### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLN6) # 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}}" "CLN6" "ceroid-lipofuscinosis, neuronal 6, late infantile, variant" "15" "q23" "unknown" "NG_008764.2" "UD_132118823202" "" "http://www.LOVD.nl/CLN6" "" "1" "2077" "54982" "606725" "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." "" "g" "http://databases.lovd.nl/shared/refseq/CLN6_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-04-03 14:27:15" "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}}" "00005320" "CLN6" "ceroid-lipofuscinosis, neuronal 6, late infantile, variant" "001" "NM_017882.2" "" "NP_060352.1" "" "" "" "-158" "2084" "936" "68522080" "68499330" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01648" "CLN4A" "lipofuscinosis, ceroid, neuronal, autosomal recessive,type 4A, Kufs type (CLN-4A)" "AR" "204300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02390" "CLN6" "lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)" "AR" "601780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03514" "EPM6" "epilepsy, myoclonic, progressive, type 6 (EPM-6)" "AR" "614018" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CLN6" "01648" "CLN6" "02390" "CLN6" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00050580" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00060287" "" "" "" "4" "" "00006" "{PMID:Faruq 2014:24102492}, {DOI:Faruq 2014:10.1111/cge.12279}" "2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs" "F;M" "no" "India" "" "0" "" "" "" "" "00080982" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080994" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081073" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00150147" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5270" "00269900" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00291286" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291287" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291288" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295154" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307826" "" "" "" "1" "" "03765" "" "" "M" "?" "Jordan" "" "" "" "" "" "?" "00307827" "" "" "" "1" "" "03765" "" "" "M" "yes" "United Arab Emirates" "" "" "" "" "" "?" "00307828" "" "" "" "1" "" "03765" "" "" "M" "?" "Egypt" "" "" "" "" "" "?" "00307829" "" "" "" "1" "" "03765" "" "" "F" "yes" "Egypt" "" "" "" "" "" "?" "00307830" "" "" "" "1" "" "03765" "" "" "M" "?" "Egypt" "" "" "" "" "" "?" "00307831" "" "" "" "1" "" "03765" "" "" "M" "yes" "Egypt" "" "" "" "" "" "?" "00307832" "" "" "" "1" "" "03765" "" "" "F" "yes" "Iran" "" "" "" "" "" "?" "00307833" "" "" "" "1" "" "03765" "" "" "M" "yes" "Iran" "" "" "" "" "" "?" "00307834" "" "" "" "1" "" "03765" "" "" "F" "?" "Egypt" "" "" "" "" "" "?" "00307835" "" "" "" "1" "" "03765" "" "" "M" "yes" "Egypt" "" "" "" "" "" "?" "00307836" "" "" "" "1" "" "03765" "" "" "M" "yes" "Tunisia" "" "" "" "" "" "?" "00308745" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00314868" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio27" "00334904" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "yes" "Italy" "" "0" "" "" "" "PME15" "00374269" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3555" "00374270" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3731" "00374603" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0691" "00383480" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "6A" "00383481" "" "" "" "1" "" "00000" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "?" "" "France" "" "0" "" "" "" "6B" "00384512" "" "" "" "1" "" "00000" "{PMID:Ren 2019:31105743}" "AR" "M" "no" "China" "" "0" "" "" "" "3" "00384541" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "" "F" "yes" "" "" "0" "" "" "" "21" "00384542" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "proband 21, family b" "M" "?" "" "44y" "0" "" "" "" "22b" "00384543" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "sibling of proband 21, family b" "F" "?" "" "" "0" "" "" "" "23b" "00384544" "" "" "" "1" "" "00000" "{PMID:Jilani 2019:31741823}" "sibling of proband 21, family b" "F" "?" "" "40y" "0" "" "" "" "24b" "00388287" "" "" "" "1" "" "00000" "{PMID:Kozina 2020:32412666}" "" "M" "no" "Russia" "" "0" "" "" "" "2" "00403875" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF080" "00456224" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat2" "00456256" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat34" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00050580" "00198" "00060287" "02390" "00080982" "02390" "00080994" "02390" "00081073" "02390" "00150147" "00198" "00269900" "00198" "00291286" "00198" "00291287" "00198" "00291288" "00198" "00295154" "00198" "00307826" "02390" "00307827" "02390" "00307828" "02390" "00307829" "02390" "00307830" "02390" "00307831" "02390" "00307832" "02390" "00307833" "02390" "00307834" "02390" "00307835" "02390" "00307836" "02390" "00308745" "00000" "00314868" "00198" "00334904" "03514" "00374269" "00198" "00374270" "00198" "00374603" "00198" "00383480" "05258" "00383481" "05258" "00384512" "04214" "00384541" "05258" "00384542" "05258" "00384543" "05258" "00384544" "05258" "00388287" "05258" "00403875" "05611" "00456224" "00198" "00456256" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01648, 02390, 03514, 04214, 05258, 05611 ## Count = 34 "{{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}}" "0000037192" "00198" "00050580" "00006" "Unknown" "" "patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples" "" "" "" "" "" "" "" "" "" "" "" "0000046785" "02390" "00060287" "00006" "Familial, autosomal recessive" "" "see paper; juvenile onset cerebellar ataxia with seizures (JCS), ..." "" "" "" "" "" "" "" "" "" "" "" "0000060551" "02390" "00080982" "01758" "Familial, autosomal recessive" "" "ceroid lipofuscinosis, neuronal" "" "" "" "" "" "" "" "" "CLN6" "" "" "0000060563" "02390" "00080994" "01758" "Familial, autosomal recessive" "" "ceroid lipofuscinosis, neuronal" "" "" "" "" "" "" "" "" "CLN6" "" "" "0000060642" "02390" "00081073" "01758" "Familial, autosomal recessive" "" "ceroid lipofuscinosis, neuronal" "" "" "" "" "" "" "" "" "CLN6" "" "" "0000122549" "00198" "00150147" "00006" "Familial, autosomal recessive" "" "intellectual diability, cerebellar atrophy, ataxia, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "0000207696" "00198" "00269900" "01807" "Unknown" "" "Developmental regression (HP:0002376); Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Myoclonic atonic seizures (HP:0011170); Progressive cerebellar ataxia (HP:0002073); Autistic behavior (HP:0000729); Inability to walk (HP:0002540); Progressive hearing impairment (HP:0001730); Progressive visual loss (HP:0000529); Cerebral cortical atrophy (HP:0002120)" "" "" "" "" "" "" "" "" "" "" "" "0000233266" "02390" "00307826" "03765" "Familial, autosomal recessive" "" "HP:0001250,HP:0001263,HP:0002376,HP:0011344" "" "" "" "" "" "" "" "" "" "" "" "0000233267" "02390" "00307827" "03765" "Familial, autosomal recessive" "" "HP:0000505,HP:0001250,HP:0001260,HP:0001332,HP:0001336,HP:0002180,HP:0002376,HP:0002518,HP:0007305,HP:0012444" "" "08y03m" "" "" "" "" "" "" "" "" "" "0000233269" "02390" "00307828" "03765" "Familial, autosomal recessive" "" "HP:0000280,HP:0001249,HP:0001251,HP:0001257,HP:0001260,HP:0010729" "" "05y07m" "" "" "" "" "" "" "" "" "" "0000233270" "02390" "00307829" "03765" "Familial, autosomal recessive" "" "HP:0000329,HP:0000750,HP:0001270,HP:0002120,HP:0002123,HP:0002194,HP:0002376,HP:0012444" "" "07y02m" "" "" "" "" "" "" "" "" "" "0000233271" "02390" "00307830" "03765" "Familial, autosomal recessive" "" "HP:0001251, \t HP:0001268, HP:0000752\r\n\r\nHP:0002273" "" "04y06m" "" "" "" "" "" "" "" "" "" "0000233272" "02390" "00307831" "03765" "Familial, autosomal recessive" "" "HP:0000543,HP:0001317,HP:0002353,HP:0100704" "" "06y03m" "" "" "" "" "" "" "" "" "" "0000233273" "02390" "00307832" "03765" "Familial, autosomal recessive" "" "HP:0000365,HP:0000608,HP:0000618,HP:0000639,HP:0000648,HP:0000707,HP:0000750,HP:0000952,HP:0001250,HP:0001251,HP:0001272,HP:0002066,HP:0002073,HP:0002376,HP:0007018,HP:0011004,HP:0011170" "" "04y10m" "" "" "" "" "" "" "" "" "" "0000233274" "02390" "00307833" "03765" "Familial, autosomal recessive" "" "HP:0000505,HP:0000733,HP:0000748,HP:0000952,HP:0001028,HP:0001249,HP:0001250,HP:0001252,HP:0001508,HP:0001653,HP:0002180,HP:0002280,HP:0002376,HP:0002465,HP:0004488,HP:0006579,HP:0007018,HP:0007360,HP:0007461,HP:0012501" "" "05y05m" "" "" "" "" "" "" "" "" "" "0000233275" "02390" "00307834" "03765" "Familial, autosomal recessive" "" "HP:0001250, HP:0001263" "" "06y07m" "" "" "" "" "" "" "" "" "" "0000233276" "02390" "00307835" "03765" "Familial, autosomal recessive" "" "HP:0001263,HP:0001272,HP:0002376" "02y09m" "05y02m" "" "" "" "" "" "" "" "" "" "0000233277" "02390" "00307836" "03765" "Familial, autosomal recessive" "" "HP:0000324,HP:0000325,HP:0000426,HP:0000494,HP:0000750,HP:0001249,HP:0001250,HP:0001251,HP:0001270,HP:0001272,HP:0001321,HP:0001999,HP:0002353,HP:0002376,HP:0002415,HP:0002515,HP:0003781,HP:0006808,HP:0007359,HP:0011185,HP:0012447" "03y" "05y09m" "" "" "" "" "" "" "" "" "" "0000238626" "00198" "00314868" "00006" "Familial, autosomal recessive" "10y" "Healthy until 3.5 years then epilepsy with drop attacks, blindness (retinitis pigmentosa)." "4y" "" "" "" "" "" "" "" "" "" "" "0000257411" "03514" "00334904" "00006" "Familial, autosomal recessive" "" "Onset age 14 of ataxia. Severe myoclonus from age 32, TCS, moderate dementia. Dysphagia and pyramidal signs noted. Psychiatric co-morbidities. Severe cerebral, moderate cerebellar atrophy. EEG: photoparoxysmal response." "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , dementia" "" "0000269479" "00198" "00374269" "00006" "Familial, autosomal recessive" "" "Myoclonic epilepsy and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000269480" "00198" "00374270" "00006" "Familial, autosomal recessive" "" "Neuroregression, cerebellar ataxia, cerebral atrophy, abnormal gait and myoclonic jerks" "" "" "" "" "" "" "" "" "" "neuronal ceroid lipofuscinosis" "" "0000269813" "00198" "00374603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, intellectual disability" "" "0000277265" "05258" "00383480" "00000" "Familial, autosomal recessive" "" "retinal dysfunction on ERG, VEP results: atypical" "" "6y" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)" "" "0000277266" "05258" "00383481" "00000" "Familial, autosomal recessive" "" "VEP results: ample" "" "4y7m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)" "" "0000278297" "04214" "00384512" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Late-infantile neuronal ceroid lipofuscinosis" "" "" "0000278325" "05258" "00384541" "00000" "Familial, autosomal recessive" "10y" "" "4y" "" "Progressive motor and cognitive dysfunction" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6" "lipofuscinosis, ceroid, neuronal" "" "0000278326" "05258" "00384542" "00000" "Familial, autosomal recessive" "44y" "" "31y" "" "Lower limb pain" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6" "lipofuscinosis, ceroid, neuronal" "" "0000278327" "05258" "00384543" "00000" "Familial, autosomal recessive" "55y" "" "25y" "" "Lower limb pain" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6" "lipofuscinosis, ceroid, neuronal" "" "0000278328" "05258" "00384544" "00000" "Familial, autosomal recessive" "40y" "" "20y" "" "Epilepsy" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6" "lipofuscinosis, ceroid, neuronal" "" "0000281842" "05258" "00388287" "00000" "Familial, autosomal recessive" "5y" "Cognitive and motor deterioration, myoclonus, MRI signs of cerebellar cortex atrophy, weight loss" "3y6m" "" "" "" "" "" "" "" "lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)" "lipofuscinosis, ceroid, neuronal (CLN)" "" "0000296555" "05611" "00403875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000344743" "00198" "00456224" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "4y" "" "" "" "" "" "" "" "CLN6" "lysosomal storage disorder" "" "0000344775" "00198" "00456256" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050525" "00050580" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060276" "00060287" "1" "00006" "00006" "2016-03-27 18:18:02" "" "" "SEQ-NG" "DNA" "" "" "0000081094" "00080982" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081106" "00080994" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081185" "00081073" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000151002" "00150147" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000271053" "00269900" "1" "01807" "01807" "2019-12-10 12:32:11" "" "" "SEQ" "DNA" "" "" "0000292454" "00291286" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292455" "00291287" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292456" "00291288" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296322" "00295154" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308968" "00307826" "1" "03765" "03765" "2020-08-18 17:17:23" "" "" "SEQ-NG" "DNA" "" "" "0000308969" "00307827" "1" "03765" "03765" "2020-08-18 17:37:58" "" "" "MLPA" "DNA" "" "" "0000308970" "00307828" "1" "03765" "03765" "2020-08-18 17:51:01" "" "" "SEQ-NG" "DNA" "" "CES" "0000308971" "00307829" "1" "03765" "03765" "2020-08-18 18:02:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000308972" "00307830" "1" "03765" "03765" "2020-08-18 18:26:54" "" "" "SEQ-NG" "DNA" "" "" "0000308973" "00307831" "1" "03765" "03765" "2020-08-18 18:41:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000308974" "00307832" "1" "03765" "03765" "2020-08-18 19:05:25" "" "" "SEQ" "DNA" "" "" "0000308975" "00307833" "1" "03765" "03765" "2020-08-18 19:08:57" "" "" "SEQ" "DNA" "" "" "0000308976" "00307834" "1" "03765" "03765" "2020-08-18 19:14:28" "" "" "SEQ-NG" "DNA" "" "" "0000308977" "00307835" "1" "03765" "03765" "2020-08-18 19:24:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000308978" "00307836" "1" "03765" "03765" "2020-08-18 19:34:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000309890" "00308745" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000316042" "00314868" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000336133" "00334904" "1" "03286" "03286" "2021-03-02 12:27:22" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" "0000375463" "00374269" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375464" "00374270" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375797" "00374603" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000384705" "00383480" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000384706" "00383481" "1" "00000" "03840" "2021-09-29 11:58:04" "" "" "?" "?" "" "" "0000385737" "00384512" "1" "00000" "03840" "2021-09-29 13:26:10" "" "" "SEQ-NG;SEQ" "DNA" "blood" "WES" "0000385766" "00384541" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385767" "00384542" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385768" "00384543" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000385769" "00384544" "1" "00000" "03840" "2021-09-29 17:43:05" "" "" "SEQ" "DNA" "" "" "0000389528" "00388287" "1" "00000" "03840" "2021-11-03 15:22:26" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000405113" "00403875" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000457841" "00456224" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457873" "00456256" "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 = 29 "{{screeningid}}" "{{geneid}}" "0000060276" "CLN6" "0000081094" "CLN6" "0000081106" "CLN6" "0000081185" "CLN6" "0000151002" "CLN6" "0000308968" "CLN6" "0000308969" "CLN6" "0000308970" "CLN6" "0000308971" "CLN6" "0000308972" "CLN6" "0000308973" "CLN6" "0000308974" "CLN6" "0000308975" "CLN6" "0000308976" "CLN6" "0000308977" "CLN6" "0000308978" "CLN6" "0000309890" "CLN6" "0000316042" "CLN6" "0000375463" "CLN6" "0000375464" "CLN6" "0000375797" "CLN6" "0000384705" "CLN6" "0000384706" "CLN6" "0000385737" "CLN6" "0000385766" "CLN6" "0000385767" "CLN6" "0000385768" "CLN6" "0000385769" "CLN6" "0000389528" "CLN6" ## 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 = 86 "{{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}}" "0000079505" "0" "90" "15" "67629083" "72199082" "del" "0" "00006" "MAP2K5_000011" "g.67629083_72199082del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000091295" "21" "90" "15" "68506673" "68506673" "subst" "0" "00006" "CLN6_000001" "g.68506673G>C" "" "{PMID:Faruq 2014:24102492}, {DOI:Faruq 2014:10.1111/cge.12279}" "" "Y84X" "" "Germline" "yes" "" "0" "" "" "g.68214335G>C" "" "pathogenic" "" "0000091296" "10" "70" "15" "68500648" "68500648" "subst" "0" "00006" "CLN6_000002" "g.68500648C>T" "" "{PMID:Faruq 2014:24102492}, {DOI:Faruq 2014:10.1111/cge.12279}" "" "D256E" "" "Germline" "yes" "" "0" "" "" "g.68208310C>T" "" "likely pathogenic" "" "0000130180" "3" "70" "15" "68521913" "68521923" "del" "0" "01758" "CLN6_000004" "g.68521913_68521923del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68229575_68229585del" "" "likely pathogenic" "ACMG" "0000130192" "3" "90" "15" "68500623" "68500625" "del" "0" "01758" "CLN6_000005" "g.68500623_68500625del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68208285_68208287del" "" "pathogenic" "ACMG" "0000130271" "3" "70" "15" "68501978" "68501978" "subst" "2.44053E-5" "01758" "CLN6_000003" "g.68501978T>G" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.68209640T>G" "" "likely pathogenic" "ACMG" "0000244158" "3" "90" "15" "68504092" "68504092" "subst" "4.06329E-5" "00006" "CLN6_000006" "g.68504092C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_017882: c.G407A; p.R136H" "" "Germline" "" "" "0" "" "" "g.68211754C>T" "" "pathogenic" "" "0000252248" "0" "30" "15" "68503664" "68503664" "subst" "0.000289831" "02326" "CLN6_000009" "g.68503664A>G" "" "" "" "CLN6(NM_017882.3):c.487-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68211326A>G" "" "likely benign" "" "0000266845" "0" "30" "15" "68521889" "68521889" "subst" "0.00997207" "02325" "CLN6_000018" "g.68521889C>T" "" "" "" "CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68229551C>T" "" "likely benign" "" "0000266846" "0" "50" "15" "68521918" "68521918" "subst" "0.000302313" "02325" "CLN6_000019" "g.68521918T>C" "" "" "" "CLN6(NM_017882.2):c.5A>G (p.E2G), CLN6(NM_017882.3):c.5A>G (p.E2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68229580T>C" "" "VUS" "" "0000270291" "0" "30" "15" "68506711" "68506711" "subst" "0.00263151" "02326" "CLN6_000015" "g.68506711C>G" "" "" "" "CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68214373C>G" "" "likely benign" "" "0000270292" "0" "50" "15" "68506684" "68506684" "subst" "0" "02326" "CLN6_000014" "g.68506684C>A" "" "" "" "CLN6(NM_017882.3):c.241G>T (p.V81F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68214346C>A" "" "VUS" "" "0000270293" "0" "30" "15" "68504207" "68504207" "subst" "0.007652" "02326" "CLN6_000012" "g.68504207G>A" "" "" "" "CLN6(NM_017882.3):c.298-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68211869G>A" "" "likely benign" "" "0000270294" "0" "30" "15" "68504160" "68504160" "subst" "0.000329359" "02326" "CLN6_000011" "g.68504160C>T" "" "" "" "CLN6(NM_017882.3):c.339G>A (p.T113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68211822C>T" "" "likely benign" "" "0000270295" "0" "30" "15" "68521889" "68521889" "subst" "0.00997207" "02326" "CLN6_000018" "g.68521889C>T" "" "" "" "CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68229551C>T" "" "likely benign" "" "0000270296" "0" "30" "15" "68504005" "68504005" "subst" "0.012209" "02326" "CLN6_000010" "g.68504005G>A" "" "" "" "CLN6(NM_017882.3):c.486+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68211667G>A" "" "likely benign" "" "0000270297" "0" "30" "15" "68500491" "68500491" "subst" "0.0018779" "02326" "CLN6_000007" "g.68500491C>G" "" "" "" "CLN6(NM_017882.2):c.923G>C (p.S308T), CLN6(NM_017882.3):c.923G>C (p.S308T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68208153C>G" "" "likely benign" "" "0000273613" "0" "30" "15" "68506712" "68506712" "subst" "0.000109646" "01943" "CLN6_000016" "g.68506712G>C" "" "" "" "CLN6(NM_017882.2):c.213C>G (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68214374G>C" "" "likely benign" "" "0000273614" "0" "10" "15" "68506711" "68506711" "subst" "0.00263151" "01943" "CLN6_000015" "g.68506711C>G" "" "" "" "CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68214373C>G" "" "benign" "" "0000273615" "0" "50" "15" "68506666" "68506666" "subst" "2.84241E-5" "01943" "CLN6_000013" "g.68506666T>C" "" "" "" "CLN6(NM_017882.2):c.259A>G (p.M87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68214328T>C" "" "VUS" "" "0000273616" "0" "10" "15" "68500645" "68500645" "subst" "0.000962835" "01943" "CLN6_000008" "g.68500645T>C" "" "" "" "CLN6(NM_017882.2):c.769A>G (p.S257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68208307T>C" "" "benign" "" "0000273617" "0" "30" "15" "68500491" "68500491" "subst" "0.0018779" "01943" "CLN6_000007" "g.68500491C>G" "" "" "" "CLN6(NM_017882.2):c.923G>C (p.S308T), CLN6(NM_017882.3):c.923G>C (p.S308T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68208153C>G" "" "likely benign" "" "0000341691" "0" "50" "15" "68504183" "68504183" "subst" "7.33592E-5" "02327" "CLN6_000020" "g.68504183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68211845G>A" "" "VUS" "" "0000342546" "0" "70" "15" "68521840" "68521840" "subst" "0" "02327" "CLN6_000021" "g.68521840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68229502C>T" "" "likely pathogenic" "" "0000348886" "0" "50" "15" "68500623" "68500625" "del" "0" "02327" "CLN6_000005" "g.68500623_68500625del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68208285_68208287del" "" "VUS" "" "0000555254" "0" "50" "15" "68500639" "68500659" "del" "0" "02327" "CALML4_000003" "g.68500639_68500659del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68208301_68208321del" "" "VUS" "" "0000555257" "0" "10" "15" "68506835" "68506835" "dup" "0" "02326" "CLN6_000022" "g.68506835dup" "" "" "" "CLN6(NM_017882.3):c.199-104dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68214497dup" "" "benign" "" "0000555258" "0" "50" "15" "68510972" "68510972" "subst" "0.00023574" "01943" "CLN6_000023" "g.68510972C>T" "" "" "" "CLN6(NM_017882.2):c.100G>A (p.A34T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68218634C>T" "" "VUS" "" "0000555259" "0" "30" "15" "68521859" "68521859" "subst" "0.000453789" "01804" "CLN6_000024" "g.68521859C>A" "" "" "" "CLN6(NM_017882.2):c.64G>T (p.(Ala22Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68229521C>A" "" "likely benign" "" "0000555261" "0" "30" "15" "68521870" "68521870" "subst" "0.000163827" "01804" "CLN6_000026" "g.68521870G>A" "" "" "" "CLN6(NM_017882.2):c.53C>T (p.(Ala18Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68229532G>A" "" "likely benign" "" "0000555262" "0" "30" "15" "68521889" "68521889" "subst" "0.00997207" "01804" "CLN6_000018" "g.68521889C>T" "" "" "" "CLN6(NM_017882.2):c.34G>A (p.(Ala12Thr)), CLN6(NM_017882.3):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68229551C>T" "" "likely benign" "" "0000615479" "0" "50" "15" "68504053" "68504053" "subst" "3.25137E-5" "01943" "CLN6_000027" "g.68504053C>T" "" "" "" "CLN6(NM_017882.2):c.446G>A (p.R149H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68211715C>T" "" "VUS" "" "0000615480" "0" "30" "15" "68506711" "68506711" "subst" "0.00263151" "01804" "CLN6_000015" "g.68506711C>G" "" "" "" "CLN6(NM_017882.2):c.214G>C (p.E72Q, p.(Glu72Gln)), CLN6(NM_017882.3):c.214G>C (p.E72Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68214373C>G" "" "likely benign" "" "0000615481" "0" "30" "15" "68521874" "68521874" "subst" "0.000822779" "01943" "CLN6_000028" "g.68521874C>T" "" "" "" "CLN6(NM_017882.2):c.49G>A (p.G17S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68229536C>T" "" "likely benign" "" "0000623287" "0" "50" "15" "68521912" "68521912" "subst" "0" "02325" "CLN6_000029" "g.68521912G>A" "" "" "" "CLN6(NM_017882.3):c.11C>T (p.T4M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68229574G>A" "" "VUS" "" "0000624901" "3" "70" "15" "68500623" "68500625" "del" "0" "01807" "CLN6_000005" "g.68500623_68500625del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.68208285_68208287del" "" "likely pathogenic" "" "0000649143" "1" "50" "15" "68504191" "68504191" "subst" "1.63034E-5" "03575" "CLN6_000030" "g.68504191C>T" "11/2715 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs154774634}" "Germline" "" "rs154774634" "0" "" "" "g.68211853C>T" "" "VUS" "" "0000649144" "1" "50" "15" "68504192" "68504192" "subst" "3.6711E-5" "03575" "CLN6_000031" "g.68504192G>A" "3/2748 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201095412}" "Germline" "" "rs201095412" "0" "" "" "g.68211854G>A" "" "VUS" "" "0000649145" "1" "50" "15" "68504195" "68504195" "subst" "0" "03575" "CLN6_000032" "g.68504195C>T" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs796052352}" "Germline" "" "rs796052352" "0" "" "" "g.68211857C>T" "" "VUS" "" "0000653011" "1" "30" "15" "68504005" "68504005" "subst" "0.012209" "03575" "CLN6_000010" "g.68504005G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs149692285}" "Germline" "" "rs149692285" "0" "" "" "g.68211667G>A" "" "likely benign" "" "0000683411" "3" "70" "15" "68510928" "68510928" "subst" "0" "03765" "CLN6_000033" "g.68510928C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683412" "3" "90" "15" "68521839" "68522080" "del" "0" "03765" "CLN6_000034" "g.(68510989_68521839)_(68522080_?)del" "" "" "" "-158_83del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683413" "3" "70" "15" "68506668" "68506668" "subst" "0" "03765" "CLN6_000035" "g.68506668T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683414" "3" "70" "15" "68506668" "68506668" "subst" "0" "03765" "CLN6_000035" "g.68506668T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683415" "3" "70" "15" "68506668" "68506668" "subst" "0" "03765" "CLN6_000035" "g.68506668T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683416" "3" "70" "15" "68506668" "68506668" "subst" "0" "03765" "CLN6_000035" "g.68506668T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683417" "0" "70" "15" "68504101" "68504102" "del" "8.12638E-6" "03765" "CLN6_000036" "g.68504101_68504102del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683418" "3" "70" "15" "68504101" "68504102" "del" "8.12638E-6" "03765" "CLN6_000036" "g.68504101_68504102del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683419" "3" "70" "15" "68504011" "68504011" "subst" "0" "03765" "CLN6_000037" "g.68504011A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683420" "3" "70" "15" "68502099" "68502099" "subst" "0" "03765" "CLN6_000038" "g.68502099T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683421" "3" "70" "15" "68504011" "68504011" "subst" "0" "03765" "CLN6_000039" "g.68504011A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000684792" "0" "30" "15" "68521918" "68521918" "subst" "0.000302313" "00004" "CLN6_000019" "g.68521918T>C" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.68229580T>C" "" "likely benign" "" "0000698168" "3" "90" "15" "68504056" "68504056" "subst" "0" "00006" "CLN6_000040" "g.68504056A>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.68211718A>T" "" "pathogenic (recessive)" "" "0000725270" "0" "50" "15" "68500582" "68500582" "subst" "6.09152E-5" "01943" "CALML4_000004" "g.68500582C>T" "" "" "" "CLN6(NM_017882.2):c.832G>A (p.A278T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725271" "0" "30" "15" "68500655" "68500655" "subst" "0" "01943" "CALML4_000005" "g.68500655G>C" "" "" "" "CLN6(NM_017882.2):c.759C>G (p.L253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725272" "0" "50" "15" "68501987" "68501987" "subst" "4.0654E-6" "02327" "CALML4_000006" "g.68501987C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725273" "0" "30" "15" "68503669" "68503669" "subst" "2.45084E-5" "02326" "CLN6_000041" "g.68503669C>T" "" "" "" "CLN6(NM_017882.3):c.487-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725274" "0" "30" "15" "68504022" "68504022" "subst" "4.06918E-5" "01943" "CLN6_000042" "g.68504022C>T" "" "" "" "CLN6(NM_017882.2):c.477G>A (p.P159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725275" "0" "90" "15" "68504105" "68504106" "del" "0" "01943" "CLN6_000043" "g.68504105_68504106del" "" "" "" "CLN6(NM_017882.2):c.395_396delCT (p.S132Cfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725276" "0" "30" "15" "68506731" "68506731" "subst" "5.68814E-5" "02325" "CLN6_000044" "g.68506731G>A" "" "" "" "CLN6(NM_017882.2):c.199-5C>T, CLN6(NM_017882.3):c.199-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725277" "0" "30" "15" "68521918" "68521918" "subst" "0.000302313" "01943" "CLN6_000019" "g.68521918T>C" "" "" "" "CLN6(NM_017882.2):c.5A>G (p.E2G), CLN6(NM_017882.3):c.5A>G (p.E2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735210" "3" "70" "15" "68503985" "68503985" "subst" "0" "03286" "CLN6_000045" "g.68503985A>G" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, PM3, PP4, BP4; The patient\'s electroclinical phenotype is consistent with previous reports for CLN6. The parents are related, consistent with the novel homozygous intronic variant. The phenotype is compatible with CLN6 mutation and RNA level studies with RT-PCR and sequencing have confirmed the variant results in aberrant splicing, thus we report this finding with high confidence." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000786814" "3" "70" "15" "68504023" "68504023" "subst" "0" "00006" "CLN6_000048" "g.68504023G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.68211685G>A" "" "likely pathogenic" "" "0000786815" "3" "70" "15" "68500639" "68500639" "subst" "0" "00006" "CLN6_000046" "g.68500639C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.68208301C>G" "" "likely pathogenic" "" "0000787148" "3" "50" "15" "68500735" "68500735" "subst" "1.22647E-5" "00006" "CLN6_000047" "g.68500735C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs746753722" "0" "" "" "g.68208397C>T" "{CV-RCV:000625854.1}" "VUS" "" "0000806885" "0" "50" "15" "68504027" "68504027" "subst" "0" "01943" "CLN6_000049" "g.68504027T>G" "" "" "" "CLN6(NM_017882.2):c.472A>C (p.K158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806886" "0" "30" "15" "68506731" "68506731" "subst" "5.68814E-5" "01943" "CLN6_000044" "g.68506731G>A" "" "" "" "CLN6(NM_017882.2):c.199-5C>T, CLN6(NM_017882.3):c.199-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811470" "3" "70" "15" "68506629" "68506629" "subst" "0" "00000" "CLN6_000053" "g.68506629T>C" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.296A>G, p.Lys99Arg" "Homozygous" "Germline" "?" "" "0" "" "" "g.68214291T>C" "" "likely pathogenic" "ACMG" "0000811471" "3" "70" "15" "68500638" "68500638" "subst" "0" "00000" "CLN6_000051" "g.68500638C>T" "" "{PMID:Dozieres-Puyravel 2020:31489614}" "" "c.776G>A, p.Gly259Asp" "Homozygous" "Germline" "?" "" "0" "" "" "g.68208300C>T" "" "likely pathogenic" "ACMG" "0000812852" "0" "70" "15" "68506681" "68506681" "subst" "0" "00000" "CLN6_000054" "g.68506681C>A" "" "{PMID:Surl 2020:32165824}" "" "3 compound heterozygous AR CLN6 c.244G>T p.(G82W) c.892G>A (Sun et al., 2018) p.(E298K)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68214343C>A" "" "likely pathogenic" "" "0000812855" "0" "70" "15" "68500522" "68500522" "subst" "0" "00000" "CLN6_000050" "g.68500522C>T" "" "{PMID:Surl 2020:32165824}" "" "3 compound heterozygous AR CLN6 c.244G>T p.(G82W) c.892G>A (Sun et al., 2018) p.(E298K)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.68208184C>T" "" "likely pathogenic" "" "0000812884" "3" "70" "15" "68510873" "68510873" "subst" "0" "00000" "CLN6_000055" "g.68510873C>T" "" "{PMID:Jilani 2019:31741823}" "" "c.198+1G>A" "homozygous" "Germline" "?" "" "0" "" "" "g.68218535C>T" "" "likely pathogenic" "" "0000812885" "3" "70" "15" "68504054" "68504054" "subst" "5.68995E-5" "00000" "CLN6_000052" "g.68504054G>A" "" "{PMID:Jilani 2019:31741823}" "" "c.445C>T, p.(Arg149Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68211716G>A" "" "likely pathogenic" "" "0000812886" "3" "70" "15" "68504054" "68504054" "subst" "5.68995E-5" "00000" "CLN6_000052" "g.68504054G>A" "" "{PMID:Jilani 2019:31741823}" "" "c.445C>T, p.(Arg149Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68211716G>A" "" "likely pathogenic" "" "0000812887" "3" "70" "15" "68504054" "68504054" "subst" "5.68995E-5" "00000" "CLN6_000052" "g.68504054G>A" "" "{PMID:Jilani 2019:31741823}" "" "c.445C>T, p.(Arg149Cys)" "homozygous" "Germline" "yes" "" "0" "" "" "g.68211716G>A" "" "likely pathogenic" "" "0000818614" "3" "70" "15" "68504103" "68504103" "dup" "0" "00000" "CLN6_000056" "g.68504103dup" "" "{PMID:Kozina 2020:32412666}" "" "c.396dupT, (p.Val133fs)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68211765dup" "" "likely pathogenic" "" "0000841174" "3" "90" "15" "68500623" "68500625" "del" "0" "00006" "CLN6_000005" "g.68500623_68500625del" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.68208285_68208287del" "" "pathogenic (recessive)" "" "0000854146" "0" "90" "15" "68504075" "68504075" "dup" "0" "02327" "CLN6_000057" "g.68504075dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854147" "0" "50" "15" "68506666" "68506666" "subst" "2.84241E-5" "02327" "CLN6_000013" "g.68506666T>C" "" "" "" "CLN6(NM_017882.2):c.259A>G (p.M87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863942" "0" "10" "15" "68504207" "68504207" "subst" "0.007652" "02327" "CLN6_000012" "g.68504207G>A" "" "" "" "CLN6(NM_017882.3):c.298-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863943" "0" "30" "15" "68510969" "68510969" "subst" "4.47031E-5" "01943" "CLN6_000058" "g.68510969C>T" "" "" "" "CLN6(NM_017882.2):c.103G>A (p.D35N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892222" "0" "50" "15" "68521910" "68521910" "subst" "2.51054E-5" "02326" "CLN6_000059" "g.68521910G>A" "" "" "" "CLN6(NM_017882.3):c.13C>T (p.R5W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012388" "3" "90" "15" "68500623" "68500625" "del" "0" "00006" "CLN6_000005" "g.68500623_68500625del" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.68208285_68208287del" "" "pathogenic (recessive)" "" "0001012448" "1" "50" "15" "68500659" "68500659" "subst" "0" "00006" "CLN6_000060" "g.68500659C>G" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.68208321C>G" "" "VUS" "" "0001040527" "0" "50" "15" "68500665" "68500665" "subst" "0.000117855" "01804" "CALML4_000007" "g.68500665C>T" "" "" "" "CLN6(NM_017882.3):c.749G>A (p.(Arg250His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040528" "0" "30" "15" "68521881" "68521881" "subst" "0.000536641" "02326" "CLN6_000061" "g.68521881G>T" "" "" "" "CLN6(NM_017882.3):c.42C>A (p.G14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CLN6 ## Count = 86 "{{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}}" "0000079505" "00005320" "00" "-3677160" "0" "872331" "0" "c.-3677160_*871395del" "r.?" "p.?" "" "0000091295" "00005320" "90" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Tyr84*)" "3" "0000091296" "00005320" "70" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Asp256Asn)" "7" "0000130180" "00005320" "70" "1" "0" "11" "0" "c.1_11del" "r.(?)" "p.(Met1?)" "" "0000130192" "00005320" "90" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ser265del)" "" "0000130271" "00005320" "70" "662" "0" "662" "0" "c.662A>C" "r.(?)" "p.(Tyr221Ser)" "" "0000244158" "00005320" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0000252248" "00005320" "30" "487" "-8" "487" "-8" "c.487-8T>C" "r.(=)" "p.(=)" "" "0000266845" "00005320" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000266846" "00005320" "50" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0000270291" "00005320" "30" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Glu72Gln)" "" "0000270292" "00005320" "50" "241" "0" "241" "0" "c.241G>T" "r.(?)" "p.(Val81Phe)" "" "0000270293" "00005320" "30" "298" "-6" "298" "-6" "c.298-6C>T" "r.(=)" "p.(=)" "" "0000270294" "00005320" "30" "339" "0" "339" "0" "c.339G>A" "r.(?)" "p.(Thr113=)" "" "0000270295" "00005320" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000270296" "00005320" "30" "486" "8" "486" "8" "c.486+8C>T" "r.(=)" "p.(=)" "" "0000270297" "00005320" "30" "923" "0" "923" "0" "c.923G>C" "r.(?)" "p.(Ser308Thr)" "" "0000273613" "00005320" "30" "213" "0" "213" "0" "c.213C>G" "r.(?)" "p.(Leu71=)" "" "0000273614" "00005320" "10" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Glu72Gln)" "" "0000273615" "00005320" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Met87Val)" "" "0000273616" "00005320" "10" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Ser257Gly)" "" "0000273617" "00005320" "30" "923" "0" "923" "0" "c.923G>C" "r.(?)" "p.(Ser308Thr)" "" "0000341691" "00005320" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000342546" "00005320" "70" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28Lys)" "" "0000348886" "00005320" "50" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ser265del)" "" "0000555254" "00005320" "50" "765" "0" "785" "0" "c.765_785del" "r.(?)" "p.(Asp256_Leu262del)" "" "0000555257" "00005320" "10" "199" "-104" "199" "-104" "c.199-104dup" "r.(=)" "p.(=)" "" "0000555258" "00005320" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Ala34Thr)" "" "0000555259" "00005320" "30" "64" "0" "64" "0" "c.64G>T" "r.(?)" "p.(Ala22Ser)" "" "0000555261" "00005320" "30" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ala18Val)" "" "0000555262" "00005320" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000615479" "00005320" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Arg149His)" "" "0000615480" "00005320" "30" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Glu72Gln)" "" "0000615481" "00005320" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Gly17Ser)" "" "0000623287" "00005320" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Thr4Met)" "" "0000624901" "00005320" "70" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ser265del)" "" "0000649143" "00005320" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000649144" "00005320" "50" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Trp)" "" "0000649145" "00005320" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" "0000653011" "00005320" "30" "486" "8" "486" "8" "c.486+8C>T" "r.(=)" "p.(=)" "" "0000683411" "00005320" "70" "144" "0" "144" "0" "c.144G>A" "r.(?)" "p.(Trp48*)" "" "0000683412" "00005320" "90" "0" "0" "0" "0" "c.-158_(83+1_84-1){0}" "r.0?" "p.0?" "1" "0000683413" "00005320" "70" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "3" "0000683414" "00005320" "70" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "3" "0000683415" "00005320" "70" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "3" "0000683416" "00005320" "70" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(His86Arg)" "3" "0000683417" "00005320" "70" "397" "0" "398" "0" "c.397_398del" "r.(?)" "p.(Val133Glnfs*17)" "4" "0000683418" "00005320" "70" "397" "0" "398" "0" "c.397_398del" "r.(?)" "p.(Val133Glnfs*17)" "4" "0000683419" "00005320" "70" "486" "2" "486" "2" "c.486+2T>A" "r.spl" "p.?" "4i" "0000683420" "00005320" "70" "543" "-2" "543" "-2" "c.543-2A>G" "r.spl" "p.?" "5i" "0000683421" "00005320" "70" "486" "2" "486" "2" "c.486+2T>C" "r.spl" "p.?" "4i" "0000684792" "00005320" "30" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0000698168" "00005320" "90" "443" "0" "443" "0" "c.443T>A" "r.(?)" "p.(Val148Asp)" "" "0000725270" "00005320" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000725271" "00005320" "30" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Leu253=)" "" "0000725272" "00005320" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Gly218Asp)" "" "0000725273" "00005320" "30" "487" "-13" "487" "-13" "c.487-13G>A" "r.(=)" "p.(=)" "" "0000725274" "00005320" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Pro159=)" "" "0000725275" "00005320" "90" "395" "0" "396" "0" "c.395_396del" "r.(?)" "p.(Ser132Cysfs*18)" "" "0000725276" "00005320" "30" "199" "-5" "199" "-5" "c.199-5C>T" "r.spl?" "p.?" "" "0000725277" "00005320" "30" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Glu2Gly)" "" "0000735210" "00005320" "70" "486" "28" "486" "28" "c.486+28T>C" "r.spl" "p.(?)" "" "0000786814" "00005320" "70" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Pro159Leu)" "4" "0000786815" "00005320" "70" "775" "0" "775" "0" "c.775G>C" "r.(?)" "p.(Gly259Arg)" "7" "0000787148" "00005320" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Glu227Lys)" "7" "0000806885" "00005320" "50" "472" "0" "472" "0" "c.472A>C" "r.(?)" "p.(Lys158Gln)" "" "0000806886" "00005320" "30" "199" "-5" "199" "-5" "c.199-5C>T" "r.spl?" "p.?" "" "0000811470" "00005320" "70" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(Lys99Arg)" "" "0000811471" "00005320" "70" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Gly259Asp)" "" "0000812852" "00005320" "70" "244" "0" "244" "0" "c.244G>T" "r.(?)" "p.(Gly82Trp)" "" "0000812855" "00005320" "70" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "" "0000812884" "00005320" "70" "198" "1" "198" "1" "c.198+1G>A" "r.spl" "p.(?)" "" "0000812885" "00005320" "70" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Cys)" "" "0000812886" "00005320" "70" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Cys)" "" "0000812887" "00005320" "70" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Cys)" "" "0000818614" "00005320" "70" "396" "0" "396" "0" "c.396dup" "r.(?)" "(p.Val133fs)" "" "0000841174" "00005320" "90" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ser265del)" "" "0000854146" "00005320" "90" "424" "0" "424" "0" "c.424dup" "r.(?)" "p.(Tyr142Leufs*9)" "" "0000854147" "00005320" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Met87Val)" "" "0000863942" "00005320" "10" "298" "-6" "298" "-6" "c.298-6C>T" "r.(=)" "p.(=)" "" "0000863943" "00005320" "30" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Asp35Asn)" "" "0000892222" "00005320" "50" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Arg5Trp)" "" "0001012388" "00005320" "90" "794" "0" "796" "0" "c.794_796del" "r.(?)" "p.(Ser265del)" "" "0001012448" "00005320" "50" "755" "0" "755" "0" "c.755G>C" "r.(?)" "p.(Arg252Pro)" "" "0001040527" "00005320" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "0001040528" "00005320" "30" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000050525" "0000079505" "0000060276" "0000091295" "0000060276" "0000091296" "0000081094" "0000130180" "0000081106" "0000130192" "0000081185" "0000130271" "0000151002" "0000244158" "0000271053" "0000624901" "0000292454" "0000649143" "0000292455" "0000649144" "0000292456" "0000649145" "0000296322" "0000653011" "0000308968" "0000683411" "0000308969" "0000683412" "0000308970" "0000683413" "0000308971" "0000683414" "0000308972" "0000683415" "0000308973" "0000683416" "0000308974" "0000683417" "0000308975" "0000683418" "0000308976" "0000683419" "0000308977" "0000683420" "0000308978" "0000683421" "0000309890" "0000684792" "0000316042" "0000698168" "0000336133" "0000735210" "0000375463" "0000786814" "0000375464" "0000786815" "0000375797" "0000787148" "0000384705" "0000811470" "0000384706" "0000811471" "0000385737" "0000812852" "0000385737" "0000812855" "0000385766" "0000812884" "0000385767" "0000812885" "0000385768" "0000812886" "0000385769" "0000812887" "0000389528" "0000818614" "0000405113" "0000841174" "0000457841" "0001012388" "0000457873" "0001012448"