### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCF2) # 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}}" "MCF2" "MCF.2 cell line derived transforming sequence" "X" "q26.3-q27.1" "no" "NG_016439.1" "UD_132118492932" "" "http://www.LOVD.nl/MCF2" "" "1" "6940" "4168" "311030" "1" "1" "1" "1" "This gene sequence variant databasehas 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" "http://databases.lovd.nl/shared/refseq/MCF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-10-24 16:29:10" "00000" "2025-05-05 21:14:00" ## 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}}" "00000372" "MCF2" "transcript variant 2" "005" "NM_005369.4" "" "NP_005360.3" "" "" "" "-323" "3478" "2778" "138663930" "138725000" "00000" "2012-09-13 12:10:23" "" "" "00025932" "MCF2" "transcript variant 3" "002" "NM_001171876.1" "" "NP_001165347.1" "" "" "" "-161" "3706" "3006" "138790381" "138663930" "00006" "2024-05-29 11:07:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "" "00052134" "" "" "" "1" "" "01261" "" "" "M" "no" "Estonia" "" "0" "yes" "" "white" "" "00173314" "" "" "" "112" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173315" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173527" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173584" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173630" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00450519" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "F" "" "" "" "0" "" "" "" "F039.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052134" "00198" "00173314" "00187" "00173315" "00187" "00173527" "00187" "00173584" "00187" "00173630" "00187" "00450519" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157 ## Count = 9 "{{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}}" "0000038982" "00198" "00052134" "01261" "Unknown" "" "mild intellectual disability, speech delay, facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000138178" "00187" "00173314" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138179" "00187" "00173315" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138391" "00187" "00173527" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138448" "00187" "00173584" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138494" "00187" "00173630" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000339574" "00198" "00450519" "00006" "Isolated (sporadic)" "" "arthrogryposis multiplex congenita, thoracolumbar scoliosis, restrictive ventilatory defect" "" "" "" "" "" "" "" "" "" "" "arthrogryposis multiplex congenita" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000052082" "00052134" "1" "01261" "01261" "2015-10-17 17:51:47" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000174197" "00173314" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174198" "00173315" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174410" "00173527" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174467" "00173584" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174513" "00173630" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000452117" "00450519" "1" "00006" "00006" "2024-05-29 10:58:58" "" "" "SEQ;SEQ-PB" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000174197" "NLGN4X" "0000174198" "NLGN4X" "0000174410" "CT45A5" "0000174467" "GLRA4" "0000174513" "FAM47B" ## 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 = 59 "{{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}}" "0000002179" "20" "50" "X" "138713470" "138713470" "dup" "0" "00037" "MCF2_000009" "g.138713470dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139631311dup" "" "VUS" "" "0000002180" "20" "50" "X" "138714382" "138714383" "ins" "0" "00037" "MCF2_000011" "g.138714382_138714383insAA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139632223_139632224insAA" "" "VUS" "" "0000002181" "0" "50" "X" "138724856" "138724856" "dup" "0" "00037" "MCF2_000015" "g.138724856dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139642697dup" "" "VUS" "" "0000003268" "20" "50" "X" "138698652" "138698652" "del" "0" "00037" "MCF2_000034" "g.138698652del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139616493del" "" "VUS" "" "0000003269" "20" "50" "X" "138713470" "138713470" "dup" "0" "00037" "MCF2_000037" "g.138713470dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139631311dup" "" "VUS" "" "0000003270" "20" "50" "X" "138714382" "138714383" "ins" "0" "00037" "MCF2_000038" "g.138714382_138714383insAA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139632223_139632224insAA" "" "VUS" "" "0000007749" "20" "50" "X" "138667452" "138667452" "subst" "0" "00037" "MCF2_000017" "g.138667452C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139585293C>T" "" "VUS" "" "0000007750" "20" "50" "X" "138670704" "138670704" "subst" "0" "00037" "MCF2_000020" "g.138670704C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139588545C>A" "" "VUS" "" "0000007751" "20" "50" "X" "138678518" "138678518" "subst" "0" "00037" "MCF2_000022" "g.138678518A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139596359A>C" "" "VUS" "" "0000007752" "20" "10" "X" "138679712" "138679712" "subst" "0.398317" "00037" "MCF2_000004" "g.138679712T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139597553T>A" "" "benign" "" "0000007753" "20" "50" "X" "138687167" "138687167" "subst" "0.00311584" "00037" "MCF2_000027" "g.138687167G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139605008G>T" "" "VUS" "" "0000007754" "20" "30" "X" "138689704" "138689704" "subst" "0" "00037" "MCF2_000006" "g.138689704T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139607545T>A" "" "likely benign" "" "0000007755" "20" "30" "X" "138697246" "138697246" "subst" "0.473935" "00037" "MCF2_000010" "g.138697246A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139615087A>C" "" "likely benign" "" "0000007756" "20" "50" "X" "138724725" "138724725" "subst" "0.999792" "00037" "MCF2_000012" "g.138724725G>A" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.139642566G>A" "" "VUS" "" "0000009901" "20" "50" "X" "138667452" "138667452" "subst" "0" "00037" "MCF2_000017" "g.138667452C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139585293C>T" "" "VUS" "" "0000009902" "20" "10" "X" "138679712" "138679712" "subst" "0.398317" "00037" "MCF2_000004" "g.138679712T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139597553T>A" "" "benign" "" "0000009903" "20" "50" "X" "138687167" "138687167" "subst" "0.00311584" "00037" "MCF2_000027" "g.138687167G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139605008G>T" "" "VUS" "" "0000009904" "20" "30" "X" "138689704" "138689704" "subst" "0" "00037" "MCF2_000006" "g.138689704T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139607545T>A" "" "likely benign" "" "0000009905" "20" "30" "X" "138697246" "138697246" "subst" "0.473935" "00037" "MCF2_000010" "g.138697246A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.139615087A>C" "" "likely benign" "" "0000009906" "20" "50" "X" "138698665" "138698665" "subst" "0.50508" "00037" "MCF2_000007" "g.138698665T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139616506T>C" "" "VUS" "" "0000009907" "20" "50" "X" "138700020" "138700020" "dup" "0" "00037" "MCF2_000008" "g.138700020dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139617861dup" "" "VUS" "" "0000009908" "20" "50" "X" "138713470" "138713470" "dup" "0" "00037" "MCF2_000009" "g.138713470dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139631311dup" "" "VUS" "" "0000009909" "20" "50" "X" "138724725" "138724725" "subst" "0.999792" "00037" "MCF2_000012" "g.138724725G>A" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.139642566G>A" "" "VUS" "" "0000009910" "0" "50" "X" "138724856" "138724856" "dup" "0" "00037" "MCF2_000015" "g.138724856dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139642697dup" "" "VUS" "" "0000011253" "20" "50" "X" "138698652" "138698652" "del" "0" "00037" "MCF2_000034" "g.138698652del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139616493del" "" "VUS" "" "0000011254" "20" "50" "X" "138700020" "138700020" "dup" "0" "00037" "MCF2_000039" "g.138700020dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139617861dup" "" "VUS" "" "0000011255" "20" "50" "X" "138713470" "138713470" "dup" "0" "00037" "MCF2_000037" "g.138713470dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139631311dup" "" "VUS" "" "0000011256" "20" "50" "X" "138714382" "138714383" "ins" "0" "00037" "MCF2_000038" "g.138714382_138714383insAA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139632223_139632224insAA" "" "VUS" "" "0000011257" "0" "50" "X" "138724841" "138724841" "del" "0" "00037" "MCF2_000036" "g.138724841del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139642682del" "" "VUS" "" "0000015721" "20" "50" "X" "138670704" "138670704" "subst" "0" "00037" "MCF2_000020" "g.138670704C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139588545C>A" "" "VUS" "" "0000015722" "20" "50" "X" "138678518" "138678518" "subst" "0" "00037" "MCF2_000022" "g.138678518A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.139596359A>C" "" "VUS" "" "0000081523" "21" "50" "X" "138724628" "138724628" "subst" "0.00163741" "01261" "MCF2_000013" "g.138724628G>A" "" "" "" "" "in ExAC with AF of 0.0016%, not present in in-house database (312 individuals)" "Germline" "?" "rs144414622" "0" "" "" "g.139642469G>A" "" "VUS" "" "0000282411" "0" "10" "X" "138774209" "138774209" "subst" "0.995345" "02325" "MCF2_000055" "g.138774209C>T" "" "" "" "MCF2(NM_001171876.2):c.-45+16056G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139692050C>T" "" "benign" "" "0000282412" "0" "10" "X" "138679712" "138679712" "subst" "0.398317" "02325" "MCF2_000004" "g.138679712T>A" "" "" "" "MCF2(NM_001171876.2):c.2190A>T (p.G730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139597553T>A" "" "benign" "" "0000291593" "0" "50" "X" "138678719" "138678719" "subst" "1.68712E-5" "01943" "MCF2_000040" "g.138678719G>A" "" "" "" "MCF2(NM_001171876.1):c.2494C>T (p.H832Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139596560G>A" "" "VUS" "" "0000335699" "0" "50" "X" "138699734" "138699734" "subst" "0.0013071" "01804" "MCF2_000041" "g.138699734C>T" "" "" "" "MCF2(NM_001099855.1):c.1117G>A (p.(Glu373Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139617575C>T" "" "VUS" "" "0000335700" "0" "50" "X" "138711924" "138711924" "subst" "1.12729E-5" "01804" "MCF2_000042" "g.138711924T>A" "" "" "" "MCF2(NM_001099855.1):c.548A>T (p.(Glu183Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139629765T>A" "" "VUS" "" "0000335702" "0" "50" "X" "138714519" "138714519" "subst" "0.000250838" "01804" "MCF2_000043" "g.138714519T>C" "" "" "" "MCF2(NM_001099855.1):c.326A>G (p.(Gln109Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139632360T>C" "" "VUS" "" "0000335703" "0" "30" "X" "138724628" "138724628" "subst" "0.00163741" "01804" "MCF2_000013" "g.138724628G>A" "" "" "" "MCF2(NM_001171877.2):c.50C>T (p.(Ala17Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139642469G>A" "" "likely benign" "" "0000335704" "0" "50" "X" "138727797" "138727797" "subst" "0" "01804" "MCF2_000044" "g.138727797C>T" "" "" "" "MCF2(NM_001099855.1):c.161G>A (p.(Arg54Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139645638C>T" "" "VUS" "" "0000401186" "1" "30" "X" "138679712" "138679712" "subst" "0.398317" "00124" "MCF2_000004" "g.138679712T>A" "112/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G654G" "recurrent, found 112 times" "Germline" "" "" "0" "" "" "g.139597553T>A" "" "likely benign" "" "0000401187" "1" "30" "X" "138678744" "138678744" "subst" "0.0333816" "00124" "MCF2_000045" "g.138678744G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D747D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.139596585G>A" "" "likely benign" "" "0000401188" "1" "50" "X" "138686878" "138686878" "subst" "0.0117208" "00124" "MCF2_000047" "g.138686878G>A" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "H569Y" "recurrent, found 9 times" "Germline" "" "" "0" "" "" "g.139604719G>A" "" "VUS" "" "0000401189" "1" "50" "X" "138684621" "138684621" "subst" "0.00081845" "00124" "MCF2_000046" "g.138684621T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N594D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.139602462T>C" "" "VUS" "" "0000401190" "1" "50" "X" "138698628" "138698628" "subst" "0.000150567" "00124" "MCF2_000048" "g.138698628C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R335H" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.139616469C>T" "" "VUS" "" "0000573894" "0" "50" "X" "138670598" "138670598" "subst" "0" "01943" "MCF2_000050" "g.138670598C>G" "" "" "" "MCF2(NM_001171876.1):c.2599-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139588439C>G" "" "VUS" "" "0000573898" "0" "50" "X" "138711880" "138711880" "subst" "1.13377E-5" "01943" "MCF2_000052" "g.138711880G>A" "" "" "" "MCF2(NM_001171876.1):c.592C>T (p.R198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139629721G>A" "" "VUS" "" "0000573899" "0" "50" "X" "138713651" "138713651" "dup" "0" "01943" "MCF2_000053" "g.138713651dup" "" "" "" "MCF2(NM_001171876.1):c.372dupT (p.S125*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139631492dup" "" "VUS" "" "0000573900" "0" "30" "X" "138733902" "138733902" "subst" "0" "02327" "MCF2_000054" "g.138733902A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139651743A>G" "" "likely benign" "" "0000619056" "0" "30" "X" "138697061" "138697061" "subst" "0" "01943" "MCF2_000056" "g.138697061G>A" "" "" "" "MCF2(NM_001171876.1):c.1522C>T (p.P508S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139614902G>A" "" "likely benign" "" "0000624449" "0" "30" "X" "138711901" "138711901" "subst" "1.12643E-5" "01943" "MCF2_000057" "g.138711901T>C" "" "" "" "MCF2(NM_001171876.1):c.571A>G (p.I191V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139629742T>C" "" "likely benign" "" "0000624450" "0" "50" "X" "138727772" "138727772" "subst" "5.71971E-6" "01943" "MCF2_000058" "g.138727772T>A" "" "" "" "MCF2(NM_001171876.1):c.186A>T (p.R62S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139645613T>A" "" "VUS" "" "0000728488" "0" "30" "X" "138698512" "138698512" "subst" "2.29293E-5" "01943" "MCF2_000059" "g.138698512G>A" "" "" "" "MCF2(NM_001171876.1):c.1300C>T (p.L434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809967" "0" "50" "X" "138714580" "138714580" "subst" "3.97035E-5" "01943" "MCF2_000060" "g.138714580C>T" "" "" "" "MCF2(NM_001171876.1):c.265G>A (p.V89I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809968" "0" "70" "X" "138729057" "138729057" "subst" "0" "02325" "MCF2_000061" "g.138729057G>A" "" "" "" "MCF2(NM_001171876.2):c.31C>T (p.R11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984481" "0" "50" "X" "138669949" "138669949" "subst" "0" "01804" "MCF2_000062" "g.138669949T>G" "" "" "" "MCF2(NM_001171876.2):c.2678-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986097" "0" "70" "X" "138247049" "138761473" "dup" "0" "00006" "FGF13_000031" "g.138247049_138761473dup" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "variant predicted to give a fusion transcript and to be associated with the disease phenotype" "De novo" "" "" "0" "" "" "g.139164887_139679311dup" "" "likely pathogenic (dominant)" "" "0001006471" "0" "50" "X" "138689859" "138689859" "subst" "2.89518E-5" "01804" "MCF2_000063" "g.138689859A>G" "" "" "" "MCF2(NM_001171876.1):c.1709T>C (p.(Val570Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006472" "0" "50" "X" "138689880" "138689880" "subst" "0" "01804" "MCF2_000064" "g.138689880T>C" "" "" "" "MCF2(NM_001171876.1):c.1688A>G (p.(Asp563Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 MCF2 ## Count = 112 "{{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}}" "0000002179" "00025932" "50" "468" "84" "468" "84" "c.468+84dup" "r.(=)" "p.(=)" "" "0000002179" "00000372" "50" "288" "90" "288" "90" "c.288+90dup" "r.(=)" "p.(=)" "" "0000002180" "00025932" "50" "351" "111" "351" "112" "c.351+111_351+112insTT" "r.(=)" "p.(=)" "" "0000002180" "00000372" "50" "171" "112" "171" "113" "c.171+112_171+113insTT" "r.(=)" "p.(=)" "" "0000002181" "00025932" "50" "231" "2871" "231" "2871" "c.231+2871dup" "r.(=)" "p.(=)" "" "0000002181" "00000372" "50" "-165" "0" "-165" "0" "c.-165dup" "r.(?)" "p.(=)" "" "0000003268" "00025932" "50" "1180" "-20" "1180" "-20" "c.1180-20del" "r.(=)" "p.(=)" "" "0000003268" "00000372" "50" "1000" "-20" "1000" "-20" "c.1000-20del" "r.(=)" "p.(=)" "" "0000003269" "00025932" "50" "468" "84" "468" "84" "c.468+84dup" "r.(=)" "p.(=)" "" "0000003269" "00000372" "50" "288" "90" "288" "90" "c.288+90dup" "r.(=)" "p.(=)" "" "0000003270" "00025932" "50" "351" "111" "351" "112" "c.351+111_351+112insTT" "r.(=)" "p.(=)" "" "0000003270" "00000372" "50" "171" "112" "171" "113" "c.171+112_171+113insTT" "r.(=)" "p.(=)" "" "0000007749" "00025932" "50" "2861" "-115" "2861" "-115" "c.2861-115G>A" "r.(=)" "p.(=)" "" "0000007749" "00000372" "50" "2633" "-115" "2633" "-115" "c.2633-115G>A" "r.(=)" "p.(=)" "" "0000007750" "00025932" "50" "2599" "-107" "2599" "-107" "c.2599-107G>T" "r.(=)" "p.(=)" "" "0000007750" "00000372" "50" "2371" "-107" "2371" "-107" "c.2371-107G>T" "r.(=)" "p.(=)" "" "0000007751" "00025932" "50" "2505" "190" "2505" "190" "c.2505+190T>G" "r.(=)" "p.(=)" "" "0000007751" "00000372" "50" "2277" "190" "2277" "190" "c.2277+190T>G" "r.(=)" "p.(=)" "" "0000007752" "00025932" "10" "2190" "0" "2190" "0" "c.2190A>T" "r.(=)" "p.(=)" "" "0000007752" "00000372" "10" "1962" "0" "1962" "0" "c.1962A>T" "r.(?)" "p.(Gly654=)" "18" "0000007753" "00025932" "50" "1786" "-24" "1786" "-24" "c.1786-24C>A" "r.(=)" "p.(=)" "" "0000007753" "00000372" "50" "1558" "-24" "1558" "-24" "c.1558-24C>A" "r.(=)" "p.(=)" "" "0000007754" "00025932" "30" "1718" "146" "1718" "146" "c.1718+146A>T" "r.(=)" "p.(=)" "" "0000007754" "00000372" "30" "1490" "146" "1490" "146" "c.1490+146A>T" "r.(?)" "p.(=)" "12i" "0000007755" "00025932" "30" "1372" "-35" "1372" "-35" "c.1372-35T>G" "r.(=)" "p.(=)" "" "0000007755" "00000372" "30" "1192" "-35" "1192" "-35" "c.1192-35T>G" "r.(?)" "p.(=)" "9i" "0000007756" "00025932" "50" "231" "3002" "231" "3002" "c.231+3002C>T" "r.(=)" "p.(=)" "" "0000007756" "00000372" "50" "-48" "0" "-48" "0" "c.-48C>T" "" "p.(=)" "" "0000009901" "00025932" "50" "2861" "-115" "2861" "-115" "c.2861-115G>A" "r.(=)" "p.(=)" "" "0000009901" "00000372" "50" "2633" "-115" "2633" "-115" "c.2633-115G>A" "r.(=)" "p.(=)" "" "0000009902" "00025932" "10" "2190" "0" "2190" "0" "c.2190A>T" "r.(=)" "p.(=)" "" "0000009902" "00000372" "10" "1962" "0" "1962" "0" "c.1962A>T" "r.(?)" "p.(Gly654=)" "18" "0000009903" "00025932" "50" "1786" "-24" "1786" "-24" "c.1786-24C>A" "r.(=)" "p.(=)" "" "0000009903" "00000372" "50" "1558" "-24" "1558" "-24" "c.1558-24C>A" "r.(=)" "p.(=)" "" "0000009904" "00025932" "30" "1718" "146" "1718" "146" "c.1718+146A>T" "r.(=)" "p.(=)" "" "0000009904" "00000372" "30" "1490" "146" "1490" "146" "c.1490+146A>T" "r.(?)" "p.(=)" "12i" "0000009905" "00025932" "30" "1372" "-35" "1372" "-35" "c.1372-35T>G" "r.(=)" "p.(=)" "" "0000009905" "00000372" "30" "1192" "-35" "1192" "-35" "c.1192-35T>G" "r.(?)" "p.(=)" "9i" "0000009906" "00025932" "50" "1180" "-33" "1180" "-33" "c.1180-33A>G" "r.(=)" "p.(=)" "" "0000009906" "00000372" "50" "1000" "-33" "1000" "-33" "c.1000-33A>G" "r.(=)" "p.(=)" "" "0000009907" "00025932" "50" "988" "-157" "988" "-157" "c.988-157dup" "r.(=)" "p.(=)" "" "0000009907" "00000372" "50" "808" "-147" "808" "-147" "c.808-147dup" "r.(=)" "p.(=)" "" "0000009908" "00025932" "50" "468" "84" "468" "84" "c.468+84dup" "r.(=)" "p.(=)" "" "0000009908" "00000372" "50" "288" "90" "288" "90" "c.288+90dup" "r.(=)" "p.(=)" "" "0000009909" "00025932" "50" "231" "3002" "231" "3002" "c.231+3002C>T" "r.(=)" "p.(=)" "" "0000009909" "00000372" "50" "-48" "0" "-48" "0" "c.-48C>T" "" "p.(=)" "" "0000009910" "00025932" "50" "231" "2871" "231" "2871" "c.231+2871dup" "r.(=)" "p.(=)" "" "0000009910" "00000372" "50" "-165" "0" "-165" "0" "c.-165dup" "r.(?)" "p.(=)" "" "0000011253" "00025932" "50" "1180" "-20" "1180" "-20" "c.1180-20del" "r.(=)" "p.(=)" "" "0000011253" "00000372" "50" "1000" "-20" "1000" "-20" "c.1000-20del" "r.(=)" "p.(=)" "" "0000011254" "00025932" "50" "988" "-157" "988" "-157" "c.988-157dup" "r.(=)" "p.(=)" "" "0000011254" "00000372" "50" "808" "-147" "808" "-147" "c.808-147dup" "r.(=)" "p.(=)" "" "0000011255" "00025932" "50" "468" "84" "468" "84" "c.468+84dup" "r.(=)" "p.(=)" "" "0000011255" "00000372" "50" "288" "90" "288" "90" "c.288+90dup" "r.(=)" "p.(=)" "" "0000011256" "00025932" "50" "351" "111" "351" "112" "c.351+111_351+112insTT" "r.(=)" "p.(=)" "" "0000011256" "00000372" "50" "171" "112" "171" "113" "c.171+112_171+113insTT" "r.(=)" "p.(=)" "" "0000011257" "00025932" "50" "231" "2886" "231" "2886" "c.231+2886del" "r.(=)" "p.(=)" "" "0000011257" "00000372" "50" "-163" "0" "-163" "0" "c.-163del" "r.(?)" "p.(=)" "" "0000015721" "00025932" "50" "2599" "-107" "2599" "-107" "c.2599-107G>T" "r.(=)" "p.(=)" "" "0000015721" "00000372" "50" "2371" "-107" "2371" "-107" "c.2371-107G>T" "r.(=)" "p.(=)" "" "0000015722" "00025932" "50" "2505" "190" "2505" "190" "c.2505+190T>G" "r.(=)" "p.(=)" "" "0000015722" "00000372" "50" "2277" "190" "2277" "190" "c.2277+190T>G" "r.(=)" "p.(=)" "" "0000081523" "00000372" "50" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ala17Val)" "2" "0000282411" "00025932" "10" "-45" "16056" "-45" "16056" "c.-45+16056G>A" "r.(=)" "p.(=)" "" "0000282411" "00000372" "10" "-49532" "0" "-49532" "0" "c.-49532G>A" "r.(?)" "p.(=)" "" "0000282412" "00025932" "10" "2190" "0" "2190" "0" "c.2190A>T" "r.(?)" "p.(Gly730=)" "" "0000282412" "00000372" "10" "1962" "0" "1962" "0" "c.1962A>T" "r.(?)" "p.(Gly654=)" "" "0000291593" "00025932" "50" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(His832Tyr)" "" "0000291593" "00000372" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(His756Tyr)" "" "0000335699" "00025932" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Glu373Lys)" "" "0000335699" "00000372" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Glu313Lys)" "" "0000335700" "00025932" "50" "548" "0" "548" "0" "c.548A>T" "r.(?)" "p.(Glu183Val)" "" "0000335700" "00000372" "50" "368" "0" "368" "0" "c.368A>T" "r.(?)" "p.(Glu123Val)" "" "0000335702" "00025932" "50" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Gln109Arg)" "" "0000335702" "00000372" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Gln49Arg)" "" "0000335703" "00025932" "30" "231" "3099" "231" "3099" "c.231+3099C>T" "r.(=)" "p.(=)" "" "0000335703" "00000372" "30" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Ala17Val)" "" "0000335704" "00025932" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Arg54Gln)" "" "0000335704" "00000372" "50" "-3120" "0" "-3120" "0" "c.-3120G>A" "r.(?)" "p.(=)" "" "0000401186" "00000372" "30" "1962" "0" "1962" "0" "c.1962A>T" "r.(?)" "G654G" "18" "0000401187" "00000372" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "D747D" "19" "0000401188" "00000372" "50" "1705" "0" "1705" "0" "c.1705C>T" "r.(?)" "H569Y" "15" "0000401189" "00000372" "50" "1780" "0" "1780" "0" "c.1780A>G" "r.(?)" "N594D" "16" "0000401190" "00000372" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "R335H" "8" "0000573894" "00025932" "50" "2599" "-1" "2599" "-1" "c.2599-1G>C" "r.spl?" "p.?" "" "0000573894" "00000372" "50" "2371" "-1" "2371" "-1" "c.2371-1G>C" "r.spl?" "p.?" "" "0000573898" "00025932" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000573898" "00000372" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Cys)" "" "0000573899" "00025932" "50" "372" "0" "372" "0" "c.372dup" "r.(?)" "p.(Ser125Ter)" "" "0000573899" "00000372" "50" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Ser65Ter)" "" "0000573900" "00025932" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000573900" "00000372" "30" "-9225" "0" "-9225" "0" "c.-9225T>C" "r.(?)" "p.(=)" "" "0000619056" "00025932" "30" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Pro508Ser)" "" "0000619056" "00000372" "30" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Pro448Ser)" "" "0000624449" "00025932" "30" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Ile191Val)" "" "0000624449" "00000372" "30" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Ile131Val)" "" "0000624450" "00025932" "50" "186" "0" "186" "0" "c.186A>T" "r.(?)" "p.(Arg62Ser)" "" "0000624450" "00000372" "50" "-3095" "0" "-3095" "0" "c.-3095A>T" "r.(?)" "p.(=)" "" "0000728488" "00025932" "30" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Leu434=)" "" "0000728488" "00000372" "30" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Leu374=)" "" "0000809967" "00025932" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Val89Ile)" "" "0000809967" "00000372" "50" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Val29Ile)" "" "0000809968" "00025932" "70" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000809968" "00000372" "70" "-4380" "0" "-4380" "0" "c.-4380C>T" "r.(?)" "p.(=)" "" "0000984481" "00025932" "50" "2678" "-2" "2678" "-2" "c.2678-2A>C" "r.spl?" "p.?" "" "0000984481" "00000372" "50" "2450" "-2" "2450" "-2" "c.2450-2A>C" "r.spl?" "p.?" "" "0000986097" "00025932" "70" "0" "0" "0" "0" "c.-44-27526_*700{2}" "r.?" "p.?" "" "0000986097" "00000372" "70" "-36796" "0" "420359" "0" "c.-36796_*417581dup" "r.?" "p.?" "" "0001006471" "00025932" "50" "1709" "0" "1709" "0" "c.1709T>C" "r.(?)" "p.(Val570Ala)" "" "0001006471" "00000372" "50" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Val494Ala)" "" "0001006472" "00025932" "50" "1688" "0" "1688" "0" "c.1688A>G" "r.(?)" "p.(Asp563Gly)" "" "0001006472" "00000372" "50" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(Asp487Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002179" "0000000209" "0000002180" "0000000209" "0000002181" "0000000209" "0000003268" "0000000209" "0000003269" "0000000209" "0000003270" "0000000209" "0000007749" "0000000209" "0000007750" "0000000209" "0000007751" "0000000209" "0000007752" "0000000209" "0000007753" "0000000209" "0000007754" "0000000209" "0000007755" "0000000209" "0000007756" "0000000210" "0000009901" "0000000210" "0000009902" "0000000210" "0000009903" "0000000210" "0000009904" "0000000210" "0000009905" "0000000210" "0000009906" "0000000210" "0000009907" "0000000210" "0000009908" "0000000210" "0000009909" "0000000210" "0000009910" "0000000210" "0000011253" "0000000210" "0000011254" "0000000210" "0000011255" "0000000210" "0000011256" "0000000210" "0000011257" "0000000210" "0000015721" "0000000210" "0000015722" "0000052082" "0000081523" "0000174197" "0000401186" "0000174198" "0000401187" "0000174410" "0000401188" "0000174467" "0000401189" "0000174513" "0000401190" "0000452117" "0000986097"