### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAG2) # 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}}" "RAG2" "recombination activating gene 2" "11" "p13" "unknown" "NG_007573.1" "UD_132118473824" "" "https://www.LOVD.nl/RAG2" "" "1" "9832" "5897" "179616" "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/RAG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-01-13 11:57:07" "00000" "2025-02-07 18:57:27" ## 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}}" "00000136" "RAG2" "recombination activating gene 2, transcript variant 1 (expired, new version available)" "001" "NM_000536.2" "" "NP_000527.2" "" "" "" "-205" "2226" "1584" "36619829" "36613493" "00002" "2012-05-11 13:12:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01829" "CCHIDG" "immune defects, combined cellular and humoral with granulomas (CCHIDG)" "AR" "233650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02363" "SCIDN" "immunodeficiency, severe combined, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" "AR" "601457" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02460" "Omenn" "Omenn syndrome" "AR" "603554" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02806" "IMD104" "immunodeficiency, type 104, severe combined" "AR" "608971" "brain" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-17 16:05:54" "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 = 3 "{{geneid}}" "{{diseaseid}}" "RAG2" "01829" "RAG2" "02363" "RAG2" "02460" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00150111" "" "" "" "1" "" "02359" "" "" "M" "yes" "Turkey" "00y09m" "0" "" "" "Turkısh" "" "00290386" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290387" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290388" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290389" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290390" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304304" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334363" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334369" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334545" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334847" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334872" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335038" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00150111" "02806" "00290386" "00198" "00290387" "00198" "00290388" "00198" "00290389" "00198" "00290390" "00198" "00304304" "00198" "00334363" "05793" "00334369" "05793" "00334545" "05793" "00334847" "05793" "00334872" "05793" "00335038" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01829, 02363, 02460, 02806, 05793 ## Count = 7 "{{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}}" "0000122513" "02806" "00150111" "02359" "Familial, autosomal recessive" "00y09m" "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" "" "" "" "" "" "" "" "" "" "" "" "0000253158" "05793" "00334363" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253164" "05793" "00334369" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253235" "05793" "00334545" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253244" "05793" "00334847" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253267" "05793" "00334872" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253320" "05793" "00335038" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000150966" "00150111" "1" "02359" "02359" "2018-01-10 10:01:36" "" "" "SEQ-NG" "DNA" "blood" "amplicon sequencing" "0000291554" "00290386" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291555" "00290387" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291556" "00290388" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291557" "00290389" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291558" "00290390" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305433" "00304304" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335591" "00334363" "1" "04011" "04011" "2021-02-28 05:29:57" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335597" "00334369" "1" "04011" "04011" "2021-02-28 08:45:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335774" "00334545" "1" "04011" "04011" "2021-03-01 14:26:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336076" "00334847" "1" "04011" "04011" "2021-03-02 02:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336101" "00334872" "1" "04011" "04011" "2021-03-02 09:31:09" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336267" "00335038" "1" "04011" "04011" "2021-03-03 06:18:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000150966" "RAG2" ## 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 = 44 "{{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}}" "0000000230" "0" "50" "11" "36614227" "36614227" "subst" "4.06095E-5" "00002" "RAG2_000001" "g.36614227T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.36592677T>A" "" "VUS" "" "0000244113" "3" "90" "11" "36614277" "36614277" "subst" "0" "02359" "RAG2_000002" "g.36614277T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.36592727T>C" "" "pathogenic" "" "0000251802" "0" "30" "11" "36614624" "36614624" "subst" "0.00162901" "02326" "RAG2_000004" "g.36614624A>G" "" "" "" "RAG2(NM_001243786.1):c.1095T>C (p.S365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593074A>G" "" "likely benign" "" "0000301348" "0" "30" "11" "36614561" "36614561" "subst" "0.00964578" "02326" "RAG2_000003" "g.36614561G>T" "" "" "" "RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593011G>T" "" "likely benign" "" "0000301349" "0" "30" "11" "36615697" "36615697" "subst" "0.00350002" "02326" "RAG2_000006" "g.36615697C>T" "" "" "" "RAG2(NM_001243786.1):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36594147C>T" "" "likely benign" "" "0000306734" "0" "30" "11" "36615697" "36615697" "subst" "0.00350002" "01943" "RAG2_000006" "g.36615697C>T" "" "" "" "RAG2(NM_001243786.1):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36594147C>T" "" "likely benign" "" "0000306735" "0" "50" "11" "36614905" "36614905" "subst" "8.12486E-6" "01943" "RAG2_000005" "g.36614905C>G" "" "" "" "RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593355C>G" "" "VUS" "" "0000347366" "0" "70" "11" "36615403" "36615403" "subst" "0" "02327" "RAG2_000007" "g.36615403T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593853T>C" "" "likely pathogenic" "" "0000543875" "0" "50" "11" "36614203" "36614203" "subst" "0.00013809" "02325" "RAG2_000008" "g.36614203G>A" "" "" "" "RAG2(NM_001243786.2):c.1516C>T (p.R506C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592653G>A" "" "VUS" "" "0000543876" "0" "50" "11" "36614215" "36614215" "subst" "0.0019331" "01943" "RAG2_000009" "g.36614215T>C" "" "" "" "RAG2(NM_001243786.1):c.1504A>G (p.M502V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592665T>C" "" "VUS" "" "0000543877" "0" "30" "11" "36614270" "36614270" "subst" "4.06339E-6" "02326" "RAG2_000010" "g.36614270C>T" "" "" "" "RAG2(NM_001243786.1):c.1449G>A (p.E483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592720C>T" "" "likely benign" "" "0000543878" "0" "30" "11" "36614528" "36614528" "subst" "2.03148E-5" "02326" "RAG2_000011" "g.36614528A>G" "" "" "" "RAG2(NM_001243786.1):c.1191T>C (p.D397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592978A>G" "" "likely benign" "" "0000543879" "0" "50" "11" "36614810" "36614810" "subst" "0.000121925" "01943" "RAG2_000012" "g.36614810C>A" "" "" "" "RAG2(NM_001243786.1):c.909G>T (p.E303D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593260C>A" "" "VUS" "" "0000543880" "0" "30" "11" "36614855" "36614855" "subst" "8.12711E-6" "01943" "RAG2_000013" "g.36614855G>A" "" "" "" "RAG2(NM_001243786.1):c.864C>T (p.N288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593305G>A" "" "likely benign" "" "0000613326" "0" "10" "11" "36614561" "36614561" "subst" "0.00964578" "02325" "RAG2_000003" "g.36614561G>T" "" "" "" "RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593011G>T" "" "benign" "" "0000613327" "0" "50" "11" "36614592" "36614592" "subst" "8.1248E-6" "01943" "RAG2_000015" "g.36614592G>C" "" "" "" "RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593042G>C" "" "VUS" "" "0000613328" "0" "50" "11" "36614592" "36614592" "subst" "8.1248E-6" "02325" "RAG2_000015" "g.36614592G>C" "" "" "" "RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593042G>C" "" "VUS" "" "0000613329" "0" "50" "11" "36615705" "36615705" "subst" "0.000135222" "02325" "RAG2_000016" "g.36615705A>T" "" "" "" "RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36594155A>T" "" "VUS" "" "0000622627" "0" "50" "11" "36614521" "36614521" "subst" "0.000536341" "02325" "RAG2_000014" "g.36614521C>G" "" "" "" "RAG2(NM_001243786.2):c.1198G>C (p.D400H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592971C>G" "" "VUS" "" "0000622628" "0" "30" "11" "36614624" "36614624" "subst" "0.00162901" "01943" "RAG2_000004" "g.36614624A>G" "" "" "" "RAG2(NM_001243786.1):c.1095T>C (p.S365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593074A>G" "" "likely benign" "" "0000648243" "1" "50" "11" "36614472" "36614472" "subst" "4.46777E-5" "03575" "RAG2_000017" "g.36614472C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs193922572}" "Germline" "" "rs193922572" "0" "" "" "g.36592922C>A" "" "VUS" "" "0000648244" "1" "30" "11" "36614561" "36614561" "subst" "0.00964578" "03575" "RAG2_000003" "g.36614561G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs34629171}" "Germline" "" "rs34629171" "0" "" "" "g.36593011G>T" "" "likely benign" "" "0000648245" "1" "70" "11" "36615172" "36615172" "subst" "0" "03575" "RAG2_000018" "g.36615172A>G" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs786205468}" "Germline" "" "rs786205468" "0" "" "" "g.36593622A>G" "" "likely pathogenic" "" "0000648246" "1" "50" "11" "36615615" "36615615" "subst" "8.12506E-6" "03575" "RAG2_000019" "g.36615615C>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs148508754}" "Germline" "" "rs148508754" "0" "" "" "g.36594065C>G" "" "VUS" "" "0000648247" "1" "50" "11" "36615697" "36615697" "subst" "0.00350002" "03575" "RAG2_000006" "g.36615697C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs150762709}" "Germline" "" "rs150762709" "0" "" "" "g.36594147C>T" "" "VUS" "" "0000656786" "0" "30" "11" "36614645" "36614645" "subst" "0.000207191" "01943" "RAG2_000020" "g.36614645C>T" "" "" "" "RAG2(NM_001243786.1):c.1074G>A (p.E358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593095C>T" "" "likely benign" "" "0000669121" "3" "70" "11" "36615172" "36615172" "subst" "0" "03575" "RAG2_000018" "g.36615172A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs786205468}" "Germline" "" "rs786205468" "0" "" "" "g.36593622A>G" "" "likely pathogenic" "" "0000679181" "0" "50" "11" "36615705" "36615705" "subst" "0.000135222" "01943" "RAG2_000016" "g.36615705A>T" "" "" "" "RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723439" "0" "10" "11" "36615075" "36615075" "subst" "0.00331516" "02326" "RAG2_000021" "g.36615075G>A" "" "" "" "RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723440" "0" "70" "11" "36615367" "36615367" "del" "0" "01943" "RAG2_000022" "g.36615367del" "" "" "" "RAG2(NM_001243786.1):c.356delA (p.K119Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000734185" "0" "70" "11" "36614820" "36614820" "subst" "0.000215402" "04011" "RAG2_000023" "g.36614820C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734210" "0" "70" "11" "36615277" "36615277" "subst" "0" "04011" "RAG2_000024" "g.36615277G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734211" "0" "70" "11" "36615277" "36615277" "subst" "0" "04011" "RAG2_000024" "g.36615277G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734657" "0" "70" "11" "36614154" "36614154" "subst" "2.84379E-5" "04011" "RAG2_000025" "g.36614154A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735011" "0" "70" "11" "36614781" "36614781" "subst" "4.06283E-6" "04011" "RAG2_000026" "g.36614781T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735129" "0" "70" "11" "36614905" "36614905" "subst" "0.000154372" "04011" "RAG2_000027" "g.36614905C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735522" "0" "70" "11" "36614820" "36614820" "subst" "0.000215402" "04011" "RAG2_000023" "g.36614820C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000805113" "0" "70" "11" "36615615" "36615615" "subst" "8.12506E-6" "01943" "RAG2_000019" "g.36615615C>G" "" "" "" "RAG2(NM_001243786.1):c.104G>C (p.G35A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852892" "0" "70" "11" "36614367" "36614367" "subst" "4.06068E-5" "02327" "RAG2_000028" "g.36614367C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852893" "0" "50" "11" "36615190" "36615190" "subst" "0" "02327" "RAG2_000029" "g.36615190C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852894" "0" "50" "11" "36615352" "36615352" "subst" "0.000260053" "01943" "RAG2_000030" "g.36615352G>A" "" "" "" "RAG2(NM_001243786.1):c.367C>T (p.R123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889818" "0" "50" "11" "36615075" "36615075" "subst" "0.00331516" "02325" "RAG2_000021" "g.36615075G>A" "" "" "" "RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889819" "0" "50" "11" "36615088" "36615088" "subst" "4.0619E-6" "02325" "RAG2_000031" "g.36615088C>T" "" "" "" "RAG2(NM_000536.4):c.631G>A (p.A211T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929859" "0" "50" "11" "36614905" "36614905" "subst" "8.12486E-6" "02325" "RAG2_000005" "g.36614905C>G" "" "" "" "RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L)" "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 RAG2 ## Count = 44 "{{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}}" "0000000230" "00000136" "50" "1492" "0" "1492" "0" "c.1492A>T" "r.(?)" "p.(Lys498*)" "" "0000244113" "00000136" "90" "1442" "0" "1442" "0" "c.1442A>G" "r.(?)" "p.(His481Arg)" "2" "0000251802" "00000136" "30" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(=)" "" "0000301348" "00000136" "30" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(Phe386Leu)" "" "0000301349" "00000136" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Ile)" "" "0000306734" "00000136" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Ile)" "" "0000306735" "00000136" "50" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Val272Leu)" "" "0000347366" "00000136" "70" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Lys106Glu)" "" "0000543875" "00000136" "50" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506Cys)" "" "0000543876" "00000136" "50" "1504" "0" "1504" "0" "c.1504A>G" "r.(?)" "p.(Met502Val)" "" "0000543877" "00000136" "30" "1449" "0" "1449" "0" "c.1449G>A" "r.(?)" "p.(=)" "" "0000543878" "00000136" "30" "1191" "0" "1191" "0" "c.1191T>C" "r.(?)" "p.(=)" "" "0000543879" "00000136" "50" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Glu303Asp)" "" "0000543880" "00000136" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(=)" "" "0000613326" "00000136" "10" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(Phe386Leu)" "" "0000613327" "00000136" "50" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Thr376Ser)" "" "0000613328" "00000136" "50" "1127" "0" "1127" "0" "c.1127C>G" "r.(?)" "p.(Thr376Ser)" "" "0000613329" "00000136" "50" "14" "0" "14" "0" "c.14T>A" "r.(?)" "p.(Met5Lys)" "" "0000622627" "00000136" "50" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Asp400His)" "" "0000622628" "00000136" "30" "1095" "0" "1095" "0" "c.1095T>C" "r.(?)" "p.(=)" "" "0000648243" "00000136" "50" "1247" "0" "1247" "0" "c.1247G>T" "r.(?)" "p.(Trp416Leu)" "" "0000648244" "00000136" "30" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(Phe386Leu)" "" "0000648245" "00000136" "70" "547" "0" "547" "0" "c.547T>C" "r.(?)" "p.(Phe183Leu)" "" "0000648246" "00000136" "50" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.(Gly35Ala)" "" "0000648247" "00000136" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Ile)" "" "0000656786" "00000136" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "" "0000669121" "00000136" "70" "547" "0" "547" "0" "c.547T>C" "r.(?)" "p.(Phe183Leu)" "" "0000679181" "00000136" "50" "14" "0" "14" "0" "c.14T>A" "r.(?)" "p.(Met5Lys)" "" "0000723439" "00000136" "10" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Ile)" "" "0000723440" "00000136" "70" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Lys119Argfs*12)" "" "0000734185" "00000136" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000734210" "00000136" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000734211" "00000136" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000734657" "00000136" "50" "1565" "0" "1565" "0" "c.1565T>G" "r.(?)" "p.(Leu522Arg)" "" "0000735011" "00000136" "50" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(His313Arg)" "" "0000735129" "00000136" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000735522" "00000136" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000805113" "00000136" "70" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.(Gly35Ala)" "" "0000852892" "00000136" "70" "1352" "0" "1352" "0" "c.1352G>C" "r.(?)" "p.(Gly451Ala)" "" "0000852893" "00000136" "50" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Asp177His)" "" "0000852894" "00000136" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Cys)" "" "0000889818" "00000136" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Ile)" "" "0000889819" "00000136" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Ala211Thr)" "" "0000929859" "00000136" "50" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Val272Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000028" "0000000230" "0000150966" "0000244113" "0000291554" "0000648243" "0000291555" "0000648244" "0000291556" "0000648245" "0000291557" "0000648246" "0000291558" "0000648247" "0000305433" "0000669121" "0000335591" "0000734185" "0000335597" "0000734210" "0000335597" "0000734211" "0000335774" "0000734657" "0000336076" "0000735011" "0000336101" "0000735129" "0000336267" "0000735522"