### 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" "00000" "2025-07-08 13:22:38" ## 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 = 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}}" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 00988, 02460, 05292, 05608, 05793 ## Count = 13 "{{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" "" ## 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}}" "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" "" "" ## 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 = 52 "{{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" "" ## 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 = 52 "{{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=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{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"