### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAGED2) # 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}}" "MAGED2" "melanoma antigen family D, 2" "X" "p11.2" "unknown" "NG_012844.1" "UD_132085315801" "" "https://www.LOVD.nl/MAGED2" "" "1" "16353" "10916" "300470" "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/MAGED2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-02-17 16:56:20" "00000" "2023-01-11 15:44:22" ## 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}}" "00000532" "MAGED2" "transcript variant 1" "002" "NM_014599.4" "" "NP_055414.2" "" "" "" "-99" "1961" "1821" "54834797" "54842445" "00000" "2012-09-13 12:28:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05696" "BARTS" "Bartter syndrome (BARTS)" "" "" "" "" "" "00006" "2020-02-17 16:46:18" "00006" "2021-12-10 21:51:32" "05697" "BARTS5" "Bartter syndrome, type 5, antenatal, transient (BARTS5)" "XLR" "300971" "" "" "" "00006" "2020-02-17 16:55:00" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MAGED2" "05696" "MAGED2" "05697" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00173306" "" "" "" "27" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173307" "" "" "" "68" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173308" "" "" "" "68" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173309" "" "" "" "48" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173310" "" "" "" "68" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00288242" "" "" "" "3" "" "00006" "{PMID:Laghmani 2015:27120771}" "3-generation family, 3 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "Fam1PatII1" "00288243" "" "" "00288242" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "PatII4" "M" "" "" "" "0" "" "" "" "Fam1PatII4" "00288244" "" "" "00288242" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "PatIII1" "M" "" "" "" "0" "" "" "" "Fam1PatIII1" "00288245" "" "" "" "2" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam2PatII1" "00288247" "" "" "" "3" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam3PatII1" "00288248" "" "" "00288247" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "PatII2" "M" "" "" "" "0" "" "" "" "Fam3PatII2" "00288249" "" "" "00288247" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "PatII3" "M" "" "" "" "0" "" "" "" "Fam3PatII3" "00288250" "" "" "" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam4PatII1" "00288251" "" "" "" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam5PatII1" "00288252" "" "" "" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Fam6PatII1" "00288253" "" "" "" "2" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam7PatII1" "00288254" "" "" "00288253" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "PatII2" "M" "" "" "" "0" "" "" "" "Fam7PatII2" "00288255" "" "" "" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam8PatII1" "00288256" "" "" "" "1" "" "00006" "{PMID:Laghmani 2015:27120771}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam9PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173306" "00187" "00173307" "00187" "00173308" "00187" "00173309" "00187" "00173310" "00187" "00288242" "05696" "00288243" "05696" "00288244" "05696" "00288245" "05696" "00288247" "05696" "00288248" "05696" "00288249" "05696" "00288250" "05696" "00288251" "05696" "00288252" "05696" "00288253" "05696" "00288254" "05696" "00288255" "00198" "00288256" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 05696, 05697 ## Count = 21 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000138170" "00187" "00173306" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138171" "00187" "00173307" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138172" "00187" "00173308" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138173" "00187" "00173309" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138174" "00187" "00173310" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000221980" "05696" "00288242" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; gestational age at delivery 22w; no neonatal survival" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221981" "05696" "00288243" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 51cm; gestational age at delivery 27w; neonatal survival; polyuria 5w; nephrocalcinosis; indometacin 1y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221982" "05696" "00288244" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 98cm; gestational age at delivery 31w; neonatal survival; polyuria 1w; nephrocalcinosis; no indometacin" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221983" "05696" "00288245" "00006" "Familial, X-linked recessive" "" "polyhydramnios; gestational age at delivery 25w; no neonatal survival;" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221985" "05696" "00288247" "00006" "Familial, X-linked recessive" "" "polyhydramnios; gestational age at delivery 34w; neonatal survival; no polyuria; no indometacin" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221986" "05696" "00288248" "00006" "Familial, X-linked recessive" "" "polyhydramnios; gestational age at delivery 33w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 9y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221987" "05696" "00288249" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 72cm; gestational age at delivery 31w; neonatal survival; polyuria; no nephrocalcinosis; indometacin 3y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221988" "05696" "00288250" "00006" "Familial, X-linked recessive" "" "20w-onset polyhydramnios; gestational age at delivery 24w; neonatal survival; polyuria 6w; nephrocalcinosis; indometacin 1y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221989" "05696" "00288251" "00006" "Familial, X-linked recessive" "" "20w-onset polyhydramnios; gestational age at delivery 26w; neonatal survival; polyuria 4w; nephrocalcinosis; no indometacin" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221990" "05696" "00288252" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 40cm; gestational age at delivery 27w; neonatal survival; polyuria 4w; nephrocalcinosis; indometacin 1.2y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221991" "05696" "00288253" "00006" "Familial, X-linked recessive" "" "polyhydramnios; gestational age at delivery 30w; no neonatal survival;" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221992" "05696" "00288254" "00006" "Familial, X-linked recessive" "" "polyhydramnios; gestational age at delivery 29w; neonatal survival; polyuria 1w; nephrocalcinosis; indometacin 2.8y" "" "" "" "" "" "" "" "" "" "BARTS5" "polyhydramnios" "" "0000221993" "00198" "00288255" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 36cm; gestational age at delivery 22w; no neonatal survival;" "" "" "" "" "" "" "" "" "" "" "polyhydramnios" "" "0000221994" "00198" "00288256" "00006" "Familial, X-linked recessive" "" "19w-onset polyhydramnios; amniotic fluid index 36cm; gestational age at delivery 29w; neonatal survival; no polyuia; no nephrocalcinosis; no indometacin" "" "" "" "" "" "" "" "" "" "" "polyhydramnios" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{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" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000174189" "00173306" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174190" "00173307" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174191" "00173308" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174192" "00173309" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174193" "00173310" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000289411" "00288242" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289412" "00288243" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289413" "00288244" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289414" "00288245" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289416" "00288247" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289417" "00288248" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289418" "00288249" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289419" "00288250" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289420" "00288251" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289421" "00288252" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289422" "00288253" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289423" "00288254" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289424" "00288255" "1" "00006" "00006" "2020-02-17 21:28:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000289425" "00288256" "1" "00006" "00006" "2020-02-17 21:28:34" "00006" "2020-02-17 21:36:19" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000174189" "MAP7D2" "0000174190" "MAP7D2" "0000174191" "MAP7D2" "0000174192" "MCF2" "0000174193" "MCF2" "0000289411" "MAGED2" "0000289412" "MAGED2" "0000289413" "MAGED2" "0000289414" "MAGED2" "0000289416" "MAGED2" "0000289417" "MAGED2" "0000289418" "MAGED2" "0000289419" "MAGED2" "0000289420" "MAGED2" "0000289421" "MAGED2" "0000289422" "MAGED2" "0000289423" "MAGED2" "0000289424" "MAGED2" "0000289425" "MAGED2" ## 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 = 55 "{{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}}" "0000006950" "20" "50" "X" "54834957" "54834957" "subst" "0" "00037" "MAGED2_000001" "g.54834957A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54808524A>C" "" "VUS" "" "0000006951" "20" "50" "X" "54836361" "54836361" "subst" "0.365938" "00037" "MAGED2_000004" "g.54836361A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54809928A>G" "" "VUS" "" "0000006952" "20" "50" "X" "54836505" "54836505" "subst" "0.397913" "00037" "MAGED2_000007" "g.54836505A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54810072A>G" "" "VUS" "" "0000006953" "20" "50" "X" "54837340" "54837340" "subst" "0.385041" "00037" "MAGED2_000010" "g.54837340C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54810907C>T" "" "VUS" "" "0000006954" "20" "50" "X" "54838077" "54838077" "subst" "0.375123" "00037" "MAGED2_000027" "g.54838077C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54811644C>T" "" "VUS" "" "0000006955" "20" "50" "X" "54838352" "54838352" "subst" "0" "00037" "MAGED2_000017" "g.54838352C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54811919C>A" "" "VUS" "" "0000006956" "20" "50" "X" "54838437" "54838437" "subst" "0" "00037" "MAGED2_000020" "g.54838437G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54812004G>A" "" "VUS" "" "0000006957" "20" "50" "X" "54840013" "54840013" "subst" "0.387329" "00037" "MAGED2_000023" "g.54840013C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54813580C>T" "" "VUS" "" "0000006958" "20" "50" "X" "54841457" "54841457" "subst" "0" "00037" "MAGED2_000012" "g.54841457G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54815024G>A" "" "VUS" "" "0000006959" "20" "50" "X" "54841737" "54841737" "subst" "0.105001" "00037" "MAGED2_000015" "g.54841737G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54815304G>A" "" "VUS" "" "0000009035" "20" "50" "X" "54834957" "54834957" "subst" "0" "00037" "MAGED2_000001" "g.54834957A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54808524A>C" "" "VUS" "" "0000009036" "20" "50" "X" "54836361" "54836361" "subst" "0.365938" "00037" "MAGED2_000004" "g.54836361A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54809928A>G" "" "VUS" "" "0000009037" "20" "50" "X" "54836505" "54836505" "subst" "0.397913" "00037" "MAGED2_000007" "g.54836505A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54810072A>G" "" "VUS" "" "0000009038" "20" "50" "X" "54837340" "54837340" "subst" "0.385041" "00037" "MAGED2_000010" "g.54837340C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54810907C>T" "" "VUS" "" "0000009039" "20" "50" "X" "54838077" "54838077" "subst" "0.375123" "00037" "MAGED2_000027" "g.54838077C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54811644C>T" "" "VUS" "" "0000009040" "20" "50" "X" "54838352" "54838352" "subst" "0" "00037" "MAGED2_000017" "g.54838352C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54811919C>A" "" "VUS" "" "0000009041" "20" "50" "X" "54838437" "54838437" "subst" "0" "00037" "MAGED2_000020" "g.54838437G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54812004G>A" "" "VUS" "" "0000009042" "20" "50" "X" "54840013" "54840013" "subst" "0.387329" "00037" "MAGED2_000023" "g.54840013C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54813580C>T" "" "VUS" "" "0000009043" "20" "50" "X" "54841457" "54841457" "subst" "0" "00037" "MAGED2_000012" "g.54841457G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54815024G>A" "" "VUS" "" "0000014926" "20" "50" "X" "54841737" "54841737" "subst" "0.105001" "00037" "MAGED2_000015" "g.54841737G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.54815304G>A" "" "VUS" "" "0000291354" "0" "50" "X" "54837723" "54837723" "subst" "0.000341243" "01943" "MAGED2_000029" "g.54837723C>T" "" "" "" "MAGED2(NM_014599.5):c.887C>T (p.(Thr296Met)), MAGED2(NM_177433.2):c.887C>T (p.T296M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54811290C>T" "" "VUS" "" "0000334310" "0" "30" "X" "54836239" "54836239" "subst" "0.00316311" "01804" "MAGED2_000028" "g.54836239A>G" "" "" "" "MAGED2(NM_014599.5):c.130A>G (p.(Lys44Glu)), MAGED2(NM_177433.3):c.130A>G (p.K44E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54809806A>G" "" "likely benign" "" "0000334313" "0" "50" "X" "54841964" "54841964" "subst" "0.0000216907" "01804" "MAGED2_000032" "g.54841964A>G" "" "" "" "MAGED2(NM_014599.5):c.1670A>G (p.(Asn557Ser)), MAGED2(NM_177433.3):c.1670A>G (p.N557S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54815531A>G" "" "VUS" "" "0000334314" "0" "30" "X" "54842023" "54842023" "subst" "0.00040157" "01804" "MAGED2_000033" "g.54842023G>A" "" "" "" "MAGED2(NM_014599.5):c.1729G>A (p.(Ala577Thr)), MAGED2(NM_177433.2):c.1729G>A (p.A577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54815590G>A" "" "likely benign" "" "0000401157" "1" "30" "X" "54841737" "54841737" "subst" "0.105001" "00124" "MAGED2_000015" "g.54841737G>A" "27/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A481A" "recurrent, found 27 times" "Germline" "" "" "0" "" "" "g.54815304G>A" "" "likely benign" "" "0000401158" "1" "30" "X" "54836361" "54836361" "subst" "0.365938" "00124" "MAGED2_000004" "g.54836361A>G" "68/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S84S" "recurrent, found 68 times" "Germline" "" "" "0" "" "" "g.54809928A>G" "" "likely benign" "" "0000401159" "1" "30" "X" "54836505" "54836505" "subst" "0.397913" "00124" "MAGED2_000007" "g.54836505A>G" "68/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T132T" "recurrent, found 68 times" "Germline" "" "" "0" "" "" "g.54810072A>G" "" "likely benign" "" "0000401160" "1" "30" "X" "54837340" "54837340" "subst" "0.385041" "00124" "MAGED2_000010" "g.54837340C>T" "48/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A208A" "recurrent, found 48 times" "Germline" "" "" "0" "" "" "g.54810907C>T" "" "likely benign" "" "0000401161" "1" "30" "X" "54838077" "54838077" "subst" "0.375123" "00124" "MAGED2_000027" "g.54838077C>T" "68/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S327S" "recurrent, found 68 times" "Germline" "" "" "0" "" "" "g.54811644C>T" "" "likely benign" "" "0000576750" "0" "50" "X" "54835733" "54835733" "subst" "0.00014639" "01943" "MAGED2_000034" "g.54835733C>A" "" "" "" "MAGED2(NM_014599.5):c.-29-3C>A (p.(=)), MAGED2(NM_177433.2):c.-29-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54809300C>A" "" "VUS" "" "0000576751" "0" "30" "X" "54835733" "54835733" "subst" "0.00014639" "01804" "MAGED2_000034" "g.54835733C>A" "" "" "" "MAGED2(NM_014599.5):c.-29-3C>A (p.(=)), MAGED2(NM_177433.2):c.-29-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54809300C>A" "" "likely benign" "" "0000576753" "0" "30" "X" "54837723" "54837723" "subst" "0.000341243" "01804" "MAGED2_000029" "g.54837723C>T" "" "" "" "MAGED2(NM_014599.5):c.887C>T (p.(Thr296Met)), MAGED2(NM_177433.2):c.887C>T (p.T296M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54811290C>T" "" "likely benign" "" "0000576754" "0" "30" "X" "54842023" "54842023" "subst" "0.00040157" "01943" "MAGED2_000033" "g.54842023G>A" "" "" "" "MAGED2(NM_014599.5):c.1729G>A (p.(Ala577Thr)), MAGED2(NM_177433.2):c.1729G>A (p.A577T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54815590G>A" "" "likely benign" "" "0000619731" "0" "30" "X" "54836484" "54836484" "subst" "0.0000174945" "01943" "MAGED2_000036" "g.54836484G>A" "" "" "" "MAGED2(NM_177433.2):c.375G>A (p.K125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54810051G>A" "" "likely benign" "" "0000619732" "0" "30" "X" "54839576" "54839576" "subst" "0.0000391565" "01943" "MAGED2_000037" "g.54839576G>A" "" "" "" "MAGED2(NM_177433.2):c.1191G>A (p.K397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54813143G>A" "" "likely benign" "" "0000645358" "21" "90" "X" "54838637" "54838637" "subst" "0" "00006" "MAGED2_000044" "g.54838637C>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812204C>G" "" "pathogenic (recessive)" "" "0000645359" "21" "90" "X" "54838637" "54838637" "subst" "0" "00006" "MAGED2_000044" "g.54838637C>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812204C>G" "" "pathogenic (recessive)" "" "0000645360" "21" "90" "X" "54838637" "54838637" "subst" "0" "00006" "MAGED2_000044" "g.54838637C>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812204C>G" "" "pathogenic (recessive)" "" "0000645361" "21" "90" "X" "54841758" "54841769" "del" "0" "00006" "MAGED2_000046" "g.54841758_54841769del" "" "{PMID:Laghmani 2015:27120771}" "" "1462_73del12" "" "Germline" "yes" "" "0" "" "" "g.54815325_54815336del" "" "pathogenic (recessive)" "" "0000645362" "21" "90" "X" "54841758" "54841769" "del" "0" "00006" "MAGED2_000046" "g.54841758_54841769del" "" "{PMID:Laghmani 2015:27120771}" "" "1462_73del12" "" "Germline" "yes" "" "0" "" "" "g.54815325_54815336del" "" "pathogenic (recessive)" "" "0000645363" "21" "90" "X" "54838588" "54838588" "subst" "0" "00006" "MAGED2_000043" "g.54838588A>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812155A>G" "" "pathogenic (recessive)" "" "0000645364" "21" "90" "X" "54838588" "54838588" "subst" "0" "00006" "MAGED2_000043" "g.54838588A>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812155A>G" "" "pathogenic (recessive)" "" "0000645365" "21" "90" "X" "54838588" "54838588" "subst" "0" "00006" "MAGED2_000043" "g.54838588A>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54812155A>G" "" "pathogenic (recessive)" "" "0000645366" "21" "90" "X" "54841778" "54841778" "subst" "0" "00006" "MAGED2_000039" "g.54841778C>G" "" "{PMID:Laghmani 2015:27120771}" "" "(A495Dfs*39)" "RNA effect predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.54815345C>G" "" "pathogenic (recessive)" "" "0000645367" "0" "90" "X" "54836383" "54836383" "dup" "0" "00006" "MAGED2_000040" "g.54836383dup" "" "{PMID:Laghmani 2015:27120771}" "" "274dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54809950dup" "" "pathogenic (recessive)" "" "0000645368" "0" "90" "X" "54836506" "54836506" "subst" "0" "00006" "MAGED2_000042" "g.54836506A>T" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54810073A>T" "" "pathogenic (recessive)" "" "0000645369" "21" "90" "X" "54836495" "54836496" "del" "0" "00006" "MAGED2_000041" "g.54836495_54836496del" "" "{PMID:Laghmani 2015:27120771}" "" "386_87delTG" "" "Germline" "yes" "" "0" "" "" "g.54810062_54810063del" "" "pathogenic (recessive)" "" "0000645370" "21" "90" "X" "54836495" "54836496" "del" "0" "00006" "MAGED2_000041" "g.54836495_54836496del" "" "{PMID:Laghmani 2015:27120771}" "" "386_87delTG" "" "Germline" "yes" "" "0" "" "" "g.54810062_54810063del" "" "pathogenic (recessive)" "" "0000645371" "21" "90" "X" "54841158" "54841158" "subst" "0" "00006" "MAGED2_000045" "g.54841158C>T" "" "{PMID:Laghmani 2015:27120771}" "" "" "" "Germline" "" "" "0" "" "" "g.54814725C>T" "" "pathogenic (recessive)" "" "0000645372" "21" "90" "X" "54837674" "54837674" "subst" "0" "00006" "MAGED2_000038" "g.54837674C>G" "" "{PMID:Laghmani 2015:27120771}" "" "" "effect on RNA from mini-gene splicing assasy" "Germline" "" "" "0" "" "" "g.54811241C>G" "" "pathogenic (recessive)" "" "0000682545" "0" "30" "X" "54836237" "54836237" "subst" "0.0000929564" "01943" "MAGED2_000047" "g.54836237C>T" "" "" "" "MAGED2(NM_177433.2):c.128C>T (p.P43L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729069" "0" "70" "X" "54841892" "54841892" "subst" "0" "02327" "MAGED2_000048" "g.54841892C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896301" "0" "30" "X" "54841725" "54841725" "subst" "0.00014841" "02326" "MAGED2_000049" "g.54841725G>A" "" "" "" "MAGED2(NM_177433.3):c.1431G>A (p.E477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896302" "0" "30" "X" "54841964" "54841964" "subst" "0.0000216907" "02326" "MAGED2_000032" "g.54841964A>G" "" "" "" "MAGED2(NM_014599.5):c.1670A>G (p.(Asn557Ser)), MAGED2(NM_177433.3):c.1670A>G (p.N557S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915744" "0" "30" "X" "54836239" "54836239" "subst" "0.00316311" "02326" "MAGED2_000028" "g.54836239A>G" "" "" "" "MAGED2(NM_014599.5):c.130A>G (p.(Lys44Glu)), MAGED2(NM_177433.3):c.130A>G (p.K44E)" "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 MAGED2 ## Count = 55 "{{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}}" "0000006950" "00000532" "50" "-30" "91" "-30" "91" "c.-30+91A>C" "r.(=)" "p.(=)" "" "0000006951" "00000532" "50" "252" "0" "252" "0" "c.252A>G" "r.(?)" "p.(=)" "" "0000006952" "00000532" "50" "396" "0" "396" "0" "c.396A>G" "r.(?)" "p.(=)" "" "0000006953" "00000532" "50" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(=)" "" "0000006954" "00000532" "50" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(=)" "" "0000006955" "00000532" "50" "991" "-238" "991" "-238" "c.991-238C>A" "r.(=)" "p.(=)" "" "0000006956" "00000532" "50" "991" "-153" "991" "-153" "c.991-153G>A" "r.(=)" "p.(=)" "" "0000006957" "00000532" "50" "1271" "30" "1271" "30" "c.1271+30C>T" "r.(=)" "p.(=)" "" "0000006958" "00000532" "50" "1387" "-224" "1387" "-224" "c.1387-224G>A" "r.(=)" "p.(=)" "" "0000006959" "00000532" "50" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(=)" "" "0000009035" "00000532" "50" "-30" "91" "-30" "91" "c.-30+91A>C" "r.(=)" "p.(=)" "" "0000009036" "00000532" "50" "252" "0" "252" "0" "c.252A>G" "r.(?)" "p.(=)" "" "0000009037" "00000532" "50" "396" "0" "396" "0" "c.396A>G" "r.(?)" "p.(=)" "" "0000009038" "00000532" "50" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(=)" "" "0000009039" "00000532" "50" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(=)" "" "0000009040" "00000532" "50" "991" "-238" "991" "-238" "c.991-238C>A" "r.(=)" "p.(=)" "" "0000009041" "00000532" "50" "991" "-153" "991" "-153" "c.991-153G>A" "r.(=)" "p.(=)" "" "0000009042" "00000532" "50" "1271" "30" "1271" "30" "c.1271+30C>T" "r.(=)" "p.(=)" "" "0000009043" "00000532" "50" "1387" "-224" "1387" "-224" "c.1387-224G>A" "r.(=)" "p.(=)" "" "0000014926" "00000532" "50" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(=)" "" "0000291354" "00000532" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Met)" "" "0000334310" "00000532" "30" "130" "0" "130" "0" "c.130A>G" "r.(?)" "p.(Lys44Glu)" "" "0000334313" "00000532" "50" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(Asn557Ser)" "" "0000334314" "00000532" "30" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Ala577Thr)" "" "0000401157" "00000532" "30" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(=)" "12" "0000401158" "00000532" "30" "252" "0" "252" "0" "c.252A>G" "r.(?)" "p.(=)" "3" "0000401159" "00000532" "30" "396" "0" "396" "0" "c.396A>G" "r.(?)" "p.(=)" "3" "0000401160" "00000532" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(=)" "4" "0000401161" "00000532" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(=)" "6" "0000576750" "00000532" "50" "-29" "-3" "-29" "-3" "c.-29-3C>A" "r.spl?" "p.?" "" "0000576751" "00000532" "30" "-29" "-3" "-29" "-3" "c.-29-3C>A" "r.spl?" "p.?" "" "0000576753" "00000532" "30" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Met)" "" "0000576754" "00000532" "30" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Ala577Thr)" "" "0000619731" "00000532" "30" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Lys125=)" "" "0000619732" "00000532" "30" "1191" "0" "1191" "0" "c.1191G>A" "r.(?)" "p.(Lys397=)" "" "0000645358" "00000532" "90" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(Tyr346*)" "" "0000645359" "00000532" "90" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(Tyr346*)" "" "0000645360" "00000532" "90" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(Tyr346*)" "" "0000645361" "00000532" "90" "1464" "0" "1475" "0" "c.1464_1475del" "r.(?)" "p.(Ala490_Ala493del)" "" "0000645362" "00000532" "90" "1464" "0" "1475" "0" "c.1464_1475del" "r.(?)" "p.(Ala490_Ala493del)" "" "0000645363" "00000532" "90" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl" "p.?" "" "0000645364" "00000532" "90" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl" "p.?" "" "0000645365" "00000532" "90" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl" "p.?" "" "0000645366" "00000532" "90" "1484" "0" "1484" "0" "c.1484C>G" "r.(1484_*8del)" "p.(Ala495_Lys606delinsAspIleValAsnProAlaSerLeuSerLeuGlnAlaArgValHisProGlnLysProThrGlnHisSerThrLeuGlySerHisTyrGlnSerIleGluValAspThrLeuHis)" "" "0000645367" "00000532" "90" "274" "0" "274" "0" "c.274dup" "r.(?)" "p.(Thr92Asnfs*7)" "" "0000645368" "00000532" "90" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.(Lys133*)" "" "0000645369" "00000532" "90" "386" "0" "387" "0" "c.386_387del" "r.(?)" "p.(Val129Glyfs*2)" "" "0000645370" "00000532" "90" "386" "0" "387" "0" "c.386_387del" "r.(?)" "p.(Val129Glyfs*2)" "" "0000645371" "00000532" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Cys)" "" "0000645372" "00000532" "90" "847" "-9" "847" "-9" "c.847-9C>G" "r.(846_847insucugccag)" "p.(Trp283Serfs*11)" "" "0000682545" "00000532" "30" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Pro43Leu)" "" "0000729069" "00000532" "70" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Ala533Val)" "" "0000896301" "00000532" "30" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Glu477=)" "" "0000896302" "00000532" "30" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(Asn557Ser)" "" "0000915744" "00000532" "30" "130" "0" "130" "0" "c.130A>G" "r.(?)" "p.(Lys44Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006950" "0000000209" "0000006951" "0000000209" "0000006952" "0000000209" "0000006953" "0000000209" "0000006954" "0000000209" "0000006955" "0000000209" "0000006956" "0000000209" "0000006957" "0000000209" "0000006958" "0000000209" "0000006959" "0000000210" "0000009035" "0000000210" "0000009036" "0000000210" "0000009037" "0000000210" "0000009038" "0000000210" "0000009039" "0000000210" "0000009040" "0000000210" "0000009041" "0000000210" "0000009042" "0000000210" "0000009043" "0000000210" "0000014926" "0000174189" "0000401157" "0000174190" "0000401158" "0000174191" "0000401159" "0000174192" "0000401160" "0000174193" "0000401161" "0000289411" "0000645358" "0000289412" "0000645359" "0000289413" "0000645360" "0000289414" "0000645361" "0000289414" "0000645362" "0000289416" "0000645363" "0000289417" "0000645364" "0000289418" "0000645365" "0000289419" "0000645366" "0000289420" "0000645367" "0000289421" "0000645368" "0000289422" "0000645369" "0000289423" "0000645370" "0000289424" "0000645371" "0000289425" "0000645372"