### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAGEA4) # 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}}" "MAGEA4" "melanoma antigen family A, 4" "X" "q28" "unknown" "NC_000023.10" "UD_132084485097" "" "https://www.LOVD.nl/MAGEA4" "" "1" "6802" "4103" "300175" "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." "" "g" "https://databases.lovd.nl/shared/refseq/MAGEA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2024-04-17 10:06:56" "00000" "2025-05-05 21:14:00" ## 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}}" "00025920" "MAGEA4" "transcript variant 1" "002" "NM_001011548.1" "" "NP_001011548.1" "" "" "MANE select" "-218" "1506" "954" "151081361" "151093642" "00006" "2024-04-17 10:06:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00173304" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173305" "" "" "" "102" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173437" "" "" "" "99" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173626" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173657" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00448813" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU106" "00448814" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU36" "00448815" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU8" "00448816" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU94" "00448817" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU27" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00173304" "00187" "00173305" "00187" "00173437" "00187" "00173626" "00187" "00173657" "00187" "00448813" "00198" "00448814" "00198" "00448815" "00198" "00448816" "00198" "00448817" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198 ## Count = 10 "{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000138168" "00187" "00173304" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138169" "00187" "00173305" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138301" "00187" "00173437" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138490" "00187" "00173626" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138521" "00187" "00173657" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000337988" "00198" "00448813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000337989" "00198" "00448814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000337990" "00198" "00448815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000337991" "00198" "00448816" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000337992" "00198" "00448817" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000174187" "00173304" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174188" "00173305" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174320" "00173437" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174509" "00173626" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174540" "00173657" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000450404" "00448813" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000450405" "00448814" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000450406" "00448815" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000450407" "00448816" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000450408" "00448817" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000174187" "MAGED2" "0000174188" "MAGED2" "0000174320" "WDR44" "0000174509" "NSDHL" "0000174540" "SLITRK2" ## 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 = 20 "{{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}}" "0000335914" "0" "50" "X" "151092935" "151092935" "subst" "8.97908E-5" "01804" "MAGEA4_000001" "g.151092935C>T" "" "" "" "MAGEA4(NM_001011548.1):c.799C>T (p.(Pro267Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151924463C>T" "" "VUS" "" "0000401143" "1" "30" "X" "151092784" "151092784" "subst" "0.0257892" "00124" "MAGEA4_000007" "g.151092784C>T" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S216S" "recurrent, found 9 times" "Germline" "" "" "0" "" "" "g.151924312C>T" "" "likely benign" "" "0000401144" "1" "30" "X" "151092220" "151092220" "subst" "0.481323" "00124" "MAGEA4_000004" "g.151092220A>G" "102/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A28A" "recurrent, found 102 times" "Germline" "" "" "0" "" "" "g.151923748A>G" "" "likely benign" "" "0000401145" "1" "50" "X" "151092653" "151092653" "subst" "0.505261" "00124" "MAGEA4_000006" "g.151092653G>A" "99/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A173T" "recurrent, found 99 times" "Germline" "" "" "0" "" "" "g.151924181G>A" "" "VUS" "" "0000401146" "1" "50" "X" "151092942" "151092942" "subst" "0.000151481" "00124" "MAGEA4_000008" "g.151092942G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R269H" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151924470G>A" "" "VUS" "" "0000401147" "1" "50" "X" "151092258" "151092258" "subst" "0.00249663" "00124" "MAGEA4_000005" "g.151092258C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S41F" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151923786C>T" "" "VUS" "" "0000574161" "0" "30" "X" "151092182" "151092182" "subst" "0.00033643" "01804" "MAGEA4_000009" "g.151092182G>A" "" "" "" "MAGEA4(NM_001011548.1):c.46G>A (p.(Val16Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151923710G>A" "" "likely benign" "" "0000574162" "0" "30" "X" "151092264" "151092264" "subst" "0.000555066" "01943" "MAGEA4_000010" "g.151092264C>G" "" "" "" "MAGEA4(NM_002362.4):c.128C>G (p.S43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151923792C>G" "" "likely benign" "" "0000574163" "0" "30" "X" "151092669" "151092669" "subst" "0.00241091" "01804" "MAGEA4_000011" "g.151092669C>T" "" "" "" "MAGEA4(NM_001011548.1):c.533C>T (p.(Thr178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151924197C>T" "" "likely benign" "" "0000574164" "0" "30" "X" "151092785" "151092785" "subst" "0.00011271" "01943" "MAGEA4_000012" "g.151092785G>A" "" "" "" "MAGEA4(NM_002362.4):c.649G>A (p.A217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151924313G>A" "" "likely benign" "" "0000682186" "0" "30" "X" "151092160" "151092160" "subst" "3.36428E-5" "01943" "MAGEA4_000013" "g.151092160G>A" "" "" "" "MAGEA4(NM_002362.4):c.24G>A (p.Q8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728533" "0" "50" "X" "151093088" "151093089" "del" "7.18147E-5" "01943" "MAGEA4_000003" "g.151093088_151093089del" "" "" "" "MAGEA4(NM_002362.4):c.952_953delTG (p.*318Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867140" "0" "50" "X" "151092181" "151092181" "subst" "0.000269187" "01943" "MAGEA4_000014" "g.151092181C>T" "" "" "" "MAGEA4(NM_002362.4):c.45C>T (p.G15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867141" "0" "30" "X" "151092496" "151092496" "subst" "0.000145497" "01943" "MAGEA4_000015" "g.151092496T>C" "" "" "" "MAGEA4(NM_002362.4):c.360T>C (p.F120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867142" "0" "50" "X" "151092819" "151092819" "subst" "0" "01943" "MAGEA4_000016" "g.151092819T>C" "" "" "" "MAGEA4(NM_002362.4):c.683T>C (p.V228A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972379" "0" "70" "X" "151092536" "151092536" "subst" "0.000279711" "00006" "MAGEA4_000017" "g.151092536G>A" "" "{PMID:Chen 2024:38621993}" "" "" "candidate disease gene; variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.151924064G>A" "" "likely pathogenic (dominant)" "" "0000972380" "0" "70" "X" "151092536" "151092536" "subst" "0.000279711" "00006" "MAGEA4_000017" "g.151092536G>A" "" "{PMID:Chen 2024:38621993}" "" "" "candidate disease gene; variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.151924064G>A" "" "likely pathogenic (dominant)" "" "0000972381" "0" "70" "X" "151092536" "151092536" "subst" "0.000279711" "00006" "MAGEA4_000017" "g.151092536G>A" "" "{PMID:Chen 2024:38621993}" "" "" "candidate disease gene; variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.151924064G>A" "" "likely pathogenic (dominant)" "" "0000972382" "0" "70" "X" "151092536" "151092536" "subst" "0.000279711" "00006" "MAGEA4_000017" "g.151092536G>A" "" "{PMID:Chen 2024:38621993}" "" "" "candidate disease gene; variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.151924064G>A" "" "likely pathogenic (dominant)" "" "0000972383" "0" "70" "X" "151092666" "151092666" "subst" "0" "00006" "MAGEA4_000018" "g.151092666A>T" "" "{PMID:Chen 2024:38621993}" "" "" "candidate disease gene; variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.151924194A>T" "" "likely pathogenic (dominant)" "" ## 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 MAGEA4 ## Count = 20 "{{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}}" "0000335914" "00025920" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Pro267Ser)" "3" "0000401143" "00025920" "30" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(=)" "3" "0000401144" "00025920" "30" "84" "0" "84" "0" "c.84A>G" "r.(?)" "p.(=)" "3" "0000401145" "00025920" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "3" "0000401146" "00025920" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269His)" "3" "0000401147" "00025920" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Ser41Phe)" "3" "0000574161" "00025920" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Val16Ile)" "3" "0000574162" "00025920" "30" "128" "0" "128" "0" "c.128C>G" "r.(?)" "p.(Ser43Cys)" "3" "0000574163" "00025920" "30" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Ile)" "3" "0000574164" "00025920" "30" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Ala217Thr)" "3" "0000682186" "00025920" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Gln8=)" "3" "0000728533" "00025920" "50" "952" "0" "953" "0" "c.952_953del" "r.(?)" "p.(Ter318SerextTer18)" "3" "0000867140" "00025920" "50" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Gly15=)" "3" "0000867141" "00025920" "30" "360" "0" "360" "0" "c.360T>C" "r.(?)" "p.(Phe120=)" "3" "0000867142" "00025920" "50" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Val228Ala)" "3" "0000972379" "00025920" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000972380" "00025920" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000972381" "00025920" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000972382" "00025920" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000972383" "00025920" "70" "530" "0" "530" "0" "c.530A>T" "r.(?)" "p.(Tyr177Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000174187" "0000401143" "0000174188" "0000401144" "0000174320" "0000401145" "0000174509" "0000401146" "0000174540" "0000401147" "0000450404" "0000972379" "0000450405" "0000972380" "0000450406" "0000972381" "0000450407" "0000972382" "0000450408" "0000972383"