### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ZAP70)
# 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}}"
"ZAP70" "zeta-chain (TCR) associated protein kinase 70kDa" "2" "q11-q13" "unknown" "LRG_126" "UD_132119166226" "" "https://www.LOVD.nl/ZAP70" "ZAP70base " "1" "12858" "7535" "176947" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/ZAP70_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-12 19:32:23" "00006" "2024-01-23 18:13:56"
## 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}}"
"00023000" "ZAP70" "transcript variant 1" "001" "NM_001079.3" "" "NP_001070.2" "" "" "" "-207" "2222" "1860" "98330031" "98356323" "" "0000-00-00 00:00:00" "" ""
## 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"
"02069" "IMD48" "immunodeficiency, type 48 (IMD-48)" "AR" "269840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
"05177" "ADMIO2" "autoimmune disease, multisystem, infantile-onset, type 2 (ADMIO2)" "AR" "617006" "" "" "" "00002" "2016-09-09 09:38:03" "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"
"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}}"
"ZAP70" "02069"
"ZAP70" "05177"
## Individuals ## Do not remove or alter this header ##
## Count = 23
"{{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}}"
"00079970" "" "" "" "1" "" "01742" "{PMID:Chan 2016:26783323}" "" "M" "no" "(United States)" "" "0" "" "" "white" ""
"00080450" "" "" "" "1" "" "00002" "{PMID:Chan, A. C (1994):8202713} {PMID:Mazer, B (1997):9245543}" "Relative in ZAP70: Z0009 brother ZAP70: Z0010 sister" "M" "?" "" "" "0" "" "" "" ""
"00080451" "" "" "" "1" "" "00002" "{PMID:Noraz, N (2000):10748099}" "Relative in ZAP70base: Z0014: sibling" "" "?" "" "" "0" "" "" "" ""
"00080452" "" "" "" "1" "" "00002" "{PMID:Arpaia, E (1994):8124727} {PMID:Mazer, B (1997):9245543}" "Relative in ZAP70: Z0002 sister" "F" "?" "" "" "0" "" "" "" ""
"00080453" "" "" "" "1" "" "00002" "{PMID:Matsuda, S (1999):10574909}" "Relative in ZAP70: Z0007 sibling" "" "yes" "" "" "0" "" "" "" ""
"00080454" "" "" "" "1" "" "00002" "{PMID:Arpaia, E (1994):8124727} {PMID:Mazer, B (1997):9245543}" "Relative in ZAP70: Z0003 sister" "F" "?" "" "" "0" "" "" "" ""
"00080455" "" "" "" "1" "" "00002" "{PMID:Chan, A. C (1994):8202713} {PMID:Mazer, B (1997):9245543}" "Relative in ZAP70: Z0005 brother ZAP70: Z0009 brother" "F" "?" "" "" "0" "" "" "" ""
"00080456" "" "" "" "1" "" "00002" "{PMID:Arpaia, E (1994):8124727} {PMID:Mazer, B (1997):9245543}" "" "F" "?" "" "" "0" "" "" "" ""
"00080457" "" "" "" "1" "" "00002" "{PMID:Chan, A. C (1994):8202713} {PMID:Mazer, B (1997):9245543}" "Relative in ZAP70: Z0005 brother ZAP70: Z0010 sister" "M" "?" "" "" "0" "" "" "" ""
"00080458" "" "" "" "1" "" "00002" "{PMID:Meinl, E (2000):11034358}" "" "" "?" "" "" "0" "" "" "" ""
"00080459" "" "" "" "1" "" "00002" "{PMID:Matsuda, S (1999):10574909}" "Relative in ZAP70: Z0008 sibling" "" "yes" "" "" "0" "" "" "" ""
"00080460" "" "" "" "1" "" "00002" "{PMID:Matsuda, S (1999):10574909}" "" "" "?" "" "" "0" "" "" "" ""
"00080461" "" "" "" "1" "" "00002" "{PMID:Elder, M. E (2001):11123350}" "Parents are second degree cousins" "M" "?" "" "" "0" "" "" "Caucasoid" ""
"00080462" "" "" "" "1" "" "00002" "{PMID:Elder, M. E (1994):8202712} {PMID:Elder, M. E (1995):7671314} {PMID:Elder, M. E.(1996):8726223} {PMID:Mazer, B (1997):9245543}" "Parents are first cousins" "F" "?" "United States" "" "0" "" "" "Caucasoid" ""
"00080463" "" "" "" "1" "" "00002" "{PMID:Noraz, N (2000):10748099}" "Relative in ZAP70base: Z0013: sibling" "" "?" "" "" "0" "" "" "" ""
"00080464" "" "" "" "1" "" "00002" "{PMID:Turul, T (2009):18509675}" "Patient\'s male sibling died of LRTI at age 3 months." "F" "?" "Turkey" "" "0" "" "" "" ""
"00080465" "" "" "" "1" "" "00002" "{PMID:Turul, T (2009):18509675}" "Patient died of multiorgan failure." "F" "?" "Turkey" "" "0" "" "" "" ""
"00080466" "" "" "" "1" "" "00002" "{PMID:Turul, T (2009):18509675}" "" "F" "?" "Turkey" "" "0" "" "" "" ""
"00080731" "" "" "" "1" "" "00002" "{PMID:Chan 2016:26783323}" "" "F" "no" "(United States)" "" "0" "" "" "white" ""
"00104029" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-730A"
"00105824" "" "" "" "1" "" "00006" "{PMID:Gavino 2017:28216435}, {DOI:Gavino 2017:10.1016/j.jaci.2017.02.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sister" "M" "yes" "Canada" "" "0" "" "" "Coptic" "28216435-FamPat1"
"00334511" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00433057" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "United States" "" "0" "" "" "Hispanic;Latino" "Pat27,1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 23
"{{individualid}}" "{{diseaseid}}"
"00079970" "00198"
"00080450" "02069"
"00080451" "02069"
"00080452" "02069"
"00080453" "02069"
"00080454" "02069"
"00080455" "02069"
"00080456" "02069"
"00080457" "02069"
"00080458" "02069"
"00080459" "02069"
"00080460" "02069"
"00080461" "02069"
"00080462" "02069"
"00080463" "02069"
"00080464" "02069"
"00080465" "02069"
"00080466" "02069"
"00080731" "00198"
"00104029" "03381"
"00105824" "05292"
"00334511" "05793"
"00433057" "05292"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02069, 03381, 05177, 05292, 05793
## Count = 23
"{{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}}"
"0000060014" "02069" "00080450" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060015" "02069" "00080451" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060016" "02069" "00080452" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 3.6; B-lymphocyte antigen CD3 66; B-lymphocyte antigen CD4 55; B-lymphocyte antigen CD8 0" "" "" "" "" "" "" "" "" "" "" ""
"0000060017" "02069" "00080453" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060018" "02069" "00080454" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 4.3; Lymphocytes: Mitogens: 870 Anti-CD3: 900; B-lymphocyte antigen CD3 58; B-lymphocyte antigen CD4 57; B-lymphocyte antigen CD8 0" "" "" "" "" "" "" "" "" "" "" ""
"0000060019" "02069" "00080455" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060020" "02069" "00080456" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency; Total lymphocytes: 8.0; Lymphocytes: Mitogens: 408 Anti-CD3: 376; B-lymphocyte antigen CD3 55; B-lymphocyte antigen CD4 47; B-lymphocyte antigen CD8 8" "" "" "" "" "" "" "" "" "" "" ""
"0000060021" "02069" "00080457" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060022" "02069" "00080458" "00002" "Unknown" "0y07m" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Infections: P. Carinii pneumonia; Severe or disseminated varicella;; Total lymphocytes: 15-20; B-lymphocyte antigen CD3 1" "" "" "" "" "" "" "" "" "" "" ""
"0000060023" "02069" "00080459" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060024" "02069" "00080460" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060025" "02069" "00080461" "00002" "Unknown" "0y10m" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Infections: P. Carinii pneumonia;; Total lymphocytes: 8; Lymphocytes: Mitogens: absent Anti-CD3: 425; B-lymphocyte antigen CD4 37-40" "" "" "" "" "" "" "" "" "" "" ""
"0000060026" "02069" "00080462" "00002" "Unknown" "01y" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Failure to thrive;; Total lymphocytes: 10-20; Lymphocytes: Mitogens: 0 Soluble antigen: 101 Anti-CD3: 102; B-lymphocyte antigen CD4 75, B-lymphocyte antigen CD8 0-2" "" "" "" "" "" "" "" "" "" "" ""
"0000060027" "02069" "00080463" "00002" "Unknown" "" "Diagnosis: T-B- severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "" ""
"0000060028" "02069" "00080464" "00002" "Unknown" "0y05m" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent lower respiratory tract infections;" "" "" "" "" "" "" "" "" "" "" ""
"0000060029" "02069" "00080465" "00002" "Unknown" "0y13m" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent gastroenteritis; Lower respiratory tract infections; Oral moniliasis;" "" "" "" "" "" "" "" "" "" "" ""
"0000060030" "02069" "00080466" "00002" "Unknown" "0y11m" "Diagnosis: T-B- severe combined immunodeficiency; Symptoms: Recurrent pneumonia; Exfoliative dermatitis; Subcutaneous nodules; Oral moniliasis;" "" "" "" "" "" "" "" "" "" "" ""
"0000060304" "00198" "00079970" "00002" "Complex" "02y" "Novel constellation of early onset, severe autoimmune manifestations, including bullous pemphigoid" "00y09m" "" "" "" "" "" "" "" "" "" ""
"0000060308" "00198" "00080731" "00002" "Complex" "00y02m" "Novel constellation of early onset, severe autoimmune manifestations, including bullous pemphigoid" "" "" "" "" "" "" "" "" "" "" ""
"0000081963" "03381" "00104029" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000083720" "05292" "00105824" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., failure to thrive, adrenal insufficiency, infancy-inflammatory enterocolitis, 9m-recurrent respiratory tract infections, intermittent mucocutaneous candidiasis, recurrent herpes simplex virus stomatitis, 3x varicella-zoster virus infections, visible thymus, normal immunoglobulin isotypes with poor response to vaccines, persistent CD81 lymphocytopenia (0.01-0.03 total T-cells age-adjusted reference range); older brother died at 16m from suspected viral encephalitis" "" "" "" "" "" "" "" "" "" "" ""
"0000253215" "05793" "00334511" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000323583" "05292" "00433057" "00006" "Familial, autosomal recessive" "28y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 23
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000080049" "00079970" "1" "01742" "01742" "2016-08-29 15:13:28" "00002" "2016-09-09 11:32:20" "SEQ-NG" "DNA" "blood" ""
"0000080543" "00080450" "1" "00002" "00002" "1999-04-14 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080544" "00080451" "1" "00002" "00002" "2003-03-03 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080545" "00080452" "1" "00002" "00002" "1999-04-12 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080546" "00080453" "1" "00002" "00002" "2000-10-24 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080547" "00080454" "1" "00002" "00002" "1999-04-12 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080548" "00080455" "1" "00002" "00002" "1999-04-14 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080549" "00080456" "1" "00002" "00002" "1999-04-12 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080550" "00080457" "1" "00002" "00002" "1999-04-14 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080551" "00080458" "1" "00002" "00002" "2003-02-28 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080552" "00080459" "1" "00002" "00002" "2000-10-24 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080553" "00080460" "1" "00002" "00002" "2000-10-24 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080554" "00080461" "1" "00002" "00002" "2003-03-03 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080555" "00080462" "1" "00002" "00002" "1999-04-13 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080556" "00080463" "1" "00002" "00002" "2003-03-03 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080557" "00080464" "1" "00002" "00002" "2010-07-28 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080558" "00080465" "1" "00002" "00002" "2010-07-28 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080559" "00080466" "1" "00002" "00002" "2010-07-28 00:00:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080827" "00080731" "1" "00002" "00002" "2016-09-09 12:54:45" "" "" "SEQ-NG" "DNA" "blood" ""
"0000104500" "00104029" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000106295" "00105824" "1" "00006" "00006" "2017-06-24 18:17:33" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000335740" "00334511" "1" "04011" "04011" "2021-03-01 09:51:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000434488" "00433057" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}" "{{geneid}}"
"0000080049" "ZAP70"
"0000080543" "ZAP70"
"0000080544" "ZAP70"
"0000080545" "ZAP70"
"0000080546" "ZAP70"
"0000080547" "ZAP70"
"0000080548" "ZAP70"
"0000080549" "ZAP70"
"0000080550" "ZAP70"
"0000080551" "ZAP70"
"0000080552" "ZAP70"
"0000080553" "ZAP70"
"0000080554" "ZAP70"
"0000080555" "ZAP70"
"0000080556" "ZAP70"
"0000080557" "ZAP70"
"0000080558" "ZAP70"
"0000080559" "ZAP70"
"0000080827" "ZAP70"
"0000106295" "ZAP70"
## 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 = 82
"{{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}}"
"0000128925" "21" "77" "2" "98349356" "98349356" "subst" "1.21948E-5" "01742" "ZAP70_000001" "g.98349356C>T" "" "{PMID:Chan 2016:26783323}" "" "" "Compound heterozygous with c.1079G>C, p.Arg360Pro" "Germline" "?" "" "0" "" "" "g.97732893C>T" "" "likely pathogenic" ""
"0000129501" "0" "77" "2" "98354291" "98354291" "subst" "0" "00002" "ZAP70_000006" "g.98354291C>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737828C>A" "" "likely pathogenic" ""
"0000129502" "0" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129503" "3" "77" "2" "98354257" "98354257" "subst" "0" "00002" "ZAP70_000009" "g.98354257C>T" "" "{PMID:Noraz, N et al. (2000):10748099}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737794C>T" "" "likely pathogenic" ""
"0000129504" "3" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Arpaia, E et al. (1994):8124727} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129505" "3" "77" "2" "98354257" "98354257" "subst" "0" "00002" "ZAP70_000009" "g.98354257C>T" "" "{PMID:Matsuda, S et al. (1999):10574909}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737794C>T" "" "likely pathogenic" ""
"0000129506" "3" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Arpaia, E et al. (1994):8124727} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129507" "0" "77" "2" "98354291" "98354291" "subst" "0" "00002" "ZAP70_000006" "g.98354291C>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737828C>A" "" "likely pathogenic" ""
"0000129508" "0" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129509" "3" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Arpaia, E et al. (1994):8124727} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129510" "0" "77" "2" "98354291" "98354291" "subst" "0" "00002" "ZAP70_000006" "g.98354291C>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737828C>A" "" "likely pathogenic" ""
"0000129511" "0" "77" "2" "98354447" "98354447" "subst" "4.06805E-6" "00002" "ZAP70_000003" "g.98354447G>A" "" "{PMID:Chan, A. C et al. (1994):8202713} {PMID:Mazer, B et al. (1997):9245543}" "" "" "The mutation causes an altered splicing event, resulting in a 9 nt (cttgagcag) in the mRNA" "Unknown" "" "" "0" "" "" "g.97737984G>A" "" "likely pathogenic" ""
"0000129512" "3" "77" "2" "98354247" "98354259" "" "0" "00002" "ZAP70_000008" "g.98354247_98354259del" "" "{PMID:Meinl, E et al. (2000):11034358}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737784_97737796del" "" "likely pathogenic" ""
"0000129513" "3" "77" "2" "98354257" "98354257" "subst" "0" "00002" "ZAP70_000009" "g.98354257C>T" "" "{PMID:Matsuda, S et al. (1999):10574909}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737794C>T" "" "likely pathogenic" ""
"0000129514" "0" "77" "2" "98340738" "98340738" "subst" "0" "00002" "ZAP70_000011" "g.98340738C>A" "" "{PMID:Matsuda, S et al. (1999):10574909}" "" "" "" "Unknown" "" "" "0" "" "" "g.97724275C>A" "" "likely pathogenic" ""
"0000129515" "0" "77" "2" "98354548" "98354548" "subst" "0" "00002" "ZAP70_000005" "g.98354548A>T" "" "{PMID:Matsuda, S et al. (1999):10574909}" "" "" "" "Unknown" "" "" "0" "" "" "g.97738085A>T" "" "likely pathogenic" ""
"0000129516" "3" "77" "2" "98354039" "98354039" "subst" "8.12711E-6" "00002" "ZAP70_000007" "g.98354039C>T" "" "{PMID:Elder, M. E et al. (2001):11123350}" "" "1602C>T" "" "Unknown" "" "" "0" "" "" "g.97737576C>T" "" "likely pathogenic" ""
"0000129517" "3" "77" "2" "98354247" "98354259" "" "0" "00002" "ZAP70_000008" "g.98354247_98354259del" "" "{PMID:Elder, M. E et al. (1994):8202712} {PMID:Elder, M. E et al. (1995):7671314} {PMID:Elder, M. E.(1996):8726223} {PMID:Mazer, B et al. (1997):9245543}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737784_97737796del" "" "likely pathogenic" ""
"0000129518" "3" "77" "2" "98354257" "98354257" "subst" "0" "00002" "ZAP70_000009" "g.98354257C>T" "" "{PMID:Noraz, N et al. (2000):10748099}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737794C>T" "" "likely pathogenic" ""
"0000129519" "3" "77" "2" "98354257" "98354257" "subst" "0" "00002" "ZAP70_000009" "g.98354257C>T" "" "{PMID:Turul, T et al. (2009):18509675}" "" "" "" "Unknown" "" "" "0" "" "" "g.97737794C>T" "" "likely pathogenic" ""
"0000129520" "3" "77" "2" "98351103" "98351103" "subst" "0" "00002" "ZAP70_000010" "g.98351103T>G" "" "{PMID:Turul, T et al. (2009):18509675}" "" "" "" "Unknown" "" "" "0" "" "" "g.97734640T>G" "" "likely pathogenic" ""
"0000129521" "3" "77" "2" "98354524" "98354524" "subst" "0" "00002" "ZAP70_000004" "g.98354524T>C" "" "{PMID:Turul, T et al. (2009):18509675}" "" "" "" "Unknown" "" "" "0" "" "" "g.97738061T>C" "" "likely pathogenic" ""
"0000129875" "11" "77" "2" "98351172" "98351172" "subst" "0" "00002" "ZAP70_000002" "g.98351172G>C" "" "{PMID:Chan 2016:26783323}" "" "" "Compound heterozygous with c.574C>T, p.Arg192Trp" "Germline" "?" "" "0" "" "" "g.97734709G>C" "" "likely pathogenic" ""
"0000129877" "21" "77" "2" "98349356" "98349356" "subst" "1.21948E-5" "00002" "ZAP70_000001" "g.98349356C>T" "" "{PMID:Chan 2016:26783323}" "" "" "Compound heterozygous with c.1079G>C, p.Arg360Pro" "Germline" "?" "" "0" "" "" "g.97732893C>T" "" "likely pathogenic" ""
"0000129878" "11" "77" "2" "98351172" "98351172" "subst" "0" "00002" "ZAP70_000002" "g.98351172G>C" "" "{PMID:Chan 2016:26783323}" "" "" "Compound heterozygous with c.574C>T, p.Arg192Trp" "Germline" "?" "" "0" "" "" "g.97734709G>C" "" "likely pathogenic" ""
"0000169398" "0" "70" "2" "98341616" "98341616" "subst" "0.00237067" "00587" "ZAP70_000013" "g.98341616C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001079.3(ZAP70):c.464C>T p.(Thr155Met)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.97725153C>T" "" "likely pathogenic" ""
"0000171893" "3" "90" "2" "98351157" "98351175" "del" "0" "00006" "ZAP70_000012" "g.98351157_98351175del" "" "{PMID:Gavino 2017:28216435}, {DOI:Gavino 2017:10.1016/j.jaci.2017.02.002}" "" "NM_001079 c.1272C>T" "low level of normal splicing\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000315518" "0" "30" "2" "98351928" "98351928" "subst" "5.42173E-5" "02326" "ZAP70_000019" "g.98351928C>T" "" "" "" "ZAP70(NM_001079.3):c.1289+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97735465C>T" "" "likely benign" ""
"0000315519" "0" "30" "2" "98354490" "98354490" "subst" "0.000347444" "02326" "ZAP70_000022" "g.98354490C>T" "" "" "" "ZAP70(NM_001079.3):c.1656C>T (p.I552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97738027C>T" "" "likely benign" ""
"0000315520" "0" "10" "2" "98354511" "98354511" "subst" "0.275259" "02326" "ZAP70_000023" "g.98354511G>A" "" "" "" "ZAP70(NM_001079.3):c.1677G>A (p.E559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97738048G>A" "" "benign" ""
"0000315521" "0" "10" "2" "98341728" "98341728" "subst" "0.113585" "02326" "ZAP70_000014" "g.98341728C>G" "" "" "" "ZAP70(NM_001079.3):c.563+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97725265C>G" "" "benign" ""
"0000315522" "0" "30" "2" "98349748" "98349748" "subst" "3.78731E-5" "02326" "ZAP70_000015" "g.98349748C>T" "" "" "" "ZAP70(NM_001079.3):c.791-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97733285C>T" "" "likely benign" ""
"0000315523" "0" "50" "2" "98349804" "98349804" "subst" "2.64947E-5" "02326" "ZAP70_000017" "g.98349804C>T" "" "" "" "ZAP70(NM_001079.3):c.835C>T (p.H279Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97733341C>T" "" "VUS" ""
"0000320095" "0" "50" "2" "98351105" "98351105" "subst" "0.000580829" "01943" "ZAP70_000018" "g.98351105C>T" "" "" "" "ZAP70(NM_001079.3):c.1012C>T (p.L338F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97734642C>T" "" "VUS" ""
"0000320096" "0" "30" "2" "98353984" "98353984" "subst" "4.06227E-6" "01943" "ZAP70_000020" "g.98353984C>G" "" "" "" "ZAP70(NM_001079.3):c.1338C>G (p.S446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97737521C>G" "" "likely benign" ""
"0000320097" "0" "30" "2" "98341616" "98341616" "subst" "0.00237067" "01943" "ZAP70_000013" "g.98341616C>T" "" "" "" "ZAP70(NM_001079.3):c.464C>T (p.T155M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97725153C>T" "" "likely benign" ""
"0000320098" "0" "30" "2" "98349779" "98349779" "subst" "0.000613684" "01943" "ZAP70_000016" "g.98349779C>T" "" "" "" "ZAP70(NM_001079.3):c.810C>T (p.L270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97733316C>T" "" "likely benign" ""
"0000327181" "0" "50" "2" "98354347" "98354347" "subst" "0" "01804" "ZAP70_000021" "g.98354347A>G" "" "" "" "ZAP70(NM_001079.3):c.1610A>G (p.(Gln537Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97737884A>G" "" "VUS" ""
"0000349074" "0" "70" "2" "98354307" "98354307" "subst" "0" "02327" "ZAP70_000025" "g.98354307A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97737844A>T" "" "likely pathogenic" ""
"0000517214" "0" "30" "2" "98351074" "98351074" "subst" "0.000150265" "01943" "ZAP70_000026" "g.98351074C>G" "" "" "" "ZAP70(NM_001079.3):c.981C>G (p.D327E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97734611C>G" "" "likely benign" ""
"0000517215" "0" "30" "2" "98351183" "98351183" "subst" "0.000756965" "02326" "ZAP70_000027" "g.98351183C>T" "" "" "" "ZAP70(NM_001079.3):c.1082+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97734720C>T" "" "likely benign" ""
"0000517216" "0" "30" "2" "98351939" "98351939" "subst" "5.91251E-5" "02326" "ZAP70_000028" "g.98351939G>C" "" "" "" "ZAP70(NM_001079.3):c.1289+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97735476G>C" "" "likely benign" ""
"0000517217" "0" "30" "2" "98354113" "98354113" "subst" "0.000784413" "01943" "ZAP70_000029" "g.98354113C>T" "" "" "" "ZAP70(NM_001079.3):c.1467C>T (p.D489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97737650C>T" "" "likely benign" ""
"0000517218" "0" "30" "2" "98354113" "98354113" "subst" "0.000784413" "02326" "ZAP70_000029" "g.98354113C>T" "" "" "" "ZAP70(NM_001079.3):c.1467C>T (p.D489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97737650C>T" "" "likely benign" ""
"0000517219" "0" "10" "2" "98354139" "98354139" "subst" "0.307078" "02326" "ZAP70_000030" "g.98354139G>T" "" "" "" "ZAP70(NM_001079.3):c.1482+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97737676G>T" "" "benign" ""
"0000517220" "0" "30" "2" "98354472" "98354472" "subst" "0.000183531" "02326" "ZAP70_000031" "g.98354472G>A" "" "" "" "ZAP70(NM_001079.3):c.1638G>A (p.P546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97738009G>A" "" "likely benign" ""
"0000517221" "0" "30" "2" "98355946" "98355946" "subst" "4.13514E-6" "01943" "ZAP70_000032" "g.98355946G>A" "" "" "" "ZAP70(NM_001079.3):c.1845G>A (p.E615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97739483G>A" "" "likely benign" ""
"0000608165" "0" "30" "2" "98349463" "98349463" "subst" "5.27919E-5" "01943" "ZAP70_000033" "g.98349463C>T" "" "" "" "ZAP70(NM_001079.3):c.681C>T (p.T227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97733000C>T" "" "likely benign" ""
"0000608166" "0" "30" "2" "98349797" "98349797" "subst" "0.000171802" "01943" "ZAP70_000034" "g.98349797G>A" "" "" "" "ZAP70(NM_001079.3):c.828G>A (p.T276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97733334G>A" "" "likely benign" ""
"0000608167" "0" "30" "2" "98354490" "98354490" "subst" "0.000347444" "01943" "ZAP70_000022" "g.98354490C>T" "" "" "" "ZAP70(NM_001079.3):c.1656C>T (p.I552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97738027C>T" "" "likely benign" ""
"0000654744" "0" "50" "2" "98354069" "98354069" "subst" "4.06464E-6" "01943" "ZAP70_000035" "g.98354069G>A" "" "" "" "ZAP70(NM_001079.3):c.1423G>A (p.A475T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97737606G>A" "" "VUS" ""
"0000654745" "0" "30" "2" "98354472" "98354472" "subst" "0.000183531" "01943" "ZAP70_000031" "g.98354472G>A" "" "" "" "ZAP70(NM_001079.3):c.1638G>A (p.P546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97738009G>A" "" "likely benign" ""
"0000676747" "0" "50" "2" "98340791" "98340791" "subst" "0" "02325" "ZAP70_000036" "g.98340791C>A" "" "" "" "ZAP70(NM_001079.3):c.292C>A (p.L98M), ZAP70(NM_001079.4):c.292C>A (p.L98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000676748" "0" "30" "2" "98341626" "98341626" "subst" "0.000495935" "01943" "ZAP70_000037" "g.98341626C>T" "" "" "" "ZAP70(NM_001079.3):c.474C>T (p.H158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676749" "0" "30" "2" "98349376" "98349376" "subst" "8.93764E-5" "01943" "ZAP70_000038" "g.98349376C>T" "" "" "" "ZAP70(NM_001079.3):c.594C>T (p.Y198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688877" "0" "50" "2" "98340839" "98340839" "subst" "0" "02327" "ZAP70_000039" "g.98340839G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688878" "0" "30" "2" "98351032" "98351032" "subst" "0.00049157" "01943" "ZAP70_000040" "g.98351032C>G" "" "" "" "ZAP70(NM_001079.3):c.939C>G (p.S313R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688879" "0" "70" "2" "98351066" "98351066" "subst" "4.06141E-5" "02327" "ZAP70_000041" "g.98351066C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000688880" "0" "30" "2" "98354368" "98354368" "subst" "7.3119E-5" "02326" "ZAP70_000042" "g.98354368C>T" "" "" "" "ZAP70(NM_001079.3):c.1623+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000719095" "0" "50" "2" "98351822" "98351822" "subst" "4.06283E-6" "02325" "ZAP70_000043" "g.98351822A>G" "" "" "" "ZAP70(NM_001079.4):c.1192A>G (p.I398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719096" "0" "50" "2" "98355927" "98355927" "dup" "0" "02325" "ZAP70_000044" "g.98355927dup" "" "" "" "ZAP70(NM_001079.4):c.1826dupG (p.S610Qfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000734543" "0" "70" "2" "98340816" "98340816" "subst" "0" "04011" "ZAP70_000045" "g.98340816C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000800863" "0" "50" "2" "98350022" "98350022" "subst" "1.22034E-5" "01943" "ZAP70_000046" "g.98350022G>A" "" "" "" "ZAP70(NM_001079.3):c.853G>A (p.D285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000800864" "0" "30" "2" "98351725" "98351725" "subst" "0" "01943" "ZAP70_000047" "g.98351725C>T" "" "" "" "ZAP70(NM_001079.3):c.1095C>T (p.D365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850073" "0" "50" "2" "98354111" "98354111" "subst" "4.0653E-6" "01943" "ZAP70_000050" "g.98354111G>A" "" "" "" "ZAP70(NM_001079.3):c.1465G>A (p.D489N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000858727" "0" "30" "2" "98349687" "98349690" "dup" "0" "01943" "ZAP70_000048" "g.98349687_98349690dup" "" "" "" "ZAP70(NM_001079.3):c.790+11_790+14dupCAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858728" "0" "50" "2" "98351929" "98351929" "subst" "0.000212603" "01943" "ZAP70_000049" "g.98351929G>A" "" "" "" "ZAP70(NM_001079.3):c.1289+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000858729" "0" "30" "2" "98354342" "98354342" "subst" "0.000844828" "01943" "ZAP70_000051" "g.98354342C>T" "" "" "" "ZAP70(NM_001079.3):c.1605C>T (p.Y535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858730" "0" "50" "2" "98355835" "98355835" "subst" "0.000875823" "01943" "ZAP70_000052" "g.98355835C>T" "" "" "" "ZAP70(NM_001079.3):c.1737-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885442" "0" "30" "2" "98351081" "98351081" "subst" "5.68574E-5" "02326" "ZAP70_000053" "g.98351081C>T" "" "" "" "ZAP70(NM_001079.3):c.988C>T (p.L330F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885443" "0" "30" "2" "98353925" "98353925" "subst" "0.000163046" "02326" "ZAP70_000054" "g.98353925C>T" "" "" "" "ZAP70(NM_001079.3):c.1290-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885444" "0" "30" "2" "98354026" "98354026" "subst" "8.12526E-6" "02326" "ZAP70_000055" "g.98354026T>C" "" "" "" "ZAP70(NM_001079.3):c.1380T>C (p.R460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885445" "0" "90" "2" "98354447" "98354447" "subst" "4.06805E-6" "02327" "ZAP70_000003" "g.98354447G>A" "" "" "" "ZAP70(NM_001079.3):c.1624-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885446" "0" "90" "2" "98354447" "98354447" "subst" "4.06805E-6" "02326" "ZAP70_000003" "g.98354447G>A" "" "" "" "ZAP70(NM_001079.3):c.1624-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885447" "0" "30" "2" "98354479" "98354479" "subst" "0.00031406" "02326" "ZAP70_000056" "g.98354479A>G" "" "" "" "ZAP70(NM_001079.3):c.1645A>G (p.M549V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911788" "0" "50" "2" "98340791" "98340791" "subst" "0" "02326" "ZAP70_000036" "g.98340791C>A" "" "" "" "ZAP70(NM_001079.3):c.292C>A (p.L98M), ZAP70(NM_001079.4):c.292C>A (p.L98M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000920337" "21" "50" "2" "98354242" "98354242" "subst" "0" "00006" "ZAP70_000058" "g.98354242C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.97737779C>T" "" "VUS" "ACMG"
"0000920338" "11" "50" "2" "98349618" "98349618" "subst" "2.84662E-5" "00006" "ZAP70_000057" "g.98349618G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.97733155G>A" "" "VUS" "ACMG"
"0000923799" "0" "30" "2" "98341694" "98341694" "subst" "3.6667E-5" "02326" "ZAP70_000059" "g.98341694C>G" "" "" "" "ZAP70(NM_001079.3):c.542C>G (p.A181G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928667" "0" "10" "2" "98349454" "98349454" "subst" "0.00272101" "02326" "ZAP70_000060" "g.98349454C>T" "" "" "" "ZAP70(NM_001079.3):c.672C>T (p.P224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000928668" "0" "30" "2" "98350021" "98350021" "subst" "2.03366E-5" "02326" "ZAP70_000061" "g.98350021C>T" "" "" "" "ZAP70(NM_001079.3):c.852C>T (p.I284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928669" "0" "30" "2" "98351750" "98351750" "subst" "4.06822E-6" "02326" "ZAP70_000062" "g.98351750G>A" "" "" "" "ZAP70(NM_001079.3):c.1120G>A (p.G374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ZAP70
## Count = 82
"{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}"
"0000128925" "00023000" "77" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Trp)" "5" "C-SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129501" "00023000" "77" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Ser518Arg)" "12" "TK" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129502" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129503" "00023000" "77" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ala507Val)" "12" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129504" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129505" "00023000" "77" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ala507Val)" "12" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129506" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129507" "00023000" "77" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Ser518Arg)" "12" "TK" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129508" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129509" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129510" "00023000" "77" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Ser518Arg)" "12" "TK" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129511" "00023000" "77" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(Lys541_Lys542insLeuGluGln)" "12i" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "sequence retaining amino acid insertion (VariO:0020)" "" "" "" ""
"0000129512" "00023000" "77" "1510" "0" "1522" "0" "c.1510_1522del" "r.(?)" "p.(Lys504Profs*36)" "12" "TK" "DNA deletion (VariO:0141)" "amphigoric amino acid indel (VariO:0023)" "" "" "" ""
"0000129513" "00023000" "77" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ala507Val)" "12" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129514" "00023000" "77" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Pro80Gln)" "3" "SH2_1" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129515" "00023000" "77" "1714" "0" "1714" "0" "c.1714A>T" "r.(?)" "p.(Met572Leu)" "13" "TK" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129516" "00023000" "77" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Cys)" "10" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129517" "00023000" "77" "1510" "0" "1522" "0" "c.1510_1522del" "r.(?)" "p.(Lys504Profs*36)" "12" "TK" "DNA deletion (VariO:0141)" "amphigoric amino acid indel (VariO:0023)" "" "" "" ""
"0000129518" "00023000" "77" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ala507Val)" "12" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129519" "00023000" "77" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ala507Val)" "12" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129520" "00023000" "77" "1010" "0" "1010" "0" "c.1010T>G" "r.(?)" "p.(Leu337Arg)" "9" "" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129521" "00023000" "77" "1690" "0" "1690" "0" "c.1690T>C" "r.(?)" "p.(Cys564Arg)" "13" "TK" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129875" "00023000" "77" "1079" "0" "1079" "0" "c.1079G>C" "r.(?)" "p.(Arg360Pro)" "9" "kinase" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129877" "00023000" "77" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Trp)" "5" "C-SH2" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000129878" "00023000" "77" "1079" "0" "1079" "0" "c.1079G>C" "r.(?)" "p.(Arg360Pro)" "9" "kinase" "transversion (VariO:0316)" "amino acid substitution (VariO:0021)" "" "" "" ""
"0000169398" "00023000" "00" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Thr155Met)" "" "" "" "" "" "" "" ""
"0000171893" "00023000" "90" "1065" "0" "1065" "0" "c.1065C>T" "r.[1064_1082del,=]" "p.[Val356Serfs*10,=]" "9" "" "" "" "" "" "" ""
"0000315518" "00023000" "30" "1289" "9" "1289" "9" "c.1289+9C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000315519" "00023000" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Ile552=)" "" "" "" "" "" "" "" ""
"0000315520" "00023000" "10" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Glu559=)" "" "" "" "" "" "" "" ""
"0000315521" "00023000" "10" "563" "13" "563" "13" "c.563+13C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000315522" "00023000" "30" "791" "-12" "791" "-12" "c.791-12C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000315523" "00023000" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(His279Tyr)" "" "" "" "" "" "" "" ""
"0000320095" "00023000" "50" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Leu338Phe)" "" "" "" "" "" "" "" ""
"0000320096" "00023000" "30" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Ser446=)" "" "" "" "" "" "" "" ""
"0000320097" "00023000" "30" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Thr155Met)" "" "" "" "" "" "" "" ""
"0000320098" "00023000" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Leu270=)" "" "" "" "" "" "" "" ""
"0000327181" "00023000" "50" "1610" "0" "1610" "0" "c.1610A>G" "r.(?)" "p.(Gln537Arg)" "" "" "" "" "" "" "" ""
"0000349074" "00023000" "70" "1570" "0" "1570" "0" "c.1570A>T" "r.(?)" "p.(Ser524Cys)" "" "" "" "" "" "" "" ""
"0000517214" "00023000" "30" "981" "0" "981" "0" "c.981C>G" "r.(?)" "p.(Asp327Glu)" "" "" "" "" "" "" "" ""
"0000517215" "00023000" "30" "1082" "8" "1082" "8" "c.1082+8C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000517216" "00023000" "30" "1289" "20" "1289" "20" "c.1289+20G>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000517217" "00023000" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Asp489=)" "" "" "" "" "" "" "" ""
"0000517218" "00023000" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Asp489=)" "" "" "" "" "" "" "" ""
"0000517219" "00023000" "10" "1482" "11" "1482" "11" "c.1482+11G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000517220" "00023000" "30" "1638" "0" "1638" "0" "c.1638G>A" "r.(?)" "p.(Pro546=)" "" "" "" "" "" "" "" ""
"0000517221" "00023000" "30" "1845" "0" "1845" "0" "c.1845G>A" "r.(?)" "p.(Glu615=)" "" "" "" "" "" "" "" ""
"0000608165" "00023000" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Thr227=)" "" "" "" "" "" "" "" ""
"0000608166" "00023000" "30" "828" "0" "828" "0" "c.828G>A" "r.(?)" "p.(Thr276=)" "" "" "" "" "" "" "" ""
"0000608167" "00023000" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Ile552=)" "" "" "" "" "" "" "" ""
"0000654744" "00023000" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Ala475Thr)" "" "" "" "" "" "" "" ""
"0000654745" "00023000" "30" "1638" "0" "1638" "0" "c.1638G>A" "r.(?)" "p.(Pro546=)" "" "" "" "" "" "" "" ""
"0000676747" "00023000" "50" "292" "0" "292" "0" "c.292C>A" "r.(?)" "p.(Leu98Met)" "" "" "" "" "" "" "" ""
"0000676748" "00023000" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(His158=)" "" "" "" "" "" "" "" ""
"0000676749" "00023000" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Tyr198=)" "" "" "" "" "" "" "" ""
"0000688877" "00023000" "50" "340" "0" "340" "0" "c.340G>T" "r.(?)" "p.(Val114Phe)" "" "" "" "" "" "" "" ""
"0000688878" "00023000" "30" "939" "0" "939" "0" "c.939C>G" "r.(?)" "p.(Ser313Arg)" "" "" "" "" "" "" "" ""
"0000688879" "00023000" "70" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Leu325Phe)" "" "" "" "" "" "" "" ""
"0000688880" "00023000" "30" "1623" "8" "1623" "8" "c.1623+8C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000719095" "00023000" "50" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Ile398Val)" "" "" "" "" "" "" "" ""
"0000719096" "00023000" "50" "1826" "0" "1826" "0" "c.1826dup" "r.(?)" "p.(Ser610Glnfs*6)" "" "" "" "" "" "" "" ""
"0000734543" "00023000" "50" "317" "0" "317" "0" "c.317C>G" "r.(?)" "p.(Ser106Trp)" "" "" "" "" "" "" "" ""
"0000800863" "00023000" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Asp285Asn)" "" "" "" "" "" "" "" ""
"0000800864" "00023000" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Asp365=)" "" "" "" "" "" "" "" ""
"0000850073" "00023000" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Asp489Asn)" "" "" "" "" "" "" "" ""
"0000858727" "00023000" "30" "790" "12" "790" "15" "c.790+12_790+15dup" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000858728" "00023000" "50" "1289" "10" "1289" "10" "c.1289+10G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000858729" "00023000" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Tyr535=)" "" "" "" "" "" "" "" ""
"0000858730" "00023000" "50" "1737" "-3" "1737" "-3" "c.1737-3C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000885442" "00023000" "30" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Leu330Phe)" "" "" "" "" "" "" "" ""
"0000885443" "00023000" "30" "1290" "-11" "1290" "-11" "c.1290-11C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000885444" "00023000" "30" "1380" "0" "1380" "0" "c.1380T>C" "r.(?)" "p.(Arg460=)" "" "" "" "" "" "" "" ""
"0000885445" "00023000" "90" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000885446" "00023000" "90" "1624" "-11" "1624" "-11" "c.1624-11G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000885447" "00023000" "30" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Met549Val)" "" "" "" "" "" "" "" ""
"0000911788" "00023000" "50" "292" "0" "292" "0" "c.292C>A" "r.(?)" "p.(Leu98Met)" "" "" "" "" "" "" "" ""
"0000920337" "00023000" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "12" "" "" "" "" "" "" ""
"0000920338" "00023000" "50" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Gly245Arg)" "6" "" "" "" "" "" "" ""
"0000923799" "00023000" "30" "542" "0" "542" "0" "c.542C>G" "r.(?)" "p.(Ala181Gly)" "" "" "" "" "" "" "" ""
"0000928667" "00023000" "10" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" ""
"0000928668" "00023000" "30" "852" "0" "852" "0" "c.852C>T" "r.(?)" "p.(=)" "" "" "" "" "" "" "" ""
"0000928669" "00023000" "30" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Gly374Ser)" "" "" "" "" "" "" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 30
"{{screeningid}}" "{{variantid}}"
"0000080049" "0000128925"
"0000080049" "0000129875"
"0000080543" "0000129501"
"0000080543" "0000129502"
"0000080544" "0000129503"
"0000080545" "0000129504"
"0000080546" "0000129505"
"0000080547" "0000129506"
"0000080548" "0000129507"
"0000080548" "0000129508"
"0000080549" "0000129509"
"0000080550" "0000129510"
"0000080550" "0000129511"
"0000080551" "0000129512"
"0000080552" "0000129513"
"0000080553" "0000129514"
"0000080553" "0000129515"
"0000080554" "0000129516"
"0000080555" "0000129517"
"0000080556" "0000129518"
"0000080557" "0000129519"
"0000080558" "0000129520"
"0000080559" "0000129521"
"0000080827" "0000129877"
"0000080827" "0000129878"
"0000104500" "0000169398"
"0000106295" "0000171893"
"0000335740" "0000734543"
"0000434488" "0000920337"
"0000434488" "0000920338"