75" "-1" "c.-75-1G>T" "r.spl?" "p.?" "" "0000291779" "00012078" "30" "-75" "-2" "-75" "-2" "c.-75-2A>C" "r.spl?" "p.?" "" "0000291780" "00012078" "30" "115" "0" "115" "0" "c.115A>G" "r.(?)" "p.(Ile39Val)" "" "0000291781" "00012078" "50" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Asp16His)" "" "0000330122" "00012078" "50" "-75" "-1" "-75" "-1" "c.-75-1G>T" "r.spl?" "p.?" "" "0000330123" "00012078" "50" "-75" "-2" "-75" "-2" "c.-75-2A>C" "r.spl?" "p.?" "" "0000347839" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000350873" "00012078" "90" "198" "2" "198" "2" "c.198+2T>C" "r.spl?" "p.?" "" "0000350874" "00012078" "90" "154" "1" "154" "1" "c.154+1G>A" "r.spl?" "p.?" "" "0000472395" "00012078" "35" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "2" "0000472397" "00012078" "55" "63" "-4" "63" "-4" "c.63-4del" "r.(?)" "p.(=)" "2i" "0000472398" "00012078" "55" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "3" "0000472399" "00012078" "55" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "3" "0000472400" "00012078" "55" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "3" "0000472401" "00012078" "55" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "3" "0000472402" "00012078" "75" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "3" "0000472403" "00012078" "55" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "5" "0000472404" "00012078" "55" "334" "0" "334" "0" "c.334T>C" "r.(?)" "p.(=)" "5" "0000472405" "00012078" "55" "334" "0" "334" "0" "c.334T>C" "r.(?)" "p.(=)" "5" "0000472406" "00012078" "75" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Tyr121Cys)" "5" "0000472407" "00012078" "75" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Tyr121Cys)" "5" "0000472408" "00012078" "75" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Tyr121Cys)" "5" "0000472409" "00012078" "75" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "5" "0000472410" "00012078" "75" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "5" "0000472411" "00012078" "75" "468" "0" "469" "0" "c.468_469delinsCC" "r.(?)" "p.(Ala157Pro)" "6" "0000472412" "00012078" "75" "479" "0" "479" "0" "c.479C>A" "r.(?)" "p.(Thr160Asn)" "6" "0000472413" "00012078" "75" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Thr160Ile)" "6" "0000472414" "00012078" "55" "554" "-1" "554" "-1" "c.554-1G>C" "r.spl" "p.(=)" "6" "0000472415" "00012078" "55" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Gly197Valfs*2)" "7" "0000472416" "00012078" "55" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Gly197Valfs*2)" "7" "0000472417" "00012078" "55" "627" "0" "643" "0" "c.627_643del" "r.(?)" "p.(Met209Ilefs*3)" "7" "0000472418" "00012078" "75" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Arg233Gly)" "7" "0000472419" "00012078" "55" "754" "1" "754" "1" "c.754+1G>A" "r.spl" "p.(=)" "8i" "0000472420" "00012078" "55" "754" "1" "754" "1" "c.754+1G>A" "r.spl" "p.(=)" "8i" "0000472421" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472422" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472423" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472424" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472425" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472426" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472427" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472428" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472429" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472430" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472431" "00012078" "55" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(=)" "8i" "0000472432" "00012078" "55" "863" "1" "863" "1" "c.863+1G>C" "r.spl" "p.(=)" "9i" "0000472433" "00012078" "55" "863" "1" "863" "1" "c.863+1G>C" "r.spl" "p.(=)" "9i" "0000472434" "00012078" "55" "863" "3" "863" "4" "c.863+3_863+4insT" "r.spl" "p.(=)" "9i" "0000472435" "00012078" "55" "863" "3" "863" "4" "c.863+3_863+4insT" "r.spl" "p.(=)" "9i" "0000472436" "00012078" "55" "863" "3" "863" "4" "c.863+3_863+4insT" "r.spl" "p.(=)" "9i" "0000472437" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472438" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472439" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472440" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472441" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472442" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472443" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472444" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472445" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472446" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472447" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472448" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472449" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472450" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472451" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472452" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472453" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472454" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472455" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472456" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472457" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472458" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472459" "00012078" "75" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "10" "0000472460" "00012078" "55" "894" "0" "894" "0" "c.894T>G" "r.(?)" "p.(Tyr298*)" "10" "0000472461" "00012078" "75" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "10" "0000472462" "00012078" "75" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "10" "0000472463" "00012078" "75" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Asp)" "10" "0000472464" "00012078" "15" "1089" "0" "1089" "0" "c.1089A>C" "r.(?)" "p.(Lys363Asn)" "11" "0000472465" "00012078" "55" "1089" "0" "1089" "0" "c.1089A>G" "r.(?)" "p.(=)" "11" "0000472466" "00012078" "75" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Asp368His)" "11" "0000472467" "00012078" "55" "1103" "-2" "1103" "-2" "c.1103-2del" "r.spl" "p.(=)" "11i" "0000472468" "00012078" "55" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "12" "0000472469" "00012078" "75" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "12" "0000472470" "00012078" "75" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "12" "0000472471" "00012078" "75" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "12" "0000472472" "00012078" "75" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "12" "0000472473" "00012078" "75" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Asp)" "12" "0000472474" "00012078" "75" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Pro447Leu)" "12" "0000472475" "00012078" "75" "1373" "0" "1373" "0" "c.1373C>A" "r.(?)" "p.(Thr458Lys)" "13" "0000472476" "00012078" "75" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Trp)" "13" "0000472477" "00012078" "75" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "13" "0000472478" "00012078" "15" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "13" "0000472479" "00012078" "55" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Gln474*)" "13" "0000472480" "00012078" "55" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482*)" "13" "0000472481" "00012078" "55" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482*)" "13" "0000521650" "00012078" "10" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Gly429=)" "" "0000521651" "00012078" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Gly429Asp)" "" "0000521652" "00012078" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000521653" "00012078" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000521654" "00012078" "30" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Pro390Leu)" "" "0000521655" "00012078" "50" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Leu354Ser)" "" "0000521656" "00012078" "10" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Val347=)" "" "0000521657" "00012078" "10" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Val347=)" "" "0000521662" "00012078" "30" "931" "0" "931" "0" "c.931A>G" "r.(?)" "p.(Ile311Val)" "" "0000521664" "00012078" "90" "863" "1" "863" "1" "c.863+1G>A" "r.spl?" "p.?" "" "0000521665" "00012078" "30" "750" "0" "750" "0" "c.750A>G" "r.(?)" "p.(Glu250=)" "" "0000521666" "00012078" "70" "309" "0" "309" "0" "c.309A>T" "r.(?)" "p.(Arg103Ser)" "" "0000521667" "00012078" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0000521668" "00012078" "10" "199" "-8" "199" "-8" "c.199-8T>C" "r.(=)" "p.(=)" "" "0000521669" "00012078" "10" "66" "0" "66" "0" "c.66A>T" "r.(?)" "p.(Glu22Asp)" "" "0000521670" "00012078" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Ser20Asn)" "" "0000521671" "00012078" "30" "51" "0" "51" "0" "c.51A>C" "r.(?)" "p.(Thr17=)" "" "0000609075" "00012078" "50" "1445" "0" "1445" "0" "c.1445G>C" "r.(?)" "p.(Arg482Pro)" "" "0000651402" "00012078" "30" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Ala423Val)" "" "0000651403" "00012078" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "" "0000655097" "00012078" "90" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381Ter)" "" "0000669799" "00012078" "30" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Ala423Val)" "" "0000677194" "00012078" "10" "1311" "0" "1311" "0" "c.1311C>G" "r.(?)" "p.(Ser437=)" "" "0000677195" "00012078" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Pro213Leu)" "" "0000677196" "00012078" "50" "115" "0" "115" "0" "c.115A>T" "r.(?)" "p.(Ile39Phe)" "" "0000677197" "00012078" "50" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000683463" "00012078" "70" "1325" "0" "1325" "0" "c.1325C>A" "r.(?)" "p.(Ser442*)" "12" "0000683464" "00012078" "70" "198" "2" "198" "2" "c.198+2T>C" "r.spl?" "p.?" "i4" "0000683465" "00012078" "50" "841" "0" "841" "0" "c.841T>C" "r.(?)" "p.(Phe281Leu)" "9" "0000683562" "00012078" "90" "1354" "0" "1369" "0" "c.1354_1369del" "r.(?)" "p.(Val452*)" "" "0000689233" "00012078" "30" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Met470Val)" "" "0000689234" "00012078" "70" "1319" "0" "1319" "0" "c.1319del" "r.(?)" "p.(Leu440HisfsTer6)" "" "0000689235" "00012078" "50" "1273" "0" "1273" "0" "c.1273C>G" "r.(?)" "p.(Leu425Val)" "" "0000689236" "00012078" "30" "78" "0" "78" "0" "c.78A>G" "r.(?)" "p.(Leu26=)" "" "0000699987" "00012078" "90" "1102" "0" "1102" "0" "c.1102G>C" "r.1102g>c" "p.Asp368His" "" "0000699988" "00012078" "90" "554" "-847" "554" "-846" "c.554-847_554-846ins(1950_2050)" "r.553_554ins(554-979_?)" "p.?" "6i" "0000713452" "00012078" "90" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000713468" "00012078" "90" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000713572" "00012078" "90" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000713634" "00012078" "90" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000719754" "00012078" "50" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Asp368His)" "" "0000719756" "00012078" "30" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Pro292=)" "" "0000719757" "00012078" "10" "864" "-6" "864" "-6" "c.864-6dup" "r.(=)" "p.(=)" "" "0000733162" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000733602" "00012078" "70" "553" "5" "553" "5" "c.553+5G>A" "r.spl" "p.?" "" "0000735698" "00012078" "90" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000735795" "00012078" "90" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Asp368His)" "" "0000763227" "00012078" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "" "0000786940" "00012078" "90" "217" "0" "217" "0" "c.217dup" "r.(?)" "p.(Thr73AsnfsTer12)" "5" "0000786941" "00012078" "70" "590" "0" "590" "0" "c.590dup" "r.(?)" "p.(Val198CysfsTer7)" "7" "0000786942" "00012078" "70" "694" "0" "694" "0" "c.694del" "r.(?)" "p.(Leu232Ter)" "7" "0000786943" "00012078" "70" "699" "-1" "699" "-1" "c.699-1G>A" "r.spl" "p.?" "7i" "0000786944" "00012078" "70" "1338" "0" "1338" "0" "c.1338del" "r.(?)" "p.(Pro447GlnfsTer11)" "12" "0000794718" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000794719" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000797095" "00012078" "50" "1445" "0" "1445" "0" "c.1445G>C" "r.(?)" "p.(Arg482Pro)" "13" "0000801516" "00012078" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Ser402Leu)" "" "0000811472" "00012078" "70" "1066" "0" "1066" "0" "c.1066C>A" "r.(?)" "p.(Pro356Thr)" "" "0000811473" "00012078" "70" "63" "-1" "63" "-1" "c.63-1G>A" "r.spl" "p.(?)" "" "0000811474" "00012078" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Met46Val)" "" "0000812853" "00012078" "70" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482*)" "" "0000812856" "00012078" "70" "554" "-5" "554" "-5" "c.554-5A>G" "r.spl" "p.(?)" "" "0000812888" "00012078" "70" "754" "2" "754" "2" "c.754+2T>A" "r.spl" "p.(?)" "" "0000812889" "00012078" "70" "1241" "0" "1242" "0" "c.1241_1242insGAAT" "r.(?)" "p.(Ile414Metfs*109)" "" "0000812890" "00012078" "70" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0000812891" "00012078" "70" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "" "0000812892" "00012078" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000812893" "00012078" "70" "863" "4" "863" "4" "c.863+4A>G" "r.spl?" "p.(?)" "" "0000816152" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000816460" "00012078" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000818615" "00012078" "70" "525" "0" "525" "0" "c.525T>A" "r.(?)" "(p.Cys175*)" "" "0000821297" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000821298" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000821299" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000821300" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000822420" "00012078" "70" "670" "0" "670" "0" "c.670A>T" "r.(?)" "p.(Asn224Tyr)" "8" "0000822421" "00012078" "70" "670" "0" "670" "0" "c.670A>T" "r.(?)" "p.(Asn224Tyr)" "8" "0000822441" "00012078" "70" "754" "2" "754" "2" "c.754+2T>A" "r.spl?" "p.?" "9i" "0000822442" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "11" "0000822456" "00012078" "70" "670" "0" "670" "0" "c.670A>T" "r.(?)" "p.(Asn224Tyr)" "8" "0000822457" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "11" "0000850526" "00012078" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Met46Val)" "" "0000859244" "00012078" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000874735" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874736" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874737" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874738" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874739" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874740" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874741" "00012078" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "" "0000874742" "00012078" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "" "0000874743" "00012078" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "" "0000874744" "00012078" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "" "0000874745" "00012078" "70" "1141" "0" "1141" "0" "c.1141G>T" "r.(?)" "p.(Glu381*)" "" "0000874746" "00012078" "70" "1102" "0" "1102" "0" "c.1102G>C" "r.spl" "p.[Asp368His,Lys333Lysfs*3]" "" "0000874747" "00012078" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" "" "0000874748" "00012078" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" "" "0000874749" "00012078" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" "" "0000874750" "00012078" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" "" "0000874751" "00012078" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" "" "0000874752" "00012078" "70" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Trp407Arg)" "" "0000874753" "00012078" "70" "1219" "0" "1219" "0" "c.1219T>C" "r.(?)" "p.(Trp407Arg)" "" "0000874754" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874755" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874756" "00012078" "90" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "" "0000874757" "00012078" "90" "754" "2" "754" "2" "c.754+2T>A" "r.(?)" "p.?" "" "0000874762" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874763" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874764" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874765" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874766" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874767" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874768" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874769" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874770" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874771" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874772" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874773" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874774" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874775" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874776" "00012078" "70" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "" "0000874777" "00012078" "70" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "" "0000874778" "00012078" "70" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0000874779" "00012078" "70" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0000874780" "00012078" "70" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0000874781" "00012078" "70" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "" "0000874782" "00012078" "70" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "" "0000874783" "00012078" "70" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "" "0000874784" "00012078" "70" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Trp78*)" "" "0000874785" "00012078" "70" "525" "0" "525" "0" "c.525T>A" "r.(?)" "p.(Cys175*)" "" "0000874786" "00012078" "70" "325" "0" "339" "0" "c.325_339del" "r.(?)" "p.(Val109_Ile113del)" "" "0000874803" "00012078" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874804" "00012078" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874805" "00012078" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874806" "00012078" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874807" "00012078" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000874808" "00012078" "90" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "" "0000874809" "00012078" "90" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "" "0000874810" "00012078" "90" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "" "0000874811" "00012078" "70" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Pro412Leu)" "" "0000886135" "00012078" "70" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Met454Thr)" "" "0000886136" "00012078" "30" "553" "20" "553" "20" "c.553+20C>T" "r.(=)" "p.(=)" "" "0000886137" "00012078" "70" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "" "0000886138" "00012078" "30" "199" "-8" "199" "-8" "c.199-8T>C" "r.(=)" "p.(=)" "" "0000900025" "00012078" "70" "439" "3" "439" "3" "c.439+3A>C" "r.(?)" "p.Ile67Glufs*3" "5i" "0000900026" "00012078" "70" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Gly197ValfsTer2)" "" "0000920217" "00012078" "70" "638" "0" "638" "0" "c.638C>A" "r.(?)" "p.(Pro213Gln)" "" "0000948261" "00012078" "30" "1041" "0" "1041" "0" "c.1041A>G" "r.(?)" "p.(Val347=)" "" "0000948262" "00012078" "30" "66" "0" "66" "0" "c.66A>T" "r.(?)" "p.(Glu22Asp)" "" "0000958265" "00012078" "90" "750" "0" "750" "0" "c.750A>G" "r.spl" "p.(Arg233Serfs*5)" "" "0000958266" "00012078" "90" "750" "0" "750" "0" "c.750A>G" "r.spl" "p.(Arg233Serfs*5)" "" "0000958880" "00012078" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Ser422Leu)" "" "0000958902" "00012078" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000959319" "00012078" "50" "1445" "0" "1445" "0" "c.1445G>C" "r.(?)" "p.(Arg482Pro)" "" "0000959335" "00012078" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Ile)" "" "0000963020" "00012078" "30" "864" "-6" "864" "-6" "c.864-6dup" "r.(=)" "p.(=)" "" "0000986460" "00012078" "50" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "10" "0000986461" "00012078" "50" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "2" "0000986462" "00012078" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "1" "0000986463" "00012078" "50" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "10" "0000986935" "00012078" "50" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Ser460Pro)" "12" "0000986936" "00012078" "50" "1006" "0" "1006" "0" "c.1006G>C" "r.(?)" "p.(Glu336Gln)" "10" "0000986937" "00012078" "50" "1378" "0" "1378" "0" "c.1378T>C" "r.(?)" "p.(Ser460Pro)" "12" "0000987257" "00012078" "90" "863" "1" "863" "1" "c.863+1G>A" "r.spl" "p.?" "" "0001010126" "00012078" "90" "750" "0" "750" "0" "c.750A>G" "r.[699_754del,554_754del]" "p.[Arg233SerfsTer5,Val185_Glu251del]" "" "0001011693" "00012078" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "2" "0001011694" "00012078" "90" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "12" "0001011695" "00012078" "70" "863" "4" "863" "4" "c.863+4A>G" "r.spl?" "p.?" "8i" "0001011696" "00012078" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "2" "0001011697" "00012078" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35*)" "2" "0001011698" "00012078" "90" "863" "1" "863" "1" "c.863+1G>A" "r.spl" "p.?" "8i" "0001011729" "00012078" "90" "863" "4" "863" "4" "c.863+4A>G" "r.spl?" "p.?" "8i" "0001011955" "00012078" "90" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "0001012007" "00012078" "90" "863" "4" "863" "4" "c.863+4A>G" "r.spl" "p.?" "" "0001012390" "00012078" "90" "881" "0" "881" "0" "c.881C>A" "r.(?)" "p.(Thr294Lys)" "" "0001012417" "00012078" "50" "50" "0" "50" "0" "c.50C>G" "r.(?)" "p.(Thr17Arg)" "" "0001022246" "00012078" "70" "750" "0" "750" "0" "c.750A>G" "r.699_754del" "p.Arg233SerfsTer5" "7" "0001024891" "00012078" "90" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Asp368His)" "" "0001024892" "00012078" "50" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 227 "{{screeningid}}" "{{variantid}}" "0000081049" "0000130135" "0000081168" "0000130254" "0000133110" "0000222309" "0000133111" "0000222310" "0000133112" "0000222311" "0000230777" "0000472395" "0000230777" "0000472436" "0000230779" "0000472397" "0000230780" "0000472398" "0000230781" "0000472399" "0000230782" "0000472400" "0000230783" "0000472401" "0000230783" "0000472413" "0000230784" "0000472402" "0000230784" "0000472435" "0000230785" "0000472403" "0000230786" "0000472404" "0000230787" "0000472405" "0000230788" "0000472406" "0000230789" "0000472407" "0000230790" "0000472408" "0000230791" "0000472409" "0000230792" "0000472410" "0000230793" "0000472411" "0000230794" "0000472412" "0000230795" "0000472414" "0000230795" "0000472475" "0000230796" "0000472415" "0000230797" "0000472416" "0000230798" "0000472417" "0000230799" "0000472418" "0000230800" "0000472419" "0000230801" "0000472420" "0000230802" "0000472421" "0000230803" "0000472422" "0000230804" "0000472423" "0000230804" "0000472467" "0000230805" "0000472424" "0000230806" "0000472425" "0000230807" "0000472426" "0000230807" "0000472458" "0000230808" "0000472427" "0000230809" "0000472428" "0000230810" "0000472429" "0000230811" "0000472430" "0000230812" "0000472431" "0000230812" "0000472477" "0000230813" "0000472432" "0000230814" "0000472433" "0000230815" "0000472434" "0000230815" "0000472462" "0000230816" "0000472437" "0000230817" "0000472438" "0000230818" "0000472439" "0000230819" "0000472440" "0000230820" "0000472441" "0000230821" "0000472442" "0000230822" "0000472443" "0000230823" "0000472444" "0000230824" "0000472445" "0000230825" "0000472446" "0000230826" "0000472447" "0000230827" "0000472448" "0000230828" "0000472449" "0000230829" "0000472450" "0000230830" "0000472451" "0000230831" "0000472452" "0000230832" "0000472453" "0000230833" "0000472454" "0000230834" "0000472455" "0000230835" "0000472456" "0000230836" "0000472457" "0000230837" "0000472459" "0000230838" "0000472460" "0000230839" "0000472461" "0000230840" "0000472463" "0000230841" "0000472464" "0000230842" "0000472465" "0000230843" "0000472466" "0000230844" "0000472468" "0000230844" "0000472480" "0000230845" "0000472469" "0000230846" "0000472470" "0000230847" "0000472471" "0000230848" "0000472472" "0000230849" "0000472473" "0000230850" "0000472474" "0000230851" "0000472476" "0000230852" "0000472478" "0000230853" "0000472479" "0000230854" "0000472481" "0000294713" "0000651402" "0000294714" "0000651403" "0000306111" "0000669799" "0000309018" "0000683463" "0000309019" "0000683464" "0000309020" "0000683465" "0000309099" "0000683562" "0000317381" "0000699987" "0000317381" "0000699988" "0000329329" "0000713452" "0000329345" "0000713468" "0000329449" "0000713572" "0000329511" "0000713634" "0000335153" "0000733162" "0000335153" "0000733602" "0000336423" "0000735698" "0000336423" "0000735795" "0000362853" "0000763227" "0000375589" "0000786940" "0000375590" "0000786941" "0000375591" "0000786942" "0000375592" "0000786943" "0000375593" "0000786944" "0000381319" "0000794718" "0000381320" "0000794719" "0000383103" "0000797095" "0000384707" "0000811472" "0000384708" "0000811473" "0000384709" "0000811474" "0000385738" "0000812853" "0000385738" "0000812856" "0000385770" "0000812888" "0000385771" "0000812889" "0000385772" "0000812890" "0000385773" "0000812891" "0000385774" "0000812892" "0000385775" "0000812893" "0000387994" "0000816152" "0000387994" "0000816460" "0000389529" "0000818615" "0000391548" "0000821297" "0000391549" "0000821298" "0000391550" "0000821299" "0000391551" "0000821300" "0000392208" "0000822420" "0000392208" "0000822421" "0000392221" "0000822441" "0000392221" "0000822442" "0000392230" "0000822456" "0000392230" "0000822457" "0000416590" "0000874735" "0000416590" "0000874741" "0000416591" "0000874736" "0000416591" "0000874742" "0000416592" "0000874737" "0000416592" "0000874743" "0000416593" "0000874738" "0000416593" "0000874744" "0000416594" "0000874739" "0000416594" "0000874745" "0000416595" "0000874740" "0000416595" "0000874746" "0000416596" "0000874747" "0000416597" "0000874748" "0000416598" "0000874749" "0000416599" "0000874750" "0000416600" "0000874751" "0000416601" "0000874752" "0000416601" "0000874754" "0000416602" "0000874753" "0000416602" "0000874755" "0000416603" "0000874756" "0000416603" "0000874757" "0000416604" "0000874762" "0000416604" "0000874777" "0000416605" "0000874763" "0000416606" "0000874764" "0000416607" "0000874765" "0000416608" "0000874766" "0000416609" "0000874767" "0000416610" "0000874768" "0000416611" "0000874769" "0000416612" "0000874770" "0000416612" "0000874778" "0000416613" "0000874771" "0000416613" "0000874779" "0000416614" "0000874772" "0000416614" "0000874780" "0000416615" "0000874773" "0000416615" "0000874781" "0000416616" "0000874774" "0000416616" "0000874782" "0000416617" "0000874775" "0000416617" "0000874783" "0000416618" "0000874776" "0000416618" "0000874784" "0000416619" "0000874785" "0000416620" "0000874786" "0000416631" "0000874803" "0000416631" "0000874808" "0000416632" "0000874804" "0000416632" "0000874809" "0000416633" "0000874805" "0000416633" "0000874810" "0000416634" "0000874806" "0000416635" "0000874807" "0000416637" "0000874811" "0000423986" "0000900025" "0000423986" "0000900026" "0000434458" "0000920217" "0000448779" "0000958265" "0000448780" "0000958266" "0000449113" "0000958880" "0000449113" "0000959319" "0000449135" "0000958902" "0000449135" "0000959335" "0000452477" "0000986460" "0000452477" "0000986935" "0000452478" "0000986461" "0000452479" "0000986462" "0000452479" "0000986936" "0000452480" "0000986463" "0000452480" "0000986937" "0000452912" "0000987257" "0000456443" "0001010126" "0000457228" "0001011693" "0000457229" "0001011694" "0000457229" "0001011695" "0000457230" "0001011696" "0000457232" "0001011697" "0000457232" "0001011698" "0000457233" "0001011729" "0000457452" "0001011955" "0000457452" "0001012007" "0000457843" "0001012390" "0000457870" "0001012417"