### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DCLRE1C) # 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}}" "DCLRE1C" "DNA cross-link repair 1C" "10" "p13" "unknown" "LRG_54" "UD_132118477964" "" "https://www.LOVD.nl/DCLRE1C" "" "1" "17642" "64421" "605988" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DCLRE1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-13 11:34:43" "00006" "2025-11-14 08:41:10" ## 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}}" "00025622" "DCLRE1C" "transcript variant a" "003" "NM_001033855.1" "" "NP_001029027.1" "" "" "" "-85" "3616" "2079" "14996094" "14948870" "00006" "2021-06-15 12:44:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00988" "RSSCID" "immunodeficiency, severe combined, Athabascan type" "AR" "602450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02460" "Omenn" "Omenn syndrome" "AR" "603554" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DCLRE1C" "00988" "DCLRE1C" "02460" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00150100" "" "" "" "1" "" "02359" "" "" "M" "yes" "Turkey" "00y04m" "0" "" "" "white" "" "00150105" "" "" "" "1" "" "02359" "" "" "F" "yes" "Turkey" "00y04m" "0" "" "" "Turkısh" "" "00248282" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00290004" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290005" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334375" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334378" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334513" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334539" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334856" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334876" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335010" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00373334" "" "" "" "1" "" "04072" "{DOI:Strubbe 2021:10.3389/fimmu.2021.674226}" "" "" "?" "" "" "0" "" "" "" "" "00433060" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat31,1" "00433069" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Turkey" "25y" "0" "" "" "" "Pat40,1" "00468802" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040)" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00150100" "00988" "00150105" "00988" "00248282" "00318" "00290004" "00198" "00290005" "00198" "00334375" "05793" "00334378" "05793" "00334513" "05793" "00334539" "05793" "00334856" "05793" "00334876" "05793" "00335010" "05793" "00373334" "05608" "00433060" "05292" "00433069" "05292" "00468802" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 00988, 02460, 05292, 05608, 05793 ## Count = 14 "{{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}}" "0000122528" "00988" "00150100" "02359" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122529" "00988" "00150105" "02359" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187291" "00318" "00248282" "01474" "Unknown" "" "60y breast cancer" "60y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000253169" "05793" "00334375" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253171" "05793" "00334378" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253216" "05793" "00334513" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253229" "05793" "00334539" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253253" "05793" "00334856" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253269" "05793" "00334876" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253292" "05793" "00335010" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000268612" "05608" "00373334" "04072" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "T-B-NK+ SCID" "" "0000323586" "05292" "00433060" "00006" "Familial, autosomal recessive" "13y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323595" "05292" "00433069" "00006" "Familial, autosomal recessive" "25y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000353955" "00198" "00468802" "00006" "Unknown" "" "intractable seizures" "" "" "" "" "" "" "" "" "" "seizures" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000150956" "00150100" "1" "02359" "02359" "2018-01-09 13:24:24" "" "" "SEQ-NG-I" "DNA" "blood" "amplicon sequencing" "0000150961" "00150105" "1" "02359" "02359" "2018-01-10 09:28:35" "" "" "SEQ-NG-I" "DNA" "blood" "amplicon sequencing" "0000249387" "00248282" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000291172" "00290004" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291173" "00290005" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335603" "00334375" "1" "04011" "04011" "2021-02-28 10:07:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335606" "00334378" "1" "04011" "04011" "2021-02-28 11:01:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335742" "00334513" "1" "04011" "04011" "2021-03-01 09:57:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335768" "00334539" "1" "04011" "04011" "2021-03-01 13:35:32" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336085" "00334856" "1" "04011" "04011" "2021-03-02 06:08:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336105" "00334876" "1" "04011" "04011" "2021-03-02 09:44:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336239" "00335010" "1" "04011" "04011" "2021-03-03 01:51:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000374568" "00373334" "1" "04072" "04072" "2021-05-13 16:51:25" "04072" "2021-05-13 17:48:03" "SEQ-NG" "DNA" "" "" "0000434491" "00433060" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434500" "00433069" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000470470" "00468802" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000150961" "DCLRE1C" "0000374568" "DCLRE1C" ## 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 = 53 "{{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}}" "0000244101" "0" "90" "10" "14976497" "14976497" "subst" "0" "02359" "DCLRE1C_000001" "g.14976497A>C" "" "" "" "NM_001033855.1:c.560T>G" "" "Germline" "yes" "" "0" "" "" "g.14934498A>C" "" "pathogenic" "" "0000244107" "3" "90" "10" "14974918" "14974918" "del" "0" "02359" "DCLRE1C_000002" "g.14974918del" "" "" "" "NM_001033855.1:c.716delC" "" "Germline" "yes" "" "0" "" "" "g.14932919del" "" "pathogenic" "" "0000267286" "0" "10" "10" "14976727" "14976727" "subst" "0.0898444" "02325" "DCLRE1C_000007" "g.14976727G>C" "" "" "" "DCLRE1C(NM_001033858.3):c.152C>G (p.P51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14934728G>C" "" "benign" "" "0000270681" "0" "30" "10" "14950593" "14950593" "subst" "0.00372433" "02326" "DCLRE1C_000006" "g.14950593G>A" "" "" "" "DCLRE1C(NM_001033855.1):c.1893C>T (p.P631=), DCLRE1C(NM_001289079.1):c.1533C>T (p.P511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14908594G>A" "" "likely benign" "" "0000270682" "0" "30" "10" "14950592" "14950592" "subst" "0.00072383" "02326" "DCLRE1C_000005" "g.14950592C>T" "" "" "" "DCLRE1C(NM_001033855.1):c.1894G>A (p.E632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14908593C>T" "" "likely benign" "" "0000270683" "0" "30" "10" "14977469" "14977469" "subst" "0.0104256" "02326" "DCLRE1C_000008" "g.14977469C>T" "" "" "" "DCLRE1C(NM_001033858.3):c.97G>A (p.G33R), DCLRE1C(NM_001289079.2):c.97G>A (p.G33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14935470C>T" "" "likely benign" "" "0000274850" "0" "10" "10" "14950593" "14950593" "subst" "0.00372433" "01943" "DCLRE1C_000006" "g.14950593G>A" "" "" "" "DCLRE1C(NM_001033855.1):c.1893C>T (p.P631=), DCLRE1C(NM_001289079.1):c.1533C>T (p.P511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14908594G>A" "" "benign" "" "0000274852" "0" "30" "10" "14950485" "14950485" "subst" "0.00215114" "01943" "DCLRE1C_000003" "g.14950485T>C" "" "" "" "DCLRE1C(NM_001033855.1):c.2001A>G (p.L667=), DCLRE1C(NM_001289079.1):c.1641A>G (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14908486T>C" "" "likely benign" "" "0000274853" "0" "50" "10" "14995985" "14995985" "subst" "0" "01943" "DCLRE1C_000009" "g.14995985C>T" "" "" "" "DCLRE1C(NM_001033855.1):c.25G>A (p.A9T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14953986C>T" "" "VUS" "" "0000345206" "0" "90" "10" "14976495" "14976495" "subst" "0" "02327" "DCLRE1C_000010" "g.14976495C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14934496C>A" "" "pathogenic" "" "0000348150" "0" "50" "10" "14978549" "14978549" "subst" "0" "02327" "DCLRE1C_000011" "g.14978549G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14936550G>T" "" "VUS" "" "0000539584" "0" "30" "10" "14950485" "14950485" "subst" "0.00215114" "02326" "DCLRE1C_000003" "g.14950485T>C" "" "" "" "DCLRE1C(NM_001033855.1):c.2001A>G (p.L667=), DCLRE1C(NM_001289079.1):c.1641A>G (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14908486T>C" "" "likely benign" "" "0000539585" "0" "90" "10" "14950588" "14950588" "dup" "0" "01943" "DCLRE1C_000012" "g.14950588dup" "" "" "" "DCLRE1C(NM_001289079.1):c.1543dupA (p.S515Kfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14908589dup" "" "pathogenic" "" "0000539586" "0" "30" "10" "14974881" "14974881" "subst" "4.06101E-6" "01943" "DCLRE1C_000013" "g.14974881G>C" "" "" "" "DCLRE1C(NM_001289079.1):c.392C>G (p.T131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14932882G>C" "" "likely benign" "" "0000539587" "0" "50" "10" "14977469" "14977469" "subst" "1.62455E-5" "01943" "DCLRE1C_000014" "g.14977469C>A" "" "" "" "DCLRE1C(NM_001289079.1):c.97G>T (p.G33W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14935470C>A" "" "VUS" "" "0000539588" "0" "10" "10" "14977469" "14977469" "subst" "0.0104256" "02325" "DCLRE1C_000008" "g.14977469C>T" "" "" "" "DCLRE1C(NM_001033858.3):c.97G>A (p.G33R), DCLRE1C(NM_001289079.2):c.97G>A (p.G33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14935470C>T" "" "benign" "" "0000578155" "0" "50" "10" "14950588" "14950588" "dup" "0" "01474" "DCLRE1C_000012" "g.14950588dup" "" "{PMID:Lhota 2016:26822949}" "" "1903dupA" "" "Germline" "" "" "0" "" "" "g.14908589dup" "" "VUS" "" "0000612380" "0" "50" "10" "14976730" "14976730" "subst" "0" "02325" "DCLRE1C_000016" "g.14976730T>G" "" "" "" "DCLRE1C(NM_001289079.2):c.149A>C (p.D50A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14934731T>G" "" "VUS" "" "0000622358" "0" "30" "10" "14970023" "14970023" "subst" "4.07451E-6" "01943" "DCLRE1C_000015" "g.14970023T>G" "" "" "" "DCLRE1C(NM_001289079.1):c.549A>C (p.V183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14928024T>G" "" "likely benign" "" "0000622359" "0" "30" "10" "14977475" "14977475" "subst" "4.06098E-6" "02326" "DCLRE1C_000017" "g.14977475G>A" "" "" "" "DCLRE1C(NM_001033855.1):c.451C>T (p.H151Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14935476G>A" "" "likely benign" "" "0000622360" "0" "30" "10" "14977506" "14977506" "subst" "0.000125882" "01943" "DCLRE1C_000018" "g.14977506C>T" "" "" "" "DCLRE1C(NM_001289079.1):c.60G>A (p.A20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14935507C>T" "" "likely benign" "" "0000647861" "1" "50" "10" "14951101" "14951101" "subst" "0.000134161" "03575" "DCLRE1C_000019" "g.14951101T>A" "4/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs115250914}" "Germline" "" "rs115250914" "0" "" "" "g.14909102T>A" "" "VUS" "" "0000647862" "1" "30" "10" "14977469" "14977469" "subst" "0.0104256" "03575" "DCLRE1C_000008" "g.14977469C>T" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs41297018}" "Germline" "" "rs41297018" "0" "" "" "g.14935470C>T" "" "likely benign" "" "0000678810" "0" "70" "10" "14950436" "14950439" "del" "0" "01943" "DCLRE1C_000020" "g.14950436_14950439del" "" "" "" "DCLRE1C(NM_001289079.1):c.1690_1693delAAAA (p.K564Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690686" "0" "30" "10" "14976374" "14976374" "subst" "4.47187E-5" "02325" "DCLRE1C_000021" "g.14976374C>T" "" "" "" "DCLRE1C(NM_001033855.3):c.678+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722752" "0" "30" "10" "14950941" "14950941" "subst" "0.00135311" "01943" "DCLRE1C_000022" "g.14950941T>C" "" "" "" "DCLRE1C(NM_001289079.1):c.1185A>G (p.G395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722753" "0" "30" "10" "14964998" "14964998" "subst" "0" "01943" "DCLRE1C_000023" "g.14964998A>G" "" "" "" "DCLRE1C(NM_001289079.1):c.683T>C (p.M228T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722754" "0" "30" "10" "14965033" "14965033" "subst" "0.000585333" "02326" "DCLRE1C_000024" "g.14965033G>A" "" "" "" "DCLRE1C(NM_001289079.2):c.648C>T (p.N216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734239" "0" "70" "10" "14951101" "14951101" "subst" "0.000134161" "04011" "DCLRE1C_000019" "g.14951101T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734246" "0" "70" "10" "14951152" "14951152" "subst" "0.000215423" "04011" "DCLRE1C_000025" "g.14951152C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734548" "0" "70" "10" "14950813" "14950813" "subst" "0" "04011" "DCLRE1C_000026" "g.14950813A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734629" "0" "70" "10" "14951101" "14951101" "subst" "0.000134161" "04011" "DCLRE1C_000019" "g.14951101T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735068" "0" "70" "10" "14951101" "14951101" "subst" "0.000134161" "04011" "DCLRE1C_000019" "g.14951101T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735138" "0" "70" "10" "14951101" "14951101" "subst" "0.000134161" "04011" "DCLRE1C_000019" "g.14951101T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735410" "0" "70" "10" "14976470" "14976470" "subst" "4.06118E-5" "04011" "DCLRE1C_000027" "g.14976470C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000785359" "3" "90" "10" "14976775" "14976775" "subst" "0" "04072" "DCLRE1C_000028" "g.14976775C>G" "" "{DOI:Strubbe 2021:10.3389/fimmu.2021.674226}" "" "" "" "Germline" "yes" "" "0" "" "" "g.14934776C>G" "" "pathogenic" "ACMG" "0000804358" "0" "30" "10" "14951202" "14951202" "subst" "0.000496225" "01943" "SUV39H2_000001" "g.14951202T>G" "" "" "" "DCLRE1C(NM_001033855.1):c.1284A>C (p.K428N), DCLRE1C(NM_001289079.1):c.924A>C (p.K308N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804359" "0" "30" "10" "14951202" "14951202" "subst" "0.000496225" "02326" "SUV39H2_000001" "g.14951202T>G" "" "" "" "DCLRE1C(NM_001033855.1):c.1284A>C (p.K428N), DCLRE1C(NM_001289079.1):c.924A>C (p.K308N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804360" "0" "30" "10" "14961745" "14961745" "subst" "0" "01943" "DCLRE1C_000029" "g.14961745C>T" "" "" "" "DCLRE1C(NM_001289079.1):c.788G>A (p.R263Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804361" "0" "30" "10" "14995974" "14995974" "subst" "0.000182891" "01943" "MEIG1_000001" "g.14995974T>G" "" "" "" "DCLRE1C(NM_001350965.1):c.36A>C (p.P12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861869" "0" "10" "10" "14968855" "14968855" "subst" "0.00260819" "02325" "DCLRE1C_000030" "g.14968855G>C" "" "" "" "DCLRE1C(NM_001033855.3):c.959C>G (p.S320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861870" "0" "50" "10" "14987153" "14987153" "subst" "0" "01943" "DCLRE1C_000031" "g.14987153T>C" "" "" "" "DCLRE1C(NM_001350965.1):c.197A>G (p.K66R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889074" "0" "30" "10" "14951262" "14951262" "subst" "4.07894E-5" "02326" "SUV39H2_000003" "g.14951262C>T" "" "" "" "DCLRE1C(NM_001033855.1):c.1224G>A (p.P408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889075" "0" "30" "10" "14976682" "14976682" "subst" "0.000694416" "02326" "DCLRE1C_000032" "g.14976682G>T" "" "" "" "DCLRE1C(NM_001033855.1):c.537+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913248" "0" "30" "10" "14970171" "14970171" "subst" "0" "02326" "DCLRE1C_000033" "g.14970171T>C" "" "" "" "DCLRE1C(NM_001033855.1):c.781-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920250" "3" "50" "10" "14987156" "14987156" "subst" "0" "00006" "DCLRE1C_000035" "g.14987156G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.14945157G>A" "" "VUS" "ACMG" "0000920256" "3" "70" "10" "14976425" "14976425" "subst" "0" "00006" "DCLRE1C_000034" "g.14976425C>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.14934426C>A" "" "likely pathogenic" "ACMG" "0000925135" "0" "30" "10" "14950569" "14950569" "subst" "0" "02326" "SUV39H2_000004" "g.14950569A>G" "" "" "" "DCLRE1C(NM_001033855.1):c.1917T>C (p.L639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929658" "0" "30" "10" "14976765" "14976765" "subst" "8.12367E-6" "02326" "DCLRE1C_000036" "g.14976765G>A" "" "" "" "DCLRE1C(NM_001033855.1):c.474C>T (p.D158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978978" "0" "50" "10" "14951263" "14951263" "subst" "8.15335E-6" "01804" "SUV39H2_000009" "g.14951263G>A" "" "" "" "DCLRE1C(NM_001033855.3):c.1223C>T (p.(Pro408Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998218" "0" "90" "10" "14978546" "14978546" "subst" "0" "02327" "DCLRE1C_000037" "g.14978546C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029524" "0" "30" "10" "14974886" "14974886" "subst" "0" "03779" "DCLRE1C_000038" "g.14974886G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001058592" "3" "90" "10" "14950588" "14950588" "dup" "0" "00006" "DCLRE1C_000012" "g.14950588dup" "" "{PMID:Retterer 2016:26633542}" "" "1903dupA" "" "Germline" "" "" "0" "" "" "g.14908589dup" "" "pathogenic (recessive)" "" ## 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 DCLRE1C ## Count = 53 "{{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}}" "0000244101" "00025622" "90" "560" "0" "560" "0" "c.560T>G" "r.(?)" "p.(Leu187*)" "" "0000244107" "00025622" "90" "715" "0" "715" "0" "c.715del" "r.(?)" "p.(Pro239Leufs*46)" "" "0000267286" "00025622" "10" "512" "0" "512" "0" "c.512C>G" "r.(?)" "p.(Pro171Arg)" "" "0000270681" "00025622" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Pro631=)" "" "0000270682" "00025622" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Glu632Lys)" "" "0000270683" "00025622" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Arg)" "" "0000274850" "00025622" "10" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Pro631=)" "" "0000274852" "00025622" "30" "2001" "0" "2001" "0" "c.2001A>G" "r.(?)" "p.(Leu667=)" "" "0000274853" "00025622" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Ala9Thr)" "" "0000345206" "00025622" "90" "562" "0" "562" "0" "c.562G>T" "r.(?)" "p.(Glu188Ter)" "" "0000348150" "00025622" "50" "350" "0" "350" "0" "c.350C>A" "r.(?)" "p.(Pro117Gln)" "" "0000539584" "00025622" "30" "2001" "0" "2001" "0" "c.2001A>G" "r.(?)" "p.(Leu667=)" "" "0000539585" "00025622" "90" "1903" "0" "1903" "0" "c.1903dup" "r.(?)" "p.(Ser635LysfsTer6)" "" "0000539586" "00025622" "30" "752" "0" "752" "0" "c.752C>G" "r.(?)" "p.(Thr251Ser)" "" "0000539587" "00025622" "50" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.(Gly153Trp)" "" "0000539588" "00025622" "10" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Arg)" "" "0000578155" "00025622" "50" "1898" "0" "1898" "0" "c.1898dup" "r.(?)" "p.(Ser635Lysfs*6)" "" "0000612380" "00025622" "50" "509" "0" "509" "0" "c.509A>C" "r.(?)" "p.(Asp170Ala)" "" "0000622358" "00025622" "30" "909" "0" "909" "0" "c.909A>C" "r.(?)" "p.(Val303=)" "" "0000622359" "00025622" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(His151Tyr)" "" "0000622360" "00025622" "30" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Ala140=)" "" "0000647861" "00025622" "50" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000647862" "00025622" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Arg)" "" "0000678810" "00025622" "70" "2050" "0" "2053" "0" "c.2050_2053del" "r.(?)" "p.(Lys684GlufsTer6)" "" "0000690686" "00025622" "30" "678" "5" "678" "5" "c.678+5G>A" "r.spl?" "p.?" "" "0000722752" "00025622" "30" "1545" "0" "1545" "0" "c.1545A>G" "r.(?)" "p.(Gly515=)" "" "0000722753" "00025622" "30" "1043" "0" "1043" "0" "c.1043T>C" "r.(?)" "p.(Met348Thr)" "" "0000722754" "00025622" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Asn336=)" "" "0000734239" "00025622" "50" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000734246" "00025622" "50" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "" "0000734548" "00025622" "50" "1673" "0" "1673" "0" "c.1673T>C" "r.(?)" "p.(Val558Ala)" "" "0000734629" "00025622" "50" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000735068" "00025622" "50" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000735138" "00025622" "50" "1385" "0" "1385" "0" "c.1385A>T" "r.(?)" "p.(Glu462Val)" "" "0000735410" "00025622" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "0000785359" "00025622" "90" "465" "-1" "465" "-1" "c.465-1G>C" "r.spl" "p.?" "" "0000804358" "00025622" "30" "1284" "0" "1284" "0" "c.1284A>C" "r.(?)" "p.(Lys428Asn)" "" "0000804359" "00025622" "30" "1284" "0" "1284" "0" "c.1284A>C" "r.(?)" "p.(Lys428Asn)" "" "0000804360" "00025622" "30" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383Gln)" "" "0000804361" "00025622" "30" "36" "0" "36" "0" "c.36A>C" "r.(?)" "p.(Pro12=)" "" "0000861869" "00025622" "10" "959" "0" "959" "0" "c.959C>G" "r.(?)" "p.(Ser320Cys)" "" "0000861870" "00025622" "50" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Lys66Arg)" "" "0000889074" "00025622" "30" "1224" "0" "1224" "0" "c.1224G>A" "r.(?)" "p.(Pro408=)" "" "0000889075" "00025622" "30" "537" "20" "537" "20" "c.537+20C>A" "r.(=)" "p.(=)" "" "0000913248" "00025622" "30" "781" "-20" "781" "-20" "c.781-20A>G" "r.(=)" "p.(=)" "" "0000920250" "00025622" "50" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Ile)" "3" "0000920256" "00025622" "70" "632" "0" "632" "0" "c.632G>T" "r.(?)" "p.(Gly211Val)" "10" "0000925135" "00025622" "30" "1917" "0" "1917" "0" "c.1917T>C" "r.(?)" "p.(Leu639=)" "" "0000929658" "00025622" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(=)" "" "0000978978" "00025622" "50" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Pro408Leu)" "" "0000998218" "00025622" "90" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Gly118Val)" "" "0001029524" "00025622" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Arg249=)" "" "0001058592" "00025622" "90" "1903" "0" "1903" "0" "c.1903dup" "r.(?)" "p.(Ser635LysfsTer6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000150956" "0000244101" "0000150961" "0000244107" "0000249387" "0000578155" "0000291172" "0000647861" "0000291173" "0000647862" "0000335603" "0000734239" "0000335606" "0000734246" "0000335742" "0000734548" "0000335768" "0000734629" "0000336085" "0000735068" "0000336105" "0000735138" "0000336239" "0000735410" "0000374568" "0000785359" "0000434491" "0000920250" "0000434500" "0000920256" "0000470470" "0001058592"