### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XRCC4) # 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}}" "XRCC4" "X-ray repair complementing defective repair in Chinese hamster cells 4" "5" "q14.2" "unknown" "NC_000005.9" "UD_133033940448" "" "http://www.LOVD.nl/XRCC4" "" "1" "12831" "7518" "194363" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/XRCC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-26 04:40:14" "00000" "2025-11-01 13:22:20" ## 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}}" "00024078" "XRCC4" "transcript variant 2" "002" "NM_022406.2" "" "NP_071801.1" "" "" "" "-128" "1529" "1011" "82373317" "82649579" "00006" "2015-11-26 01:17:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00277" "DWFP" "dwarfism, primordial (DWFP)" "" "" "" "" "" "00006" "2013-11-22 16:21:08" "00006" "2015-12-07 07:11:25" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05068" "SSMED" "stature, short, microcephaly, and endocrine dysfunction (SSMED)" "AR" "616541" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "XRCC4" "05068" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00004054" "" "" "" "4" "" "00549" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}" "4-generation family, unaffected heterozygous carrier parents, deceased sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00054820" "" "" "" "1" "" "01474" "" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00105004" "" "" "" "1" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "25728776-PatP1" "00105005" "" "" "" "1" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "" "M" "" "Morocco" "" "0" "" "" "" "25728776-PatP2" "00105006" "" "" "" "2" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "25728776-Fam3Pat3-1/2" "00105007" "" "" "" "1" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "" "M" "" "France" "" "0" "" "" "" "25728776-Fam4Pat4" "00105008" "" "" "" "1" "" "00006" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "25728776-Fam5Pat5" "00105010" "" "" "" "3" "" "00006" "{PMID:Rosin 2015:25839420}, {DOI:Rosin 2015:doi.org/10.1093/hmg/ddv115}" "4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "25839420-Fam-01PatIV1/2/3" "00105011" "" "" "" "1" "" "00006" "{PMID:Rosin 2015:25839420}, {DOI:Rosin 2015:doi.org/10.1093/hmg/ddv115}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Switzerland" "" "0" "" "" "" "25839420-Fam-02PatII2" "00105012" "" "" "" "2" "" "00006" "{PMID:Bee 2015:25872942}, {DOI:Bee 2015:10.15252/emmm.201404803}" "2-generation family, affected twin brothers, unaffected heterozygous carrier parents/sister" "M" "yes" "Italy" "" "0" "" "" "" "25872942-Fam" "00105050" "" "" "" "2" "" "00006" "{PMID:de Bruin 2015:25742519}, {DOI:de Bruin 2015:10.1210/jc.2015-1098}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Chile" "" "0" "" "" "" "25742519" "00105051" "" "" "" "1" "" "00006" "{PMID:Guo 2015:26255102}, {DOI:Guo 2015:10.1016/j.jaci.2015.06.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "26255102-PatCSL16NG" "00248250" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00430363" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "" "" "" "" "MINAS_35" "00433001" "" "" "" "1" "" "01082" "" "" "F" "" "Brazil" "" "" "" "" "" "MINAS_34" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00004054" "00277" "00054820" "00318" "00105004" "00277" "00105005" "00277" "00105006" "00277" "00105007" "00277" "00105008" "00277" "00105010" "00198" "00105011" "00198" "00105012" "00198" "00105050" "00198" "00105051" "00198" "00248250" "00318" "00430363" "04296" "00433001" "04296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00277, 00318, 04296, 05068 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000041474" "00318" "00054820" "01474" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041489" "00277" "00004054" "00549" "Familial, autosomal recessive" "" "normal motor development, speech delay, triangular bird-like face, and short philtrum" "" "weight 1.35 (-3.9), length ?, OFC ?" "4y weight 5.4 (-6.3), length 71 (-7.1), OFC 36.8 (-8.3)" "" "" "" "" "" "" "" "" "" "" "0000082895" "00277" "00105004" "00006" "Familial, autosomal recessive" "03y01m" "microcephalic primordial dwarfism (MPD), see paper; ..., extreme microcephaly (-8.3 SD), short stature (-4.7 SD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082896" "00277" "00105005" "00006" "Familial, autosomal recessive" "02y09m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082897" "00277" "00105006" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082898" "00277" "00105007" "00006" "Familial, autosomal recessive" "09y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082899" "00277" "00105008" "00006" "Familial, autosomal recessive" "00y05m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082901" "00198" "00105010" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, mild intellectual disability, pronounced primary microcephaly, short stature, increased genomic instability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082902" "00198" "00105011" "00006" "Familial, autosomal recessive" "" "see paper; ..., mildly delayed speech development, short stature/microcephaly present from birth" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082903" "00198" "00105012" "00006" "Familial, autosomal recessive" "" "adult-onset progressive encephalocardiomyopathy; see paper; ...; birth-bilateral cryptorchidism, malformations; early adulthood-slowly progressive neurological syndrome, with cerebellar/pyramidal signs, cognitive impairment, depression, dilating cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082941" "00198" "00105050" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe postnatal growth failure (adult heights: P1, -6.8 SD score; P2, -4 SD score), microcephaly, primary gonadal failure, early-onset metabolic syndrome in late adolescence; P2 28y malignant gastrointestinal stromal tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082942" "00198" "00105051" "00006" "Familial, autosomal recessive" "" "see paper; ..., significant intrauterine growth failure, short stature, microcephaly at birth, hypothyroidism, diabetes mellitus, progressive ataxia, low-grade thalamic glioma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187259" "00318" "00248250" "01474" "Unknown" "" "41y ductal breast cancer, subtype HER-2" "41y" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000323678" "04296" "00430363" "01082" "Familial, autosomal recessive" "" "Kidney cancer (HP:0009726); colon adenocarcinoma (HP:0003003); thyroid cancer (HP:0002890)" "" "" "" "44y" "" "" "" "" "" "" "" "" "" "0000323698" "04296" "00433001" "01082" "Familial, autosomal dominant" "" "Breast cancer (HP:0003002)" "40y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000003976" "00004054" "1" "00549" "00549" "2013-11-21 21:34:10" "00006" "2015-11-26 12:10:07" "SEQ-NG" "DNA" "" "" "0000054769" "00054820" "1" "01474" "01474" "2015-11-25 12:56:32" "00006" "2019-07-19 16:12:09" "SEQ-NG-S" "DNA" "blood" "" "0000105477" "00105004" "1" "00006" "00006" "2017-06-14 22:19:29" "00006" "2017-06-14 22:23:21" "SEQ;SEQ-NG" "DNA" "" "WES" "0000105478" "00105005" "1" "00006" "00006" "2017-06-14 22:25:50" "" "" "SEQ" "DNA" "" "" "0000105479" "00105006" "1" "00006" "00006" "2017-06-14 22:31:56" "" "" "SEQ" "DNA" "" "" "0000105480" "00105007" "1" "00006" "00006" "2017-06-14 22:36:18" "" "" "SEQ" "DNA" "" "" "0000105481" "00105008" "1" "00006" "00006" "2017-06-14 22:39:18" "00006" "2017-06-14 22:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000105483" "00105010" "1" "00006" "00006" "2017-06-14 23:02:22" "00006" "2017-06-14 23:08:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000105484" "00105011" "1" "00006" "00006" "2017-06-14 23:17:21" "" "" "SEQ" "DNA" "" "" "0000105485" "00105012" "1" "00006" "00006" "2017-06-14 23:28:11" "" "" "SEQ" "DNA" "" "WES" "0000105523" "00105050" "1" "00006" "00006" "2017-06-16 19:15:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000105524" "00105051" "1" "00006" "00006" "2017-06-16 19:24:15" "" "" "SEQ" "DNA" "" "" "0000249355" "00248250" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000432987" "00430363" "1" "01082" "01082" "2023-02-15 00:54:49" "" "" "SEQ-NG" "DNA" "" "" "0000434600" "00433001" "1" "01082" "01082" "2023-03-01 13:48:21" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000003976" "AKAP11" "0000003976" "VEGFC" "0000003976" "XRCC4" "0000054769" "CHEK2" "0000054769" "FANCL" "0000054769" "XRCC4" "0000105477" "XRCC4" "0000105478" "XRCC4" "0000105479" "XRCC4" "0000105480" "XRCC4" "0000105481" "XRCC4" "0000105483" "XRCC4" "0000105484" "XRCC4" "0000105485" "XRCC4" "0000105523" "XRCC4" "0000105524" "XRCC4" ## 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 = 31 "{{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}}" "0000022851" "3" "70" "5" "82400865" "82400865" "subst" "1.63145E-5" "00549" "XRCC4_000001" "g.82400865T>C" "" "{PMID:Shaheen 2014:24389050}, {DOI:Shaheen 2014:10.1101/gr.160572.113}, {OMIM194363:0001}" "" "" "" "Germline" "yes" "rs587779351" "0" "" "" "g.83105046T>C" "" "likely pathogenic" "" "0000084781" "0" "70" "5" "82400763" "82400763" "del" "0" "01474" "XRCC4_000002" "g.82400763del" "" "" "" "25delC" "" "Germline" "" "" "0" "" "" "g.83104944del" "" "likely pathogenic" "" "0000170896" "3" "90" "5" "82400865" "82400865" "subst" "1.63145E-5" "00006" "XRCC4_000001" "g.82400865T>C" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0001}" "" "" "" "Germline" "" "rs587779351" "0" "" "" "g.83105046T>C" "" "pathogenic" "" "0000170897" "1" "90" "5" "82491754" "82491754" "subst" "8.26528E-6" "00006" "XRCC4_000003" "g.82491754C>T" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0006}" "" "" "" "Germline" "" "rs768825050" "0" "" "" "g.83195935C>T" "" "pathogenic" "" "0000170898" "2" "90" "5" "82500668" "82500668" "subst" "1.22112E-5" "00006" "XRCC4_000004" "g.82500668C>T" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0005}" "" "" "" "Germline" "" "rs779773463" "0" "" "" "g.83204849C>T" "" "pathogenic" "" "0000170899" "1" "90" "5" "82400763" "82400763" "del" "0" "00006" "XRCC4_000002" "g.82400763del" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0002}" "" "25delC" "" "Germline" "yes" "rs869320677" "0" "" "" "g.83104944del" "" "pathogenic" "" "0000170900" "2" "90" "5" "82554426" "82554426" "subst" "0" "00006" "XRCC4_000005" "g.82554426C>T" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0003}" "" "" "" "Germline" "yes" "rs797045016" "0" "" "" "g.83258607C>T" "" "pathogenic" "" "0000170901" "1" "90" "5" "82400763" "82400763" "del" "0" "00006" "XRCC4_000002" "g.82400763del" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0002}" "" "25delC" "" "Germline" "" "" "0" "" "" "g.83104944del" "" "pathogenic" "" "0000170902" "2" "90" "5" "82554426" "82554426" "subst" "0" "00006" "XRCC4_000005" "g.82554426C>T" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.83258607C>T" "" "pathogenic" "" "0000170903" "1" "90" "5" "82400763" "82400763" "del" "0" "00006" "XRCC4_000002" "g.82400763del" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0002}" "" "25delC" "" "Germline" "" "" "0" "" "" "g.83104944del" "" "pathogenic" "" "0000170904" "2" "90" "5" "82400728" "82400728" "subst" "0" "00006" "XRCC4_000006" "g.82400728G>T" "" "{PMID:Murray 2015:25728776}, {DOI:Murray 2015:10.1016/j.ajhg.2015.01.013}, {OMIM194363:0004}" "" "" "" "Germline" "" "rs869320678" "0" "" "" "g.83104909G>T" "" "pathogenic" "" "0000170907" "3" "90" "5" "82491755" "82491755" "subst" "4.14092E-6" "00006" "XRCC4_000007" "g.82491755G>A" "" "{PMID:Rosin 2015:25839420}, {DOI:Rosin 2015:doi.org/10.1093/hmg/ddv115}, {OMIM194363:0008}" "" "" "" "Germline" "yes" "rs797045017" "0" "" "" "g.83195936G>A" "" "pathogenic" "" "0000170908" "11" "90" "5" "82400763" "82400763" "del" "0" "00006" "XRCC4_000002" "g.82400763del" "" "{PMID:Rosin 2015:25839420}, {DOI:Rosin 2015:doi.org/10.1093/hmg/ddv115}, {OMIM194363:0002}" "" "25delC" "" "Germline" "" "" "0" "" "" "g.83104944del" "" "pathogenic" "" "0000170909" "21" "90" "5" "82554426" "82554426" "subst" "0" "00006" "XRCC4_000005" "g.82554426C>T" "" "{PMID:Rosin 2015:25839420}, {DOI:Rosin 2015:doi.org/10.1093/hmg/ddv115}" "" "" "" "Germline" "" "" "0" "" "" "g.83258607C>T" "" "pathogenic" "" "0000170910" "3" "90" "5" "82500668" "82500668" "subst" "1.22112E-5" "00006" "XRCC4_000004" "g.82500668C>T" "" "{PMID:Bee 2015:25872942}, {DOI:Bee 2015:10.15252/emmm.201404803}, {OMIM194363:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.83204849C>T" "" "pathogenic" "" "0000170972" "3" "90" "5" "82406953" "82406953" "subst" "0" "00006" "XRCC4_000008" "g.82406953T>G" "" "{PMID:de Bruin 2015:25742519}, {DOI:de Bruin 2015:10.1210/jc.2015-1098}, {OMIM194363:0007}" "" "" "" "Germline" "yes" "rs879255258" "0" "" "" "g.83111134T>G" "" "pathogenic" "" "0000170973" "1" "90" "5" "82500668" "82500668" "subst" "1.22112E-5" "00006" "XRCC4_000004" "g.82500668C>T" "" "{PMID:Guo 2015:26255102}, {DOI:Guo 2015:10.1016/j.jaci.2015.06.007}" "" "C673T" "" "Germline" "" "" "0" "" "" "g.83204849C>T" "" "pathogenic" "" "0000170974" "2" "90" "5" "82554363" "82554363" "del" "0" "00006" "XRCC4_000009" "g.82554363del" "" "{PMID:Guo 2015:26255102}, {DOI:Guo 2015:10.1016/j.jaci.2015.06.007}, {OMIM194363:0009}" "" "G760del" "" "Germline" "" "" "0" "" "" "g.83258544del" "" "pathogenic" "" "0000320071" "0" "50" "5" "82406873" "82406873" "subst" "0.00042916" "01943" "XRCC4_000010" "g.82406873G>A" "" "" "" "XRCC4(NM_022550.3):c.166G>A (p.A56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83111054G>A" "" "VUS" "" "0000320072" "0" "50" "5" "82406931" "82406931" "subst" "0.00140133" "01943" "XRCC4_000011" "g.82406931T>C" "" "" "" "XRCC4(NM_001318012.1):c.224T>C (p.L75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83111112T>C" "" "VUS" "" "0000526185" "0" "90" "5" "82400763" "82400763" "del" "0" "01943" "XRCC4_000002" "g.82400763del" "" "" "" "XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83104944del" "" "pathogenic" "" "0000526187" "0" "50" "5" "82499423" "82499423" "subst" "7.02073E-5" "01943" "TMEM167A_000002" "g.82499423C>T" "" "" "" "XRCC4(NM_022550.3):c.535C>T (p.R179W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83203604C>T" "" "VUS" "" "0000578118" "0" "50" "5" "82400763" "82400763" "del" "0" "01474" "XRCC4_000002" "g.82400763del" "" "{PMID:Lhota 2016:26822949}" "" "25delC" "" "Germline" "" "" "0" "" "" "g.83104944del" "" "VUS" "" "0000860013" "0" "90" "5" "82400763" "82400763" "del" "0" "02325" "XRCC4_000002" "g.82400763del" "" "" "" "XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886922" "0" "90" "5" "82499501" "82499501" "subst" "1.66432E-5" "02325" "TMEM167A_000004" "g.82499501C>T" "" "" "" "XRCC4(NM_022406.5):c.613C>T (p.R205*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918702" "0" "90" "5" "82400763" "82400763" "del" "0" "01082" "XRCC4_000002" "g.82400763del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83104944del" "208515" "pathogenic (recessive)" "ACMG" "0000920403" "0" "90" "5" "82400763" "82400763" "del" "0" "01082" "XRCC4_000002" "g.82400763del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.83104944del" "208515" "pathogenic (recessive)" "ACMG" "0000976869" "0" "50" "5" "82491754" "82491754" "subst" "8.26528E-6" "01804" "XRCC4_000003" "g.82491754C>T" "" "" "" "XRCC4(NM_003401.5):c.481C>T (p.(Arg161Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035330" "0" "50" "5" "82400801" "82400801" "subst" "4.06514E-6" "01804" "TMEM167A_000005" "g.82400801A>G" "" "" "" "XRCC4(NM_003401.5):c.63A>G (p.(Gln21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052012" "0" "90" "5" "82400763" "82400763" "del" "0" "01804" "XRCC4_000002" "g.82400763del" "" "" "" "XRCC4(NM_001318012.1):c.25delC (p.H9Tfs*8), XRCC4(NM_003401.5):c.25del (p.(His9ThrfsTer8)), XRCC4(NM_022406.5):c.25delC (p.H9Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052013" "0" "50" "5" "82500743" "82500743" "subst" "0" "01804" "TMEM167A_000006" "g.82500743A>G" "" "" "" "XRCC4(NM_003401.5):c.745+3A>G" "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 XRCC4 ## Count = 31 "{{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}}" "0000022851" "00024078" "70" "127" "0" "127" "0" "c.127T>C" "r.(?)" "p.(Trp43Arg)" "2" "0000084781" "00024078" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "2" "0000170896" "00024078" "90" "127" "0" "127" "0" "c.127T>C" "r.(?)" "p.(Trp43Arg)" "2" "0000170897" "00024078" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161*)" "4" "0000170898" "00024078" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "6" "0000170899" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "2" "0000170900" "00024078" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275*)" "7" "0000170901" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "1" "0000170902" "00024078" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275*)" "7" "0000170903" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "1" "0000170904" "00024078" "90" "-10" "-1" "-10" "-1" "c.-10-1G>T" "r.-10_139del" "p.0?" "1i" "0000170907" "00024078" "90" "482" "0" "482" "0" "c.482G>A" "r.[316_482del,140_482del,482g>a]" "p.[Phe106fs,Val47fs,Arg161Gln]" "4" "0000170908" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "2" "0000170909" "00024078" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275*)" "7" "0000170910" "00024078" "00" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "6" "0000170972" "00024078" "90" "246" "0" "246" "0" "c.246T>G" "r.247_315del" "p.Val83_Ser105del" "3" "0000170973" "00024078" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "6" "0000170974" "00024078" "90" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Asp254Metfs*68)" "7" "0000320071" "00024078" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Ala56Thr)" "" "0000320072" "00024078" "50" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Leu75Ser)" "" "0000526185" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9ThrfsTer8)" "" "0000526187" "00024078" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000578118" "00024078" "00" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "" "0000860013" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9ThrfsTer8)" "" "0000886922" "00024078" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205*)" "" "0000918702" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "" "0000920403" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9Thrfs*8)" "" "0000976869" "00024078" "50" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161*)" "" "0001035330" "00024078" "50" "63" "0" "63" "0" "c.63A>G" "r.(?)" "p.(=)" "" "0001052012" "00024078" "90" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(His9ThrfsTer8)" "" "0001052013" "00024078" "50" "745" "3" "745" "3" "c.745+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000003976" "0000022851" "0000054769" "0000084781" "0000105477" "0000170896" "0000105478" "0000170897" "0000105478" "0000170898" "0000105479" "0000170899" "0000105479" "0000170900" "0000105480" "0000170901" "0000105480" "0000170902" "0000105481" "0000170903" "0000105481" "0000170904" "0000105483" "0000170907" "0000105484" "0000170908" "0000105484" "0000170909" "0000105485" "0000170910" "0000105523" "0000170972" "0000105524" "0000170973" "0000105524" "0000170974" "0000249355" "0000578118" "0000432987" "0000918702" "0000434600" "0000920403"