### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAGT1) # 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}}" "MAGT1" "magnesium transporter 1" "X" "q21.1" "unknown" "NG_016390.1" "UD_132084520411" "" "https://www.LOVD.nl/MAGT1" "" "1" "28880" "84061" "300715" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2009-11-10 00:00:00" "00006" "2020-05-11 17:02:47" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001556" "MAGT1" "magnesium transporter 1" "001" "NM_032121.5" "" "NP_115497.4" "" "" "" "-62" "3960" "1104" "77081861" "77151065" "00000" "2012-09-13 13:39:41" "" "" "00025812" "MAGT1" "transcript variant 1" "000" "NM_001367916.1" "" "NP_001354845.1" "" "" "" "-25" "4481" "1008" "77150932" "77081244" "00006" "2023-02-21 16:22:03" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00829" "XMEN" "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN)" "XLR" "300853" "" "X-linked" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05973" "CDG1CC" "glycosylation, congenital disorder of, type Icc (CDG1CC)" "XLR" "301031" "" "" "" "00006" "2021-10-15 10:30:05" "00006" "2021-10-15 10:30:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MAGT1" "00139" "MAGT1" "00829" "MAGT1" "05973" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172939" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00385773" "" "" "" "2" "" "00006" "{PMID:Molinari 2008:18455129}" "2-generation family, 2 affected males, 2 mild affected females" "M" "" "Australia" "" "0" "" "" "" "Fam2PatIII5/6" "00433058" "" "" "" "2" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "3-generation family, 2 affected (boy/uncle-28.4), unaffected heterozygous carrier mother" "M" "" "Norway" "" "0" "" "" "" "Pat28,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00172939" "00187" "00385773" "00139" "00433058" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00829, 01157, 05292, 05973 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000137803" "00187" "00172939" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000279586" "00139" "00385773" "00006" "Familial, X-linked" "" "see paper; ..., intellectual disability, non-syndromic" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000323584" "05292" "00433058" "00006" "Familial, X-linked" "16y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000173822" "00172939" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000387001" "00385773" "1" "00006" "00006" "2021-10-15 10:11:38" "" "" "SEQ" "DNA" "" "" "0000434489" "00433058" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000173822" "SLC9A7" "0000387001" "XIAP" ## 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 = 43 "{{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}}" "0000002029" "0" "50" "X" "77110833" "77110833" "dup" "0" "00037" "MAGT1_000001" "g.77110833dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.77855336dup" "" "VUS" "" "0000249483" "0" "30" "X" "77086362" "77086362" "subst" "0.00157858" "02325" "MAGT1_000003" "g.77086362A>C" "" "" "" "MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77830865A>C" "" "likely benign" "" "0000286100" "0" "30" "X" "77126440" "77126440" "subst" "0.000106472" "02326" "MAGT1_000006" "g.77126440C>T" "" "" "" "MAGT1(NM_032121.5):c.369-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77870943C>T" "" "likely benign" "" "0000286101" "0" "90" "X" "77109397" "77109397" "subst" "0" "02326" "MAGT1_000004" "g.77109397C>T" "" "" "" "MAGT1(NM_032121.5):c.922+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77853900C>T" "" "pathogenic" "" "0000291394" "0" "30" "X" "77086343" "77086343" "subst" "0" "01943" "MAGT1_000002" "g.77086343C>A" "" "" "" "MAGT1(NM_032121.5):c.1047G>T (p.M349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77830846C>A" "" "likely benign" "" "0000291395" "0" "30" "X" "77130981" "77130981" "subst" "0" "01943" "MAGT1_000007" "g.77130981G>A" "" "" "" "MAGT1(NM_032121.5):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77875484G>A" "" "likely benign" "" "0000291396" "0" "50" "X" "77150939" "77150940" "del" "0" "01943" "MAGT1_000010" "g.77150939_77150940del" "" "" "" "MAGT1(NM_032121.5):c.65_66delAA (p.K22Sfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77895442_77895443del" "" "VUS" "" "0000291397" "0" "30" "X" "77150937" "77150937" "subst" "0.0006716" "01943" "MAGT1_000009" "g.77150937C>T" "" "" "" "MAGT1(NM_032121.5):c.67G>A (p.V23I, p.(Val23Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77895440C>T" "" "likely benign" "" "0000334728" "0" "50" "X" "77086362" "77086362" "subst" "0.00157858" "01804" "MAGT1_000003" "g.77086362A>C" "" "" "" "MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77830865A>C" "" "VUS" "" "0000334729" "0" "50" "X" "77112282" "77112282" "subst" "5.60378E-6" "01804" "MAGT1_000005" "g.77112282C>A" "" "" "" "MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77856785C>A" "" "VUS" "" "0000334730" "0" "50" "X" "77150892" "77150892" "subst" "0.00233146" "01804" "MAGT1_000008" "g.77150892G>A" "" "" "" "MAGT1(NM_032121.5):c.112C>T (p.R38W, p.(Arg38Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77895395G>A" "" "VUS" "" "0000334732" "0" "50" "X" "77150937" "77150937" "subst" "0.0006716" "01804" "MAGT1_000009" "g.77150937C>T" "" "" "" "MAGT1(NM_032121.5):c.67G>A (p.V23I, p.(Val23Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77895440C>T" "" "VUS" "" "0000334736" "0" "50" "X" "77155096" "77155096" "subst" "3.38669E-5" "01804" "COX7B_000002" "g.77155096C>T" "" "" "" "COX7B(NM_001866.2):c.40+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77899599C>T" "" "VUS" "" "0000348853" "0" "50" "X" "77150933" "77150933" "subst" "2.40408E-5" "02327" "MAGT1_000012" "g.77150933G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77895436G>C" "" "VUS" "" "0000394061" "1" "50" "X" "77096808" "77096808" "subst" "0" "00124" "MAGT1_000013" "g.77096808A>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V311G" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.77841311A>C" "" "VUS" "" "0000577520" "0" "50" "X" "77112282" "77112282" "subst" "5.60378E-6" "01943" "MAGT1_000005" "g.77112282C>A" "" "" "" "MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77856785C>A" "" "VUS" "" "0000577521" "0" "50" "X" "77112282" "77112282" "subst" "5.60378E-6" "02325" "MAGT1_000005" "g.77112282C>A" "" "" "" "MAGT1(NM_032121.5):c.716G>T (p.R239I, p.(Arg239Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77856785C>A" "" "VUS" "" "0000577523" "0" "90" "X" "77126363" "77126363" "dup" "0" "01943" "MAGT1_000015" "g.77126363dup" "" "" "" "MAGT1(NM_032121.5):c.429dupC (p.N144Qfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77870866dup" "" "pathogenic" "" "0000577524" "0" "50" "X" "77131012" "77131012" "subst" "5.60199E-6" "01943" "MAGT1_000016" "g.77131012C>T" "" "" "" "MAGT1(NM_001367916.1):c.185G>A (p.(Arg62His)), MAGT1(NM_032121.5):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77875515C>T" "" "VUS" "" "0000577525" "0" "30" "X" "77150868" "77150868" "subst" "0.000291263" "01943" "MAGT1_000017" "g.77150868T>C" "" "" "" "MAGT1(NM_032121.5):c.136A>G (p.M46V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77895371T>C" "" "likely benign" "" "0000577527" "0" "30" "X" "77150892" "77150892" "subst" "0.00233146" "01943" "MAGT1_000008" "g.77150892G>A" "" "" "" "MAGT1(NM_032121.5):c.112C>T (p.R38W, p.(Arg38Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77895395G>A" "" "likely benign" "" "0000577528" "0" "30" "X" "77150912" "77150912" "subst" "3.42789E-5" "01804" "MAGT1_000019" "g.77150912G>A" "" "" "" "MAGT1(NM_032121.5):c.92C>T (p.(Ala31Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77895415G>A" "" "likely benign" "" "0000577529" "0" "30" "X" "77150985" "77150985" "subst" "4.16098E-5" "01943" "MAGT1_000020" "g.77150985G>A" "" "" "" "MAGT1(NM_032121.5):c.19C>T (p.P7S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77895488G>A" "" "likely benign" "" "0000659455" "0" "50" "X" "77112291" "77112291" "subst" "5.59992E-6" "01943" "MAGT1_000021" "g.77112291T>C" "" "" "" "MAGT1(NM_001367916.1):c.611A>G (p.Y204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77856794T>C" "" "VUS" "" "0000682651" "0" "30" "X" "77126395" "77126395" "subst" "5.596E-6" "01943" "MAGT1_000022" "g.77126395C>T" "" "" "" "MAGT1(NM_032121.5):c.396G>A (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693750" "0" "30" "X" "77086362" "77086362" "subst" "0.00157858" "01943" "MAGT1_000003" "g.77086362A>C" "" "" "" "MAGT1(NM_032121.5):c.1028T>G (p.V343G, p.(Val343Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693751" "0" "50" "X" "77150973" "77150973" "subst" "0" "02325" "MAGT1_000023" "g.77150973A>C" "" "" "" "MAGT1(NM_032121.5):c.31T>G (p.F11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729209" "0" "50" "X" "77112882" "77112882" "subst" "2.79794E-5" "01943" "MAGT1_000024" "g.77112882C>T" "" "" "" "MAGT1(NM_032121.5):c.599G>A (p.R200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729210" "0" "30" "X" "77126427" "77126427" "subst" "5.03801E-5" "01943" "MAGT1_000025" "g.77126427A>G" "" "" "" "MAGT1(NM_001367916.1):c.273-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810677" "0" "30" "X" "77126356" "77126356" "subst" "0" "01943" "MAGT1_000026" "g.77126356C>T" "" "" "" "MAGT1(NM_001367916.1):c.339G>A (p.R113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814852" "21" "90" "X" "77096808" "77096808" "subst" "0" "00006" "MAGT1_000013" "g.77096808A>C" "" "{PMID:Molinari 2008:18455129}" "" "" "gene reported as IAP" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000856802" "0" "50" "X" "77112339" "77112339" "subst" "5.60771E-6" "01943" "MAGT1_000027" "g.77112339C>T" "" "" "" "MAGT1(NM_001367916.1):c.563G>A (p.G188D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856803" "0" "70" "X" "77112976" "77112976" "del" "0" "02329" "MAGT1_000028" "g.77112976del" "" "" "" "MAGT1(NM_001367916.1):c.410delC (p.P137Qfs*44)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856804" "0" "30" "X" "77155069" "77155069" "subst" "0" "01943" "MAGT1_000032" "g.77155069A>C" "" "" "" "COX7B(NM_001866.3):c.19A>C (p.S7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867570" "0" "30" "X" "77131104" "77131104" "subst" "0" "01943" "MAGT1_000029" "g.77131104A>G" "" "" "" "MAGT1(NM_032121.5):c.199-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867571" "0" "30" "X" "77150927" "77150927" "subst" "5.89543E-6" "01943" "MAGT1_000030" "g.77150927A>G" "" "" "" "MAGT1(NM_032121.5):c.77T>C (p.I26T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867572" "0" "30" "X" "77150983" "77150983" "subst" "0" "01943" "MAGT1_000031" "g.77150983C>A" "" "" "" "MAGT1(NM_032121.5):c.21G>T (p.P7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896372" "0" "50" "X" "77151001" "77151001" "subst" "7.9009E-5" "02325" "MAGT1_000011" "g.77151001C>T" "" "" "" "MAGT1(NM_032121.5):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920339" "21" "90" "X" "77096742" "77112995" "del" "0" "00006" "MAGT1_000033" "g.(?_77096742)_(77112995_?)del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "del ex4-8, hg19 (77096742-77112995)x0" "main disease-related variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000951798" "0" "30" "X" "77113006" "77113006" "subst" "2.91695E-5" "02326" "MAGT1_000034" "g.77113006C>T" "" "" "" "MAGT1(NM_032121.5):c.487-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006975" "0" "50" "X" "77131012" "77131012" "subst" "5.60199E-6" "01804" "MAGT1_000016" "g.77131012C>T" "" "" "" "MAGT1(NM_001367916.1):c.185G>A (p.(Arg62His)), MAGT1(NM_032121.5):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016061" "0" "30" "X" "77150908" "77150908" "subst" "6.81296E-5" "02325" "MAGT1_000035" "g.77150908G>A" "" "" "" "MAGT1(NM_032121.5):c.96C>T (p.N32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021234" "0" "50" "X" "77096790" "77096790" "subst" "0" "03779" "MAGT1_000036" "g.77096790A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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 MAGT1 ## Count = 49 "{{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}}" "0000002029" "00001556" "50" "858" "175" "858" "175" "c.858+175dup" "r.(=)" "p.(=)" "" "0000249483" "00001556" "30" "1028" "0" "1028" "0" "c.1028T>G" "r.(?)" "p.(Val343Gly)" "" "0000286100" "00001556" "30" "369" "-18" "369" "-18" "c.369-18G>A" "r.(=)" "p.(=)" "" "0000286101" "00001556" "90" "922" "1" "922" "1" "c.922+1G>A" "r.spl?" "p.?" "" "0000291394" "00001556" "30" "1047" "0" "1047" "0" "c.1047G>T" "r.(?)" "p.(Met349Ile)" "" "0000291395" "00001556" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(Tyr104=)" "" "0000291396" "00001556" "50" "65" "0" "66" "0" "c.65_66del" "r.(?)" "p.(Lys22SerfsTer49)" "" "0000291397" "00001556" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000334728" "00001556" "50" "1028" "0" "1028" "0" "c.1028T>G" "r.(?)" "p.(Val343Gly)" "" "0000334729" "00001556" "50" "716" "0" "716" "0" "c.716G>T" "r.(?)" "p.(Arg239Ile)" "" "0000334730" "00001556" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000334732" "00001556" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000334736" "00001556" "50" "-4093" "0" "-4093" "0" "c.-4093G>A" "r.(?)" "p.(=)" "" "0000348853" "00001556" "50" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Ser24Ter)" "" "0000394061" "00001556" "50" "932" "0" "932" "0" "c.932T>G" "r.(?)" "p.(Val311Gly)" "" "0000577520" "00001556" "50" "716" "0" "716" "0" "c.716G>T" "r.(?)" "p.(Arg239Ile)" "" "0000577521" "00001556" "50" "716" "0" "716" "0" "c.716G>T" "r.(?)" "p.(Arg239Ile)" "" "0000577523" "00001556" "90" "429" "0" "429" "0" "c.429dup" "r.(?)" "p.(Asn144GlnfsTer11)" "" "0000577524" "00001556" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000577525" "00001556" "30" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Met46Val)" "" "0000577527" "00001556" "30" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000577528" "00001556" "30" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "" "0000577529" "00001556" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Pro7Ser)" "" "0000659455" "00001556" "50" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Tyr236Cys)" "" "0000682651" "00001556" "30" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Leu132=)" "" "0000693750" "00001556" "30" "1028" "0" "1028" "0" "c.1028T>G" "r.(?)" "p.(Val343Gly)" "" "0000693751" "00001556" "50" "31" "0" "31" "0" "c.31T>G" "r.(?)" "p.(Phe11Val)" "" "0000729209" "00001556" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0000729210" "00001556" "30" "369" "-5" "369" "-5" "c.369-5T>C" "r.spl?" "p.?" "" "0000810677" "00001556" "30" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Arg145=)" "" "0000814852" "00001556" "90" "932" "0" "932" "0" "c.932T>G" "r.(?)" "p.(Val311Gly)" "" "0000856802" "00001556" "50" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Gly220Asp)" "" "0000856802" "00025812" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Gly188Asp)" "" "0000856803" "00001556" "70" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Pro169Glnfs*44)" "" "0000856803" "00025812" "70" "410" "0" "410" "0" "c.410del" "r.(?)" "p.(Pro137Glnfs*44)" "" "0000856804" "00001556" "30" "-4066" "0" "-4066" "0" "c.-4066T>G" "r.(?)" "p.(=)" "" "0000867570" "00001556" "30" "199" "-10" "199" "-10" "c.199-10T>C" "r.(=)" "p.(=)" "" "0000867570" "00025812" "30" "103" "-10" "103" "-10" "c.103-10T>C" "r.(=)" "p.(=)" "" "0000867571" "00001556" "30" "77" "0" "77" "0" "c.77T>C" "r.(?)" "p.(Ile26Thr)" "" "0000867571" "00025812" "30" "-20" "0" "-20" "0" "c.-20T>C" "r.(?)" "p.(=)" "" "0000867572" "00001556" "30" "21" "0" "21" "0" "c.21G>T" "r.(?)" "p.(Pro7=)" "" "0000896372" "00001556" "50" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000920339" "00001556" "90" "" "0" "" "0" "c.(?_c.487-1)_(997+1_?)del" "r.?" "p.?" "3i_8i" "0000951798" "00001556" "30" "487" "-12" "487" "-12" "c.487-12G>A" "r.(=)" "p.(=)" "" "0000951798" "00025812" "30" "391" "-12" "391" "-12" "c.391-12G>A" "r.(=)" "p.(=)" "" "0001006975" "00001556" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0001016061" "00001556" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Asn32=)" "" "0001016061" "00025812" "30" "-1" "0" "-1" "0" "c.-1C>T" "r.(?)" "p.(=)" "" "0001021234" "00025812" "50" "854" "0" "854" "0" "c.854T>G" "r.(?)" "p.(Leu285Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002029" "0000173822" "0000394061" "0000387001" "0000814852" "0000434489" "0000920339"