### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD79A) # 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}}" "CD79A" "CD79a molecule, immunoglobulin-associated alpha" "19" "q13.2" "unknown" "LRG_42" "UD_132118943748" "" "http://www.LOVD.nl/CD79A" "" "1" "1698" "973" "112205" "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/CD79A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-02 20:19:40" "00000" "2023-11-27 17:35:39" ## 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}}" "00004723" "CD79A" "transcript variant 1" "001" "NM_001783.3" "" "NP_001774.1" "" "" "" "-185" "1073" "681" "42381190" "42385439" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03352" "AGM2" "agammaglobulinemia, type 2, autosomal recessive (AGM2)" "AR" "613500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03353" "AGM3" "agammaglobulinemia, type 3, autosomal recessive (AGM3)" "AR" "613501" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 1 "{{geneid}}" "{{diseaseid}}" "CD79A" "03353" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00051541" "" "" "" "1" "" "01405" "" "" "F" "yes" "(Algeria)" "" "0" "" "intravenous immunoglobulins" "" "" "00335014" "" "" "" "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 = 2 "{{individualid}}" "{{diseaseid}}" "00051541" "03352" "00335014" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03352, 03353, 05793 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038134" "03352" "00051541" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000253296" "05793" "00335014" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000051490" "00051541" "1" "01405" "01405" "2015-10-02 15:09:18" "" "" "SEQ" "DNA" "blood" "" "0000336243" "00335014" "1" "04011" "04011" "2021-03-03 02:07:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000051490" "CD79A" ## 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 = 17 "{{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}}" "0000080543" "3" "70" "19" "42383177" "42383177" "subst" "0" "01405" "CD79A_000001" "g.42383177G>A" "" "" "" "g.1988G>A" "" "Germline" "yes" "" "0" "" "" "g.41879107G>A" "" "likely pathogenic" "" "0000252319" "0" "30" "19" "42383043" "42383043" "subst" "0" "02326" "CD79A_000002" "g.42383043A>C" "" "" "" "CD79A(NM_001783.3):c.80-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41878973A>C" "" "likely benign" "" "0000254985" "0" "30" "19" "42385009" "42385009" "subst" "0.000194379" "01943" "CD79A_000005" "g.42385009A>G" "" "" "" "CD79A(NM_001783.3):c.643A>G (p.S215G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41880942A>G" "" "likely benign" "" "0000266576" "0" "50" "19" "42383351" "42383351" "subst" "0.000779999" "02325" "CD79A_000003" "g.42383351G>A" "" "" "" "CD79A(NM_001783.4):c.371G>A (p.R124H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41879281G>A" "" "VUS" "" "0000272885" "0" "50" "19" "42383644" "42383644" "subst" "0.00131981" "01943" "CD79A_000004" "g.42383644C>A" "" "" "" "CD79A(NM_001783.3):c.419C>A (p.T140N), CD79A(NM_001783.4):c.419C>A (p.T140N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41879574C>A" "" "VUS" "" "0000567453" "0" "30" "19" "42381402" "42381402" "subst" "0.00064991" "01943" "CD79A_000006" "g.42381402G>A" "" "" "" "CD79A(NM_001783.3):c.28G>A (p.A10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41877332G>A" "" "likely benign" "" "0000567454" "0" "30" "19" "42383249" "42383249" "subst" "7.34736E-5" "02326" "ARHGEF1_000003" "g.42383249C>T" "" "" "" "CD79A(NM_001783.3):c.269C>T (p.T90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41879179C>T" "" "likely benign" "" "0000567455" "0" "30" "19" "42383337" "42383337" "subst" "1.23842E-5" "01943" "ARHGEF1_000004" "g.42383337C>T" "" "" "" "CD79A(NM_001783.3):c.357C>T (p.C119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41879267C>T" "" "likely benign" "" "0000567456" "0" "50" "19" "42383620" "42383620" "subst" "1.69023E-5" "01943" "ARHGEF1_000005" "g.42383620C>T" "" "" "" "CD79A(NM_001783.3):c.395C>T (p.P132L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41879550C>T" "" "VUS" "" "0000567457" "0" "50" "19" "42383644" "42383644" "subst" "0.00131981" "02325" "CD79A_000004" "g.42383644C>A" "" "" "" "CD79A(NM_001783.3):c.419C>A (p.T140N), CD79A(NM_001783.4):c.419C>A (p.T140N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41879574C>A" "" "VUS" "" "0000567458" "0" "10" "19" "42384723" "42384723" "subst" "0" "02326" "ARHGEF1_000006" "g.42384723A>C" "" "" "" "CD79A(NM_001783.3):c.499-14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41880656A>C" "" "benign" "" "0000681421" "0" "30" "19" "42388536" "42388536" "subst" "5.89489E-5" "01943" "ARHGEF1_000016" "g.42388536T>A" "" "" "" "ARHGEF1(NM_199002.1):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727383" "0" "50" "19" "42383677" "42383677" "subst" "4.14721E-6" "01943" "ARHGEF1_000017" "g.42383677T>C" "" "" "" "CD79A(NM_001783.3):c.452T>C (p.I151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735428" "0" "70" "19" "42383204" "42383204" "subst" "0.000292711" "04011" "CD79A_000007" "g.42383204C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808889" "0" "50" "19" "42383350" "42383350" "subst" "0.00013692" "02325" "ARHGEF1_000020" "g.42383350C>T" "" "" "" "CD79A(NM_001783.3):c.370C>T (p.R124C), CD79A(NM_001783.4):c.370C>T (p.R124C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926894" "0" "50" "19" "42383350" "42383350" "subst" "0.00013692" "02326" "ARHGEF1_000020" "g.42383350C>T" "" "" "" "CD79A(NM_001783.3):c.370C>T (p.R124C), CD79A(NM_001783.4):c.370C>T (p.R124C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951301" "0" "90" "19" "42383213" "42383214" "del" "4.0664E-6" "02326" "ARHGEF1_000029" "g.42383213_42383214del" "" "" "" "CD79A(NM_001783.3):c.233_234delCT (p.P78Rfs*103)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 CD79A ## Count = 17 "{{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}}" "0000080543" "00004723" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Trp66*)" "2" "0000252319" "00004723" "30" "80" "-17" "80" "-17" "c.80-17A>C" "r.(=)" "p.(=)" "" "0000254985" "00004723" "30" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ser215Gly)" "" "0000266576" "00004723" "50" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "" "0000272885" "00004723" "50" "419" "0" "419" "0" "c.419C>A" "r.(?)" "p.(Thr140Asn)" "" "0000567453" "00004723" "30" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "" "0000567454" "00004723" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Met)" "" "0000567455" "00004723" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Cys119=)" "" "0000567456" "00004723" "50" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "" "0000567457" "00004723" "50" "419" "0" "419" "0" "c.419C>A" "r.(?)" "p.(Thr140Asn)" "" "0000567458" "00004723" "10" "499" "-14" "499" "-14" "c.499-14A>C" "r.(=)" "p.(=)" "" "0000681421" "00004723" "30" "4170" "0" "4170" "0" "c.*3489T>A" "r.(=)" "p.(=)" "" "0000727383" "00004723" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "" "0000735428" "00004723" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Met)" "" "0000808889" "00004723" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000926894" "00004723" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000951301" "00004723" "90" "233" "0" "234" "0" "c.233_234del" "r.(?)" "p.(Pro78Argfs*103)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000051490" "0000080543" "0000336243" "0000735428"