### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLN8) # 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}}" "CLN8" "CLN8 transmembrane ER and ERGIC protein" "8" "p23.3" "unknown" "NG_008656.2" "UD_132118652255" "" "https://www.LOVD.nl/CLN8" "" "1" "2079" "2055" "607837" "1" "1" "1" "1" "An NCL gene variant database.\r\nEstablishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013: 34: 1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/CLN8_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00008" "2012-10-11 00:00:00" "00006" "2019-07-21 20:26:30" "00000" "2025-05-05 21:14:00" ## 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}}" "00001722" "CLN8" "ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)" "001" "NM_018941.3" "" "NP_061764.2" "" "" "" "-305" "6864" "861" "1711870" "1734736" "00008" "2012-10-11 12:24:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00061" "CLN8" "lipofuscinosis, ceroid, neuronal, type 8 (CLN-8)" "AR" "600143" "" "" "" "00008" "2012-10-11 12:20:05" "00006" "2021-12-10 21:51:32" "00062" "CLN8B" "lipofuscinosis, ceroid, neuronal, type 8B (CLN-8, Northern epilepsy variant)" "AR" "610003" "" "" "" "00008" "2012-10-11 12:21:53" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CLN8" "00061" "CLN8" "00062" "CLN8" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 100 "{{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}}" "00104606" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104607" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104608" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104609" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104610" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104611" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104612" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104613" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104614" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104615" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104616" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104617" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104618" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104619" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104620" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104621" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104622" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104623" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104624" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104625" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104626" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104627" "" "" "" "1" "" "00006" "{PMID:Ranta 1999:10508524}, copied from {DB:CLN}" "founder effect, 22 patients" "" "" "Finland" "" "0" "" "" "" "10508524-?" "00104628" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104629" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104630" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104631" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104632" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104633" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104634" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104635" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104636" "" "" "" "1" "" "00006" "{PMID:Siintola 2006a:16828266}, copied from {DB:CLN}" "" "" "" "Finland" "" "0" "" "" "" "16828266-?" "00104637" "" "" "" "1" "" "00006" "{PMID:Siintola 2006a:16828266}, copied from {DB:CLN}" "" "" "" "Finland" "" "0" "" "" "" "16828266-?" "00104638" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "11589000" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104639" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "11589000" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104640" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "11589000; Siblings" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104641" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "11589000; Siblings" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104642" "" "" "" "1" "" "00006" "{PMID:Ranta 2004:15024724}, copied from {DB:CLN}" "11589000" "" "" "Turkey" "" "0" "" "" "" "15024724-?" "00104643" "" "" "" "1" "" "00006" "{PMID:Kousi 2009:19201763}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "19201763-?" "00104644" "" "" "" "1" "" "00006" "{PMID:Kousi 2009:19201763}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "19201763-?" "00104645" "" "" "" "1" "" "00006" "{PMID:Cannelli 2006:16570191}, copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "16570191-?" "00104646" "" "" "" "1" "" "00006" "{PMID:Cannelli 2006:16570191}, copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "16570191-?" "00104647" "" "" "" "1" "" "00006" "{PMID:Cannelli 2006:16570191}, copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "16570191-?" "00104648" "" "" "" "1" "" "00006" "{PMID:Cannelli 2006:16570191}, copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "16570191-?" "00104649" "" "" "" "1" "" "00006" "{PMID:Cannelli 2006:16570191}, copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "16570191-?" "00104650" "" "" "" "1" "" "00006" "{PMID:Vantaggiato 2009:19431184}, copied from {DB:CLN}" "Maternal Uniparental Disomy" "" "" "Italy" "" "0" "" "" "" "19431184-?" "00104651" "" "" "" "1" "" "00006" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CLN}" "" "" "" "Germany" "" "0" "" "" "" "19807737-?" "00104652" "" "" "" "1" "" "00006" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CLN}" "" "" "" "Pakistan" "" "0" "" "" "" "19807737-?" "00104653" "" "" "" "1" "" "00006" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CLN}" "Siblings" "" "" "Turkey" "" "0" "" "" "" "19807737-?" "00104654" "" "" "" "1" "" "00006" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CLN}" "Siblings" "" "" "Turkey" "" "0" "" "" "" "19807737-?" "00104655" "" "" "" "1" "" "00006" "{PMID:Zelnik 2007:17560505}, copied from {DB:CLN}" "3 branches of same family" "" "" "Israel" "" "0" "" "" "" "17560505-?" "00104656" "" "" "" "1" "" "00006" "{PMID:Mahajnah and Zelnik 2012:22964447}, copied from {DB:CLN}" "3 branches of same family" "" "" "Israel" "" "0" "" "" "" "22964447-?" "00104657" "" "" "" "1" "" "00006" "{PMID:Mahajnah and Zelnik 2012:22964447}, copied from {DB:CLN}" "3 branches of same family" "" "" "Israel" "" "0" "" "" "" "22964447-?" "00104658" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Cismondi personal communication" "" "" "Mexico" "" "0" "" "" "" "21990111-?" "00104659" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Cismondi personal communication" "" "" "Argentina" "" "0" "" "" "" "21990111-?" "00104660" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Santorelli personal communication" "" "" "India" "" "0" "" "" "" "21990111-?" "00104661" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Santorelli personal communication" "" "" "Pakistan" "" "0" "" "" "" "21990111-?" "00104662" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Loughlin personal communication" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21990111-?" "00104663" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Loughlin personal communication" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21990111-?" "00104665" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}" "" "" "" "New Zealand" "" "0" "" "" "" "patient" "00104666" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "New Zealand" "" "0" "" "" "" "21990111-?" "00104667" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104668" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104669" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104670" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104671" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104672" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Pakistan" "" "0" "" "" "" "21990111-?" "00104673" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Pakistan" "" "0" "" "" "" "21990111-?" "00104674" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104675" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104676" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104677" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104678" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "variant 2nd allele not identified" "" "" "Turkey" "" "0" "" "" "" "21990111-?" "00104679" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "" "" "" "Albania" "" "0" "" "" "" "21990111-?" "00104680" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Ball personal communication" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "21990111-?" "00104681" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "Losekoot personal communication" "" "" "" "" "0" "" "" "Arabic" "21990111-?" "00104682" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "apparently homozygous for mutation due to de novo chr 8 deletion; Ray personal communication" "" "" "Canada" "" "0" "" "" "" "21990111-?" "00104683" "" "" "" "1" "" "00006" "{PMID:Kousi 2011:21990111}, copied from {DB:CLN}" "apparently homozygous for mutation due to de novo chr 8 deletion; Ray personal communication" "" "" "Canada" "" "0" "" "" "" "21990111-?" "00104684" "" "" "" "1" "" "00006" "{PMID:Allen 2012:22220808}, copied from {DB:CLN}" "apparently homozygous for mutation due to de novo chr 8 deletion" "" "" "Ireland" "" "0" "" "" "" "22220808-?" "00104685" "" "" "" "1" "" "00006" "{PMID:Allen 2012:22220808}, copied from {DB:CLN}" "apparently homozygous for mutation due to de novo chr 8 deletion" "" "" "Ireland" "" "0" "" "" "" "22220808-?" "00104686" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asian" "N.A.-?" "00104687" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "Italy" "" "0" "" "" "" "-?" "00104688" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "-?" "00104689" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "-?" "00104690" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "-?" "00104691" "" "" "" "1" "" "00006" "A Dobbie, pers.comm., copied from {DB:CLN}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "-?" "00116890" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_280:0/1:CONTROL" "00294604" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305186" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307876" "" "" "" "1" "" "03765" "" "" "F" "?" "Oman" "" "" "" "" "" "?" "00307896" "" "" "" "1" "" "03765" "" "" "F" "no" "Ukraine" "" "" "" "" "" "?" "00374271" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4672" "00374604" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4869" "00374661" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3146" "00380774" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00384551" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "proband 31. family theta" "F" "yes" "" "" "0" "" "" "" "31theta" "00384552" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "sibling of proband 31. family theta" "M" "yes" "" "11y" "0" "" "" "" "32theta" "00384553" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "no" "" "" "0" "" "" "" "33" "00445034" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CLN800668" "00456244" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat22" "00456248" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat26" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 100 "{{individualid}}" "{{diseaseid}}" "00104606" "05258" "00104607" "05258" "00104608" "05258" "00104609" "05258" "00104610" "05258" "00104611" "05258" "00104612" "05258" "00104613" "05258" "00104614" "05258" "00104615" "05258" "00104616" "05258" "00104617" "05258" "00104618" "05258" "00104619" "05258" "00104620" "05258" "00104621" "05258" "00104622" "05258" "00104623" "05258" "00104624" "05258" "00104625" "05258" "00104626" "05258" "00104627" "05258" "00104628" "05258" "00104629" "05258" "00104630" "05258" "00104631" "05258" "00104632" "05258" "00104633" "05258" "00104634" "05258" "00104635" "05258" "00104636" "05258" "00104637" "05258" "00104638" "05258" "00104639" "05258" "00104640" "05258" "00104641" "05258" "00104642" "05258" "00104643" "05258" "00104644" "05258" "00104645" "05258" "00104646" "05258" "00104647" "05258" "00104648" "05258" "00104649" "05258" "00104650" "05258" "00104651" "05258" "00104652" "05258" "00104653" "05258" "00104654" "05258" "00104655" "05258" "00104656" "05258" "00104657" "05258" "00104658" "05258" "00104659" "05258" "00104660" "05258" "00104661" "05258" "00104662" "00198" "00104663" "00198" "00104665" "05258" "00104666" "05258" "00104667" "05258" "00104668" "05258" "00104669" "00198" "00104670" "00198" "00104671" "00198" "00104672" "00198" "00104673" "00198" "00104674" "00198" "00104675" "00198" "00104676" "05258" "00104677" "00198" "00104678" "00198" "00104679" "05258" "00104680" "05258" "00104681" "00198" "00104682" "00198" "00104683" "00198" "00104684" "05258" "00104685" "05258" "00104686" "05258" "00104687" "05258" "00104688" "05258" "00104689" "05258" "00104690" "05258" "00104691" "05258" "00116890" "00000" "00294604" "00198" "00305186" "00198" "00307876" "00061" "00307896" "00061" "00374271" "00198" "00374604" "00198" "00374661" "00198" "00380774" "00061" "00384551" "05258" "00384552" "05258" "00384553" "05258" "00445034" "00296" "00456244" "00198" "00456248" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00061, 00062, 00198, 00296, 05258 ## Count = 97 "{{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}}" "0000082524" "05258" "00104606" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082525" "05258" "00104607" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082526" "05258" "00104608" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082527" "05258" "00104609" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082528" "05258" "00104610" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082529" "05258" "00104611" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082530" "05258" "00104612" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082531" "05258" "00104613" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082532" "05258" "00104614" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082533" "05258" "00104615" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082534" "05258" "00104616" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082535" "05258" "00104617" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082536" "05258" "00104618" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082537" "05258" "00104619" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082538" "05258" "00104620" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082539" "05258" "00104621" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082540" "05258" "00104622" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082541" "05258" "00104623" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082542" "05258" "00104624" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082543" "05258" "00104625" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082544" "05258" "00104626" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082545" "05258" "00104627" "00006" "Unknown" "" "progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082546" "05258" "00104628" "00006" "Unknown" "" "histology fingerprint condensed" "07y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082547" "05258" "00104629" "00006" "Unknown" "" "histology fingerprint condensed" "07y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082548" "05258" "00104630" "00006" "Unknown" "" "histology fingerprint condensed" "08y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082549" "05258" "00104631" "00006" "Unknown" "" "histology fingerprint condensed, curvilinear/fingerprint condensed" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082550" "05258" "00104632" "00006" "Unknown" "" "histology fingerprint condensed, curvilinear/fingerprint condensed" "07y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082551" "05258" "00104633" "00006" "Unknown" "" "histology fingerprint condensed, curvilinear/fingerprint condensed" "07y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082552" "05258" "00104634" "00006" "Unknown" "" "histology fingerprint condensed" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082553" "05258" "00104635" "00006" "Unknown" "" "histology fingerprint condensed" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082554" "05258" "00104636" "00006" "Unknown" "" "mild progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082555" "05258" "00104637" "00006" "Unknown" "" "mild progressive epilepsy with mental retardation " "?" "" "" "" "" "" "" "" "" "NCL" "" "0000082556" "05258" "00104638" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y09m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082557" "05258" "00104639" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "02y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082558" "05258" "00104640" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082559" "05258" "00104641" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y04m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082560" "05258" "00104642" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082561" "05258" "00104643" "00006" "Unknown" "" "histology NCL inclusions" "03y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082562" "05258" "00104644" "00006" "Unknown" "" "" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082563" "05258" "00104645" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082564" "05258" "00104646" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082565" "05258" "00104647" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082566" "05258" "00104648" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "03y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082567" "05258" "00104649" "00006" "Unknown" "" "histology CV / FP / GROD-like" "06y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082568" "05258" "00104650" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "02y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082569" "05258" "00104651" "00006" "Unknown" "" "histology CL" "03y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082570" "05258" "00104652" "00006" "Unknown" "" "histology CL / GROD-like" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082571" "05258" "00104653" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "02y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082572" "05258" "00104654" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "02y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082573" "05258" "00104655" "00006" "Unknown" "" "histology fingerprint condensed /CL/ GROD-like" "05y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082574" "05258" "00104656" "00006" "Unknown" "" "histology N.D." "04y" "" "" "" "" "" "" "" "" "mild variant late infantile NCL" "" "0000082575" "05258" "00104657" "00006" "Unknown" "" "histology normal" "06y" "" "" "" "" "" "" "" "" "mild variant late infantile NCL" "" "0000082576" "05258" "00104658" "00006" "Unknown" "" "histology fingerprint condensed" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082577" "05258" "00104659" "00006" "Unknown" "" "histology fingerprint condensed" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082578" "05258" "00104660" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082579" "05258" "00104661" "00006" "Unknown" "" "histology curvelineair/fingerprint condensed" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082580" "00198" "00104662" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082581" "00198" "00104663" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082583" "05258" "00104665" "00006" "Unknown" "" "" "01y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000082584" "05258" "00104666" "00006" "Unknown" "" "" "01y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000082585" "05258" "00104667" "00006" "Unknown" "" "lamellar includsions" "04y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000082586" "05258" "00104668" "00006" "Unknown" "" "lamellar includsions" "04y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000082587" "00198" "00104669" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082588" "00198" "00104670" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082589" "00198" "00104671" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082590" "00198" "00104672" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082591" "00198" "00104673" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082592" "00198" "00104674" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082593" "00198" "00104675" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082594" "05258" "00104676" "00006" "Unknown" "" "" "04y" "" "" "" "" "" "" "" "" "late infantile NCL" "" "0000082595" "00198" "00104677" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082596" "00198" "00104678" "00006" "Unknown" "" "" "02y" "" "" "" "" "" "" "" "" "" "" "0000082597" "05258" "00104679" "00006" "Unknown" "" "histology GRODs/CL" "02y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082598" "05258" "00104680" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082599" "00198" "00104681" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082600" "00198" "00104682" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082601" "00198" "00104683" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "" "" "0000082602" "05258" "00104684" "00006" "Unknown" "" "histology fingerprint condensed (lymphocytes), CL, RL (skin)" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082603" "05258" "00104685" "00006" "Unknown" "" "histology fingerprint condensed (lymphocytes), CL, RL (skin)" "04y" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082604" "05258" "00104686" "00006" "Unknown" "" "histology none" "03y06m" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082605" "05258" "00104687" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082606" "05258" "00104688" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082607" "05258" "00104689" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082608" "05258" "00104690" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000082609" "05258" "00104691" "00006" "Unknown" "" "" "?" "" "" "" "" "" "" "" "" "variant late infantile NCL" "" "0000233301" "00061" "00307876" "03765" "Familial, autosomal recessive" "" "Febrile seizures, Developmental regression, Brain atrophy" "02y" "08y04m" "" "" "" "" "" "" "" "" "" "0000233319" "00061" "00307896" "03765" "Familial, autosomal recessive" "" "Ptosis, Dementia, Seizures, Ataxia, Hemiparesis, Gait disturbance, Encephalopathy, Generalized-onset seizure, Developmental regression, Aphasia, Leukodystrophy, Abnormal myelination, Neurodevelopmental abnormality" "03y05m" "04y07m" "" "" "" "" "" "" "" "" "" "0000269481" "00198" "00374271" "00006" "Familial, autosomal recessive" "" "Seizures, regression and imbalance while walking. Brain MRI shows cerebellar atrophy" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269814" "00198" "00374604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269871" "00198" "00374661" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000274627" "00061" "00380774" "00000" "Familial" "" "DD; ID; seizures; regression; cerebellar atrophy (Neurological)" "" "" "" "" "" "" "" "" "Ceroid lipofuscinosis type 8" "" "" "0000278335" "05258" "00384551" "00000" "Familial, autosomal recessive" "18y" "" "3y8m" "" "Developmental regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 8" "lipofuscinosis, ceroid, neuronal" "" "0000278336" "05258" "00384552" "00000" "Familial, autosomal recessive" "11y" "" "2y6m" "" "Developmental regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 8" "lipofuscinosis, ceroid, neuronal" "" "0000278337" "05258" "00384553" "00000" "Familial, autosomal recessive" "13y" "" "3y" "" "Developmental regression" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 8" "lipofuscinosis, ceroid, neuronal" "" "0000334286" "00296" "00445034" "00006" "Familial, autosomal recessive" "" "bilateral cataract, neuronal ceroid lipofuscinosis" "" "" "" "" "" "" "" "" "CLN8" "cataract" "" "0000344763" "00198" "00456244" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "2y" "" "" "" "" "" "" "" "CLN8" "lysosomal storage disorder" "" "0000344767" "00198" "00456248" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "4y" "" "" "" "" "" "" "" "CLN8" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 100 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105078" "00104606" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105079" "00104607" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105080" "00104608" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105081" "00104609" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105082" "00104610" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105083" "00104611" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105084" "00104612" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105085" "00104613" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105086" "00104614" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105087" "00104615" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105088" "00104616" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105089" "00104617" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105090" "00104618" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105091" "00104619" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105092" "00104620" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105093" "00104621" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105094" "00104622" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105095" "00104623" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105096" "00104624" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105097" "00104625" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105098" "00104626" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105099" "00104627" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105100" "00104628" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105101" "00104629" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105102" "00104630" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105103" "00104631" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105104" "00104632" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105105" "00104633" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105106" "00104634" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105107" "00104635" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105108" "00104636" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105109" "00104637" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105110" "00104638" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105111" "00104639" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105112" "00104640" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105113" "00104641" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105114" "00104642" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105115" "00104643" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105116" "00104644" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105117" "00104645" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105118" "00104646" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105119" "00104647" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105120" "00104648" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105121" "00104649" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105122" "00104650" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105123" "00104651" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105124" "00104652" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105125" "00104653" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105126" "00104654" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105127" "00104655" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105128" "00104656" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105129" "00104657" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105130" "00104658" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105131" "00104659" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105132" "00104660" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105133" "00104661" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105134" "00104662" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105135" "00104663" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105137" "00104665" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105138" "00104666" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105139" "00104667" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105140" "00104668" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105141" "00104669" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105142" "00104670" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105143" "00104671" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105144" "00104672" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105145" "00104673" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105146" "00104674" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105147" "00104675" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105148" "00104676" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105149" "00104677" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105150" "00104678" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105151" "00104679" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105152" "00104680" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105153" "00104681" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105154" "00104682" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105155" "00104683" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105156" "00104684" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105157" "00104685" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105158" "00104686" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105159" "00104687" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105160" "00104688" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105161" "00104689" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105162" "00104690" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000105163" "00104691" "1" "00006" "01921" "2017-02-09 12:00:00" "" "" "SEQ" "DNA" "" "" "0000117358" "00116890" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000295772" "00294604" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306315" "00305186" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309016" "00307876" "1" "03765" "03765" "2020-08-20 02:38:57" "" "" "SEQ" "DNA" "EDTA" "" "0000309037" "00307896" "1" "03765" "03765" "2020-08-20 15:19:12" "" "" "SEQ-NG" "DNA" "DBS" "WES" "0000375465" "00374271" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375798" "00374604" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375855" "00374661" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381988" "00380774" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000385776" "00384551" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385777" "00384552" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385778" "00384553" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000446604" "00445034" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000457861" "00456244" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457865" "00456248" "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 = 93 "{{screeningid}}" "{{geneid}}" "0000105078" "CLN8" "0000105079" "CLN8" "0000105080" "CLN8" "0000105081" "CLN8" "0000105082" "CLN8" "0000105083" "CLN8" "0000105084" "CLN8" "0000105085" "CLN8" "0000105086" "CLN8" "0000105087" "CLN8" "0000105088" "CLN8" "0000105089" "CLN8" "0000105090" "CLN8" "0000105091" "CLN8" "0000105092" "CLN8" "0000105093" "CLN8" "0000105094" "CLN8" "0000105095" "CLN8" "0000105096" "CLN8" "0000105097" "CLN8" "0000105098" "CLN8" "0000105099" "CLN8" "0000105100" "CLN8" "0000105101" "CLN8" "0000105102" "CLN8" "0000105103" "CLN8" "0000105104" "CLN8" "0000105105" "CLN8" "0000105106" "CLN8" "0000105107" "CLN8" "0000105108" "CLN8" "0000105109" "CLN8" "0000105110" "CLN8" "0000105111" "CLN8" "0000105112" "CLN8" "0000105113" "CLN8" "0000105114" "CLN8" "0000105115" "CLN8" "0000105116" "CLN8" "0000105117" "CLN8" "0000105118" "CLN8" "0000105119" "CLN8" "0000105120" "CLN8" "0000105121" "CLN8" "0000105122" "CLN8" "0000105123" "CLN8" "0000105124" "CLN8" "0000105125" "CLN8" "0000105126" "CLN8" "0000105127" "CLN8" "0000105128" "CLN8" "0000105129" "CLN8" "0000105130" "CLN8" "0000105131" "CLN8" "0000105132" "CLN8" "0000105133" "CLN8" "0000105134" "CLN8" "0000105135" "CLN8" "0000105137" "CLN8" "0000105138" "CLN8" "0000105139" "CLN8" "0000105140" "CLN8" "0000105141" "CLN8" "0000105142" "CLN8" "0000105143" "CLN8" "0000105144" "CLN8" "0000105145" "CLN8" "0000105146" "CLN8" "0000105147" "CLN8" "0000105148" "CLN8" "0000105149" "CLN8" "0000105150" "CLN8" "0000105151" "CLN8" "0000105152" "CLN8" "0000105153" "CLN8" "0000105154" "CLN8" "0000105155" "CLN8" "0000105156" "CLN8" "0000105157" "CLN8" "0000105158" "CLN8" "0000105159" "CLN8" "0000105160" "CLN8" "0000105161" "CLN8" "0000105162" "CLN8" "0000105163" "CLN8" "0000309016" "CLN8" "0000309037" "CLN8" "0000375465" "CLN8" "0000375798" "CLN8" "0000375855" "ARID1A" "0000385776" "CLN8" "0000385777" "CLN8" "0000385778" "CLN8" ## 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 = 137 "{{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}}" "0000170350" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170351" "1" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170352" "1" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170353" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170354" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170355" "3" "70" "8" "1719308" "1719308" "del" "0" "00006" "CLN8_000057" "g.1719308del" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Ala30LeufsX20" "" "Germline" "" "" "0" "" "" "g.1771142del" "" "likely pathogenic" "" "0000170356" "3" "90" "8" "1719690" "1719690" "subst" "1.2182E-5" "00006" "CLN8_000030" "g.1719690A>G" "" "{PMID:Kousi 2009:19201763}, copied from {DB:CNL}" "" "p.His157Arg" "" "Germline" "" "rs149308952" "0" "" "" "g.1771524A>G" "" "pathogenic" "" "0000170357" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Kousi 2009:19201763}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170358" "2" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Cannelli 2006:16570191}, copied from {DB:CNL}" "" "p.Tyr158Cys" "" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170359" "3" "70" "8" "1719308" "1719308" "subst" "0" "00006" "CLN8_000058" "g.1719308G>C" "" "{PMID:Cannelli 2006:16570191}, copied from {DB:CNL}" "" "p.Ala30Pro" "" "Germline" "" "rs137852883" "0" "" "" "g.1771142G>C" "" "likely pathogenic" "" "0000170360" "3" "90" "8" "1728483" "1728483" "subst" "4.06359E-6" "00006" "CLN8_000071" "g.1728483G>T" "" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CNL}" "" "p.Arg204Leu" "" "Germline" "" "" "0" "" "" "g.1780317G>T" "" "pathogenic" "" "0000170361" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170362" "3" "70" "8" "1728557" "1728557" "subst" "0.0173183" "00006" "CLN8_000049" "g.1728557C>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Pro229Ala" "" "Germline" "" "rs150047904" "0" "" "" "g.1780391C>G" "" "likely pathogenic" "" "0000170363" "3" "70" "8" "1728557" "1728557" "subst" "0.0173183" "00006" "CLN8_000049" "g.1728557C>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Pro229Ala" "" "Germline" "" "rs150047904" "0" "" "" "g.1780391C>G" "" "likely pathogenic" "" "0000170364" "3" "70" "8" "1719429" "1719429" "subst" "2.84317E-5" "00006" "CLN8_000061" "g.1719429G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Arg70His" "" "Germline" "" "" "0" "" "" "g.1771263G>A" "" "likely pathogenic" "" "0000170365" "3" "70" "8" "1719429" "1719429" "subst" "2.84317E-5" "00006" "CLN8_000061" "g.1719429G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Arg70His" "" "Germline" "" "" "0" "" "" "g.1771263G>A" "" "likely pathogenic" "" "0000170366" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170367" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170369" "2" "70" "8" "1719635" "1719635" "subst" "4.06062E-6" "00006" "CLN8_000065" "g.1719635C>T" "" "{PMID:Kousi 2011:21990111}" "" "His139Tyr" "" "Germline" "" "" "0" "" "" "g.1771469C>T" "" "likely pathogenic (recessive)" "" "0000170370" "0" "70" "8" "1719548" "1719548" "subst" "0" "00006" "CLN8_000064" "g.1719548C>T" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "CLN5: c.320+8C>T" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs9565308" "0" "" "" "g.1771382C>T" "" "likely pathogenic" "" "0000170371" "1" "70" "8" "1719447" "1719447" "subst" "0" "00006" "CLN8_000062" "g.1719447A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gln76Arg" "" "Germline" "" "" "0" "" "" "g.1771281A>G" "" "likely pathogenic" "" "0000170372" "2" "70" "8" "1728509" "1728511" "del" "0" "00006" "CLN8_000072" "g.1728509_1728511del" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Trp213del" "" "Germline" "" "" "0" "" "" "g.1780343_1780345del" "" "likely pathogenic" "" "0000170373" "3" "70" "8" "1719540" "1719540" "subst" "0" "00006" "CLN8_000063" "g.1719540T>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Ile107Ser" "" "Germline" "" "" "0" "" "" "g.1771374T>G" "" "likely pathogenic" "" "0000170374" "0" "70" "8" "1729369" "1729369" "del" "0" "00006" "CLN8_000078" "g.1729369delT" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "CLN2: p.Gly501AlafsX18 (het)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1781203delT" "" "likely pathogenic" "" "0000170375" "1" "70" "8" "1719594" "1719594" "subst" "0.000950223" "00006" "CLN8_000025" "g.1719594A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Asn125Ser" "" "Germline" "" "rs142269885" "0" "" "" "g.1771428A>G" "" "likely pathogenic" "" "0000170376" "3" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Tyr158Cys" "" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170377" "3" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Tyr158Cys" "" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170378" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170379" "3" "10" "8" "1728533" "1728533" "subst" "4.46675E-5" "00006" "CLN8_000047" "g.1728533G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gly221Ser" "" "Germline" "" "" "0" "" "" "g.1780367G>A" "" "benign" "" "0000170380" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170381" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170382" "1" "10" "8" "1728678" "1728678" "subst" "0.000341611" "00006" "CLN8_000055" "g.1728678A>T" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Glu269Val" "" "Germline" "" "rs139003032" "0" "" "" "g.1780512A>T" "" "benign" "" "0000170383" "3" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Gly237Arg" "" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170384" "3" "90" "8" "1728482" "1728482" "subst" "3.25074E-5" "00006" "CLN8_000070" "g.1728482C>T" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Arg204Cys" "" "Germline" "" "rs104894060" "0" "" "" "g.1780316C>T" "" "pathogenic" "" "0000170385" "1" "70" "8" "1728434" "1728435" "del" "0" "00006" "CLN8_000068" "g.1728434_1728435del" "" "{PMID:Allen 2012:22220808}, copied from {DB:CNL}" "" "p.Leu188ValfsX58" "" "Germline" "" "" "0" "" "" "g.1780268_1780269del" "" "likely pathogenic" "" "0000170386" "3" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "A. Dobbie, pers comm., copied from {DB:CNL}" "" "p.Tyr158Cys" "" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170387" "3" "70" "8" "1719428" "1719428" "subst" "2.03102E-5" "00006" "CLN8_000060" "g.1719428C>T" "" "A. Simonati, pers comm, copied from {DB:CNL}" "" "c.208C>T" "" "Germline" "" "" "0" "" "" "g.1771262C>T" "" "likely pathogenic" "" "0000170388" "1" "70" "8" "1728635" "1728635" "subst" "4.06088E-6" "00006" "CLN8_000075" "g.1728635C>T" "" "R. Williams pers comm, copied from {DB:CNL}" "" "c.763C>T" "" "Germline" "" "" "0" "" "" "g.1780469C>T" "" "likely pathogenic" "" "0000170389" "1" "70" "8" "1728600" "1728600" "subst" "0" "00006" "CLN8_000074" "g.1728600T>C" "" "R. Williams pers comm, copied from {DB:CNL}" "" "c.728T>C" "" "Germline" "" "" "0" "" "" "g.1780434T>C" "" "likely pathogenic" "" "0000170390" "2" "70" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "R. Williams pers comm, copied from {DB:CNL}" "" "del 54 Kb" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000170391" "3" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170392" "3" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170393" "3" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170394" "2" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170395" "2" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170396" "3" "70" "8" "1728661" "1728661" "subst" "0" "00006" "CLN8_000077" "g.1728661G>C" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Trp263Cys" "(later age of onset and protracted)" "Germline" "" "rs28940569" "0" "" "" "g.1780495G>C" "" "likely pathogenic" "" "0000170397" "1" "70" "8" "1719286" "1719286" "del" "0" "00006" "CLN8_000079" "g.1719286del" "" "{PMID:Cannelli 2006:16570191}, copied from {DB:CNL}" "" "p.Ile23SerfsX5" "both het with different mutations" "Germline" "" "" "0" "" "" "g.1771120del" "" "likely pathogenic" "" "0000170398" "1" "70" "8" "1719286" "1719286" "del" "0" "00006" "CLN8_000079" "g.1719286del" "" "{PMID:Cannelli 2006:16570191}, copied from {DB:CNL}" "" "p.Ile23SerfsX5" "both het with different mutations" "Germline" "" "" "0" "" "" "g.1771120del" "" "likely pathogenic" "" "0000170399" "2" "70" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "{PMID:Allen 2012:22220808}, copied from {DB:CNL}" "" "8p23.3 terminal del" "de novo 8p23.3 terminal deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000170400" "3" "70" "8" "1728638" "1728638" "subst" "0" "00006" "CLN8_000076" "g.1728638C>G" "" "{PMID:Zelnik 2007:17560505}, copied from {DB:CNL}" "" "p.Gln256Glu" "Different disease course in same extended family" "Germline" "" "" "0" "" "" "g.1780472C>G" "" "likely pathogenic" "" "0000170401" "3" "70" "8" "1728638" "1728638" "subst" "0" "00006" "CLN8_000076" "g.1728638C>G" "" "{PMID:Mahajnah and Zelnik 2012:22964447}, copied from {DB:CNL}" "" "p.Gln256Glu" "Different disease course in same extended family" "Germline" "" "" "0" "" "" "g.1780472C>G" "" "likely pathogenic" "" "0000170402" "3" "70" "8" "1728638" "1728638" "subst" "0" "00006" "CLN8_000076" "g.1728638C>G" "" "{PMID:Mahajnah and Zelnik 2012:22964447}, copied from {DB:CNL}" "" "p.Gln256Glu" "Different disease course in same extended family" "Germline" "" "" "0" "" "" "g.1780472C>G" "" "likely pathogenic" "" "0000170403" "2" "70" "8" "1728581" "1728581" "subst" "2.03031E-5" "00006" "CLN8_000073" "g.1728581G>A" "" "{PMID:Siintola 2006a:16828266}, copied from {DB:CNL}" "" "p.Gly237Arg" "Finnish patient: In association with c.70C>G = EPMR or even milder" "Germline" "" "" "0" "" "" "g.1780415G>A" "" "likely pathogenic" "" "0000170404" "1" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Siintola 2006a:16828266}, copied from {DB:CNL}" "" "p.Arg24Gly" "Finnish patient: In association with p.Gly237Arg = EPMR or even milder" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170405" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170406" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170407" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170408" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170409" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170410" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170411" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170412" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170413" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170414" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170415" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170416" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170417" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170418" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170419" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170420" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170421" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170422" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170423" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170424" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170425" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170426" "3" "70" "8" "1719290" "1719290" "subst" "0.000105577" "00006" "CLN8_000056" "g.1719290C>G" "" "{PMID:Ranta 1999:10508524}, copied from {DB:CNL}" "" "p.Arg24Gly" "Founder effect for EPMR in Finland. carrier freq in Finland 1:1135; 1:146 in Kalnuu" "Germline" "" "rs104894064" "0" "" "" "g.1771124C>G" "" "likely pathogenic" "" "0000170427" "2" "70" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "R. Williams pers comm, copied from {DB:CNL}" "" "del 8p23.3 235 Kb" "maternal 8p23.3 235 Kb deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000170428" "3" "70" "8" "1719401" "1719403" "del" "0" "00006" "CLN8_000059" "g.1719401_1719403del" "" "{PMID:Vantaggiato 2009:19431184}, copied from {DB:CNL}" "" "p.Lys61del" "Maternal Uniparental Disomy" "Germline" "" "" "0" "" "" "g.1771235_1771237del" "" "likely pathogenic" "" "0000170429" "3" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Tyr158Cys" "siblings" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170430" "3" "90" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Kousi 2011:21990111}, copied from {DB:CNL}" "" "p.Tyr158Cys" "siblings" "Germline" "" "" "0" "" "" "g.1771527A>G" "" "pathogenic" "" "0000170431" "3" "70" "8" "1719266" "1719266" "" "0" "00006" "CLN8_000080" "g.[1719266C>A;1719729C>T]" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.[Leu16Met;Thr170Met]" "siblings; p.Leu16Met predicted benign" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000170432" "3" "70" "8" "1719266" "1719266" "" "0" "00006" "CLN8_000080" "g.[1719266C>A;1719729C>T]" "" "{PMID:Ranta 2004:15024724}, copied from {DB:CNL}" "" "p.[Leu16Met;Thr170Met]" "siblings; p.Leu16Met predicted benign" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000170433" "3" "70" "8" "1725850" "1728462" "del" "0" "00006" "CLN8_000067" "g.1725850_1728462del2613" "" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CNL}" "" "p.Ala182AspfsX49" "siblings; rapid progression; predicted p.(Ala182Aspfs*49) bu no transcipts or mutated alleles produced\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1777684_1780296del2613" "" "likely pathogenic" "" "0000170434" "3" "70" "8" "1725850" "1728462" "del" "0" "00006" "CLN8_000067" "g.1725850_1728462del2613" "" "{PMID:Reinhardt 2010:19807737}, copied from {DB:CNL}" "" "p.Ala182AspfsX49" "siblings; rapid progression; predicted p.(Ala182Aspfs*49) bu no transcipts or mutated alleles produced\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.1777684_1780296del2613" "" "likely pathogenic" "" "0000170435" "2" "70" "8" "1728453" "1728453" "subst" "0" "00006" "CLN8_000069" "g.1728453A>G" "" "{PMID:Cannelli 2006:16570191}, copied from {DB:CNL}" "" "p.Gln194Arg" "Slightly more severe phenotype" "Germline" "" "" "0" "" "" "g.1780287A>G" "" "likely pathogenic" "" "0000188465" "0" "50" "8" "1719273" "1719273" "subst" "0.000174604" "02192" "CLN8_000081" "g.1719273A>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs142104002" "0" "" "" "g.1771107A>T" "" "VUS" "" "0000252418" "0" "70" "8" "1719594" "1719594" "subst" "0.000950223" "02326" "CLN8_000025" "g.1719594A>G" "" "" "" "CLN8(NM_018941.3):c.374A>G (p.N125S), CLN8(NM_018941.4):c.374A>G (p.N125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771428A>G" "" "likely pathogenic" "" "0000252503" "0" "90" "8" "1719690" "1719690" "subst" "1.2182E-5" "02326" "CLN8_000030" "g.1719690A>G" "" "" "" "CLN8(NM_018941.3):c.470A>G (p.H157R), CLN8(NM_018941.4):c.470A>G (p.H157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771524A>G" "" "pathogenic" "" "0000266847" "0" "90" "8" "1719290" "1719290" "subst" "0.000105577" "02325" "CLN8_000056" "g.1719290C>G" "" "" "" "CLN8(NM_018941.4):c.70C>G (p.R24G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771124C>G" "" "pathogenic" "" "0000270298" "0" "30" "8" "1719094" "1719094" "subst" "0" "02326" "CLN8_000082" "g.1719094T>C" "" "" "" "CLN8(NM_018941.3):c.-123-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1770928T>C" "" "likely benign" "" "0000270299" "0" "10" "8" "1719494" "1719494" "subst" "0.00266376" "02326" "CLN8_000083" "g.1719494C>T" "" "" "" "CLN8(NM_018941.3):c.274C>T (p.H92Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771328C>T" "" "benign" "" "0000270300" "0" "10" "8" "1719770" "1719770" "subst" "0" "02326" "CLN8_000085" "g.1719770G>A" "" "" "" "CLN8(NM_018941.3):c.543+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771604G>A" "" "benign" "" "0000270301" "0" "30" "8" "1728533" "1728533" "subst" "4.46675E-5" "02326" "CLN8_000047" "g.1728533G>A" "" "" "" "CLN8(NM_018941.3):c.661G>A (p.G221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780367G>A" "" "likely benign" "" "0000270302" "0" "30" "8" "1728557" "1728557" "subst" "0.0173183" "02326" "CLN8_000049" "g.1728557C>G" "" "" "" "CLN8(NM_018941.3):c.685C>G (p.P229A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780391C>G" "" "likely benign" "" "0000273618" "0" "30" "8" "1719538" "1719538" "subst" "0.000125884" "01943" "CLN8_000084" "g.1719538C>T" "" "" "" "CLN8(NM_018941.3):c.318C>T (p.H106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771372C>T" "" "likely benign" "" "0000273619" "0" "10" "8" "1728649" "1728649" "subst" "0.00071077" "01943" "CLN8_000086" "g.1728649T>C" "" "" "" "CLN8(NM_018941.3):c.777T>C (p.N259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780483T>C" "" "benign" "" "0000273620" "0" "50" "8" "1728651" "1728651" "subst" "0.000219336" "01943" "CLN8_000087" "g.1728651C>T" "" "" "" "CLN8(NM_018941.3):c.779C>T (p.P260L), CLN8(NM_018941.4):c.779C>T (p.P260L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780485C>T" "" "VUS" "" "0000345315" "0" "50" "8" "1728678" "1728678" "subst" "0.000341611" "02327" "CLN8_000055" "g.1728678A>T" "" "" "" "CLN8(NM_018941.3):c.806A>T (p.E269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780512A>T" "" "VUS" "" "0000347019" "0" "50" "8" "1728584" "1728584" "subst" "0" "02327" "CLN8_000088" "g.1728584C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1780418C>G" "" "VUS" "" "0000534383" "0" "10" "8" "1719094" "1719094" "subst" "0" "01943" "CLN8_000082" "g.1719094T>C" "" "" "" "CLN8(NM_018941.3):c.-123-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1770928T>C" "" "benign" "" "0000534384" "0" "70" "8" "1719594" "1719594" "subst" "0.000950223" "01943" "CLN8_000025" "g.1719594A>G" "" "" "" "CLN8(NM_018941.3):c.374A>G (p.N125S), CLN8(NM_018941.4):c.374A>G (p.N125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1771428A>G" "" "likely pathogenic" "" "0000534385" "0" "50" "8" "1719626" "1719626" "subst" "1.62425E-5" "02327" "CLN8_000089" "g.1719626G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1771460G>T" "" "VUS" "" "0000534386" "0" "30" "8" "1719640" "1719640" "subst" "0" "01943" "CLN8_000090" "g.1719640C>G" "" "" "" "CLN8(NM_018941.3):c.420C>G (p.L140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1771474C>G" "" "likely benign" "" "0000534387" "0" "30" "8" "1728418" "1728418" "subst" "0.000437142" "01943" "CLN8_000091" "g.1728418G>A" "" "" "" "CLN8(NM_018941.3):c.546G>A (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1780252G>A" "" "likely benign" "" "0000534388" "0" "30" "8" "1728588" "1728588" "subst" "3.65456E-5" "01943" "CLN8_000092" "g.1728588C>T" "" "" "" "CLN8(NM_018941.3):c.716C>T (p.A239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1780422C>T" "" "likely benign" "" "0000534389" "0" "50" "8" "1728653" "1728653" "subst" "0" "02327" "CLN8_000093" "g.1728653G>A" "" "" "" "CLN8(NM_018941.4):c.781G>A (p.(Val261Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1780487G>A" "" "VUS" "" "0000534390" "0" "30" "8" "1728678" "1728678" "subst" "0.000341611" "01943" "CLN8_000055" "g.1728678A>T" "" "" "" "CLN8(NM_018941.3):c.806A>T (p.E269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1780512A>T" "" "likely benign" "" "0000652461" "1" "50" "8" "1728597" "1728597" "subst" "0.000402004" "03575" "CLN8_000094" "g.1728597C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous; {DB:CLININrs138821993}" "Germline" "" "rs138821993" "0" "" "" "g.1780431C>T" "" "VUS" "" "0000656059" "0" "30" "8" "1728649" "1728649" "subst" "0.00071077" "02326" "CLN8_000086" "g.1728649T>C" "" "" "" "CLN8(NM_018941.3):c.777T>C (p.N259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1780483T>C" "" "likely benign" "" "0000670003" "3" "50" "8" "1728597" "1728597" "subst" "0.000402004" "03575" "CLN8_000094" "g.1728597C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs138821993}" "Germline" "" "rs138821993" "0" "" "" "g.1780431C>T" "" "VUS" "" "0000678343" "0" "30" "8" "1728418" "1728418" "subst" "0.000437142" "02326" "CLN8_000091" "g.1728418G>A" "" "" "" "CLN8(NM_018941.3):c.546G>A (p.A182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683462" "3" "70" "8" "1719377" "1719377" "dup" "0" "03765" "CLN8_000096" "g.1719377dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683486" "3" "70" "8" "1728638" "1728638" "subst" "0" "03765" "CLN8_000095" "g.1728638C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000690212" "0" "50" "8" "1719266" "1719266" "subst" "2.43635E-5" "01943" "CLN8_000097" "g.1719266C>A" "" "" "" "CLN8(NM_018941.3):c.46C>A (p.L16M), CLN8(NM_018941.4):c.46C>A (p.L16M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690213" "0" "50" "8" "1719273" "1719273" "subst" "0.000174604" "01943" "CLN8_000081" "g.1719273A>T" "" "" "" "CLN8(NM_018941.3):c.53A>T (p.Y18F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721887" "0" "50" "8" "1712052" "1712052" "subst" "0" "01943" "CLN8_000098" "g.1712052G>C" "" "" "" "CLN8(NM_018941.3):c.-124+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721890" "0" "30" "8" "1719331" "1719331" "subst" "8.12209E-6" "01943" "CLN8_000099" "g.1719331C>T" "" "" "" "CLN8(NM_018941.3):c.111C>T (p.G37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721891" "0" "50" "8" "1719363" "1719363" "subst" "0" "01943" "CLN8_000100" "g.1719363C>G" "" "" "" "CLN8(NM_018941.3):c.143C>G (p.S48C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721892" "0" "50" "8" "1719594" "1719594" "subst" "0.000950223" "02325" "CLN8_000025" "g.1719594A>G" "" "" "" "CLN8(NM_018941.3):c.374A>G (p.N125S), CLN8(NM_018941.4):c.374A>G (p.N125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721893" "0" "70" "8" "1719690" "1719690" "subst" "1.2182E-5" "02329" "CLN8_000030" "g.1719690A>G" "" "" "" "CLN8(NM_018941.3):c.470A>G (p.H157R), CLN8(NM_018941.4):c.470A>G (p.H157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721894" "0" "50" "8" "1728651" "1728651" "subst" "0.000219336" "02329" "CLN8_000087" "g.1728651C>T" "" "" "" "CLN8(NM_018941.3):c.779C>T (p.P260L), CLN8(NM_018941.4):c.779C>T (p.P260L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786816" "3" "70" "8" "1719221" "1719221" "subst" "0" "00006" "CLN8_000101" "g.1719221A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.1771055A>C" "" "likely pathogenic" "" "0000787149" "3" "50" "8" "1719428" "1719428" "subst" "2.03102E-5" "00006" "CLN8_000060" "g.1719428C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs765097897" "0" "" "" "g.1771262C>T" "{CV-RCV:000201947.1}" "VUS" "" "0000787563" "3" "50" "8" "1719523" "1719523" "subst" "1.62425E-5" "00000" "CLN8_000102" "g.1719523C>G" "" "0" "" "" "" "Germline" "" "rs755831055" "0" "" "" "g.1771357C>G" "" "VUS" "" "0000795622" "3" "70" "8" "1728482" "1728482" "subst" "3.25074E-5" "00000" "CLN8_000070" "g.1728482C>T" "" "{PMID:Nair 2018:30293248}" "" "NM_018941.3:c.610C>T; p.Arg204Cys" "" "Unknown" "?" "rs104894060" "0" "" "" "g.1780316C>T" "" "likely pathogenic" "" "0000812894" "3" "70" "8" "1719693" "1719693" "subst" "1.21824E-5" "00000" "CLN8_000066" "g.1719693A>G" "" "{PMID:Jilani 2019:31741823}" "" "c.473A>G, p.(Tyr158Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.1771527A>G" "" "likely pathogenic" "" "0000812895" "3" "70" "8" "1719693" "1719693" "subst" "1.21824E-5" "00000" "CLN8_000066" "g.1719693A>G" "" "{PMID:Jilani 2019:31741823}" "" "c.473A>G, p.(Tyr158Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.1771527A>G" "" "likely pathogenic" "" "0000812896" "3" "70" "8" "1719693" "1719693" "subst" "1.21824E-5" "00000" "CLN8_000066" "g.1719693A>G" "" "{PMID:Jilani 2019:31741823}" "" "c.473A>G, p.(Tyr158Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.1771527A>G" "" "likely pathogenic" "" "0000851871" "0" "50" "8" "1719605" "1719605" "subst" "6.4973E-5" "01943" "CLN8_000103" "g.1719605C>T" "" "" "" "CLN8(NM_018941.3):c.385C>T (p.R129W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861149" "0" "30" "8" "1719773" "1719773" "subst" "0" "01943" "CLN8_000104" "g.1719773T>C" "" "" "" "CLN8(NM_018941.3):c.543+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888249" "0" "30" "8" "1719266" "1719266" "subst" "2.43635E-5" "02325" "CLN8_000097" "g.1719266C>A" "" "" "" "CLN8(NM_018941.3):c.46C>A (p.L16M), CLN8(NM_018941.4):c.46C>A (p.L16M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954957" "3" "50" "8" "1719693" "1719693" "subst" "1.21824E-5" "00006" "CLN8_000066" "g.1719693A>G" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.1771527A>G" "VCV000056710.1" "VUS" "" "0000978143" "0" "50" "8" "1719500" "1719500" "subst" "4.46675E-5" "01804" "CLN8_000105" "g.1719500G>A" "" "" "" "CLN8(NM_018941.4):c.280G>A (p.(Asp94Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986085" "1" "70" "8" "1719429" "1719429" "subst" "2.84317E-5" "00006" "CLN8_000061" "g.1719429G>A" "" "{PMID:Kousi 2011:21990111}" "" "" "" "Germline" "" "" "0" "" "" "g.1771263G>A" "" "likely pathogenic (recessive)" "" "0001012408" "3" "90" "8" "1719729" "1719729" "subst" "4.06253E-6" "00006" "CLN8_000106" "g.1719729C>G" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.1771563C>G" "" "pathogenic (recessive)" "" "0001012412" "3" "90" "8" "1728664" "1728664" "subst" "0" "00006" "CLN8_000107" "g.1728664C>G" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.1780498C>G" "" "pathogenic (recessive)" "" "0001036890" "0" "50" "8" "1728653" "1728653" "subst" "0" "01804" "CLN8_000093" "g.1728653G>A" "" "" "" "CLN8(NM_018941.4):c.781G>A (p.(Val261Met))" "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 CLN8 ## Count = 137 "{{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}}" "0000170350" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170351" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170352" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170353" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170354" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170355" "00001722" "70" "88" "0" "88" "0" "c.88del" "r.(?)" "p.(Ala30Leufs*20)" "" "0000170356" "00001722" "90" "470" "0" "470" "0" "c.470A>G" "r.(470a>g)" "p.(His157Arg)" "" "0000170357" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170358" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170359" "00001722" "70" "88" "0" "88" "0" "c.88G>C" "r.(88g>c)" "p.(Ala30Pro)" "" "0000170360" "00001722" "90" "611" "0" "611" "0" "c.611G>T" "r.(611g>u)" "p.(Arg204Leu)" "" "0000170361" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170362" "00001722" "70" "685" "0" "685" "0" "c.685C>G" "r.(685c>g)" "p.(Pro229Ala)" "" "0000170363" "00001722" "70" "685" "0" "685" "0" "c.685C>G" "r.(685c>g)" "p.(Pro229Ala)" "" "0000170364" "00001722" "70" "209" "0" "209" "0" "c.209G>A" "r.(209g>a)" "p.(Arg70His)" "" "0000170365" "00001722" "70" "209" "0" "209" "0" "c.209G>A" "r.(209g>a)" "p.(Arg70His)" "" "0000170366" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170367" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170369" "00001722" "70" "415" "0" "415" "0" "c.415C>T" "r.(415c>u)" "p.(His139Tyr)" "" "0000170370" "00001722" "70" "320" "8" "320" "8" "c.320+8C>T" "r.(=)" "p.(=)" "" "0000170371" "00001722" "70" "227" "0" "227" "0" "c.227A>G" "r.(227a>g)" "p.(Gln76Arg)" "" "0000170372" "00001722" "70" "637" "0" "639" "0" "c.637_639del" "r.(?)" "p.(Trp213del)" "" "0000170373" "00001722" "70" "320" "0" "320" "0" "c.320T>G" "r.(320u>g)" "p.(Ile107Ser)" "" "0000170374" "00001722" "70" "1497" "0" "1497" "0" "c.1497delT" "r.(?)" "p.Gly501AlafsX18" "" "0000170375" "00001722" "70" "374" "0" "374" "0" "c.374A>G" "r.(374a>g)" "p.(Asn125Ser)" "" "0000170376" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170377" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170378" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170379" "00001722" "10" "661" "0" "661" "0" "c.661G>A" "r.(661g>a)" "p.(Gly221Ser)" "" "0000170380" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170381" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170382" "00001722" "10" "806" "0" "806" "0" "c.806A>T" "r.(806a>u)" "p.(Glu269Val)" "" "0000170383" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170384" "00001722" "90" "610" "0" "610" "0" "c.610C>T" "r.(610c>u)" "p.(Arg204Cys)" "" "0000170385" "00001722" "70" "562" "0" "563" "0" "c.562_563del" "r.(?)" "p.(Leu188Valfs*58)" "" "0000170386" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170387" "00001722" "70" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "" "0000170388" "00001722" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Gln255*)" "" "0000170389" "00001722" "70" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Leu243Pro)" "" "0000170390" "00001722" "70" "" "0" "" "0" "del 54Kb" "r.(?)" "p.?" "" "0000170391" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170392" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170393" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170394" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170395" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170396" "00001722" "70" "789" "0" "789" "0" "c.789G>C" "r.(789g>c)" "p.(Trp263Cys)" "" "0000170397" "00001722" "70" "66" "0" "66" "0" "c.66del" "r.(?)" "p.(Ile23SerfsTer5)" "" "0000170398" "00001722" "70" "66" "0" "66" "0" "c.66del" "r.(?)" "p.(Ile23SerfsTer5)" "" "0000170399" "00001722" "70" "-305" "0" "8388607" "0" "c.(?_-305)_*144635289del" "r.0" "p.0" "" "0000170400" "00001722" "70" "766" "0" "766" "0" "c.766C>G" "r.(766c>g)" "p.(Gln256Glu)" "" "0000170401" "00001722" "70" "766" "0" "766" "0" "c.766C>G" "r.(766c>g)" "p.(Gln256Glu)" "" "0000170402" "00001722" "70" "766" "0" "766" "0" "c.766C>G" "r.(766c>g)" "p.(Gln256Glu)" "" "0000170403" "00001722" "70" "709" "0" "709" "0" "c.709G>A" "r.(709g>a)" "p.(Gly237Arg)" "" "0000170404" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170405" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170406" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170407" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170408" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170409" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170410" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170411" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170412" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170413" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170414" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170415" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170416" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170417" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170418" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170419" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170420" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170421" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170422" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170423" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170424" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170425" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170426" "00001722" "70" "70" "0" "70" "0" "c.70C>G" "r.(70c>g)" "p.(Arg24Gly)" "" "0000170427" "00001722" "70" "" "0" "" "0" "del 8p23.3" "r.(?)" "p.?" "" "0000170428" "00001722" "70" "181" "0" "183" "0" "c.181_183del" "r.(?)" "p.(Lys61del)" "" "0000170429" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170430" "00001722" "90" "473" "0" "473" "0" "c.473A>G" "r.(473a>g)" "p.(Tyr158Cys)" "" "0000170431" "00001722" "70" "46" "0" "46" "0" "c.[46C>A;509C>T]" "r.[46c>a; 509c>u]" "p.[Leu16Met;Thr170Met]" "" "0000170432" "00001722" "70" "46" "0" "46" "0" "c.[46C>A;509C>T]" "r.[46c>a; 509c>u]" "p.[Leu16Met;Thr170Met]" "" "0000170433" "00001722" "70" "544" "-2566" "590" "0" "c.544-2566_590del2613" "r.0" "p.0" "" "0000170434" "00001722" "70" "544" "-2566" "590" "0" "c.544-2566_590del2613" "r.0" "p.0" "" "0000170435" "00001722" "70" "581" "0" "581" "0" "c.581A>G" "r.(581a>g)" "p.(Gln194Arg)" "" "0000188465" "00001722" "00" "53" "0" "53" "0" "c.53A>T" "r.(?)" "p.(Tyr18Phe)" "" "0000252418" "00001722" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000252503" "00001722" "90" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(His157Arg)" "" "0000266847" "00001722" "90" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Arg24Gly)" "" "0000270298" "00001722" "30" "-123" "-4" "-123" "-4" "c.-123-4T>C" "r.spl?" "p.?" "" "0000270299" "00001722" "10" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(His92Tyr)" "" "0000270300" "00001722" "10" "543" "7" "543" "7" "c.543+7G>A" "r.(=)" "p.(=)" "" "0000270301" "00001722" "30" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Gly221Ser)" "" "0000270302" "00001722" "30" "685" "0" "685" "0" "c.685C>G" "r.(?)" "p.(Pro229Ala)" "" "0000273618" "00001722" "30" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(His106=)" "" "0000273619" "00001722" "10" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Asn259=)" "" "0000273620" "00001722" "50" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "" "0000345315" "00001722" "50" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Glu269Val)" "" "0000347019" "00001722" "50" "712" "0" "712" "0" "c.712C>G" "r.(?)" "p.(Leu238Val)" "" "0000534383" "00001722" "10" "-123" "-4" "-123" "-4" "c.-123-4T>C" "r.spl?" "p.?" "" "0000534384" "00001722" "70" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000534385" "00001722" "50" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Val136Phe)" "" "0000534386" "00001722" "30" "420" "0" "420" "0" "c.420C>G" "r.(?)" "p.(Leu140=)" "" "0000534387" "00001722" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ala182=)" "" "0000534388" "00001722" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Ala239Val)" "" "0000534389" "00001722" "50" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" "0000534390" "00001722" "30" "806" "0" "806" "0" "c.806A>T" "r.(?)" "p.(Glu269Val)" "" "0000652461" "00001722" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "0000656059" "00001722" "30" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Asn259=)" "" "0000670003" "00001722" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "0000678343" "00001722" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ala182=)" "" "0000683462" "00001722" "70" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Tyr53Leufs*65)" "2" "0000683486" "00001722" "70" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Gln256*)" "3" "0000690212" "00001722" "50" "46" "0" "46" "0" "c.46C>A" "r.(?)" "p.(Leu16Met)" "" "0000690213" "00001722" "50" "53" "0" "53" "0" "c.53A>T" "r.(?)" "p.(Tyr18Phe)" "" "0000721887" "00001722" "50" "-124" "1" "-124" "1" "c.-124+1G>C" "r.spl?" "p.?" "" "0000721890" "00001722" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Gly37=)" "" "0000721891" "00001722" "50" "143" "0" "143" "0" "c.143C>G" "r.(?)" "p.(Ser48Cys)" "" "0000721892" "00001722" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000721893" "00001722" "70" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(His157Arg)" "" "0000721894" "00001722" "50" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "" "0000786816" "00001722" "70" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "2" "0000787149" "00001722" "50" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Cys)" "2" "0000787563" "00001722" "50" "303" "0" "303" "0" "c.303C>G" "r.(?)" "p.(Asn101Lys)" "2" "0000795622" "00001722" "70" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "" "0000812894" "00001722" "70" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Tyr158Cys)" "" "0000812895" "00001722" "70" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Tyr158Cys)" "" "0000812896" "00001722" "70" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Tyr158Cys)" "" "0000851871" "00001722" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Trp)" "" "0000861149" "00001722" "30" "543" "10" "543" "10" "c.543+10T>C" "r.(=)" "p.(=)" "" "0000888249" "00001722" "30" "46" "0" "46" "0" "c.46C>A" "r.(?)" "p.(Leu16Met)" "" "0000954957" "00001722" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Tyr158Cys)" "" "0000978143" "00001722" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Asp94Asn)" "" "0000986085" "00001722" "70" "209" "0" "209" "0" "c.209G>A" "r.(209g>a)" "p.(Arg70His)" "" "0001012408" "00001722" "90" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Thr170Arg)" "" "0001012412" "00001722" "90" "792" "0" "792" "0" "c.792C>G" "r.(?)" "p.(Asn264Lys)" "" "0001036890" "00001722" "50" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Val261Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 101 "{{screeningid}}" "{{variantid}}" "0000105078" "0000170405" "0000105079" "0000170406" "0000105080" "0000170407" "0000105081" "0000170408" "0000105082" "0000170409" "0000105083" "0000170410" "0000105084" "0000170411" "0000105085" "0000170412" "0000105086" "0000170413" "0000105087" "0000170414" "0000105088" "0000170415" "0000105089" "0000170416" "0000105090" "0000170417" "0000105091" "0000170418" "0000105092" "0000170419" "0000105093" "0000170420" "0000105094" "0000170421" "0000105095" "0000170422" "0000105096" "0000170423" "0000105097" "0000170424" "0000105098" "0000170425" "0000105099" "0000170426" "0000105100" "0000170391" "0000105101" "0000170392" "0000105102" "0000170393" "0000105103" "0000170350" "0000105104" "0000170351" "0000105105" "0000170394" "0000105106" "0000170352" "0000105107" "0000170395" "0000105108" "0000170404" "0000105109" "0000170403" "0000105110" "0000170353" "0000105111" "0000170354" "0000105112" "0000170431" "0000105113" "0000170432" "0000105114" "0000170355" "0000105115" "0000170356" "0000105116" "0000170357" "0000105117" "0000170397" "0000105118" "0000170435" "0000105119" "0000170398" "0000105120" "0000170358" "0000105121" "0000170359" "0000105122" "0000170428" "0000105123" "0000170360" "0000105124" "0000170361" "0000105125" "0000170433" "0000105126" "0000170434" "0000105127" "0000170400" "0000105128" "0000170401" "0000105129" "0000170402" "0000105130" "0000170362" "0000105131" "0000170363" "0000105132" "0000170364" "0000105133" "0000170365" "0000105134" "0000170366" "0000105135" "0000170367" "0000105137" "0000170369" "0000105137" "0000986085" "0000105138" "0000170370" "0000105139" "0000170371" "0000105140" "0000170372" "0000105141" "0000170373" "0000105142" "0000170374" "0000105143" "0000170375" "0000105144" "0000170376" "0000105145" "0000170377" "0000105146" "0000170378" "0000105147" "0000170379" "0000105148" "0000170380" "0000105149" "0000170381" "0000105150" "0000170382" "0000105151" "0000170383" "0000105152" "0000170384" "0000105153" "0000170396" "0000105154" "0000170429" "0000105155" "0000170430" "0000105156" "0000170385" "0000105157" "0000170399" "0000105158" "0000170386" "0000105159" "0000170387" "0000105160" "0000170388" "0000105161" "0000170427" "0000105162" "0000170389" "0000105163" "0000170390" "0000117358" "0000188465" "0000295772" "0000652461" "0000306315" "0000670003" "0000309016" "0000683462" "0000309037" "0000683486" "0000375465" "0000786816" "0000375798" "0000787149" "0000375855" "0000787563" "0000381988" "0000795622" "0000385776" "0000812894" "0000385777" "0000812895" "0000385778" "0000812896" "0000446604" "0000954957" "0000457861" "0001012408" "0000457865" "0001012412"