### 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" "00006" "2026-05-07 19:43:59" ## 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 = 7 "{{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" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "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 = 5 "{{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" "00478446" "" "" "" "1" "" "00006" "{PMID:Kruijt 2021:32978841}" "patient" "" "" "Netherlands" "" "0" "" "" "" "Pat47" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00172939" "00187" "00385773" "00139" "00433058" "05292" "00478446" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00829, 01157, 01273, 05292, 05973 ## Count = 5 "{{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" "0000362961" "01273" "00478446" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "XMEN" "rhabdomyolysis, hyperCKemia" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{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" "" "" "0000480093" "00478446" "1" "00006" "00006" "2026-05-07 19:40:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 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}}" "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" "" "0001076145" "0" "90" "X" "77112337" "77112337" "del" "0" "00006" "MAGT1_000037" "g.77112337del" "" "{PMID:Kruijt 2021:32978841}" "" "664delC" "" "Germline" "" "" "0" "" "" "g.77856840del" "" "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 MAGT1 ## Count = 50 "{{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)" "" "0001076145" "00001556" "90" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Met223CysfsTer40)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002029" "0000173822" "0000394061" "0000387001" "0000814852" "0000434489" "0000920339" "0000480093" "0001076145"