### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DIS3L2) # 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}}" "DIS3L2" "DIS3 mitotic control homolog (S. cerevisiae)-like 2" "2" "q37.1" "unknown" "NG_032572.1" "UD_136086587969" "" "https://www.LOVD.nl/DIS3L2" "" "1" "28648" "129563" "614184" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/DIS3L2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-03-20 00:00:00" "00006" "2017-06-29 16:27:51" "00000" "2022-05-09 15:51:19" ## 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}}" "00006443" "DIS3L2" "transcript variant 1" "003" "NM_152383.4" "" "NP_689596.4" "" "" "" "-276" "3226" "2658" "232826293" "233201908" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00573" "PRLMNS" "Perlman syndrome (PRLMNS)" "AR" "267000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DIS3L2" "00139" "DIS3L2" "00573" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00117902" "" "" "" "1" "" "00002" "{PMID:Astuti 2012:22306653}" "cell line GM08024" "M" "" "" "" "0" "" "" "white" "" "00117903" "" "" "" "1" "" "00002" "{PMID:Neri 1984:6093533}" "cell line GM08246" "F" "" "" "" "0" "" "" "white" "" "00117904" "" "" "" "1" "" "00002" "{PMID:Astuti 2012:22306653}" "died" "M" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00117905" "" "" "" "1" "" "00002" "{PMID:Henneveld 1999:10508986}" "died" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00117906" "" "" "" "1" "" "00002" "{PMID:Henneveld 1999:10508986}" "died" "F" "" "Netherlands" "" "0" "" "" "Dutch" "" "00266479" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Argentina" "" "00292631" "" "" "" "126" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00117902" "00573" "00117903" "00573" "00117904" "00573" "00117905" "00573" "00117906" "00573" "00266479" "05093" "00292631" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00573, 05093 ## Count = 6 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000093283" "00573" "00117902" "00002" "Familial, autosomal recessive" "7m" "Wilm tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000093284" "00573" "00117903" "00002" "Familial, autosomal recessive" "14y" "Wilm tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000093285" "00573" "00117904" "00002" "Familial, autosomal recessive" "3y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093286" "00573" "00117905" "00002" "Familial, autosomal recessive" "1d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093287" "00573" "00117906" "00002" "Familial, autosomal recessive" "9m" "Wilm tumor" "" "" "" "" "" "" "" "" "" "" "" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118365" "00117902" "1" "00002" "00006" "2012-03-20 10:08:25" "" "" "SEQ" "DNA" "" "" "0000118366" "00117903" "1" "00002" "00006" "2012-03-20 10:08:25" "" "" "SEQ" "DNA" "" "" "0000118367" "00117904" "1" "00002" "00006" "2012-03-20 10:08:25" "" "" "SEQ" "DNA" "" "" "0000118368" "00117905" "1" "00002" "00006" "2012-03-20 10:08:25" "" "" "SEQ" "DNA" "" "" "0000118369" "00117906" "1" "00002" "00006" "2012-03-20 10:08:25" "" "" "SEQ" "DNA" "" "" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000293799" "00292631" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000118365" "DIS3L2" "0000118366" "DIS3L2" "0000118367" "DIS3L2" "0000118368" "DIS3L2" "0000118369" "DIS3L2" ## 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 = 66 "{{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}}" "0000194467" "2" "70" "2" "233028169" "233028342" "del" "0" "00002" "DIS3L2_000004" "g.233028169_233028342del" "" "{PMID:Astuti 2012:22306653}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.232163459_232163632del" "" "likely pathogenic" "" "0000194468" "2" "70" "2" "233127957" "233127957" "subst" "0" "00002" "DIS3L2_000005" "g.233127957G>A" "" "{PMID:Astuti 2012:22306653}" "" "" "" "Germline" "" "" "0" "" "" "g.232263247G>A" "" "likely pathogenic" "" "0000194469" "2" "70" "2" "233199450" "233199450" "subst" "0.00000450126" "00002" "DIS3L2_000003" "g.233199450G>A" "" "{PMID:Astuti 2012:22306653}" "" "" "" "Germline" "" "" "0" "" "" "g.232334740G>A" "" "likely pathogenic" "" "0000194470" "1" "70" "2" "232910644" "233036291" "del" "0" "00002" "DIS3L2_000001" "g.232910644_233036291del" "" "{PMID:Astuti 2012:22306653}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.232045934_232171581del" "" "likely pathogenic" "" "0000194471" "2" "70" "2" "232910644" "233036291" "del" "0" "00002" "DIS3L2_000001" "g.232910644_233036291del" "" "{PMID:Astuti 2012:22306653}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.232045934_232171581del" "" "likely pathogenic" "" "0000194472" "3" "70" "2" "233028169" "233028342" "del" "0" "00002" "DIS3L2_000002" "g.233028169_233028342del" "" "{PMID:Astuti 2012:22306653}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.232163459_232163632del" "" "likely pathogenic" "" "0000194473" "3" "70" "2" "233028169" "233028342" "del" "0" "00002" "DIS3L2_000002" "g.233028169_233028342del" "" "{PMID:Astuti 2012:22306653}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.232163459_232163632del" "" "likely pathogenic" "" "0000250411" "0" "30" "2" "233194503" "233194503" "subst" "0" "02329" "DIS3L2_000022" "g.233194503A>C" "" "" "" "DIS3L2(NM_152383.4):c.1740-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232329793A>C" "" "likely benign" "" "0000250412" "0" "30" "2" "233194512" "233194512" "subst" "0" "02329" "DIS3L2_000023" "g.233194512A>C" "" "" "" "DIS3L2(NM_152383.4):c.1740-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232329802A>C" "" "likely benign" "" "0000268678" "0" "10" "2" "233075081" "233075081" "subst" "0.0215355" "02329" "DIS3L2_000016" "g.233075081C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1170C>T (p.(Leu390=)), DIS3L2(NM_152383.4):c.1170C>T (p.L390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232210371C>T" "" "benign" "" "0000268679" "0" "10" "2" "233127939" "233127939" "subst" "0.013843" "02329" "DIS3L2_000017" "g.233127939G>A" "" "" "" "DIS3L2(NM_152383.4):c.1448G>A (p.R483Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232263229G>A" "" "benign" "" "0000268680" "0" "30" "2" "233127976" "233127976" "subst" "0" "02329" "DIS3L2_000018" "g.233127976G>A" "" "" "" "DIS3L2(NM_152383.4):c.1485G>A (p.E495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232263266G>A" "" "likely benign" "" "0000268681" "0" "10" "2" "233127979" "233127979" "subst" "0.0122553" "02329" "DIS3L2_000019" "g.233127979T>C" "" "" "" "DIS3L2(NM_001257281.1):c.1488T>C (p.(His496=)), DIS3L2(NM_152383.4):c.1488T>C (p.H496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232263269T>C" "" "benign" "" "0000268682" "0" "30" "2" "233164774" "233164774" "subst" "0.0000162848" "02329" "DIS3L2_000020" "g.233164774C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1581+36702C>T (p.(=)), DIS3L2(NM_152383.4):c.1684C>T (p.H562Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232300064C>T" "" "likely benign" "" "0000268683" "0" "30" "2" "233194516" "233194516" "subst" "0.00180059" "02329" "DIS3L2_000024" "g.233194516T>C" "" "" "" "DIS3L2(NM_001257281.1):c.1582-13539T>C (p.(=)), DIS3L2(NM_152383.4):c.1740-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232329806T>C" "" "likely benign" "" "0000268684" "0" "10" "2" "233199107" "233199107" "subst" "0.030908" "02329" "DIS3L2_000028" "g.233199107C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1582-8948C>T (p.(=)), DIS3L2(NM_152383.4):c.2187C>T (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232334397C>T" "" "benign" "" "0000268685" "0" "30" "2" "233199418" "233199418" "subst" "0" "02329" "DIS3L2_000031" "g.233199418C>T" "" "" "" "DIS3L2(NM_152383.4):c.2367C>T (p.Y789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232334708C>T" "" "likely benign" "" "0000268686" "0" "30" "2" "232879671" "232879671" "subst" "0.0000203558" "02329" "DIS3L2_000006" "g.232879671C>A" "" "" "" "DIS3L2(NM_152383.4):c.34C>A (p.P12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232014961C>A" "" "likely benign" "" "0000268687" "0" "30" "2" "232952191" "232952191" "subst" "0" "02329" "DIS3L2_000009" "g.232952191C>T" "" "" "" "DIS3L2(NM_152383.4):c.367-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087481C>T" "" "likely benign" "" "0000268688" "0" "10" "2" "232952256" "232952256" "subst" "0.0114475" "02329" "DIS3L2_000010" "g.232952256C>T" "" "" "" "DIS3L2(NM_001257281.1):c.426C>T (p.(Pro142=)), DIS3L2(NM_152383.4):c.426C>T (p.P142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087546C>T" "" "benign" "" "0000268689" "0" "30" "2" "232995439" "232995439" "subst" "0.0042358" "02329" "DIS3L2_000013" "g.232995439T>G" "" "" "" "DIS3L2(NM_001257282.1):c.712T>G (p.Y238D), DIS3L2(NM_152383.4):c.702+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232130729T>G" "" "likely benign" "" "0000275058" "0" "30" "2" "233164817" "233164817" "subst" "0.000142469" "01943" "DIS3L2_000021" "g.233164817G>A" "" "" "" "DIS3L2(NM_001257281.1):c.1581+36745G>A (p.(=)), DIS3L2(NM_152383.4):c.1727G>A (p.R576H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232300107G>A" "" "likely benign" "" "0000275060" "0" "30" "2" "233194691" "233194691" "subst" "0.0000330142" "01943" "DIS3L2_000026" "g.233194691C>T" "" "" "" "DIS3L2(NM_152383.4):c.1908C>T (p.S636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232329981C>T" "" "likely benign" "" "0000275061" "0" "30" "2" "232888978" "232888978" "del" "0.0000133284" "01943" "DIS3L2_000007" "g.232888978del" "" "" "" "DIS3L2(NM_152383.4):c.211-9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232024268del" "" "likely benign" "" "0000275062" "0" "30" "2" "233200512" "233200512" "subst" "0.0000804915" "01943" "DIS3L2_000032" "g.233200512G>A" "" "" "" "DIS3L2(NM_152383.4):c.2424G>A (p.Q808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232335802G>A" "" "likely benign" "" "0000275063" "0" "30" "2" "232894725" "232894725" "subst" "0.000158249" "01943" "DIS3L2_000008" "g.232894725G>T" "" "" "" "DIS3L2(NM_152383.4):c.301G>T (p.A101S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232030015G>T" "" "likely benign" "" "0000275064" "0" "30" "2" "232995468" "232995468" "subst" "0.00248946" "01943" "DIS3L2_000014" "g.232995468T>G" "" "" "" "DIS3L2(NM_001257282.1):c.741T>G (p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232130758T>G" "" "likely benign" "" "0000275065" "0" "50" "2" "233001353" "233001353" "subst" "0.0000284569" "01943" "DIS3L2_000015" "g.233001353C>T" "" "" "" "DIS3L2(NM_152383.4):c.874C>T (p.R292W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232136643C>T" "" "VUS" "" "0000328154" "0" "50" "2" "233164817" "233164817" "subst" "0.000142469" "01804" "DIS3L2_000021" "g.233164817G>A" "" "" "" "DIS3L2(NM_001257281.1):c.1581+36745G>A (p.(=)), DIS3L2(NM_152383.4):c.1727G>A (p.R576H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232300107G>A" "" "VUS" "" "0000328158" "0" "50" "2" "233199407" "233199407" "subst" "0.0000208144" "01804" "DIS3L2_000030" "g.233199407G>T" "" "" "" "DIS3L2(NM_152383.4):c.2356G>T (p.(Val786Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232334697G>T" "" "VUS" "" "0000339705" "0" "30" "2" "232952283" "232952283" "subst" "0.000101557" "02327" "DIS3L2_000035" "g.232952283G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087573G>A" "" "likely benign" "" "0000339706" "0" "30" "2" "233199179" "233199179" "subst" "0" "02327" "DIS3L2_000038" "g.233199179T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232334469T>C" "" "likely benign" "" "0000343331" "0" "50" "2" "233199163" "233199163" "subst" "0.0000244069" "02327" "DIS3L2_000037" "g.233199163G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232334453G>A" "" "VUS" "" "0000346909" "0" "30" "2" "232952278" "232952278" "subst" "0" "02327" "DIS3L2_000034" "g.232952278C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087568C>T" "" "likely benign" "" "0000348818" "0" "30" "2" "232952423" "232952423" "subst" "0" "02327" "DIS3L2_000036" "g.232952423C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087713C>T" "" "likely benign" "" "0000351056" "0" "30" "2" "232952184" "232952184" "subst" "0" "02327" "DIS3L2_000033" "g.232952184C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.232087474C>T" "" "likely benign" "" "0000515044" "0" "30" "2" "232879670" "232879670" "subst" "0.0000162719" "02329" "DIS3L2_000039" "g.232879670G>A" "" "" "" "DIS3L2(NM_152383.4):c.33G>A (p.R11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232014960G>A" "" "likely benign" "" "0000515045" "0" "30" "2" "232879671" "232879671" "subst" "0.045137" "01804" "DIS3L2_000040" "g.232879671C>T" "" "" "" "DIS3L2(NM_001257281.1):c.34C>T (p.(Pro12Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232014961C>T" "" "likely benign" "" "0000515046" "0" "30" "2" "232889039" "232889039" "subst" "0.000813234" "01804" "DIS3L2_000041" "g.232889039C>T" "" "" "" "DIS3L2(NM_001257281.1):c.263C>T (p.(Pro88Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232024329C>T" "" "likely benign" "" "0000515047" "0" "10" "2" "232952256" "232952256" "subst" "0.0114475" "01804" "DIS3L2_000010" "g.232952256C>T" "" "" "" "DIS3L2(NM_001257281.1):c.426C>T (p.(Pro142=)), DIS3L2(NM_152383.4):c.426C>T (p.P142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232087546C>T" "" "benign" "" "0000515048" "0" "30" "2" "232995412" "232995412" "subst" "0.0000895292" "01943" "DIS3L2_000042" "g.232995412C>G" "" "" "" "DIS3L2(NM_152383.4):c.685C>G (p.L229V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232130702C>G" "" "likely benign" "" "0000515049" "0" "30" "2" "232995439" "232995439" "subst" "0.0042358" "01943" "DIS3L2_000013" "g.232995439T>G" "" "" "" "DIS3L2(NM_001257282.1):c.712T>G (p.Y238D), DIS3L2(NM_152383.4):c.702+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232130729T>G" "" "likely benign" "" "0000515053" "0" "50" "2" "233164774" "233164774" "subst" "0.0000162848" "01804" "DIS3L2_000020" "g.233164774C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1581+36702C>T (p.(=)), DIS3L2(NM_152383.4):c.1684C>T (p.H562Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232300064C>T" "" "VUS" "" "0000515055" "0" "30" "2" "233194508" "233194508" "subst" "0" "02329" "DIS3L2_000046" "g.233194508A>C" "" "" "" "DIS3L2(NM_152383.4):c.1740-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232329798A>C" "" "likely benign" "" "0000515056" "0" "30" "2" "233194516" "233194516" "subst" "0.00180059" "01804" "DIS3L2_000024" "g.233194516T>C" "" "" "" "DIS3L2(NM_001257281.1):c.1582-13539T>C (p.(=)), DIS3L2(NM_152383.4):c.1740-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232329806T>C" "" "likely benign" "" "0000515057" "0" "50" "2" "233194539" "233194539" "subst" "0.00000490023" "01804" "DIS3L2_000047" "g.233194539A>G" "" "" "" "DIS3L2(NM_152383.4):c.1756A>G (p.(Met586Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232329829A>G" "" "VUS" "" "0000515058" "0" "90" "2" "233194618" "233194618" "dup" "0" "01943" "DIS3L2_000048" "g.233194618dup" "" "" "" "DIS3L2(NM_152383.4):c.1835dupC (p.P613Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232329908dup" "" "pathogenic" "" "0000515060" "0" "30" "2" "233199380" "233199380" "subst" "0" "01804" "DIS3L2_000050" "g.233199380A>G" "" "" "" "DIS3L2(NM_152383.4):c.2329A>G (p.(Ile777Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232334670A>G" "" "likely benign" "" "0000515061" "0" "50" "2" "233199421" "233199421" "subst" "0.00282663" "01943" "DIS3L2_000051" "g.233199421C>T" "" "" "" "DIS3L2(NM_152383.4):c.2370C>T (p.G790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232334711C>T" "" "VUS" "" "0000515062" "0" "30" "2" "233199421" "233199421" "subst" "0.00282663" "02329" "DIS3L2_000051" "g.233199421C>T" "" "" "" "DIS3L2(NM_152383.4):c.2370C>T (p.G790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232334711C>T" "" "likely benign" "" "0000515063" "0" "50" "2" "233208124" "233208125" "ins" "0" "01943" "DIS3L2_000052" "g.233208124_233208125insGGG" "" "" "" "DIS3L2(NM_001257281.1):c.1651_1652insGGG (p.E550_A551insG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232343414_232343415insGGG" "" "VUS" "" "0000515064" "0" "50" "2" "233208195" "233208196" "del" "0" "01804" "DIS3L2_000053" "g.233208195_233208196del" "" "" "" "DIS3L2(NM_001257281.1):c.1721_1722del (p.(Phe576ProfsTer131))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232343485_232343486del" "" "VUS" "" "0000599059" "0" "50" "2" "233198654" "233198654" "subst" "0" "02337" "DIS3L2_000054" "g.233198654C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.232333944C>T" "" "VUS" "" "0000607814" "0" "30" "2" "232880279" "232880279" "subst" "0.000252277" "01943" "DIS3L2_000055" "g.232880279G>A" "" "" "" "DIS3L2(NM_152383.4):c.108G>A (p.K36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.232015569G>A" "" "likely benign" "" "0000650488" "1" "30" "2" "233127939" "233127939" "subst" "0.013843" "03575" "DIS3L2_000017" "g.233127939G>A" "126/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "126 heterozygous, no homozygous; {DB:CLININrs148474013}" "Germline" "" "rs148474013" "0" "" "" "g.232263229G>A" "" "likely benign" "" "0000688692" "0" "30" "2" "233001412" "233001412" "subst" "0.00000406924" "01804" "DIS3L2_000056" "g.233001412C>G" "" "" "" "DIS3L2(NM_001257281.1):c.933C>G (p.(Asp311Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688693" "0" "50" "2" "233199191" "233199193" "del" "0" "01943" "DIS3L2_000057" "g.233199191_233199193del" "" "" "" "DIS3L2(NM_152383.4):c.2271_2273delCTT (p.F758del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718613" "0" "30" "2" "233001274" "233001274" "subst" "0.00047156" "01804" "DIS3L2_000058" "g.233001274C>T" "" "" "" "DIS3L2(NM_001257281.1):c.795C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718614" "0" "30" "2" "233195446" "233195446" "subst" "0.0000244481" "01943" "DIS3L2_000059" "g.233195446G>A" "" "" "" "DIS3L2(NM_152383.4):c.1970G>A (p.R657H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800477" "0" "50" "2" "233001282" "233001282" "subst" "0" "01943" "DIS3L2_000060" "g.233001282T>C" "" "" "" "DIS3L2(NM_152383.4):c.803T>C (p.F268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849791" "0" "70" "2" "232952371" "232952371" "dup" "0" "01943" "DIS3L2_000061" "g.232952371dup" "" "" "" "DIS3L2(NM_152383.4):c.541dupA (p.I181Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858400" "0" "50" "2" "233001206" "233001206" "subst" "0" "01804" "DIS3L2_000062" "g.233001206C>A" "" "" "" "DIS3L2(NM_001257281.1):c.727C>A (p.(His243Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858401" "0" "10" "2" "233075081" "233075081" "subst" "0.0215355" "01804" "DIS3L2_000016" "g.233075081C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1170C>T (p.(Leu390=)), DIS3L2(NM_152383.4):c.1170C>T (p.L390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858402" "0" "30" "2" "233127979" "233127979" "subst" "0.0122553" "01804" "DIS3L2_000019" "g.233127979T>C" "" "" "" "DIS3L2(NM_001257281.1):c.1488T>C (p.(His496=)), DIS3L2(NM_152383.4):c.1488T>C (p.H496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858403" "0" "10" "2" "233199107" "233199107" "subst" "0.030908" "01804" "DIS3L2_000028" "g.233199107C>T" "" "" "" "DIS3L2(NM_001257281.1):c.1582-8948C>T (p.(=)), DIS3L2(NM_152383.4):c.2187C>T (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858404" "0" "30" "2" "233199346" "233199346" "subst" "0" "01804" "DIS3L2_000063" "g.233199346T>C" "" "" "" "DIS3L2(NM_001257281.1):c.1582-8709T>C (p.?)" "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 DIS3L2 ## Count = 66 "{{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}}" "0000194467" "00006443" "70" "951" "-1" "1124" "1" "c.951-?_1124+?del" "r.(?)" "p.(Gln318_Arg375del)" "?" "0000194468" "00006443" "70" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Cys489Tyr)" "?" "0000194469" "00006443" "70" "2394" "5" "2394" "5" "c.2394+5G>A" "r.(?)" "p.(Glu764_Asn798del)" "?" "0000194470" "00006443" "70" "367" "-41553" "602" "40962" "c.367-41553_602+40962del" "r.(?)" "p.(Val123Glufs*136)" "6" "0000194471" "00006443" "70" "367" "-41553" "602" "40962" "c.367-41553_602+40962del" "r.(?)" "p.(Val123Glufs*136)" "6" "0000194472" "00006443" "70" "951" "-1" "1124" "1" "c.951-?_1124+?del" "r.(?)" "p.(Gln318_Arg375del)" "9" "0000194473" "00006443" "70" "951" "-1" "1124" "1" "c.951-?_1124+?del" "r.(?)" "p.(Gln318_Arg375del)" "9" "0000250411" "00006443" "30" "1740" "-20" "1740" "-20" "c.1740-20A>C" "r.(=)" "p.(=)" "" "0000250412" "00006443" "30" "1740" "-11" "1740" "-11" "c.1740-11A>C" "r.(=)" "p.(=)" "" "0000268678" "00006443" "10" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Leu390=)" "" "0000268679" "00006443" "10" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483Gln)" "" "0000268680" "00006443" "30" "1485" "0" "1485" "0" "c.1485G>A" "r.(?)" "p.(Glu495=)" "" "0000268681" "00006443" "10" "1488" "0" "1488" "0" "c.1488T>C" "r.(?)" "p.(His496=)" "" "0000268682" "00006443" "30" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(His562Tyr)" "" "0000268683" "00006443" "30" "1740" "-7" "1740" "-7" "c.1740-7T>C" "r.(=)" "p.(=)" "" "0000268684" "00006443" "10" "2187" "0" "2187" "0" "c.2187C>T" "r.(?)" "p.(Pro729=)" "" "0000268685" "00006443" "30" "2367" "0" "2367" "0" "c.2367C>T" "r.(?)" "p.(Tyr789=)" "" "0000268686" "00006443" "30" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Pro12Thr)" "" "0000268687" "00006443" "30" "367" "-6" "367" "-6" "c.367-6C>T" "r.(=)" "p.(=)" "" "0000268688" "00006443" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Pro142=)" "" "0000268689" "00006443" "30" "702" "10" "702" "10" "c.702+10T>G" "r.(=)" "p.(=)" "" "0000275058" "00006443" "30" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000275060" "00006443" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Ser636=)" "" "0000275061" "00006443" "30" "211" "-9" "211" "-9" "c.211-9del" "r.(=)" "p.(=)" "" "0000275062" "00006443" "30" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(Gln808=)" "" "0000275063" "00006443" "30" "301" "0" "301" "0" "c.301G>T" "r.(?)" "p.(Ala101Ser)" "" "0000275064" "00006443" "30" "702" "39" "702" "39" "c.702+39T>G" "r.(=)" "p.(=)" "" "0000275065" "00006443" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Trp)" "" "0000328154" "00006443" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000328158" "00006443" "50" "2356" "0" "2356" "0" "c.2356G>T" "r.(?)" "p.(Val786Leu)" "" "0000339705" "00006443" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Pro151=)" "" "0000339706" "00006443" "30" "2259" "0" "2259" "0" "c.2259T>C" "r.(?)" "p.(Ser753=)" "" "0000343331" "00006443" "50" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Arg748His)" "" "0000346909" "00006443" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Leu150Phe)" "" "0000348818" "00006443" "30" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ser198Phe)" "" "0000351056" "00006443" "30" "367" "-13" "367" "-13" "c.367-13C>T" "r.(=)" "p.(=)" "" "0000515044" "00006443" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Arg11=)" "" "0000515045" "00006443" "30" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Pro12Ser)" "" "0000515046" "00006443" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Pro88Leu)" "" "0000515047" "00006443" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Pro142=)" "" "0000515048" "00006443" "30" "685" "0" "685" "0" "c.685C>G" "r.(?)" "p.(Leu229Val)" "" "0000515049" "00006443" "30" "702" "10" "702" "10" "c.702+10T>G" "r.(=)" "p.(=)" "" "0000515053" "00006443" "50" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(His562Tyr)" "" "0000515055" "00006443" "30" "1740" "-15" "1740" "-15" "c.1740-15A>C" "r.(=)" "p.(=)" "" "0000515056" "00006443" "30" "1740" "-7" "1740" "-7" "c.1740-7T>C" "r.(=)" "p.(=)" "" "0000515057" "00006443" "50" "1756" "0" "1756" "0" "c.1756A>G" "r.(?)" "p.(Met586Val)" "" "0000515058" "00006443" "90" "1835" "0" "1835" "0" "c.1835dup" "r.(?)" "p.(Pro613AlafsTer8)" "" "0000515060" "00006443" "30" "2329" "0" "2329" "0" "c.2329A>G" "r.(?)" "p.(Ile777Val)" "" "0000515061" "00006443" "50" "2370" "0" "2370" "0" "c.2370C>T" "r.(?)" "p.(Gly790=)" "" "0000515062" "00006443" "30" "2370" "0" "2370" "0" "c.2370C>T" "r.(?)" "p.(Gly790=)" "" "0000515063" "00006443" "50" "9442" "0" "9443" "0" "c.*6784_*6785insGGG" "r.(=)" "p.(=)" "" "0000515064" "00006443" "50" "9513" "0" "9514" "0" "c.*6855_*6856del" "r.(=)" "p.(=)" "" "0000599059" "00006443" "50" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Arg705=)" "17" "0000607814" "00006443" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Lys36=)" "" "0000650488" "00006443" "30" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483Gln)" "" "0000688692" "00006443" "30" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Asp311Glu)" "" "0000688693" "00006443" "50" "2271" "0" "2273" "0" "c.2271_2273del" "r.(?)" "p.(Phe758del)" "" "0000718613" "00006443" "30" "795" "0" "795" "0" "c.795C>T" "r.(?)" "p.(Tyr265=)" "" "0000718614" "00006443" "30" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Arg657His)" "" "0000800477" "00006443" "50" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Phe268Ser)" "" "0000849791" "00006443" "70" "541" "0" "541" "0" "c.541dup" "r.(?)" "p.(Ile181Asnfs*8)" "" "0000858400" "00006443" "50" "727" "0" "727" "0" "c.727C>A" "r.(?)" "p.(His243Asn)" "" "0000858401" "00006443" "10" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Leu390=)" "" "0000858402" "00006443" "30" "1488" "0" "1488" "0" "c.1488T>C" "r.(?)" "p.(His496=)" "" "0000858403" "00006443" "10" "2187" "0" "2187" "0" "c.2187C>T" "r.(?)" "p.(Pro729=)" "" "0000858404" "00006443" "30" "2295" "0" "2295" "0" "c.2295T>C" "r.(?)" "p.(Ser765=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000118365" "0000194467" "0000118365" "0000194468" "0000118366" "0000194469" "0000118367" "0000194470" "0000118367" "0000194471" "0000118368" "0000194472" "0000118369" "0000194473" "0000267605" "0000599059" "0000293799" "0000650488"